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Quoted phrase not found in phrase index: "Hypertrophic osteoarthropathy, primary, autosomal dominant"
Page 1
Monoallelic mutations in SLCO2A1 cause autosomal dominant primary hypertrophic osteoarthropathy.
Xu Y, Zhang Z, Yue H, Li S, Zhang Z. Xu Y, et al. J Bone Miner Res. 2021 Aug;36(8):1459-1468. doi: 10.1002/jbmr.4310. Epub 2021 May 5. J Bone Miner Res. 2021. PMID: 33852188 Free article.
Primary hypertrophic osteoarthropathy (PHO) is a rare disease inherited as a recessive or irregular dominant trait and characterized by digital clubbing, pachydermia, and periostosis. Biallelic mutations in HPGD and SLCO2A1, disturbing prostaglandin E( …
Primary hypertrophic osteoarthropathy (PHO) is a rare disease inherited as a recessive or irregular dominant tra …
Clubbing and koilonychia.
Stone OJ. Stone OJ. Dermatol Clin. 1985 Jul;3(3):485-90. Dermatol Clin. 1985. PMID: 3830509
When a patient has spoon nails or clubbing, a thorough but reasonable search for a primary etiology should be made. It should be recalled that when the complete syndrome of hypertrophic osteoarthropathy is present and joint pain is prominent, the possibility …
When a patient has spoon nails or clubbing, a thorough but reasonable search for a primary etiology should be made. It should be reca …
Pseudoclubbing: is it different from clubbing?
Santiago MB, Lima I, Feitosa AC, Braz Ade S, Miranda LG. Santiago MB, et al. Semin Arthritis Rheum. 2009 Jun;38(6):452-7. doi: 10.1016/j.semarthrit.2008.01.018. Epub 2008 Apr 18. Semin Arthritis Rheum. 2009. PMID: 18378280 Review.
METHODS: The PubMed database (1950-2006) was searched for the keyword "pseudoclubbing" and all published manuscripts and secondary references were examined. An additional search using the keywords "clubbing" and "hypertrophic osteoarthropathy"--and limited to those …
METHODS: The PubMed database (1950-2006) was searched for the keyword "pseudoclubbing" and all published manuscripts and secondary reference …
Clubbing in patients with fibrotic interstitial lung diseases.
van Manen MJG, Vermeer LC, Moor CC, Vrijenhoeff R, Grutters JC, Veltkamp M, Wijsenbeek MS. van Manen MJG, et al. Respir Med. 2017 Nov;132:226-231. doi: 10.1016/j.rmed.2017.10.021. Epub 2017 Nov 2. Respir Med. 2017. PMID: 29229102 Free article.
The degree of clubbing did not correlate with FVC or TLCOc (p > 0.2) or with quality of life scores, but lower mean TLCOc scores were seen in patients with clubbing than in those without. ...
The degree of clubbing did not correlate with FVC or TLCOc (p > 0.2) or with quality of life scores, but lower mean TLCOc score …
Clinical and Genetic Characteristics of Korean Patients Diagnosed with Chronic Enteropathy Associated with SLCO2A1 Gene: A KASID Multicenter Study.
Hong HS, Baek J, Park JC, Lee HS, Park D, Yoon AR, Park SJ, Hong SN, Koh SJ, Lee CK, Lee BI, Hwang SW, Park SH, Myung SJ, Yang SK, Song K, Ye BD; IBD Research Group of the Korean Association for the Study of Intestinal Diseases. Hong HS, et al. Gut Liver. 2022 Nov 15;16(6):942-951. doi: 10.5009/gnl210415. Epub 2022 May 25. Gut Liver. 2022. PMID: 35611666 Free PMC article.
The most commonly involved site was the ileum (13/14, 92.9%). Manifestations of primary hypertrophic osteoarthropathy (PHO), such as digital clubbing, pachydermia, and periostosis were observed in five patients (28.6%) and two male patients and one fem …
The most commonly involved site was the ileum (13/14, 92.9%). Manifestations of primary hypertrophic osteoarthropathy ( …
Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy.
