<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is X-linked complicated corpus callosum dysgenesis and can you explain it in depth? [/INST] X-linked complicated corpus callosum dysgenesis is a genetic disorder characterized by dysplasia, hypoplasia or agenesis of the corpus callosum alongside variable intellectual disability and spastic paraplegia. Only 13 cases (all male) have been described in medical literature. Transmission is X-linked recessive. It is the mildest subtype of L1 syndrome.This condition differs from other L1 syndromes due to the fact that neither hydrocephalus, adducted thumbs, or speech difficulties are common in patients with the condition.

Genetics
This condition is caused by X-linked recessive mutations in the L1CAM gene, located in the long arm of the X chromosome. Mutations involved in the milder variants of L1 syndrome (including X-linked complicated corpus callosum dysgenesis) usually work by changing the L1 protein structure.

Cases
The following list comprises all cases of X-linked complicated corpus callosum dysgenesis described in medical literature (from OMIM):
1964: Menkes et al. describes 5 males from 4 sibships of a 2-generation American family. The males (all infants) had partial corpus callosum agenesis, severe intellectual disabilities, developmental delays, and epilepsy. The disorder first manifested right after birth, with recurrent seizures occurring hours after it. Out of these 5 babies, 3 had died. Post-mortem examination of one of the dead infants revealed chemical and anatomical abnormalities.
1983: Kaplan et al. describes 2 males from a 2-generation Canadian family. The proband was a 2 year old male, the first-born child of healthy, non-consanguineous Ashkenazi Jewish parents in their mid-20s, his pregnancy was uneventful (besides slight vaginal bleeding experienced by the mother sometime during her first three months of pregnancy). He was noted to have unilateral congenital ptosis, clinodactyly affecting the index and ring fingers, bilateral thumb adduction, and upper limb weakness at birth, with symptoms of Hirschsprungs disease showing 24 hours after he was born. He was psychomotorly delayed. CT scans showed brain growth delay, corpus callosum agenesis, and a hypoplastic inferior vermis and cerebellum. Electroencephalograms gave abnormal results. He was born weighing 3.09 kilograms, being 49 cm long, and with a head circumference of 33.5 cm. The second case was his 24-year-old maternal uncle. He was psychomotorly delayed like his nephew, and he noted to have pectus excavatum and speckled irises only </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Epidermolytic hyperkeratosis and can you explain it in depth? [/INST] Epidermolytic ichthyosis (EI), also known as bullous epidermis ichthyosis (BEI), epidermolytic hyperkeratosis (EHK), bullous congenital ichthyosiform erythroderma (BCIE), bullous ichthyosiform erythroderma: 482  or bullous congenital ichthyosiform erythroderma Brocq, is a rare and severe form of ichthyosis this skin disease affects around 1 in 300,000 people.
The condition is caused by a genetic mutation, so it cannot be completely cured without some form of gene therapy.
While some research has been done into possible gene therapy treatments, the work hasnt yet been successfully developed to the stage where it can be routinely given to patients.
The condition involves the clumping of keratin filaments.: 562

Presentation
Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis).
As affected individuals get older, blistering is less frequent, erythroderma becomes less evident, and the skin becomes thick (hyperkeratotic), especially over joints, on areas of skin that come into contact with each other, or on the scalp or neck. This thickened skin is usually darker than normal. Bacteria can grow in the thick skin, often causing a distinct odor.
Epidermolytic hyperkeratosis can be categorized into two types :-

People with PS-type epidermolytic hyperkeratosis have thick skin on the palms of their hands and soles of their feet (palmoplantar or palm/sole hyperkeratosis) in addition to other areas of the body.
People with the other type, NPS-type, do not have extensive palmoplantar hyperkeratosis, but do have hyperkeratosis on other areas of the body.Epidermolytic hyperkeratosis is part of a group of conditions called ichthyoses, which refers to the scaly skin seen in individuals with related disorders. However, in epidermolytic hyperkeratosis, the skin is thick but not scaly as in some of the other conditions in the group.
http://ghr.nlm.nih.gov/condition/epidermolytic-hyperkeratosis

Genetics
It is possible to classify epidermolytic hyperkeratosis based upon palm and sole hyperkeratosis.This is a dominant genetic condition caused by mutations in the genes encoding the proteins keratin 1 or keratin 10.

Keratin 1 is associated with the variants affecting the palms and soles.
Keratin 10 is associated with the variants in which these are unaffected.

Diagnosis
The condition can be diagnosed via exam that reveals; generalized redness; thick, generally dark, scales that tend to form parallel rows of spines or ridges, especially near large joints; the skin is fragile and blisters easily following trauma; extent of blistering and amount of scale is variable.

Treatment
Oral retinoids have proven effective in treating this disorder. Depending on the side effects they may improve the quality of life. Examples are etretinate, acitretin, isotretinoin

Gene therapy
Gene therapy is really the only true therapy on the horizon for sufferers of EHK.
Over the past 10 years since the first EHK mouse model was developed, many ideas have been discussed about how best to cure EHK. Back as far as 1994 researchers were discussing new promising ideas such as topical lotions that would deliver ribozymes in a liposome cream. Ribozymes are a small piece of synthetic RNA which can digest RNA molecules. When cells make a protein from a gene on a chromosome sitting in the nucleus, the gene is first transcribed as a piece of RNA. This RNA is then translated into a protein. Ribozymes can be designed to destroy RNA molecules with specific sequences. In theory, this will stop the production of the protein encoded by the mutant alleles of the gene.
Successful gene therapy solutions have been recently achieved on mouse models by Jiang Chen M.D., a post-doctoral fellow in the laboratory of Dennis Roop, Ph.D., in the Center for Cutaneous Molecular Biology at Baylor College of Medicine. In 1998 they developed an inducible mouse model for epidermolysis hyperkeratosis which is viable, because the expression of a mutant K10 allele can be restricted to a focal area of the skin. "Once the mutant K10 allele is activated in epidermal stem cells by topical application of an inducer, these stem cells continuously give rise to defective progeny that form hyperkeratotic lesions which persist for the life of the mouse. It was observed that partial suppression of the mutant K10 gene may be sufficient to eliminate the disorder."
To test this observation, Dr. Chen and his team of researchers developed siRNAs that target the mutant K10 gene products for degradation, without affecting normal K10 gene products. Dr. Chen observed that under these conditions, an efficient knock-down of mutant, but not normal, K10 genes could be achieved. The results allowed the normal K10 genes to function properly building healthy skin tissues. He claims that these results may prove to be a very vital step forward in forging a novel gene therapy and possible permanent corrective therapy for this debilitating skin disorder.

Next steps
The challenge has always been how to deliver the siRNA using a topical method or retroviral vectors and ex vivo gene transfer. In 2011/12 a team at Northwestern University claim to have solved the topical delivery of siRNA dilemma. Personalized siRNA can be delivered in a commercial moisturizer or phosphate-buffered saline, and do not require barrier disruption or transfection agents, such as liposomes, peptides, or viruses. "Topical application of nucleic acids offers many potential therapeutic advantages for suppressing genes in the skin, and potentially for systemic gene delivery. However, the epidermal barrier typically precludes entry of gene-suppressing therapy unless the barrier is disrupted </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Ankle flare and can you explain it in depth? [/INST]  </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Ischemic fasciitis and can you explain it in depth? [/INST] Ischemic fasciities (IF), also termed atypical decubital fibroplasia or decubital ischemic fasciitis, is a rare pseudosarcomatous (i.e. easily mistaken for a sarcoma) tumor. It was first described by E. A. Montgomery et al. in 1992. This tumor typically forms in the subcutaneous tissues (i.e. lower most tissue layer of the skin) that overlie bony protuberances such as a hip in individuals who are debilitated and bed-ridden.Microscopically, IF lesions consist of proliferating, atypical fibroblasts and/or myofibroblasts. The lesions were initially regarded as non-neoplastic proliferation responses of these cell types to long-term tissue pressure or trauma. More recently, however, the World Health Organization, 2020, defined IF lesions as neoplasms, i.e. tissue growths which are uncoordinated with that of the normal surrounding tissue and persist in growing even if the original trigger for their development is removed. The Organization formally classified IF lesions as belonging to the category of benign fibroblastic and myofibroblastic tumors.The treatment of choice for these often disfiguring, uncomfortable, and/or painful IF tumors is generally conservative, local surgical excision. It is critically important that these benign tumors be distinguished from other fasciitis tumors as well as certain sarcomas which can be highly invasive and/or malignant and therefor require far more aggressive treatment.

