Results 31 to 40 of about 9,987 (133)

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin   +7 more
wiley   +1 more source

Secretopathies emerge as a new class of neurocristopathies

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira   +3 more
wiley   +1 more source

Implementation and Performance of First‐Trimester Referral Ultrasound Scan Following the Introduction of National Guidelines

open access: yesJournal of Clinical Ultrasound, EarlyView.
The expert assessment of fetal anatomy before 14 weeks is feasible when adopting a standardized protocol and allows an early diagnosis in most cases at risk for fetal anomaly following first trimester screening ultrasound. ABSTRACT Background To report the implementation across Fetal Medicine units and the agreement between first and second trimester ...
Grazia Volpe   +11 more
wiley   +1 more source

Anomalies of the Corpus Callosum in Prenatal Ultrasound: A Narrative Review for Diagnosis and Further Counseling

open access: yesJournal of Medical Ultrasound
The corpus callosum is the major interhemispheric tract that plays an important role in neurological function. Understanding the etiology and embryology development helps the ultrasound diagnosis for disorders of the corpus callosum and further ...
Fang-Tzu Wu, Chih-Ping Chen
doaj   +1 more source

A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum

open access: yesMolecular Cytogenetics, 2011
Background Partial Trisomy 11q syndrome (or Duplication 11q) has defined clinical features and is documented as a rare syndrome by National Organization of Rare Disorders (NORD).
Lall Meena   +5 more
doaj   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño   +6 more
wiley   +1 more source

A rare cause of generalized seizures: agenesis and Lipoma of the corpus Callosum

open access: yesThe Pan African Medical Journal, 2014
An 18 years old young patient with no history presented to the emergency department suffering from episodes of generalized seizures and atypical headache without fever, the onset of symptoms dated back to two months.
Ahmed Belkouch, Abdelilah Mouhsine
doaj   +1 more source

On the outside looking in: a phenomenological study of the lived experience of Australian adults with a disorder of the corpus callosum

open access: yesOrphanet Journal of Rare Diseases, 2021
Background While classified as a rare condition, a congenital disorder of the corpus callosum (DCC) is one of the most commonly identified brain anomalies in newborns, occurring in 1:4000 live births.
Maree Maxfield   +4 more
doaj   +1 more source

Challenges in Diagnosing Central Adrenal Insufficiency in Children: Cortisol‐Stimulating Tests are Safe and Often Required

open access: yesClinical Endocrinology, EarlyView.
ABSTRACT Introduction The accuracy and safety of cortisol‐stimulating tests (CSTs) for assessing hypothalamic–pituitary–adrenal (HPA) axis integrity, including the diagnosis of central adrenal insufficiency (CAI), in children remain uncertain. Although these tests can simultaneously evaluate cortisol and growth hormone secretion, the present study ...
Mariana Peduti Halah   +6 more
wiley   +1 more source

The corpus callosum and creativity revisited

open access: yesFrontiers in Human Neuroscience
In 1969 Joseph Bogen, a colleague of Roger Sperry and the neurosurgeon who performed commissurotomy on Sperry’s “split-brain” study participants, wrote an article subtitled “The Corpus Callosum and Creativity.” The article argued for the critical role of
Warren S. Brown   +4 more
doaj   +1 more source

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