Results 81 to 90 of about 87,727 (384)

Congenital microcephaly unrelated to flavivirus exposure in coastal Kenya [version 1; peer review: 2 approved, 1 approved with reservations]

Wellcome Open Research, 2019
Background: Zika virus (ZIKV) was first discovered in East Africa in 1947.  ZIKV has caused microcephaly in the Americas, but it is not known whether ZIKV is a cause of microcephaly in East Africa.
Hellen C. Barsosio, John N. Gitonga, Henry K. Karanja, Doris K. Nyamwaya, Donwilliams O. Omuoyo, Everlyn Kamau, Mainga M. Hamaluba, Joyce U. Nyiro, Barnes S. Kitsao, Amek Nyaguara, Stella Mwakio, Charles R. Newton, Rosemary Sang, Daniel Wright, Eduard J. Sanders, Anna C. Seale, Charles N. Agoti, James A. Berkley, Philip Bejon, George M. Warimwe   +19 more
doaj   +1 more source

Bounding bias due to selection

, 2019
When epidemiologic studies are conducted in a subset of the population, selection bias can threaten the validity of causal inference. This bias can occur whether or not that selected population is the target population, and can occur even in the absence ...
Smith, Louisa H., VanderWeele, Tyler J.
core   +1 more source

A Novel DNA Repair Disorder With Thrombocytopenia, Nephrosis, and Features Overlapping Cockayne Syndrome [PDF]

, 2009
We report on four siblings with Cockayne-like syndrome with thrombocytopenia and nephrotic syndrome. The parents were healthy and consanguineous, consistent with an autosomal recessive mode of disease inheritance.
Cockayne, Funaki, Hirooka, Kruglyak, Lehmann, Lehmann, Mallery, Mayne, Nance, Reiss, Sato, Tan   +11 more
core   +3 more sources

CLCN4‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett, Vera M. Kalscheuer, Rebeca Ridings Figueroa, Elizabeth E. Palmer, Angela T. Morgan   +4 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

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi, Silvia Pontesilli, Laura Demelas, Francesca Vigliani, Massimo Agosti, Angelo Selicorni   +5 more
wiley   +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

Accelerated Evolution of the ASPM Gene Controlling Brain Size Begins Prior to Human Brain Expansion [PDF]

, 2004
Primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by global reduction in cerebral cortical volume. The microcephalic brain has a volume comparable to that of early hominids, raising the possibility that some MCPH genes may have ...
Abeysinghe, Aota, Benson, Bernardi, Bond, Bond, Chen, Chenn, Chuzhanova, Clark, Crandall, Dewyse, do Carmo Avides, Duret, Endo, Evans, Galtier, Gould, Hughes, Jurka, Kent, Kouprina, Kreitman, McCreary, McDonald, Mochida, Morgenstern, Noskov, Polushin, Rehen, Riparbelli, Ripoll, Roberts, Rudiger, Sharp, Sharp, Tobias, Wood, Yang, Yang, Zhang   +40 more
core   +3 more sources

Blocking Zika virus vertical transmission. [PDF]

, 2018
The outbreak of the Zika virus (ZIKV) has been associated with increased incidence of congenital malformations. Although recent efforts have focused on vaccine development, treatments for infected individuals are needed urgently. Sofosbuvir (SOF), an FDA-
Beltrão-Braga, Patricia CB, Corbett, Kevin D, Cugola, Fernanda R, Fernandes, Isabella R, Herai, Roberto H, Huang, Chun-Teng, Kolar, Matthew J, Macia, Angela, Mesci, Pinar, Momper, Jeremiah D, Montefusco, Sandro, Moore, Spencer M, Muotri, Alysson R, Pinto, Antonella, Rosenberg, Scott C, Russo, Fabiele B, Saghatelian, Alan, Sheets, Nicholas, Shiryaev, Sergey A, Shresta, Sujan, Siqueira-Neto, Jair L, Suarez, Nicole A, Tejwani, Leon, Terskikh, Alexey V   +23 more
core   +2 more sources

RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

Nature Communications, 2020
Primary microcephaly (MCPH) is characterized by reduced brain size and intellectual disability. The exact pathophysiological mechanism underlying MCPH remains to be elucidated, but dysfunction of neuronal progenitors in the developing neocortex plays a ...
M. Farooq, L. Lindbæk, Nicolai Krogh, C. Doğanlı, Cecilie Keller, Maren Mönnich, A. B. Gonçalves, Srinivasan Sakthivel, Y. Mang, A. Fatima, V. Andersen, M. Hussain, H. Eiberg, L. Hansen, K. Kjaer, J. Gopalakrishnan, L. B. Pedersen, K. Møllgård, H. Nielsen, S. Baig, N. Tommerup, S. Christensen, L. Larsen   +22 more
semanticscholar   +1 more source