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microcephaly/ripuli
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Sivu 1 alkaen 16 tuloksia
Congenital myopathy, recurrent secretory diarrhea, bullous eruption of skin, microcephaly, and deafness: a new genetic syndrome?
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We describe three siblings with congenital myopathy, bullous eruption of the skin, secretory diarrhea, apparent zinc deficiency, failure to thrive, deafness, and microcephaly. The parents are not consanguineous and there are no other affected relatives. This new syndrome, which follows an apparent
[LIG4 syndrome: a report of four cases and literature review].
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Objective: To analyze clinical, immunological and genetic characteristics of 4 cases of LIG4 syndrome. Methods: We retrospectively analyzed the clinical data of 4 patients from 3 families with LIG4 syndrome who were admitted to Children's Hospital of the Capital Institute of Pediatrics
Evaluation of 98 immunocompetent children with cytomegalovirus infection: importance of neurodevelopmental follow-up.
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This study aims to analyze and evaluate the clinic and demographic features of immunocompetent children that have been diagnosed with cytomegalovirus (CMV) infection. The data of children diagnosed with CMV infection between January 2005 and December 2010 and their follow-ups for 2 years were
Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood.
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A homozygote missense mutation of the pseudouridylate synthase gene was found in an adult patient with chronic sideroblastic anemia, diarrhea, microcephaly and failure to thrive. Moderate muscle weakness occurred in adulthood (6-min walk distance at 26 years: 240 m, control range 380-782 m) but a
Origin of the Zika virus revealed: a historical journey across the world.
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BACKGROUND
Zika virus (ZIKV) is an arbovirus within the Flaviviridae family, the recent spread of which has promoted public concern.
METHODS
This study outlines the clinical features, potential for teratogenicity, diagnosis, and treatment of ZIKV infection.
RESULTS
Zika virus is transmitted through
Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors.
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The RNA exosome has a key role in RNA decays and RNA quality control. In 2012, two human Mendelian diseases: syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) and Ponto-cerebellar hypoplasia type 1(PCH1) were linked to the RNA exosome or its cofactor's defect. SD/THE's main features are an
First case of imported Zika virus infection in Spain.
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We report a case of Zika virus (ZIKV) infection in a patient with diarrhea, fever, synovitis, non-purulent conjunctivitis, and with discreet retro-orbital pain, after returning from Colombia in January 2016. The patient referred several mosquito bites. Presence of ZIKV was detected by PCR
Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt.
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Classic galactosemia is caused by deficiency of galactose-1-phosphate uridylyltransferase (GALT). It causes serious morbidity and mortality if left untreated. Screening for galactosemia is not included in Egyptian neonatal screening program. The study aimed to define clinical presentation and
Cerebrotendinous xanthomatosis (CTX): an association of pulverulent cataracts and pseudo-dominant developmental delay in a family with a splice site mutation in CYP27A1--a case report.
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OBJECTIVE
A 15-year-old boy with developmental delay presented to the pediatric ophthalmology clinic with bilateral pulverulent cataracts. The family was examined for developmental delay, cataracts and systemic problems.
METHODS
The parents were consanguineous and originally from Bangladesh. All the
Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation.
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SCID affects T and B cell differentiation and functions, presenting with severe opportunistic infections in the early postnatal period. It is fatal unless stem cell transplantation is performed. RS SCID forms are caused by defects in the NHEJ pathway, the enzymatic process required for the repair of
[The Dubowitz syndrome].
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A 27-month-old girl with Dubowitz syndrome, a rare autosomal recessive disorder, is presented. The diagnosis was established by a series of symptoms typical for this syndrome: intrauterine and postnatal growth retardation, microcephaly, recurrent diarrhea and respiratory infections, characteristic
The chasm between public health and reproductive research: what history tells us about Zika virus.
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Zika transmission from mother to fetus and its possible sexual transmission have become a media focus in the past months as a major public health concern. While mother-to-fetus transmission, fetal neurologic manifestations or sexual transmission have never been documented for this virus before,
An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment.
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Kasapkara ÇS, Yılmaz-Keskin E, Özbay-Hoşnut F, Akçaboy M, Polat E, Olgaç A, Zorlu P. An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment. Turk J Pediatr 2019; 61: 282-285. Functional methionine synthase deficiency can be
Viral contamination of fetal bovine serum used for tissue culture: risks and concerns.
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Four viral contaminants have been routinely detected in unprocessed and commercial lots of fetal bovine serum: bacteriophage, infectious bovine rhinotracheitis, parainfluenza-3 and bovine viral diarrhea virus (BVDV). Of those, BVDV is consistently present in a majority of commercial lots of fetal
Intracranial hemorrhage due to vitamin K deficiency after the newborn period.
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This study presents clinical and laboratory findings and outcome of infants with intracranial hemorrhage (ICH) due to vitamin K deficiency after the newborn period, and evaluates vitamin K prophylaxis. The hospital records of 19 infants with a diagnosis of ICH due to vitamin K deficiency after the
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