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18q Deletion Syndrome
Distal 18q- is a genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18. The deletion involves the distal section of 18q and typically extends to the tip of the long arm of chromosome 18. Presentation Distal 18q- causes a wide range of medical and developmental concerns, with significant variation in severity due to the variation in breakpoints reported in individuals with distal 18q-. Current research is focused on establishing genotype-phenotype correlations to enable predictive genotyping. Congenital anomalies Heart abnormalities are present in 25–35% of people with distal 18q-. The majority of these defects are septal. Congenital orthopedic anomalies are also relatively common, particularly rocker-bottom feet or clubfoot. Cleft lip and palate are relatively common in people with distal 18q-. Kidney abnormalities have also been reported and include horseshoe kidney, hydronephrosis, polycystic kidney, and absent kidney ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Condition
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known genet ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Strabismus
Strabismus is a vision disorder in which the eyes do not properly align with each other when looking at an object. The eye that is focused on 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 double vision. Strabismus can occur due to muscle dysfunction, 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 (incomitant). Diagnosis may be made by obser ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypospadias
Hypospadias is a common variation in fetal development of the penis in which the urethra does not open from its usual location in the head of the penis. It is the second-most common birth abnormality of the male reproductive system, affecting about one of every 250 males at birth. Roughly 90% of cases are the less serious distal hypospadias, in which the urethral opening (the meatus) is on or near the head of the penis (glans). The remainder have proximal hypospadias, in which the meatus is all the way back on the shaft of the penis, near or within the scrotum. Shiny tissue that should have made the urethra extends from the meatus to the tip of the glans; this tissue is called the urethral plate. In most cases, the foreskin is less developed and does not wrap completely around the penis, leaving the underside of the glans uncovered. Also, a downward bending of the penis, commonly referred to as chordee, may occur. Chordee is found in 10% of distal hypospadias and 50% of proximal h ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hernias
A hernia is the abnormal exit of tissue or an organ, such as the bowel, through the wall of the cavity in which it normally resides. Various types of hernias can occur, most commonly involving the abdomen, and specifically the groin. Groin hernias are most commonly of the inguinal type but may also be femoral. Other types of hernias include hiatus, incisional, and umbilical hernias. Symptoms are present in about 66% of people with groin hernias. This may include pain or discomfort in the lower abdomen, especially with coughing, exercise, or urinating or defecating. Often, it gets worse throughout the day and improves when lying down. A bulge may appear at the site of hernia, that becomes larger when bending down. Groin hernias occur more often on the right than left side. The main concern is bowel strangulation, where the blood supply to part of the bowel is blocked. This usually produces severe pain and tenderness in the area. Hiatus, or hiatal hernias often result in heartbu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gastroesophageal Reflux Disease
Gastroesophageal reflux disease (GERD) or gastro-oesophageal reflux disease (GORD) is one of the upper gastrointestinal chronic diseases where 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. On 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 the esoph ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hearing Loss
Hearing loss is a partial or total inability to Hearing, hear. Hearing loss may be present at birth or acquired at any time afterwards. Hearing loss may occur in one or both ears. In children, hearing problems can affect the ability to Language acquisition, acquire spoken language, and in adults it can create difficulties with social interaction and at work. Hearing loss can be temporary or permanent. Presbycusis, Hearing loss related to age usually affects both ears and is due to cochlear hair cell loss. In some people, particularly older people, hearing loss can result in loneliness. Deafness, Deaf people usually have little to no hearing. Hearing loss may be caused by a number of factors, including: genetics, ageing, Noise-induced hearing loss, exposure to noise, some infections, birth complications, trauma to the ear, and certain medications or toxins. A common condition that results in hearing loss is chronic ear infections. Certain infections during pregnancy, such as cyt ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Stenosis
