Results 91 to 100 of about 290,347 (229)

Diagnostic Yield of Brain MRI in Pediatric Short Stature: Hypothalamic–Pituitary Lesions and Incidental Findings in Real‐World Practice

Clinical Endocrinology, EarlyView.
ABSTRACT Background Brain MRI is widely performed in children with short stature or suspected growth hormone deficiency(GHD) to exclude hypothalamic–pituitary (HP) pathology, yet its diagnostic yield in routine practice is uncertain. We aimed to evaluate the prevalence, clinical significance, and distribution of HP and extrahypothalamic abnormalities ...
Mustafa Zubeidat, Tamer Sobeh, Shai Shrot   +2 more
wiley   +1 more source

Characteristics of Dysphagia in Infants with Microcephaly Caused by Congenital Zika Virus Infection, Brazil, 2015

Emerging Infectious Diseases, 2017
We summarize the characteristics of dysphagia in 9 infants in Brazil with microcephaly caused by congenital Zika virus infection. The Schedule for Oral Motor Assessment, fiberoptic endoscopic evaluation of swallowing, and the videofluoroscopic swallowing
Mariana C. Leal, Vanessa van der Linden, Thiago P. Bezerra, Luciana de Valois, Adriana C.G. Borges, Margarida M.C. Antunes, Kátia G. Brandt, Catharina X. Moura, Laura C. Rodrigues, Coeli R. Ximenes   +9 more
doaj   +1 more source

result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review

, 2023
Autosomal recessive microcephaly and chorioretinopathy-1 (MCCRP1) is a rare Mendelian disorder resulting from biallelic loss of function variants in Tubulin-Gamma Complex Associated Protein 6 (TUBGCP6, MIM#610053).
Zhu, Ying, Kimberly Glaser, Wentzensen, Ingrid MM, Santos, Francis Jeshira Reynoso, Thomas-Wilson, Amanda, Vink, Rebecca, Alesky Caffo, Lindsay B. Henderson, Alkhunaizi, Ebba, Chitayat, David, David Chitayat, Ying Zhu, Susan Blaser, Ebba Alkhunaizi, Costa, Fabricio da Silva, Blaser, Susan, Fabricio da Silva Costa, Laura Russell, Henderson, Lindsay BB, Elaine Maria Pereira, Glaser, Kimberly, Di Corleto, Ellen, John P. Schacht, Rebecca Vink, Schacht, John PP, Tony Roscioli, Francis Jeshira Reynoso Santos, Ingrid M. Wentzensen, Michael F. Buckley, Mythily Ganapathi, Ellen Di Corleto, Caffo, Alesky, Zhang, Futao, Amanda Thomas‐Wilson, Futao Zhang, et al.   +35 more
core   +1 more source

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

Clinical Genetics, EarlyView.
PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady, Hadar Hulin Ma'ayan, Michal Cohen, Karin Weiss   +3 more
wiley   +1 more source

Clinical spectrum of congenital Zika virus infection in Brazil: Update and issues for research development [PDF]

Revista da Sociedade Brasileira de Medicina Tropical
This review aimed to provide an update on the morphological and/or functional abnormalities related to congenital Zika virus (ZIKV) infection, based on primary data from studies conducted in Brazil since 2015.
Celina Maria Turchi Martelli, Fanny Cortes, Sinval Pinto Brandão-Filho, Marilia Dalva Turchi, Wayner Vieira de Souza, Thalia Velho Barreto de Araújo, Ricardo Arraes de Alencar Ximenes, Demócrito de Barros Miranda-Filho   +7 more
doaj   +1 more source

Pathogenicity of NUSAP1 Variants Is Defined by NMD‐Escape: Evidence From Two Novel Cases and Systematic Population‐Based Variant Analysis

Clinical Genetics, EarlyView.
Heterozygous de novo nonsense variants in the penultimate and last exons of NUSAP1 were identified in two unrelated individuals, predicted to escape NMD. In population data, nonsense variants were observed in exons 1–9 (of 11) in NUSAP1 but were absent from its 3′‐terminal region.
Maureen Jacob, Susann Badmann, Stefania Bigoni, Maria Iascone, Ilaria Vivaldi, Katharina Mayerhanser, Robert Kopajtich, Holger Prokisch, Cristina Forest, Sebastian Eck, Michael Zech, Elisabeth Graf, Matias Wagner, Juliane Winkelmann, Theresa Brunet, Melanie Brugger   +15 more
wiley   +1 more source

Cerebral Ventriculomegaly With Abnormality of the Aqueduct of Sylvius: A Case Series

Clinical Genetics, EarlyView.
Genetic testing leads to a diagnostic rate of ~30% in a fetal cohort with cerebral ventriculomegaly where the neuropathological examination revealed a stenosis or atresia of the aqueduct of Sylvius. ABSTRACT Fetal cerebral ventriculomegalies are brain anomalies with potentially poor neurodevelopmental prognosis.
Romain Nicolle, Laurence Loeuillet, Bettina Bessieres, Lucile Boutaud, Sarah Grotto, Nicolas Bourgon, Maryse Bonniere, Jelena Martinovic, Aude Tessier, Nathalie Roux, Giulia Petrilli, Naima Talhi, Marion Lesieur‐Sebellin, Jérémy Bertrand, Anaïs L'haridon, Aurélie Coussement, Marie‐Laure Maurin, Marie‐Paule Beaujard, Valérie Malan, Férechté Razavi, Tania Attie‐Bitach   +20 more
wiley   +1 more source

Zika Virus Potentiates the Development of Neurological Defects and Microcephaly: Challenges and Control Strategies

Frontiers in Neurology, 2019
Since the beginning of the Zika Virus (ZIKV) epidemic, thousands of cases presenting ZIKV symptoms were recorded in Brazil, Colombia (South America), French Polynesia and other countries of Central and North America.
Rabeea Siddique, Rabeea Siddique, Yang Liu, Yang Liu, Ghulam Nabi, Ghulam Nabi, Wasim Sajjad, Wasim Sajjad, Mengzhou Xue, Mengzhou Xue, Suliman Khan, Suliman Khan, Suliman Khan   +12 more
doaj   +1 more source

Expanding the Biochemical Phenotype of ReNU Syndrome: A Case Report

Clinical Genetics, EarlyView.
This report detailed the clinical findings and the biochemical phenotype of a 3‐year‐old girl with ReNU syndrome. Circulating biomarkers and a muscle biopsy s uggested mild mitochondrial abnormalities. Severe plasmalogen deficiency was also observed, comparable to defects of peroxisomal plasmalogen biosynthesis.
Irene De Biase, McKall Johnson, Qinwen Mao, Vanina L. Taliercio, Stacey L. Cole   +4 more
wiley   +1 more source

Underreporting of Fatal Congenital Zika Syndrome, Mexico, 2016–2017

Emerging Infectious Diseases, 2019
To determine completeness of fatal congenital Zika syndrome reporting in Mexico, we examined data from the Mexican National Institute of Statistics and Geography.
Victor M. Cardenas, Angel Jose Paternina-Caicedo, Ernesto Benito Salvatierra   +2 more
doaj   +1 more source