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DeSanto-Shinawi Syndrome
DeSanto-Shinawi (DESSH) syndrome is a rare genetic disorder caused by genetic variations (mutations) in a gene called WW Domain-Containing Adaptor with Coiled-coil Region (the WAC gene). The condition was first described in 2015 in six individuals. The prevalence of DESSH syndrome is unknown at this time, but 25 individuals have been so far described in the medical literature. However, many other individuals with this condition are being studied and characterized. With the increasing utilization of exome and whole genome sequencing, it is anticipated that many more individuals will be identified. The condition is characterized by a variable degree of developmental delay and intellectual disability, decreased muscle tone (hypotonia), behavioral abnormalities, some facial differences and gastrointestinal and eye abnormalities. Signs and symptoms Individuals with DESSH syndrome present in infancy with nonspecific feeding and gastrointestinal problems, such as constipation, feed ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurology
Neurology (from , "string, nerve" and the suffix wikt:-logia, -logia, "study of") is the branch of specialty (medicine) , medicine dealing with the diagnosis and treatment of all categories of conditions and disease involving the nervous system, which comprises the Human brain, brain, the spinal cord and the peripheral nervous system , peripheral nerves. Neurological practice relies heavily on the field of neuroscience, the scientific study of the nervous system, using various techniques of neurotherapy. IEEE Brain (2019). "Neurotherapy: Treating Disorders by Retraining the Brain". ''The Future Neural Therapeutics White Paper''. Retrieved 23.01.2025 from: https://brain.ieee.org/topics/neurotherapy-treating-disorders-by-retraining-the-brain/#:~:text=Neurotherapy%20trains%20a%20patient's%20brain,wave%20activity%20through%20positive%20reinforcement International Neuromodulation Society, Retrieved 23 January 2025 from: https://www.neuromodulation.com/ Val Danilov I (2023). "The O ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Constipation
Constipation is a bowel dysfunction that makes bowel movements infrequent or hard to pass. The Human feces, stool is often hard and dry. Other symptoms may include abdominal pain, bloating, and feeling as if one has not completely passed the bowel movement. Complications from constipation may include hemorrhoids, anal fissure or fecal impaction. The normal frequency of bowel movements in adults is between three per day and three per week. Babies often have three to four bowel movements per day while young children typically have two to three per day. Constipation has many causes. Common causes include slow movement of stool within the colon, irritable bowel syndrome, and pelvic floor disorders. Underlying associated diseases include hypothyroidism, diabetes, Parkinson's disease, celiac disease, non-celiac gluten sensitivity, Vitamin B12 deficiency, vitamin B12 deficiency, colon cancer, diverticulitis, and inflammatory bowel disease. Medications associated with constipation in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nasal Bridge
The nasal bridge is the upper part of the nose, where the nasal bones and surrounding soft tissues provide structural support. While commonly discussed in human anatomy, nasal bridges exist in various forms across many vertebrates, particularly mammals. The shape, size, and function of the nasal bridge are influenced by evolutionary adaptations, playing a key role in Respiration (physiology), respiration, sense of smell, and thermoregulation. Anatomy Humans In humans, the nasal bridge is the elevated region of the human nose, nose between the eyes. It is primarily formed by the two small, oblong nasal bones, which meet at the midline to form the internasal suture. The nasal bridge extends from the nasal root, where the nose meets the forehead, to the lower edge of the nasal bones. Laterally, it reaches the inner canthi, the medial corners of the eyes, creating a saddle-shaped contour across the upper nose. The height and shape of the nasal bridge vary among individuals and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autism Spectrum
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 cr ... [...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 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] |
Language Acquisition
Language acquisition is the process by which humans acquire the capacity to perceive and comprehend language. In other words, it is how human beings gain the ability to be aware of language, to understand it, and to produce and use words and sentence (linguistics), sentences to communicate. Language acquisition involves structures, rules, and representation. The capacity to successfully use language requires human beings to acquire a range of tools, including phonology, morphology (linguistics), morphology, syntax, semantics, and an extensive vocabulary. Language can be vocalized as in speech, or manual as in sign language, sign. Human language capacity is language processing in the brain, represented in the brain. Even though human language capacity is finite, one can say and understand an infinite number of sentences, which is based on a syntactic principle called recursion. Evidence suggests that every individual has three recursive Mechanisms of mindfulness meditation, mech ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Respiratory Tract Infection
Respiratory tract infections (RTIs) are infectious diseases involving the lower or upper respiratory tract. An infection of this type usually is further classified as an upper respiratory tract infection (URI or URTI) or a lower respiratory tract infection (LRI or LRTI). Lower respiratory infections, such as pneumonia, tend to be far more severe than upper respiratory infections, such as the common cold. Types Upper respiratory tract infection The upper respiratory tract is considered the airway above the glottis or vocal cords; sometimes, it is taken as the tract above the cricoid cartilage. This part of the tract includes the nose, sinuses, pharynx, and larynx. Typical infections of the upper respiratory tract include tonsillitis, pharyngitis, laryngitis, sinusitis, otitis media, certain influenza types, and the common cold. Symptoms of URIs can include cough, sore throat, runny nose, nasal congestion, headache, low-grade fever, facial pressure, and sneezing. Lower respira ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Astigmatism
Astigmatism is a type of refractive error due to rotational asymmetry in the eye's refractive power. The lens and cornea of an eye without astigmatism are nearly spherical, with only a single radius of curvature, and any refractive errors present can be corrected with simple glasses. In an eye with astigmatism, either the lens or the cornea is slightly egg-shaped, with higher curvature in one direction than the other. This gives distorted or blurred vision at any distance and requires corrective lenses that apply different optical powers at different rotational angles. Astigmatism can lead to symptoms that include eyestrain, headaches, and trouble driving at night. Astigmatism often is present at birth, but can change or develop later in life. If it occurs in early life and is left untreated, it may result in amblyopia. The cause of astigmatism is unclear, although it is believed to be partly related to genetic factors. The underlying mechanism involves an irregular c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Near-sightedness
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 blurred vision, 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 (anatomy), lens being too strong. It is a type of refractive error. Diagnosis is by the use of Cycloplegic refraction, 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 Daylighting (architecture), natural light exposure. Myopia can be corrected with eyeglasses, contact lenses, or by refractive surgery. Eyeglasses are th ... [...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] |
Gastroesophageal Reflux Disease
Gastroesophageal reflux disease (GERD) or gastro-oesophageal reflux disease (GORD) is a chronic upper gastrointestinal disease in which stomach content persistently and regularly flows up into the esophagus, resulting in symptoms and/or complications. Symptoms include dental corrosion, dysphagia, heartburn, odynophagia, regurgitation, non-cardiac chest pain, extraesophageal symptoms such as chronic cough, hoarseness, reflux-induced laryngitis, or asthma. In the long term, and when not treated, complications such as esophagitis, esophageal stricture, and Barrett's esophagus may arise. Risk factors include obesity, pregnancy, smoking, hiatal hernia, and taking certain medications. Medications that may cause or worsen the disease include benzodiazepines, calcium channel blockers, tricyclic antidepressants, NSAIDs, and certain asthma medicines. Acid reflux is due to poor closure of the lower esophageal sphincter, which is at the junction between the stomach and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
