Persius/hicric huggingface dataset:
Facial Onset Sensory Motor Neuropathy syndrome

# Overview
Facial Onset Sensory and Motor Neuropathy syndrome (FOSMN) is an extremely rare disease characterised by sensory and motor loss beginning in the face and spreading to involve an increasingly larger area including the upper arms. Details of the disease, and in particular its aetiology, are currently subject to debate, mainly because FOSMN syndrome is so rare. FOSMN was first described in four patients in 2006  and subsequently in a further six patients  but so far, these ten represent the only reported cases.

# Signs and symptoms
Sensory loss develops over the distribution of the trigeminal nerve and then spreads to involve the scalp and neck. Ultimately paraesthesiae spreads down to the arms. Sensory symptoms are followed by motor deficits which also begin in the face. Motor manifestations are characterised by weakness, atrophy, cramping and fasciculations. Difficulty swallowing and speaking may also develop. Neurophysiology studies show a generalized sensory motor neuronopathy which is most severe cranially.
These features lead FOSMN syndrome to be classed as one of the 'syringomyelia-like' syndromes, a group which also includes Tangier disease.

# Aetiology
An immune-mediated component to FOSMN has been suggested based on the response to treatment but so far this has only been described in a single patient.
The specific neuronal subtypes involved in the disease are not clear. Although most features of FOSMN reflect lower motor neuron impairment some findings have suggested upper motor neuron impairment in FOSMN. Involvement of both UMN and LMN might suggest a link between FOSMN and other, better characterised diseases such as amyotrophic lateral sclerosis.
Gender identity disorder (patient information)
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Synonyms and Keywords: Transsexualism

# Overview
Gender identity disorder is a conflict between a person's actual physical gender and the gender that person identifies himself or herself as. For example, a person identified as a boy may actually feel and act like a girl. The person experiences significant discomfort with the biological sex they were born.

# What are the symptoms of Gender identity disorder?
- Symptoms can vary by age, and are affected by the person's social environment. They may include the following:
- Children:
- Are disgusted by their own genitals
- Are rejected by their peers, feel alone
- Believe that they will grow up to become the opposite sex
- Have depression or anxiety
- Say that they want to be the opposite sex
- Adults:
- Dress like the opposite sex
- Feel alone
- Have depression or anxiety
- Want to live as a person of the opposite sex
- Wish to be rid of their own genitals
- Either adults or children:
- Cross-dress, show habits typical of the opposite sex
- Withdraw from social interaction

# What causes Gender identity disorder?
- People with gender identity disorder may act and present themselves as members of the opposite sex.
- The disorder may affect:
- Choice of sexual partners
- Display of feminine or masculine mannerisms, behavior, and dress
- Self-concept
- Gender identity disorder is not the same as homosexuality.
- Identity conflicts can occur in many situations and appear in different ways. For example, some people with normal genitalia and sexual characteristics (such as breasts) of one gender privately identify more with the other gender.
- Some people may cross-dress, and some may seek sex-change surgery. Others are born with ambiguous genitalia, which can raise questions about their gender.
- The cause is unknown, but hormones in the womb, genes, and environmental factors (such as parenting) may be involved. This rare disorder may occur in children or adults.

# When to seek urgent medical care?
Make an appointment with your health care provider if you have symptoms of this disorder and want help, especially with anxiety and depression.

# Diagnosis
- The feeling of being in the body of the "wrong" gender must last for at least 2 years for this diagnosis to be made.
- A history and psychiatric evaluation can confirm the person's constant desire to be the opposite sex.
- The person's partner choices may be same sex or opposite sex.

# Treatment options
- Individual and family therapy is recommended for children.
- Individual and, if appropriate, couples therapy is recommended for adults.
- Sex reassignment through surgery and hormonal therapy is an option, but identity problems may continue after this treatment.

# Where to find medical care for Gender identity disorder?
Directions to Hospitals Treating Gender identity disorder

# What to expect (Outlook/Prognosis)?
Diagnosing and treating this disorder early can lead to a better outcome.

# Possible complications
- Depression or anxiety
- Emotional distress
- Feeling alone
- Poor self-concept

# Source
Granulocyte colony-stimulating factor receptor
The granulocyte colony-stimulating factor receptor (G-CSF-R) also known as CD114 (Cluster of Differentiation 114) is a protein that in humans is encoded by the CSF3R gene. G-CSF-R is a cell-surface receptor for the granulocyte colony-stimulating factor (G-CSF). The G-CSF receptors belongs to a family of cytokine receptors known as the hematopoietin receptor family. The granulocyte colony-stimulating factor receptor is present on precursor cells in the bone marrow, and, in response to stimulation by G-CSF, initiates cell proliferation and differentiation into mature neutrophilic granulocytes and macrophages.
The G-CSF-R is a transmembrane receptor that consists of an extracellular ligand-binding portion, a transmembrane domain, and the cytoplasmic portion that is responsible for signal transduction. GCSF-R ligand-binding is associated with dimerization of the receptor and signal transduction through proteins including Jak, Lyn, STAT, and Erk1/2.

