"Autoimmune encephalitis in humans: how closely does it reflect multiple sclerosis?" . Acta Neuropathol Commun . 3 (1): 80. doi : 10.1186/s40478-015-0260-9 .
Consider transferring direct quotations to Wikiquote . ( September 2010 ) Part of a series on Psychology Outline History Subfields Basic types Abnormal Behavioral genetics Biological Cognitive / Cognitivism Comparative Cross-cultural Cultural Differential Developmental Evolutionary Experimental Mathematical Neuropsychology Personality Positive Quantitative Social Applied psychology Applied behavior analysis Clinical Community Consumer Counseling Critical Educational Environmental Ergonomics Forensic Health Humanistic Industrial and organizational Legal Medical Military Music Occupational health Political Religion School Sport Traffic Lists Disciplines Organizations Psychologists Psychotherapies Publications Research methods Theories Timeline Topics Psychology portal v t e An idée fixe is a preoccupation of mind believed to be firmly resistant to any attempt to modify it, a fixation.
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From 17% of pregnancies in Mexico to 35% in Chile are estimated to end in induced abortion." (1994 figures) ^ Sarah Vrba, Abortion Ban Puts Teen’s Life in Danger in Dominican Republic Care2.com, Published July 27, 2012 ^ Rafael Romo, Dominican Republic abortion ban stops treatment for pregnant teen with cancer CNN, Published July 25, 2012 ^ Freya Petersen, Abortion debate heats up in Dominican Republic as pregnant teenager lies dying of cancer , Global Post, Published July 27, 2012 ^ Rafael Romo, Chemotherapy starts for pregnant Dominican teen at center of abortion debate Archived August 5, 2012, at the Wayback Machine Chemotherapy starts for pregnant Dominican teen at center of abortion debate], CNN, Published July 26, 2012 ^ Pregnant teen dies after abortion ban delays her chemo treatment for leukemia Rafael Romo, CNN, Published August 18, 2012 v t e Abortion in North America Sovereign states Antigua and Barbuda Bahamas Barbados Belize Canada Costa Rica Cuba Dominica Dominican Republic El Salvador Grenada Guatemala Haiti Honduras Jamaica Mexico Nicaragua Panama Saint Kitts and Nevis Saint Lucia Saint Vincent and the Grenadines Trinidad and Tobago United States Dependencies and other territories Anguilla Aruba Bermuda Bonaire British Virgin Islands Cayman Islands Curaçao Greenland Guadeloupe Martinique Montserrat Puerto Rico Saint Barthélemy Saint Martin Saint Pierre and Miquelon Saba Sint Eustatius Sint Maarten Turks and Caicos Islands United States Virgin Islands v t e Abortion Main topics Definitions History Methods Abortion debate Philosophical aspects Abortion law Movements Abortion-rights movements Anti-abortion movements Issues Abortion and mental health Beginning of human personhood Beginning of pregnancy controversy Abortion-breast cancer hypothesis Anti-abortion violence Abortion under communism Birth control Crisis pregnancy center Ethical aspects of abortion Eugenics Fetal rights Forced abortion Genetics and abortion Late-term abortion Legalized abortion and crime effect Libertarian perspectives on abortion Limit of viability Malthusianism Men's rights Minors and abortion Natalism One-child policy Paternal rights and abortion Prenatal development Reproductive rights Self-induced abortion Sex-selective abortion Sidewalk counseling Societal attitudes towards abortion Socialism Toxic abortion Unsafe abortion Women's rights By country Africa Algeria Angola Benin Botswana Burkina Faso Burundi Cameroon Cape Verde Central African Republic Chad Egypt Ghana Kenya Namibia Nigeria South Africa Uganda Zimbabwe Asia Afghanistan Armenia Azerbaijan Bahrain Bangladesh Bhutan Brunei Cambodia China Cyprus East Timor Georgia India Iran Israel Japan Kazakhstan South Korea Malaysia Nepal Northern Cyprus Philippines Qatar Saudi Arabia Singapore Turkey United Arab Emirates Vietnam Yemen Europe Albania Andorra Austria Belarus Belgium Bosnia and Herzegovina Bulgaria Croatia Czech Republic Denmark Estonia Finland France Germany Greece Hungary Iceland Ireland Italy Kazakhstan Latvia Liechtenstein Lithuania Luxembourg