نتایج جستجو برای: microcephaly
تعداد نتایج: 3104 فیلتر نتایج به سال:
Microtubules play a crucial role in the generation, migration and differentiation of nascent neurons in the developing vertebrate brain. Mutations in the constituents of microtubules, the tubulins, are known to cause an array of neurological disorders, including lissencephaly, polymicrogyria and microcephaly. In this study we explore the genetic and cellular mechanisms that cause TUBB5-associat...
Brazil hasexperienced one of the highest levels of zika incidence transmitted by “Aedesaegypti” with 2,106 of microcephaly cases confirmed in metropolitan areas where almost 80% of the population lives. In the last year, the World Health Organization (WHO) has raised alarm about the distribution and severity of microcephaly caused by zika. Social and environmental determinants have a strong inf...
In 1927 Fanconi described under the title 'familial pericious-like anaemia in children' three brothers with fatal refractory anaemia associated with pigmentation of the skin, testicular atrophy, microcephaly, underdevelopment, squint, and increased tendon jerks. In the same paper he reported a case with muscular dystrophy, pigmentation, testicular hypoplasia, microcephaly, and anaemia of a simi...
BACKGROUND To identify the genetic defect associated with autosomal recessive congenital cataract (ARCC), mental retardation (MR) and ARCC, MR and microcephaly present in most patients in four Tunisian consanguineous families. METHODS We screened four genes implicated in congenital cataract by direct sequencing in two groups of patients; those affected by ARCC associated to MR and those who p...
BACKGROUND Zika virus is an arthropod-borne virus that is a member of the family Flaviviridae transmitted mainly by mosquitoes of the genus Aedes. Although usually asymptomatic, infection can result in a mild and self-limiting illness characterised by fever, rash, arthralgia, and conjunctivitis. An increase in the number of children born with microcephaly was noted in 2015 in regions of Brazil ...
PRUNE syndrome, or neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (OMIM#617481), is a new rare autosomal recessive neurodevelopmental disease that is caused by homozygous or compound heterozygous mutation in PRUNE1 on chromosome 1q21. Here, We report on 12-month-old and 30-month-old girls from 2 unrelated Saudi families with typical presentations of PRUNE...
Zika virus (ZIKV) infection during pregnancy has been linked to birth defects, yet the magnitude of risk remains uncertain. A study of the Zika outbreak in French Polynesia estimated that the risk of microcephaly due to ZIKV infection in the first trimester of pregnancy was 0.95% (95% confidence interval: 0.34-1.91%), based on eight microcephaly cases identified retrospectively in a population ...
Zika virus is an emergent flavivirus transmitted by Aedes genus mosquitoes that recently reached the Americas and was soon implicated in an increase of microcephaly incidence. The objective of the present study is to systematically review the published data and perform a meta-analysis to estimate the prevalence of microcephaly in babies born to Zika virus-infected women during pregnancy. We sea...
BACKGROUND Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and lymphedema. It can be sporadic or inherited. Eighty-seven patients have been described to carry a mutat...
BACKGROUND The microcephaly epidemic, which started in Brazil in 2015, was declared a Public Health Emergency of International Concern by WHO in 2016. We report the preliminary results of a case-control study investigating the association between microcephaly and Zika virus infection during pregnancy. METHODS We did this case-control study in eight public hospitals in Recife, Brazil. Cases we...
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