A stenosis (from Ancient Greek στενός, "narrow") is an abnormal narrowing in a blood vessel or other tubular organ or structure such as foramina and canals. It is also sometimes called a stricture (as in urethral stricture). ''Stricture'' as a term is usually used when narrowing is caused by contraction of smooth muscle (e.g. achalasia, prinzmetal angina); ''stenosis'' is usually used when narrowing is caused by lesion that reduces the space of lumen (e.g. atherosclerosis). The term coarctation is another synonym, but is commonly used only in the context of aortic coarctation. Restenosis is the recurrence of stenosis after a procedure. Types The resulting syndrome depends on the structure affected. Examples of vascular stenotic lesions include: * Intermittent claudication (peripheral artery stenosis) * Angina ( coronary artery stenosis) * Carotid artery stenosis which predispose to (strokes and transient ischaemic episodes) * Renal artery stenosis The types of sten ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Antibiotics
An antibiotic is a type of antimicrobial substance active against bacteria. It is the most important type of antibacterial agent for fighting bacterial infections, and antibiotic medications are widely used in the treatment and prevention of such infections. They may either kill or inhibit the growth of bacteria. A limited number of antibiotics also possess antiprotozoal activity. Antibiotics are not effective against viruses such as the common cold or influenza; drugs which inhibit viruses are termed antiviral drugs or antivirals rather than antibiotics. Sometimes, the term ''antibiotic''—literally "opposing life", from the Greek roots ἀντι ''anti'', "against" and βίος ''bios'', "life"—is broadly used to refer to any substance used against microbes, but in the usual medical usage, antibiotics (such as penicillin) are those produced naturally (by one microorganism fighting another), whereas non-antibiotic antibacterials (such as sulfonamides and antisep ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sinus Infections
Sinusitis, also known as rhinosinusitis, is inflammation of the mucous membranes that line the sinuses resulting in symptoms that may include thick nasal mucus, a plugged nose, and facial pain. Other signs and symptoms may include fever, headaches, a poor sense of smell, sore throat, a feeling that phlegm is oozing out from the back of the nose to the throat along with a necessity to clear the throat frequently and frequent attacks of cough. Generally sinusitis starts off as a common viral infection like common cold. This infection generally subsides within 5 to 7 days. During this time the nasal structures can swell and facilitate the stagnation of fluids in sinuses that leads to acute sinusitis which lasts from 6th day of the infection to 15th day. From the 15th day to 45th day of the infection comes the subacute stage followed by chronic stage. Whenever a chronic stage patient's immunity takes a hit the infection moves to "acute on sinusitis" stage and moves back to chroni ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ear Infection
Otitis is a general term for inflammation or infection, inner ear infection, middle ear infection of the ear, in both humans and other animals. When infection is present, it may be viral or bacterial. When inflammation is present due to fluid build up in the middle ear and infection is not present it is considereOtitis media with effusion It is subdivided into the following: * ''Otitis externa'', external otitis, or "swimmer's ear", involves the outer ear and ear canal. In external otitis, we see tenderness in the pinna—i.e., the outer ear hurts when touched or pulled. * ''Otitis media'', or middle ear infection, involves the middle ear. In otitis media, the ear is infected or clogged with fluid behind the ear drum, in the normally air-filled middle-ear space. This is the most common infection and very common in babies below 6 months. This condition sometimes requires a surgical procedure called ''myringotomy'' and tube insertion. * ''Otitis interna'', or labyrinthitis, involv ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Middle Ear
The middle ear is the portion of the ear medial to the eardrum, and distal to the oval window of the cochlea (of the inner ear). The mammalian middle ear contains three ossicles, which transfer the vibrations of the eardrum into waves in the fluid and membranes of the inner ear. The hollow space of the middle ear is also known as the tympanic cavity and is surrounded by the tympanic part of the temporal bone. The auditory tube (also known as the Eustachian tube or the pharyngotympanic tube) joins the tympanic cavity with the nasal cavity (nasopharynx), allowing pressure to equalize between the middle ear and throat. The primary function of the middle ear is to efficiently transfer acoustic energy from compression waves in air to fluid–membrane waves within the cochlea. Structure Ossicles The middle ear contains three tiny bones known as the ossicles: '' malleus'', '' incus'', and ''stapes''. The ossicles were given their Latin names for their distinctive shapes; they ar ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myopia
Near-sightedness, also known as myopia and short-sightedness, is an eye disease where light 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 near-sightedness is associated with an increased risk of retinal detachment, cataracts, and glaucoma. The underlying mechanism involves 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 eye examination. Tentative evidence indicates that the risk of near-sightedness can be decreased by having young children spend more time outside. This decrease in risk may be related to natural light exposure. Near-sightedness can be corrected with eyeglasses, contact lenses, or a refractive surgery. Eyeglasses are the easiest and safest method of correction. Contact lenses can provide a wider field of vision, but are associated with ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
