For the treatment of hyperhidrosis , anticholinergic agents such as trihexyphenidyl or scopolamine can be used, also intracutaneous injection of botulinum toxin type A can be used for management in some cases. [27] Balloon angioplasty , a procedure referred to as transvascular autonomic modulation , is specifically not approved for the treatment of autonomic dysfunction. [28] Prognosis [ edit ] The prognosis of dysautonomia depends on several factors; individuals with chronic, progressive, generalized dysautonomia in the setting of central nervous system degeneration such as Parkinson's disease or multiple system atrophy have a generally poorer long-term prognosis.
This article is about a category of neorological conditions. For the neurological condition called Pure Autonomic Failure (PAF), see Pure autonomic failure . Primary autonomic failure (also called primary dysautonomia ) refers to a category of dysautonomias — conditions in which the autonomic nervous system does not function properly. In primary dysautonomias, the autonomic dysfunction occurs as a primary condition (as opposed to resulting from another disease). [1] Autonomic failure is categorized as "primary" when believed to result from a chronic condition characterized by degeneration of the autonomic nervous system, or where autonomic failure is the predominant symptom and its cause is unknown. Such "primary" dysautonomias are distinguished from secondary dysautonomias, where the dysfunction of the autonomic nervous system is believed to be caused by another disease (e.g. diabetes). [2] Diseases categorized as primary autonomic failure usually include pure autonomic failure and multiple system atrophy . Many scientists also categorize Parkinson disease and familial dysautonomia as "primary".
Fluids are the preferred choice of therapy. [28] History [ edit ] In cases where loss of blood volume is clearly attributable to bleeding (as opposed to, e.g., dehydration), most medical practitioners prefer the term exsanguination for its greater specificity and descriptiveness, with the effect that the latter term is now more common in the relevant context. [29] See also [ edit ] Hypervolemia Non-pneumatic anti-shock garment Polycythemia , an increase of the hematocrit level, with the "relative polycythemia" being a decrease in the volume of plasma Volume status References [ edit ] ^ McGee S (2018).
"Posterior Tibial Tendon Transfer: Results of Fixation to the Dorsiflexors Proximal to the Ankle Joint". Foot & Ankle International . 28 (11): 1128–42. doi : 10.3113/FAI.2007.1128 .
Modern treatment technologies including fractionated 3-D conformal radiotherapy, [28] intensity modulated radiation therapy, and recently proton therapy are able to precisely cover the target while preserving surrounding tissue, Tumor controls in excess of 90% can be achieved.
Craniopharyngioma is a slow-growing, non-cancerous brain tumor that develops near the pituitary gland (a small endocrine gland at the base of the brain which produces several important hormones) and the hypothalamus (an endocrine organ which controls the release of hormones by the pituitary gland). This tumor most commonly affects children between 5 and 10 years of age; however, adults can sometimes be affected. Although craniopharyngiomas are not cancerous, they may grow and press on nearby parts of the brain, causing symptoms including hormonal changes, vision changes, slow growth, headaches, nausea and vomiting, loss of balance, hearing loss, and changes in mood or behavior. The cause of these tumors is not well understood; however, researchers suspect that they begin to form during the early stages of embryo development in pregnancy (embryogenesis) and may result from metaplasia (abnormal transformation of cells). Treatment for craniopharyngioma varies and may involve surgery to remove the tumor, radiation therapy, chemotherapy, biologic therapy , and/or hormone therapy to replace various hormones no longer produced or secreted due to the tumor or its treatment.
Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system. Epidemiology The point prevalence of this tumour is approximately 1/50,000. Clinical description The onset of symptoms is normally insidious with most patients at diagnosis having neurological (headaches, visual disturbances) and endocrine (growth retardation, delayed puberty) dysfunction. Etiology Craniopharyngiomas are thought to arise from epithelial remnants of the craniopharyngeal duct or Rathke's pouch (adamantinomatous type tumours) or from metaplasia of squamous epithelial cell rests that are remnants of the part of the stomadeum that contributed to the buccal mucosa (squamous papillary type tumours). Diagnostic methods The neuroradiological diagnosis is mainly based on the three components of the tumour (cystic, solid and calcified) in the characteristic sellar/parasellar location.
