Results 61 to 70 of about 2,135 (156)

Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population

Human Genome Variation
Acid sphingomyelinase deficiency (ASMD) and Gaucher disease (GD) are lysosomal storage disorders associated with hepatosplenomegaly and thrombocytopenia.
Shuhei Sako, Kimihiko Oishi, Hiroyuki Ida, Eri Imagawa   +3 more
doaj   +1 more source

Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy

International Journal of Neonatal Screening
Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder with a broad clinical spectrum. Early diagnosis and initiation of treatment are crucial for improving outcomes, yet the disease often goes undiagnosed due to its rarity and ...
Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Christian Loro, Elena Porcù, Leonardo Salviati, Alessandro P. Burlina, Alberto B. Burlina   +7 more
doaj   +1 more source

Association of Sodium‐Glucose Cotransporter‐2 Inhibitors With Incident Gout Risk: A Population‐Based Comparative Cohort Study With Genetic Evidence From Mendelian Randomisation

Diabetes, Obesity and Metabolism, Volume 28, Issue 9, Page 8230-8241, September 2026.
ABSTRACT Aim Sodium‐glucose cotransporter‐2 inhibitors (SGLT2i) are known to reduce serum urate levels, yet their specific impact on gout incidence in the Korean population remains underexplored. We investigated the association between SGLT2i use and incident gout using real‐world data and Mendelian randomisation (MR) analysis. Materials and Methods We
Hong Sang Choi, Jaejun Heo, Sungho Won, Sang Heon Suh, Chang Seong Kim, Eun Hui Bae, Juhee Ahn, Soo Wan Kim   +7 more
wiley   +1 more source

Acid sphingomyelinase deficiency in France: a retrospective survival study

Orphanet Journal of Rare Diseases
Background Acid sphingomyelinase deficiency (ASMD) or Niemann–Pick disease types A, A/B, and B is a progressive, life-limiting, autosomal recessive disorder caused by sphingomyelin phosphodiesterase 1 (SMPD1) gene mutations.
Wladimir Mauhin, Nathalie Guffon, Marie T. Vanier, Roseline Froissart, Aline Cano, Claire Douillard, Christian Lavigne, Bénédicte Héron, Nadia Belmatoug, Yurdagül Uzunhan, Didier Lacombe, Thierry Levade, Aymeric Duvivier, Ruth Pulikottil-Jacob, Fernando Laredo, Samia Pichard, Olivier Lidove, ASSUR Study Group   +17 more
doaj   +1 more source

Bridging Therapy Versus Intravenous Thrombolysis Alone in Patients With Medium Vessel Occlusion Stroke: A Single‐Center Cohort Study

Brain and Behavior, Volume 16, Issue 8, August 2026.
ABSTRACT Background To compare the outcomes of bridging therapy versus intravenous thrombolysis (IVT) alone in patients with medium vessel occlusion (MeVO). Methods Consecutive MeVO patients between January 2019 and December 2024 were retrospectively included and classified into IVT alone or bridging therapy groups.
Di Hu, Mo Yang, Zhenghua Gu, Jie Fan, Lizhi Yu, Chengcai Xia, Qingguo Ren   +6 more
wiley   +1 more source

Case Report of Gastrointestinal Bleeding in an Adult with Chronic Visceral Acid Sphingomyelinase Deficiency

Case Reports in Gastrointestinal Medicine, 2019
Introduction. Acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick Type A and Type B disease) is a rare, inherited metabolic disorder.
David Cassiman, Louis Libbrecht, Wouter Meersseman, Alexander Wilmer   +3 more
doaj   +1 more source

Dementia Risk With Combined Statin and Antihypertensive Drugs That Increase Versus Decrease Angiotensin‐II Formation: Findings From the 45 and Up Study

International Journal of Geriatric Psychiatry, Volume 41, Issue 8, August 2026.
ABSTRACT Background Hypertension and dyslipidaemia are key modifiable risk factors of dementia, and the combined use of statins and antihypertensive medications (AHMs) may offer protective benefits. However, evidence on specific combinations remains limited.
Eyayaw Ashete Belachew, Gregory M. Peterson, Mohammed S. Salahudeen, Woldesellassie M. Bezabhe   +3 more
wiley   +1 more source

Risk of Psychiatric Worsening With GLP‐1 Receptor Agonist Use in Patients With Type 2 Diabetes and Treated Depression

Diabetes, Obesity and Metabolism, Volume 28, Issue 8, Page 7048-7057, August 2026.
ABSTRACT Aims To compare 1‐year psychiatric outcomes after GLP‐1 receptor agonist (GLP‐1 RA) versus sodium‐glucose cotransporter‐2 inhibitor (SGLT2i) initiation in patients with type 2 diabetes and treated depression. Materials and Methods We conducted a retrospective active‐comparator, new‐user cohort study using electronic health records from the ...
Yu Chang, Ming‐Hong Hsieh, Po‐Chung Ju, Cheng‐Chen Chang   +3 more
wiley   +1 more source

A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany

Orphanet Journal of Rare Diseases
Background Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, potentially fatal lysosomal storage disease that exhibits a broad spectrum of clinical phenotypes.
Eugen Mengel, Nicole Muschol, Natalie Weinhold, Athanasia Ziagaki, Julia Neugebauer, Benno Antoni, Laura Langer, Maja Gasparic, Sophie Guillonneau, Marie Fournier, Fernando Laredo, Ruth Pulikottil-Jacob   +11 more
doaj   +1 more source

Acid sphingomyelinase deficiency and Gaucher disease in adults: Similarities and differences in two macrophage storage disorders

JIMD Reports
The lysosomal storage diseases chronic visceral acid sphingomyelinase deficiency (ASMD) and Gaucher disease type 1 (GD1) are both macrophage storage disorders with overlapping clinical manifestations.
Eline C. B. Eskes, Laura vanDussen, Johannes M. F. G. Aerts, Martijn J. C. van derLienden, Mario Maas, Erik M. Akkerman, André B. P. vanKuilenburg, Barbara Sjouke, Carla E. M. Hollak   +8 more
doaj   +1 more source