Upington disease Other names Perthes-like hip disease, Enchondromata, Ecchondromata , and Familial dyschondroplasia , [1] [2] Upington disease has an autosomal dominant pattern of inheritance. Specialty Rheumatology Upington disease , is an extremely rare [3] autosomal dominant malformation disorder . It has only one published source claiming its existence in three generations of one family from South Africa . [4] Contents 1 Presentation 2 Genetics 3 Management 4 Eponym 5 References 6 External links Presentation [ edit ] The disease is characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata . [ citation needed ] Genetics [ edit ] Upington disease is inherited in an autosomal dominant manner. [4] [5] This means the defective gene is located on an autosome , and one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder. [ citation needed ] Management [ edit ] This section is empty.
A rare primary bone dysplasia characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the literature since 1971.
The latter two conditions are, however, not mendelian. INHERITANCE - Autosomal dominant SKELETAL - Enchondromata (cartilaginous tumor growing from interior of bone) - Ecchondromata (cartilaginous tumor projecting under periosteum) - Arthralgias (hips, knees) Pelvis - Premature closure of the capital femoral epiphyses - Widened femoral necks - Flattened femoral heads MISCELLANEOUS - Onset at age 5 years - Majority of cases have bilateral involvement ▲ Close
Most of the implicated genes are transmitted in an autosomal dominant fashion. One genome-wide analysis associates otosclerosis with variation in RELN gene. [9] Loci include: Name OMIM Locus OTSC1 166800 15q26.1 OTSC2 605727 7q OTSC3 608244 6p OTSC4 611571 16q OTSC5 608787 3q22-q24 OTSC7 611572 6q13 OTSC8 612096 9p13.1-q21.11 Pathophysiology [ edit ] This section needs additional citations for verification . ... Treatment [ edit ] Further information: Hearing aids and Stapedectomy This article may need to be rewritten to comply with Wikipedia's quality standards , as section. You can help . The talk page may contain suggestions. ( February 2018 ) This section needs additional citations for verification .
Young et al. (1998) studied 8 medium to large multigenerational families with an autosomal dominant pattern of myopia of more than -6.00 diopters. ... Inheritance Myopia is a complex heterogeneous disorder; both genetic and environmental factors have been implicated (Young et al., 1998). Autosomal dominant myopia has been reported by Flach (1942), Franceschetti (1953), and Francois (1961). ... Mapping Young et al. (1998) conducted a genomewide screen for myopia susceptibility loci in 8 medium to large multigenerational families with an autosomal dominant pattern of myopia of more than -6.00 diopters. ... Eyes - Severe myopia - Detached retina Neuro - Superior intelligence Inheritance - Autosomal dominant form ▲ Close
Affected individuals with dementia should not be prescribed sleep-promoting medications (sedatives) for ISWD due to the increased prevalence of adverse effects in this group outweighing the possible benefits. [7] Circadian rhythm labeled Research [ edit ] There is currently a great deal of active research on various aspects of circadian rhythm; this often occurs at major universities in conjunction with sleep research clinics at major hospitals.
Specialty Medical genetics Fibrochondrogenesis is a rare [1] autosomal recessive [2] form of osteochondrodysplasia , [3] causing abnormal fibrous development of cartilage and related tissues . [4] It is a lethal rhizomelic (malformations which result in short, underdeveloped limbs) form of dwarfism , [1] exhibiting both skeletal dysplasia (malformations of bone ) and fibroblastic dysplasia (abnormal development of fibroblasts , specialized cells that make up fibrous connective tissue , which plays a role in the formation of cellular structure and promotes healing of damaged tissues ). [4] [5] [6] Death caused by complications of fibrochondrogenesis occurs in infancy . [6] Contents 1 Presentation 2 Cause 3 Genetics 4 Diagnosis 5 Treatment 6 Epidemiology 7 Research 8 See also 9 References 10 External links Presentation [ edit ] Fibrochondrogenesis is a congenital disorder presenting several features and radiological findings, some which distinguish it from other osteochondrodysplasias. [7] These include: fibroblastic dysplasia and fibrosis of chondrocytes (cells which form cartilage); [4] [5] and flared, widened long bone metaphyses (the portion of bone that grows during childhood). [6] [8] Other prominent features include dwarfism, [1] shortened ribs that have a concave appearance, [6] micrognathism (severely underdeveloped jaw ), [7] macrocephaly (enlarged head), [8] thoracic hypoplasia (underdeveloped chest), [8] enlarged stomach , [8] platyspondyly (flattened spine ), [6] and the somewhat uncommon deformity of bifid tongue (in which the tongue appears split, resembling that of a reptile ). [7] Cause [ edit ] The cause of platyspondyly in fibrochondrogenesis can be attributed in part to odd malformations and structural flaws found in the vertebral bodies of the spinal column in affected infants. [4] [6] Fibrochondrogenesis alters the normal function of chondrocytes, fibroblasts, metaphyseal cells and others associated with cartilage, bone and connective tissues . [2] [3] [4] Overwhelming disorganization of cellular processes involved in the formation of cartilage and bone ( ossification ), in combination with fibroblastic degeneration of these cells, developmental errors and systemic skeletal malformations describes the severity of this lethal osteochondrodysplasia. [3] [4] [6] [8] Genetics [ edit ] Fibrochondrogenesis is inherited in an autosomal recessive pattern. [4] This means that the defective gene responsible for the disorder is located on an autosome , and two copies of the gene — one copy inherited from each parent — are required in order to be born with the disorder.