Within 2 years, up to 25% of patients will have significant negative symptoms. [27] Psychotic symptoms tend to diminish as the individuals age, but negative symptoms tend to persist. [28] Prominent negative symptoms at disease onset, including alogia, are good predictors of worse outcomes. [27] [29] Negative symptoms can arise in the presence of other psychiatric symptoms.
Overview Aphasia is a disorder that affects how you communicate. It can impact your speech, as well as the way you write and understand both spoken and written language. Aphasia usually happens suddenly after a stroke or a head injury. But it can also come on gradually from a slow-growing brain tumor or a disease that causes progressive, permanent damage (degenerative). The severity of aphasia depends on a number of things, including the cause and the extent of the brain damage. The main treatment for aphasia involves treating the condition that causes it, as well as speech and language therapy. The person with aphasia relearns and practices language skills and learns to use other ways to communicate.
The study further indicates soap is more effective and should be preferred if available. [27] Prevention [ edit ] A rarely cited double-blind study in 1982 reported that a course of oral urushiol usually hyposensitized subjects. [28] See also [ edit ] Wikimedia Commons has media related to Urushiol-induced contact dermatitis .
Genetic and Rare Diseases Information Center (GARD) – an NCATS Program . 2016. Archived from the original on 28 January 2017 . Retrieved 29 October 2017 . ^ a b c d e "Cleidocranial Dysplasia" .
Affected individuals are more likely to have other bone-related problems: Pes planus (flat feet) in 57% Genu valgum (knock-knee deformity) in 28% Scoliosis in 18% [Cooper et al 2001] Osteoporosis, found in 8/14 (57.1%) affected individuals; and osteopenia, identified in 3/14 (21.4%) individuals with CCD spectrum disorder [Dinçsoy Bir et al 2017] Other less common orthopedic problems include joint dislocation at the shoulder and elbow [El-Gharbawy et al 2010].
Cleidocranial dysplasia is a condition that primarily affects development of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family. Individuals with cleidocranial dysplasia usually have underdeveloped or absent collarbones, also called clavicles ("cleido-" in the condition name refers to these bones). As a result, their shoulders are narrow and sloping, can be brought unusually close together in front of the body, and in some cases can be made to meet in the middle of the body. Delayed maturation of the skull (cranium) is also characteristic of this condition, including delayed closing of the growth lines where the bones of the skull meet (sutures) and larger than normal spaces (fontanelles) between the skull bones that are noticeable as "soft spots" on the heads of infants.
Cleidocranial dysplasia (CCD) affects the development of the bones, skull, and teeth. Signs and symptoms include underdeveloped or absent collarbones (clavicles), dental abnormalities, and delayed closing of the spaces between the skull bones (fontanels). Other symptoms may include decreased bone density (osteopenia), hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. People with CCD may develop curvature of the spine (scoliosis), osteoporosis, and may be shorter than average. CCD occurs due to a RUNX2 gene that is not working correctly and is inherited in an autosomal dominant pattern.
A number sign (#) is used with this entry because of evidence that cleidocranial dysplasia (CCD) is caused by heterozygous loss-of-function mutation in the RUNX2 gene (600211), encoding transcription factor CBFA1, on chromosome 6p21. Heterozygous duplication in RUNX2 resulting in a gain of function causes metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly (MDMHB; 156510). Description The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation. See 168550 for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis (265800) and mandibuloacral dysplasia (248370) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia.
Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities. Epidemiology The prevalence of CCD is 1/1,000,000, with higher rates in groups with a founder effect. The disorder is found in many ethnic groups and no sex predilection has been reported. It may be underdiagnosed because of the number of relatively mild cases. Clinical description There is an extremely wide range of clinical manifestations (even within the same family) from isolated dental anomalies to severe malformations with functional repercussions.
