Results 31 to 40 of about 490 (115)

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 771-779, May 2026.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +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

Opening closed inward rectifier potassium channel doors

British Journal of Pharmacology, Volume 183, Issue 10, Page 2197-2218, May 2026.
Inwardly rectifying potassium (KIR) channels are essential regulators of membrane potential in excitable and non‐excitable tissues. Although KIR channels exhibit a biophysical preference for potassium influx due to voltage‐dependent block of outward current by polyamines and Mg2+, under physiological conditions, they predominantly mediate K+ efflux ...
Anna Stary‐Weinzinger, Fabian Kaiser, Marcel A. G. van der Heyden, Saïd Bendahhou   +3 more
wiley   +1 more source

The kidney and the balance of sulfur and nitrogen as fundamental components of pH homeostasis

Physiological Reports, Volume 14, Issue 10, May 2026.
Biochemical processes involved in ammoniagenesis and regulation of pH homeostasis. Abstract The homeostasis of blood and tissue pH is fundamental for life, and pH imbalances may lead to coma and death. The regulation of the acid–base balance involves primarily the lungs and kidneys, and is strictly integrated via the endocrine and nervous systems ...
Vincenzo Graziano, Antonio Angeloni, Paolo Mené, Andrea Bellelli   +3 more
wiley   +1 more source

Antenatal Bartter Syndrome as a Rare Cause of Severe Polyhydramnios: A Case Report and Review of the Literature

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Severe polyhydramnios occurs in 1%–2% of pregnancies and may be associated with maternal diabetes, fetal structural anomalies, genetic disorders, or remain idiopathic. Among the rare etiologies is Bartter syndrome, a renal tubular defect causing impaired salt reabsorption.
Fatemeh Shariati nia, Atefe Hashemi, Shaghayegh Moradi Alamdarloo, Maryam Kasraeian, Dorna Derakhshan, Hamide Barzegar   +5 more
wiley   +1 more source

Adult‐Onset Bartter Syndrome Presenting as Refractory Hypokalemia and Metabolic Alkalosis: A Case Report

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Bartter syndrome (BS) is a rare autosomal recessive salt‐wasting tubulopathy characterized by hypokalemic metabolic alkalosis, hyperreninemia, and hyperaldosteronism without hypertension. It usually presents in childhood; however, adult‐onset cases are infrequent and often misdiagnosed.
Muhammad Asif, Ayesha Sanam, Muhammad Ilyas, Sawera Tahir, Tahir Hanif, Muddassir Khalid, Iqra Sarwar, Fred Segawa   +7 more
wiley   +1 more source

Identification and Functional Characterization of a Novel Mutation in the Human Calcium-Sensing Receptor That Co-Segregates With Autosomal-Dominant Hypocalcemia

Frontiers in Endocrinology, 2018
The human calcium-sensing receptor (CASR) is the key controller of extracellular Cao2+ homeostasis, and different mutations in the CASR gene have been linked to different calcium diseases, such as familial hypocalciuric hypercalcemia, severe ...
Anne Qvist Rasmussen, Niklas Rye Jørgensen, Niklas Rye Jørgensen, Peter Schwarz, Peter Schwarz   +4 more
doaj   +1 more source

Gitelman Syndrome Presenting With Syncope and Treatment‐Refractory Hypokalemia in A Young Woman: A Case Report

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Gitelman syndrome (GS) is a rare autosomal recessive tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. A 27‐year‐old woman presented with a witnessed syncopal episode, progressive weakness, and nausea.
Iyassu S. Melkie, Abenezer A. Wolde, Lulit Y. Mengesha, Rahwa A. Kinfe, Chernet T. Mengistie, Zenebwork Y. Gubai   +5 more
wiley   +1 more source

Although myeloid‐cell RGS2 knockout does not affect Ang II–induced hypertension/organ damage in mice, high RGS2 in Gitelman/Bartter syndromes—human models of endogenous Ang II signaling antagonism—is associated with hypotensive/antiremodeling effects

Physiological Reports, Volume 14, Issue 18, September 2026.
Lorenzo A. Calò, Martina Cacciapuoti, Paul A. Davis   +2 more
wiley   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, Volume 109, Issue 3, Page 529-538, March 2026.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source