Results 121 to 130 of about 113,262 (301)

Comparison of conventional, amplitude-integrated and geodesic sensor net EEG used in premature neonates: a systematic review

Arquivos de Neuro-Psiquiatria, 2019
The use of methods to evaluate cortical activity in neonates has great importance in modern medicine, as it allows the observation and evaluation of several clinical aspects, which guarantees that the health team has knowledge about possible intervention
Tainã Maria Alves de Sousa, Vinicius Siessere Gugelmin, Geraldo Magela Fernandes, Carlos Nogueira Aucélio, Karina Nascimento Costa, Rosana Maria Tristão   +5 more
doaj   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Optimising neonatal services for very preterm births between 27+0 and 31+6 weeks gestation in England: the OPTI-PREM mixed-methods study

Health and Social Care Delivery Research
Aim To investigate, for preterm babies born between 27+0 and 31+6 weeks gestation in England, optimal place of birth and early care. Design Mixed methods. Setting National Health Service neonatal care, England.
Thillagavathie Pillay, Oliver Rivero-Arias, Natalie Armstrong, Sarah E Seaton, Miaoqing Yang, Victor L Banda, Kelvin Dawson, Abdul QT Ismail, Vasiliki Bountziouka, Caroline Cupit, Alexis Paton, Bradley N Manktelow, Elizabeth S Draper, Neena Modi, Helen E Campbell, Elaine M Boyle   +15 more
doaj   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Neonatal Intensive Care Unit Nurses’ Knowledge and Use of Sucrose for Neonatal Pain Management in Saudi Arabia

SAGE Open Nursing
Introduction Sucrose is an evidence-based intervention used for short-term pain management and distress from minor procedures. Limited research exists on nurses’ knowledge and use of sucrose in Neonatal Intensive Care Units in Saudi Arabia.
Sumayah Faqihi RN, MSc, Ahmad Ismail RN, PhD, Abd Al-Hadi Hasan RN, PhD   +2 more
doaj   +1 more source

Work Stress, Burnout Levels, and Affecting Factors in Nurses in Neonatal Intensive Care Units

Mediterranean Nursing and Midwifery
Objective: The aim of this study was to investigate the work stress and burnout levels of neonatal intensive care nurses and the factors affecting them.
Fatma Bozdağ, Duygu Kemer, Hülya Karataş, Mehmet Emin Düken   +3 more
doaj   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

Transfusion practices in a neonatal intensive care unit in a city in Brazil

Revista Brasileira de Hematologia e Hemoterapia, 2014
OBJECTIVE: Newborn infants are the most heavily transfused population inside intensive care units. The hemoglobin level used to indicate the need of transfusions is not well established.
Carolina Augusta Arantes Portugal, Amanda Póvoa de Paiva, Érika Santos Freire, Alfredo Chaoubah, Marta Cristina Duarte, Abrahão Elias Hallack Neto   +5 more
doaj   +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