Presentation
In the original study of IF, individuals diagnosed with the disorder were women (16 cases) or men (12 cases) age 15 to 95 years; In a more recent study, diagnosed individuals were women (15 cases) or men (29 cases) aged 23–96 years old. Most individuals in these two studies were in their 8th or 9th decade when diagnosed with IF and, overall, had a relatively long history of being invalided, immobilized, and/or bed-ridden due to other disorders such as severe osteoarthritis, rheumatoid arthritis, chronic renal failure, chronic obstructive pulmonary disease, cancer, or dementia. In the study of 44 individuals, however, an appreciable number of patients did not have a history of debilitation. Some individuals reported that they had prior trauma in the areas where their lesions developed.Individuals present with a painless or painful and sometimes disabling slowly growing mass that is ill-defined, located in deep subcutaneous tissues, and, rarely, has spread into an adjacent skeletal muscle or tendon. The masses vary from 1.3 to 10 cm in maximum diameter. In the study of 44 cases, 76.7% of the tumors were located around the base of a hip (11 cases), shoulder (7 cases), or greater trochanter of the femur; 4 were in a hip joint, 4 in a thigh, 3 in the iliac crest, 2 in a buttock, and 1 each in the lumbar region, scapular region, or a deltoid muscle; in the remaining cases, ~11.2% of the tumors were on the chest wall away from the shoulders and ~11.2% were on the back. Typically, the tumors reside over boney protuberances which, it is thought, provide the mechanical pressures that cause poor blood flow to nearby subcutaneous tissues, aberrant wound healing in these tissues, and thereby the development of IF.

Pathology
On gross examination, IF tumors are typically white-yellow masses with central necrosis (i.e. areas of dead or dying cells), and areas containing cysts  and/or old, dried hemorrhages. The tumors are often poorly circumscribed, have an infiltrative appearance, may be multinodular, and lie in subcutaneous tissue but may also involve the dermal layer of the skin and/or the reticular dermis. Microscopic histopathological studies of IF tissues report the characteristic presence of a distinct zonal appearance, i.e. the presence of central zones of fibrinoid necrosis and areas of cyst-laden necrosis in a hypocellular background surrounding by a zone of granulation tissue (i.e. connective tissue containing microscopic blood vessels) populated by atypical, swollen fibroblasts, myofibroblasts, and/or macrophages.Immunohistochemistry analyses of IF tumors often show the presence of fibroblasts, fibroblast-like cells, and or other types of cells that in a percentage of cases express smooth muscle actin proteins, CD68 protein,. desmin protein, vimentin protein, and collagen type IV protein, but not keratin, S100, calponin, or CD34 proteins. The finding that a tumors cells have some of these patterns of protein expression can help support the diagnosis of IF.

Gene and chromosome abnormalities
A single case of IF was found to have tumor cells bearing chromosomal translocations between chromosomes 1 and 2 and/or chromosomes 7 and 19 </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Poikiloderma of Civatte and can you explain it in depth? [/INST]  </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Harrington rod and can you explain it in depth? [/INST] The Harrington rod (or Harrington implant) is a stainless steel surgical device. Historically, this rod was implanted along the spinal column to treat, among other conditions, a lateral or coronal-plane curvature of the spine, or scoliosis. Up to one million people had Harrington rods implanted for scoliosis between the early 1960s and the late 1990s.

History
The Harrington implant was developed in 1953 by Paul Harrington, a professor of orthopedic surgery at Baylor College of Medicine in Houston, Texas.Harrington rods were intended to provide a means to reduce the curvature and to provide more stability to a spinal fusion. Before the Harrington rod was invented, scoliosis patients had their spines fused without any instrumentation to support it; such fusions required many months in plaster casts, and large curvatures could progress despite fusion.

Purpose
Harrington rod instrumentation was used to treat instability and deformity of the spine. Instability occurs when the spine no longer maintains its normal shape during movement </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Interdigitating dendritic cell sarcoma and can you explain it in depth? [/INST]  </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Atrial tachycardia and can you explain it in depth? [/INST]  </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Amputation and can you explain it in depth? [/INST] Amputation is the removal of a limb by trauma, medical illness, or surgery. As a surgical measure, it is used to control pain or a disease process in the affected limb, such as malignancy or gangrene. In some cases, it is carried out on individuals as a preventive surgery for such problems. A special case is that of congenital amputation, a congenital disorder, where fetal limbs have been cut off by constrictive bands. In some countries, amputation is currently used to punish people who commit crimes. Amputation has also been used as a tactic in war and acts of terrorism; it may also occur as a war injury. In some cultures and religions, minor amputations or mutilations are considered a ritual accomplishment. When done by a person, the person executing the amputation is an amputator.In the US, the majority of new amputations occur due to complications of the vascular system (the blood vessels), especially from diabetes. Between 1988 and 1996, there were an average of 133,735 hospital discharges for amputation per year in the US. In 2005, just in the US, there were 1.6 million amputees.  In 2013, the US had 2.1 million amputees.  Approximately 185,000 amputations occur in the United States each year.  In 2009, hospital costs associated with amputation totaled more than $8.3 billion. There will be an estimated 3.6 million people in the US living with limb loss by 2025.

Types
Leg
Lower limb amputations can be divided into two broad categories: minor and major amputations. Minor amputations generally refer to the amputation of digits. Major amputations are commonly below-knee- or above-knee amputations. Common partial foot amputations include the Chopart, Lisfranc, and ray amputations.
Common forms of ankle disarticulations include Pyrogoff, Boyd, and Syme amputations. A less common major amputation is the Van Nes rotation, or rotationplasty, i.e. the turning around and reattachment of the foot to allow the ankle joint to take over the function of the knee.
Types of amputations include:

partial foot amputation
amputation of the lower limb distal to the ankle joint
ankle disarticulation
amputation of the lower limb at the ankle joint
trans-tibial amputation
amputation of the lower limb between the knee joint and the ankle joint, commonly referred to as a below-knee amputation
knee disarticulation
 amputation of the lower limb at the knee joint
trans-femoral amputation
amputation of the lower limb between the hip joint and the knee joint, commonly referred to an above-knee amputation
hip disarticulation
amputation of the lower limb at the hip joint
trans-pelvic disarticulation
amputation of the whole lower limb together with all or part of the pelvis, also known as a hemipelvectomy or hindquarter amputation

Arm
Types of upper extremity amputations include:
partial hand amputation
wrist disarticulation
trans-radial amputation, commonly referred to as below-elbow or forearm amputation
elbow disarticulation
trans-humeral amputation, commonly referred to as above-elbow amputation
shoulder disarticulation
forequarter amputationA variant of the trans-radial amputation is the Krukenberg procedure in which the radius and ulna are used to create a stump capable of a pincer action.

Other
Facial amputations include but are not limited to:
amputation of the ears
amputation of the nose (rhinotomy)
amputation of the tongue (glossectomy).
amputation of the eyes (enucleation).
amputation of the teeth (dental avulsion). Removal of teeth, mainly incisors, is or was practiced by some cultures for ritual purposes (for instance in the Iberomaurusian culture of Neolithic North Africa).
Breasts:
amputation of the breasts (mastectomy).
Genitals:
amputation of the testicles (castration).
amputation of the penis (penectomy).
amputation of the foreskin (circumcision).
amputation of the clitoris (clitoridectomy).Hemicorporectomy, or amputation at the waist, and decapitation, or amputation at the neck, are the most radical amputations.
Genital modification and mutilation may involve amputating tissue, although not necessarily as a result of injury or disease.

Self-amputation
In some rare cases when a person has become trapped in a deserted place, with no means of communication or hope of rescue, the victim has amputated his or her own limb. The most notable case of this is Aron Ralston, a hiker who amputated his own right forearm after it was pinned by a boulder in a hiking accident and he was unable to free himself for over five days.Body integrity identity disorder is a psychological condition in which an individual feels compelled to remove one or more of their body parts, usually a limb.  In some cases, that individual may take drastic measures to remove the offending appendages, either by causing irreparable damage to the limb so that medical intervention cannot save the limb, or by causing the limb to be severed.

Causes
Circulatory disorders
Diabetic vasculopathy
Sepsis with peripheral necrosis
Peripheral artery disease which can lead to gangrene
A severe deep vein thrombosis (phlegmasia cerulea dolens) can cause compartment syndrome and gangrene

Neoplasm
Cancerous bone or soft tissue tumors (e.g. osteosarcoma, chondrosarcoma, fibrosarcoma, epithelioid sarcoma, Ewings sarcoma, synovial sarcoma, sacrococcygeal teratoma, liposarcoma), melanoma

Trauma
Severe limb injuries in which the limb cannot be saved or efforts to save the limb fail.
Traumatic amputation (an unexpected amputation that occurs at the scene of an accident, where the limb is partially or entirely severed as a direct result of the accident, for example, a finger that is severed from the blade of a table saw)
Amputation in utero (Amniotic band)

Congenital anomalies
Deformities of digits and/or limbs (e.g., proximal femoral focal deficiency, Fibular hemimelia)
Extra digits and/or limbs (e.g., polydactyly)

Infection
Bone infection (osteomyelitis) and/or diabetic foot infections
Gangrene
Trench foot
Necrosis
Meningococcal meningitis
Streptococcus
Vibrio vulnificus
Necrotizing fasciitis
Gas gangrene
Legionella
Influenza A Virus
Animal bites
Sepsis
Bubonic plague

Frostbite
Frostbite is a cold-related injury occurring when an area (typically a limb or other extremity) is exposed to extreme low temperatures, causing the freezing of the skin or other tissues. Its pathophysiology involves the formation of ice crystals upon freezing and blood clots upon thawing, leading to cell damage and cell death. Treatment of severe frostbite may require surgical amputation of the affected tissue or limb; if there is deep injury autoamputation may occur.

Athletic performance
Sometimes professional athletes may choose to have a non-essential digit amputated to relieve chronic pain and impaired performance.

