Results 101 to 110 of about 2,284 (209)

Clinical and genetic characteristics of Chinese patients diagnosed with chronic enteropathy associated with SLCO2A1 gene

Orphanet Journal of Rare Diseases
Background and aims Chronic enteropathy associated with SLCO2A1 gene is a rare intestinal disease caused by loss-of-function SLCO2A1 mutations, with clinical and genetic characteristics remaining largely unknown, especially in Chinese patients.
Qing Shang, Yimin Dai, Jingyi Huang, Wei Liu, Weixun Zhou, Yaping Liu, Hong Yang, Qiang Wang, Yue Li   +8 more
doaj   +1 more source

Feline Hypertrophic Osteopathy Associated with Congenital Megaesophagus: Two Case Reports and Literature Review [PDF]

, 2020
ΔΕΝ ΔΙΑΤΙΘΕΤΑΙ ΠΕΡΙΛΗΨΗThis report describes two cases of feline hypertrophic osteopathy (HO) associated with congenital megaesophagus (ME). The diagnosis was based upon case history, physical examination, radiography and laboratory investigations.
ABU-SEIDA, A.M., ALI, K.M., HASSAN, E.A., TORAD, F.A.   +3 more
core   +1 more source

[Pachydermoperiostosis (primary hypertrophic osteoarthropathy)].

Medicina, 2006
Pachydermoperiostosis or primary hypertrophic osteoarthropathy is a rare disease characterized by cutaneous and osteoarthicular involvement. We describe two patients with finger clubbing, watch crystal nails, bones thickenings, arthritis and different grades of skin affection, without other clinical manifestations. Both did not know of having relatives
Javier A, Cavallasca, Veronica A, Malah, Daniel E, Fernandez, Sergio G, Carbia, Gustavo G, Nasswetter   +4 more
openaire   +1 more source

A genomic atlas of human adrenal and gonad development [version 1; referees: awaiting peer review] [PDF]

, 2017
Background: In humans, the adrenal glands and gonads undergo distinct biological events between 6-10 weeks post conception (wpc), such as testis determination, the onset of steroidogenesis and primordial germ cell development.
Achermann, JC, Barenco, M, Buonocore, F, Del Valle, I, Duncan, AJ, Gerrelli, D, Hubank, M, Lin, L, Parnaik, R, Shah, S   +9 more
core  

[Pachydermoperiostosis (primary hypertrophic osteoarthropathy)].

Anales de medicina interna (Madrid, Spain : 1984), 1991
A case of pachydermaperiostosis in a 16 year old male is presented. The main clinical features were bilateral mechanical gonalgia, acropachy, bilateral palpebral ptosis and hyperhydrosis. The diagnosis was confirmed by X-ray, showing a wide, symmetric periostosis. The literature is reviewed and the differential diagnosis is commented on.
N, Gómez Rodríguez, A, Atanes Sandoval, J, Graña Gil, B, Aspe de la Iglesia, J M, Souto Crespo, M L, Comesaña Castro   +5 more
openaire   +1 more source

Crohn’s disease associated with pachydermoperiostosis [PDF]

, 1999
Pachydermoperiostosis is a rare hereditary syndrome characterized by finger clubbing, periosteal change, pachydermia and autonomic nervous system symptoms such as facial flushing and hy perhidrosis.
김원호
core  

Hypertrophic pulmonary osteoarthropathy secondary to bronchial adenocarcinoma and coexisting pulmonary tuberculosis: a case report [PDF]

, 2008
George Ntaios, Alexandra Adamidou, Dimitrios Karamitsos, Murat Karkuca, David Armstrong, X Vandemergel, A Watanabe, S Cicėnas, NA Dacosta, M Marinez-Levin   +9 more
core   +1 more source

Hypertrophic osteoarthropathy as the cause of a super scan of the bone in a patient with prostate cancer: a case report [PDF]

, 2008
Boris L Kanen, Ruud JLF Loffeld, G Bruwer, C COURY, JF HAMMARSTEN, Z Kuloglu, CR Horn, D Koischwitz, B Morgan, X Vandemergel, A Ali, O Buckley, FM Chybowski   +12 more
core   +1 more source

Clubbing [PDF]

, 2013
Gibb, C, Miller, R, Smith, PJ
core   +1 more source

P03-020 - A novel 15-HPGD mutation in pachydermoperiostosis [PDF]

, 2013
A Tolun, B Gülek, E Erken, F Yıldız, HT Özer, Ç Köroğlu   +5 more
core   +1 more source