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Smith–Magenis Syndrome
Smith–Magenis syndrome (SMS), also known as 17p-microdeletion syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17. It has features including intellectual disability, facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm. Smith–Magenis syndrome affects an estimated between 1 in 15,000 to 1 in 25,000 individuals. Signs and symptoms Facial features of children with Smith–Magenis syndrome include a broad and square face, deep-set eyes, large cheeks, and a prominent jaw, as well as a flat nose bridge (in the young child; as the child ages it becomes more ski-jump shaped). Eyes tend to be deep-set, close together, and slanted upwards. Eyebrows are heavy with lateral extension. The mouth is the most noticeable feature; both upper and lower lips are full, and the mouth is wide. The mouth curves downwards and the upper lip curves outwards, due to a fleshy philtrum. These facial features b ... [...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] |
Myopia
Myopia, also known as near-sightedness and short-sightedness, is an eye condition where light from distant objects focuses in front of, instead of on, the retina. As a result, distant objects appear blurry, while close objects appear normal. Other symptoms may include headaches and eye strain. Severe myopia is associated with an increased risk of macular degeneration, retinal detachment, cataracts, and glaucoma. Myopia results from the length of the eyeball growing too long or less commonly the lens being too strong. It is a type of refractive error. Diagnosis is by the use of cycloplegics during eye examination. Tentative evidence indicates that the risk of myopia can be decreased by having young children spend more time outside. This decrease in risk may be related to natural light exposure. Myopia can be corrected with eyeglasses, contact lenses, or by refractive surgery. Eyeglasses are the simplest and safest method of correction. Contact lenses can provide a rela ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Attention Deficit Disorder
Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterised by symptoms of inattention, hyperactivity, impulsivity, and emotional dysregulation that are excessive and pervasive, impairing in multiple contexts, and Developmental psychology, developmentally inappropriate. ADHD symptoms arise from executive dysfunction. Impairments resulting from deficits in self-regulation such as time management, Cognitive inhibition, inhibition, task initiation, and sustained attention can include poor professional performance, relationship difficulties, and numerous health risks, collectively predisposing to a diminished Quality of life (healthcare), quality of life and a reduction in life expectancy. As a consequence, the disorder costs society hundreds of billions of US dollars each year, worldwide. It is associated with other mental disorders as well as non-psychiatric disorders, which can cause additional impairment. While ADHD involves a lack of su ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Attention Deficit/hyperactivity Disorder
Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterised by symptoms of inattention, hyperactivity, impulsivity, and emotional dysregulation that are excessive and pervasive, impairing in multiple contexts, and developmentally inappropriate. ADHD symptoms arise from executive dysfunction. Impairments resulting from deficits in self-regulation such as time management, inhibition, task initiation, and sustained attention can include poor professional performance, relationship difficulties, and numerous health risks, collectively predisposing to a diminished quality of life and a reduction in life expectancy. As a consequence, the disorder costs society hundreds of billions of US dollars each year, worldwide. It is associated with other mental disorders as well as non-psychiatric disorders, which can cause additional impairment. While ADHD involves a lack of sustained attention to tasks, inhibitory deficits also can lead to difficulty ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autism
Autism, also known as autism spectrum disorder (ASD), is a neurodevelopmental disorder characterized by differences or difficulties in social communication and interaction, a preference for predictability and routine, sensory processing differences, focused interests, and repetitive behaviors, which may include stimming. Formal diagnosis requires significant challenges in multiple domains of life, with characteristics that are atypical or more pronounced than expected for one's age and sociocultural context.(World Health Organization: International Classification of Diseases version 11 (ICD-11)): https://icd.who.int/browse/2024-01/mms/en#437815624 Motor coordination difficulties are common but not required for diagnosis. Autism is a spectrum disorder, resulting in wide variations in presentation and support needs, such as that between speaking and non-speaking populations. Increased estimates of autism prevalence since the 1990s are primarily attributed to broader c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fluorescent In Situ Hybridization