Australian Rules footballer Daniel Chick elected to have his left ring finger amputated as chronic pain and injury was limiting his performance.
Rugby union player Jone Tawake also had a finger removed.
National Football League safety Ronnie Lott had the tip of his little finger removed after it was damaged in the 1985 NFL season.

Criminal penalty
According to Quran 5:38, the punishment for stealing is the amputation of the hand. Under Sharia law, after repeated offense, the foot may also be cut off. This is still in practice today in countries like Brunei, the United Arab Emirates, Iran, Saudi Arabia, Yemen, and 11 states of Northern Nigeria.
The United States considers amputation to be more severe than other punishments but less than death penalty, expressed in the double jeopardy clause: "nor shall any person be subject for the same offence to be twice put in jeopardy of life or limb...". Thomas Jefferson proposed a bill penalizing various crimes with amputation, such as "if a man, by castration, if a woman, by cutting thro the cartilage of her nose a hole of one half inch diameter at the least" and "cutting out or disabling the tongue, slitting or cutting off a nose, lip or ear, branding, or otherwise, shall be maimed or disfigured in like sort: or if that cannot be for want of the same part, then as nearly as may be in some other part of at least equal value and estimation in the opinion of a jury". That bill is not a current law, so it either did not gain enough approval to become law, or it has since been repealed.
As of 2021, this form of punishment is controversial, as most modern cultures consider it to be morally abhorrent, as it has the effect of permanently disabling a person and constitutes torture. It is thus seen as a grossly disproportional for crimes less than those such as murder.

Surgery
Method
The first step is ligating the supplying artery and vein, to prevent hemorrhage (bleeding). The muscles are transected, and finally, the bone is sawed through with an oscillating saw. Sharp and rough edges of bones are filed, skin and muscle flaps are then transposed over the stump, occasionally with the insertion of elements to attach a prosthesis.
Distal stabilisation of muscles is recommended. This allows effective muscle contraction which reduces atrophy, allows functional use of the stump and maintains soft tissue coverage of the remnant bone. The preferred stabilisation technique is myodesis where the muscle is attached to the bone or its periosteum. In joint disarticulation amputations tenodesis may be used where the muscle tendon is attached to the bone. Muscles should be attached under similar tension to normal physiological conditions.An experimental technique known as the "Ewing amputation" aims to improve post-amputation proprioception.In 1920,  Dr. Janos Ertl, Sr. of Hungary, developed the Ertl procedure in order to return a high number of amputees to the work force.  The Ertl technique, an osteomyoplastic procedure for transtibial amputation, can be used to create a highly functional residual limb. Creation of a tibiofibular bone bridge provides a stable, broad tibiofibular articulation that may be capable of some distal weight bearing. Several different modified techniques and fibular bridge fixation methods have been used; however, no current evidence exists regarding comparison of the different techniques.

Post-operative management
A 2019 Cochrane systematic review aimed to determine whether rigid dressings were more effective than soft dressings in helping wounds heal following transtibial (below the knee) amputations. Due to the limited and very low certainty evidence available, the authors concluded that it was uncertain what the benefits and harms were for each dressing type. They recommended that clinicians consider the pros and cons of each dressing type on a case-by-case basis e.g. rigid dressings may potentially benefit patients who have a high risk of falls and soft dressings may potentially benefit patients who have poor skin integrity.A 2017 review found that the use of rigid removable dressings (RRDs) in trans-tibial amputations, rather than soft bandaging, improved healing time, reduced edema, prevented knee flexion contractures and reduced complications, including further amputation, from external trauma such as falls onto the stump.Post-operative management, in addition to wound healing, should consider maintenance of limb strength, joint range, edema management, preservation of the intact limb (if applicable) and stump desensitization.

Trauma
Traumatic amputation is the partial or total avulsion of a part of a body during a serious accident, like traffic, labor, or combat.Traumatic amputation of a human limb, either partial or total, creates the immediate danger of death from blood loss.Orthopedic surgeons often assess the severity of different injuries using the Mangled Extremity Severity Score. Given different clinical and situational factors, they can predict the likelihood of amputation. This is especially useful for emergency physicians to quickly evaluate patients and decide on consultations.

Causes
Traumatic amputation is uncommon in humans (1 per 20,804 population per year). Loss of limb usually happens immediately during the accident, but sometimes a few days later after medical complications. Statistically, the most common causes of traumatic amputations are:
Vehicle accidents (cars, motorcycles, bicycles, trains, etc.)
Labor accidents (equipment, instruments, cylinders, chainsaws, press machines, meat machines, wood machines, etc.)
Agricultural accidents, with machines and mower equipment
Electric shock hazards
Firearms, bladed weapons, explosives
Violent rupture of ship rope or industry wire rope
Ring traction (ring amputation, de-gloving injuries)
Building doors and car doors
Animal attacks
Gas cylinder explosions
Other rare accidents

Treatment
The development of the science of microsurgery over the last 40 years has provided several treatment options for a traumatic amputation, depending on the patients specific trauma and clinical situation:
1st choice: Surgical amputation - break - prosthesis
2nd choice: Surgical amputation - transplantation of other tissue - plastic reconstruction.
3rd choice: Replantation - reconnection - revascularisation of amputated limb, by microscope (after 1969)
4th choice: Transplantation of cadaveric hand (after 2000)

Epidemiology
In the United States in 1999, there were 14,420 non-fatal traumatic amputations according to the American Statistical Association. Of these, 4,435 occurred as a result of traffic and transportation accidents and 9,985 were due to labor accidents. Of all traumatic amputations, the distribution percentage is 30.75% for traffic accidents and 69.24% for labor accidents.
The population of the United States in 1999 was about 300,000,000, so the conclusion is that there is one amputation per 20,804 persons per year. In the group of labor amputations, 53% occurred in laborers and technicians, 30% in production and service workers, 16% in silviculture and fishery workers.
A study found that in 2010, 22.8% of patients undergoing amputation of a lower extremity in the United States were readmitted to the hospital within 30 days.

Prevention
Methods in preventing amputation, limb-sparing techniques, depend on the problems that might cause amputations to be necessary. Chronic infections, often caused by diabetes or decubitus ulcers in bedridden patients, are common causes of infections that lead to gangrene, which would then necessitate amputation.There are two key challenges: first, many patients have impaired circulation in their extremities, and second, they have difficulty curing infections in limbs with poor blood circulation.Crush injuries where there is extensive tissue damage and poor circulation also benefit from hyperbaric oxygen therapy (HBOT). The high level of oxygenation and revascularization speed up recovery times and prevent infections.A study found that the patented method called Circulator Boot achieved significant results in prevention of amputation in patients with diabetes and arteriosclerosis. Another study found it also effective for healing limb ulcers caused by peripheral vascular disease. The boot checks the heart rhythm and compresses the limb between heartbeats; the compression helps cure the wounds in the walls of veins and arteries, and helps to push the blood back to the heart.For victims of trauma, advances in microsurgery in the 1970s have made replantations of severed body parts possible.
The establishment of laws, rules, and guidelines, and employment of modern equipment help protect people from traumatic amputations.

Prognosis
The individual may experience psychological trauma and emotional discomfort. The stump will remain an area of reduced mechanical stability. Limb loss can present significant or even drastic practical limitations.A large proportion of amputees (50–80%) experience the phenomenon of phantom limbs; they feel body parts that are no longer there. These limbs can itch, ache, burn, feel tense, dry or wet, locked in or trapped or they can feel as if they are moving. Some scientists believe it has to do with a kind of neural map that the brain has of the body, which sends information to the rest of the brain about limbs regardless of their existence. Phantom sensations and phantom pain may also occur after the removal of body parts other than the limbs, e.g. after amputation of the breast, extraction of a tooth (phantom tooth pain) or removal of an eye (phantom eye syndrome).
A similar phenomenon is unexplained sensation in a body part unrelated to the amputated limb. It has been hypothesized that the portion of the brain responsible for processing stimulation from amputated limbs, being deprived of input, expands into the surrounding brain, (Phantoms in the Brain: V.S </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Seckel syndrome and can you explain it in depth? [/INST] Seckel syndrome, or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harpers syndrome, Virchow–Seckel dwarfism and bird-headed dwarf of Seckel) is an extremely rare congenital nanosomic disorder </s>


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<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Loeys–Dietz syndrome and can you explain it in depth? [/INST] Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers–Danlos syndrome. The disorder is marked by aneurysms in the aorta, often in children, and the aorta may also undergo sudden dissection in the weakened layers of the wall of the aorta. Aneurysms and dissections also can occur in arteries other than the aorta. Because aneurysms in children tend to rupture early, children are at greater risk for dying if the syndrome is not identified. Surgery to repair aortic aneurysms is essential for treatment.
There are five types of the syndrome, labelled types I through V, which are distinguished by their genetic cause. Type 1, Type 2, Type 3, Type 4 and Type 5 are caused by mutations in TGFBR1, TGFBR2, SMAD3, TGFB2, and TGFB3 respectively. These five genes encoding transforming growth factors play a role in cell signaling that promotes growth and development of the bodys tissues. Mutations of these genes cause production of proteins without function. The skin cells for individuals with Loeys–Dietz syndrome are not able to produce collagen, the protein that allows skin cells to be strong and elastic. This causes these individuals to be susceptible to different tears in the skin such as hernias. Although the disorder has an autosomal pattern of inheritance, this disorder results from a new gene mutation in 75% of cases and occurs in people with no history of the disorder in their family. In other cases it is inherited from one affected parent.Loeys–Dietz syndrome was identified and characterized by pediatric geneticists Bart Loeys and Harry "Hal" Dietz at Johns Hopkins University in 2005.

