Results 111 to 120 of about 10,313 (226)

Real‐world data of Brazilian adults with X‐linked hypophosphatemia (XLH) treated with burosumab and comparison with other worldwide cohorts

Molecular Genetics &Genomic Medicine, Volume 12, Issue 2, February 2024.
Abstract Background Disease‐related variants in PHEX cause XLH by an increase of fibroblast growth factor 23 (FGF23) circulating levels, resulting in hypophosphatemia and 1,25(OH)2 vitamin D deficiency. XLH manifests in early life with rickets and persists in adulthood with osseous and extraosseous manifestations.
Maria Helena Vaisbich, Antônio César Paulillo de Cillo, Bárbara Campolina C. Silva, Catarina Brasil DÁlva, Érico Higino de Carvalho, Juliana M. C. M. de Almeida, Larissa L. M. Marques, Marcia Ribeiro, Mauro Borghi M. da Silva, Paula Frassinetti V. de Medeiros, Pedro Henrique Mendes   +10 more
wiley   +1 more source

Acetaminophen as a possible safer alternative for reducing prostaglandin E2‐major urinary metabolites concentrations and alleviating joint pain in pachydermoperiostosis

JEADV Clinical Practice, Volume 4, Issue 1, Page 277-280, March 2025.
Tomoya Takegami, Takashi Nomura, Satoru Yonekura, Akiyoshi Senda, Kazue Yoshida, Atsuhito Seki, Kazuhiko Nakabayashi, Tadakazu Hisamatsu, Hiroki Kitamoto, Shuji Yamamoto, Yusuke Honzawa, Hiroshi Seno, Hironori Niizeki, Kenji Kabashima   +13 more
wiley   +1 more source

Pachydermoperiostosis (Touraine–Solente–Gole syndrome): a case report

Journal of Medical Case Reports, 2019
Background Pachydermoperiostosis (PDP) is a rare disorder characterized by clubbing of the fingers, thickening of the skin (pachyderma), and excessive sweating (hyperhidrosis).
Amir Joshi, Gaurav Nepal, Yow Ka Shing, Hari Prasad Panthi, Suman Baral   +4 more
doaj   +1 more source

A Unique Case Report of Hypertrophic Osteoarthropathy Associated With Endometrial Cancer and Literature Review. [PDF]

, 2017
Introduction:  In this manuscript, we present an oncological case of hypertrophic osteoarthropathy (HOA) associated with endometrial cancer.Presentation of the case:  A 46 year-old woman with a history of endometrial cancer (ER+/PR+) presented with ...
Hill, Ebone'D, Nanjappa, Sowmya, Pina, Yolanda   +2 more
core  

Hypertrophic pulmonary osteoarthropathy with primary lung cancer

Oncology Letters, 2014
Hypertrophic pulmonary osteoarthropathy (HPO) is a rare paraneoplastic syndrome that is frequently associated with lung cancer; however, the incidence of clinically apparent HPO is not well known. The clinical data of 6,151 patients with advanced lung cancer between January 1996 and December 2008 were retrospectively analyzed in Zhejiang Cancer ...
QIAN, XINYU, QIN, JING
openaire   +3 more sources

Arthroscopic synovectomy and radiosynoviorthesis: a treatment option for recurrent arthritis symptoms in patients with pachydermoperiostosis

Reumatismo, 2013
Pachydermoperiostosis as the primary form of hypertrophic osteoarthropathy is a rare hereditary disorder with a number of characteristic findings, e.g. periosteal hypertrophy, digital clubbing and pachydermia.
S. Warwas, C. Specker, M. Jäger, S. Landgraeber   +3 more
doaj   +1 more source

Novel SLCO2A1 mutations cause gender-differentiated pachydermoperiostosis

Endocrine Connections, 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.
Lijuan Yuan, Xihui Chen, Ziyu Liu, Dan Wu, Jianguo Lu, Guoqiang Bao, Sijia Zhang, Lifeng Wang, Yuanming Wu   +8 more
doaj   +1 more source

Kashin Beck Disease: more than just osteoarthrosis [PDF]

, 2010
The purpose of this study was to investigate the influence of body function, activities and pain on the level of activity in adults with Kashin Beck Disease (KBD).
Changlong Yu, Karin Schepman, Milanka M. Visser, Raoul H. H. Engelbert, Rien de Vos   +4 more
core   +3 more sources

Localized fibrous tumours of the pleura: 15 new cases and review of the literature [PDF]

, 2017
Objective: To present a series of localized fibrous tumours of the pleura (LFTP), to define the clinical and histopathological diagnostic criteria of this tumour, and to determine the optimal treatment and follow-up.
Boumghar, M., Gebhard, S., Genton, C.Y., Peloponisios, N., Suter, M.   +4 more
core  

2025 ACVIM Forum Research Abstract Program

Journal of Veterinary Internal Medicine, Volume 39, Issue 6, November/December 2025.
wiley   +1 more source