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Bainbridge–Ropers Syndrome
Bainbridge–Ropers syndrome was first identified in 2013 and is characterized by failure to thrive, feeding problems, hypotonia, intellectual disabilities, autism, postnatal growth delay, abnormal facial features such as arched eyebrows, anteverted nares, and delays in language acquisition. BRPS is extremely rare worldwide; more than thirty cases of BRPS have been reported abroad, and four cases have been reported in China. Signs and symptoms Morphological features of this syndrome include: * Arched eyebrows * Anteverted nares * Ulnar deviation of the hands * Microcephaly * Skeletal abnormalities, such as a "barrel chest", extremely high arched palate * Crowded teeth * Hypertelorism (wide-set eyes) * Scoliosis Genetics This condition is caused by a mutation in the ASXL3 gene, which is considered a de novo mutation. Genetic changes that are described as ''de novo'' (new) mutations can be either hereditary or somatic. In some cases, the mutation occurs in a person's egg or sp ... [...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] |
De Novo Mutation
A de novo mutation (DNM) is any mutation or alteration in the genome of an individual organism (human, animal, plant, microbe, etc.) that was not inherited from its parents. This type of mutation spontaneously occurs during the process of DNA replication during cell division. De novo mutations, by definition, are present in the affected individual but absent from both biological parents' genomes. A de novo mutation can arise in a sperm or egg cell and become a germline mutation, or after fertilization as a post-zygotic mutation that cannot be inherited by offspring. These mutations can occur in any cell of the offspring, but those in the germ line (eggs or sperm) can be passed on to the next generation. In most cases, such a mutation has little or no effect on the affected organism due to the redundancy and robustness of the genetic code. However, in rare cases, it can have notable and serious effects on overall health, physical appearance, and other traits. Disorders that most co ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intellectual Disability
Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental disorder characterized by significant impairment in intellectual and adaptive functioning that is first apparent during childhood. Children with intellectual disabilities typically have an intelligence quotient (IQ) below 70 and deficits in at least two adaptive behaviors that affect everyday living. According to the DSM-5, intellectual functions include reasoning, problem solving, planning, abstract thinking, judgment, academic learning, and learning from experience. Deficits in these functions must be confirmed by clinical evaluation and individualized standard IQ testing. On the other hand, adaptive behaviors include the social, developmental, and practical skills people learn to perform tasks in their everyday lives. Deficits in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Refractive Error
Refractive error is a problem with focus (optics), focusing light accurately on the retina due to the shape of the eye and/or cornea. The most common types of refractive error are myopia, near-sightedness, hyperopia, far-sightedness, astigmatism, and presbyopia. Near-sightedness results in far away objects being blurred vision, blurry, far-sightedness and presbyopia result in close objects being blurry, and astigmatism causes objects to appear stretched out or blurry. Other symptoms may include double vision, headaches, and eye strain. Near-sightedness is due to the length of the eyeball being too long; far-sightedness the eyeball too short; astigmatism the cornea being the wrong shape, while presbyopia results from aging of the lens of the eye such that it cannot change shape sufficiently. Some refractive errors occur more often among those whose parents are affected. Diagnosis is by eye examination. Refractive errors are corrected with eyeglasses, contact lenses, or surgery ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Strabismus
Strabismus is an eye disorder in which the eyes do not properly align with each other when looking at an object. The eye that is pointed at an object can alternate. The condition may be present occasionally or constantly. If present during a large part of childhood, it may result in amblyopia, or lazy eyes, and loss of depth perception. If onset is during adulthood, it is more likely to result in diplopia, double vision. Strabismus can occur out of muscle dysfunction (e.g., myasthenia gravis), farsightedness, problems in the brain, trauma, or infections. Risk factors include premature birth, cerebral palsy, and a family history of the condition. Types include esotropia, where the eyes are crossed ("cross eyed"); exotropia, where the eyes diverge ("lazy eyed" or "wall eyed"); and hypertropia or hypotropia, where they are vertically misaligned. They can also be classified by whether the problem is present in all directions a person looks (comitant) or varies by direction (inco ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sleep Apnea
Sleep apnea (sleep apnoea or sleep apnœa in British English) is a sleep-related breathing disorder in which repetitive Apnea, pauses in breathing, periods of shallow breathing, or collapse of the upper airway during sleep results in poor ventilation and sleep disruption. Each pause in breathing can last for a few seconds to a few minutes and often occurs many times a night. A choking or snorting sound may occur as breathing resumes. Common symptoms include daytime sleepiness, snoring, and non restorative sleep despite adequate sleep time. Because the disorder disrupts normal sleep, those affected may experience sleepiness or feel tired during the day. It is often a chronic condition. Sleep apnea may be categorized as obstructive sleep apnea (OSA), in which breathing is interrupted by a blockage of air flow, central sleep apnea (CSA), in which regular unconscious breath simply stops, or a combination of the two. OSA is the most common form. OSA has four key contributors; these ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epilepsy
