Persius/hicric huggingface dataset:
Van der Woude syndrome (patient information)
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# Overview
Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth.
People with van der Woude syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with van der Woude syndrome is not significantly different from that of the general population.

# What are the symptoms of Van der Woude syndrome?

# What are the causes of Van der Woude syndrome?
Mutations in the IRF6 gene cause van der Woude syndrome. The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes.
The IRF6 protein is active in cells that give rise to tissues in the head and face. It is also involved in the development of other parts of the body, including the skin and genitals.
Mutations in the IRF6 gene that cause van der Woude syndrome prevent one copy of the gene in each cell from making any functional protein. A shortage of the IRF6 protein affects the development and maturation of tissues in the face, resulting in the signs and symptoms of van der Woude syndrome.

# Who is at risk for Van der Woude syndrome?
Individuals with parents that carry a mutation in IRF6 gene are at risk.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Occasionally, an individual who has a copy of the altered gene does not show any signs or symptoms of the disorder.

# How to know you have Van der Woude syndrome?

# When to seek urgent medical care

# Treatment options

# Diseases with similar symptoms

# Where to find medical care for Van der Woude syndromee
Directions to Hospitals Treating Van der Woude syndrome

# Prevention of Van der Woude syndrome

# What to expect (Outlook/Prognosis)
Welfare, Choice and Solidarity in Transition
"Welfare, Choice and Solidarity in Transition: reforming the health sector in Eastern Europe" was written by Janos Kornai and Karen Eggleston, published in 2001.
This book focused on ten post-socialist Eastern European countries, including Albania, Bulgaria, Croatia, Czech Republic, Hungary, Republic of Macedonia, Poland, Romania, Slovakia, and Slovenia.
In 2007, (according to the definition of the World Bank) in these ten countries, Albania is a lower-middle-income economy; Czech and Slovenia are high-income economies; and others are belong to upper-middle-income economies.
3-Methylcrotonyl-CoA carboxylase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency (3MCC deficiency), also known as 3-Methylcrotonylglycinuria type 1 or BMCC deficiency is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down proteins containing the amino acid leucine. This condition affects an estimated 1 in 50,000 individuals worldwide.

# Presentation
Infants with this disorder appear normal at birth but usually develop signs and symptoms during the first year of life or in early childhood. The characteristic features of this condition, which can range from mild to life-threatening, include feeding difficulties, recurrent episodes of vomiting and diarrhea, excessive tiredness (lethargy), and weak muscle tone (hypotonia). If untreated, this disorder can lead to delayed development, seizures, and coma. Early detection and lifelong management (following a low-protein diet and using appropriate supplements) may prevent many of these complications. In some cases, people with gene mutations that cause 3-methylcrotonyl-CoA carboxylase deficiency never experience any signs or symptoms of the disorder.
The characteristic features of this condition are similar to those of Reye syndrome, a severe disorder that develops in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.

# Genetics
The MCCC1 and MCCC2 genes make protein subunits that come together to form an enzyme called 3-methylcrotonyl-CoA carboxylase. This enzyme plays an essential role in breaking down proteins from the diet. Specifically, the enzyme is responsible for the fourth step in processing leucine. If a mutation in the MCCC1 or MCCC2 gene reduces or eliminates the activity of 3-methylcrotonyl-CoA carboxylase, the body is unable to process leucine properly. As a result, toxic byproducts of leucine processing build up to harmful levels, damaging the brain and nervous system. This condition is inherited in an autosomal recessive pattern.

# Screening
It is one of the 29 conditions currently recommended for newborn screening by the American College of Medical Genetics.
Acute coronary syndrome risk stratification

# 2021 ACC/AHA/SCAI Guideline for Coronary Artery Revascularization (Please do not edit)

## Improving Equity of Care in Revascularization

## Recommendations for Shared Decision-Making and Informed Consent

# 2011 ACCF/AHA Focused Update Incorporated Into the ACC/AHA 2007 Guidelines for the Management of Patients With Unstable Angina/Non -ST-Elevation Myocardial Infarction (DO NOT EDIT)

# Early Risk Stratification (DO NOT EDIT)

## Risk Stratification Before Discharge (DO NOT EDIT)

# Related Chapters
- The UA / NSTEMI Living Guidelines: Vote on current recommendations and suggest revisions to the guidelines
- Unstable Angina/ Non ST Elevation Myocardial Infarction
- ST Elevation Myocardial Infarction
American College of Surgeons Oncology Group

# Overview
The American College of Surgeons Oncology Group (ACOSOG) is a clinical trial cooperative group supported publicly by the National Cancer Institute (NCI).  Established  during the 1990s, ACOSOG has a different mission when compared to other cooperative groups. For the most part, ACOSOG focuses on the effects of surgery on patients with malignant tumors. Other cooperative groups like COG, ECOG, and SWOG, tend to emphasize the role of radiotherapy in patients with metastatic cancers. Nearly all age groups are considered in ACOSOG studies; however,  middle-aged to senior adults tend to comprise the basis for most of the research conducted with ACOSOG protocols. Children who necessitate surgery for resection of malignant tumors typically fall under the auspices of COG. Currently, ACOSOG offices are located at the Duke University Medical Center in Durham, North Carolina.

