Characteristics of a Family with the MEN-2A Syndrome

Results of screening and follow-up in a family with the MEN-2A syndrome are described. Fourteen (83%) subjects at risk were affected with medullary thyroid carcinoma (MTC). Asymptomatic pheochromocytoma and parathyroid hyperplasia were found in two instances each. Intrathyroidal MTC without metastases was found in the four youngest subjects and was associated with normal basal but abnormal pentagastrin-stimulated calcitonin (CT) levels. In the ten subjects with abnormal basal CT levels, metastatic spread to at least regional lymph nodes was found. In eight of these ten subjects, total thyroidectomy with excision of affected lymph nodes and additional radioiodine did not return CT levels to normal postoperatively. In the other two subjects, the CT levels returned to normal after thyroidectomy and an ablative dose of radioiodine, and remained normal during follow-up. This study confirms the view that family screening at a young age promotes the detection of MTC at a curable stage. Radioiodine as an adjunct to surgery may be of value in the prevention of tumor recurrence in patients with normal postoperative CT levels but residual thyroid tissue

Quantitative ultrasound does not identify patients with an inflammatory disease at risk of vertebral deformities

<p>Abstract</p> <p>Background</p> <p>Previous studies from our group have shown that a high prevalence of vertebral deformities suggestive of fracture can be found in patients with an inflammatory disease, despite a near normal bone mineral density (BMD). As quantitative ultrasound (QUS) of the heel can be used for refined assessment of bone strength, we evaluated whether QUS can be used to identify subjects with an inflammatory disease with an increased chance of having a vertebral fracture.</p> <p>Methods</p> <p>246 patients (mean age: 44 ± 12.4 years) with an inflammatory disease (sarcoidosis or inflammatory bowel disease (IBD)) were studied. QUS of the heel and BMD of the hip (by dual X-ray absorptiometry (DXA)) were measured. Furthermore lateral single energy densitometry of the spine for assessment of vertebral deformities was done. Logistic regression analysis was performed to assess the strength of association between the prevalence of a vertebral deformity and BMD and QUS parameters, adjusted for gender and age.</p> <p>Results</p> <p>Vertebral deformities (ratio of <0.80) were found in 72 vertebrae of 54 subjects (22%). In contrast to the QUS parameters BUA (broadband ultrasound attenuation) and SOS (speed of sound), T-score of QUS and T-scores of the femoral neck and trochanter (DXA) were lower in the group of patients with vertebral deformities. Logistic regression analysis showed that the vertebral deformity risk increases by about 60 to 90% per 1 SD reduction of BMD (T-score) determined with DXA but not with QUS.</p> <p>Conclusion</p> <p>Our findings imply that QUS measurements of the calcaneus in patients with an inflammatory condition, such as sarcoidosis and IBD, are likely of limited value to identify patients with a vertebral fracture.</p

Evaluation of patients with a recent clinical fracture and osteoporosis, a multidisciplinary approach

The aetiology of osteoporotic fractures is multifactorial, but little is known about the way to evaluate patients with a recent clinical fracture for the presence of secondary osteoporosis

Due modi di trattare le opinioni notevoli. La nozione di felicità in Aristotele

Background: To identify frail elderly individuals, several index or scoring systems have been developed for research purposes. The practical value of these scores for screening and diagnostic use is uncertain. Aim: The available scoring systems were reviewed to determine whether they can be used in daily practice. Methods: Literature study on relevant test instruments developed for the detection of frailty on the basis of theoretical views on the frailty concept. Data on sensitivity and specificity and predictive values were extracted. Results: Several (n = 6) frailty scores were described with respect to their value as a screening or diagnostic test. Outcome of the selected test instruments is presented as a risk of negative health outcome when a test is positive. The reported AUCs of ROCs varied from 0.55 for functional decline in people admitted to an accident and emergency department to 0.87 for prediction of mortality on the basis of a co-morbidity score. As the prevalence of frailty and resulting negative health outcomes in published reports was low (5-41%), presented sensitivity and specificity values lead to low positive predictive values (6-49%) but reasonable negative predictive values (73-96%). Conclusions: As the number of false positive values of most available tests is substantial, these frailty scores are of limited value for both screening and diagnostic purposes in daily practice. As diagnostic instruments they can best be used to exclude frailty. The false-positive rate of currently available tests is too high to allow major decisions on medical care to be made on the basis of a positive test

Bone turnover and hip bone mineral density in patients with sarcoidosis

Background and aim of the work: Sarcoidosis is a chronic inflammatory T-cell-driven disease can also affect bone. We evaluated bone remodelling and bone mineral density (BMD) in patients with coidosis and their dependency of disease-related and treatment-related factors. Methods: In 124 BMD of the hip (DXA) and markers of bone resorption (ICTP) and formation (PINP) were evaluated. thermore a lateral DXA of the spine for morphometric assessment of vertebral deformities was performed 87 patients. Potential predictors of bone markers, BMD and determinants of prevalent vertebral were assessed using multiple and logistic regression analysis. Results: The population studied comprised treated patients (n = 51), patients that previously used glucocorticoids (n = 31) and patients currently glucocorticoids (n = 42). In all these groups the age- and gender corrected Z-scores of the hip were except in untreated patients, which revealed an increased Z-score at the trochanter (p = 0.004). In all but patients currently on glucocorticoids the Z-scores for PINP and ICTP were increased (p <0.05). In currently on glucocorticoids the Z-ICTP was also increased (p <0.05), but the Z-PINP decreased (p <compared to untreated patients). In 20.6% of patients one or more morphometric vertebral deformities found. Conclusions: Hip BMD is normal in patients with sarcoidosis, despite an increased bone turnover. may imply that in sarcoidosis mechanisms are involved that compensate for the well-known effects of tokines in inflammatory diseases on osteoclastogenesis and bone resorption. Nonetheless, vertebral ties suggestive of fracture were found in a significant number of patients which indicates that patients sarcoidosis still have a relevant fracture risk