Results 71 to 80 of about 1,911,105 (391)

GABA Measurement in a Neonatal Fragile X Syndrome Mouse Model Using 1H-Magnetic Resonance Spectroscopy and Mass Spectrometry

Frontiers in Molecular Neuroscience, 2020
Fragile X syndrome (FXS) is the leading monogenetic cause of autism spectrum disorder and inherited cause of intellectual disability that affects approximately one in 7,000 males and one in 11,000 females.
Samantha T. Reyes, Sanaz Mohajeri, Karolina Krasinska, Scarlett G. Guo, Meng Gu, Laura Pisani, Jarrett Rosenberg, Daniel M. Spielman, Frederick T. Chin   +8 more
doaj   +1 more source

FAKTOR­-FAKTOR RISIKO TERJADINYA ASFIKSIA NEONATORUM DI RSD JOMBANG PERIODE 1 JANUARI ­- 31 DESEMBER 2007 [PDF]

, 2009
Neonatal Asphyxia is an emergency condition when the baby failed to breath spontaneously and regularly after they were born. Neonatal asphyxia remains the main cause of neonatal mortality as well as permanent neurological abnormality.
SUNDARI TIKA, TRI
core  

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

Differential Effects of Neonatal Testosterone Treatment on Aggression in Two Selection Lines of Mice [PDF]

, 1992
Selection lines of mice, artificially selected for aggression based upon the attack latency score (ALS), were used. In order to determine the relative contribution of neonatal testosterone (T) in the development of aggression, we vary the plasma-T level ...
Bohus, Béla,, Compaan, Josje C.,, Koolhaas, Jaap M.,, Oortmerssen, Geert A. van,, Ruiter, Anne J.H. de,   +4 more
core   +2 more sources

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

Parents' experiences of sharing neonatal information and decisions: Consent, cost and risk [PDF]

, 2005
This paper is about the care of babies with confirmed or potential neurological problems in neonatal intensive care units. Drawing on recent ethnographic research, the paper considers parents' experiences of sharing information and decisions with ...
Alderson, Priscilla, Hawthorne, Joanna, Killen, Margaret   +2 more
core   +2 more sources

Molecular Screening of SCN1A‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early ...
Jia Wang, Yang‐Yang Wang, Lin‐Yan Hu, Xiu‐Yu Shi, Wen He, Dan Sun, Baoguang Li, Xiaoming Liu, Sanqing Xu, Lijun Du, Chunhui Tang, Li‐Ping Zou   +11 more
wiley   +1 more source

Neonatal morbidity and mortality in a Rural Tertiary Hospital in Nigeria

CHRISMED Journal of Health and Research, 2018
Background: Nigeria is one of the greatest contributors to the neonatal morbidity and maternity worldwide. Objective: This study was undertaken to determine the morbidity and mortality pattern of the neonatal admission including the outcome.
Umma Idris Abdullahi
doaj   +1 more source

HUBUNGAN FAKTOR MATERNAL DAN PERAWATAN BAYI DENGAN KEMATIAN NEONATAL PADA KELUARGA MISKIN DI KABUPATEN PADANG PARIAMAN TAHUN 2004 (RELATION OF MATERNAL FACTOR AND BABY NURSING WITH DEATH OF NEONATAL AT IMPECUNIOUS FAMILY OF YEAR 2004) [PDF]

, 2005
Kematian bayi merupakan indikator utama dalam pembangunan kesehatan. 50% Angka Kematian Bayi terdiri dari Angka Kematian Neonatal. Di Kabupaten Padang Pariaman Angka Kematian Bayi sebesar 1,9%, 87,9% dari kematian bayi berasal dari neonatal, dan 75,2 ...
YANDRIDA, ROSLIDAR
core  

Neurobehavior of term neonates with neonatal hyperbilirubinemia

Journal of Pediatric Neurosciences, 2013
To find the effect of neonatal hyperbilirubinemia on neurobehavior of term infants.This study was undertaken in the neonatal unit of our tertiary care hospital. Term neonates who developed jaundice with serum bilirubin value of above 15 mg/dl within 1(st) week of life were enrolled in the study.
Noyal Mariya Joseph, Thirunavukkarasu Arun Babu, B Vishnu Bhat   +2 more
openaire   +4 more sources