Goodman et al. (1975) described 2 families in which offspring of unaffected consanguineous parents had a particularly severe form of cleidocranial dysplasia. Spinal anomalies were present and the affected persons were dwarfed. HEENT - Brachycephaly Growth - Dwarfism Inheritance - Severe autosomal recessive form, usually dominant Skel - Aplasia of clavicles - Spinal anomalies ▲ Close
The simplex type was added by Eugen Bleuler to the earlier ones identified by Kraepelin in 1899 and subsequently given a basic outline in 1903 by Otto Diem publishing a monograph on dementia praecox in the simple dementing form. [26] [27] This was based on a survey of two males having had a relatively normal childhood but who then fell into patterns of living tending towards vagrancy . [16] A description of a cerebral disorder in relation to organic factors and in the context of general paralysis of the insane only; with no reference to schizophrenia, shows a disorder with features of generalized dementia (Lishman 1998). [8] In 1951, a film was made showing the clinical characteristics of simple-type schizophrenia. [28] Controversy [ edit ] Definition of this type of schizophrenia is without unity or is controversial. [29] The diagnosis was discontinued in the DSM system, although it was recommended for reinclusion. [30] It was subsequently confirmed as having imprecise diagnostic criteria based on collective descriptions lacking in agreement . [31] However, in an experiment with a small sample size, five patients with a diagnosis of simple deteriorative disorder (DSM-IV) were found to have grey matter deficits, atrophy and reduced cerebral perfusion in the frontal areas . [32] Whitwell et al . found justification to retain the classification on the basis of fulfillment of "dimensional" considerations of classification, as opposed to criticisms resulting from disagreement in considerations of classification using orientation from other categories. [33] References [ edit ] ^ World Health Organization (1993) – The ICD-10 Classification of Mental and Behavioural Disorders .
In addition, females seem to be affected slightly more often than males. [10] Notable cases [ edit ] Ancient [ edit ] A case of a child in Switzerland was discovered in a necropolis dated between 4500 and 4000 BC. [23] In 2009, archaeologists excavating at a Neolithic site of the Đa Bút culture of northern Vietnam discovered the remains of a young man around age 25, "Burial 9", living between 2000 BC and 1500 BC with Klippel–Feil syndrome, who had apparently been supported by his subsistence-level community for at least a decade before his death. [24] [25] [26] The 18th Dynasty Egyptian pharaoh Tutankhamun is believed by some to have suffered from Klippel–Feil syndrome, [27] though others dispute this claim. [28] Contemporary [ edit ] English cricketer Gladstone Small [29] "Big" Ed Brown from the TLC series, 90 Day Fiancé .
A number sign (#) is used with this entry because of evidence that Klippel-Feil syndrome-2 (KFS2) is caused by homozygous mutation in the MEOX1 gene (600147) on chromosome 17q21. Description Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). Clarke et al. (1998) proposed a classification system for KFS in which an autosomal recessive form is characterized by the most rostral fusion at C1 and the presence of severe associated anomalies, including short neck, cardiac defects, and craniofacial anomalies. For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100).
A number sign (#) is used with this entry because Klippel-Feil syndrome-1 is caused by heterozygous mutation in the GDF6 gene (601147) on chromosome 8q22. Description Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). Genetic Heterogeneity of Klippel-Feil Syndrome Additional forms of KFS include autosomal recessive KFS2 (214300), caused by mutation in the MEOX1 gene (600147) on chromosome 17q21, autosomal dominant KFS3 (613702), caused by mutation in the GDF3 gene (606522) on chromosome 12p13, and autosomal recessive KFS4 (616549), caused by mutation in the MYO18B gene (607295) on chromosome 22q12. See also MURCS association (601076), in which Klippel-Feil anomaly is associated with urogenital anomalies.