In at least one case of fibrochondrogenesis caused by a COL11A2 gene mutation, the condition was inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder.
A large body of literature has demonstrated that such ΔFosB induction in D1-type [nucleus accumbens] neurons increases an animal's sensitivity to drug as well as natural rewards and promotes drug self-administration, presumably through a process of positive reinforcement ...
Treatment [ edit ] Anemia associated with Cameron lesions usually responds to oral iron medication, which may be needed for years. [1] Gastric acid suppression may promote lesion healing [18] and a proton-pump inhibitor such as omeprazole is often prescribed. [10] [11] [14] Surgical hernia repair is sometimes needed [1] [7] for indications such as refractory anemia requiring repeated blood transfusions, or anemia combined with other hernia symptoms.
The musculoskeletal system 's natural healing ability decreases pain and promotes TMJ stability. [6] Manual muscle or trigger-point therapy [ edit ] Manual trigger-point therapy , also known as manual muscle therapy , decreases and eliminates pain and tension in the trigger points by breaking up muscle knots and increasing blood flow.
In this case, desmopressin helps the kidneys to promote reabsorption of water. [4] Some doctors have reported success in treating psychogenic adipsic patients with electroconvulsive therapy , although the results are mixed and the reason for its success is still unknown. [8] Additionally, some patients who do not successfully complete behavioral therapy may require a nasogastric tube in order to maintain healthy levels of fluids. [8] See also [ edit ] Polydipsia - excessive thirst, the opposite of adipsia Thirst Osmoregulation References [ edit ] ^ "adipsia | pathology" .
The Circumcision Descendants Association of Nigeria (CDAN)—a group whose members perform FGM in Nigeria, has advocated to end the practice by creating new government programs and economic opportunities for those who perform female genital mutilation. [10] In 2018 an event organized by UN Women, the UN Population Fund (UNFPA) and the Nigerian Mission to the UN, with other partners to help promote change of perceptions for the women in Africa. [11] Highlighting themes such as human trafficking, suicide bombing, female genital mutilation/cutting and sexism and sexual harassment at the United Nations, [11] Ms.
For this reason, awareness and public health initiatives to promote minimizing the use of antibiotics for viral infections has become the focus. [1] Approximately 35% of childhood sore throats and 5-25% of adults sore throats are caused by a bacterial infection from group A streptococcus. [1] Sore throats that are "non-group A streptococcus" are assumed to be caused by a viral infection.
Infections causing a sore throat might result in other signs and symptoms, including: Fever Cough Runny nose Sneezing Body aches Headache Nausea or vomiting When to see a doctor Take your child to a doctor if your child's sore throat doesn't go away with the first drink in the morning, recommends the American Academy of Pediatrics.
In treatment-resistant polydipsic psychiatric patients, regulation in the inpatient setting can be accomplished by use of a weight-water protocol. [30] First, base-line weights must be established and correlated to serum sodium levels. ... External links [ edit ] Psychogenic Polydipsia (Excessive Fluid seeking Behaviour) by Donald "Don" Hutcheon on the APA's website Classification D ICD - 10 : R63.1 ICD - 9-CM : 783.5 MeSH : D059607 DiseasesDB : 10318 External resources MedlinePlus : 003085
When the alchemy was completed he said, "Although the gold elixir is now accomplished we ought first to test it by feeding it to a white dog. ... Wei and Yu later revived, rejoiced in their faith, took more of the elixir and became immortals (Needham and Ho 1970: 322). Elixir ingestion is first mentioned in the c. 81 BCE Discourses on Salt and Iron (Pregadio 2000: 166). ... In the 9th century Tang imperial order of succession , two father-son emperor pairs died from elixirs: first Xianzong (r. 805–820) and Muzong (r. 820–824), then Wuzong (r. 840–846) and Xuanzong (r. 847–859). ... Of old, as the Li Chi says, when the prince took physic, his minister tasted it first, and when a parent was sick, his son did likewise. ... The author and official Ye Mengde (1077–1148) described how two of his friends had died from elixirs of immortality in one decade. First, Lin Yanzhen, who boasted about his health and muscular strength, took an elixir for three years, "Whereupon ulcers developed in his chest, first near the hairs as large as rice-grains, then after a couple of days his neck swelled up so that chin and chest seemed continuous."
