Hereditary hypophosphatemic rickets with hypercalciuria.
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Biomedical subjects
Publications and source records attributed to Najia Hajjaj-Hassouni.
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BACKGROUND: The clothing style is an important factor that influences vitamin D production and thus bone mineral density. We performed a case-control study in order to evaluate the effect of veil wearing (concealing clothing) on bone mineral density in Moroccan post menopausal women. METHODS: The cases were osteoporotic women whose disease was assessed by bone mineral density measurement. Each patient was matched with a non osteoporotic woman for age, and body mass index. All our patients were without secondary causes or medications that might affect bone density. The veil was defined as a concealing clothing which covered most of the body including the arms, the legs and the head. This definition is this of the usual Moroccan traditional clothing style. RESULTS: 178 post menopausal osteoporotic patients and 178 controls were studied. The mean age of the cases and the controls was 63.2 years (SD 7) and the mean body mass index was 32.1 (SD 8). The results of crude Odds Ratios analyses indicated that wearing a veil was associated with a high risk of osteoporosis: OR 2.29 (95% CI, 1.38-3.82). Multiparity or a history of familial peripheral osteoporotic fractures had also a significant effect on increasing the osteoporosis risk (ORs: 1.87 (95% CI, 1.05-3.49) and 2.01 (95% CI, 1.20-3.38)). After a multiple regression analysis, wearing the veil and a history of familial osteoporotic fractures remained the both independent factors that increased the osteoporosis risk (ORs: 2.20 (95% CI, 1.22-3.9) and 2.19 (95% CI, 1.12-4.29) respectively). CONCLUSION: our study suggested that in Moroccan post menopausal women, wearing a traditional concealing clothing covering arms, legs and head increased the risk of osteoporosis. Further studies are required to evaluate the clinical impact of the above findings and to clarify the status of vitamin D among veiled women in Morocco.
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Destructive tabetic arthropathy (TA) has become rare in the course of syphilis because of early diagnosis and treatment. TA is difficult to manage because of the severity of the handicap and the absence of a specific treatment. We describe the clinical, biological, and radiological characteristics of TA. In this paper, we performed a retrospective study of 24 patients with TA from 1983 to 2003. Inclusion criteria were typical radiological findings and positive syphilitic serology in blood and/or synovial fluid and/or cerebrospinal fluid. Included in the study were 15 men and 9 women, their mean age was 53.71+/-12.25 years, and the delay of diagnosis was 36.83+/-53.03 months. Thirteen patients (54.2%) had a known primary syphilitis. In the studied cases, 43 of the patients' joints were involved, which concerned knees, hips, the spine, and ankles in 91.66, 8.33, 8.33, and 4.16% of cases, respectively. TA was bilateral in 62.5% and multifocal in 8.3%. The neurological exam found signs suggesting tabes dorsalis in seven cases. The osteoarticular exam showed an abnormal range of mobility (n=25), hydarthrosis, and articular deformation (n=17). Syphilitic serology tests were positive in synovial fluid, cerebrospinal fluid, and blood in 12 (50%), 8 (33.33%), and 24 (100%) cases, respectively. Radiological exam showed atrophic and hypertrophic forms. The frequency and severity of TA in our study may be explained by the frequency of atypical forms of syphilitis and the absence of penicillin in Morocco in the 1950s.
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OBJECTIVE: To estimate the socioeconomic impact of rheumatoid arthritis (RA) in Morocco. MATERIALS AND METHODS: We identified 100 consecutive patients (88 women and 12 men) with RA receiving follow-up either at a teaching hospital or from office-based physicians. For each patient, we recorded direct costs, indirect costs (productivity losses), and intangible costs (deterioration in the social domain of quality of life). RESULTS: Mean age at symptom onset was 31+/- 13.6 years and mean disease duration was 12.8 +/- 7.8 years. RA-related expenses caused financial difficulties for 90% of patients, resulting in poor treatment compliance (61% of cases) and school absenteeism in the children (19% of cases). Of the 34 patients who had paid jobs at symptom onset, 65% stopped working, 6.9 years on average after the diagnosis. Older age, male gender, and a physically strenuous job were associated with stopping work. Six women (10% of married patients) divorced because of their disease. Sexual problems were reported by 67% of patients. The ability to perform domestic chores was affected in 84% of cases and participation in leisure activities in 46% of cases. CONCLUSION: RA has a major socioeconomic impact on affected families. In addition to the disease itself, the low socioeconomic status of many patients and the inadequate social welfare and health insurance systems contribute to the burden.
Maffucci's syndrome is a congenital nonhereditary syndrome characterized by a combination of enchondromatosis and hemangiomatosis. It is associated with an increased risk of malignancy. We report a case of a 24-year-old woman who developed severe bone distortion due to generalized enchondromas since the age of 2 years. Physical examination showed a marked shortening of both upper and lower limbs and cutaneous hemangioma in the legs. Radiological study showed symmetric well-circumscribed radiolucent cystic lesions in the hands and severe metaphysical irregularity and a shortening of all long bones. The biopsy of the third right metacarpal showed enchondroma tissue. Histological examination of the skin specimen showed a hemangioendothelioma. The diagnosis of Maffucci's syndrome was established. Abdominal ultrasound, mammography, cerebral computed tomography (CT) scan, and cervical CT were normal.
