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Trisomy 18
Trisomy 18, also known as Edwards syndrome, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. Many parts of the body are affected. Babies are often born small and have heart defects. Other features include a small head, small jaw, clenched fists with overlapping fingers, and severe intellectual disability. Most cases of trisomy 18 occur due to problems during the formation of the reproductive cells or during early development. The chance of this condition occurring increases with the mother's age. Rarely, cases may be inherited. Occasionally, not all cells have the extra chromosome, known as mosaic trisomy, and symptoms in these cases may be less severe. An ultrasound during pregnancy can increase suspicion for the condition, which can be confirmed by amniocentesis. Treatment is supportive. After having one child with the condition, the risk of having a second is typically around one percent. It is the second-most common co ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mosaic Trisomy
A mosaic () is a pattern or image made of small regular or irregular pieces of colored stone, glass or ceramic, held in place by plaster/ mortar, and covering a surface. Mosaics are often used as floor and wall decoration, and were particularly popular in the Ancient Roman world. Mosaic today includes not just murals and pavements, but also artwork, hobby crafts, and industrial and construction forms. Mosaics have a long history, starting in Mesopotamia in the 3rd millennium BC. Pebble mosaics were made in Tiryns in Mycenean Greece; mosaics with patterns and pictures became widespread in classical times, both in Ancient Greece and Ancient Rome. Early Christian basilicas from the 4th century onwards were decorated with wall and ceiling mosaics. Mosaic art flourished in the Byzantine Empire from the 6th to the 15th centuries; that tradition was adopted by the Norman Kingdom of Sicily in the 12th century, by the eastern-influenced Republic of Venice, and among the Rus. Mosaic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Breathing Difficulties
Shortness of breath (SOB), known as dyspnea (in AmE) or dyspnoea (in BrE), is an uncomfortable feeling of not being able to breathe well enough. The American Thoracic Society defines it as "a subjective experience of breathing discomfort that consists of qualitatively distinct sensations that vary in intensity", and recommends evaluating dyspnea by assessing the intensity of its distinct sensations, the degree of distress and discomfort involved, and its burden or impact on the patient's activities of daily living. Distinct sensations include effort/work to breathe, chest tightness or pain, and "air hunger" (the feeling of not enough oxygen). The tripod position is often assumed to be a sign. Dyspnea is a normal symptom of heavy physical exertion but becomes pathological if it occurs in unexpected situations, when resting or during light exertion. In 85% of cases it is due to asthma, pneumonia, reflux/LPR, cardiac ischemia, COVID-19, interstitial lung disease, congestive h ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Feeding Difficulties
Dysphagia is difficulty in swallowing. Although classified under "symptoms and signs" in ICD-10, in some contexts it is classified as a condition in its own right. It may be a sensation that suggests difficulty in the passage of solids or liquids from the mouth to the stomach, a lack of pharyngeal sensation or various other inadequacies of the swallowing mechanism. Dysphagia is distinguished from other symptoms including odynophagia, which is defined as painful swallowing, and globus, which is the sensation of a lump in the throat. A person can have dysphagia without odynophagia (dysfunction without pain), odynophagia without dysphagia (pain without dysfunction) or both together. A psychogenic dysphagia is known as phagophobia. Classification Dysphagia is classified into the following major types: # Oropharyngeal dysphagia # Esophageal and obstructive dysphagia # Neuromuscular symptom complexes # Functional dysphagia is defined in some patients as having no organic cause fo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Esophageal Atresia
Esophageal atresia is a congenital medical condition (birth defect) that affects the alimentary tract. It causes the esophagus to end in a blind-ended pouch rather than connecting normally to the stomach. It comprises a variety of congenital anatomic defects that are caused by an abnormal embryological development of the esophagus. It is characterized anatomically by a congenital obstruction of the esophagus with interruption of the continuity of the esophageal wall. Pathophysiology The genetic causes of EA/TEF include chromosome anomalies or variants in genes involved in critical developmental processes which are dosage sensitive. Several EA/TEF risk genes have been discovered include the transcriptional regulators SOX2, MYCN, CHD7, FANCB, and members of FOX transcription factor family. Others plausible candidate genes in the etiology of EA/TEF were identified as APC2, AMER3, PCDH1, GTF3C1, POLR2B, RAB3GAP2, and ITSN1. Signs and symptoms This birth defect arises in the fou ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Omphalocele
