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2 raisons identifiées
Praticien-chercheur
9 articles scientifiques publiés — formation continue solide
Délais de RDV courts dans la région
82.6 rhumatos / 100 000 hab. — département bien doté
✨ Génération du profil synthétique IA en cours…
CABINET DU DR PHILIPPE DIAS
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Journal of integrative medicine · 2016
Journal of diabetes and metabolic disorders · 2013
Abstract Background and aims Glycogen storage disease type Ia (GSD Ia) is a rare metabolic disorder, caused by deficient activity of glucose-6-phosphatase-α. It produces fasting induced hypoglycemia and hepatomegaly, usually manifested in the first semester of life. Besides, it is also associated with growth delay, anemia, platelet dysfunction, osteopenia and sometimes osteoporosis. Hyperlipidemia and hyperuricemia are almost always present and hepatocellular adenomas and renal dysfunction frequent late complications. Methods The authors present a report of five adult patients with GSD Ia followed in internal medicine appointments and subspecialties. Results Four out of five patients were diagnosed in the first 6 months of life, while the other one was diagnosed in adult life after the discovery of hepatocellular adenomas. In two cases genetic tests were performed, being identified the missense mutation R83C in one, and the mutation IVS4-3C > G in the intron 4 of glucose-6-phosphatase gene, not previously described, in the other. Growth retardation was present in 3 patients, and all of them had anemia, increased bleeding tendency and hepatocellular adenomas; osteopenia/osteoporosis was present in three cases. All but one patient had marked hyperlipidemia and hyperuricemia, with evidence of endothelial dysfunction in one case and of brain damage with refractory epilepsy in another case. Proteinuria was present in two cases and end-stage renal disease in another case. There was a great variability in the dietary measures; in one case, liver transplantation was performed, with correction of the metabolic derangements. Conclusions Hyperlipidemia is almost always present and only partially responds to dietary and drug therapy; liver transplantation is the only definitive solution. Although its association with premature atherosclerosis is rare, there have been reports of endothelial dysfunction, raising the possibility for increased cardiovascular risk in this group of patients. Being a rare disease, no single metabolic center has experience with large numbers of patients and the recommendations are based on clinical experience more than large scale studies.
European journal of case reports in internal medicine · 2024
Q fever is a zoonotic infection caused by the pathogen Coxiella burnetii, and patients can present with a wide spectrum of clinical manifestations, depending on whether it is an acute or a chronic infection. We present the case of a 61-year-old male with fatigue, posterior thoracalgia, intermittent fever, night sweats and weight loss for a month. After an extensive workup, he was diagnosed with acute Q fever with large-vessel vasculitis. The FDG-PET/CT scan suggested an active vasculitis specifically in the thoracic aorta, proximal abdominal aorta, subclavian and carotid vessels, suggesting an immunologic response to acute Q fever infection, barely reported worldwide.
Source PubMed · Recherche par auteur (homonymes possibles, vérifier l'affiliation).
Anais brasileiros de dermatologia · 2026 · Journal Article
Fernandes TRMO, Santos I, Rosado LL, Dias PLL, et al.
European journal of case reports in internal medicine · 2024 · Journal Article
Ramos JC, Santos D, Dias P
Journal of diabetes and metabolic disorders · 2013 · Case Reports
Carvalho PM, Silva NJ, Dias PG, Porto JF, et al.
Journal of surgical case reports · 2025 · Case Reports
Isidoro DM, Castro Mendes J, Dias P, Corte-Real C, et al.
Canadian journal of kidney health and disease · 2021 · Journal Article
Reis T, Ramos de Freitas GR, Reis F, Cascelli de Azevedo ML, et al.
European heart journal. Case reports · 2025 · Case Reports
Ryan T, Luttrell L, Shah A, Lam K, et al.
Biomedicines · 2023 · Journal Article
Dias P, Tavares I, Fonseca S, Pozza DH
Journal of integrative medicine · 2016 · Comparative Study
Dias PA, Guimarães AB, Albuquerque Ade O, de Oliveira KL, et al.
Acta reumatologica portuguesa · 2010 · Case Reports
Duarte C, Teotónio R, Abreu P, Dias P, et al.