Results 121 to 130 of about 437,788 (352)

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Internações em unidade de terapia intensiva neonatal no Brasil - 1998-2001

Revista Latino-Americana de Enfermagem
Este trabalho tem por objetivos levantar a evolução do registro de dados sobre Unidades de Terapia Intensiva Neonatal, no Brasil; comparar o número de leitos de Unidades de Terapia Intensiva Neonatais com o número de leitos de Unidades de Terapia ...
Ivone Kamada, Semiramis Melani Melo Rocha, Claudia Benedita dos Santos Barbeira   +2 more
doaj  

Molecular Typing Demonstrating Transmission of Gram-Negative Rods in a Neonatal Intensive Care Unit in the Absence of a Recognized Epidemic [PDF]

, 2001
M. Almuneef, Robert S. Baltimore, Patricia Farrel, Patricia Reagan‐Cirincione, Louise‐Marie Dembry   +4 more
openalex   +1 more source

The association between plasma osmolality and in-hospital mortality in the first 24 h after neonatal intensive care unit admission

, 2023
Weiqin Liu, Lingling Xiang, Zhiwei Zhao, Lu Lin, Hong Wei, Ziyu Hua   +5 more
openalex   +1 more source

Breastfeeding in Neonatal Intensive Care Unit of Casablanca Teaching Hospital Ibn Rochd [PDF]

, 2022
Abdu El Karim sylla, M. Lehlimi, Aamal Badre, Salima Hajjaji, Soukaina Lyazidi, S. Ameayou, M. Chemsi, Abdourahman Habzi, S. Benomar, Samira Nani, Samira Hassoune   +10 more
openalex   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Molecular tracking of Candida albicans in a neonatal intensive care unit: long-term colonizations versus catheter-related infections [PDF]

, 1997
Beatriz Ruiz‐Díez, Vicente Martı́nez, M. Alvarez, J. L. Rodríguez-Tudela, Joaquín V. Martínez‐Suárez   +4 more
openalex   +1 more source

Adverse events and other incidents in neonatal intensive care units.

Ciência & Saúde Coletiva, 2015
The occurrence of avoidable adverse events (AEs) represents a problem of quality of care that is responsible for the increase in monetary and social costs, causing suffering to the patient, their family members and the professional involved.
L. Lanzillotti, M. D. de Seta, C. L. T. de Andrade, Walter Vieira Mendes Júnior   +3 more
semanticscholar   +1 more source

Intranasal Wharton's Jelly‐Derived Mesenchymal Stem Cell Therapy, Alone or in Conjunction With Therapeutic Hypothermia, Alleviates Neonatal Hypoxic‐Ischemic Brain Injury in Mice

Annals of Neurology, EarlyView.
This study demonstrates that intranasal Wharton's jelly‐derived mesenchymal stem cell (WJ‐MSC) administration at 3 or 10 days post‐insult reduced the lesion size and sensorimotor impairment following neonatal hypoxic‐ischemic (HI) brain injury in mice. WJ‐MSCs expressed receptors for HI‐upregulated chemokines and migrated from the nasal cavity into the
Caroline G. M. de Theije, Sara T. De Palma, Josine E. G. Vaes, Katiuscia Dallaglio, Giorgia Volpi, Diego Ardigò, Sabine van Rijt, Frank van Bel, Manon J. N. L. Benders, Cora H. A. Nijboer   +9 more
wiley   +1 more source

The Duration of Hospitalization and Readmission Rate of Low Birth Weight Infants in a Tertiary Referral Hospital in Isfahan, Iran [PDF]

Iranian Journal of Neonatology, 2015
Background: Currently, the number of premature deliveries has been increasing, resulting in early postnatal discharge due to shortage of beds in the neonatal intensive care units (NICU).
Amir-Mohammad Armanian, Majid Mohammadzadeh, Razieh Soleimani, Nima Salehimehr, Akbar Hasanzadeh   +4 more
doaj