Signs and symptoms
There is considerable variability in the phenotype of Loeys–Dietz syndrome, from mild features to severe systemic abnormalities. The primary manifestations of Loeys–Dietz syndrome are arterial tortuosity (winding course of blood vessels), widely spaced eyes (hypertelorism), wide or split uvula, and aneurysms at the aortic root. Other features may include cleft palate and a blue/gray appearance of the white of the eyes. Cardiac defects and club foot may be noted at birth.There is overlap in the manifestations of Loeys–Dietz and Marfan syndromes, including increased risk of ascending aortic aneurysm and aortic dissection, abnormally long limbs and fingers, and dural ectasia (a gradual stretching and weakening of the dura mater that can cause abdominal and leg pain). Findings of hypertelorism (widely spaced eyes), bifid or split uvula, and skin findings such as easy bruising or abnormal scars may distinguish Loeys–Dietz from Marfan syndrome.Affected individuals often develop immune system related problems such as allergies to food, asthma, hay fever, and inflammatory disorders such as eczema or inflammatory bowel disease.Findings of Loeys–Dietz syndrome may include:
Skeletal/spinal malformations: craniosynostosis, Scoliosis, spinal instability and spondylolisthesis, Kyphosis
Sternal abnormalities: pectus excavatum, pectus carinatum
Contractures of fingers and toes (camptodactyly)
Long fingers and lax joints
Weakened or missing eye muscles (strabismus)
Club foot
Premature fusion of the skull bones (craniosynostosis)
Joint hypermobility
Congenital heart problems including patent ductus arteriosus (connection between the aorta and the lung circulation) and atrial septal defect (connection between heart chambers)
Translucency of the skin with velvety texture
Abnormal junction of the brain and medulla (Arnold–Chiari malformation)
Bicuspid aortic valves
Criss-crossed pulmonary arteries

Cause
Types (old nomenclature)
Several genetic causes of Loeys–Dietz syndrome have been identified. A de novo mutation in TGFB3, a ligand of the TGF β pathway, was identified in an individual with a syndrome presenting partially overlapping symptoms with Marfan Syndrome and Loeys–Dietz Syndrome.

Diagnosis
Diagnosis involves consideration of physical features and genetic testing. Presence of split uvula is a differentiating characteristic from Marfan Syndrome, as well as the severity of the heart defects. Loeys–Dietz Syndrome patients have more severe heart involvement and it is advised that they be treated for enlarged aorta earlier due to the increased risk of early rupture in Loeys–Dietz patients. Because different people express different combinations of symptoms and the syndrome was first identified in 2005, many doctors may not be aware of its existence.

Treatment
As there is no known cure, Loeys–Dietz syndrome is a lifelong condition. Due to the high risk of death from aortic aneurysm rupture, patients should be followed closely to monitor aneurysm formation, which can then be corrected with vascular surgery. Previous research in laboratory mice has suggested that the angiotensin II receptor antagonist losartan, which appears to block TGF-beta activity, can slow or halt the formation of aortic aneurysms in Marfan syndrome. A large clinical trial sponsored by the National Institutes of Health is currently underway to explore the use of losartan to prevent aneurysms in Marfan syndrome patients. Both Marfan syndrome and Loeys–Dietz syndrome are associated with increased TGF-beta signaling in the vessel wall. Therefore, losartan also holds promise for the treatment of Loeys–Dietz syndrome. In those patients in which losartan is not halting the growth of the aorta, irbesartan has been shown to work and is currently also being studied and prescribed for some patients with this condition.If an increased heart rate is present, a cardioselective beta-1 blocker, with or without losartan, is sometimes prescribed to reduce the heart rate to prevent any extra pressure on the tissue of the aorta. Likewise, strenuous physical activity is discouraged in patients, especially weight lifting and contact sports.

Epidemiology
The incidence of Loeys–Dietz syndrome is unknown; however, Type 1 and 2 appear to be the most common.

References
Further reading
Bertoli-Avella, A. M; Gillis, E; Morisaki, H; Verhagen, J. M. A; De Graaf, B. M; Van De Beek, G; Gallo, E; Kruithof, B. P. T; Venselaar, H; Myers, L. A; Laga, S; Doyle, A. J; Oswald, G; Van Cappellen, G. W </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Saccharopinuria and can you explain it in depth? [/INST]  </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Choroid plexus cyst and can you explain it in depth? [/INST] Choroid plexus cysts (CPCs) are cysts that occur within choroid plexus of the brain. They are the most common type of intraventricular cyst, occurring in 1% of all pregnancies.It is believed that many adults have one or more tiny CPCs. The fetal brain may create these cysts as a normal part of development. They are temporary and usually are gone by the 32nd week of pregnancy.CPCs are a rare cause of intermittent hydrocephalus. This is caused by a blockage of foramina within the ventricular drainage system of the central nervous system (CNS), which can lead to expansion of the ventricles, compressing the brain (the cranial cavity cannot expand to accommodate the increase in fluid volume) and possibly causing damage.

Pathology
The brain contains pockets or spaces called ventricles with a spongy layer of cells and blood vessels called the choroid plexus. This is in the middle of the fetal brain. The choroid plexus has the important function of producing cerebrospinal fluid. The fluid produced by the cells of the choroid plexus fills the ventricles and then flows around the brain and the spinal cord to provide a cushion of fluid around these structures.CPCs can form within this structure and come from fluid trapped within this spongy layer of cells, much like a soap bubble or a blister. CPCs are often called "soft signs" or fetal ultrasound "markers" because some studies have found a weak association between CPCs and fetal chromosome abnormalities.Choroid plexus cysts are usually asymptomatic and disappears by 26 to 28 weeks of pregnancy. However, large cysts can cause hydrocephalus.

Genetic causes
There is a possible association between ultrasound-detected fetal CPCs and Trisomy 18.  It is not correlated to the presence of Trisomy 21 (Down syndrome). Therefore, genetic counseling is often recommended to provide more information about fetal CPCs, to answer questions and concerns, and to outline available options such as amniocentesis or a blood test from the mother.Generally the risks are very low if there are no other risk factors. If no additional abnormalities are detected by a thorough "level II" ultrasound, the likelihood the fetus has trisomy 18 is very low.A meta-analysis of 8 studies between 1990 and 2000 with choroid plexus cysts that were identified in second-trimester (an incidence of 1.2%). The incidence of the cysts in women younger than 35 was 1% (n=1017). The study found no cases of trisomy 18 in fetuses with cysts whose mother was younger than 35. The study concluded that "there is no evidence that detection of isolated choroid plexus cyst in women who are <35 years of age increases the risk of trisomy 18".Other factors which may have a bearing on the babys chances of developing chromosome problems include:
mothers age at the expected date of delivery
the results of serum screening; XAFP triple testing or quad screening
evidence of other "fetal findings" seen at the time of the ultrasound that may suggest a chromosome problem

References
Further reading
Lun, Melody P.; Monuki, Edwin S.; Lehtinen, Maria K. (2015). "Development and functions of the choroid plexus–cerebrospinal fluid system". Nature Reviews Neuroscience. 16 (8): 445–457. doi:10.1038/nrn3921. PMC 4629451. PMID 26174708.
Rochon, Meredith; Eddleman, Keith (March 2004). "Controversial ultrasound findings". Obstetrics and Gynecology Clinics of North America. 31 (1): 61–99. doi:10.1016/S0889-8545(03)00123-2. PMID 15062448.
McKinney, Alexander M. (2017). "Choroid Plexus: Normal Locations and Appearances". Atlas of Normal Imaging Variations of the Brain, Skull, and Craniocervical Vasculature. Springer International Publishing. pp. 177–237. doi:10.1007/978-3-319-39790-0_11. ISBN 978-3-319-39790-0.
Aktürk, Erhan; Güler, Aşkın Evren (26 March 2020). "Review of fetal choroid plexus cysts: A cross-sectional study on 9244 pregnant women". Journal of Surgery and Medicine. doi:10.28982/josam.706887.
DeRoo, TR; Harris, RD; Sargent, SK; Denholm, TA; Crow, HC (December 1988) </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Myositis and can you explain it in depth? [/INST] Myositis is a rare disease that involves inflammation of the muscles. This can present with a variety of symptoms such as skin involvement (i.e., rashes), muscle weakness, and other organ involvement. You can also have systemic symptoms such as weight loss, fatigue, and low fever.

Causes
Injury, medicines, infection, or an autoimmune disorder can lead to myositis. It can also be idiopathic.

Injury - A mild form of myositis can occur with hard exercise. A more severe form of muscle injury, called rhabdomyolysis, is also associated with myositis. This is a condition where injury to your muscles causes them to quickly break down.
Medicines - A variety of different medicines can cause myositis. One of the most common drug types that can cause myositis is statins. Statins are drugs that are used to help lower high cholesterol. One of the most common side effects of statin therapy is muscle pain. Rarely, statin therapy can lead to myositis.
Infection - The most common infectious cause of myositis is viral infections, such as the common cold. Viruses, such as COVID-19, are also shown to be a rare cause of myositis.
Autoimmune - Normally, if you get an infection, your immune system attacks the bacteria/virus that is making you sick. In autoimmune diseases, your immune system gets confused and instead starts attacking your body. In the case of myositis, your immune system attacks your muscles. The three main types of autoimmune myositis are dermatomyositis, polymyositis, and inclusion body myositis. Other autoimmune diseases, such as systemic lupus erythematosus, can also cause myositis-like symptoms.

