Osteoporosis and Crohn's disease

Osteoporosis and osteopenia have been reported frequently in patients with inflammatory bowel disease, most notably Crohn's disease. OBJECTIVES: To determine the prevalence and risk factors of osteoporosis in patients with Crohn's disease. METHODS: Prospective study of 56 patients with Crohn's disease, 34 men and 22 women with a mean age of 32 +/- 10.4 years (18-54 years) and no history of disorders known to influence bone metabolism. Dual-energy X-ray absorptiometry measurements of bone mineral density (BMD) were obtained at the femoral neck and lumbar spine. A multivariate model including those factors significantly associated with low BMD in the univariate analysis was used to identify independent risk factors. RESULTS: Osteoporosis was found in 35.7% and osteopenia in 23.2% of patients. Low BMD was significantly associated with low body mass index (BMI), colonic involvement, and glucocorticoid therapy. Low BMI was an independent risk factor for low BMD. Malnutrition with BMI < or =18 kg/m2 was noted in 21 patients, of whom 76.2% had low BMD values, as compared to 48.6% of the patients whose BMI was >18 kg/m2 (P = 0.03, odds ratio = 3.4). CONCLUSION: Among risk factors for bone loss in patients with Crohn's disease, malnutrition plays a prominent role that deserves attention when planning treatment programs.     

Imaging diagnosis of an unilateral painful ophtalmoplegia

The ophtalmoplegia may be due to several lesions and the diagnosis is made by imaging modalities. We report the case of a giant aneurysm of the wright intracavernous internal carotid artery revealed by painful ophtalmoplegia with subarachnoid haemorrhage. The diagnosis was made by magnetic resonance imaging and angiography.     

Treatment of gout in 2006

Gout is one of the oldest and better understood among rheumatic diseases. It is characterized by chronic hyperuricemia and recurrent attacks of acute arthritis provoked by release of sodium urate crystals into joints. The manifestations of Gout can be abolished by lifelong urate-lowering therapy maintainine serum urate levels under 360 mmol/l. The management of a minority of patients, including those with renal impairment, is difficult and often unsatisfactory because of restricted treatment options. In this paper; the current options for treating hyperuricemia are first discussed then followed by new approches.     

The epidemiology of abnormal hemoglobins in Mediterranean high-level athletes

The aim of this study was to determine the prevalence and nature of hemoglobin (Hb) defects in a Mediterranean high-level (HL) athlete population. Five hundred and ninety-four HL male and female athletes were recruited during the annual follow-up of the members of Tunisian national teams. Hematological data, Hb electrophoresis, and DNA analysis were assessed using conventional techniques. Sporting discipline, type of sport, and performance levels were assessed using a questionnaire. The results showed that 32 HL athletes had abnormal Hb (5.4%): β-thalassemia (2.2%), α-thalassemia (0.5%), HbAS (1.5%), HbAC (0.5%), and rare Hb variants (0.7%). Of the 32 defect carriers, all but one (a α-thalassemia) were heterozygous. All the detected hemoglobinopathies but one (an Hb Hope) had already been reported in the country. The prevalence of Hb defect in the HL athletes was similar to that described in the general Tunisian population (P > 0.05). The percentage of Hb defect in the athletes was not dependent on gender, or performance level (P > 0.05). Within each type of sport the percentages of athletes with normal and abnormal Hb were similar (P > 0.05). The hematological data revealed the diversity of anemia, microcytosis, and hypochromia in thalassemic HL athletes. We concluded that HL athletes in Tunisia were a representative sample of the general Tunisian population regarding the prevalence and nature of benign abnormal Hb. The hematological data of the thalassemia carriers exhibited high variability and raised the question of genetic and sporting counseling, as well as biological follow-up for these carriers.     

Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda

Mal de Meleda is a recessive, transgressive palmoplantar keratoderma for which we previously identified mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1). In this report we describe two new mutations: (i) a founder mutation, which changes a conserved cysteine residue to tyrosine (C99Y) in a large inbred Tunisian pedigree, and (ii) a signal sequence mutation (W15R), which was homozygous in a German family and heterozygous in a Scottish patient. Four ancestral haplotypes were observed in 69 patients from countries around the Mediterranean basin, and an additional haplotype was found in the German and Scottish patients.