Results 131 to 140 of about 50,456 (255)

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

Photoinduced Selective Construction of Densely Functionalized Spirocyclic Ethers With Carbyne Equivalents

Angewandte Chemie, Volume 138, Issue 18, 27 April 2026.
A reactivity programmed cascade between carbyne equivalents and allylic benzoates was developed that sequentially orchestrates all three reactivity modes of carbyne equivalents, enabling the rapid installation of three σ‐bonds at a single carbon center and providing efficient, scalable access to structurally diverse spirocyclic ethers. ABSTRACT Carbyne
Jianke Su, Chu Wang, Zhongping Cai, Jiale Wu, Xu Yan Chen, Jie Wu   +5 more
wiley   +2 more sources

Neue Erkenntnisse zur Pathophysiologie und Therapie der Gicht [PDF]

, 2018
Zusammenfassung: Gicht wird durch die Ablagerung von Mononatriumurat- (MNU-)Kristallen im Gewebe verursacht, durch die eine lokale Entzündungsreaktion ausgelöst wird. Bei älteren Menschen ist sie die häufigste entzündliche Gelenkerkrankung.
So, A.
core  

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

Investigating the relationship between body mass index, hypertension, and new-onset hyperuricemia in a Chinese repeat health checkup population

BMC Public Health
Background This study aims to investigate the relationship between body mass index (BMI) and new-onset hyperuricemia in a Chinese repeat health checkup population.
Chenxu Wang, Grace Tavengana, Wendan Mei, Yicheng Fang, Jian Hu, Xia Ren, Fan Su, Huan Wu, Yufeng Wen   +8 more
doaj   +1 more source

Radiation‐induced peroxide rupture and its temperature‐dependent repair probed by homogeneous X‐ray irradiation

Acta Crystallographica Section D, Volume 82, Issue 5, Page 492-503, May 2026.
This manuscript investigates the X‐ray‐induced radiolysis of the catalytic C5‐peroxide adduct in urate oxidase crystals, utilizing a top‐hat X‐ray beam to monitor peroxide occupancy across extensive dose series at both 100 K and room temperature. The study reveals a kinetic phase transition where the peroxide decays rapidly via zero‐order kinetics at ...
Symeon Koulas, Soi Bui, Julius B. Kirkegaard, Gleb Bourenkov, Roberto A. Steiner   +4 more
wiley   +1 more source

Prevalence and factors associated with hyperuricemia among people living with HIV in Uganda: a cross-sectional study at a tertiary hospital in Uganda

Therapeutic Advances in Infectious Disease
Background: Hyperuricemia is associated with an elevated risk of cardiovascular diseases (CVD) among people with HIV (PLWH). However, there is a paucity of studies examining the factors associated with hyperuricemia among PLWH in sub-Saharan Africa ...
Jeremiah Mutinye Kwesiga, Reagan Nkonge, Brenda Namanda, Martin Nabwana, Joseph Baruch Baluku   +4 more
doaj   +1 more source

Tophaceous gout of the extensor mechanism of the knee [PDF]

, 2015
Catry, F, Vanhoenacker, Filip, Vansevenant, Milan   +2 more
core   +2 more sources

Obesity as the Upstream Driver of Inflammation and Insulin Resistance in Hyperuricaemia

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 3, May 2026.
Mohammad Riashad Monjur
wiley   +1 more source

Association between diabetes and in‐hospital outcomes in patients with metabolic dysfunction‐associated steatotic liver disease hospitalized for cardiovascular disease: A nationwide database study

Diabetic Medicine, Volume 43, Issue 5, May 2026.
In a nationwide cohort of 10,614 patients with metabolic dysfunction–associated steatotic liver disease (MASLD) hospitalized for cardiovascular disease (CVD), diabetes was present in 4550 patients (43%) and was independently associated with higher in‐hospital mortality and cardiovascular complications.
Soichi Komaki, Michikazu Nakai, Yunosuke Matsuura, Kinuko Yamamoto, Hiroki Tanaka, Yuri Komaki, Masashi Yamaguchi, Kohei Moribayashi, Takeshi Ideguchi, Hiroshi Kawakami, Toshihiro Tsuruda, Koichi Kaikita   +11 more
wiley   +1 more source