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Kabi F Mkinsi O Janani S Raissouni N 《La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne》2006,27(9):710-712
INTRODUCTION: The pachydermoperiostosis (PDP) or primitive hypertrophic osteoarthropathy (HOA) is a rare hereditary disease. CASE RECORD: We report a 22-year-old man born to consanguineous marriage who presented presented with PDP. This patient disclosed an arthropathy, a clubbing, a diffuse periostosis, and a pachyderma of the hands, the feet and the forehead. All the examinations that were performed to look for an etiology remained negative. Diagnosis of PDP was considered and the patient treated with colchicine. DISCUSSION: We discuss the diagnostic issues raised by PDP, especially with the secondary HOA and chronic inflammatory rheumatisms. 相似文献
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Jihane Sekkat Ouafaa Rachidi Saadia Janani Ouafaa Mkinsi 《Joint, bone, spine : revue du rhumatisme》2012,79(5):504-506
Avascular necrosis (AVN) is idiopathic in about 40% of cases. The pathophysiology of avascular necrosis remains incompletely elucidated. Here, we report a case that underlines the role for inherited factors in AVN of the femoral heads. Idiopathic AVN of the femoral heads occurred in five members of the same family (a woman, her two paternal aunts, her male paternal cousin and her female paternal cousin) at a mean age of 42.4 years (range, 33–58 years). Standard pelvic radiographs showed Arlet and Ficat stage 4 AVN in three patients and stage 3 in two patients. None of the patients had a history of glucocorticoid therapy, alcohol abuse, or trauma. All five patients underwent investigations for a cause, including blood cell counts, a lipid profile, coagulation tests, testing for antinuclear antibodies, hemoglobin electrophoresis, ultrasonography of the abdomen, and standard radiographs of the long limb bones. The results were normal or negative, ruling out known hereditary causes of AVN such as sickle cell anemia and Gaucher disease. Many cases of familial AVN of the femoral head have been described in patients with sickle cell anemia or Gaucher disease. However, only five families with idiopathic familial AVN of the femoral heads have been reported (three in the US and two in Taiwan). All the patients in these families had isolated bilateral AVN of the femoral heads without AVN at other sites. 相似文献
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Kabi F Mkinsi O Zrigui J 《La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne》2006,27(7):558-560
INTRODUCTION: Pregnancy-associated osteoporosis is a rare disorder and its pathophysiology remains unknown. EXEGISIS: We report a case of pregnancy-associated osteoporosis in a 27-year-old primiparous patient, revealed by acute lumbar pain and a right costal pain during the last month of pregnancy. The standard radiographs showed multiple vertebral compression fracture and a 10th rib fracture. The diagnosis of osteoporosis was established by osteodensitometry. Diagnostic work-up excluded a secondary osteoporosis, and the outcome was favourable with an increase of bone mineral density after 2 years of treatment with calcium, vitamin D and alendronate 10 mg/j. CONCLUSION: Although rare, diagnosis of pregnancy-associated osteoporosis should be suspected when thoracic or lumbar spine pain occur during pregnancy or in the post-partum period as it can lead to vertebral or peripheral fractures. 相似文献
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Laila Ait Baba Fatima Ailal Naima El Hafidi Marjorie Hubeau Fabienne Jabot-Hanin Noufissa Benajiba Zahra Aadam Francesca Conti Caroline Deswarte Leila Jeddane Ayoub Aglaguel Ouafaa El Maataoui Ahmed Tissent Chafiq Mahraoui Jilali Najib Ruben Martinez-Barricarte Laurent Abel Norddine Habti Rachid Saile Jean-Laurent Casanova Jacinta Bustamante Hanane Salih Alj Ahmed Aziz Bousfiha 《Journal of clinical immunology》2014,34(4):452-458