Results 191 to 200 of about 105,011 (261)

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

open access: yesClinical Genetics, EarlyView.
PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady   +3 more
wiley   +1 more source

Predictive utility of a simple cranial magnetic resonance imaging score at term‐equivalent age for cerebral palsy

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
This study evaluated the Total Abnormality Score (TAS) from cMRI at term‐equivalent age as a predictor of cerebral palsy (CP) in 137 infants born preterm or with low birthweight. Infants who developed CP had significantly higher TAS values (median 11 vs 2), with a TAS cut‐off of 9.5 demonstrating high sensitivity (88.9%) and specificity (91.4%) for CP ...
Anne‐Kathrin Dathe   +6 more
wiley   +1 more source

Fetal brain MRI analysis: Towards clinical translation and impact

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Emerging AI‐based methods demonstrate the feasibility of automating image acquisition, motion correction and 3D reconstruction, segmentation, biometry, and quality control in fetal brain MRI, signaling a shift towards more quantitative assessment, and enabling precise characterization and assessment of the developing brain.
Aysha Luis   +3 more
wiley   +1 more source

Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia. Abstract The presence of a small optic disc on funduscopy is prerequisite for the diagnosis of optic nerve hypoplasia (ONH). Visual acuity may be normal. However, amblyopia can occur in ONH. A relative afferent pupillary light defect indicates unilateral or asymmetrical ONH.
Michael S. Salman
wiley   +1 more source

Ectopic pregnancy in a horse

open access: yesEquine Veterinary Education, EarlyView.
Summary An ectopic fetus was discovered in the abdominal cavity of a 21‐year‐old Haflinger mare, which was referred to an equine clinic because of colic symptoms. The mare had been inseminated 3 years previously and was confirmed pregnant at 90 days.
M. S. Swoboda   +3 more
wiley   +1 more source

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