Results 81 to 90 of about 82,732 (241)

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

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

Comparison of severe maternal morbidity between pregnancy with subclinical hypothyroidism and overt hypothyroidism

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
In this cross‐sectional study, pregnancy with subclinical hypothyroidism was associated with higher rates of severe maternal morbidity at delivery compared with overt hypothyroidism, including cardio‐pulmonary morbidity and eclampsia. This association was especially seen among younger age, Black individuals, prepregnant hypertension, and obesity ...
Laurel S. Aberle, Katherine E. Bayard, Kimberly M. Juarez, Jennifer A. Yao, Shinya Matsuzaki, Tatsuya Miyake, Aaron D. Masjedi, Rachel S. Mandelbaum, Caroline T. Nguyen, Joseph G. Ouzounian, Koji Matsuo   +10 more
wiley   +1 more source

Distinct roles of transcription factors EGL-46 and DAF-19 in specifying the functionality of a polycystin-expressing sensory neuron necessary for C. elegans male vulva location behavior [PDF]

, 2003
Caenorhabditis elegans polycystins LOV-1 and PKD-2 are expressed in the male-specific HOB neuron, and are necessary for sensation of the hermaphrodite vulva during mating. We demonstrate that male vulva location behavior and expression of lov-1 and pkd-2
Bürglin, Thomas R., Prétôt, René F., Sternberg, Paul W., Yu, Hui   +3 more
core   +1 more source

Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History

Kidney International Reports
Introduction: Recently, the monoallelic loss-of-function IFT140 variant was identified as a causative gene for autosomal dominant polycystic kidney disease (ADPKD).
Takuya Fujimaru, Takayasu Mori, Akinari Sekine, Motoko Chiga, Shintaro Mandai, Hiroaki Kikuchi, Yutaro Mori, Yu Hara, Tamami Fujiki, Fumiaki Ando, Koichiro Susa, Soichiro Iimori, Shotaro Naito, Ryoichi Hanazawa, Akihiro Hirakawa, Toshio Mochizuki, Tatsuya Suwabe, Yoshifumi Ubara, Shinichi Uchida, Eisei Sohara   +19 more
doaj   +1 more source

Machine Learning‐Based Prediction of Life‐Threatening Complications During Hemodialysis in Hospitalized Patients With Poor General Conditions

Artificial Organs, EarlyView.
A machine learning model using predialysis data predicted sudden events during or after hemodialysis with high accuracy (auROC: 0.889). The key predictors included emergency hospitalization, recent surgery, high heart rate, low albumin levels, and high CRP.
Naotaka Kato, Takeshi Goto, Tomoyuki Ohira, Hirotaka Kinoshita, Kugo Kurokawa, Kouhei Naganuma, Chikako Ohminato, Junko Ogasawara, Shingo Hatakeyama, Yoshihiro Sasaki, Kazuyoshi Hirota, Chikara Ohyama   +11 more
wiley   +1 more source

Emerging targeted strategies for the treatment of autosomal dominant polycystic kidney disease. [PDF]

, 2018
Autosomal dominant polycystic kidney disease (ADPKD) is a widespread genetic disease that leads to renal failure in the majority of patients. The very first pharmacological treatment, tolvaptan, received Food and Drug Administration approval in 2018 ...
Bourgeois, Bryan C, Kruger, Samantha L, Shillingford, Jonathan M, Torres, Jacob, Weimbs, Thomas   +4 more
core   +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   +2 more sources

Low Risk for Urinary Tract Infection After Voiding Cystography in Children Without Dilated Vesikoureteral Reflux

Acta Paediatrica, EarlyView.
ABSTRACT Aim Urinary tract infection (UTI) is the most common and significant complication after voiding cystourethrography (VCUG) but the reported incidence in children varies highly. Therefore, the aim of this study was to evaluate the rate and possible risk factors for UTIs after VCUG. Method A multicentre retrospective cohort study of children < 15 
Emelie Widhe, Mette Hambraeus, Erik Hedström, Anna Börjesson, Martin Salö   +4 more
wiley   +1 more source

Compartmentalisation in cAMP signalling: A phase separation perspective

British Journal of Pharmacology, EarlyView.
Cells rely on precise spatiotemporal control of signalling pathways to ensure functional specificity. The compartmentalisation of cyclic AMP (cAMP) and protein kinase A (PKA) signalling enables distinct cellular responses within a crowded cytoplasmic space.
Milda Folkmanaite, Manuela Zaccolo
wiley   +1 more source