Adenoid cystic carcinoma (ACC) is a rare form of adenocarcinoma , a type of cancer that begins in glandular tissues. It most commonly arises in the major and minor salivary glands of the head and neck. It can also occur in the breast, uterus, or other locations in the body. Symptoms depend on the tumor's location. Salivary gland tumors may cause painless masses in the mouth or face. Tumors of the lacrimal gland may cause a bulging eye or changes in vision.
Find sources: "Spastic diplegia" – news · newspapers · books · scholar · JSTOR ( June 2009 ) ( Learn how and when to remove this template message ) Spastic diplegia Other names Little's disease Specialty Neurology Spastic diplegia , historically known as Little's disease , is a form of cerebral palsy (CP) that is a chronic neuromuscular condition of hypertonia and spasticity —manifested as an especially high and constant "tightness" or "stiffness"—in the muscles of the lower extremities of the human body, usually those of the legs , hips and pelvis . Doctor William John Little 's first recorded encounter with cerebral palsy is reported to have been among children who displayed signs of spastic diplegia. ... Above the hips, persons with spastic diplegia typically retain normal or near-normal muscle tone and range of motion , though some lesser spasticity may also affect the upper body, such as the trunk and arms, depending on the severity of the condition in the individual (the spasticity condition affecting the whole body equally, rather than just the legs, is spastic quadriplegia , a slightly different classification). ... An especially puzzling aspect of this lies in the fact that cerebral palsy as defined by modern science was first 'discovered' and specifically addressed well over 100 years ago and that it would therefore be reasonable to expect by now that at least some empirical data on the adult populations with these conditions would have long since been collected, especially over the second half of the 20th century when existing treatment technologies rapidly improved and new ones came into being.
Since a previous infant born of a different father was also reportedly affected, the authors suggested a maternally transmitted autosomal dominant trait that may involve a defect in the monocyte/glial cell population. INHERITANCE - Autosomal dominant GROWTH Other - Failure to thrive HEAD & NECK Head - Microcephaly - Brachycephaly Face - Sloping forehead - Dysmorphic facies Ears - Narrow ear lobes - Abnormal pinnae Eyes - Epicanthal folds CHEST Breasts - Inverted nipples GENITOURINARY External Genitalia (Male) - Micropenis Internal Genitalia (Male) - Cryptorchidism SKELETAL Hands - Brachydactyly - Tapering fingers Feet - Brachydactyly SKIN, NAILS, & HAIR Skin - Recurrent skin infections NEUROLOGIC Central Nervous System - Holoprosencephaly - Interhemispheric cysts - Agenesis of the corpus callosum - Mental retardation, severe IMMUNOLOGY - Recurrent infections - Monocytosis - Abnormally large monocytes with vacuoles - Monocytes show impaired motility LABORATORY ABNORMALITIES - Increased peripheral blood monocytes MISCELLANEOUS - Early death due to sepsis ▲ Close
Inheritance Despite the consanguinity in the family they reported, Megarbane et al. (2003) concluded that the disorder might represent a new autosomal dominant branchiogenic-deafness syndrome because of the variable expressivity on the father's side of the family. INHERITANCE - Autosomal dominant GROWTH Height - Short stature HEAD & NECK Ears - Conductive hearing loss - Sensorineural hearing loss - Mixed hearing loss - Preauricular pits - Preauricular tags - External auditory canal atresia - Malformed ossicles - Internal auditory canal hypoplasia Eyes - Strabismus Mouth - Submucosal cleft palate - Trismus Neck - Branchial cleft cysts - Branchial cleft fistulae SKELETAL Hands - Short distal phalanx (5th finger) - Pointed phalanx (5th finger) - Bony erosions (5th finger) Feet - Short distal phalanges (toes 2-4) ▲ Close
Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.
Three unaffected family members had affected offspring, suggesting autosomal dominant inheritance with incomplete penetrance. Mapping By genomewide linkage analysis of a 4-generation family, Hedera et al. (2007) identified a 7-cM candidate region on chromosome 4q13.2-q21.3 between markers D4S3018 and D4S2627 (maximum multipoint lod score of 5.05 at D4S1517). INHERITANCE - Autosomal dominant NEUROLOGIC Central Nervous System - Simple partial seizures - Complex partial seizures - Deja vu feeling - Dizziness - Rare secondary generalization - EEG is usually normal - No hippocampal sclerosis MISCELLANEOUS - Onset usually in second decade - Relatively benign course - Genetic heterogeneity (see ETL2, 608096 ) ▲ Close
Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication.
The pattern of inheritance was considered to be autosomal dominant although there was no instance of male-to-male transmission. ... Misc - Clinically normal Lab - Increased insulin binding capacity - Increased number of insulin receptors Inheritance - Autosomal dominant ▲ Close
