Results 51 to 60 of about 174,731 (293)

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

Can Zika Account for the Missing Babies?

Frontiers in Public Health, 2017
The Zika virus (ZIKV) spread rapidly in Brazil in 2015 and 2016. Rio de Janeiro was among the Brazilian cities which were hit the hardest, with more that a hundred thousand confirmed cases up to the end of 2016.
Flávio Codeço Coelho, Margaret Armstrong, Valeria Saraceni, Cristina Lemos   +3 more
doaj   +1 more source

INFECTIONS OF THE NEWBORNS: ETIOLOGY AND EPIDEMIOLOGY [PDF]

Romanian Journal of Pediatrics, 2008
Infections are a frecvent and important cause of morbidity and mortality in the newborn period. Infections in the newborn infant may be required in utero (congenital), at the terme/or birth (perinatal), or after birth and during the neonatal period ...
Valeriu Popescu
doaj   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Anesthetic management of neonates undergoing diagnostic and therapeutic cardiac catheterization: a systematic literature review [PDF]

Revista Brasileira de Anestesiologia
Background: Several interventional cardiology procedures are required in neonates with congenital heart disease. Interventional cardiology procedures have a higher risk of cardiac arrest compared to other interventions.
Lina M. Valencia-Arango, Angélica P. Fajardo-Escolar, Juan C. Segura-Salguero, Santiago Sáenz-Quispe, Carolina Rincón-Restrepo, Adriana Posada, Vivian Ronderos, Ana H. Perea-Bello   +7 more
doaj   +4 more sources

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian, Peter Auguste, Amy Grove, Anna Brown, Janette Parr, Mubarak Patel, Furqan Butt, Jeremiah Donoghue, Mehdi Yousefi, Jo Parsons   +9 more
wiley   +1 more source

Evaluation of the Efficacy and Safety of Satralizumab in a Pregnant NMOSD Patient With AQP4/MOG‐IgG Dual Seropositive: A Case Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Neuromyelitis Optica Spectrum Disorder (NMOSD) is a chronic autoimmune neuroinflammatory disease, typically characterized by antibodies against aquaporin 4 (AQP4‐IgG) or myelin oligodendrocyte glycoprotein (MOG‐IgG). Simultaneous seropositivity for both antibodies in a single patient is exceedingly rare.
Yeting Luo, Shuhua Xie, Xianghong Liu
wiley   +1 more source

Neonatal screening: 9% of children with filter paper thyroid‐stimulating hormone levels between 5 and 10 μIU/mL have congenital hypothyroidism

Jornal de Pediatria (Versão em Português), 2017
Objectives: To determine the prevalence of congenital hypothyroidism in children with filter paper TSH levels (f‐TSH) between 5 and 10 μUI/mL in the neonatal screening. Methods: This was a retrospective study including children screened from 2003 to 2010,
Flávia C. Christensen‐Adad, Carolina T. Mendes‐dos‐Santos, Maura M.F. Goto, Letícia E. Sewaybricker, Lília F.R. D'Souza‐Li, Gil Guerra‐Junior, André M. Morcillo, Sofia Helena V. Lemos‐Marini   +7 more
doaj   +1 more source

Economics of tandem mass spectrometry screening of neonatal inherited disorders [PDF]

, 2006
Objectives: The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). Methods: A systematic review
Beverley, C., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
core   +1 more source

Hydrocolloid‐Based Multiwavelength Stretchable QD‐OLED Patch for Simultaneous Neonatal Jaundice and Dermatitis Treatment with Biosignal Monitoring

Advanced Healthcare Materials, EarlyView.
Comparison of therapeutic and diagnostic applications of a surface‐emitting light source with multiwavelength emission characteristics. Abstract Conventional light‐emitting‐diode‐based light sources suffer from rigidity, localized heating, and poor adaptability to skin deformation, limiting their use in skin‐attached medical devices.
In Ho Kim, Young Woo Kim, Jae‐Young Jeong, Ye Ji Shin, Chaeyeong Lee, Jae Gyun Choi, Oh Kwan Kwon, Kyoung Hwa Kim, Sang Jik Kwon, Eou‐Sik Cho, Yongmin Jeon   +10 more
wiley   +1 more source