Results 241 to 250 of about 345,446 (318)
Perianesthetic Complications in Genetic Mitochondrial Disease: A Review of Case Reports
ABSTRACT Background Genetic mitochondrial diseases (GMDs) are a large group of genetically and clinically heterogeneous disorders caused by defects in genes encoding mitochondrial components. GMDs are grouped into named syndromes based on clinical presentation, for example, Leigh syndrome (LS).
Brittany M. Johnson, Simon C. Johnson
wiley +1 more source
Transperitoneal laparoscopic excision of a giant adrenal lymphangioma: a step-by-step approach. [PDF]
Alfaraj AM +5 more
europepmc +1 more source
Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Abdominal and Pelvic Anomalies
ABSTRACT Objective(s) This study aims to document the abdominal and pelvic anomalies that can be demonstrated using post mortem Micro‐CT, independent of whether the anomaly contributed to the main diagnosis or cause of death. Methods We retrospectively analyzed 1200 whole body post‐mortem fetal Micro‐CT scans in an unselected, consecutive cohort ...
Ian C. Simcock +5 more
wiley +1 more source
Histopathological evidence of osilodrostat-induced regression of a cortisol-producing adrenocortical adenoma. [PDF]
Kanzawa M +5 more
europepmc +1 more source
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu +7 more
wiley +1 more source
Retroperitoneal Extra-Adrenal Paraganglioma Presenting With Secondary Amenorrhea and Hypertension in an Adolescent: A Rare Case From Sub-Saharan Africa. [PDF]
Alemu GK +4 more
europepmc +1 more source
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source

