Results 81 to 90 of about 54,096 (252)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

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, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Diagnostic Role of N-Acetyl-β-D-Glucosaminidase as an Early Marker of Kidney Damage

Počki, 2016
In many diseases of the kidneys, N-acetyl-β-D-glucosaminidase (NAG) in the urine is excreted in large quantities. A significant increase in NAG activity is observed at the primary and secondary kidney damage, heavy metal poisoning, kidney transplantation,
O.O. Melnyk
doaj   +1 more source

Advancing Extracellular Vesicle Research: A Review of Systems Biology and Multiomics Perspectives

PROTEOMICS, EarlyView.
ABSTRACT Extracellular vesicles (EVs) are membrane‐bound vesicles secreted by various cell types into the extracellular space and play a role in intercellular communication. Their molecular cargo varies depending on the cell of origin and its functional state.
Gloria Kemunto, Samaneh Ghadami, Kristen Dellinger   +2 more
wiley   +1 more source

Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease

Brazilian Journal of Medical and Biological Research, 2006
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disease characterized by a malformation complex which includes cystically dilated tubules in the kidneys and ductal plate malformation in the liver.
L.F. Menezes, L.F. Onuchic
doaj  

RNA Sequencing for Rare Disease Diagnosis in a South African Family: A Novel Exon Elongation Event in OFD1

American Journal of Medical Genetics Part A, EarlyView.
Jana van der Westhuizen, Vicente A. Yépez, Shahida Moosa   +2 more
wiley   +1 more source

No increased risk of spinal cerebrospinal fluid leak after spinal manipulative therapy: A retrospective cohort study

PM&R, EarlyView.
Abstract Background Spinal cerebrospinal fluid (CSF) leaks, a rare but debilitating condition, have been described following spinal manipulative therapy (SMT) in case reports. However, the nature of the potential association between SMT and CSF leak is uncertain, and symptoms such as neck pain or headache may reflect preexisting leaks rather than ...
Robert J. Trager, Collin M. Labak, Anthony N. Baumann, Tyler H. Snodgrass, Zachary A. Cupler   +4 more
wiley   +1 more source

Polycystic Diseases in Visceral Organs

Obstetrics and Gynecology International, 2011
Primary cilia are nonmotile, microtubule-based, antenna-like organelles projecting from the apical surface of most mammalian cells. Elegant studies have established the importance of ciliary structure and function in signal transduction and the sensory ...
Shakila Abdul-Majeed, Surya M. Nauli
doaj   +1 more source

Stem cells and fluid flow drive cyst formation in an invertebrate excretory organ.

, 2015
Cystic kidney diseases (CKDs) affect millions of people worldwide. The defining pathological features are fluid-filled cysts developing from nephric tubules due to defective flow sensing, cell proliferation and differentiation.
Alexander, R., Alvarado, A., Lakshmanaperumal, N., McClain, M., McKinney, S., Rink, J., Vu, H.   +6 more
core   +1 more source

Building a network of ADPKD reference centres across Europe: the EuroCYST initiative [PDF]

, 2016
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic inherited kidney disease, affecting an estimated 600 000 individuals in Europe. The disease is characterized by age-dependent development of a multiple cysts in
Budde, Klemens, Chaveau, Dominique, Devuyst, Olivier, Ecder, Tevfik, Eckardt, Kai-Uwe, Gansevoort, Ron T., Köttgen, Anna, Le Meur, Yannick, Ong, Albert C M., Petzold, Katja, Pirson, Yves, Remuzzi, Giuseppe, Rotar, Laura, Sandford, Richard, Serra, Andreas L., Tesar, Vladimir, Torra, Roser, Wüthrich, Rudolf P.   +17 more
core   +2 more sources

Impact of barometric pressure on blood pressure during dialysis: Introducing intradialytic time‐averaged cumulative systolic blood pressure (TACsBP‐inD) as a new metric

Therapeutic Apheresis and Dialysis, Volume 29, Issue 3, Page 525-534, June 2025.
Abstract Background Blood pressure is a crucial risk factor for hemodialysis patients, but the specific impact of weather factors, particularly barometric pressure, on blood pressure remains unclear. This study aims to examine the relationship between barometric pressure and blood pressure in hemodialysis patients. Methods We conducted a single‐center,
Kosaku Iwatsubo, Shouichi Fujimoto, Michikazu Nakai   +2 more
wiley   +1 more source