Results 131 to 140 of about 587,070 (347)
Autopsy and Case Reports, 2022 Renal lymphangiectasia (RL), also known as renal lymphangiomatosis, is a rare benign condition characterized by ectasia of peripelvic, perirenal and intrarenal lymphatic vessels.
Sangamitra Rajasekaran +4 more
doaj
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections
Prenatal Diagnosis, EarlyView.ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani +17 more
wiley +1 more source
Mechanical Instabilities of Biological Tubes
, 2012 We study theoretically the shapes of biological tubes affected by various pathologies. When epithelial cells grow at an uncontrolled rate, the negative tension produced by their division provokes a buckling instability.
A. P. Evan +9 more
core +1 more source
Nature Inspired Delivery Vehicles for CRISPR‐Based Genome Editing
Small, EarlyView.The review highlights nature‐inspired nanocarriers for CRISPR delivery, emphasizing viral vectors, extracellular vesicles, liposomes, and lipid nanoparticles. It discusses their roles in improving specificity, minimizing immunogenicity, and overcoming barriers in genome editing. Recent advancements, challenges, and therapeutic applications are explored,
Elizabeth Maria Clarissa +4 more
wiley +1 more source
Renal cell carcinoma with atypical omental metastasis: A case report and literature review
UroPrecision, EarlyView.Abstract Background Renal cell carcinoma (RCC) is the most common type of kidney cancer in adults, with common metastatic sites including the lungs, bones, liver, and brain. Omental metastasis is exceedingly rare and usually occurs postoperatively. Fumarate hydratase‐deficient (FH‐deficient) RCC, a recently classified and highly aggressive subtype of ...
Andrew Jing +4 more
wiley +1 more source
AMHR2 mutation in persistent Müllerian duct syndrome: A case of transverse testicular ectopia
UroPrecision, EarlyView.Abstract Backgroud Persistent Müllerian duct syndrome (PMDS) is a rare condition characterized by the persistence of Müllerian duct structures in genotypic and phenotypic males. Case Presentation We present the case of a 4‐month‐old male with PMDS who presented with transverse testicular ectopia. The patient underwent diagnostic laparoscopic orchiopexy
Hangcheng Fu +2 more
wiley +1 more source
BMC PediatricsBackground Kidney transplantation is the gold standard treatment for end-stage kidney disease in children. Rare genetic systemic diseases associated with cystic kidney disease such as COL4A1-related disorder and oral facial digital syndrome type 1 could ...
Marina Mata +5 more
doaj +1 more source