Malta Moldova Monaco Montenegro Netherlands North Macedonia Norway Poland Portugal Romania Russia San Marino Serbia Slovakia Slovenia Spain Sweden Switzerland Ukraine United Kingdom North America Belize Canada Costa Rica Cuba Dominican Republic El Salvador Guatemala Mexico Nicaragua Panama Trinidad and Tobago United States Oceania Australia Micronesia Fiji Kiribati Marshall Islands New Zealand Papua New Guinea Samoa Solomon Islands Tonga Tuvalu Vanuatu South America Argentina Bolivia Brazil Chile Colombia Ecuador Guyana Paraguay Peru Suriname Uruguay Venezuela Law Case law Constitutional law History of abortion law Laws by country Buffer zones Conscientious objection Fetal protection Heartbeat bills Informed consent Late-term restrictions Parental involvement Spousal consent Methods Vacuum aspiration Dilation and evacuation Dilation and curettage Intact D&X Hysterotomy Instillation Menstrual extraction Abortifacient drugs Methotrexate Mifepristone Misoprostol Oxytocin Self-induced abortion Unsafe abortion Religion Buddhism Christianity Catholicism Hinduism Islam Judaism Scientology Category
Normal-pressure hydrocephalus Other names Malresorptive hydrocephalus Specialty Neurology Normal-pressure hydrocephalus ( NPH ), also called malresorptive hydrocephalus , is form of communicating hydrocephalus in which excess cerebrospinal fluid (CSF) occurs in the ventricles , and with normal or slightly elevated cerebrospinal fluid pressure .
This article includes a list of references , related reading or external links , but its sources remain unclear because it lacks inline citations . Please help to improve this article by introducing more precise citations. ( April 2011 ) ( Learn how and when to remove this template message ) Low pressure hydrocephalus Ventricles position Specialty Neurology Low-pressure hydrocephalus (LPH) is a condition whereby ventricles are enlarged and the individual experiences severe dementia , inability to walk, and incontinence – despite very low intracranial pressure (ICP). Low pressure hydrocephalus appears to be a more acute form of normal pressure hydrocephalus . If not diagnosed in a timely fashion, the individual runs the risk of remaining in the low pressure hydrocephalic state or LPHS. Shunt revisions, even when they are set to drain at a low ICP, are not always effective.
Diets that consist of less than 6% protein in utero have been linked with many deficits, including decreased brain weight, increased obesity, and impaired communication within the brain in some animals.
External links [ edit ] About D&C and alternatives http://womanworldonline.pl/ v t e Abortion Main topics Definitions History Methods Abortion debate Philosophical aspects Abortion law Movements Abortion-rights movements Anti-abortion movements Issues Abortion and mental health Beginning of human personhood Beginning of pregnancy controversy Abortion-breast cancer hypothesis Anti-abortion violence Abortion under communism Birth control Crisis pregnancy center Ethical aspects of abortion Eugenics Fetal rights Forced abortion Genetics and abortion Late-term abortion Legalized abortion and crime effect Libertarian perspectives on abortion Limit of viability Malthusianism Men's rights Minors and abortion Natalism One-child policy Paternal rights and abortion Prenatal development Reproductive rights Self-induced abortion Sex-selective abortion Sidewalk counseling Societal attitudes towards abortion Socialism Toxic abortion Unsafe abortion Women's rights By country Africa Algeria Angola Benin Botswana Burkina Faso Burundi Cameroon Cape Verde Central African Republic Chad Egypt Ghana Kenya Namibia Nigeria South Africa Uganda Zimbabwe Asia Afghanistan Armenia Azerbaijan Bahrain Bangladesh Bhutan Brunei Cambodia China Cyprus East Timor Georgia India Iran Israel Japan Kazakhstan South Korea Malaysia Nepal Northern Cyprus Philippines Qatar Saudi Arabia Singapore Turkey United Arab Emirates Vietnam Yemen Europe Albania Andorra Austria Belarus Belgium Bosnia and Herzegovina Bulgaria Croatia Czech Republic Denmark Estonia Finland France Germany Greece Hungary Iceland Ireland Italy Kazakhstan Latvia Liechtenstein