# Isoforms
The class IV isoform defective for both internalization and differentiation signaling.

# Clinical significance
Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia.
Mutations in the intracellular part of this receptor are also associated with certain types of leukemia.
In clinical medicine, there is a suggestion that use of GCSF should be avoided, at least in children and adolescents and perhaps adults, when G-CSFR isoform IV is overexpressed.

# Interactions
Granulocyte colony-stimulating factor receptor has been shown to interact with Grb2, HCK and SHC1.
Hypoxanthine-guanine phosphoribosyltransferase
Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) is an enzyme encoded in humans by the HPRT1 gene.
HGPRT is a transferase that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate.  This reaction transfers the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate (PRPP) to the purine. HGPRT plays a central role in the generation of purine nucleotides through the purine salvage pathway.

# Function
HGPRT catalyzes the following reactions:
HGPRTase functions primarily to salvage purines from degraded DNA to reintroduce into purine synthetic pathways. In this role, it catalyzes the reaction between guanine and phosphoribosyl pyrophosphate (PRPP) to form GMP, or between hypoxanthine and phosphoribosyl pyrophosphate (PRPP) to form inosine monophosphate.

# Substrates and inhibitors
Comparative homology modelling of this enzyme in L. donovani suggest that among all of the computationally screened compounds, pentamidine, 1,3-dinitroadamantane, acyclovir and analogs of acyclovir had higher binding affinities than the real substrate (guanosine monophosphate).
The in silico and in-vitro correlation of these compounds were test in Leishmania HGPRT and validates the result.

# Role in disease
Mutations in the gene lead to hyperuricemia:
- Some men have partial (up to 20% less activity of the enzyme) HGPRT deficiency that causes high levels of uric acid in the blood, which leads to the development of gouty arthritis and the formation of uric acid stones in the urinary tract. This condition has been named the Kelley-Seegmiller syndrome.
- Lesch-Nyhan syndrome is due to deficiency of HGPRT caused by HPRT1 mutation 
- Some mutations have been linked to gout, the risk of which is increased in hypoxanthine-guanine phosphoribosyltransferase deficiency.
- HPRT expression on the mRNA and protein level is induced by hypoxia inducible factor 1 (HIF1A).  HIF-1 is a transcription factor that directs an array of cellular responses that are used for adaptation during oxygen deprivation.  This finding implies that HPRT is a critical pathway that helps preserve the cell's purine nucleotide resources under hypoxic conditions as found in pathology such as myocardial ischemia.

# Creation of hybridomas
Hybridomas are immortal (immune to cellular senescence), HGPRT+ cells that result from fusion of mortal, HGPRT+ plasma cells and immortal, HGPRT myeloma cells. They are created to produce monoclonal antibodies in biotechnology. HAT medium inhibits de novo synthesis of nucleic acids, killing myeloma cells that cannot switch over to the salvage pathway, due to lack of HPRT1. The plasma cells in the culture eventually die from senesence, leaving pure hybridoma cells.
Hemorrhagic fever with renal syndrome overview

# Overview
Viral hemorrhagic fevers (VHFs) refer to a group of illnesses that are caused by several distinct families of viruses. In general, the term "viral hemorrhagic fever" is used to describe a severe multisystem syndrome (multisystem in that multiple organ systems in the body are affected).

# Epidemiology and Demographics
Taken together, the viruses that cause VHFs are distributed over much of the globe. However, because each virus is associated with one or more particular host species, the virus and the disease it causes are usually seen only where the host species live(s). Some hosts, such as the rodent species carrying several of the New World arenaviruses, live in geographically restricted areas. Therefore, the risk of getting VHFs caused by these viruses is restricted to those areas.

# Treatment

## Medical Therapy
Patients receive supportive therapy, but generally speaking, there is no other treatment or established cure for VHFs. Ribavirin, an anti-viral drug, has been effective in treating some individuals with Lassa fever or HFRS. Treatment with convalescent-phase plasma has been used with success in some patients with Argentine hemorrhagic fever.

## Primary Prevention
With the exception of yellow fever and Argentine hemorrhagic fever, for which vaccines have been developed, no vaccines exist that can protect against these diseases. Therefore, prevention efforts must concentrate on avoiding contact with host species. If prevention methods fail and a case of VHF does occur, efforts should focus on preventing further transmission from person to person, if the virus can be transmitted in this way.

