WordNet

(often used in combination) not genuine but having the appearance of; "a pseudo esthete"; "pseudoclassic"

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偽りの;見せかけの

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1. 幼児および小児における低カルシウム血症の病因 etiology of hypocalcemia in infants and children

English Journal

Sinus pauses and high-grade atrioventricular block in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism.

Rahmat N, Venables P.SourceDepartment of Cardiology, Ipswich Hospital, Ipswich, UK.
BMJ case reports.BMJ Case Rep.2013 Jun 24;2013(jun24_1). pii: bcr2013010116. doi: 10.1136/bcr-2013-010116.
Albright's hereditary osteodystrophy (AHO) is a rare inherited syndrome involving the molecular defects in the gene encoding the α subunit of the stimulatory G protein (Gsα). AHO has several variants, mainly pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP). We present a fam
PMID 23814007

Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism.

Hacıhamdioğlu B, Arslan M, Sarı E, Kurtçu K, Yesilkaya E.AbstractAbstract Patients with Albright hereditary osteodystrophy (AHO) phenotype are usually seen in pediatric endocrinology policlinics when they are evaluated for short stature and/or obesity. Brachydactyly mental retardation syndrome (BDMR, OMIM #600430) is a rare genetic disorder caused by aberrations of chromosomal region 2q37 and characterized with AHO-like phenotype without any hormone resistance. Diagnosis of BDMR is based on the detection of the deletion on the long arm of chromosome 2. Diagnosis can usually be made with karyotype analysis but sometimes chromosomal deletion can only be detected by fluorescent in situ hybridization (FISH) screening. We report a patient with the AHO phenotype whose karyotype was normal but who was diagnosed with BDMR with FISH analysis showing 2q deletion. In pediatric endocrinology practice, in patients with AHO phenotype but without parathormone (PTH) resistance, BDMR should be considered. For the diagnosis of BDMR, the subtelomeric region of chromosome 2 should be screened for deletion by FISH analysis even in patients with normal karyotypes.
Journal of pediatric endocrinology & metabolism : JPEM.J Pediatr Endocrinol Metab.2013 May 6:1-3. doi: 10.1515/jpem-2012-0375. [Epub ahead of print]
Abstract Patients with Albright hereditary osteodystrophy (AHO) phenotype are usually seen in pediatric endocrinology policlinics when they are evaluated for short stature and/or obesity. Brachydactyly mental retardation syndrome (BDMR, OMIM #600430) is a rare genetic disorder caused by aberrations
PMID 23645122

Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.

Fernández-Rebollo E, Lecumberri B, Gaztambide S, Martinez-Indart L, Perez de Nanclares G, Castaño L; Spanish PHP Group.Collaborators (68)Arroyo J, Sáez F, Sánchez A, Domínguez A, Santana A, Ruiz R, Castro L, Rivas C, Pérez O, Molinos S, Castaño L, Gaztambide S, Moure MD, Rodríguez A, Vela A, Sáez R, Unanue G, Menéndez E, Anda E, Pavia C, Diez-Lopez I, Bonet M, Morales MJ, Zapico M, Aguirre M, Muñoz MT, Rubio-Cabezas O, Argente J, Audi L, Yeste D, Soriguer F, García M, Rodríguez RM, Goñi MJ, Armenta D, Gonzalez-Duarte D, Barrio R, Cámara A, Martorell L, Suárez L, Cardona R, Gean E, García-Cuartero B, Pereira MS, Rodríguez B, Azriel S, Sánchez del Pozo J, Jiménez JM, Sentchordi L, Espino-Aguilar R, Beneyto M, Álvarez C, Lecumberri B, Luzuriaga C, Calvo MT, Labarta JI, Saavedra P, Cañete Estrada R, Orduña R, Guillen-Navarro E, Guillen C, Goñi F, Del Valle J, Luque I, Menéndez A, Vicente A, Berrade S, Oyarzabal M.
The Journal of clinical endocrinology and metabolism.J Clin Endocrinol Metab.2013 May;98(5):E996-1006. doi: 10.1210/jc.2012-4164. Epub 2013 Mar 26.
CONTEXT: Recent advances in genetics and epigenetics have revealed an overlap between molecular and clinical features of pseudohypoparathyroidism (PHP) subtypes, broadening the previous spectrum of PHP genotype-phenotype correlations and indicating limitations of the current classification of the di
PMID 23533243

Japanese Journal

HEART's Original [症例] 偽性偽性副甲状腺機能低下症に発症した高度な冠動脈石灰化を伴う急性心筋梗塞の1例

松本真,小谷英太郎,時田祐吉,中込明裕,草間芳樹,新博次
心臓 39(10), 918-924, 2007
症例は62歳,男性.幼少時に精神発育遅滞と診断され施設に入所中.家族歴特記すべきことなし,冠危険因子なし.全身倦怠感,顔面および下肢浮腫,労作時呼吸困難を主訴に当科受診.来院時心電図にてI,II,aV<SUB>F</SUB>,V<SUB>2～6</SUB>誘導のST下降,心筋逸脱酵素の上昇(CK613,CK-MB93IU/L)を認め,非ST上昇型急性 …
NAID 130004415855

Case of pseudo-pseudohypoparathyroidism associated with juvenile dementia

MAEDA KAZUHISA,SHIRAYAMA YUKIHIKO,NAGAMI TAKEFUSA,YOSHIOKA SHINICHI,KAWAHARA RYUZO
Psychiatry and clinical neurosciences 59(1), 111, 2005-02-01
NAID 10016130764

特集　カルシウム　骨代謝異常の臨床　ＩＩ．　診断と治療の進歩　２．　低カルシウム血症　２）　偽性および偽性偽性副甲状腺機能低下症:2)偽性および偽性偽性副甲状腺機能低下症

森聖子
日本内科学会雑誌 82(12), 1968-1975, 1993
偽性副甲状腺機能低下症(PHP)は副甲状腺ホルモン(PTH)の分泌能は正常でありながら,その作用の不全から低Ca血症などの副甲状腺機能低下状態にいたるホルモン不応症である.近年PHPの一部にGs蛋白の異常が見つかり,その発症機序との関連が注目されている.しかしながらPHPの中にはGs蛋白に異常を認めない症例も多く,またPHPの病態はGs蛋白の異常のみでは説明できない.さらにPTH受容体の構造異常を …
NAID 130000899690