An omphalocele or omphalocoele, also known as an exomphalos, is a rare abdominal wall defect. Beginning at the 6th week of development, rapid elongation of the gut and increased liver size reduces intra abdominal space, which pushes intestinal loops out of the abdominal cavity. Around 10th week, the intestine returns to the abdominal cavity and the process is completed by the 12th week. Persistence of intestine or the presence of other abdominal viscera (e.g. stomach, liver) in the umbilical cord results in an omphalocele. Omphalocele occurs in 1 in 4,000 births and is associated with a high rate of mortality (25%) and severe malformations, such as cardiac anomalies (50%), neural tube defect (40%), exstrophy of the bladder and Beckwith–Wiedemann syndrome. Approximately 15% of live-born infants with omphalocele have chromosomal abnormalities. About 30% of infants with an omphalocele have other congenital abnormalities. Signs and symptoms The sac, which is formed from an out ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Patent Ductus Arteriosus
Patent ductus arteriosus (PDA) is a medical condition in which the ''ductus arteriosus'' fails to close after childbirth, birth: this allows a portion of oxygenated blood from the left heart to flow back to the lungs from the aorta, which has a higher blood pressure, to the pulmonary artery, which has a lower blood pressure. Symptoms are uncommon at birth and shortly thereafter, but later in the first year of life there is often the onset of an increased work of breathing and Failure to thrive, failure to gain weight at a normal rate. With time, an uncorrected PDA usually leads to pulmonary hypertension followed by right-sided heart failure. The ''ductus arteriosus'' is a Fetal circulation, fetal blood vessel that normally closes soon after birth. This closure is caused by vessel constriction immediately after birth as circulation changes occur, followed by the occlusion of the vessel’s lumen in the following days. In a PDA, the vessel does not close, but remains ''patent'' (ope ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Atrial Septal Defect
Atrial septal defect (ASD) is a congenital heart defect in which blood flows between the atrium (heart), atria (upper chambers) of the heart. Some flow is a normal condition both pre-birth and immediately post-birth via the Foramen ovale (heart), foramen ovale; however, when this does not naturally close after birth it is referred to as a patent (open) foramen ovale (PFO). It is common in patients with a congenital interatrial septum, atrial septal aneurysm (ASA). After PFO closure the atria normally are separated by a dividing wall, the interatrial septum. If this septum is defective or absent, then oxygen-rich blood can flow directly from the left side of the heart to mix with the oxygen-poor blood in the right side of the heart; or the opposite, depending on whether the left or right atrium has the higher blood pressure. In the absence of other heart defects, the left atrium has the higher pressure. This can lead to lower-than-normal oxygen levels in the arterial blood that su ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ventricular Septal Defect
A ventricular septal defect (VSD) is a defect in the ventricular septum, the wall dividing the left and right ventricles of the heart. It's a common heart problem present at birth ( congenital heart defect). The extent of the opening may vary from pin size to complete absence of the ventricular septum, creating one common ventricle. The ventricular septum consists of an inferior muscular and superior membranous portion and is extensively innervated with conducting cardiomyocytes. The membranous portion, which is close to the atrioventricular node, is most commonly affected in adults and older children in the United States. It is also the type that will most commonly require surgical intervention, comprising over 80% of cases. Membranous ventricular septal defects are more common than muscular ventricular septal defects, and are the most common congenital cardiac anomaly. Signs and symptoms Ventricular septal defect is usually symptomless at birth. It usually manifests a fe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Overlapping Fingers
Overlap may refer to: * In set theory, an overlap of elements shared between sets is called an intersection, as in a Venn diagram. * In music theory, overlap is a synonym for reinterpretation of a chord at the boundary of two musical phrases * Overlap (railway signalling), the length of track beyond a stop signal that is proved to be clear of obstructions as a safety margin * Overlap (road), a place where multiple road numbers overlap * Overlap (term rewriting), in mathematics, computer science, and logic, a property of the reduction rules in term rewriting systems * Overlap add, an efficient convolution method using FFT * Overlap coefficient, a similarity measure between sets * Orbital overlap, important concept in quantum mechanics describing a type of orbital interaction that affects bond strength * Overlap, publisher of the light novel series '' Arifureta: From Commonplace to World's Strongest'' Overlapping can refer to: * "Reaching over", term in Schenkerian theory, see Schen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
John Hilton Edwards
John Hilton Edwards (26 March 1928 – 11 October 2007) was a British medical geneticist. Edwards reported the first description of a syndrome of multiple congenital malformations associated the presence of an extra chromosome. The extra chromosome belonged to the E group of chromosomes which consisted of chromosomes 16, 17 and 18. The condition is now known as Edwards syndrome or trisomy 18 syndrome. In 1979, Edwards was elected to fellowship of the Royal Society. He was a Oxbridge Fellow, Fellow of Keble College, Oxford, and Professor of Genetics, University of Oxford, Professor of Genetics at University of Oxford, Oxford from 1979 to 1995. He was the son of the surgeon Harold C. Edwards. His brother is the geneticist and statistician A.W.F. Edwards. Early in his career, he worked under Lancelot Hogben, and was sometimes distinguished from the brother as "Hogben's Edwards". References External links Further information John Hilton Edwards(a short biography). * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