## Secondary Prevention
In conjunction with the World Health Organization, CDC has developed practical, hospital-based guidelines, titled Infection Control for viral Haemorrhagic Fevers In the African Health Care Setting.  The manual can help health-care facilities recognize cases and prevent further hospital-based disease transmission using locally available materials and few financial resources.

## Future or Investigational Therapies
Scientists and researchers are challenged with developing containment, treatment, and vaccine strategies for these diseases. Another goal is to develop immunologic and molecular tools for more rapid disease diagnosis, and to study how the viruses are transmitted and exactly how the disease affects the body (pathogenesis). A third goal is to understand the ecology of these viruses and their hosts in order to offer preventive public health advice for avoiding infection.
Isobutyryl-coenzyme A dehydrogenase deficiency

# Overview
Isobutyryl-coenzyme A dehydrogenase deficiency, commonly known as IBD deficiency, is a rare metabolic disorder in which the body is unable to process certain amino acids properly.
People with this disorder have inadequate levels of an enzyme that helps break down the amino acid valine, resulting in a build up of valine in the urine, a symptom called valinuria.

# Diagnosis
Babies with this disorder are usually healthy at birth. The signs and symptoms may not appear until later in infancy or childhood and can include poor feeding and growth (failure to thrive), a weakened and enlarged heart (dilated cardiomyopathy), seizures, and low numbers of red blood cells (anemia). Another feature of this disorder may be very low blood levels of carnitine (a natural substance that helps convert certain foods into energy).
Isobutyryl-CoA dehydrogenase deficiency may be worsened by long periods without food (fasting) or infections that increase the body's demand for energy. Some individuals with gene mutations that can cause isobutyryl-CoA dehydrogenase deficiency may never experience any signs and symptoms of the disorder.

# Genetics
Defects in the ACAD8 gene cause isobutyryl-coenzyme A dehydrogenase deficiency. The ACAD8 gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, the enzyme is responsible for processing valine, an amino acid that is part of many proteins. If a mutation in the ACAD8 gene reduces or eliminates the activity of this enzyme, the body is unable to break down valine properly. As a result, poor growth and reduced energy production may occur.
This disorder is inherited in an autosomal recessive pattern, which means the defective gene is located on an autosome, and two copies of the gene - one from each parent - are needed to be born with the disorder. The parents of an individual with an autosomal recessive disorder are carriers of one copy of the defective gene, but do not show signs and symptoms of the disorder.
Interferon alfacon-1 dosage and administration

# Dosage And Administration

## INFERGEN Monotherapy Dosing
The recommended dose of INFERGEN monotherapy for the initial treatment of chronic HCV infection is 9 mcg administered three times a week as a single subcutaneous injection for 24 weeks .
The recommended dose of INFERGEN monotherapy for patients who tolerated previous interferon therapy and did not respond or relapsed following its discontinuation is 15 mcg administered three times a week as a single subcutaneous injection for up to 48 weeks . Patients who do not tolerate initial standard interferon therapy should not be treated with INFERGEN therapy 15 mcg three times a week.

## Combination Treatment with INFERGEN/Ribavirin Dosing
The recommended dose of INFERGEN is 15 mcg daily administered as a single subcutaneous injection in combination with weight-based ribavirin at 1,000 mg - 1,200 mg (< 75 kg and 75 kg) orally in two divided doses for up to 48 weeks. .
Ribavirin should be taken with food. INFERGEN/ribavirin should not be used in patients with creatinine clearance < 50 mL/min .

## Dose Modifications
If a serious adverse reaction develops during the course of treatment  discontinue or modify the dosage of INFERGEN and/or ribavirin until the adverse event abates or decreases in severity. If persistent or recurrent serious adverse events develop despite adequate dosage adjustment, discontinue treatment. Upon resolution or improvement of the adverse reaction, resuming INFERGEN and/or ribavirin may be considered.
INFERGEN Monotherapy Dose Modifications
Dose reduction to 7.5 mcg may be necessary following a serious adverse reaction. If serious adverse events continue to occur, dosing should be interrupted or discontinued as the efficacy of lower doses has not been established.
INFERGEN/Ribavirin Combination Therapy Dose Modifications
Stepwise dose reduction from 15 mcg to 9 mcg and from 9 mcg to 6 mcg may be necessary for serious adverse reactions.
Guidelines for INFERGEN/Ribavirin Dose Modifications
Tables 1, 2, and 3 provide guidelines for dose modifications and discontinuation of INFERGEN and/or ribavirin based on depression or laboratory parameters.
Renal Function: INFERGEN/ribavirin should not be used in patients with creatinine clearance <50 mL/min. .

