Results 121 to 130 of about 72,360 (281)
, 2013 Case regarding a three-year old girl, suffering from Prader-Willi Syndrome, a rare genetic disorder with characteristic, easily recognisable dysmorphic features.
Vella Baldacchino, Mikhail +1 more
core
Movement Disorders, EarlyView.Abstract Background Defects of mitochondrial ATP synthase (ATPase) represent an emerging, yet incompletely understood group of neurodevelopmental diseases with abnormal movements. Objective The aim of this study was to redefine the phenotypic and mutational spectrum of movement disorders linked to the ATPase subunit‐encoding genes ATP5F1A and ATP5F1B ...
Philip Harrer +21 more
wiley +1 more source
122 Neonates with Low Apgar Score but without Hypoxic-Ischaemic Encephalopathy: Sub-Optimal Brainstem Function [PDF]
, 2004 Ze D. Jiang +3 more
openalex +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear +6 more
wiley +1 more source
88 Apgar Scores Predict Short-Term Outcome in Infants Born at 25 Weeks Gestation [PDF]
, 2004 Kristina Forsblad +3 more
openalex +1 more source
Prenatal Diagnosis of Horseshoe Lung: A Report of Three Cases and Review of the Literature
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Horseshoe lung is a rare congenital malformation in which the lungs are fused by a parenchymal isthmus. The current literature is very limited regarding cases of prenatal diagnosis and their outcome. Method We retrospectively examined three cases of fetuses with horseshoe lung diagnosed antenatally in our center from 2015 to 2024 ...
Benjamin Birene +6 more
wiley +1 more source
Ability to predict surgical outcomes by surgical Apgar score: a systematic review. [PDF]
BMC Surg, 2023 Mirzaiee M +5 more
europepmc +1 more source
Diffusion Tensor Imaging of Fetuses With Congenital Diaphragmatic Hernia
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To evaluate differences in diffusion tensor imaging (DTI) parameters in the brain between fetuses with congenital diaphragmatic hernia (CDH) and age‐matched controls. Method This retrospective IRB‐approved study included fetal MRIs for CDH and gestational age (GA) matched controls with lung pathology other than CDH with normal fetal ...
Usha D. Nagaraj +6 more
wiley +1 more source
Effects of intrathecal opioids use in cesarean section on breastfeeding and newborns’ weight gaining [PDF]
, 2016 Objective: To assess the association between intrapartum intrathecal opioid use and breastfeeding and weight gain following cesarean section. Materials and methods: The prospective double-blinded study was conducted on term pregnant women, undergoing ...
Anbarafshan, Mohammad +6 more
core +1 more source
Pediatric Discovery, EarlyView.In extremely preterm infants, nasal continuous positive airway pressure in the delivery room is recommended at the beginning of respiratory support to maintain functional residual volume, improve lung compliance, and increase oxygenation. However, when used in developing nations, these high‐quality studies from developed nations revealed some different
Xiaoting Zhang +4 more
wiley +1 more source