# Quality Assurance
The American College of Surgeons Oncology Group has all of its protocol driven cases reviewed at the Quality Assurance Review Center (QARC). As mandated by the National Cancer Institute (NCI), every radiotherapy department participating in an ACOSOG study must submit their data to QARC for review. QARC is located in Providence, Rhode Island and reviews thousands of cases per year. The center was founded in 1977 as a not-for-profit healthcare organization designed to provide quality assurance for CALGB studies. Radiotherapy data from around one-thousand hospitals in both the United States and abroad is reviewed and archived at QARC.
Another center for quality assurance is the Radiological Physics Center (RPC) in Houston, Texas. The primary responsibility of the RPC is to assure the National Cancer Institute (NCI) and its cooperative groups like COG that all participating institutions are following the guidelines set-forth for the physics-related aspects of radiotherapy. Established in 1968, the RPC has consistently received funding from the NCI in order to perform the aforementioned mission.
Ampicillin Trihydrate indications and usage

# Indications and Usage
Ampicillin Capsules, USP are indicated in the treatment of infections caused by susceptible strains of the designated organism listed below:
- Infections of the genitourinary tract including gonorrhea: E. coli, P. mirabilis, enterococci, Shigella, S. typhosa and other salmonella, and nonpenicillinase producing N. gonorrhoeae.
- Infections of the respiratory tract: Nonpenicillinase- producing H. influenzae and staphylococci, and streptococci including streptococcus pneumoniae.
- Infections of the gastrointestinal tract: Shigella, S. typhosa and other Salmonella, E. coli, P. mirabilis, and enterococci.
- Meningitis: N. meningitides.
To reduce the development of drug-resistant bacteria and maintain the effectiveness of ampicillin and other antibacterial drugs, ampicillin should be used only to treat or prevent infections that are proven or strongly suspected to be caused by susceptible bacteria. When culture and susceptibility information are available, they should be considered in selecting or modifying antibacterial therapy. In the absence of such data, local epidemiology and susceptibility patterns may contribute to the empiric selection of therapy.
Bacteriology studies to determine the causative organisms and their susceptibility to ampicillin should be performed. Therapy may be instituted prior to the results of susceptibility testing.
Ateneo School of Medicine and Public Health
The Ateneo School of Medicine and Public Health or ASMPH is the medical school of Ateneo de Manila University, a private, Roman Catholic university of the Society of Jesus in the Philippines.
The school is located in the Eugenio Lopez III Medical Complex in Ortigas Center, Pasig City, beside its partner hospital, The Medical City. Its current dean is Alfredo R.A. Bengzon.

# Academic program
The AMSPH draws from the collective strengths and expertise of the Loyola Schools, the Health Unit of the Ateneo Graduate School of Business, and its partner training hospital, The Medical City.

## Pre-Professional Phase
The program is designed to be integrated with a pre-professional phase through the Health Sciences program of the School of Science and Engineering at the Loyola Schools. It is likewise compatible with other degree programs such as majors in Biology, Psychology, Chemistry, Physics, Medical Technology, Zoology, Economics, Interdisciplinary Studies, among others, from all other schools and universities.

## Professional Phase
The Professional Phase of the program of learning offered at the ASMPH  is a double degree program leading to the degrees of doctor of medicine and master of management.