## Discontinuation of Treatment
Patients who fail to achieve at least a 2 log10 drop at 12 weeks or undetectable HCV-RNA at week 24 are highly unlikely to achieve SVR and discontinuation of therapy should be considered .
Ribavirin should be discontinued in any patient who temporarily or permanently discontinues INFERGEN.

## Preparation and Administration
Just prior to injection, INFERGEN may be allowed to reach room temperature.
Parenteral drug products should be inspected visually for particulate matter and discoloration prior to administration; if particulates or discoloration are observed, the vial should not be used.
If home use is determined to be desirable by the physician, instructions on appropriate use should be given by a healthcare professional. After administration of INFERGEN, it is essential to follow the procedure for proper disposal of syringes and needles. .
Komen Brinker Award for Scientific Distinction

# Overview
The Komen Brinker Award for Scientific Distinction was established by Susan G. Komen for the Cure in 1992 to recognize leading scientists for their significant work in advancing research concepts or clinical application in the fields of breast cancer research, screening or treatment.
The intent of the award is to recognize scholars for a specific contribution, a consistent pattern of contributions, or leadership in the field that has had a substantial impact on the fight against breast cancer. The awardees are nominated and selected by a panel of their peers. Recipients are also invited to present their work in a lecture at the annual San Antonio Breast Cancer Symposium (SABCS).
Past recipients of the Komen Brinker Award for Scientific Distinction include V. Craig Jordan, Ph.D., OBE a pioneer in the use of tamoxifen; Dr. Mary-Claire King, Ph.D., whose research isolated the BRCA1 and BRCA2 gene mutations associated with genetic forms of breast cancer; Larry Norton, M.D., whose dose-density approach to the administration of chemotherapy has revolutionized breast cancer treatment; Dr. Anita Roberts, who co-discovered the TGF-beta molecule; and Leland Hartwell, Ph.D., winner of the 2001 Nobel Prize for medicine or physiology who was recognized for his achievements in the understanding the cell cycle in the development of cancer.
Brinker Award recipients each receive a $20,000 honorarium and a special citation of this distinction.

# See Also
- Susan G. Komen for the Cure
Lipoid congenital adrenal hyperplasia overview

# Overview
Lipoid congenital adrenal hyperplasia is an uncommon form of CAH resulting from defects in the earliest stages of adrenal cortisol synthesis: the transport of cholesterol into the mitochondria of the cells of the adrenal cortex and the conversion to pregnenolone. Lipoid CAH causes mineralocorticoid deficiency in all affected infants and children. XY infants (genetic males) are severely undervirilized and are usually assigned and raised as girls. The adrenals are large and filled with lipid globules derived from cholesterol.
Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from defects in steps of the synthesis of cortisol from cholesterol by the adrenal glands. All of the forms of CAH involve excessive or defective production of sex steroids and can pervert or impair development of primary or secondary sex characteristics in affected infants, children, and adults. Many also involve excessive or defective production of mineralocorticoids, which can cause hypertension or salt-wasting.
The most common type of CAH is due to deficiency of 21-hydroxylase. Lipoid CAH is one of the less common types of CAH due to deficiencies of other proteins and enzymes involved in cortisol synthesis.
Mitochondrial trifunctional protein deficiency
Mitochondrial trifunctional protein deficiency is a rare inherited condition that prevents the body from converting certain fats to energy, particularly during periods without food . People with this disorder have inadequate levels of an enzyme that breaks down a certain group of fats called long-chain fatty acids.
Onset of this disorder may begin during infancy or later in life. Signs and symptoms of the early onset form can include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), muscle weakness (hypotonia), liver problems, and a high risk for complications such as life-threatening heart and breathing problems, coma, and sudden unexpected death. The late-onset form is usually less severe; signs and symptoms can include hypotonia, muscle pain, a breakdown of muscle tissue, and abnormalities in the nervous system that affect arms and legs (peripheral neuropathy). Episodes of mitochondrial trifunctional protein deficiency can be triggered by periods of fasting or by illnesses such as viral infections.
Mutations in the HADHA or HADHB genes can lead to inadequate levels of an enzyme complex known as mitochondrial trifunctional protein. Long-chain fatty acids from food and body fat cannot be metabolized and processed without sufficient levels of this enzyme complex. As a result, these fatty acids are not converted to energy, which can lead to characteristic features of this disorder, such as lethargy and hypoglycemia. Long-chain fatty acids or partially metabolized fatty acids may build up in tissues and damage the liver, heart, and muscles, causing more serious complications. The condition is inherited in an autosomal recessive pattern.
This article incorporates public domain text from The U.S. National Library of Medicine