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Mostrando ítems 251-260 de 632
Padrões intergeracionais de violência familiar associada ao abuso de bebidas alcoólicas: um estudo baseado em genogramas
(Universidade Federal do Rio Grande do Sul, 2014-01-01)
The objective of this study was to analyze intergenerational patterns of alcohol related violence (ARV). An intentional sample comprising 42 family members was selected according to a set of criteria, including history of ...
Stone Yards, Open Fields and Sacred Places. Memories of Relatedness in Chubut´s Central PlateauCorrales de piedra, campos abiertos y pampas del camaruco. Memorias de relacionalidad en la meseta central del Chubut
(Sección Etnohistoria, Instituto de Ciencias Antropológicas. FFyL, UBA, 2008)
Variables Epidemiológicas de la Mucopolisacaridosis en el Cantón Archidona, Hospital José María Velasco Ibarra, Período 2017-2018
(Escuela Superior Politécnica de Chimborazo, 2019-10-10)
This study aimed to characterize the epidemiological variables of mucopolysaccharidosis in Archidona canton, Napo province, in the 2017-2018 period. The type of research applied was descriptive, retrospective, cross-sectional, ...
Dental Morphological Markers as a Proxy for Ethnicity in Robinson Crusoe Islanders
(Sociedad Chilena de Anatomía, 2015)
Chilean Robinson Crusoe Island is a semi-isolated location with unusually high rates of both consanguinity and
language disorder. The current population of 633 inhabitants is descended almost exclusively from the colonization ...
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation
(2016)
Background Infantile-onset encephalopathy and hypertrophic cardiomyopathy caused by mitochondrial oxidative phosphorylation defects are genetically heterogeneous with defects involving both the mitochondrial and nuclear ...
Central hypocortisolism as part of combined pituitary hormone deficiency due to mutations of PROP-1 gene
(Bio Scientifica Ltd, 2000-09-01)
Background One of the causes of combined pituitary hormone deficiency (CPHD) is represented by Prophet of Pit-1 (PROP-1) gene inactivating mutations. This disorder is generally characterized by GH, TSH, prolactin (PRL), ...
Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome
(Wiley-Blackwell, 2011-05-01)
Wolcott-Rallison syndrome (WRS, OMIM 226980) is a rare autosomal recessive disorder characterized by permanent neonatal diabetes mellitus, epiphyseal dysplasia, and other multisystemic clinical manifestations. We described ...
Relación entre consanguinidad y patologías en el Departamento Calingasta, provincia de San Juan
(Sociedad Argentina de Estudios Geográficos, 2014-10)
El objetivo de este artículo es detectar prácticas endogámicas-consanguíneas en el departamento Calingasta de la provincia de San Juan y relacionarlas con patologías de fuerte carga genética a través de su localización ...
Las doncellas de dote matrimoniales por lazos familiares y afectivos en tres hospitales sevillanos en el antiguo régimen
(Departamento de Historia. Universidad Católica Argentina, 2018)
Las familias hidalgas protegieron al excedente femenino de sus linajes, destinando
a ese fin voluntades testamentarias, algunas de las cuales se mantuvieron por siglos.
Sin embargo, también acogieron a otras hidalgas en ...
Deficiency of the human complement regulatory protein factor H associated with low levels of component C9
(WILEY-BLACKWELL, 2008)
We identified a 4-year-old Brazilian boy from a family of Japanese descent and history of consanguinity, who suffered from severe recurrent pneumonia. He carries factor H (FH) deficiency associated with reduced levels of ...