# Administration
The Dean of the ASMPH is Dr. Alfredo R.A. Bengzon, M.D., M.B.A. 
Serving as Associate Dean is Dr. Maria Eufemia C. Yap, M.D., M.Sc. Dr. Yap finished with a bachelor of science degree in biology from the Ateneo in 1983. She pursued her medical studies at the Far Eastern University - Nicanor Reyes Medical Foundation in 1987. She attended the University of Heidelberg, where she graduated Master of Science in Community Health and Health Management in 1997. She has held positions in the  Ateneos health-related projects such the Center for Community Services (CCS) and Health Alternatives for Total Human Development Institute (HEALTHDEV), before she joined the AGSB as a faculty member and then as Associate Director and Assistant to the Vice President for the Professional Schools. Since 2003, she has been Director of the AGSB's Health Unit.
Appointed Director for Academic Affairs and Faculty Development is Dr. Ma. Luz S. Casimiro-Querubin, M.D., FPPA. She was valedictorian of the Ateneo, finishing a degree in A.B. Psychology in 1981. She graduated with an M.D. from the University of the Philippines in 1987, and obtained a Diplomate from the Philippine Board of Psychiatry in 1999. Prior to her appointment, Dr. Querubin was an attending psychiatrist in the Department of Psychiatry and Behavioral Medicine at the Philippine General Hospital. She is currently a member of the medical staff of the Department of Psychiatry at The Medical City. She was Associate Clinical Professor at the College of Medicine, University of the Philippines, a faculty member for Ateneos Leaders for Health Program, and a Senior Lecturer at the Department of Psychiatry in the University of Melbourne.
Baculoviral IAP repeat-containing protein 3
Baculoviral IAP repeat-containing protein3 (also known as cIAP2) is a protein that in humans is encoded by the BIRC3 gene.
cIAP2 is a member of the inhibitor of apoptosis family that inhibit apoptosis by interfering with the activation of caspases.  The encoded protein inhibits apoptosis induced by serum deprivation but does not affect apoptosis resulting from exposure to menadione, a potent inducer of free radicals. The cIAP2 protein contains three BIR domains, a UBA domain, a CARD domain and a RING finger domain. Transcript variants encoding the same isoform have been identified.

# Interactions
Baculoviral IAP repeat-containing protein 3 has been shown to interact with:
- CASP9,
- RIPK1,
- TRAF1,
- TRAF2,  and
- UBE2D2.
Bicuspid aortic stenosis treatment overview

# Overview
Approximately 40% of patients with a bicuspid aortic valve potentially require aortic valve replacement in the third or fourth decade of their life.

# Concomitant Disease of the Aorta
The aorta of patients with bicuspid aortic valve does not have the same histological characteristics of a normal aorta. The tensile strength is reduced. These patients are at a higher risk for aortic dissection and aneurysm formation of the ascending aorta. The size of the proximal aorta should be evaluated carefully during the evaluation of the patient for aortic stenosis surgery. The initial diameter of the aorta should be noted and periodic evaluation with CT scan (every year or sooner if there is a change in aortic diameter) should be recommended. Therefore, if the patient needs surgery, the size of the aorta will determine what type of surgery should be offered to the patient. 

# Associated Congenital Heart Disease
Patients with bicuspid aortic valve are also at higher risk of aortic coarctation, an abnormal narrowing of the thoracic aorta .
Bromo adjacent homology domain containing 1
Bromo adjacent homology domain containing 1 (BAHD1) is a protein that in humans is encoded by the BAHD1 gene. BAHD1 is involved in heterochromatin formation and transcriptional repression. 

# Discovery
BAHD1 was first cloned from a human brain cDNA library and the coding sequence was named KIAA0945. Bierne and colleagues further discovered the function of BAHD1 in the regulation of chromatin structure and gene expression.

# Function
BAHD1 acts as a co-repressor by interacting with a set of proteins that promote chromatin compaction and regulate transcription. Tandem-affinity purification of the BAHD1-associated protein complex in human HEK293 cells identified MIER proteins (MIER1, MIER2, MIER3), histone deacetylase HDAC1 and HDAC2, histone H3K9 methyltransferase EHMT2, heterochromatin protein 1 (HP1 alpha, HP1 beta, HP1 gamma), MBD1, TRIM28 and CDYL as partners of BAHD1. Overexpression of BAHD1 in HEK293 cells induces large-scale chromatin condensation  and DNA methylation on autosomes. The C-terminal BAH domain of BAHD1 acts as a reader for the epigenetic mark H3K27me3. Ectopically expressed BAHD1 colocalizes with the heterochromatic inactive X chromosome (Xi).

# Animal studies
Ablation of the Bahd1 gene in the mouse alters placental development and results in hypocholesterolemia, hypoglycemia and decreased body fat. Bahd1-haplodeficiency in mice decreases the efficiency of infection with the bacterial pathogen Listeria monocytogenes.

# Clinical significance
During infection of human epithelial cells with the pathogen Listeria monocytogenes, BAHD1 represses interferon-stimulated genes. At specific stages of infection, a Listeria nucleomodulin, LntA, acts as an inhibitor of BAHD1 and activates interferon-stimulated genes. The BAHD1 gene is downregulated in the colon tissue in a mouse model of ulcerative colitis.
Carbamoyl phosphate synthetase I deficiency

# Overview
Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.

# Symptoms
Carbamoyl phosphate synthetase I deficiency often becomes evident in the first few days of life. An infant with this condition may be lacking in energy (lethargic) or unwilling to eat, and have a poorly controlled breathing rate or body temperature. Some babies with this disorder may experience seizures or unusual body movements, or go into a coma. Complications of carbamoyl phosphate synthetase I deficiency may include developmental delay and mental retardation.
In some affected individuals, signs and symptoms of carbamoyl phosphate synthetase I deficiency may be less severe, and may not appear until later in life.

