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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 (AS) is a genetic disorder that affects approximately 1 in 15,000 individuals. AS impairs the function of the nervous system, producing symptoms, such as severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, hyperactivity, and sleep problems. Physical symptoms include a small head and a specific facial appearance. Additionally, those affected usually have a happy personality and have a particular interest in water. Angelman syndrome involves genes that have also been linked to 1–2% of autism spectrum disorder cases. Epidemiology Though the prevalence of Angelman syndrome is not precisely known, there are some estimates. The best data available are from studies of school age children, ages 6–13 years, living in Sweden and from Denmark where the diagnosis of AS children in medical clinics was compared to an 8-year period of about 45,000 births. The Swedish study showed an AS preva ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Heart Defect
A congenital heart defect (CHD), also known as a congenital heart anomaly, congenital cardiovascular malformation, 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 are variable and 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. Congenital heart defects are the most common birth defect. In 2015, they were present in 48.9 million people globally. They affect between 4 and 75 per 1,000 live births, depending upon how they are diagnosed. In about 6 to 19 per 1,000 they cause a moderate to severe degree of problems. Congenital heart defects are t ... [...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. Most children develop signs and symptoms shortly after birth. However, others may be diagnosed later in infancy or early childhood. About half of all children with Hirschsprung's disease are diagnosed in the first year 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 o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Surgeon
In medicine, a surgeon is a medical doctor who performs surgery. Even though there are different traditions in different times and places, a modern surgeon is a licensed physician and received the same medical training as physicians before specializing in surgery. In some countries and jurisdictions, the title of 'surgeon' is restricted to maintain the integrity of the craft group in the medical profession. A specialist regarded as a legally recognized surgeon includes 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.Papel, Ira D. and Frodel, John (2008) ''Facial Plastic and Reconstructive Surgery''. Thieme Medical Pub. His Masterpiece, magnum opus ''Suśruta-saṃhitā'' is one of the m ... [...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 include 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, inflammatory bowel disease (IBD ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Heart Disease
A congenital heart defect (CHD), also known as a congenital heart anomaly, congenital cardiovascular malformation, 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 are variable and 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. Congenital heart defects are the most common birth defect. In 2015, they were present in 48.9 million people globally. They affect between 4 and 75 per 1,000 live births, depending upon how they are diagnosed. In about 6 to 19 per 1,000 they cause a moderate to severe degree of problems. Congenital heart defects are th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cardiologist
Cardiology () is the study of the heart. 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 sub-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 in the branch of medicine 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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Subspecialty
A subspecialty or subspeciality (see spelling differences) 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, psychiatry and has grown as medical practice has: # become more complex, and # it has become clear that a physician'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 * Medical specialty A medical specialty is a branch of medical practice that is focused on a defined group of patients, diseases, skills, or philosophy. Examples include those branches of medicine that deal exclusively with children (pediatrics), cancer (oncology), ... Notes and references Medical specialties ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Speech Pathology
Speech is the use of the human voice as a medium for language. Spoken language combines vowel and consonant sounds to form units of meaning like words, which belong to a language's lexicon. There are many different intentional speech acts, such as informing, declaring, asking, persuading, directing; acts may vary in various aspects like enunciation, intonation, loudness, and tempo to convey meaning. Individuals may also unintentionally communicate aspects of their social position through speech, such as sex, age, place of origin, physiological and mental condition, education, and experiences. While normally used to facilitate communication with others, people may also use speech without the intent to communicate. Speech may nevertheless express emotions or desires; people talk to themselves sometimes in acts that are a development of what some psychologists (e.g., Lev Vygotsky) have maintained is the use of silent speech in an interior monologue to vivify and organize co ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Occupational Therapy
Occupational therapy (OT), also known as ergotherapy, is a healthcare profession. Ergotherapy is derived from the Greek wiktionary:ergon, ergon which is allied to work, to act and to be active. Occupational therapy is based on the assumption that engaging in meaningful activities, also referred to as occupations, is a basic human need and that purposeful activity has a health-promoting and therapeutic effect. Occupational science the study of humans as 'doers' or 'occupational beings' was developed by inter-disciplinary scholars, including occupational therapists, in the 1980s. The World Federation of Occupational Therapists (WFOT) defines occupational therapy as ‘a client-centred health profession concerned with promoting health and wellbeing through occupation. The primary goal of occupational therapy is to enable people to participate in the activities of everyday life. Occupational therapists achieve this outcome by working with people and communities to enhance their abi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Physiotherapy
Physical therapy (PT), also known as physiotherapy, is a healthcare profession, as well as the care provided by physical therapists who promote, maintain, or restore health through patient education, physical intervention, disease prevention, and health promotion. Physical therapist is the term used for such professionals in the United States, and physiotherapist is the term used in many other countries. The career has many specialties including musculoskeletal, orthopedics, cardiopulmonary, neurology, endocrinology, sports medicine, geriatrics, pediatrics, women's health, wound care and electromyography. PTs practice in many settings, both public and private. In addition to clinical practice, other aspects of physical therapy practice include research, education, consultation, and health administration. Physical therapy is provided as a primary care treatment or alongside, or in conjunction with, other medical services. In some jurisdictions, such as the United Ki ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
