Achalasia Microcephaly
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Achalasia Microcephaly
Achalasia microcephaly syndrome is a rare condition whereby achalasia in the oesophagus manifests alongside microcephaly and mental retardation. This is a rare constellation of symptoms with a predicted familial trend. The main signs of achalasia microcephaly syndrome involve the manifestation of each individual disease associated with the condition. Microcephaly can be primary, where the brain fails to develop properly during pregnancy, or secondary, where the brain is normal sized at birth but fails to grow as the child ages. Abnormalities will be observed progressively after birth whereby the child will display stunted growth and physical and cognitive development. The occipital-frontal circumference will be at or near the extreme lower end, the third percentile, indicating microcephaly. There are both genetic and behavioural causes of microcephaly. Achalasia, or Esophageal achalasia, oesophageal achalasia, is a disorder occurring in the lower oesophageal sphincter (LES). The L ...
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Microcephaly
Microcephaly (from New Latin ''microcephalia'', from Ancient Greek μικρός ''mikrós'' "small" and κεφαλή ''kephalé'' "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it may develop in the first few years of life. Since brain growth is correlated with head growth, people with this disorder often have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures and dwarfism. The disorder is caused by a disruption to the genetic processes that form the brain early in pregnancy, though the cause is not identified in most cases. Many genetic syndromes can result in microcephaly, including chromosomal and single-gene conditions, though almost always in combination with other symptoms. Mutations that result solely in microcephaly (primary microcephaly) exist but are less common. External toxins to the embryo, such as alcohol during pregnancy or vertically transmitted infec ...
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Esophageal Achalasia
Esophageal achalasia, often referred to simply as achalasia, is a failure of smooth muscle fibers to relax, which can cause the lower esophageal sphincter to remain closed. Without a modifier, "achalasia" usually refers to achalasia of the esophagus. Achalasia can happen at various points along the gastrointestinal tract; achalasia of the rectum, for instance, may occur in Hirschsprung's disease. The lower esophageal sphincter is a muscle between the esophagus and stomach that opens when food comes in. It closes to avoid stomach acids from coming back up. A fully understood cause to the disease is unknown, as are factors that increase the risk of its appearance. Suggestions of a genetically transmittable form of achalasia exist, but this is neither fully understood, nor agreed upon. Esophageal achalasia is an esophageal motility disorder involving the smooth muscle layer of the esophagus and the lower esophageal sphincter (LES). It is characterized by incomplete LES relaxation, ...
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Northern Mexico
Northern Mexico ( es, el Norte de México ), commonly referred as , is an informal term for the northern cultural and geographical area in Mexico. Depending on the source, it contains some or all of the states of Baja California, Baja California Sur, Chihuahua, Coahuila, Durango, Nuevo León, Sinaloa, Sonora and Tamaulipas. There is no specific border that separates the northern states from the southern states in Mexico. For some authors, only states that have a border with the United States are considered as northern Mexico, i.e. Baja California, Chihuahua, Coahuila, Nuevo León, Sonora and Tamaulipas. Others also include Durango, Sinaloa and Baja California Sur. Other people consider that the north starts above the Tropic of Cancer, but this description would include some parts of Zacatecas and San Luis Potosí that are not considered northern states. History Before colonization It is not known exactly when the first settlers came to Northern Mexico. The harsh cli ...
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Heller Myotomy
Heller myotomy is a surgical procedure in which the muscles of the cardia (lower esophageal sphincter or LES) are cut, allowing food and liquids to pass to the stomach. It is used to treat achalasia, a disorder in which the lower esophageal sphincter fails to relax properly, making it difficult for food and liquids to reach the stomach. History and development It was first performed by Ernst Heller (1877–1964) in 1913. Then and until recently, this surgery was performed using an open procedure, either through the chest (thoracotomy) or through the abdomen (laparotomy). However, open procedures involve greater recovery times. Modern Heller myotomy is normally performed using minimally invasive laparoscopic techniques, which minimize risks and speeds recovery significantly. The 100th anniversary of Heller's description of the surgical treatment of patients with achalasia was celebrated in 2014. Procedure During the procedure, the patient is put under general anaesthesia. Five o ...
