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18p- Syndrome
18p- is a genetic condition caused by a deletion of all or part of the short arm (the p arm) of chromosome 18. It occurs in about 1 of every 50,000 births. Signs and symptoms 18p- causes a wide range of medical and developmental concerns. There is significant variation in severity. This variation is due to the variability of the deletion size and breakpoints. Congenital anomalies About 10–15% of individuals with 18p- have holoprosencephaly. Approximately 10% of people with 18p- have a congenital heart anomaly. There does not appear to be a specific type of heart defect associated with a deletion of the short arm of chromosome 18. Septal defects, tetralogy of Fallot, dextrocardia, and coarctation of the aorta have all been reported in infants with 18p-. Neurologic Hypotonia is frequently seen in the 18p- population. Seizures, though uncommon, have been reported in people with 18p-. Dystonia has also been diagnosed in a small minority of young adults with 18p-. Also ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch tics 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 specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice o ... [...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. This results in distorted or blurred vision at any distance. Other symptoms can include eyestrain, headaches, and trouble driving at night. Astigmatism often occurs at birth and 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; however, it is believed to be partly related to genetic factors. The underlying mechanism involves an irregular curvature of the cornea and protective reaction changes in the lens of the eye, called lens astigmatism, that has the same mechanism as spasm of accomodation. Diagnosis is by an eye examination called autorefractor keratometry (objective, allows to see lens and cornea components of astigmatism) and subjective refraction, but subjective methods are almost always inaccurate, if lens astigmatism is not fully removed first with a week of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Scoliosis
Scoliosis is a condition in which a person's spine has a sideways curve. The curve is usually "S"- or "C"-shaped over three dimensions. In some, the degree of curve is stable, while in others, it increases over time. Mild scoliosis does not typically cause problems, but more severe cases can affect breathing and movement. Pain is usually present in adults, and can worsen with age. The cause of most cases is unknown, but it is believed to involve a combination of genetic and environmental factors. Risk factors include other affected family members. It can also occur due to another condition such as muscle spasms, cerebral palsy, Marfan syndrome, and tumors such as neurofibromatosis. Diagnosis is confirmed with X-rays. Scoliosis is typically classified as either structural in which the curve is fixed, or functional in which the underlying spine is normal. Treatment depends on the degree of curve, location, and cause. Minor curves may simply be watched periodically. Trea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Clubfoot
Clubfoot is a birth defect where one or both feet are rotated inward and downward. Congenital clubfoot is the most common congenital malformation of the foot with an incidence of 1 per 1000 births. In approximately 50% of cases, clubfoot affects both feet, but it can present unilaterally causing one leg or foot to be shorter than the other. Most of the time, it is not associated with other problems. Without appropriate treatment, the foot deformity will persist and lead to pain and impaired ability to walk, which can have a dramatic impact on the quality of life. The exact cause is usually not identified. Both genetic and environmental factors are believed to be involved. There are two main types of congenital clubfoot: idiopathic (80% of cases) and secondary clubfoot (20% of cases). The idiopathic congenital clubfoot is a multifactorial condition that includes environmental, vascular, positional, and genetic factors. There appears to be hereditary component for this birth d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pes Planus
Flat feet (also called pes planus or fallen arches) is a postural deformity in which the arches of the foot collapse, with the entire sole of the foot coming into complete or near-complete contact with the ground. Sometimes children are born with flat feet (congenital). There is a functional relationship between the structure of the arch of the foot and the biomechanics of the lower leg. The arch provides an elastic, springy connection between the forefoot and the hind foot so that a majority of the forces incurred during weight bearing on the foot can be dissipated before the force reaches the long bones of the leg and thigh. In pes planus, the head of the talus bone is displaced medially and distal from the navicular bone. As a result, the Plantar calcaneonavicular ligament (spring ligament) and the tendon of the tibialis posterior muscle are stretched to the extent that the individual with pes planus loses the function of the medial longitudinal arch (MLA). If the MLA i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cryptorchidism