Diagnosis
There are various tools that can be used to help diagnose myositis. The most common ones are: physical exam, electromyography, magnetic resonance imaging, muscle biopsy, and blood tests.
The first thing your doctor will likely do is perform a physical exam. They will look for various things such as muscle weakness and rashes.
Another possible test is an electromyography (EMG). This is a test that inserts tiny needles into your muscles. This allows a physician to look at your muscles’ response to various electrical nerve signals and evaluate which muscles potentially have myositis.
Magnetic resonance imaging (MRI) is also useful. This is a test that uses a big magnet to create images on a computer. This allows a physician to examine your muscles. It is painless.
Muscle biopsies are the most reliable tests for diagnosing myositis. It will tell your doctor for certain if you have myositis or not.
There are also a variety of blood tests available that help in the diagnoses of myositis. Your doctor may look for elevation of creatine kinase in blood, which is indicative of muscle inflammation. Certain autoantibodies (antibodies that target your muscle cells) can also be found in the blood that can indicate that myositis is caused by an autoimmune disease. Some specific examples of autoantibodies are Anti-Jo-1, Anti-HMGCR, Anti-TIF1, etc.

Treatment
Treatment for myositis depends on the underlying cause </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Alström syndrome and can you explain it in depth? [/INST] Alström syndrome (AS), also called Alström–Hallgren syndrome, is a very rare autosomal recessive genetic disorder characterised by childhood obesity and multiple organ dysfunction. Symptoms include early-onset type 2 diabetes, cone-rod dystrophy resulting in blindness, sensorineural hearing loss and dilated cardiomyopathy. Endocrine disorders typically also occur, such as hypergonadotrophic hypogonadism and hypothyroidism, as well as acanthosis nigricans resulting from hyperinsulinemia. Developmental delay is seen in almost half of people with Alström syndrome.It is caused by mutations in the gene ALMS1, which is involved in the formation of cellular cilia, making Alström syndrome a ciliopathy. At least 239 disease-causing mutations in ALMS1 have been described as of 2015. Alström syndrome is sometimes confused with Bardet–Biedl syndrome, another ciliopathy which has similar symptoms, but Bardet–Biedl syndrome tends to have later onset in its symptoms, includes polydactyly and is caused by mutations in BBS genes.There is no cure for Alström syndrome. Treatments target the individual symptoms and can include diet, corrective lenses, hearing aids, medications for diabetes and heart issues and dialysis and transplantation in the case of kidney or liver failure. Prognosis varies depending on the specific combination of symptoms, but individuals with Alström syndrome rarely live beyond 50.At least 900 cases have been reported. Prevalence is fewer than 1 in 1,000,000 individuals in the general population, but the disorder is much more common in Acadians, both in Nova Scotia and Louisiana. It was first described by Swedish psychiatrist Carl-Henry Alström and his three associates, B. Hallgren, I. B. Nilsson and H. Asander, in 1959.

Signs and symptoms
Symptoms for Alström syndrome generally appear during infancy with great variability in age. Some of the symptoms include:
Heart failure (dilated cardiomyopathy) in over 60% of cases, usually within the first few weeks after birth, but sometimes the onset is in adolescence or adulthood.
Light sensitivity and vision problems (cone-rod dystrophy) in all cases, usually within 15 months of birth and progressively worsening until about 20 years of age
Delays in early, developmental milestones in 50% of cases, learning disabilities in about 30% of cases
Obesity in 100% of cases, apparent by 5 years of age but often apparent in infancy (Alström infants usually have normal birth weights, and by adolescence, weights tend to be in the high-normal to normal range.)
Nystagmus (usually affects the children), one of the first symptoms to occur which causes involuntary rapid eye movement.
Mild to moderate bilateral sensorineural hearing loss.
Type 2 diabetes usually occurs in early childhood.
Hyperinsulinemia/insulin resistance—development of high level of insulin in blood.
Hypertriglyceridemia
Steatosis (fatty liver) and elevated transaminases (liver enzymes) often develop in childhood and can progress in some patients to cirrhosis and liver failure.
Endocrine dysfunctions may occur where the patient may experience an under or over active thyroid gland, weak growth hormone, increased androgen in females and low testosterone in males.
Slowly progressive kidney failure can occur in the second to fourth decade of life.

Cause
Alström syndrome is caused by a mutation in the ALMS1 gene, located on the short arm of chromosome 2 (2p13.2). The gene mutation is inherited as an autosomal recessive trait. This means both parents have to pass a defective copy of the ALMS1 gene in order for their child to have the syndrome, even though the parents may not show signs or symptoms of the condition.The ALMS1 gene contains instructions to encode a specific protein known as ALMS1. The protein then is involved in ciliary function, cell cycle control and intracellular transport. In addition, the protein is expressed in all organ tissues of the body. It has a role in the proper function, maintenance and formation of cilia, which are found in all types of cells in the body. At least 239 disease-causing mutations in ALMS1 have been described as of 2015. Most of these mutations have led to the production of a dysfunctional version of the ALSM1 protein which are present in tissues, but at low levels.

Diagnosis
It is possible to clinically detect Alström syndrome in infancy, but more frequently, it is detected much later, as doctors tend to detect symptoms as separate problems. Currently, Alström syndrome is often diagnosed clinically, since genetic testing is costly and only available on a limited basis.A physical examination would be needed to properly diagnose the patient. Certain physical characteristics can determine if the patient has some type of genetic disorder. Usually, a geneticist would perform the physical examination by measuring the distance around the head, distance between the eyes and the length of arms and legs. In addition, examinations for the nervous system or the eyes may be performed. Various imaging studies like computerized tomography scans (CT), Magnetic Resonance Imaging (MRI) or X-rays are used to see the structures within the body.Family and personal medical history are required. Information about the health of an individual is crucial because it provides traces to a genetic diagnosis.Laboratory tests, particularly genetic testing, are performed to diagnose genetic disorders. Some of the types of genetic testing are molecular, biochemical and chromosomal. Other laboratory tests performed may measure levels of certain substances in urine and blood that can also help suggest a diagnosis.

Related disorders
Recent findings in genetic research have suggested that a large number of genetic disorders, both genetic syndromes and genetic diseases, that were not previously identified in the medical literature as related, may be, in fact, highly related in the genetypical root cause of the widely varying, phenotypically-observed disorders. Thus, Alstrom syndrome is a ciliopathy. Other known ciliopathies include primary ciliary dyskinesia, Bardet–Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Meckel–Gruber syndrome and some forms of retinal degeneration.

Diagnostic criteria
Marshall JD et al. provided a comprehensive guidance for diagnostic criteria in their 2007 publication.Birth – 2 years:
Minimum diagnosis requires 2 major criteria or 1 major and 2 minor criteria.
Major criteria are:

ALMS1 mutation in 1 allele and/or family history of Alström syndrome
Vision pathology (nystagmus, photophobia).Minor criteria are:

Obesity
Dilated cardiomyopathy with congestive heart failure.Other variable supportive evidence:
Recurrent pulmonary infections, normal digits, delayed developmental milestones.
At 3–14 years of age:
2 major criteria or 1 major and 3 minor criteria.
Major criteria are:

ALMS1 mutation in 1 allele and/or family history of Alström syndrome,
Vision pathology (nystagmus, photophobia, diminished acuity). If old enough for testing: cone dystrophy by ERG.Minor criteria:

Obesity and/or insulin resistance and/or Type 2 Diabetes
History of dilated cardiomyopathy with congestive heart failure
Hearing loss
Liver dysfunction
Kidney failure
Advanced bone ageVariable supportive evidence:
Recurrent pulmonary infections, normal digits, delayed developmental milestones, hyperlipidemia, scoliosis, flat wide feet
hypothyroidism, hypertension, recurrent urinary tract infection, growth hormone deficiency.
Presentation 15 years – adulthood:
2 major and 2 minor criteria or 1 major and 4 minor criteria.
Major criteria are:

ALMS1 mutation in 1 allele and/or family history of Alström syndrome.
Vision pathology (history of nystagmus in infancy/childhood, legal blindness, cone and rod dystrophy by ERG).Minor criteria:

Obesity and/or insulin resistance and/or Type 2 Diabetes
History of dilated cardiomyopathy with congestive heart failure.
Hearing loss
Hepatic dysfunction
Renal failure
Short stature
Males: hypogonadism, Females: irregular menses and/or hyperandrogenismOther supportive features:
Recurrent pulmonary infections, normal digits, history of developmental delay, hyperlipidemia, scoliosis, flat wide feet,
hypothyroidism, hypertension, recurrent urinary tract infections/urinary dysfunction, growth hormone deficiency, alopecia.

