نتایج جستجو برای: microcephaly
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To the Editor : Microcephaly is a condition which is defined by head circumference 3 SDs below the ageand sex-matched mean because of the reduced brain size (1, 2). Affected individuals suffer intellectual disability (ID) from mild to severe with any abnormalities or dysmorphic features. (1, 2). So far, eight autosomal recessive primary microcephaly (MCPH ) loci (MCPH1–MCPH8) have been mapped a...
crouzon syndrome is a rare genetic disorder inherited in autosomal dominant pattern with complete penetration and variable expressivity. its most notable characteristic feature is premature synostosis of cranial sutures the case presented is of a 4 yr old boy with box like head with microcephaly, protuberant eyes, hydrocephalus, low visual acquity diagnosed as a case of crouzon syndrome after c...
Zika virus infection emerged as a public health emergency after increasing evidence for its association with neurologic disorders and congenital malformations. In Salvador, Brazil, outbreaks of acute exanthematous illness (AEI) attributed to Zika virus, Guillain-Barré syndrome (GBS), and microcephaly occurred in 2015. We investigated temporal correlations and time lags between these outbreaks t...
Zika virus (ZIKV) has evolved into a global health threat because of its unexpected causal link to microcephaly. Phylogenetic analysis reveals that contemporary epidemic strains have accumulated multiple substitutions from their Asian ancestor. Here we show that a single serine-to-asparagine substitution [Ser139→Asn139 (S139N)] in the viral polyprotein substantially increased ZIKV infectivity i...
a a i o c w n c f t P s i s t t c e The original isolation of the Zika virus (ZIKV), a Flavivirus member of the Flaviviridae family, was obtained in 1947 from the blood of a febrile rhesus monkey exposed at the Zika forest near Lake Victoria, in the outskirts of Entebbe, the capital of Uganda.1 ZIKV was also isolated from wild mosquitoes in the same area and later periodic human febrile cases w...
CARDIOVASCULAR DISORDERS cardiac congenital defects cardiopathy, congenital DERMATOLOGICAL DISORDERS cutis, dysplastic, not including ectodermal dysplasia cutis, aplasia, skin atrophy GENITAL DISORDERS genital dysfunctions hypogenitalism, hypogonadism; small testes, microorchidism, hypoplastic scrotum male genitalia, modifications not including ambiguity cryptorchidism JOINT DISORDERS joint, mo...
Microcephaly is a cortical malformation disorder characterized by an abnormally small brain. Recent studies have revealed severe cases of microcephaly resulting from human mutations in the NDE1 gene, which is involved in the regulation of cytoplasmic dynein. Here using in utero electroporation of NDE1 short hairpin RNA (shRNA) in embryonic rat brains, we observe cell cycle arrest of proliferati...
In early 2015, an outbreak of Zika virus, a flavivirus transmitted by Aedes mosquitoes, was identified in northeast Brazil, an area where dengue virus was also circulating. By September, reports of an increase in the number of infants born with microcephaly in Zika virus-affected areas began to emerge, and Zika virus RNA was identified in the amniotic fluid of two women whose fetuses had been f...
BACKGROUND Isolated sulfite oxidase deficiency (ISOD), caused by mutations in SUOX gene, is an autosomal recessive disease manifesting with early onset seizures, developmental delay, microcephaly, and spasticity. It mimics hypoxic-ischemic encephalopathy (HIE) the neonatal period characterized progressive severe neurological impairment due to accumulation of toxic metabolites. CASE This report ...
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