Results 51 to 60 of about 1,864 (192)

Lower time‐averaged serum uric acid was associated with increased mortality in peritoneal dialysis patients

Therapeutic Apheresis and Dialysis, Volume 29, Issue 3, Page 479-490, June 2025.
Abstract Background The relationship between time‐averaged serum uric acid (TA‐SUA) levels and prognosis in peritoneal dialysis (PD) patients are rarely discussed. Methods This was a retrospective cohort study. PD patients recruited from January 1, 2011, to December 31, 2020, were included.
Lu Li, Hongxia Zhang, Botao Zhang, Fangyuan Yang, Mengting Wang, Wenlong Qiu, Lina Fu, Menghua Chen, Na Tian   +8 more
wiley   +1 more source

Supplementary Material for: Association between Hypouricemia and Reduced Kidney Function: A Cross-Sectional Population-Based Study in Japan

, 2017
Background: Hypouricemia, conventionally defined as a serum uric acid level of ≤2 mg/dl, is considered a biochemical disorder with no clinical significance.
Iseki K. (4145797), Tsuruya K. (4152235), Wakasugi M. (4152238), Narita I. (3126015), Fujimoto S. (4152232), Kazama J.J. (4152229), Konta T. (4152223), Yamagata K. (4145794), Moriyama T. (4152226), Asahi K. (4152241)   +9 more
core   +1 more source

Clinical and biochemical profile of individuals with renal glucosuria: A matched cohort study

Diabetes, Obesity and Metabolism, Volume 27, Issue 6, Page 3242-3251, June 2025.
Abstract Aims To compare the clinical and biochemical characteristics of individuals with renal glucosuria to matched controls. Materials and Methods We analysed data from 60,000 consecutive adults in Maccabi Healthcare Services, an Israeli health maintenance organization, who had at least two urine dipstick tests performed at least 3 months apart ...
Afif Nakhleh, Limor Adler, Gida Ayada, Shirley Shapiro Ben David, Daniella Rahamim‐Cohen, Ori Liran, Sagit Zolotov, Naim Shehadeh   +7 more
wiley   +1 more source

Dysuricemia—A New Concept Encompassing Hyperuricemia and Hypouricemia

Biomedicines, 2023
The importance of uric acid, the final metabolite of purines excreted by the kidneys and intestines, was not previously recognized, except for its role in forming crystals in the joints and causing gout. However, recent evidence implies that uric acid is
Naoyuki Otani, Motoshi Ouchi, Einosuke Mizuta, Asuka Morita, Tomoe Fujita, Naohiko Anzai, Ichiro Hisatome   +6 more
doaj   +1 more source

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio, Julia Cordeiro Milke, Yannick Moutapam‐Ngamby‐Adriaansen, Arthur Minas Alberti, Marie Gernay, Eduardo Augusto Schutz, Ida Vanessa Doederlein Schwartz, François Maillot   +7 more
wiley   +1 more source

Safety, Pharmacokinetics, and Pharmacodynamics of a First‐in‐Class ClC‐1 Inhibitor to Enhance Muscle Excitability: Phase I Randomized Controlled Trial

Clinical Pharmacology &Therapeutics, Volume 117, Issue 3, Page 768-778, March 2025.
NMD670 is a first‐in‐class inhibitor of skeletal muscle‐specific chloride channel ClC‐1, developed to improve muscle weakness and fatigue in neuromuscular diseases. Preclinical studies show that ClC‐1 inhibition enhances muscle excitability, improving muscle contractility and strength.
Titia Q. Ruijs, Catherine M. K. E. de Cuba, Jules A. A. C. Heuberger, John Hutchison, Jane Bold, Thomas S. Grønnebæk, Klaus G. Jensen, Eva Chin, Jorge A. Quiroz, Thomas K. Petersen, Peter Flagstad, Marieke L. de Kam, Michiel J. van Esdonk, Erica Klaassen, Robert J. Doll, Ingrid W. Koopmans, Annika A. de Goede, Linda B. S. Aulin, Thomas H. Pedersen, Geert Jan Groeneveld   +19 more
wiley   +1 more source

Association between hypouricemia and reduced kidney function : a cross-sectional population-based study in Japan

, 2015
Background: Hypouricemia, conventionally defined as a serum uric acid level of ≤2 mg/dL, is considered a biochemical disorder with no clinical significance.
Fujimoto, Shouichi, Narita, Ichiei, Asahi, Koichi, Iseki, Kunitoshi, Tsuruya, Kazuhiko, Konta, Tsuneo, Ohashi, Yasuo, Wakasugi, Minako, Watanabe, Tsuyoshi, Kazama, Junichiro James, Moriyama, Toshiki, Kurahashi, Issei, Kondo, Masahide, Kimura, Kenjiro, Yamagata, Kunihiro   +14 more
core   +1 more source

Novel Genetic Loci in Early‐Onset Gout Derived From Whole‐Genome Sequencing of an Adolescent Gout Cohort

Arthritis &Rheumatology, Volume 77, Issue 1, Page 107-115, January 2025.
Objective Mechanisms underlying the adolescent‐onset and early‐onset gout are unclear. This study aimed to discover variants associated with early‐onset gout. Methods We conducted whole‐genome sequencing in a discovery adolescent‐onset gout cohort of 905 individuals (gout onset 12 to 19 years) to discover common and low‐frequency single‐nucleotide ...
Aichang Ji, Yang Sui, Xiaomei Xue, Xiapeng Ji, Wenrui Shi, Yongyong Shi, Robert Terkeltaub, Nicola Dalbeth, Riku Takei, Fei Yan, Mingshu Sun, Maichao Li, Jie Lu, Lingling Cui, Zhen Liu, Can Wang, Xinde Li, Lin Han, Zhanjie Fang, Wenyan Sun, Yue Liang, Yuwei He, Guangmin Zheng, Xuefeng Wang, Jiayi Wang, Hui Zhang, Lei Pang, Han Qi, Yushuang Li, Zan Cheng, Zhiqiang Li, Jingfa Xiao, Changqing Zeng, Tony R. Merriman, Hongzhu Qu, Xiangdong Fang, Changgui Li   +36 more
wiley   +1 more source

Hematuria in Patients with Renal Hypouricemia.

Internal Medicine, 1998
The characteristics of urate metabolism in renal hypouricemic patients with hematuria were studied to clarify the risk factors for hematuria in patients with renal hypouricemia. In 16 Japanese patients with isolated renal hypouricemia, urate metabolism was measured using the urate clearance study and the subtype of renal hypouricemia [defective ...
HISATOME, Ichiro, TANAKA, Yasushi, OGINO, Kazuhide, SHIMOYAMA, Masaki, HIROE, Koh, TSUBOI, Mariko, YAMAMOTO, Yasutaka, HAMADA, Norihiro, KATO, Tatsuo, MANABE, Ichiro, KINUGAWA, Toru, OHTAHARA, Akira, YOSHIDA, Akio, SHIGEMASA, Chiaki, TAKEDA, Akira, SATO, Ryoichi   +15 more
openaire   +3 more sources

Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1

Clinical Genetics, Volume 107, Issue 1, Page 98-103, January 2025.
The Pashtun population is prone to genetic diseases due to common practice of familial marriage and socio‐cultural isolation. Through exome sequencing of four selected families, we identified causative and candidate variants in TSEN54, MOCS2, and OPHN1.
Afrasiab Khan, Anees Muhammad, Hidayat Ullah, Hina Ambreen, Abeed Ullah, Patrick May, Holger Lerche, Tobias B. Haack, Shoaib ur Rehman, Josua Kegele   +9 more
wiley   +1 more source