Prevention
Prevention for Alström syndrome is considered to be harder compared to other diseases/syndromes because it is an inherited condition. However, there are other options that are available for parents with a family history of Alström syndrome. Genetic testing and counseling are available where individuals are able to meet with a genetic counselor to discuss risks of having the children with the disease. The genetic counselor may also help determine whether individuals carry the defective ALSM1 gene before the individuals conceive a child. Some of the tests the genetic counselors perform include chorionic villus sampling (CVS), preimplantation genetic diagnosis (PGD) and amniocentesis. With PGD, the embryos are tested for the ALSM1 gene and only the embryos that are not affected may be chosen for implantation via in vitro fertilization.

Treatment
There is no cure for Alström syndrome; however, there are treatment aims to reduce the symptoms and prevent further complications. Some of these treatment aims include:
Corrective lenses: tinted lenses that help with the sensitivity from bright lights. The patients may have to adapt to reading in Braille, use adaptive equipment, mobility aids and adaptive computing skills.
Education: patients with Alström syndrome who have  intellectual disabilities must have access to education. They must be able to receive free and appropriate education. Some Alström syndrome patients are educated in normal classrooms. Other patients have to take special education classes or attend to specialized schools that are prepared to teach children with disabilities. Staff members from schools have to consult with patients parents or caregivers in order to design an education plan based on the childs needs. In addition, the school may document the progress of the child in order to confirm that the childs needs are being met.
Hearing aids: the battery-operated devices are available in three styles: behind the ear, in the ear and inside the ear canal. Behind the ear aims for mild-to-profound hearing loss. In the ear aims for mild to severe hearing loss. Lastly, the canal device is aimed for mild to moderately severe hearing loss. Patients that have severe hearing loss may benefit from a cochlear implant.
Diet: an appropriate and healthy diet is necessary for individuals with Alström syndrome because it could potentially decreases chances of obesity or diabetes.
Occupational therapy: the therapist helps the child learn skills to help him or her perform basic daily tasks like eating, getting dressed and communicating with others.
Physical Activity: exercising reduces chances of being obese and helping control blood sugar levels.
Dialysis: helps restore filtering function. With hemodialysis, a patients blood circulates into an external filter and clean. The filtered blood is then returned into the body. With peritoneal dialysis, fluid containing dextrose is introduced into the abdomen by a tube. The solution then absorbs the wastes into the body and is then removed.
Transplantation: patients that endure a kidney failure may undergo a kidney transplantation.
Surgery: if the patient endures severe scoliosis or kyphosis, surgery may be required.

Medication
Antibiotics: patients with lung problems will be prescribed antibiotics because they are more prone to infections like bronchitis.
Oral diabetes medications: are taken by mouth to treat diabetes. Can be taken combined into a single pill, which may be more effective and convenient for people with diabetes. It is usually taken once or twice daily before meals. Some of these medications includes:
Meglitinides (repaglinide and nateglinide): taken to stimulate the cells found in the pancreas to release insulin. These drugs are taken by mouth daily before each meal and could cause a drop in blood sugar.
Metformin (biguanide): decreases the amount blood sugar being released by the liver and by stimulating the cells within muscles to take up blood sugar. Taken twice daily.
Thiazolidinediones (rosiglitazone and pioglitazone): taken to help insulin work more efficiently in muscle and fat cells causing the liver to release less glucose. Is associated with heart failure.
Dipeptidyl peptidase IV (DPP-4) inhibitors (sitagliptin): helps with improving blood sugar levels by decreasing the action of an enzyme breaking down GLP-1 (lowers the blood sugar level).
Injected diabetes medicine: taken by an injection into the fat below the skin. Sometimes referred as subcutaneous injections. Some of these medications include the following:
Pramlintide (Symlin): is an Amylin agonist. It acts centrally (via the brain) to reduce food intake and blood sugar. It is most commonly used at mealtimes by people with type 1 and type 2 diabetes.
Exenatide (Byetta): synthetic form of exendin-4 ( a GLP-1 receptor agonist that increases secretion of insulin, decreases the secretion of glucagon from the pancreas and reduces food intake).
Cholesterol-lowering medications: is necessary when cholesterol levels are high. HMG-CoA reductase inhibitors, also called "statins," effectively lower levels of low-density lipoprotein, cholesterol and triglycerides. High-dose nicotinic acid (niacin) may also reduce cholesterol levels.
Heart medications: Angiotensin-converting enzyme (ACE) inhibitors, diuretics, digoxin and beta-blockers may help with the management of cardiomyopathy and heart failure.

Prognosis
A prognosis for Alström syndrome is complicated because it widely varies. Any person that has the syndrome have different set of disorders. Permanent blindness, deafness and type 2 diabetes may occur. Liver and kidney failure can progressively get worse. The life expectancy is usually reduced and the patients rarely live past 50 years old.

Research
The Jackson Laboratory in Bar Harbor, Maine, USA with the University of Southampton, UK isolated the single gene (ALMS1) responsible for Alström syndrome.Research was conducted in 2014 on Alström syndrome patients regarding degeneration and plasticity of the optic pathway. The functional and structural changes have been investigated on the optic pathway in Alström syndrome by using magnetic resonance imaging to provide better insight on the underlying pathogenic mechanisms. Eleven patients with the syndrome (mean age of 23 years, 5 females, 6 males) underwent a brain MRI. The protocol also included conventional sequences, resting-state functional MRI and diffusion tensor imaging. Results found that patients with Alström syndrome had occipital regions with decreased white matter volume as well as decreased gray matter volume sparing the occipital poles. The diffused fractional anisotropy decreased and the radial diffusivity increased while mean and axial diffusivities were normal. Lastly, the reduced connectivity in the medial visual network was strikingly sparing the occipital poles </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Staphylococcal infection and can you explain it in depth? [/INST] A staphylococcal infection or staph infection is an infection caused by members of the Staphylococcus genus of bacteria.
These bacteria commonly inhabit the skin and nose where they are innocuous, but may enter the body through cuts or abrasions which may be nearly invisible.  Once inside the body, the bacteria may spread to a number of body systems and organs, including the heart, where the toxins produced by the bacteria may cause cardiac arrest.  Once the bacterium has been identified as the cause of the illness, treatment is often in the form of antibiotics and, where possible, drainage of the infected area.  However, many strains of this bacterium have become antibiotic resistant; for those with these kinds of infection, the bodys own immune system is the only defense against the disease.  If that system is weakened or compromised, the disease may progress rapidly.  Anyone can contract staph, but pregnant women, children, and people with chronic diseases or who are immuno-deficient are often more susceptible to contracting an infection.

Types
Other infections include:

Closed-space infections of the fingertips, known as paronychia.
Suspected involvement in atopic dermatitis (eczema), including related clinical trials.

Coagulase-positive
The main coagulase-positive staphylococcus is Staphylococcus aureus, although not all strains of Staphylococcus aureus are coagulase positive. These bacteria can survive on dry surfaces, increasing the chance of transmission. S. aureus is also implicated in toxic shock syndrome; during the 1980s some tampons allowed the rapid growth of S. aureus, which released toxins that were absorbed into the bloodstream. Any S. aureus infection can cause the staphylococcal scalded skin syndrome, a cutaneous reaction to exotoxin absorbed into the bloodstream. It can also cause a type of septicaemia called pyaemia. The infection can be life-threatening. Problematically, methicillin-resistant Staphylococcus aureus (MRSA)  has become a major cause of hospital-acquired infections. MRSA has also been recognized with increasing frequency in community-acquired infections. The symptoms of a Staph Infection include a collection of pus, such as a boil or furuncle, or abscess. The area is typically tender or painful and may be reddened or swollen.

Coagulase-negative
S. epidermidis, a coagulase-negative staphylococcus species, is a commensal of the skin, but can cause severe infections in immune-suppressed patients and those with central venous catheters.
S. saprophyticus, another coagulase-negative species that is part of the normal vaginal flora, is predominantly implicated in uncomplicated lower genitourinary tract infections in young sexually active women.
Other staphylococcal species have been implicated in human infections, notably S. lugdunensis, S. schleiferi, and S. caprae.

Causes
Staph infections have a multitude of different causes, such as:

Open wounds – This is by far the biggest cause of staph infection. Any open wound, even ones as small as a paper cut, are vulnerable to being infected. Staph bacteria will enter the body through any open wound, so it is important to properly treat, disinfect, and bandage any wounds.
Contact with infected persons or surfaces – Staph infections are very contagious when in contact with a person that is already infected. A person with staph infection is contagious until the bacteria are completely out of their body, and any wounds from the infection are healed. It is common to see the spread of staph in contact sports; i.e. wrestling, through contact in locker rooms, or by sharing any equipment.
Weakened immune system – Anyone with a weakened immune system for any reason can be more easily affected by staph bacteria, because their bodies are unable to defend against infectious bacteria as well.
Unwashed linens – Staph bacteria are very resistant under harsh conditions, and they will cling to objects where they can create a niche. Unwashed bath towels, blanket, bed sheets, and clothes can create a great environment for these bacteria to grow. This is important to recognize, because every single day people use linens in their daily lives.
Infection after surgery – Hospitals are a very common place for staph bacteria to contaminate. This becomes problematic when people are in surgery, because in some cases staph can be introduced to a persons body when an incision is opened.
Invasive devices – Medical devices that have any connection to organs to the outside of the body are very problematic, because they allow an easy open pathway into the body. Examples of these devices are; catheters, dialysis tubing, feeding tubes, breathing tubes, etc.

