Results 61 to 70 of about 30,345 (207)

Reno-appendiceal fistula in autosomal dominant polycystic kidney disease

Urology Case Reports, 2021
We present a very rare Case of a 53-year-old female with autosomal dominant polycystic kidney disease (ADPKD) who was incidentally found to have a reno-appendiceal fistula while undergoing open bilateral nephrectomy.
Madison S. Hill, Natalia Arias Villela, John C. LaMattina, Yvonne M. Rasko, Michael W. Phelan   +4 more
doaj   +1 more source

Carbohydrate‐Based Drug Discovery: Synthetic Strategies and Clinical Applications

Israel Journal of Chemistry, Volume 66, Issue 3, May 2026.
The picture depicts the molecules discussed in the review. On the left side, the general scaffold of sugars is shown. Next to it are four carbohydrate‐based molecules, including remdesivir, islatravir, empagliflozin, and Globo‐H. Remdesivir and islatravir contain a substituted ribose ring attached to a modified nucleobase.
Stephan Scheeff, Jemma Arakelyan, Billy Wai‐Lung Ng   +2 more
wiley   +1 more source

Metabolism-based approaches for autosomal dominant polycystic kidney disease

Frontiers in Molecular Biosciences, 2023
Autosomal Dominant Polycystic Kidney Disease (ADPKD) leads to end stage kidney disease (ESKD) through the development and expansion of multiple cysts throughout the kidney parenchyma.
Ivona Bakaj, Alessandro Pocai
doaj   +1 more source

A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with Autosomal Dominant Polycystic Kidney Disease [PDF]

, 2015
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common form of Polycystic Kidney Disease (PKD) and occurs at a frequency of 1/800 to 1/1000 affecting all ethnic groups worldwide.
Al-Mulla, Fahd, Ali, Hamad, Harris, Peter, Hussain, Naser, Kehinde, Elijah, Naim, Medhat, Seaburg, Lauren, Sundsbak, Jamie, Zayed, Mohamed   +8 more
core  

Identification of a Novel De Novo Heterozygous SEC61A1 Variant in a Patient With Severe Congenital Neutropenia

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
Severe congenital neutropenia can be caused by rare SEC61A1 variants. We report a child with SCN showing granulocytic maturation arrest and abnormal immunophenotype, carrying a novel de novo SEC61A1 p.Trp379Arg variant, expanding the phenotypic and genetic spectrum of SEC61A1‐associated SCN.
Zixuan Wang, Hui Jing, Yuhan Chen, Ling Zhong, Jiyun Yang   +4 more
wiley   +1 more source

Relevance of ultrasound examination in general practice. A case report of a patient with autosomal dominant polycystic kidney disease

Journal of Ultrasonography, 2013
Autosomal dominant polycystic kidney disease is a genetic disorder which results in the development of multiple cysts in the kidneys and other parenchymal organs. The two genes in which mutations are known to cause autosomal dominant polycystic kidney
Izabela Cwojdzińska-Jankowska, Anna Plewa   +1 more
doaj  

T1 vs. T2 weighted magnetic resonance imaging to assess total kidney volume in patients with autosomal dominant polycystic kidney disease [PDF]

, 2017
Purpose: In ADPKD patients total kidney volume (TKV) measurement using MRI is performed to predict rate of disease progression. Historically T1 weighted images (T1) were used, but the methodology of T2 weighted imaging (T2) has evolved.
A. Lianne Messchendorp, Gert J. ter Horst, Maatje D. A. van Gastel, Marissa de Jong, Merel A. Kaatee, null null, Peter Kappert, Remco J. Renken, Ron T. Gansevoort, Shekar V. K. Mahesh   +9 more
core   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract [PDF]

, 2019
Background: Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies have also been described.
Aguayo Calcena, Aníbal, Ariceta, Gema, Castaño González, Luis Antonio, García Castaño, Alejandro, Madariaga Domínguez, Leire, Martínez Salazar, Rosa   +5 more
core   +3 more sources

Autosomal Dominant Tubulointerstitial Kidney Disease Clinical Trial Simulator: Case Reports of Model‐Informed Drug Development

CPT: Pharmacometrics &Systems Pharmacology, Volume 15, Issue 5, May 2026.
ABSTRACT Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) is the third most common inherited monogenic kidney disorder. Mutations in UMOD and MUC1 account for most cases, with the disease characterized by progressive eGFR decline leading to kidney failure. No disease‐modifying therapies exist, and transplantation is the only current option.
Shyam S. Ramesh, Mark Rogge, Jongjin Kim, Sanghoon Kang, Kendrah Kidd, Adrienne Williams, Julie Roignot, Katherine Blakeslee, Anthony J. Bleyer, Sarah Kim   +9 more
wiley   +1 more source