Fluorescence ''in situ'' hybridization (FISH) is a cytogenetics, molecular cytogenetic technique that uses hybridization probe, fluorescent probes that bind to only particular parts of a nucleic acid sequence with a high degree of sequence Complementarity (molecular biology), complementarity. It was developed by biomedical researchers in the early 1980s to detect and localize the presence or absence of specific DNA DNA sequence, sequences on chromosomes. Fluorescence microscopy can be used to find out where the fluorescent probe is bound to the chromosomes. FISH is often used for finding specific features in DNA for use in genetic counseling, medicine, and species identification. FISH can also be used to detect and localize specific RNA targets (mRNA, Long non-coding RNA, lncRNA and miRNA) in cells, circulating tumor cells, and tissue samples. In this context, it can help define the spatial-temporal patterns of gene expression within cells and tissues. Probes – RNA and DNA ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cytogenetics
Cytogenetics is essentially a branch of genetics, but is also a part of cell biology/cytology (a subdivision of human anatomy), that is concerned with how the chromosomes relate to cell behaviour, particularly to their behaviour during mitosis and meiosis. Techniques used include Karyotype, karyotyping, analysis of G banding, G-banded chromosomes, other cytogenetic banding techniques, as well as molecular cytogenetics such as Fluorescence in situ hybridization, fluorescence ''in situ'' hybridization (FISH) and comparative genomic hybridization (CGH). History Beginnings Chromosomes were first observed in plant cells by Carl Nägeli in 1842. Their behavior in animal (salamander) cells was described by Walther Flemming, the discoverer of mitosis, in 1882. The name was coined by another German anatomist, Heinrich Wilhelm Gottfried von Waldeyer-Hartz, von Waldeyer in 1888. The next stage took place after the development of genetics in the early 20th century, when it was appreciated ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
James R
James may refer to: People * James (given name) * James (surname) * James (musician), aka Faruq Mahfuz Anam James, (born 1964), Bollywood musician * James, brother of Jesus * King James (other), various kings named James * Prince James (other) * Saint James (other) Places Canada * James Bay, a large body of water * James, Ontario United Kingdom * James College, York, James College, a college of the University of York United States * James, Georgia, an unincorporated community * James, Iowa, an unincorporated community * James City, North Carolina * James City County, Virginia ** James City (Virginia Company) ** James City Shire * James City, Pennsylvania * St. James City, Florida Film and television * James (2005 film), ''James'' (2005 film), a Bollywood film * James (2008 film), ''James'' (2008 film), an Irish short film * James (2022 film), ''James'' (2022 film), an Indian Kannada-language film * "James", a television Adventure Time (season 5)#ep42, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CLOCK
A clock or chronometer is a device that measures and displays time. The clock is one of the oldest Invention, human inventions, meeting the need to measure intervals of time shorter than the natural units such as the day, the lunar month, and the year. Devices operating on several physical processes have been used over the Millennium, millennia. Some predecessors to the modern clock may be considered "clocks" that are based on movement in nature: A sundial shows the time by displaying the position of a shadow on a flat surface. There is a range of duration timers, a well-known example being the hourglass. Water clocks, along with sundials, are possibly the oldest time-measuring instruments. A major advance occurred with the invention of the verge escapement, which made possible the first mechanical clocks around 1300 in Europe, which kept time with oscillating timekeepers like balance wheels., pp. 103–104., p. 31. Traditionally, in horology (the study of timekeeping), the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Transcription Factor
In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription (genetics), transcription of genetics, genetic information from DNA to messenger RNA, by binding to a specific DNA sequence. The function of TFs is to regulate—turn on and off—genes in order to make sure that they are Gene expression, expressed in the desired Cell (biology), cells at the right time and in the right amount throughout the life of the cell and the organism. Groups of TFs function in a coordinated fashion to direct cell division, cell growth, and cell death throughout life; cell migration and organization (body plan) during embryonic development; and intermittently in response to signals from outside the cell, such as a hormone. There are approximately 1600 TFs in the human genome. Transcription factors are members of the proteome as well as regulome. TFs work alone or with other proteins in a complex, by promoting (a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RAI1
RAI1 is a transcription factor associated with Smith–Magenis syndrome when individuals have deletions of the gene and Potocki–Lupski syndrome when individuals have a duplication. It is known as ''retinoic acid induced 1''. See also * Retinoic acid Retinoic acid (simplified nomenclature for all-''trans''-retinoic acid) is a metabolite of vitamin A1 (all-''trans''-retinol) that is required for embryonic development, male fertility, regulation of bone growth and immune function. All-''trans ... External links GeneReviews/NIH/NCBI/UW entry on Smith-Magenis Syndrome * {{biochem-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
