Results 71 to 80 of about 419 (137)

Síndrome de megavejiga-microcolon-hipoperistalsis intestinal: a propósito de un caso de supervivencia prolongada The megacystis-microcolon-intestinal hypoperistalsis syndrome: a propos of a case with prolonged survival

Nutrición Hospitalaria, 2008
El síndrome de megavejiga-microcolon-hipoperistaltismo intestinal (MMIHS) es una grave enfermedad congénita autosómica recesiva, caracterizada por distensión vesical e hipoperistaltismo intestinal que provoca obstrucción intestinal funcional en el ...
M. I. Magaña Pintiado, M. Al-Kassam Martínez, C. Bousoño García, E. Ramos Polo, M. E. Gómez Álvarez   +4 more
doaj  

ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

, 2016
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare congenital disorder, in which heterozygous missense variants in the Enteric Smooth Muscle actin gamma-2 (ACTG2) gene have been recently identified.
Dahl, N, Wijnen, Rene M. H., Van Der Werf, CS, Verheij, JBGM, Tibboel, Dick, van IJcken, Wilfred F. J., van Bever, Yolande, Baumann, C, Verdijk, Rob, Muller, F, Burns, Alan J., Muller, Franoise, Galjart, Niels; id_orcid, Dahl, Niklas, Hofstra, Robert, Wijnen, Rene, van Ijcken, Wilfred; id_orcid, Brouwer, Rutger, Alves, Maria, Alves, Maria M., van der Werf, Christine S., Brooks, Alice, Verdijk, Rob M., Kerner, J, Halim, Danny, Signorile, Luca, Baumann, Clarisse, Burns, Alan, Brooks, Alice S., Kerner, John, van Ijcken, Wilfred, Galjart, Niels, Verheij, Joke B. G. M., Hofstra, Robert M. W., Brouwer, Rutger W. W., Bever, Yolande, Sribudiani, Yunia   +36 more
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Megacystis-microcolon-intestinal hypoperistalsis syndrome. Prenatal sonographic findings and review of the literature.

, 1986
A case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in a male infant followed with serial prenatal sonographic examinations is presented. Upon review of the literature, 26 cases of MMIHS have been previously reported of which only
Vintzileos, A M, Eisenfeld, L I, Lodeiro, J G, Ingardia, C J, Herson, V C, Feinstein, S J   +5 more
core   +1 more source

Megacystis-microcolon-intestinal hypoperistalsis syndrome: a case report.

, 2004
Item does not contain fulltextMegacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disorder characterized by a dilated, non-obstructive urinary bladder and hypoperistalsis of the gastrointestinal tract, which is ...
Wijnen, R.M.H., Verbruggen, S.C., Berg, P. van den, van den Berg, P., Verbruggen, S. C.A.T.; id_orcid, Wijnen, R. M.H.   +5 more
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Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Gene Mutation was Detected: A Case Report

, 2018
Introduction: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is characterized by bladder distension without urinary tract obstruction, decreased or absent intestinal peristalsis and microcolon.
Cengiz Güney, Yavuz, Amine, Elif Ünver Korğalı, Guney, Cengiz, ÇAĞLAR ŞİMŞEK, CEMİLE ECE, Cemile Ece Çağlar Şimşek, Korgali, Elif Unver, Amine Yavuz, Baser, Burak, Burak Başer, Hatice Özer, Egilmez, Hatice Reyhan, Hatice Reyhan Eğilmez, Simsek, Cemile Ece Caglar, Kurtulgan, Hande Kucuk, Atalar, Mehmet Haydar, Korgali, ELİF, Hande Küçük Kurtulgan, Ozer, Hatice, KÜÇÜK KURTULGAN, HANDE, Mehmet Haydar Atalar   +20 more
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Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: Report of a Rare Case in Newborn

Acta Medica Iranica, 2015
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare and the most severe form of functional intestinal obstruction in the newborn. The characteristic features of this congenital and fatal disease are abdominal distension, absent or
Saeid Tarlan, Abolfazl Mahyar, Victoria Chegini, Venus Chegini   +3 more
doaj  

Supplementary Material for: New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)

, 2017
Objective: To identify the molecular basis for prenatally suspected cases of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) (MIM 249210) in 3 independent families with clinical and radiographic evidence of MMIHS.
Miller R.S. (4152685), Li X. (3218241), Gonzalez K. (4152691), Wilson A. (4152694), Tuzovic L. (4152682), Rohena L. (4152700), Guo J. (4144114), Tang S. (4152697), Shahmirzadi L. (4152688), LeDuc C.A. (4152703)   +9 more
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Congenital Diseases of the Intestine [PDF]

, 2016
All research described in this dissertation is focused on understanding the pathophysiology of three rare congenital diseases of the intestine, including megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS), congenital short bowel syndrome ...
Halim, Danny, Halim, D. (Danny)
core   +1 more source

The Multidimensional Measure of Internalized HIV Stigma in English and Spanish: Measurement Invariance and other Psychometric Properties [PDF]

, 2011
Efforts to increase the quality of life of people living with HIV/AIDS (PLWHA) as well as prevention efforts have recently focused on HIV-related stigma. Sayles et al.
Martin, Elsa
core   +2 more sources

Visceral myopathy in a newborn mimicking Hirschprung’s disease: a case report

Journal of Rare Diseases
Visceral myopathy is a rare smooth muscle disorder with highly variable clinical manifestations characterized by chronic gastrointestinal and urinary dysfunction. Studies over the years have partially unraveled the underlying mechanisms and pathogenesis,
Wassim Hamadeh, Rony Sayad
doaj   +1 more source