Results 31 to 40 of about 2,514,688 (144)

Differential Diagnosis of Acromegaly: Pachydermoperiostosis Two New Cases from Turkey

JCRPE, 2022
Pachydermoperiostosis (PDP), also known as primary hypertrophic osteoarthropathy, is a rare genetic disorder characterized by pachyderma and periostosis.
Emine Kartal Baykan, Ayberk Türkyılmaz
doaj   +1 more source

Atypical primary hypertrophic osteoarthropathy diagnosed with a novel SLCO2A1 gene mutation

Imaging, 2023
AbstractPrimary hypertrophic osteoarthropathy (HOA) is a rare condition with no identifiable cause, accounting for 3%–5% of all HOA cases. It is challenging to identify incomplete primary HOA, which can be misdiagnosed as other hypertrophic periostitis diseases.
Pham Hoai Thu, Do-Thi Huyen Trang, Luu Canh Linh, Nguyen Minh Duc   +3 more
openaire   +1 more source

SLCO2A1 mutation-mediated vascular endothelial cell dysfunction contributes to chronic enteropathy(CEAS) development and progression [PDF]

Jichu yixue yu linchuang
Objective To investigate the pathogenic mechanism of chronic enteropathy associated with SLCO2A1 with SLCO2A1 gene(CEAS), a hereditary disease caused by SLCO2A1 mutations, and to provide theoretical insight into potential therapeutic strategies.
ZHANG Yiyao, YUN Longxi, HUANG Jingyi, LI Xiaoyu, YUAN Jingyi, LI Yue, LIU Changzheng
doaj   +1 more source

Primary hypertrophic osteoarthropathy: genetics, clinical features and management

Frontiers in Endocrinology, 2023
Primary hypertrophic osteoarthropathy (PHO) is a genetic disorder mainly characterized by clubbing fingers, pachydermia and periostosis. Mutations in the HPGD or SLCO2A1 gene lead to impaired prostaglandin E2 (PGE2) degradation, thus elevating PGE2 ...
Qi Lu, Yang Xu, Zeng Zhang, Shanshan Li, Zhenlin Zhang   +4 more
doaj   +1 more source

Characterization of Mineral and Bone Metabolism Biomarkers in a Chinese Consanguineous Twin Family with Primary Hypertrophic Osteoarthropathy

International Journal of Endocrinology, 2020
Purpose. Primary hypertrophic osteoarthropathy (PHO) is a rare, autosomal, recessive genetic disease characterized by digital clubbing, periostosis, and pachydermia.
Na Li, Yuhang Ma, Yun Jiang, Li You, Yunhong Huang, Yongde Peng, Xiaoying Ding, Li Zhao   +7 more
doaj   +1 more source

Coexistence of Touraine-Solente-Gole syndrome and type 1 neurofibromatosis: A case report

Turkderm Turkish Archives of Dermatology and Venereology, 2021
Pachydermoperiostosis is a rare syndrome that affects the skin and skeletal system. Mutations in the gene encoding hydroxyprostaglandin dehydrogenase (HPGD) are thought to play a role in disease etiopathogenesis.
Selma Korkmaz, Hakan Korkmaz, İjlal Erturan, Havva Hilal Ayvaz, Kuyaş Hekimler Öztürk, Mehmet Yıldırım   +5 more
doaj   +1 more source

Novel SLCO2A1 mutations cause gender-differentiated pachydermoperiostosis [PDF]

, 2018
Primary hypertrophic osteoarthropathy (PHO) is a rare familial disorder with reduced penetrance for females. The genetic mutations associated with PHO have been identified in HPGD and SLCO2A1, which involved in prostaglandin E2 metabolism.
Jianguo Lu, Yuanming Wu, Sijia Zhang, Guoqiang Bao, Dan Wu, Lifeng Wang, Lijuan Yuan, Xihui Chen, Ziyu Liu   +8 more
core   +1 more source

Pachydermoperiostosis: a case report

Остеопороз и остеопатии, 2017
Pachydermoperiostosis (PHO) or primary hypertrophic osteoarthropathy is a rare genetic disease that typically begins during childhood or adolescence. It is characterized by digital clubbing, pachydermia and periosteal reaction and progresses gradually ...
Valentina A. Fursenko, Tatiana A. Grebennikova, Alexey G. Nikitin, Zhanna E. Belaya   +3 more
doaj   +1 more source

Cranberry Proanthocyanidins Mitigate Reflux-Induced Transporter Dysregulation in an Esophageal Adenocarcinoma Model

Pharmaceuticals, 2023
We recently reported that cranberry proanthocyanidins (C-PACs) inhibit esophageal adenocarcinoma (EAC) by 83% through reversing reflux-induced bacterial, inflammatory and immune-implicated proteins and genes as well as reducing esophageal bile acids ...
Yun Zhang, Katherine M. Weh, Bridget A. Tripp, Jennifer L. Clarke, Connor L. Howard, Shruthi Sunilkumar, Amy B. Howell, Laura A. Kresty   +7 more
doaj   +1 more source

An Exome-Wide Sequencing Study of the GOLDN Cohort Reveals Novel Associations of Coding Variants and Fasting Plasma Lipids

Frontiers in Genetics, 2019
Background: Associations of both common and rare genetic variants with fasting blood lipids have been extensively studied. However, most of the rare coding variants associated with lipids are population-specific, and exploration of genetic data from ...
Xin Geng, Xin Geng, Marguerite R. Irvin, Bertha Hidalgo, Stella Aslibekyan, Vinodh Srinivasasainagendra, Ping An, Alexis C. Frazier-Wood, Hemant K. Tiwari, Tushar Dave, Kathleen Ryan, Jose M. Ordovas, Jose M. Ordovas, Jose M. Ordovas, Robert J. Straka, Mary F. Feitosa, Paul N. Hopkins, Ingrid Borecki, Michael A. Province, Braxton D. Mitchell, Donna K. Arnett, Degui Zhi, Degui Zhi   +22 more
doaj   +1 more source