Results 71 to 80 of about 1,942 (174)

Primary hypertrophic osteoarthropathy related gastrointestinal complication has distinctive clinical and pathological characteristics: two cases report and review of the literature

open access: yesOrphanet Journal of Rare Diseases, 2019
Background Primary hypertrophic osteoarthropathy (PHO) is a rare disease related to HPGD and SLCO2A1 gene mutation. Gastrointestinal involvement of PHO is even rarer with unknown pathogenesis. Clinical features of GI complication in PHO mimics other auto-
Qiang Wang   +7 more
doaj   +1 more source

소아청소년기에서 SLCO2A1 gene 연관 만성 장병증 (CEAS) 의 임상 양상 [PDF]

open access: yes, 2022
학위논문(석사) -- 서울대학교대학원 : 의과대학 임상의과학과, 2022.2. 고재성.Background and Aims: The incidence of inflammatory bowel disease (IBD) is increasing worldwide, and many atypical IBDs are being discovered.
임진규
core  

Age‐related variations in prostaglandin E‐major urinary metabolite values in Japanese children

open access: yesPediatrics International, Volume 68, Issue 1, January/December 2026.
Abstract Background Prostaglandin E‐major urinary metabolite (PGE‐MUM) is an emerging noninvasive biomarker used to evaluate clinical and endoscopic activity in patients with inflammatory bowel disease. Previous studies have shown that PGE‐MUM values correlate with colonic inflammation in pediatric ulcerative colitis; however, reference values for ...
Takatoshi Maeyama   +6 more
wiley   +1 more source

Integration of Digital Denture Technology in the Prosthodontic Management of Pediatric Osteopetrosis: A Case Report

open access: yesCase Reports in Dentistry, Volume 2026, Issue 1, 2026.
Osteopetrosis is a rare hereditary disorder characterized by impaired osteoclastic bone resorption, resulting in generalized skeletal sclerosis, increased bone fragility, and a heightened risk of complications such as osteomyelitis. Prosthodontic rehabilitation in pediatric patients is particularly challenging due to ongoing craniofacial growth ...
Athina Niakou   +5 more
wiley   +1 more source

Genome-Wide Analysis Reveals Novel Regulators of Growth in Drosophila melanogaster. [PDF]

open access: yes, 2016
Organismal size depends on the interplay between genetic and environmental factors. Genome-wide association (GWA) analyses in humans have implied many genes in the control of height but suffer from the inability to control the environment.
Bergmann, S.   +4 more
core   +3 more sources

The Concise Guide to PHARMACOLOGY 2025/26: Transporters

open access: yesBritish Journal of Pharmacology, Volume 182, Issue S1, Page S404-S496, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander   +28 more
wiley   +1 more source

Monogenic SLCO2A1 gene mutation presenting as early onset inflammatory bowel disease-A report of rare case with review of literature

open access: yesIndian Journal of Pathology and Microbiology
Chronic enteropathy associated with the SLCO2A1 gene (CEAS) is a rare, autosomal recessive disorder characterized by multiple chronic ulcerative and structuring lesions in the small intestine, primarily affecting the ileum.
Mukund Namdev Sable   +4 more
doaj   +1 more source

Safety and efficacy of cyclooxygenase-2 inhibition for treatment of primary hypertrophic osteoarthropathy: A single-arm intervention trial

open access: yesJournal of Orthopaedic Translation, 2019
Background: Primary hypertrophic osteoarthropathy (PHO) is a rare disease involving joint, bone and skin. Two underlying genes responsible for this disease—hydroxyprostaglandin dehydrogenase (HPGD) and solute carrier organic anion transporter family ...
Lu Yuan   +9 more
doaj   +1 more source

A novel variant in the SLCO2A1 gene in a Chinese patient with chronic gastroenteropathy and primary hypertrophic osteoarthropathy

open access: yesOrphanet Journal of Rare Diseases
Background Chronic enteropathy associated with SLCO2A1 gene (CEAS) results from loss-of-function variants in SLCO2A1, which encodes the prostaglandin transporter (PGT). CEAS follows an autosomal recessive inheritance pattern.
Yimin Dai   +10 more
doaj   +1 more source

Imaging Techniques and Differential Diagnosis for Inflammatory Bowel Disease

open access: yesJournal of the Korean Society of Radiology, 2023
The two main types of inflammatory bowel disease (IBD) are Crohn’s disease and ulcerative colitis. Currently, when IBD is suspected, CT enterography is widely used as an initial imaging test because it can evaluate both the bowel wall and the outside ...
Kyoung Doo Song
doaj   +1 more source

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