Results 111 to 120 of about 2,514,688 (144)

P868 Clinical features of chronic enteropathy associated with SLCO2A1 gene

Journal of Crohn's and Colitis, 2023
Abstract Background Chronic enteropathy associated with the SLCO2A1 gene (CEAS) is a hereditary disease caused by mutations of the SLCO2A1 gene which encodes a prostaglandin transporter. This disease is rare and intractable characterized by persistent blood and protein loss. There are few reports from
J Umeno, Y Fuyuno, T Torisu, Y Matsuno, M Esaki, S Yanai, N Ohmiya, T Hisamatsu, K Watanabe, N Hosoe, H Ogata, F Hirai, T Hisabe, T Matsui, T Kitazono, T Matsumoto   +15 more
openaire   +1 more source

SLCO2A1 Gene Variant in a Portuguese Patient with Primary Hypertrophic Osteoarthropathy

2022
Primary hypertrophic osteoarthropathy is a rare disease characterized by three major clinical symptoms: pachydermia,periostosis, and digital clubbing. Diagnosis of primary hypertrophic osteoarthropathy is based on clinical and radiographiccharacteristics confirmed by genetic studies.
Cardoso, Ivana, Português, Português, Português, Português   +4 more
openaire   +3 more sources

Primary hypertrophic osteoarthropathy with severe arthralgia identified by gene mutation of SLCO2A1

Modern Rheumatology Case Reports, 2021
Male, 41 years old (yo) had been complaining of severe arthralgia. Past History indicated obstruction of intestinal tract at 12 yo and gastric ulcer at 13 yo. He had been suffered from polyarthralgia especially at PIP and MP joints of both hands from 38 yo.
Tatsuo, Ishizuka, Kei, Fujioka, Ichiro, Mori, Tomofumi, Takeda, Masayuki, Fuwa, Takahide, Ikeda, Koichiro, Taguchi, Hiroyuki, Morita, Kazuhiko, Nakabayashi, Hironori, Niizeki   +9 more
openaire   +2 more sources

Chronic enteropathy associated with SLCO2A1 gene: A case report and literature review

Clinics and Research in Hepatology and Gastroenterology, 2019
A case of chronic enteropathy associated with SLCO2A1 gene (CEAS) is presented. The female patient was readmitted four times during a three-year follow-up period for intractable dropsy and anemia. Multiple ulcers of small bowel wall were revealed by endoscopic examination. Computed tomography enterography (CTE) and magnetic resonance enterography (MRE)
Ning Dai, Shizheng Zhang
exaly   +3 more sources

A novel mutation in the SLCO2A1 gene in a Chinese family with primary hypertrophic osteoarthropathy

Gene, 2013
Primary hypertrophic osteoarthropathy (PHO) is a rare monogenetic disease that closely mimics hypertrophic osteoarthropathy secondary to pulmonary or other pathology. The study of PHO provides an opportunity to understand both the pathogenesis of hypertrophic osteoarthropathy and the functions of the underlying genes.
Zeng, Zhang, Jin-Wei, He, Wen-Zhen, Fu, Chang-Qing, Zhang, Zhen-Lin, Zhang   +4 more
openaire   +2 more sources

Pachydermoperiostosis of the complete type: A novel missense mutation c.101T > C in the SLCO2A1 gene

European Journal of Medical Genetics, 2017
We report on a rare case of pachydermoperiostosis (PDP) in a 25-year-old male who was admitted to our hospital because of enlargement of fingers and toes. Through examination, we found some typical features on the patient including finger clubbing, periostosis, pachydermia, and cutis verticis gyrata (CVG). But laboratory tests were almost within normal
Shuqin Guo, Wenbin Ma
exaly   +3 more sources

The complete type of pachydermoperiostosis: A novel nonsense mutation p.E141* of the SLCO2A1 gene

Journal of Dermatological Science, 2014
Atsushi Ōtsuka, Jun Kudoh, Takashi Sasaki   +2 more
exaly   +2 more sources

Two novel mutations in the SLCO2A1 gene in a Chinese patient with primary hypertrophic osteoarthropathy

Gene, 2014
Primary hypertrophic osteoarthropathy (PHO) is a rare monogenetic disease characterized by digital clubbing, periostosis and pachydermia. Mutations in the 15-hydroxy-prostaglandin dehydrogenase (HPGD) gene and solute carrier organic anion transporter family member 2A1 (SLCO2A1) gene have been shown to be associated with PHO. Here, we described clinical
Zeng, Zhang, Jin-Wei, He, Wen-Zhen, Fu, Chang-Qing, Zhang, Zhen-Lin, Zhang   +4 more
openaire   +2 more sources

Chronic Enteropathy Associated with SLCO2A1 Gene (CEAS)

exaly   +2 more sources

A Rare Case of Primary Hypertrophic Osteoarthropathy Secondary to SLCO2A1 Gene Mutation

Journal of the Association of Physicians of India
Hypertrophic osteoarthropathy (HOA), also known as pachydermoperiostosis is an unusual cause of digital clubbing. It is a rare osteo-arthro-dermopathic syndrome which is associated with clubbing of fingers, thickening of skin in the face and scalp, seborrhea, and subperiosteal new bone genesis.
Nagaraja, Kamath, N, Vinay, G N, Aravind
openaire   +2 more sources