Lithuania Luxembourg Malta Moldova Monaco Montenegro Netherlands North Macedonia Norway Poland Portugal Romania Russia San Marino Serbia Slovakia Slovenia Spain Sweden Switzerland Ukraine United Kingdom North America Belize Canada Costa Rica Cuba Dominican Republic El Salvador Guatemala Mexico Nicaragua Panama Trinidad and Tobago United States Oceania Australia Micronesia Fiji Kiribati Marshall Islands New Zealand Papua New Guinea Samoa Solomon Islands Tonga Tuvalu Vanuatu South America Argentina Bolivia Brazil Chile Colombia Ecuador Guyana Paraguay Peru Suriname Uruguay Venezuela Law Case law Constitutional law History of abortion law Laws by country Buffer zones Conscientious objection Fetal protection Heartbeat bills Informed consent Late-term restrictions Parental involvement Spousal consent Methods Vacuum aspiration Dilation and evacuation Dilation and curettage Intact D&X Hysterotomy Instillation Menstrual extraction Abortifacient drugs Methotrexate Mifepristone Misoprostol Oxytocin Self-induced abortion Unsafe abortion Religion Buddhism Christianity Catholicism Hinduism Islam Judaism Scientology Category v t e Tests and procedures involving the female reproductive system Gynecological surgery Ovaries Oophorectomy Salpingoophorectomy Fallopian tubes Falloposcopy Salpingectomy Tubal ligation Essure Tubal reversal Uterus General: Genitoplasty Hysterectomy Hysterotomy Pelvic exenteration Uterine artery embolization Transplantation Uterine cavity : Hysteroscopy Vacuum aspiration Endometrium : Endometrial biopsy Endometrial ablation Myometrium : Uterine myomectomy Cervix : Colposcopy Cervical conization LEEP Cervical cerclage Cervical screening ( pap test ) Cervicectomy Pessary insertion Vagina Vaginectomy Culdoscopy Culdocentesis Episiotomy husband stitch Hymenotomy Colpocleisis Hymenorrhaphy Vaginal wet mount Vaginal transplantation Vulva Vulvectomy Female genital mutilation Labiaplasty Clitoral hood reduction Vestibulectomy Medical imaging Gynecologic ultrasonography Hysterosalpingography
Globally, athlete's foot affects about 15% of the population. [4] Tinea pedis is caused by fungi such as Epidermophyton floccosum or fungi of the genus Trichophyton including T. rubrum [5] and T. mentagrophytes . [6] These fungi are typically transmitted in moist communal areas where people go barefoot, such as around swimming pools or in showers, and require a warm moist environment like the inside of a shoe to incubate.
Scharf, R. (2001) "Pedophobia, the gynarchy , and the androcracy ," Journal of Psychohistory 28 (3) (Winter 2001) p. 281-302. v t e Mental and behavioral disorders Adult personality and behavior Gender dysphoria Ego-dystonic sexual orientation Paraphilia Fetishism Voyeurism Sexual maturation disorder Sexual relationship disorder Other Factitious disorder Munchausen syndrome Intermittent explosive disorder Dermatillomania Kleptomania Pyromania Trichotillomania Personality disorder Childhood and learning Emotional and behavioral ADHD Conduct disorder ODD Emotional and behavioral disorders Separation anxiety disorder Movement disorders Stereotypic Social functioning DAD RAD Selective mutism Speech Stuttering Cluttering Tic disorder Tourette syndrome Intellectual disability X-linked intellectual disability Lujan–Fryns syndrome Psychological development ( developmental disabilities ) Pervasive Specific Mood (affective) Bipolar Bipolar I Bipolar II Bipolar NOS Cyclothymia Depression Atypical depression 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PMID 16674955 . v t e Abortion Main topics Definitions History Methods Abortion debate Philosophical aspects Abortion law Movements Abortion-rights movements Anti-abortion movements Issues Abortion and mental health Beginning of human personhood Beginning of pregnancy controversy Abortion-breast cancer hypothesis Anti-abortion violence Abortion under communism Birth control Crisis pregnancy center Ethical aspects of abortion Eugenics Fetal rights Forced abortion Genetics and abortion Late-term abortion Legalized abortion and crime effect Libertarian perspectives on abortion Limit of viability Malthusianism Men's rights Minors and abortion