Cryptorchidism, also known as undescended testis, is the failure of one or both testes to descend into the scrotum. The word is from Greek () 'hidden' and () 'testicle'. It is the most common birth defect of the male genital tract. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism may develop after infancy, sometimes as late as young adulthood, but that is exceptional. Cryptorchidism is distinct from monorchism, the condition of having only one testicle. Though the condition may occur on one or both sides, it more commonly affects the right testis. A testis absent from the normal scrotal position may be: # Anywhere along the "path of descent" from high in the posterior (retroperitoneal) abdomen, just below the kidney, to the inguinal ring ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Malrotation Of Colon
Intestinal malrotation is a congenital anomaly of rotation of the midgut. It occurs during the first trimester as the fetal gut undergoes a complex series of growth and development. Malrotation can lead to a dangerous complication called volvulus. Malrotation can refer to a spectrum of abnormal intestinal positioning, often including: * The small intestine found predominantly on the right side of the abdomen * The cecum displaced from its usual position in the right lower quadrant into the epigastrium or right hypochondrium * An absent or displaced ligament of Treitz * Fibrous peritoneal bands called bands of Ladd running across the vertical portion of the duodenum * An unusually narrow, stalk-like mesentery The position of the intestines, narrow mesentery and Ladd's bands can contribute to several severe gastrointestinal conditions. The narrow mesentery predisposes some cases of malrotation to midgut volvulus, a twisting of the entire small bowel that can obstruct the mesenteric b ... [...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 he ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Constipation
Constipation is a bowel dysfunction that makes bowel movements infrequent or hard to pass. The 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, colon cancer, diverticulitis, and inflammatory bowel disease. Medications associated with constipation include opioids, certain antacids, calcium channel b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Otitis Media
Otitis media is a group of inflammatory diseases of the middle ear. One of the two main types is acute otitis media (AOM), an infection of rapid onset that usually presents with ear pain. In young children this may result in pulling at the ear, increased crying, and poor sleep. Decreased eating and a fever may also be present. The other main type is otitis media with effusion (OME), typically not associated with symptoms, although occasionally a feeling of fullness is described; it is defined as the presence of non-infectious fluid in the middle ear which may persist for weeks or months often after an episode of acute otitis media. Chronic suppurative otitis media (CSOM) is middle ear inflammation that results in a perforated tympanic membrane with discharge from the ear for more than six weeks. It may be a complication of acute otitis media. Pain is rarely present. All three types of otitis media may be associated with hearing loss. If children with hearing loss due to OME do ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Conductive Hearing Loss
Conductive hearing loss (CHL) occurs when there is a problem transferring sound waves anywhere along the pathway through the outer ear, tympanic membrane (eardrum), or middle ear ( ossicles). If a conductive hearing loss occurs in conjunction with a sensorineural hearing loss, it is referred to as a mixed hearing loss. Depending upon the severity and nature of the conductive loss, this type of hearing impairment can often be treated with surgical intervention or pharmaceuticals to partially or, in some cases, fully restore hearing acuity to within normal range. However, cases of permanent or chronic conductive hearing loss may require other treatment modalities such as hearing aid devices to improve detection of sound and speech perception. Causes Common causes of conductive hearing loss include: External ear * Cerumen (earwax) or foreign body in the external auditory canal * Otitis externa, infection or irritation of the outer ear * Exostoses, abnormal growth of bone ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PE Tubes
Tympanostomy tube, also known as a grommet or myringotomy tube, is a small tube inserted into the eardrum in order to keep the middle ear aerated for a prolonged period of time, and to prevent the accumulation of fluid in the middle ear. The operation to insert the tube involves a myringotomy and is performed under local or general anesthesia. The tube itself is made in a variety of designs. The most commonly used type is shaped like a grommet. When it is necessary to keep the middle ear ventilated for a very long period, a "T"-shaped tube may be used, as these "T-tubes" can stay in place for 2–4 years. Materials used to construct the tube are most often plastics such as silicone or Teflon. Stainless steel tubes exist, but are no longer in frequent use. Medical uses Inserting grommets is a common surgical procedure for treating children around the world. Grommets are most commonly used to help improve hearing for children who have a condition commonly called "glue ear" ( ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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