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Neurocristopathy
Neurocristopathy is a diverse class of pathologies that may arise from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage. The term was coined by Robert P. Bolande in 1974. After the induction of the neural crest, the newly formed neural crest cells (NCC) delaminate from their tissue of origin and migrate from the entire neural axis of the vertebrate embryo to specific locations where they will give rise to different cell derivatives. The formation of this cell population therefore requires a timely and spatially controlled interplay of inter- and intra-cellular signals. An alteration in the occurrence and timing of these signals leads to a set of syndromes called Neurocristopathies (NCP), which comprises a broad spectrum of congenital malformations affecting an appreciable percentage of newborns. Moreover, since NCC migrate along the embryo, they are susceptible to subtle changes in the environment both during their ...
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Neural Crest
The neural crest is a ridge-like structure that is formed transiently between the epidermal ectoderm and neural plate during vertebrate development. Neural crest cells originate from this structure through the epithelial-mesenchymal transition, and in turn give rise to a diverse cell lineage—including melanocytes, craniofacial cartilage and bone, smooth muscle, dentin, peripheral and enteric neurons, adrenal medulla and glia. After gastrulation, the neural crest is specified at the border of the neural plate and the non-neural ectoderm. During neurulation, the borders of the neural plate, also known as the neural folds, converge at the dorsal midline to form the neural tube. Subsequently, neural crest cells from the roof plate of the neural tube undergo an epithelial to mesenchymal transition, delaminating from the neuroepithelium and migrating through the periphery, where they differentiate into varied cell types. The emergence of the neural crest was important in v ...
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Ondine's Curse
Central hypoventilation syndrome (CHS) is a sleep-related breathing disorder that causes ineffective breathing, apnea, or respiratory arrest during sleep (and during wakefulness in severe cases). CHS can either be congenital (CCHS) or acquired (ACHS) later in life. The condition can be fatal if untreated. CCHS was once known as Ondine's curse. ACHS can develop as a result of severe injury or trauma to the brain or brainstem. Congenital cases are very rare and involve a failure of autonomic control of breathing. In 2006, there were only about 200 known cases worldwide. As of 2008, only 1000 total cases were known. The diagnosis may be delayed because of variations in the severity of the manifestations or lack of awareness in the medical community, particularly in milder cases. However, as there have been cases where asymptomatic family members also were found to have CCHS, it may be that these figures only reflect those found to require mechanical ventilation. In all cases, epi ...
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Piebaldism
Piebaldism refers to the absence of mature melanin-forming cells (melanocytes) in certain areas of the skin and hair. It is a rare autosomal dominant disorder of melanocyte development.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . Common characteristics include a congenital white forelock, scattered normal pigmented and hypopigmented macules and a triangular shaped depigmented patch on the forehead. There is nevertheless great variation in the degree and pattern of presentation, even within affected families. In some cases, piebaldism occurs together with severe developmental problems, as in Waardenburg syndrome and Hirschsprung's disease. Piebaldism has been documented to occur in all races, and is found in nearly every species of mammal. The condition is very common in mice, rabbits, dogs, sheep, deer, cattle and horses—where selective breeding has increased the incidence of the mutation� ...
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Craniofrontonasal Syndrome
Craniofrontonasal dysplasia (craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very rare X-linked malformation syndrome caused by mutations in the ephrin-B1 gene (''EFNB1''). Phenotypic expression varies greatly amongst affected individuals, where females are more commonly and generally more severely affected than males. Common physical malformations are: craniosynostosis of the coronal suture(s), orbital hypertelorism, wikt:bifid, bifid nasal tip, dry frizzy curled hair, longitudinal ridging and/or splitting of the nails, and facial asymmetry. The diagnosis CFND is determined by the presence of a mutation in the EFNB1 gene. Physical characteristics may play a supportive role in establishing the diagnosis. The treatment is always surgical and is based on each patients specific phenotypic presentation. Presentation Phenotypic expression varies greatly between individuals with CFND. Some of the more prominent characteristics are: * Craniosynostosis of the cor ...
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Congenital Disorders
A birth defect 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 birth defects are believed to involve multiple factors. Birth defects may be visible at birth or diagn ...