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TORCH Syndrome
TORCH syndrome is a cluster of symptoms caused by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms including syphilis, parvovirus, and Varicella zoster. Zika virus is considered the most recent member of TORCH infections. ''TORCH'' is an acronym for , Agents, , , and Simplex. Signs and symptoms Though caused by different infections, the signs and symptoms of TORCH syndrome are consistent. They include hepatosplenomegaly (enlargement of the liver and spleen), fever, lethargy, difficulty feeding, anemia, petechiae, purpurae, jaundice, and chorioretinitis. The specific infection may cause additional symptoms. TORCH syndrome may develop before birth, causing stillbirth, in the neonatal period, or later in life. Pathophysiology TORCH syndrome is caused by in-utero infection with one of the TORCH agents, disrupting fetal development Prenatal development () includes the development of the embryo and of the fetus during a ...
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Normal Barium Swallow Animation
Normal(s) or The Normal(s) may refer to: Film and television * ''Normal'' (2003 film), starring Jessica Lange and Tom Wilkinson * ''Normal'' (2007 film), starring Carrie-Anne Moss, Kevin Zegers, Callum Keith Rennie, and Andrew Airlie * ''Normal'' (2009 film), an adaptation of Anthony Neilson's 1991 play ''Normal: The Düsseldorf Ripper'' * ''Normal!'', a 2011 Algerian film * ''The Normals'' (film), a 2012 American comedy film * "Normal" (''New Girl''), an episode of the TV series Mathematics * Normal (geometry), an object such as a line or vector that is perpendicular to a given object * Normal basis (of a Galois extension), used heavily in cryptography * Normal bundle * Normal cone, of a subscheme in algebraic geometry * Normal coordinates, in differential geometry, local coordinates obtained from the exponential map (Riemannian geometry) * Normal distribution, the Gaussian continuous probability distribution * Normal equations, describing the solution of the linear least sq ...
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Barium Swallow
An upper gastrointestinal series, also called a barium swallow, barium study, or barium meal, is a series of radiographs used to examine the gastrointestinal tract for abnormalities. A contrast medium, usually a radiocontrast agent such as barium sulfate mixed with water, is ingested or instilled into the gastrointestinal tract, and X-rays are used to create radiographs of the regions of interest. The barium enhances the visibility of the relevant parts of the gastrointestinal tract by coating the inside wall of the tract and appearing white on the film. This in combination with other plain radiographs allows for the imaging of parts of the upper gastrointestinal tract such as the pharynx, larynx, esophagus, stomach, and small intestine such that the inside wall lining, size, shape, contour, and patency are visible to the examiner. With fluoroscopy, it is also possible to visualize the functional movement of examined organs such as swallowing, peristalsis, or sphincter closure. Dep ...
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Esophageal Manometry
An esophageal motility study (EMS) or esophageal manometry is a test to assess motor function of the upper esophageal sphincter (UES), esophageal body and lower esophageal sphincter (LES). Indications An EMS is typically done to evaluate suspected disorders of motility or peristalsis of the esophagus. These include achalasia, diffuse esophageal spasm, nutcracker esophagus and hypertensive lower esophageal sphincter. These disorders typically present with dysphagia, or difficulty swallowing, usually to both solids and liquids even initially. Other patients with spasm disorders may have the test done to diagnose chest pain thought not to be of cardiac cause. The test is not useful for anatomical disorders of the esophagus (that is, disorders that distort the anatomy of the esophagus), such as peptic strictures and esophageal cancer. Procedure A technician places a catheter into the nose and then guides it into the stomach. Once placed in the stomach lining, the catheter is slowly ...
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Congenital Disorders Of Nervous System
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be visi ...
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