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Mowat–Wilson Syndrome
Mowat–Wilson syndrome is a rare genetic disorder that was clinically delineated by David R. Mowat and Meredith J. Wilson in 1998. The condition affects both males and females, has been described in various countries and ethnic groups around the world, and occurs in approximately 1 in 50,000-100,000 births. Presentation This autosomal dominant disorder is characterized by a number of health defects including Hirschsprung disease, intellectual disability, epilepsy, delayed growth and motor development, congenital heart disease, genitourinary anomalies and absence of the corpus callosum. However, Hirschsprung's disease is not present in all infants with Mowat–Wilson syndrome and therefore it is not a required diagnostic criterion.Todo A, Harrington JWNew-onset seizures in infant with square facies, hypospadias, and Hirschsprung disease Consultant for Pediatricians. 2010;9:103-107. Distinctive physical features include microcephaly, narrow chin, cupped ears with uplifted lobes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Angelman Syndrome
Angelman syndrome or Angelman's syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, and sleep problems. Children usually have a happy personality and have a particular interest in water. The symptoms generally become noticeable by one year of age. Angelman syndrome is due to a lack of function of part of chromosome 15, typically due to a new mutation rather than one inherited from a person's parents. Most of the time, it is due to a deletion or mutation of the UBE3A gene on that chromosome. Occasionally, it is due to inheriting two copies of chromosome 15 from a person's father and none from their mother ( paternal uniparental disomy). As the father's versions are inactivated by a process known as genomic imprinting, no functional version of the gene re ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Heart Defect
A congenital heart defect (CHD), also known as a congenital heart anomaly and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. A congenital heart defect is classed as a cardiovascular disease. Signs and symptoms depend on the specific type of defect. Symptoms can vary from none to life-threatening. When present, symptoms may include rapid breathing, bluish skin (cyanosis), poor weight gain, and feeling tired. CHD does not cause chest pain. Most congenital heart defects are not associated with other diseases. A complication of CHD is heart failure. The cause of a congenital heart defect is often unknown. Risk factors include certain infections during pregnancy such as rubella, use of certain medications or drugs such as alcohol or tobacco, parents being closely related, or poor nutritional status or obesity in the mother. Having a parent with a congenital heart defect is also a risk factor. A number of genetic condit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Constipation
Constipation is a bowel dysfunction that makes bowel movements infrequent or hard to pass. The stool is often hard and dry. Other symptoms may include abdominal pain, bloating, and feeling as if one has not completely passed the bowel movement. Complications from constipation may include hemorrhoids, anal fissure or fecal impaction. The normal frequency of bowel movements in adults is between three per day and three per week. Babies often have three to four bowel movements per day while young children typically have two to three per day. Constipation has many causes. Common causes include slow movement of stool within the colon, irritable bowel syndrome, and pelvic floor disorders. Underlying associated diseases include hypothyroidism, diabetes, Parkinson's disease, celiac disease, non-celiac gluten sensitivity, colon cancer, diverticulitis, and inflammatory bowel disease. Medications associated with constipation include opioids, certain antacids, calcium channel b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hirschsprung's Disease
Hirschsprung's disease (HD or HSCR) is a birth defect in which nerves are missing from parts of the intestine. The most prominent symptom is constipation. Other symptoms may include vomiting, abdominal pain, diarrhea and slow growth. Symptoms usually become apparent in the first two months of life. Complications may include enterocolitis, megacolon, bowel obstruction and intestinal perforation. The disorder may occur by itself or in association with other genetic disorders such as Down syndrome or Waardenburg syndrome. About half of isolated cases are linked to a specific genetic mutation, and about 20% occur within families. Some of these occur in an autosomal dominant manner. The cause of the remaining cases is unclear. If otherwise normal parents have one child with the condition, the next child has a 4% risk of being affected. The condition is divided into two main types, short-segment and long-segment, depending on how much of the bowel is affected. Rarely, the small bow ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Surgeon
In modern medicine, a surgeon is a medical professional who performs surgery. Although there are different traditions in different times and places, a modern surgeon usually is also a licensed physician or received the same medical training as physicians before specializing in surgery. There are also surgeons in podiatry, dentistry, and veterinary medicine. It is estimated that surgeons perform over 300 million surgical procedures globally each year. History The first person to document a surgery was the 6th century BC Indian physician-surgeon, Sushruta. He specialized in cosmetic plastic surgery and even documented an open rhinoplasty procedure.Ira D. Papel, John Frodel, ''Facial Plastic and Reconstructive Surgery'' His magnum opus ''Suśruta-saṃhitā'' is one of the most important surviving ancient treatises on medicine and is considered a foundational text of both Ayurveda and surgery. The treatise addresses all aspects of general medicine, but the translator G. D ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gastroenterologist
Gastroenterology (from the Greek gastḗr- “belly”, -énteron “intestine”, and -logía "study of") is the branch of medicine focused on the digestive system and its disorders. The digestive system consists of the gastrointestinal tract, sometimes referred to as the ''GI tract,'' which includes the esophagus, stomach, small intestine and large intestine as well as the accessory organs of digestion which includes the pancreas, gallbladder, and liver. The digestive system functions to move material through the GI tract via peristalsis, break down that material via digestion, absorb nutrients for use throughout the body, and remove waste from the body via defecation. Physicians who specialize in the medical specialty of gastroenterology are called gastroenterologists or sometimes ''GI doctors''. Some of the most common conditions managed by gastroenterologists include gastroesophageal reflux disease, gastrointestinal bleeding, irritable bowel syndrome, irritable bowel disease ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Heart Disease