Signs and symptoms
Staph infection is typically characterized by redness, pus, swelling, and tenderness in areas of the infection. But, each type of skin infection caused by staph bacteria is different.
A few common skin infections caused by staph bacteria are:

Boils – Boils are the most common type of staph infection, they are pockets of white pus that start where a hair follicle or oil gland is. The boil is tender and red where the infection is located on the skin.
Impetigo – Impetigo is most prominent among children, and is usually located around their mouth, nose, hands, and feet </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Sirenomelia and can you explain it in depth? [/INST] Sirenomelia, also called mermaid syndrome, is a rare congenital deformity in which the legs are fused together, giving the appearance of a mermaids tail, hence the nickname.

Classification
Sirenomelia is classified by the skeletal structure of the lower limb, ranging from class I, where all bones are present and only the soft tissues are fused, to class VII where the only bone present is a fused femur.It has also been classified as an expanded part of the VACTERL association and as a form of caudal regression syndrome.

Presentation
Sirenomelia is mainly characterized by the fusion of both legs with rotation of the fibula. It may include the absence of the lower spine, as well as abnormalities of the pelvis and renal organs.  It was previously thought to be a severe form of sacral agensis/caudal regression syndrome, but more recent research confirms that these two conditions are not related. NORD has a separate report on caudal regression syndrome. In general, the more severe cases of limb fusion correlate with more severe dysplasia in the pelvis. Rather than the two iliac arteries present in fetuses with complete renal agenesis, fetuses with sirenomelia display no branching of the abdominal aorta, which is always absent.Associated defects recorded in cases of sirenomelia include neural tube defects (rachischisis, anencephaly, and spina bifida), holoprosencephaly, hypoplastic left heart syndrome, other heart defects, esophageal atresia, omphalocele, intestinal malrotation, persistent cloaca, and other limb defects (most commonly absence of the radius).

Causes
The ultimate cause of sirenomelia is a subject of debate. The first hypothesis of its origin was developed in 1927 and proposed that a lack of blood supply to the lower limbs during their development is responsible for the defect. This "vascular steal" hypothesis was developed in response to the observed absence or severe underdevelopment of the aorta below the umbilical artery, which "steals" the blood supply from the lower limbs. Other hypotheses involve an insult to the embryo between 28 and 32 days affecting the caudal mesoderm, a teratogen exposure affecting the neural tube during neurulation, and a defect in the twinning process that either stops the process of caudal differentiation or generates a second primitive streak.Maternal diabetes mellitus has been associated with caudal regression syndrome and sirenomelia, although a few sources question this association. Prenatal cocaine exposure has also been suggested as an association with sirenomelia.

Genetics
In animal models, several genes have been found to cause or be associated with sirenomelia. The srn (siren) gene is observed to cause hindlimb fusion in homozygous mice. Mice with knockouts or mutations in both tsg1 and bmp7 will also have hindlimb fusion.

Diagnosis
Though obvious at birth, sirenomelia can be diagnosed as early as 14 weeks gestation on prenatal ultrasound. When there is low amniotic fluid around the fetus (oligohydramnios), the diagnosis is more difficult.

Prognosis
Sirenomelia is usually fatal. Many pregnancies with a sirenomelic fetus spontaneously miscarry. One-third to one-half of infants are stillborn, with all but a few dying in the neonatal period.In cases of monoamniotic twins where one is affected, the twin with sirenomelia is protected from Potter sequence (particularly pulmonary hypoplasia and abnormal facies) by the normal twins production of amniotic fluid.

Epidemiology
This condition is found in approximately one out of every 100,000 live births; studies produce rates from 1 in 68,741 to 1 in 97,807. It is 100 to 150 times more likely in identical (monozygotic) twins than in singletons or fraternal twins. Sirenomelia is not associated with any ethnic background, but fetuses with sirenomelia are more likely to be male.

Etymology
The word sirenomelia derives from the ancient Greek word seirēn, referring to the mythological Sirens, who were sometimes depicted as mermaids, and melos, meaning "limb".

History
Sirenomelia was first reported in 1542. In 1927, Otto Kampmeier discovered the association between sirenomelia and single umbilical artery.

Notable individuals
Only a few individuals who had some functioning kidney tissue have survived the neonatal period.

Tiffany Yorks
Tiffany Yorks of Clearwater, Florida (May 7, 1988 – February 24, 2016) underwent successful surgery in order to separate her legs before she was a year old. She was the longest-surviving sirenomelia patient to date. She had mobility issues due to her fragile leg bones, and compensated by using crutches or a wheelchair. She died on February 24, 2016, at the age of 27.

Shiloh Pepin
Shiloh Jade Pepin (August 4, 1999 – October 23, 2009) was born in Kennebunkport, Maine, United States with her lower extremities fused, no bladder, no uterus, no rectum, only 6 inches of large intestine, no vagina, only one quarter of a kidney and one ovary. Her parents initially anticipated she could expect only a few months of life. At age 4 months, her natural kidney failed, and she began dialysis. A kidney transplant at age 2 lasted a number of years, and in 2007 a second kidney transplant was successful. She attended Consolidated Elementary School. She remained hopeful about her disease and joked often and lived her life happily, despite her challenges, as seen in her TLC documentary in "Extraordinary People: Mermaid Girl". Shiloh and her family were debating surgery because of the risks involved, even though it would improve her quality of life. Many people who have this condition undergo surgery when they are young, but Shiloh was already 8 years old in the documentary and had not undergone surgery.  Shiloh was the only one of the three survivors of sirenomelia without surgery for separation of the conjoined legs.  She died of pneumonia on October 23, 2009, at Maine Medical Center in Portland, Maine, at the age of 10; having appeared on the Oprah Winfrey Show on September 22, 2009 </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Delirium tremens and can you explain it in depth? [/INST] Delirium tremens (DTs) is a rapid onset of confusion usually caused by withdrawal from alcohol. When it occurs, it is often three days into the withdrawal symptoms and lasts for two to three days. Physical effects may include shaking, shivering, irregular heart rate, and sweating. People may also hallucinate. Occasionally, a very high body temperature or seizures may result in death. Alcohol is one of the most dangerous drugs to withdraw from.Delirium tremens typically only occurs in people with a high intake of alcohol for more than a month. A similar syndrome may occur with benzodiazepine and barbiturate withdrawal. Withdrawal from stimulants such as cocaine do not have major medical complications. In a person with delirium tremens it is important to rule out other associated problems such as electrolyte abnormalities, pancreatitis, and alcoholic hepatitis.Prevention is by treating withdrawal symptoms. If delirium tremens occurs, aggressive treatment improves outcomes. Treatment in a quiet intensive care unit with sufficient light is often recommended. Benzodiazepines are the medication of choice with diazepam, lorazepam, chlordiazepoxide, and oxazepam all commonly used. They should be given until a person is lightly sleeping. The antipsychotic haloperidol may also be used. The vitamin thiamine is recommended. Mortality without treatment is between 15% and 40%. Currently death occurs in about 1% to 4% of cases.About half of people with alcoholism will develop withdrawal symptoms upon reducing their use. Of these, 3% to 5% develop DTs or have seizures.The name delirium tremens was first used in 1813; however, the symptoms were well described since the 1700s. The word "delirium" is Latin for "going off the furrow," a plowing metaphor. It is also called the shaking frenzy and Saunders-Sutton syndrome. There are numerous nicknames for the condition, including "the DTs" and "seeing pink elephants" (see below).

Signs and symptoms
The main symptoms of delirium tremens are nightmares, agitation, global confusion, disorientation, visual and auditory hallucinations, tactile hallucinations, fever, high blood pressure, heavy sweating, and other signs of autonomic hyperactivity (fast heart rate and high blood pressure). These symptoms may appear suddenly but typically develop two to three days after the stopping of heavy drinking, being worst on the fourth or fifth day.These symptoms are characteristically worse at night. In general, DT is considered the most severe manifestation of alcohol withdrawal and occurs 3–10 days following the last drink.Other common symptoms include intense perceptual disturbance such as visions of insects, snakes, or rats. These may be hallucinations or illusions related to the environment, e.g., patterns on the wallpaper or in the peripheral vision that the patient falsely perceives as a resemblance to the morphology of an insect, and are also associated with tactile hallucinations such as sensations of something crawling on the subject—a phenomenon known as formication. Delirium tremens usually includes extremely intense feelings of "impending doom". Severe anxiety and feelings of imminent death are common DT symptoms.DT can sometimes be associated with severe, uncontrollable tremors of the extremities and secondary symptoms such as anxiety, panic attacks, and paranoia. Confusion is often noticeable to onlookers as those with DT will have trouble forming simple sentences or making basic logical calculations.DT should be distinguished from alcoholic hallucinosis, the latter of which occurs in approximately 20% of hospitalized alcoholics and does not carry a risk of significant mortality. In contrast, DT occurs in 5–10% of alcoholics and carries up to 15% mortality with treatment and up to 35% mortality without treatment.

Causes
Delirium tremens is mainly caused by a long period of drinking being stopped abruptly. Withdrawal leads to a biochemical regulation cascade.Delirium tremens is most common in people who are in alcohol withdrawal, especially in those who drink the equivalent of 7 to 8 US pints (3 to 4 L) of beer or 1 US pint (0.5 L) of distilled beverage daily. Delirium tremens commonly affects those with a history of habitual alcohol use or alcoholism that has existed for more than 10 years.