Epilepsy is a group of Non-communicable disease, non-communicable Neurological disorder, neurological disorders characterized by a tendency for recurrent, unprovoked Seizure, seizures. A seizure is a sudden burst of abnormal electrical activity in the brain that can cause a variety of symptoms, ranging from brief lapses of awareness or muscle jerks to prolonged convulsions. These episodes can result in physical injuries, either directly, such as broken bones, or through causing accidents. The diagnosis of epilepsy typically requires at least two unprovoked seizures occurring more than 24 hours apart. In some cases, however, it may be diagnosed after a single unprovoked seizure if clinical evidence suggests a high risk of recurrence. Isolated seizures that occur without recurrence risk or are provoked by identifiable causes are not considered indicative of epilepsy. The underlying cause is often unknown, but epilepsy can result from brain injury, stroke, infections, Brain tumor, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nissen Fundoplication
A Nissen fundoplication, or laparoscopic Nissen fundoplication when performed via laparoscopic surgery, is a surgical procedure to treat gastroesophageal reflux disease (GERD) and hiatal hernia. In GERD, it is usually performed when medical therapy has failed; but, with a Type II (paraesophageal) hiatus hernia, it is the first-line procedure. The Nissen fundoplication is total (360°), but partial fundoplications known as Thal (270° anterior), Belsey (270° anterior transthoracic), Dor (anterior 180–200°), Lind (300° posterior), and Toupet fundoplications (posterior 270°) are alternative procedures with somewhat different indications and outcomes. History Dr. Rudolph Nissen (1896–1981) first performed the procedure in 1955 and published the results of two cases in a 1956 ''Swiss Medical Weekly''. In 1961 he published a more detailed overview of the procedure. Nissen originally called the surgery "gastroplication". The procedure has borne his name since it gained popula ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Antacid
An antacid is a substance which neutralization (chemistry), neutralizes gastric acid, stomach acidity and is used to relieve heartburn, indigestion, or an upset stomach. Some antacids have been used in the treatment of constipation and diarrhea. Marketed antacids contain Salt (chemistry), salts of aluminum, calcium, magnesium, or sodium. Some preparations contain a combination of two Salt (chemistry), salts, such as magnesium carbonate and aluminum hydroxide (e.g., hydrotalcite). Medical uses Antacids are available over the counter and are taken by mouth to quickly relieve occasional heartburn, the major symptom of gastroesophageal reflux disease and indigestion. Treatment with antacids alone is Symptomatic treatment, symptomatic and only justified for minor symptoms. Alternative uses for antacids include constipation, diarrhea, hyperphosphatemia, and urinary alkalization. Some antacids are also used as an Adjuvant therapy, adjunct to pancreatic enzyme replacement therapy in th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Feeding Tube
A feeding tube is a medical device used to provide nutrition to people who cannot obtain nutrition by mouth, are unable to swallow safely, or need nutritional supplementation. The state of being fed by a feeding tube is called gavage, enteral feeding or tube feeding. Placement may be temporary for the treatment of acute conditions or lifelong in the case of chronic disabilities. A variety of feeding tubes are used in medical practice. They are usually made of polyurethane or silicone. The outer diameter of a feeding tube is measured in French units (each French unit equals mm). They are classified by the site of insertion and intended use. Medical uses There are dozens of conditions that may require tube feeding (enteral nutrition) to prevent or treat malnutrition. Conditions that necessitate feeding tubes include prematurity, failure to thrive (or malnutrition), neurologic and neuromuscular disorders, inability to swallow, anatomical and post-surgical malformations ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bohring–Opitz Syndrome
Bohring–Opitz syndrome (BOS) is a genetic disorder caused by mutations in the ''ASXL1'' gene. Presentation This condition is characterised by craniofacial appearance, fixed contractures of the upper limbs, abnormal posture, feeding difficulties, intellectual disability, small size at birth and failure to thrive. Children with BOS can also have recurring respiratory infections, silent aspiration, sleep apnea, developmental delay, abnormal hair density and length, Wilms' tumors, brain abnormalities, and other issues. Genetics Genetically, de novo truncating mutations in ''ASXL1'' have been shown to account for approximately 50% of Bohring–Opitz syndrome cases. A second gene associated with this condition is the Kelch-like family member 7 ( KLHL7). Diagnosis As some of these features are shared with other genetic syndromes, the diagnosis is made by genetic testing Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breed ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
