Results 51 to 60 of about 2,257,975 (340)

A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia

BMC Medical Genetics, 2018
Background Non-ketotic hyperglycinemia (NKH) is a rare, devastating autosomal recessive disorder of glycine metabolism with a very poor prognosis. Currently, few studies have reported genetic profiling of Chinese NKH patients.
Yiming Lin, Zhenzhu Zheng, Wenjia Sun, Qingliu Fu   +3 more
doaj   +1 more source

Invasive Obstetric Procedures and Cesarean Sections in Women With Known Herpes Simplex Virus Status During Pregnancy. [PDF]

, 2017
BackgroundNeonatal herpes is a potentially devastating infection that results from acquisition of herpes simplex virus (HSV) type 1 or 2 from the maternal genital tract at the time of vaginal delivery.
Drolette, Linda, Gardella, Carolyn, Laschansky, Ellen, Magaret, Amalia S, Moss, Nicholas J, Selke, Stacey, Stankiewicz Karita, Helen C, Wald, Anna   +7 more
core   +1 more source

Neonatal Screening and the Clinical Outcome in Children with Sickle Cell Disease in Central India

PLoS ONE, 2016
Background Sickle cell disease (SCD) is a major health burden in India. The objective of the study was to establish a neonatal screening program and to understand the clinical course of children with SCD in central India.
D. Upadhye, D. Jain, Yogesh Trivedi, A. Nadkarni, K. Ghosh, R. Colah   +5 more
semanticscholar   +1 more source

Characteristics of Cerebral Palsy in the Midwestern US

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cerebral palsy (CP) is the most common lifelong motor disability worldwide. Yet, data is limited on how CP manifests in the US. Our objective was to characterize and determine factors affecting functional outcomes in a large population of young people with CP in the Midwestern US.
Susie Kim, Kelsey Steffen, Lauren Gottschalk‐Henneberry, Jennifer Miros, Amy Robichaux‐Viehoever, Karen Taca, Bhooma R. Aravamuthan   +6 more
wiley   +1 more source

Reliability of Neonatal Screening Results

International Journal of Neonatal Screening, 2018
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M. Knapkova, K. Hall, G. Loeber
semanticscholar   +1 more source

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

Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening

Frontiers in Genetics, 2019
Short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) is an autosomal recessive disorder of impaired isoleucine catabolism caused by mutations in the ACADSB gene.
Yiming Lin, Hongzhi Gao, Chunmei Lin, Yanru Chen, Shuang Zhou, Weihua Lin, Zhenzhu Zheng, Xiaoqing Li, Min Li, Qingliu Fu   +9 more
doaj   +1 more source

Genetic regulation of spermine oxidase activity and cancer risk: a Mendelian randomization study

Scientific Reports, 2021
Spermine oxidase (SMOX) catalyzes the oxidation of spermine to spermidine. Observational studies have reported SMOX as a source of reactive oxygen species associated with cancer, implying that inhibition of SMOX could be a target for chemoprevention ...
João Fadista, Victor Yakimov, Urmo Võsa, Christine S. Hansen, Silva Kasela, Line Skotte, Frank Geller, Julie Courraud, Tõnu Esko, Viktorija Kukuškina, Alfonso Buil, Mads Melbye, Thomas M. Werge, David M. Hougaard, Lili Milani, Jonas Bybjerg-Grauholm, Arieh S. Cohen, Bjarke Feenstra   +17 more
doaj   +1 more source

Neonatal cytokines and chemokines and risk of Autism Spectrum Disorder: the Early Markers for Autism (EMA) study: a case-control study. [PDF]

, 2014
BackgroundBiologic markers of infection and inflammation have been associated with Autism Spectrum Disorders (ASD) but prior studies have largely relied on specimens taken after clinical diagnosis.
Ashwood, Paul, Croen, Lisa A, Delorenze, Gerald N, Grether, Judith K, Hansen, Robin L, Kharrazi, Marty, Van de Water, Judy, Yoshida, Cathleen, Zerbo, Ousseny   +8 more
core   +3 more sources

Prediction of Myasthenia Gravis Worsening: A Machine Learning Algorithm Using Wearables and Patient‐Reported Measures

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare disorder characterized by fluctuating muscle weakness with potential life‐threatening crises. Timely interventions may be delayed by limited access to care and fragmented documentation. Our objective was to develop predictive algorithms for MG deterioration using multimodal telemedicine data ...
Maike Stein, Haoqi Sun, Sophie Lehnerer, Lea Gerischer, Maximilian Mönch, Christian Meisel, Andreas Meisel, Pushpa Narayanaswami   +7 more
wiley   +1 more source