Klippel Feil syndrome (KFS) is a condition affecting the development of the bones in the spine. People with KFS are born with abnormal fusion of at least two spinal bones (vertebrae) in the neck. Common features may include a short neck, low hairline at the back of the head, and restricted movement of the upper spine. Some people with KFS have no symptoms. Others may have frequent headaches, back and neck pain, and other nerve issues. People with KFS are at risk for severe spinal injury. KFS can occur along with other types of birth defects, and sometimes KFS occurs as a feature of another disorder or syndrome.
Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae. Epidemiology The prevalence has been estimated at 1 in 50,000. Clinical description The syndrome was first reported in 1912 by Maurice Klippel and André Feil and is often associated with the classic clinical triad of manifestations consisting of a low posterior hairline, short neck, and limited neck range of motion. However, subsequent studies have shown that only 34% to 74% of patients present with such findings. The phenotypic expression of Klippel-Feil syndrome is variable, occurring with or without extraskeletal manifestations or any additional spinal abnormalities. Etiology The syndrome is caused by failure of cervical segmentation in the early stages of pregnancy but the exact aetiology and mode of inheritance remain unknown.
A number sign (#) is used with this entry because Klippel-Feil syndrome-3 (KFS3) is caused by heterozygous mutation in the GDF3 gene (606522) on chromosome 12p13. Description Klippel-Feil syndrome is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100). Clinical Features Ye et al. (2010) described a 3-generation North American family with a spectrum of ocular and skeletal phenotypes.
(in German). 22 : 489–91 and 509–11. ^ Weber F, Lehmann-Horn F (28 April 2009). Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.).
Rat-bite fever (RBF) is a systemic bacterial zoonosis occurring in individuals that have been bitten or scratched by Streptobacillus moniliformis or Spirillum minus -infected rats and characterized by high fever, a rash on the extremities, and arthralgia. Epidemiology The exact incidence is unknown. Clinical description The clinical manifestations include high fever followed by headaches, chills, vomiting, a rash generally developing on the palms and soles, and symmetric polyarthritis of the joints that generally restricts movement. Etiology Most reported cases of rat-bite fever in the USA are caused by S. moniliformis (streptobacillary rat-bite fever), whereas in Asia the disease is mainly due to Spirillum minus (spirillary rat-bite fever; see these terms). Rat-bite fever is also contracted through contact with secretions of infected rats and less often through contact with other S. moniliformis and S. minus hosts, such as gerbils, mice and squirrels. In rare cases, the disease is transmitted through animal hosts such as dogs, cats and ferrets.
National Institute on Alcohol Abuse and Alcoholism (NIAAA), Alcohol Alert (28). April 1995 . Retrieved 2009-08-13 . ^ "Alcohol-Induced Liver Disease" .
Pain medications may help with symptoms. [19] Other recommendations may include rest and keeping well hydrated. [ citation needed ] Antibiotics [ edit ] Evidence does not support the general use of antibiotics in acute bronchitis. [12] A systematic review found antibiotics reduced cough by an average of 12 hours (out of a total average of about 14–28 days). Antibiotics caused more side effects such as nausea and diarrhoea, and also may promote antibiotic-resistant bacteria .
Eli Lilly and Company , [25] was brought against Eli Lilly claiming that the Cymbalta label omitted important information about "brain zaps" and other symptoms upon cessation. [26] Eli Lilly moved for dismissal per the " learned intermediary doctrine" as the doctors prescribing the drug were warned of the potential problems and are an intermediary medical judgment between Lilly and patients; in December 2013 Lilly's motion to dismiss was denied. [27] Research [ edit ] The mechanisms of antidepressant withdrawal syndrome have not yet been conclusively identified. [2] [8] The leading hypothesis is that after the antidepressant is discontinued, there is a temporary, but in some cases, long-lasting, deficiency in the brain of one or more essential neurotransmitters that regulate mood, such as serotonin , dopamine , norepinephrine , and gamma-aminobutyric acid , and since neurotransmitters are an interrelated system, dysregulation of one affects the others. [2] [28] See also [ edit ] Psychiatry portal Benzodiazepine withdrawal syndrome References [ edit ] ^ a b c "Antidepressant Withdrawal Syndrome" . ubc.ca .