Natalism One-child policy Paternal rights and abortion Prenatal development Reproductive rights Self-induced abortion Sex-selective abortion Sidewalk counseling Societal attitudes towards abortion Socialism Toxic abortion Unsafe abortion Women's rights By country Africa Algeria Angola Benin Botswana Burkina Faso Burundi Cameroon Cape Verde Central African Republic Chad Egypt Ghana Kenya Namibia Nigeria South Africa Uganda Zimbabwe Asia Afghanistan Armenia Azerbaijan Bahrain Bangladesh Bhutan Brunei Cambodia China Cyprus East Timor Georgia India Iran Israel Japan Kazakhstan South Korea Malaysia Nepal Northern Cyprus Philippines Qatar Saudi Arabia Singapore Turkey United Arab Emirates Vietnam Yemen Europe Albania Andorra Austria Belarus Belgium Bosnia and Herzegovina Bulgaria Croatia Czech Republic Denmark Estonia Finland France Germany Greece Hungary Iceland Ireland Italy Kazakhstan Latvia Liechtenstein Lithuania Luxembourg Malta Moldova Monaco Montenegro Netherlands North Macedonia Norway Poland Portugal Romania Russia San Marino Serbia Slovakia Slovenia Spain Sweden Switzerland Ukraine United Kingdom North America Belize Canada Costa Rica Cuba Dominican Republic El Salvador Guatemala Mexico Nicaragua Panama Trinidad and Tobago United States Oceania Australia Micronesia Fiji Kiribati Marshall Islands New Zealand Papua New Guinea Samoa Solomon Islands Tonga Tuvalu Vanuatu South America Argentina Bolivia Brazil Chile Colombia Ecuador Guyana Paraguay Peru Suriname Uruguay Venezuela Law Case law Constitutional law History of abortion law Laws by country Buffer zones Conscientious objection Fetal protection Heartbeat bills Informed consent Late-term restrictions Parental involvement Spousal consent Methods Vacuum aspiration Dilation and evacuation Dilation and curettage Intact D&X Hysterotomy Instillation Menstrual extraction Abortifacient drugs Methotrexate Mifepristone Misoprostol Oxytocin Self-induced abortion Unsafe abortion Religion Buddhism Christianity Catholicism Hinduism Islam Judaism Scientology Category v t e Tests and procedures involving the female reproductive system Gynecological surgery Ovaries Oophorectomy Salpingoophorectomy Fallopian tubes Falloposcopy Salpingectomy Tubal ligation Essure Tubal reversal Uterus General: Genitoplasty Hysterectomy Hysterotomy Pelvic exenteration Uterine artery embolization Transplantation Uterine cavity : Hysteroscopy Vacuum aspiration Endometrium : Endometrial biopsy Endometrial ablation Myometrium : Uterine myomectomy Cervix : Colposcopy Cervical conization LEEP Cervical cerclage Cervical screening ( pap test ) Cervicectomy Pessary insertion Vagina Vaginectomy Culdoscopy Culdocentesis Episiotomy husband stitch Hymenotomy Colpocleisis Hymenorrhaphy Vaginal wet mount Vaginal transplantation Vulva Vulvectomy Female genital mutilation Labiaplasty Clitoral hood reduction Vestibulectomy Medical imaging Gynecologic ultrasonography Hysterosalpingography
Specific genotyping assays are needed to detect the C (cytosine) duplication in the VNTR region; the pathogenic variant is not identifiable by routine sequence analysis (Sanger or massively parallel sequence analysis) due to the repetitive nature of the surrounding sequence [Kirby et al 2013]. 4. 21 of 24 families with autosomal dominant interstitial kidney disease (without a pathogenic variant in either UMOD or REN ) [A Bleyer, personal communication] Clinical Characteristics Clinical Description Autosomal dominant tubulointerstitial kidney disease, MUC1 -related (ADTKD -MUC1 ) is characterized by slowly progressive tubulointerstitial disease that leads to end-stage renal disease (ESRD).
Medullary cystic kidney disease type 1 (MCKD1) is an inherited condition that affects the kidneys. It leads to scarring (fibrosis) and impaired function of the kidneys, usually beginning in adulthood. The kidneys filter fluid and waste products from the body. They also reabsorb needed nutrients and release them back into the blood. As MCKD1 progresses, the kidneys are less able to function, resulting in kidney failure. Declining kidney function in people with MCKD1 leads to the signs and symptoms of the condition.