Alban JJ, Arango-Ramirez A, Olave-Rodriguez JA, Nastasi-Catanese JA, Rodriguez LX. Alban JJ, et al. Cold Spring Harb Mol Case Stud. 2024 Jan 10;9(4):a006291. doi: 10.1101/mcs.a006291. Print 2023 Dec. Cold Spring Harb Mol Case Stud. 2024. PMID: 37591693 Free PMC article.
Here, we highlight the case of a 31-yr-old man who had clinical features of primary hypertrophic osteoarthropathy (PHOAR) and harbored a homozygous variant (c.38C > A, p.Ala13Glu) in the HPGD gene, as indicated by whole-exome sequencing (WES). ...In reasse …
Here, we highlight the case of a 31-yr-old man who had clinical features of primary hypertrophic osteoarthropathy (PHOA …
Clinical, Biochemical, and Genetic Features of 41 Han Chinese Families With Primary Hypertrophic Osteoarthropathy, and Their Therapeutic Response to Etoricoxib: Results From a Six-Month Prospective Clinical Intervention.
Li SS, He JW, Fu WZ, Liu YJ, Hu YQ, Zhang ZL. Li SS, et al. J Bone Miner Res. 2017 Aug;32(8):1659-1666. doi: 10.1002/jbmr.3157. Epub 2017 Jun 2. J Bone Miner Res. 2017. PMID: 28425581 Free article. Clinical Trial.
Primary hypertrophic osteoarthropathy (PHO) is a rare inherited disease caused by genetic defects in the prostaglandin metabolism pathway; disturbed prostaglandin E(2) (PGE(2) ) catabolism resulting in increased PGE(2) level is suggested in the pathogenesis. …
Primary hypertrophic osteoarthropathy (PHO) is a rare inherited disease caused by genetic defects in the prostaglandin …
Three novel mutations in the SLCO2A1 gene in two Chinese families with primary hypertrophic osteoarthropathy.
Cheng R, Li M, Guo Y, Yao Y, Gao C, Yao Z. Cheng R, et al. Eur J Dermatol. 2013 Sep-Oct;23(5):636-9. doi: 10.1684/ejd.2013.2154. Eur J Dermatol. 2013. PMID: 24153155
BACKGROUND: Primary hypertrophic osteoarthropathy (PHO (MIM 167100)) is a rare genetic disease characterized by pachyderma, periostosis and digital clubbing. ...Missense mutations p.Gly183Arg and p.Asn534Lys, at highly conserved positions, were both predic …
BACKGROUND: Primary hypertrophic osteoarthropathy (PHO (MIM 167100)) is a rare genetic disease characterized by pachyde …
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy.
Sinibaldi L, Harifi G, Bottillo I, Iannicelli M, El Hassani S, Brancati F, Dallapiccola B. Sinibaldi L, et al. Clin Exp Rheumatol. 2010 Mar-Apr;28(2):153-7. Epub 2010 May 13. Clin Exp Rheumatol. 2010. PMID: 20406614 Review.
OBJECTIVES: Homozygous mutations in HPGD gene, encoding 15-hydroxyprostaglandin dehydrogenase, have recently been associated with primary hypertrophic osteoarthropathy (PHO). So far, only 7 HPGD alterations are known. ...Pachydermia (54%) was mild and mostly …
OBJECTIVES: Homozygous mutations in HPGD gene, encoding 15-hydroxyprostaglandin dehydrogenase, have recently been associated with primary …
Secondary hypertrophic osteoarthropathy in a male from the Early Medieval settlement of Lauchheim, Germany.
Flohr S, Jasch I, Langer A, Riesenberg M, Hahn J, Wisotzki A, Kierdorf H, Kierdorf U, Wahl J. Flohr S, et al. Int J Paleopathol. 2018 Mar;20:72-79. doi: 10.1016/j.ijpp.2017.10.013. Epub 2017 Nov 21. Int J Paleopathol. 2018. PMID: 29496219
Hypertrophic osteoarthropathy (HOA) is rarely diagnosed in archaeological human skeletons. ...No osseous changes were found on the ribs, but signs of osteoclastic resorption were observed on the dorsal surface of the sternal body, which might indicate a retro …
Hypertrophic osteoarthropathy (HOA) is rarely diagnosed in archaeological human skeletons. ...No osseous changes were found on …
39 results