Results 31 to 40 of about 92,950 (263)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Infant mortality in a very low birth weight cohort from a public hospital in Rio de Janeiro, RJ, Brazil

Revista Brasileira de Saúde Materno Infantil, 2013
OBJECTIVES: to evaluate infant mortality in very low birth weight newborns from a public hospital in Rio de Janeiro, Brazil (2002-2006). METHODS: a retrospective cohort study was performed using the probabilistic linkage method to identify infant ...
Regina Coeli Azeredo Cardoso, Patrícia Viana Guimarães Flores, Cláudia Lima Vieira, Kátia Vergetti Bloch, Rejane Sobrino Pinheiro, Sandra Costa Fonseca, Claudia Medina Coeli   +6 more
doaj   +1 more source

Design and analysis strategies for robust microbiome ageing research

FEBS Letters, EarlyView.
The gut microbiome changes with age and associates with age‐related morbidity and mortality, establishing it as a potential biomarker and intervention target for ageing. Realising this potential requires methodological rigour, yet distinguishing biological signals from methodological artefacts remains challenging across cohorts. This review provides an
Mark Olenik, İsmail Güderer, Yi Wang, Tayyaba Alvi, Prasoon Pandey, Handan Melike Dönertaş   +5 more
wiley   +1 more source

Implementation of a protocol proposed by the Brazilian National Health Surveillance Agency for antibiotic use in very low birth weight infants

Jornal de Pediatria (Versão em Português), 2013
Objective: : To analyze the implementation of a protocol proposed by the Brazilian National Health Surveillance Agency (Agência Nacional de Vigilância Sanitária – ANVISA) to improve sepsis diagnosis in very low birth weight newborns.
Maria Cristina F. Guedes Pinto, Arnaldo C. Bueno, Alan A. Vieira   +2 more
doaj   +1 more source

OPHTHALMOLOGIC FINDINGS IN VERY LOW BIRTH WEIGHT INFANTS

Journal of Pediatric Ophthalmology & Strabismus, 1998
J Pediatr Ophthalmol ...
Asproudis, I., Andronikou, S., Griva, E., Psilas, K.   +3 more
openaire   +3 more sources

BCG vaccination potentiates oxidative phosphorylation in neonatal myeloid‐derived suppressor cells

FEBS Open Bio, EarlyView.
BCG vaccination enhances oxidative phosphorylation in neonatal MDSCs, impairing their immunosuppressive function. It upregulates electron transport chain genes and mitochondrial activity, increasing ATP and oxygen consumption. Pharmacological OXPHOS inhibition partially restores suppressive capacity, confirming causality.
Yingying Chen, Hui Li
wiley   +1 more source

Cerebellar growth in very low birth weight infants [PDF]

Journal of Perinatology, 2011
The aim of this study was to assess cerebellar growth of very low birth weight infants from birth to discharge and compare it with term infants.Very low birth weight infants were matched by gender, adequacy of weight to gestational age at birth and postmenstrual ages at hospital discharge to term newborns. Exclusion criteria were central nervous system
E, Jaeger, R C, Silveira, R S, Procianoy
openaire   +2 more sources

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Mortality and short-term outcomes of very low birth weight infants in Al-Qassim region, Saudi Arabia – Single-center experience

Saudi Journal for Health Sciences
Background: Very low birth weight (VLBW) is defined as a birth weight
Mohammad Abdulaziz Alhasoon, Maha Saad Zain Al-Abeden, Khadijah Abdulrahman Alrajhi, Arina Mohammed Alhamed, Mayar Ahmad Alzain, Yahya Ati AlMalki, Abdulrhman Obaid Alharbi, El Amin Mohamed Sobahi   +7 more
doaj   +1 more source

Postnatal Growth Faltering: Growth and Height Improvement at Two Years in Children with Very Low Birth Weight between 2002–2017

Children, 2022
The prevalence of postnatal growth faltering (PGF) in preterm infants with very low birth weight (VLBW) (
Lara González-García, Laura Mantecón-Fernández, Marta Suárez-Rodríguez, Rosa Arias-Llorente, Sonia Lareu-Vidal, Aleida Ibáñez-Fernández, María Caunedo-Jiménez, Clara González-López, Eva Fernández-Morán, Belén Fernández-Colomer, Gonzalo Solís-Sánchez   +10 more
doaj   +1 more source