A number sign (#) is used with this entry because of evidence that autosomal dominant medullary cystic kidney disease-1 (MCKD1) is caused by heterozygous mutation in the MUC1 gene (158340) on chromosome 1q22. Description Medullary cystic kidney disease (MCKD) is an autosomal dominant form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade (Wolf et al., 2004). Although early reports suggested that medullary cystic kidney disease and familial juvenile nephronophthisis (NPHP1; 256100) represented the same disease entity because of the overlapping phenotype (Chamberlin et al., 1977), they are now considered to be distinct disorders. MCKD has adult onset and shows autosomal dominant inheritance, whereas NPHP1 has juvenile onset and shows autosomal recessive inheritance (Christodoulou et al., 1998).
A chronic tubulointerstitial nephropathy, which belongs, together with nephronophthisis (NPH), to a heterogeneous group of inherited tubulo-interstitial nephritis, termed NPH-MCKD complex. Epidemiology Less than 60 families affected by Autosomal dominant medullary cystic kidney disease (ADMCKD) have been described. Prevalence is estimated to be 1/100 000. Clinical description Clinical onset and course are insidious. Symptoms typically appear at an average age of 28 years, when the urinary concentrating ability is markedly reduced, producing polyuria and stable low urinary osmolality in the first morning urine and lack of any compensatory effect after endo nasal desmopressin (2 pushes). Later, anemia, metabolic acidosis and uremia reflect the progressive renal insufficiency.
Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations (ADTKD-MUC1) is an inherited disorder that causes a gradual loss of kidney function. This may lead to the need for dialysis or kidney transplant usually between the ages of 30 and 70. This condition is not associated with any symptoms outside of the kidney. ADTKD-MUC1 is caused by a mistake (mutation) in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function ADTKD-MUC1 is inherited in families in an autosomal dominant pattern. It is diagnosed based on laboratory testing, family history and genetic testing.
Therefore, it is possible that stimulation of the peripheral trigeminal nerve activates the hypothalamus and the hypothalamus in turn communicates with the trigeminal nucleus caudalis via neurotransmitters such as orexin .
SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing). Epidemiology The prevalence is estimated at approximately 1 in 15,000. It is slightly more predominant in males (male-to-female ratio of 1.5:1), with a mean age of onset of around 50 years. A few cases of SUNCT syndrome have been reported in children. Clinical description The disease manifests with strictly unilateral pain attacks of moderate-to-severe intensity. The pain is described as throbbing, sharp or stabbing. It usually involves the ophthalmic division of the trigeminal nerve but, rarely, it may involve any part of the head.
Contact someone from your faith community. If you notice signs or symptoms in a family member or friend, talk to that person about seeing a doctor or mental health provider.
Medications are useful for treating comorbid disorders, such as depression and anxiety. [142] Short-term hospitalization has not been found to be more effective than community care for improving outcomes or long-term prevention of suicidal behavior in those with BPD. [143] Psychotherapy [ edit ] Long-term psychotherapy is currently the treatment of choice for BPD. [144] While psychotherapy, in particular dialectical behavior therapy and psychodynamic approaches, is effective, the effects are slow: many people have to put in years of work to be effective. [145] More rigorous treatments are not substantially better than less rigorous treatments. [146] There are six such treatments available: dynamic deconstructive psychotherapy (DDP) , [147] mentalization-based treatment (MBT) , transference-focused psychotherapy , dialectical behavior therapy (DBT) , general psychiatric management, and schema-focused therapy . [13] While DBT is the therapy that has been studied the most, [148] all these treatments appear effective for treating BPD, except for schema-focused therapy. [13] [ ambiguous ] Long-term therapy of any kind, in
"A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome". Biochem. Biophys. Res. Commun . 214 (1): 86–93. doi : 10.1006/bbrc.1995.2260 .
A number sign (#) is used with this entry because this syndrome represents a phenotype that can be produced by mutation in more than 1 mitochondrial gene, e.g., MTTK (590060), MTTL1 (590050), MTTH (590040), MTTS1 (590080), MTTS2 (590085), MTTF (590070). Features of the MERRF syndrome have also been associated with mutation in the MTND5 gene (516005). Clinical Features Fukuhara et al. (1980) provided an early report of myoclonic epilepsy associated with ragged-red fibers (MERRF). For detailed clinical features, see MOLECULAR GENETICS Inheritance Rosing et al. (1985) described an extensive family in which many members showed this combination of abnormalities which goes by the acronymic designation MERRF syndrome. Autosomal dominant, autosomal recessive, and X-linked inheritance could be excluded.
Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among members of the same family. MERRF is characterized by muscle twitches (myoclonus), weakness (myopathy), and progressive stiffness (spasticity). When the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal.
Recommended Evaluations Following Initial Diagnosis in Individuals with MERRF View in own window System/Concern Evaluation Comment Growth Measurement of height & weight To evaluate for short stature Neurologic Neurologic eval To assess for neurologic deficits Head MRI w/MRS To evaluate for pathologic changes at baseline EEG If seizures are suspected Neuropsychiatric testing To assess cognitive abilities & evidence of dementia Ears Audiologic eval To detect hearing loss Eyes Ophthalmologic eval To screen for ptosis, optic atrophy, pigmentary retinopathy, ophthalmoplegia, vision deficits Musculoskeletal PT/OT assessment For persons w/neurologic deficits Cardiovascular Cardiac eval incl echocardiogram To evaluate for cardiomyopathy & cardiac defects Electrocardiogram To screen for conduction abnormalities Endocrinologic Fasting serum glucose Glucose tolerance test To screen for diabetes mellitus Genetic counseling By genetics professionals 1 To inform patients & their families re nature, MOI, & implications of MERRF to facilitate medical & personal decision making Family support/ resources Assess: Use of community or online resources such as Parent to Parent; Need for social work involvement for parental support; Need for home nursing referral.
Myoclonic epilepsy with ragged red fibers (MERRF) is a multisystem disorder characterized by myoclonus , which is often the first symptom, followed by generalized epilepsy , ataxia, weakness, and dementia. Symptoms usually first appear in childhood or adolescence after normal early development. The features of MERRF vary widely from individual to individual, even within families. Other common findings include hearing loss, short stature, optic atrophy , and cardiomyopathy with Wolff-Parkinson-White (WPW) syndrome . The diagnosis is based on clinical features and a muscle biopsy finding of ragged red fibers (RRF).
MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures. Epidemiology The prevalence in the general population of Europe has been estimated at 0.9 in 100 000, but the disease seems to be more common in the USA. Clinical description Patients usually present during adolescence or early adulthood with myoclonic epilepsy, sometimes with neurosensory deafness, optic atrophy, short stature or peripheral neuropathy. A few cases have been associated with lipomatosis, cardiomyopathy, pigmentary retinopathy, ophthalmoparesis and/or pyramidal signs. The disease is progressive with worsening of the epilepsy and onset of additional symptoms including ataxia, deafness, muscle weakness, and dementia.
A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms.
Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton. Epidemiology They are predominantly found in adults, and comprise 0.2% of all central nervous system tumors and 2-4% of all primary bone neoplasms, with an estimated prevalence of 1 in 2 million people and a male-to-female ratio of 2:1. Clinical description The clinical presentation depends entirely on the location of the chordoma. The main possible locations are the sacrum, intracranially at the clivus and along the spinal axis. When the tumor is intracranial, the most common presenting symptoms are diplopia, swallowing problems and headache.
A chordoma is a rare tumor that develops from cells of the notochord, a structure that is present in the developing embryo and is important for the development of the spine. The notochord usually disappears before birth, though a few cells may remain embedded in the bones of the spine or at the base of the skull. Chordomas typically present in adults between the ages of 40 and 70 and can occur anywhere along the spine. About half of all chordomas occur at the bottom of the spine (sacrum); about one third occur at the base of the skull. The remaining cases of chordomas form in the spine at the level of the neck, chest, or other parts of the lower back.
A number sign (#) is used with this entry because evidence suggests that susceptibility to the development of chordomas is conferred by duplication in the gene encoding brachyury (T; 601397). Description Chordomas are rare, clinically malignant tumors derived from notochordal remnants. They occur along the length of the spinal axis, predominantly in the sphenooccipital, vertebral, and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extension into adjacent soft tissues, and, rarely, distant metastatic spread (Stepanek et al., 1998). The incidence of chordoma is age-dependent, with fewer than 5% occurring in children and adolescents (summary by McMaster et al., 2011).