Results 131 to 140 of about 36,492 (239)

Public Health Implications of High Cytomegalovirus Seroprevalence in Pregnancy: A Cross‐Sectional Study in Western Uganda

Public Health Challenges, Volume 5, Issue 2, June 2026.
Among immediate postpartum women in western Uganda, maternal CMV seroprevalence was high (81.2%) and was predominantly chronic or non‐primary infection. Older age, rural residence, lower education, and prior spontaneous abortion were associated with seropositivity, supporting targeted maternal CMV education and evaluation of context‐appropriate ...
Bashir Mohamed Naima, Marie Pascaline Sabine Ishimwe, Theodore Nteziyaremye, Jean de Dieu Rukamba, Musa Kasujja, Theoneste Hakizimana   +5 more
wiley   +1 more source

Deciphering the Impact of RAC1‐SPTAN1 in ARPKD Cystogenesis Using Multifaceted Models

Advanced Science, Volume 13, Issue 25, 4 May 2026.
Distal/connecting tubules expressing SLC8A1 have been suggested as a potential origin of ARPKD cysts. SPTAN1 has been identified as a key molecule in ARPKD cyst formation. Restoring SPTAN1 in PKHD1−/− organoids reduced cyst formation, normalized calcium levels, and decreased RAC1/c‐FOS expression, highlighting SPTAN1's role in ARPKD and the potential ...
Shohei Kuraoka, Yuhei Higashi, Suguru Saito, Solmaz Pourgonabadi, Honami Honjoh, Sho Ishigaki, Peter C. Harris, Lisa M. Satlin, Michifumi Yamashita, Ryuji Morizane   +9 more
wiley   +1 more source

Expanding the phenotype of CARS1 variants to include congenital hyperinsulinism

BMC Medical Genomics
Background CARS1 loss of function compound heterozygous or homozygous variants have been reported in five individuals to cause a neurodevelopmental phenotype that includes microcephaly and brittle hair and nails.
Victoria R. Sanders, Andrew C. Edmondson, Albert C. Yan, Diva D. De Leon   +3 more
doaj   +1 more source

Mathematical modeling of Zika disease in pregnant women and newborns with microcephaly in Brazil

, 2017
We propose a new mathematical model for the spread of Zika virus. Special attention is paid to the transmission of microcephaly. Numerical simulations show the accuracy of the model with respect to the Zika outbreak occurred in Brazil.Comment: This is a ...
Area, Ivan, Ndairou, Faical, Nieto, Juan J., Silva, Cristiana J., Torres, Delfim F. M.   +4 more
core   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 993-1003, May 2026.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Diverse Genetic Etiologies of Unilateral Polymicrogyria

Annals of Neurology, Volume 99, Issue 5, Page 1277-1286, May 2026.
Objective Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.
Abbe Lai, Jennifer E. Neil, Shyam K. Akula, Dina Amrom, Eva Andermann, Ann Bergin, Roberto Caraballo, Allen Y. Chen, John Gaitanis, Ganeshwaran H. Mochida, Jill M. Gotoff, Giorgi Kuchukhidze, Daphna Marom, Christelle Moufawad ElAchkar, Miriam Regev, Lance H. Rodan, Heather Olson, Bo Zhang, Annapurna Poduri, Diane D. Shao, Christopher A. Walsh, Edward Yang   +21 more
wiley   +1 more source

A novel case of autosomal recessive CARD11 loss‐of‐function underlying impaired antiviral immunity and a review of literature

Clinical &Translational Immunology, Volume 15, Issue 5, 2026.
We report on a patient homozygous for a novel autosomal recessive loss‐of‐function CARD11 variant, with susceptibility to live attenuated virus (LAV) vaccines and impaired clearance of multiple naturally acquired respiratory viral infections. Inborn errors of immunity affecting the CARD11‐BCL10‐MALT1 (CBM) complex should be considered in individuals ...
Hamish Anderson, Cecilia Verryt, Paula Keating, Thomas Saunders, Samuel Dalton, Barry D Hock, Liping Goddard, Kylie Drake, Anja Werno, John O'Donnell, Jeffrey R Stinson, Andrew L Snow, Kuang‐Chih Hsiao   +12 more
wiley   +1 more source

Associations of DNA Methylation Mortality Risk Markers with Congenital Microcephaly from Zika Virus: A Study of Brazilian Children Less than 4 Years of Age. [PDF]

J Trop Pediatr, 2021
Nwanaji-Enwerem JC, Laan LV, Avakame EF, Scott KA, Burris HH, Cardenas A.   +5 more
europepmc   +1 more source

Вроджений Zika синдром [PDF]

, 2017
Zika вірусна інфекція – актуальна проблема сьогодення, що має значні негативні наслідки у вагітних жінок. Вроджений Zika синдром характеризується в першу чергу мікроцефалією, аномаліями розвитку, порушенням зору і слуху.Zika virus infection is among ...
Vyzhga, Iu., Zvenigorodska, G.
core  

Epilepsy in Chinese Children With Mowat–Wilson Syndrome: Two Case Reports and Literature Review

Journal of Paediatrics and Child Health, EarlyView.
Xuelin Huang, Dongling Yang, Jinqiu Wang, Qingqing Zhao, Yuyi Chen, Fengping Wei, Yiyan Ruan   +6 more
wiley   +1 more source