# Pathophysiology
Mutations in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency. Carbamoyl phosphate synthetase I deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys.
In carbamoyl phosphate synthetase I deficiency, the enzyme that regulates the urea cycle is damaged or missing. The urea cycle cannot proceed normally, and nitrogen accumulates in the bloodstream in the form of ammonia. Ammonia is especially damaging to the nervous system, and excess ammonia causes neurological problems and other signs and symptoms of carbamoyl phosphate synthetase I deficiency.
This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered.
Carnitine palmitoyltransferase I deficiency

# Overview
Carnitine palmitoyltransferase I deficiency is a rare condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty enzyme that prevents these long-chain fatty acids from being transported into the mitochondria to be broken down.

# Pathophysiology

## Genetics
Mutations in the CPT1A gene lead to the production of a defective version of an enzyme called carnitine palmitoyltransferase I. Without this enzyme, long-chain fatty acids from food and fats stored in the body cannot be transported into mitochondria to be broken down and processed. As a result, excessive levels of long-chain fatty acids may build up in tissues, damaging the liver, heart, and brain.
This condition is inherited in an autosomal recessive pattern.

## Associated Conditions
- Primary carnitine deficiency
- Carnitine palmitoyltransferase II deficiency

# Causes
Mutations in the CPT1A gene cause carnitine palmitoyltransferase I deficiency.

# Differentiating from other Diseases
This condition is sometimes mistaken for Reye syndrome, a severe disorder that develops in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.

# Diagnosis

## Symptoms
- Muscle weakness

## Physical Examination

### Abdomen
- Hepatomegaly

## Laboratory Findings
- Low levels ketones
- Hypoglycemia
- Elevated levels of carnitine
Cefuroxime axetil dosage and administration
NOTE: CEFTIN TABLETS AND CEFTIN FOR ORAL SUSPENSION ARE NOT BIOEQUIVALENT AND ARE NOT SUBSTITUTABLE ON A MILLIGRAM-PER-MILLIGRAM BASIS (SEE CLINICAL PHARMACOLOGY).
Table 7. CEFTIN Tablets
a  The safety and effectiveness of CEFTIN administered for less than 10 days in patients with acute exacerbations of chronic bronchitis have not been established.
CEFTIN for Oral Suspension
CEFTIN for Oral Suspension may be administered to pediatric patients ranging in age from 3 months to 12 years, according to dosages in Table 8:
Table 8. CEFTIN for Oral Suspension
Patients With Renal Failure
The safety and efficacy of cefuroxime axetil in patients with renal failure have not been established. Since cefuroxime is renally eliminated, its half-life will be prolonged in patients with renal failure.
Directions for Mixing CEFTIN for Oral Suspension
Prepare a suspension at the time of dispensing as follows:
1.Shake the bottle to loosen the powder.
2.Remove the cap.
3.Add the total amount of water for reconstitution (see Table 9) and replace the cap.
4.Invert the bottle and vigorously rock the bottle from side to side so that water rises through the powder.
5.Once the sound of the powder against the bottle disappears, turn the bottle upright and vigorously shake it in a diagonal direction.
NOTE: SHAKE THE ORAL SUSPENSION WELL BEFORE EACH USE. Replace cap securely after each opening. Store the reconstituted suspension between 2 and 8C (36 and 46F) (in a refrigerator). DISCARD AFTER 10 DAYS.
Center for the Study of Human Polymorphisms
Centre d'etude du polymorphisme humaine (or the Center for the Study of Human Polymorphisms), now called the Foundation Jean Dausset-CEPH, is an international genetic research center located in Paris, France. It produced a map that includes genetic markers of human chromosomes using a resource of immortalised cell cultures.

# Background
In his 2005 addendum to his biography for the 1980 Nobel Prize, Jean Dausset noted that, thanks to his Nobel Prize and a grant from the French Television, he had been able in 1984 to create the Human Polymorphism Study Center (CEPH), which soon after became Foundation Jean Dausset-CEPH. Dausset founded CEPH with the collaboration of Professors Howard Cann and Daniel Cohen.

# Human Genome
Numerous collaborators working on the same large families as Dausset had collected for his Nobel Prize-winning studies on the HLA system, led to the addition of numerous gene markers and made it feasible to publish the first genetic map and, later on, the first physical map of the human genome.

# New resources
An exhaustive study of human populations around the world has also produced important publications from CEPH. Besides this, DNA samples from sibships of people over 95 years old and a bank of centenarians now provide a valuable research resource at the Foundation Jean Dausset-CEPH.