Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights
ABSTRACT Objective To determine whether invasive genetic testing should be systematically proposed in cases of FGR. Methods Descriptive retrospective study of 159 FGR cases (defined by an estimated fetal growth < 3rd percentile, regardless of Doppler findings) managed at the Toulouse Fetal Medicine Center (TFMC) during 2022–2023.
Maud Langeois +5 more
wiley +1 more source
Uniplanar nystagmus associated with perceptual and cognitive visual dysfunction due to presumed focal ischemic occipital cortical atrophy: a missed diagnosis and new observation [PDF]
Uniplanar nystagmus has been described in relation to pathology of the brain stem, retina, optic nerve, sensory visual deprivation, periventricular leucomalacia, and drug toxicity.
Dorris, Liam +2 more
core +3 more sources
ABSTRACT Wheezing is a common respiratory symptom in infants and toddlers, and recurrent wheezing is a significant respiratory disorder affecting this age group. Given the multifactorial etiology of recurrent wheezing, clinical practice lacks standardized diagnostic and therapeutic protocols. Recent years have witnessed substantial progress in clinical
Committee of Pediatrics +16 more
wiley +1 more source
Perinatal hypoxia-ischemia is a major cause of acute mortality in newborns and cognitive and motor impairments in children. Cerebral hypoxia-ischemia leads to excitotoxicity and necrotic and apoptotic cell death, in which mitochondria play a major role ...
C. Queiroga +5 more
semanticscholar +1 more source
Foetal Cardiac Function in Early Labour and Intrapartum Outcomes: A Prospective Observational Study
ABSTRACT Objective To assess foetal myocardial deformation in normo‐oxygenated foetuses in early labour and its relationship with intrapartum outcomes. Design Single centre prospective study. Setting Referral tertiary maternity unit. Population Uncomplicated singleton term pregnancies in early labour.
Andrea Dall'Asta +7 more
wiley +1 more source
Early changes in pro-inflammatory cytokine levels in neonates with encephalopathy are associated with remote epilepsy. [PDF]
BackgroundNeonatal seizures are associated with adverse neurologic sequelae including epilepsy in childhood. Here we aim to determine whether levels of cytokines in neonates with brain injury are associated with acute symptomatic seizures or remote ...
Barkovich, A James +6 more
core
Reproductive Challenges of the Ageing Female: A Comprehensive Narrative Review
ABSTRACT Changes in societal norms over the last few decades have resulted in novel family planning trends, notably delayed childbearing and increased maternal age at the birth of the first child. Despite advances in reproductive medicine, ageing poses significant challenges.
Sofia Bitzika +6 more
wiley +1 more source
When intra-partum electronic fetal monitoring becomes court business [PDF]
Sadly but inevitably, the clinical fruit of all scientific research, like the profile of the Roman god Janus, presents us with two faces - one is patient benefit while the other is medico-legal vulnerability.
Buttigieg, George Gregory
core
ABSTRACT Objective To determine the risk of placental dysfunction associated with different ultrasound‐based phenotypes of impaired fetal growth in dichorionic twin pregnancies. Design Retrospective cohort study. Setting Single tertiary centre. Population Patients with dichorionic twin pregnancies delivered at ≥ 320/7 (2011–2023) (N = 753).
Ala Essalah +5 more
wiley +1 more source
Neuropathologic findings and age‐related differences in Finnish pediatric medico‐legal autopsies
Abstract Neuropathological examination plays a critical role in medico‐legal cause‐of‐death investigation, especially in determining the cause and manner of death in pediatric autopsies. Although a comprehensive neuropathological examination is recommended, limited data exists of the diagnostic yield of neuropathology consultations in such cases.
Elias Hakanen +2 more
wiley +1 more source

