Results 71 to 80 of about 87,727 (384)

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Socioeconomic disparities associated with symptomatic Zika virus infections in pregnancy and congenital microcephaly: A spatiotemporal analysis from Goiânia, Brazil (2016 to 2020).

PLoS Neglected Tropical Diseases, 2022
The Zika virus (ZIKV) epidemic, which was followed by an unprecedented outbreak of congenital microcephaly, emerged in Brazil unevenly, with apparent pockets of susceptibility.
Luiza Emylce Pela Rosado, Erika Carvalho de Aquino, Elizabeth Bailey Brickley, Divania Dias da Silva França, Fluvia Pereira Amorim Silva, Vinicius Lemes da Silva, Angela Ferreira Lopes, Marilia Dalva Turchi   +7 more
doaj   +1 more source

DNM1 encephalopathy: A new disease of vesicle fission. [PDF]

, 2017
ObjectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling ...
Campbell, Colleen A, Cervenka, Mackenzie C, Cilio, Maria R, Cohen, Julie S, Dlugos, Dennis J, Epi4K Consortium, EuroEPINOMICS-RES NLES Working Group, Fatemi, Ali, Helbig, Ingo, Helbig, Katherine L, Hernandez-Hernandez, Laura, Hollingsworth, Georgie, Huether, Robert, Joshi, Charuta N, Kaplan, Richard A, Kirsch, Heidi, Kolbe, Diana L, Lawson, John A, Littlejohn, Rebecca, Lourenço, Charles, Maher, Bridget, McClellan, Rebecca, McLean, Scott D, Muhle, Hiltrud, Møller, Rikke S, Neubauer, Bernd A, Nunes, Mark E, Palmer, Elizabeth, Pena, Sérgio DJ, Pendziwiat, Manuela, Sagawa, Yoshimi, Sarco, Dean P, Scheffer, Ingrid E, Shinde, Deepali N, Sisodiya, Sanjay M, Slavotinek, Anne, Stephani, Ulrich, von Spiczak, Sarah, Yuen, Amy   +38 more
core   +2 more sources

Association Between Congenital Cytomegalovirus and the Prevalence at Birth of Microcephaly in the United States.

JAMA pediatrics, 2020
Importance Congenital cytomegalovirus (cCMV) has received far less clinical and public health attention as a teratogenic infection than the Zika virus epidemic.
Chelsea J Messinger, M. Lipsitch, B. Bateman, M. He, K. Huybrechts, S. MacDonald, H. Mogun, Katrina Mott, S. Hernández-Díaz   +8 more
semanticscholar   +1 more source

Perfusable Brain Microvascular Network‐On‐Chip Model to Study Flavivirus NS1‐Induced Endothelial Dysfunction

Advanced Functional Materials, EarlyView.
This study presents a microfluidic brain microvascular network‐on‐chip (BMVasChip) to investigate endothelial barrier dysfunction caused by flavivirus non‐structural protein 1 (NS1), including virus‐ and time‐dependent vascular damage, leakiness, and dysfunction.
Monika Rajput, Yen‐Ting Tung, Yu‐Chi Chen, Min Jae Song, Marc Ferrer, Emily M. Lee   +5 more
wiley   +1 more source

ETIOLOGY, DIAGNOSIS, AND MANAGEMENT OF CHILDHOOD MICROCEPHALY: A SINGLE-CENTER RETROSPECTIVE STUDY

Malang Neurology Journal, 2022
Background: Microcephaly is a condition that causes a reduction in brain volume as well as cognitive and motor impairments. It can be seen alone or in conjunction with a variety of genetic disorders and environmental factors.
Deniz Güven, Didem Ardıçlı, Dilek Sarıcı   +2 more
doaj   +1 more source

Is the United States Prepared for a Major Zika Virus Outbreak? [PDF]

, 2016
Zika virus has emerged as a global public health crisis with active transmission in the Americas and Caribbean. The World Health Organization (WHO) declared a Public Health Emergency of International Concern (PHEIC), and recently WHO reported there is a ...
Gostin, Lawrence O., Hodge, James G., Jr.   +1 more
core   +2 more sources

A Human Neural Tube Model Using 4D Self‐Folding Smart Scaffolds

Advanced Healthcare Materials, EarlyView.
Induced pluripotent stem cells (iPSCs) exhibit features comparable to the inner cell mass of the human embryo. iPSCs are applied to a novel self‐folding 4D‐Neural Tube (4D‐NT) structure that mimics the neurulation process. This 4D‐NT model recapitulates early events of human neural development and represents a platform to explore neurodevelopmental ...
Claudia Dell'Amico, Irene Chiesa, Angela Toffano, Alessio Esposito, Piera Mancini, Chiara Magliaro, Angeliki Louvi, Carmelo De Maria, Marco Onorati   +8 more
wiley   +1 more source

Zika virus infection and microcephaly: Evidence regarding geospatial associations. [PDF]

PLoS Neglected Tropical Diseases, 2018
BACKGROUND:Although the Zika virus (ZIKV) epidemic ceased to be a public health emergency by the end of 2016, studies to improve knowledge about this emerging disease are still needed, especially those investigating a causal relationship between ZIKV in ...
João Ricardo Nickenig Vissoci, Thiago Augusto Hernandes Rocha, Núbia Cristina da Silva, Rejane Christine de Sousa Queiroz, Erika Bárbara Abreu Fonseca Thomaz, Pedro Vasconcelos Maia Amaral, Adriana Lein, Maria Dos Remédios Freitas Carvalho Branco, José Aquino, Zulimar Márita Ribeiro Rodrigues, Antônio Augusto Moura da Silva, Catherine Staton   +11 more
doaj   +1 more source

Machine Learning‐Assisted Infectious Disease Detection in Low‐Income Areas: Toward Rapid Triage of Dengue and Zika Virus Using Open‐Source Hardware

Advanced Intelligent Discovery, EarlyView.
This study introduces an affordable machine learning platform for simultaneous dengue and zika detection using fluorine‐doped tin oxide thin films modified with gold nanoparticles and DNA aptamers. Designed for low‐cost, hardware‐limited devices (< $25), the model achieves 95.3% accuracy and uses only 9.4 kB of RAM, demonstrating viability for resource‐
Marina Ribeiro Batistuti Sawazaki, Bassam Bachour Junior, Marcelo Mulato, José Ilton de Oliveira Filho   +3 more
wiley   +1 more source