Results 91 to 100 of about 726,961 (271)

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Abdominal and Pelvic Anomalies

Prenatal Diagnosis, EarlyView.
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, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Genetic Investigation in Fetal Growth Restriction: An Integrated Approach for Clinical Practice

Prenatal Diagnosis, EarlyView.
ABSTRACT International guidelines recommend genetic testing when fetal growth restriction (FGR) accompanies structural anomalies, but recommendations for apparently isolated FGR remain variable, particularly regarding gestational age thresholds and the role of exome sequencing (ES). Interpretation is difficult because studies define FGR inconsistently,
Eran Ashwal, David Chitayat
wiley   +1 more source

Stromal β-catenin overexpression contributes to the pathogenesis of renal dysplasia.

, 2016
Renal dysplasia, the leading cause of renal failure in children, is characterized by disrupted branching of the collecting ducts and primitive tubules, with an expansion of the stroma, yet a role for the renal stroma in the genesis of renal dysplasia is ...
Dabas, Pari, Karolak, Michele, Boivin, Felix J, Bridgewater, Darren, Oxburgh, Leif, Sarin, Sanjay   +5 more
core   +1 more source

The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome

, 2015
Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant genetic disorder characterized by hypoparathyroidism, sensorineural deafness and renal dysplasia.
Kaya, Avni, Usui, Takeshi, Dönmez, Ayşe Sena, Döneray, Hakan   +3 more
core   +1 more source

Fibromuscular dysplasia and aortic dissection

, 2022
Fibromuscular dysplasia is a rare, non-atherosclerotic, non-inflammatory vascular disease that typically affects women between the ages of 20 and 60 years.Although any artery can be affected fibromuscular dysplasia most commonly affects the renal and ...
Manuel Fernández Caro, Antonio M Puppo*, Jose Mariá López Sánchez, Francisco T Gómez, Sara Martín Sastre, Gómez Francisco T, Sastre Sara Martín, Sánchez Jose Mariá López, Puppo Antonio M, Caro Manuel Fernández   +9 more
core   +1 more source

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

Endovascular Treatment of Ruptured Vertebral Artery Dissecting Aneurysm in Fibromuscular Dysplasia

Brazilian Neurosurgery, 2019
Background Fibromuscular dysplasia (FMD) affects predominantly the cervical and renal arteries and may cause the classical angiographic pattern of string-of-beads. The diagnosis is increasing with the advances of imaging techniques.
Luana Antunes Maranha Gatto, Diego do Monte Rodrigues Seabra, Jennyfer Paulla Galdino Chaves, Gelson Luis Koppe, Zeferino Demartini Jr   +4 more
doaj   +1 more source

Semi‐mechanistic population PK/PD model to aid clinical understanding of myelodysplastic syndromes following treatment with Venetoclax and Azacitidine

CPT: Pharmacometrics &Systems Pharmacology, Volume 14, Issue 3, Page 448-459, March 2025.
Abstract Myelodysplastic syndromes (MDS) represent a group of bone marrow disorders involving cytopenias, hypercellular bone marrow, and dysplastic hematopoietic progenitors. MDS remains a challenge to treat due to the complex interplay between disease‐induced and treatment‐related cytopenias.
Neha Thakre, Corinna Maier, Jiuhong Zha, Benjamin Engelhardt, Johannes E. Wolff, Sven Mensing   +5 more
wiley   +1 more source

Presumptive Congenital Unilateral Renal Agenesis With Contralateral Dysplasia/Hypoplasia in a Golden Retriever

Veterinary Medicine and Science
Background Congenital renal agenesis with contralateral dysplasia/hypoplasia represents an exceptionally rare morphological presentation in dogs, with only one previous case documented worldwide.
Hyewon Moon
doaj   +1 more source

Apigenin Protects Hypertensive Intracerebral Hemorrhage by Regulating Trx1 Through Binding to PRDX2

Phytotherapy Research, EarlyView.
ABSTRACT Intracerebral hemorrhage (ICH) remains the most severe stroke subtype with high mortality and disability rates. Although apigenin has shown cerebroprotective potential in preclinical studies, its mechanism of action, particularly in hypertensive ICH, remains poorly understood.
Hao‐chen Xu, Ming Liu, Ying‐ying Sun, Jie‐Dan Ping, Qing‐hua Cui, Jing‐zhou Chen, Hao Li   +6 more
wiley   +1 more source