A congenital heart defect (CHD), also known as a congenital heart anomaly and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. A congenital heart defect is classed as a cardiovascular disease. Signs and symptoms depend on the specific type of defect. Symptoms can vary from none to life-threatening. When present, symptoms may include rapid breathing, bluish skin (cyanosis), poor weight gain, and feeling tired. CHD does not cause chest pain. Most congenital heart defects are not associated with other diseases. A complication of CHD is heart failure. The cause of a congenital heart defect is often unknown. Risk factors include certain infections during pregnancy such as rubella, use of certain medications or drugs such as alcohol or tobacco, parents being closely related, or poor nutritional status or obesity in the mother. Having a parent with a congenital heart defect is also a risk factor. A number of genetic condition ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cardiac Surgeon
Cardiac surgery, or cardiovascular surgery, is surgery on the heart or great vessels performed by cardiac surgeons. It is often used to treat complications of ischemic heart disease (for example, with coronary artery bypass grafting); to correct congenital heart disease; or to treat valvular heart disease from various causes, including endocarditis, rheumatic heart disease, and atherosclerosis. It also includes heart transplantation. History 19th century The earliest operations on the pericardium (the sac that surrounds the heart) took place in the 19th century and were performed by Francisco Romero (1801) in the city of Almería (Spain), Dominique Jean Larrey (1810), Henry Dalton (1891), and Daniel Hale Williams (1893). The first surgery on the heart itself was performed by Axel Cappelen on 4 September 1895 at Rikshospitalet in Kristiania, now Oslo. Cappelen ligated a bleeding coronary artery in a 24-year-old man who had been stabbed in the left axilla and was i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cardiologist
Cardiology () is a branch of medicine that deals with disorders of the heart and the cardiovascular system. The field includes medical diagnosis and treatment of congenital heart defects, coronary artery disease, heart failure, valvular heart disease and electrophysiology. Physicians who specialize in this field of medicine are called cardiologists, a specialty of internal medicine. Pediatric cardiologists are pediatricians who specialize in cardiology. Physicians who specialize in cardiac surgery are called cardiothoracic surgeons or cardiac surgeons, a specialty of general surgery. Specializations All cardiologists study the disorders of the heart, but the study of adult and child heart disorders each require different training pathways. Therefore, an adult cardiologist (often simply called "cardiologist") is inadequately trained to take care of children, and pediatric cardiologists are not trained to treat adult heart disease. Surgical aspects are not included in ca ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Subspecialty
A subspecialty (US English) or subspeciality (international English) is a narrow field of professional knowledge/skills within a specialty of trade, and is most commonly used to describe the increasingly more diverse medical specialties. A subspecialist is a specialist of a subspecialty. In medicine, subspecialization is particularly common in internal medicine, cardiology, neurology and pathology, and has grown as medical practice has: # become more complex, and # it has become clear that a physician A physician (American English), medical practitioner (Commonwealth English), medical doctor, or simply doctor, is a health professional who practices medicine, which is concerned with promoting, maintaining or restoring health through th ...'s case volume is negatively associated with their complication rate; that is, complications tend to decrease as the volume of cases per physician goes up. See also * Notes and references Medical specialties {{med-st ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Speech Pathology
Speech is a human vocal communication using language. Each language uses phonetic combinations of vowel and consonant sounds that form the sound of its words (that is, all English words sound different from all French words, even if they are the same word, e.g., "role" or "hotel"), and using those words in their semantic character as words in the lexicon of a language according to the syntactic constraints that govern lexical words' function in a sentence. In speaking, speakers perform many different intentional speech acts, e.g., informing, declaring, asking, persuading, directing, and can use enunciation, intonation, degrees of loudness, tempo, and other non-representational or paralinguistic aspects of vocalization to convey meaning. In their speech, speakers also unintentionally communicate many aspects of their social position such as sex, age, place of origin (through accent), physical states (alertness and sleepiness, vigor or weakness, health or illness), psychologic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Occupational Therapy
Occupational therapy (OT) is a global healthcare profession. It involves the use of assessment and intervention to develop, recover, or maintain the meaningful activities, or ''occupations'', of individuals, groups, or communities. The field of OT consists of health care practitioners trained and educated to improve mental and physical performance. Occupational therapists specialize in teaching, educating, and supporting participation in any activity that occupies an individual's time. It is an independent health profession sometimes categorized as an allied health profession and consists of occupational therapists (OTs) and occupational therapy assistants (OTAs). While OTs and OTAs have different roles, they both work with people who want to improve their mental and or physical health, disabilities, injuries, or impairments. The American Occupational Therapy Association defines an occupational therapist as someone who "helps people across their lifespan participate in the th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