Pathophysiology
Delirium tremens is a component of alcohol withdrawal hypothesized to be the result of compensatory changes in response to chronic heavy alcohol use. Alcohol positively allosterically modulates the binding of GABA, enhancing its effect and resulting in inhibition of neurons projecting into the nucleus accumbens, as well as inhibiting NMDA receptors.  This combined with desensitization of alpha-2 adrenergic receptors, results in a homeostatic upregulation of these systems in chronic alcohol use.When alcohol use ceases, the unregulated mechanisms result in hyperexcitability of neurons as natural GABAergic systems are down-regulated and excitatory glutamatergic systems are unregulated.  This combined with increased noradrenergic activity results in the symptoms of delirium tremens.

Diagnosis
Diagnosis is mainly based on symptoms. In a person with delirium tremens it is important to rule out other associated problems such as electrolyte abnormalities, pancreatitis, and alcoholic hepatitis.

Treatment
Delirium tremens due to alcohol withdrawal can be treated with benzodiazepines. High doses may be necessary to prevent death. Amounts given are based on the symptoms. Typically the person is kept sedated with benzodiazepines, such as diazepam, lorazepam, chlordiazepoxide, or oxazepam.
In some cases antipsychotics, such as haloperidol may also be used. Older drugs such as paraldehyde and clomethiazole were formerly the traditional treatment but have now largely been superseded by the benzodiazepines.Acamprosate is occasionally used in addition to other treatments, and is then carried on into long-term use to reduce the risk of relapse. If status epilepticus occurs it is treated in the usual way.It can also be helpful to provide a well lit room as people often have hallucinations.Alcoholic beverages can also be prescribed as a treatment for delirium tremens, but this practice is not universally supported.High doses of thiamine often by the intravenous route is also recommended.

Society and culture
Nicknames for delirium tremens include "the DTs", "the shakes", "the oopizootics", "barrel-fever", "the blue horrors", "bottleache", "bats", "the drunken horrors", "seeing pink elephants", "gallon distemper", "quart mania", "heebie jeebies", "pink spiders", and "riding the ghost train", as well as "ork orks", "the zoots", "the 750 itch", and "pint paralysis".  Another nickname is "the Brooklyn Boys",  found in Eugene ONeills one-act play Hughie set in Times Square in the 1920s.English author George Eliot provides a case involving delirium tremens in her novel Middlemarch (1871–72). Alcoholic scoundrel John Raffles, both an abusive stepfather of Joshua Riggs and blackmailing nemesis of financier Nicholas Bulstrode, dies, whose "death was due to delirium tremens" while at Peter Featherstones Stone Court property. Housekeeper Mrs. Abel provides Raffles final night of care per Bulstrodes instruction whose directions given to Abel stand adverse to Dr. Tertius Lydgates orders.

"Remember, if he calls for liquors of any sort, not to give it to him." (Lydgate to Bulstrode). "...he gave directions to Bulstrode as to the doses, and the point at which they should cease. He insisted on the risk of not ceasing, and repeated his order that no alcohol should be given.
(Bulstrode reflecting): "The thought was, that he had not told Mrs. Abel when the dose of opium must cease. ... He walked up-stairs, candle in hand, not knowing whether he should straitaway enter his own room and go to bed, or turn to the patients room and rectify his omission. ... He turned to his own room. Before he had quite undressed, Mrs. Abel rapped at his door ...If you please sir, should I have no brandy nor nothing to give the poor creetur? ...When I nursed my poor master, Mr. Robisson, I had to give him port-wine and brandy constant, and a big glass at a time, added Mrs. Abel with a touch of remonstrance in her tone. ...a key was thrust through the inch of doorway, and Mr. Bulstrode said huskily, That is the key of the wine-cooler. You will find plenty of brandy there."
French writer Émile Zolas novel The Drinking Den (LAssommoir) includes a character – Coupeau, the main character Gervaises husband – who has delirium tremens by the end of the book.
American writer Mark Twain describes an episode of delirium tremens in his book The Adventures of Huckleberry Finn (1884). In chapter 6, Huck states about his father, "After supper pap took the jug, and said he had enough whisky there for two drunks and one delirium tremens. That was always his word." Subsequently, Pap Finn runs around with hallucinations of snakes and chases Huck around their cabin with a knife in an attempt to kill him, thinking Huck is the "Angel of Death".
One of the characters in Joseph Conrads novel Lord Jim experiences "DTs of the worst kind" with symptoms that include seeing millions of pink frogs.
English author M. R. James mentions delirium tremens in his 1904 ghost story "Oh, Whistle, and Ill Come to You, My Lad". Professor Parkins while staying at the Globe Inn when in coastal Burnstow to "improve his game" of golf, despite being "a convinced disbeliever in what is called the supernatural", when face to face with an entity in his "double-bed room" during the storys climax, is heard "uttering cry upon cry at the utmost pitch of his voice" though later "was somehow cleared of the ready suspicion of delirium tremens".
In the 1945 film The Lost Weekend, Ray Milland won the Academy Award for Best Actor for his depiction of a character who experiences delirium tremens after being hospitalized, hallucinating that he saw a bat fly in and eat a mouse poking through a wall.Writer Jack Kerouac details his experiences with delirium tremens in his book Big Sur.The M*A*S*H TV series episode "Bottoms Up" (season 9, episode 15) featured a side story about a nurse (Cpt. Helen Whitfield) who was found to be drinking heavily off-duty </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Thyrotoxicosis factitia and can you explain it in depth? [/INST]  </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Trichilemmoma and can you explain it in depth? [/INST]  </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Pneumomediastinum and can you explain it in depth? [/INST] Pneumomediastinum (from Greek pneuma – "air", also known as mediastinal emphysema) is pneumatosis (abnormal presence of air or other gas) in the mediastinum. First described in 1819 by René Laennec, the condition can result from physical trauma or other situations that lead to air escaping from the lungs, airways, or bowel into the chest cavity.
In underwater divers it is usually the result of pulmonary barotrauma.

Signs and symptoms
The main symptom is usually severe central chest pain </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Gumma (pathology) and can you explain it in depth? [/INST]  </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Chromhidrosis and can you explain it in depth? [/INST] Chromhidrosis is a rare condition characterized by the secretion of colored sweat. It is caused by the deposition of lipofuscin in the sweat glands. Cases of red, blue, green, yellow, pink, and black sweat have been reported.
Usually, chromhidrosis affects the apocrine glands, mainly on the face and underarms. A limited number of treatment options exist, including regular application of capsaicin cream, and prolonged relief may be provided by botulinum toxin treatment. Chromogenic pigments produced by bacteria (Corynebacterium in particular) are implicated in this condition, but their exact role still requires careful microbiological elucidation.
Chromhidrosis of the eccrine glands is rare; it occurs mainly after the ingestion of certain dyes or drugs.

See also
List of cutaneous conditions

References
Further reading
Schwarz, T; Neumann, R; Duschet, P; Brückler, B; Klein, W; Oppolzer, G; Bardach, H; Gschnait, F (1989). "Apokrine Chromhidrose" [Apocrine chromhidrosis]. Der Hautarzt (in German). 40 (2): 106–9. PMID 2714985.
Marksjr, J (1989). "Treatment of apocrine chromhidrosis with topical capsaicin". Journal of the American Academy of Dermatology </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Deaf-mute and can you explain it in depth? [/INST] Deaf-mute is a term which was used historically to identify a person who was either deaf and used sign language or both deaf and could not speak. The term continues to be used to refer to deaf people who cannot speak an oral language or have some degree of speaking ability, but choose not to speak because of the negative or unwanted attention atypical voices sometimes attract. Such people communicate using sign language. Some consider it to be a derogatory term if used outside its historical context; the preferred term today is simply "deaf".

Historical usage of "deaf-mute" and other terms
United Kingdom
In 19th century British English "mute" and "dumb" meant "non-speaking", and were not pejorative terms. For example, in 1889 Queen Victoria instigated the Royal Commission on The Blind, the Deaf and Dumb etc.in the United Kingdom. The intention was to examine contemporary education and employment of blind or deaf people, with a view to improving conditions for them. The Oxford English Dictionary states that the North American pejorative usage of the word to imply stupidity was first noted in the UK in 1928. According to the OED, "deaf-mute" was coined in the early 19th century as a medical term for an inability to speak as a consequence of deafness. There is no mention of offensiveness of this term in the UK.

North America
The primary definition of "dumb" in Websters Dictionary is "lacking intelligence" or "stupid". Its second definition of the word is "lacking the ability to speak ... now often offensive". Websters definition of "mute", on the other hand, gives the adjectival meaning as "unable to speak", whereas one of its usages as a noun is "a person who cannot speak ... sometimes offensive".In informal American English the terms "mute" and "dumb" are sometimes used to refer to other hearing people in jest, to chide, or to invoke an image of someone who refuses to employ common sense or who is unreliable. In the past deaf-mute was used to describe deaf people who used sign language, but in modern times, the term is frequently viewed today as offensive and inaccurate.  From antiquity (as noted in the Code of Hammurabi) until recent times, the terms "deaf-mute" and "deaf and dumb" were sometimes considered analogous to "stupid" by some hearing people </s>