EVALUATION OF THE INCIDENCE AND OUTCOME OF FETAL HYDRONEPHROSIS PRENATALLY DIAGNOSED BY ULTRASOUND [PDF]
The outcome and proper management of fetal hydronephrosis have not been completely defined. The purpose of this study was to determine incidence and outcome of infants with a history of prenatal hydronephrosis diagnosed by ultrasound.
رفاهی, سهیلا +2 more
core
Cutaneous Melanoma Drives Metabolic Changes in the Aged Bone Marrow Immune Microenvironment
Melanoma, the deadliest form of skin cancer, increasingly affects older adults. Our study reveals that melanoma induces changes in iron and lipid levels in the bone marrow, impacting immune cell populations and increasing susceptibility to ferroptosis.
Alexis E. Carey +12 more
wiley +1 more source
Residual risk of clinically significant copy number variations in fetuses with ultrasonographic soft markers following exclusion of non-invasive prenatal screening-detectable findings. [PDF]
Liang Y +11 more
europepmc +1 more source
Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
Fetal pathology meets clinical genetics – on the value of a comprehensive postmortem examination. [PDF]
Fauth C +6 more
europepmc +1 more source
ABSTRACT Background Myasthenia gravis (MG) is an autoimmune disorder characterized by antibody‐mediated complement activation. Efgartigimod, a neonatal Fc receptor (FcRn) antagonist, is approved for treating generalized MG (gMG). However, its modulatory effects on upstream innate and adaptive immune cells remain largely unexplored.
Lei Jin +11 more
wiley +1 more source
Mind the Litter: The Critical Role of Intralitter Variables in Reproductive and Developmental Toxicology Research. [PDF]
Brown LTL +4 more
europepmc +1 more source
Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron +5 more
wiley +1 more source
Application of chromosomal microarray analysis for prenatal diagnosis in 315 ultrasonically abnormal fetuses. [PDF]
Zheng Z +6 more
europepmc +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source