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1974 In Biology
Major events in 1974 include the aftermath of the 1973 oil crisis and the resignation of President of the United States, United States President Richard Nixon following the Watergate scandal. In the Middle East, the aftermath of the 1973 Yom Kippur War determined politics; following List of Prime Ministers of Israel, Israeli Prime Minister Golda Meir's resignation in response to high Israeli casualties, she was succeeded by Yitzhak Rabin. In Europe, the Turkish invasion of Cyprus, invasion and occupation of northern Cyprus by Turkey, Turkish troops initiated the Cyprus dispute, the Carnation Revolution took place in Portugal, the Greek junta's collapse paves the way for the establishment of a Metapolitefsi, parliamentary republic and Chancellor of Germany, Chancellor of West Germany Willy Brandt resigned following an Guillaume affair, espionage scandal surrounding his secretary Günter Guillaume. In sports, the year was primarily dominated by the 1974 FIFA World Cup, FIFA World ...
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Medical Terminology
Medical terminology is a language used to precisely describe the human body including all its components, processes, conditions affecting it, and procedures performed upon it. Medical terminology is used in the field of medicine. Medical terminology has quite regular morphology, the same prefixes and suffixes are used to add meanings to different roots. The root of a term often refers to an organ, tissue, or condition. For example, in the disorder known as hypertension, the prefix "hyper-" means "high" or "over", and the root word "tension" refers to pressure, so the word "hypertension" refers to abnormally high blood pressure. The roots, prefixes and suffixes are often derived from Greek or Latin, and often quite dissimilar from their English-language variants. This regular morphology means that once a reasonable number of morphemes are learnt it becomes easy to understand very precise terms assembled from these morphemes. Much medical language is anatomical terminology, conc ...
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Animal Developmental Biology
Animals are multicellular, eukaryotic organisms in the biological kingdom Animalia (). With few exceptions, animals consume organic material, breathe oxygen, have myocytes and are able to move, can reproduce sexually, and grow from a hollow sphere of cells, the blastula, during embryonic development. Animals form a clade, meaning that they arose from a single common ancestor. Over 1.5 million living animal species have been described, of which around 1.05 million are insects, over 85,000 are molluscs, and around 65,000 are vertebrates. It has been estimated there are as many as 7.77 million animal species on Earth. Animal body lengths range from to . They have complex ecologies and interactions with each other and their environments, forming intricate food webs. The scientific study of animals is known as zoology, and the study of animal behaviour is known as ethology. The animal kingdom is divided into five major clades, namely Porifera, Ctenophora, Placozo ...
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Nosology
Nosology () is the branch of medical science that deals with the classification of diseases. Fully classifying a medical condition requires knowing its cause (and that there is only one cause), the effects it has on the body, the symptoms that are produced, and other factors. For example, influenza is classified as an infectious disease because it is caused by a virus, and it is classified as a respiratory infection because the virus infects and damages certain tissues in the respiratory tract. The more that is known about the disease, the more ways the disease can be classified nosologically. Nosography is a description whose primary purpose is enabling a diagnostic label to be put on the situation. As such, a nosographical entity need not have a single cause. For example, inability to speak due to advanced dementia and an inability to speak due to a stroke could be nosologically different but nosographically the same. Types of classification Diseases may be classifie ...
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Etiological
Etiology (; alternatively spelled aetiology or ætiology) is the study of causation or origination. The word is derived from the Greek word ''()'', meaning "giving a reason for" (). More completely, etiology is the study of the causes, origins, or reasons behind the way that things are, or the way they function, or it can refer to the causes themselves. The word is commonly used in medicine (pertaining to causes of disease or illness) and in philosophy, but also in physics, biology, psychology, political science, geography, cosmology, spatial analysis and theology in reference to the causes or origins of various phenomena. In the past, when many physical phenomena were not well understood or when histories were not recorded, myths often arose to provide etiologies. Thus, an etiological myth, or origin myth, is a myth that has arisen, been told over time or written to explain the origins of various social or natural phenomena. For example, Virgil's ''Aeneid'' is a national ...
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Multiple Sclerosis
Multiple sclerosis (MS) is an autoimmune disease resulting in damage to myelinthe insulating covers of nerve cellsin the brain and spinal cord. As a demyelinating disease, MS disrupts the nervous system's ability to Action potential, transmit signals, resulting in a range of signs and symptoms, including physical, cognitive disability, mental, and sometimes psychiatric problems. Symptoms include double vision, vision loss, eye pain, muscle weakness, and loss of Sensation (psychology), sensation or coordination. MS takes several forms, with new symptoms either occurring in isolated attacks (relapsing forms) or building up over time (progressive forms). In relapsing forms of MS, symptoms may disappear completely between attacks, although some permanent neurological problems often remain, especially as the disease advances. In progressive forms of MS, bodily function slowly deteriorates once symptoms manifest and will steadily worsen if left untreated. While its cause is unclear, ...
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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 ...
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