WordNet

present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
any of several degenerative nervous disorders characterized by spasmodic movements of the body and limbs

PrepTutorEJDIC

(病気・身体的欠陥など)生まれつきの,先天的な
舞踏病(顔面筋および四肢のけいれんを氷こす神経系の病気)
(家庭や農場の)雑用,毎日のきまりきった仕事 / (きまりきっていて)つまらない仕事

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1. 舞踏病の概要overview of chorea [show details]
… (idiopathic, hereditary) or secondary (acquired). Hereditary choreas tend to develop insidiously and are generally symmetrical, whereas acquired choreas are more likely to be acute or subacute and can be …
2. シデナム舞踏病sydenham chorea [show details]
… Sydenham chorea (SC), or rheumatic chorea, is one of the major clinical manifestations of acute rheumatic fever (ARF) and is the most common form of acquired chorea in childhood. It is a movement disorder …
3. 小児における運動過多な運動障害hyperkinetic movement disorders in children [show details]
… Corticosteroids may shorten the course of Sydenham chorea. A dyskinetic movement disorder may complicate cardiac surgery in a small number of children with congenital heart disease. The estimated frequency of …
4. ハンチントン病：臨床的特徴および診断huntington disease clinical features and diagnosis [show details]
… indistinguishable from HD . Genetic testing is available for most of these phenocopies. Acquired causes of chorea include the following: Drug and toxic exposure. Tardive dyskinesia, which is associated …
5. ハンチントン病：管理huntington disease management [show details]
…become more prominent in late stages of disease. Thus, treatment directed at chorea should be periodically reconsidered. Chorea may increase with anxiety and stress . Providing a calm, predictable, and structured …

English Journal

NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients.

Shetty VB, Kiraly-Borri C, Lamont P, Bikker H, Choong CS.AbstractAbstract Brain-lung-thyroid syndrome (BLTS) characterized by congenital hypothyroidism, respiratory distress syndrome, and benign hereditary chorea is caused by thyroid transcription factor 1 (NKX2-1/TTF1) mutations. We report the clinical and molecular characteristics of four cases presenting with primary hypothyroidism, respiratory distress, and neurological disorder. Two of the four patients presenting with the triad of BLTS had NKX2-1 mutations, and one of these NKX2-1 [c.890_896del (p.Ala327Glyfs*52)] is a novel variant. The third patient without any identified NKX2-1 mutations was a carrier of mitochondrial mutation; this raises the possibility of mitochondrial mutations contributing to thyroid dysgenesis. Although rare, the triad of congenital hypothyroidism, neurological, and respiratory signs is highly suggestive of NKX2-1 anomalies. Screening for NKX2-1 mutations in patients with thyroid, lung, and neurological abnormalities will enable a unifying diagnosis and genetic counseling for the affected families. In addition, identification of an NKX2-1 defect would be helpful in allaying the concerns about inadequate thyroxine supplementation as the cause of neurological defects observed in some children with congenital hypothyroidism.
Journal of pediatric endocrinology & metabolism : JPEM.J Pediatr Endocrinol Metab.2014 Mar 1;27(3-4):373-8. doi: 10.1515/jpem-2013-0109.
Abstract Brain-lung-thyroid syndrome (BLTS) characterized by congenital hypothyroidism, respiratory distress syndrome, and benign hereditary chorea is caused by thyroid transcription factor 1 (NKX2-1/TTF1) mutations. We report the clinical and molecular characteristics of four cases presenting with
PMID 24129101

New Zealand guidelines for the diagnosis of acute rheumatic fever: small increase in the incidence of definite cases compared to the American Heart Association Jones criteria.

Wilson NJ1, Voss L, Morreau J, Stewart J, Lennon D.Author information 1Green Lane Paediatric and Congenital Cardiac Services, Starship Children's Hospital, Private Bag 92 024, Auckland, New Zealand. Nigel.Wilson@adhb.govt.nz.AbstractAIM: The aim of the study was to compare utilisation of the New Zealand guidelines for the diagnosis of acute rheumatic fever (ARF) compared to the American Heart Association Jones criteria in a cohort of children
The New Zealand medical journal.N Z Med J.2013 Aug 2;126(1379):50-9.
AIM: The aim of the study was to compare utilisation of the New Zealand guidelines for the diagnosis of acute rheumatic fever (ARF) compared to the American Heart Association Jones criteria in a cohort of childrenMETHOD: Retrospective review of 79 consecutive hospital diagnosed cases of ARF referred
PMID 24045352

The unresolved puzzle why alanine extensions cause disease.

Winter R1, Liebold J, Schwarz E.Author information 1Department for Technical Biochemistry , Martin-Luther-University Halle-Wittenberg, Kurt-Mothes-Str. 3, D-06120 Halle, Germany.AbstractThe prospective increase in life expectancy will be accompanied by a rise in the number of elderly people who suffer from ill health caused by old age. Many diseases caused by aging are protein misfolding diseases. The molecular mechanisms underlying these disorders receive constant scientific interest. In addition to old age, mutations also cause congenital protein misfolding disorders. Chorea Huntington, one of the most well-known examples, is caused by triplet extensions that can lead to more than 100 glutamines in the N-terminal region of huntingtin, accompanied by huntingtin aggregation. So far, nine disease-associated triplet extensions have also been described for alanine codons. The extensions lead primarily to skeletal malformations. Eight of these proteins represent transcription factors, while the nuclear poly-adenylate binding protein 1, PABPN1, is an RNA binding protein. Additional alanines in PABPN1 lead to the disease oculopharyngeal muscular dystrophy (OPMD). The alanine extension affects the N-terminal domain of the protein, which has been shown to lack tertiary contacts. Biochemical analyses of the N-terminal domain revealed an alanine-dependent fibril formation. However, fibril formation of full-length protein did not recapitulate the findings of the N-terminal domain. Fibril formation of intact PABPN1 was independent of the alanine segment, and the fibrils displayed biochemical properties that were completely different from those of the N-terminal domain. Although intranuclear inclusions have been shown to represent the histochemical hallmark of OPMD, their role in pathogenesis is currently unclear. Several cell culture and animal models have been generated to study the molecular processes involved in OPMD. These studies revealed a number of promising future therapeutic strategies that could one day improve the quality of life for the patients.
Biological chemistry.Biol Chem.2013 Aug;394(8):951-63. doi: 10.1515/hsz-2013-0112.
The prospective increase in life expectancy will be accompanied by a rise in the number of elderly people who suffer from ill health caused by old age. Many diseases caused by aging are protein misfolding diseases. The molecular mechanisms underlying these disorders receive constant scientific inter
PMID 23612654