UNLABELLED: Factor VII deficiency (or hypoproconvertinemia) is a rare inherited bleeding disorder that can cause hemarthrosis similar to that seen in hemophilia. We report a case. CASE REPORT: A 28-year-old woman experienced recurrent spontaneous hemarthrosis in both elbows and one knee starting at 2 years of age. She sought advice for an episode of bleeding in the left knee. The prothrombin level was decreased to 15% and the activated partial thromboplastin time was normal. Radiographs disclosed advanced joint destruction in the right shoulder, both elbows, the left knee, and both ankles. She described similar joint symptoms in two cousins. Plasma factor VII was less than 10%. A diagnosis of arthropathy due to an inherited bleeding disorder was given. Triamcinolone hexacetonide was injected into the joint; fresh frozen plasma was given concomitantly as an intravenous infusion. DISCUSSION: Factor VII deficiency is an extremely uncommon bleeding disorder with an estimated prevalence of 1/300,000 to 1/500,000. Bleeding occurs only in homozygotes whose factor VII level is less than 20%. Hemarthrosis is less common than hemophilia, although the characteristics of joint destruction are similar in the two conditions.
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OBJECTIVE: To evaluate clinical, radiological and histological characteristics as well as outcome of pigmented villonodular synovitis (PVNS) in 14 patients. METHODS: This retrospective study examined data from 14 cases of pathologically-confirmed PVNS over a 10-year period (1990-1999). RESULTS: All 14 cases (9 women and 5 men) of PVNS involved the knee. Mean age at diagnosis was 32.7 years. The principal functional signs were mechanical pain and disability. All patients had radiographs (normal for 8 patients); 3 had arthrography, which found diffuse cyst formations, 2 had MRI, which showed images characteristic of PVNS, and 4 had arthroscopy. All patients underwent complete surgical excision, and 4 also had osmic acid synoviorthesis. Recurrence occurred in 4 patients, within 10 months on average. CONCLUSION: MRI and arthroscopy improve the early management of pigmented villonodular synovitis.
UNLABELLED: Several cases of tuberculous arthritis with lymphocytic joint fluid have been reported. This may explain in part the insidious course of tuberculous arthritis. We studied the characteristics of lymphocytic fluid from joints affected with tuberculosis and we looked for specific clinical, radiological, or laboratory test features, comparatively to patients with neutrophilic joint fluid. PATIENTS AND METHODS: We retrospectively reviewed the medical records of 30 patients with tuberculous arthritis, 20 men and 10 women with a mean age of 47.7+/-21.4 years (10-75) and a mean symptom duration at diagnosis of 25.7+/-27.6 months (2-120). RESULTS: Mean joint fluid leukocyte count was 15,181+/-15,635 per mm3 (600-40,000). In joint fluid, neutrophils predominated in 24 patients and lymphocytes in six (20%) patients. Blood cell counts showed no predominance of lymphocytes. No specific clinical, radiological, or laboratory test features were noted in the group with lymphocytic joint fluid. CONCLUSION: We found that a predominance of lymphocytes in joint fluid from patients with tuberculous arthritis was uncommon and was not associated with specific features.
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Osteochondroma, or exostosis, is the most common of all benign bone tumors. Spinal osteochondromas are uncommon but may cause neurological compromise. We report two cases of spinal cord compression by osteochondromas. One patient was a 17-year-old man with hereditary multiple exostoses who was presented with spastic paraparesis, a sensory level at T3-T4, and a pyramidal syndrome. Vertebral exostosis was suspected by magnetic resonance imaging and confirmed by histological examination. Surgical decompression was followed by complete resolution of the neurological impairments. The other patient was a 19-year-old man with spastic paralysis of the right lower limb and a pyramidal syndrome. Whereas magnetic resonance imaging suggested a neurofibroma, histological features were those of osteochondroma. Nine months elapsed from symptom onset to surgery. This delay led to residual neurological impairments, which resolved almost completely after rehabilitation therapy. Vertebral osteochondromas contribute only 1.3-4.1% of all osteochondromas. The lesion may be solitary or a manifestation of hereditary multiple exostosis. Magnetic resonance imaging shows the exact location of the lesion, most notably with relation to neighboring neurological structures. Spinal cord compression is uncommon and usually has a favorable outcome provided surgical decompression is performed before major neurological damage develops.
UNLABELLED: Chronic osteomyelitis of the hand is uncommon and affects the metacarpals in only 3% of cases. We report a case of chronic osteomyelitis involving two metacarpals, and we present a review of the relevant literature. CASE-REPORT: A 41-year-old man with a 5-year history of psoriatic arthritis was admitted for a swelling over the dorsum of the left hand. At admission, he was in good general health and had no fever. In addition to the swelling, he had synovitis of the right ankle and psoriasis over the hands and elbows. The spine and sacroiliac joints were normal to physical examination. The erythrocyte sedimentation rate was 110 mm/h, the C-reactive protein level was 48 mg/l, and the leukocyte count was 9600/mm3. A radiograph of the hands disclosed a bone-within-bone image in the second and third metacarpals of the left hand and arthritis of the left carpal joints. A fluid collection over the dorsum of the left hand was visualized by ultrasonography. Aspiration recovered serous fluid that contained no organisms by microscopic examination or culture. Investigations for tuberculosis and a serological test for HIV infection were negative. Computed tomography showed a florid periosteal reaction encasing the diaphyses of the second and third metacarpals and enclosing bony sequestra; abnormal carpal bone architecture and thickening of the soft tissues related to joint effusions were seen also. The diagnosis was chronic osteomyelitis of the metacarpals. Two antimicrobials active against staphylococci were given and the bony sequestra were removed surgically. Histological examination of the operative specimens showed nonspecific osteitis. After 3 months of treatment, the outcome was favorable. CONCLUSION: Chronic osteomyelitis of the metacarpals is exceedingly rare but results in severe functional incapacitation and major social and economic burdens. Our case illustrates an unusual pattern with involvement of two metacarpals in the same hand. An early diagnosis followed by prompt treatment increases the likelihood of a favorable outcome.
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