Results 61 to 70 of about 37,506 (300)

A new insight into the definition of microcephaly in Zika congenital syndrome era

Cadernos de Saúde Pública, 2021
: This study aimed to compare the anthropometric measurements and body proportionalities of neonates born before the Zika virus epidemic with those born during this period. We compared 958 neonates born during the pre-Zika epidemic with 264 neonates born
Fabiana Cristina Lima da Silva Pastich Gonçalves, Marília de Carvalho Lima, Ricardo Arraes de Alencar Ximenes, Demócrito de Barros Miranda-Filho, Celina Maria Turchi Martelli, Laura Cunha Rodrigues, Wayner Vieira de Souza, Pedro Israel Cabral de Lira, Sophie Helena Eickmann, Thalia Velho Barreto Araújo   +9 more
doaj   +1 more source

Optimal Control of Microcephaly Under Vertical Transmission of Zika [PDF]

Axioms 13 (2024), no. 11, Art. 772, 14pp
The Zika virus, known for its potential to induce neurological conditions such as microcephaly when transmitted vertically from infected mothers to infants, has sparked widespread concerns globally. Motivated by this, we propose an optimal control problem for the prevention of vertical Zika transmission.
arxiv   +1 more source

Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome

Human Mutation, Volume 43, Issue 12, Page 1866-1871, December 2022., 2022
Abstract Galloway–Mowat syndrome (GAMOS) is a very rare condition characterized by early‐onset nephrotic syndrome and microcephaly with variable neurologic features. While considerable genetic heterogeneity of GAMOS has been identified, the majority of cases are caused by pathogenic variants in genes encoding the four components of the Kinase ...
Ernestine Treimer, Tugba Kalayci, Sven Schumann, Ilknur Suer, Sara Greco, Denny Schanze, Michael J. Schmeisser, Susanne J. Kühl, Martin Zenker   +8 more
wiley   +1 more source

The effect of growth hormone treatment in children with novel BPTF gene variants: A report of two cases and literature review

Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023
In this report, we described two cases of NEDDFL caused by novel variants (NM_004459.6: c.1133G>A, c.5941delC) in BPTF gene. Both children had short stature and responded to recombinant human growth hormone treatment ‐ the first report of this therapy in NEDDFL patients.
Wenyong Wu, Ruimin Chen
wiley   +1 more source

The association between Zika virus infection and microcephaly in Brazil 2015-2017: An observational analysis of over 4 million births.

PLoS Medicine, 2019
BACKGROUND:In 2015, high rates of microcephaly were reported in Northeast Brazil following the first South American Zika virus (ZIKV) outbreak. Reported microcephaly rates in other Zika-affected areas were significantly lower, suggesting alternate causes
Oliver J Brady, Aaron Osgood-Zimmerman, Nicholas J Kassebaum, Sarah E Ray, Valdelaine E M de Araújo, Aglaêr A da Nóbrega, Livia C V Frutuoso, Roberto C R Lecca, Antony Stevens, Bruno Zoca de Oliveira, José M de Lima, Isaac I Bogoch, Philippe Mayaud, Thomas Jaenisch, Ali H Mokdad, Christopher J L Murray, Simon I Hay, Robert C Reiner, Fatima Marinho   +18 more
doaj   +1 more source

Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49–51 deletion phenotype

Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023
This manuscript summarizes a case of biallelic dystrophin (DMD) variants in a mildly affected female patient and additionally highlights the phenotypic spectrum of one of the patient's two DMD variants, a deletion of exons 49–51. This deletion previously had few reports in the published literature, despite its frequency within our institution's ...
Elizabeth A. Ulm, Chinmayee B. Nagaraj, Cuixia Tian, Teresa A. Smolarek   +3 more
wiley   +1 more source

Baseline microcephaly prevalence in rural Guatemala: implications for neonatal screening for congenital Zika virus infection

The Lancet Global Health, 2017
Background: Microcephaly is the result of disturbance in early brain development and has various causes. Zika was identified in Central America in early 2015.
Anne-Marie Rick, MD, Gretchen Domek, MD, Maureen Cunningham, MD, Daniel Olson, MD, Molly Lamb, PhD, Andrea Jimenez-Zambrano, MPH, Gretchen Heinrichs, MD, Stephen Berman, MD, Edwin Asturias, MD   +8 more
doaj   +1 more source

Estimate of genetic variants using CNV‐Seq for fetuses with oligohydramnios or polyhydramnios

Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023
The overall detection rate of clinically significant findings was 8%, with 5.0% in the isolated group and 11.0% in non‐isolated group. Non‐isolated group especially oligohydramnios subgroup is inclined to obtained more pathogenicity genetic anomalies and to terminate their pregnancy outcome.
Panlai Shi, Yaqin Hou, Duo Chen, Huanan Ren, Yanjie Xia, Xiangdong Kong   +5 more
wiley   +1 more source

Microcephaly and Zika virus

Jornal de Pediatria, 2016
This episode on Yap Islandwas followed by others, in the Pacific Ocean region of Poly-nesia and in some Southeast Asian countries, with outbreaksconfirmed by serology or polymerase chain reaction (PCR)for the ZIKV on Easter Island, and in the Solomon Islands,the Cook Islands, Indonesia, Malaysia, Thailand, and FrenchPolynesia.
Oliveira, Consuelo Silva de, Vasconcelos, Pedro Fernando da Costa   +1 more
openaire   +6 more sources

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT P21‐activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)—a developmental disorder primarily characterized by ocular anomalies ...
Elizabeth A. Werren, Louisa Kalsner, Jessica M. Ewald, Michael Peracchio, Cameron King, Purva Vats, Peter A. Audano, Peter N. Robinson, Mark D. Adams, Melissa A. Kelly, Adam P. Matson   +10 more
wiley   +1 more source