To assess whether volumetric vertebral bone mineral density (BMD) measured with opportunistic quantitative computed tomography (QCT) (i.e., CT acquired for other reasons) can predict osteoporotic ...fracture occurrence in a prospective clinical cohort and how this performs in comparison to dual-energy X-ray absorptiometry (DXA) measurements.
In the database of our fracture liaison service, 58 patients (73 ± 11 years, 72% women) were identified that had at least one prevalent low-energy fracture and had undergone CT of the spine. BMD was determined by converting HU using scanner-specific conversion equations. Baseline DXA was available for 31 patients. During a 3-year follow-up, new fractures were diagnosed either by (i) recent in-house imaging or (ii) clinical follow-up with validated external reports. Associations were assessed using logistic regression models, and cut-off values were determined with ROC/Youden analyses.
Within 3 years, 20 of 58 patients presented new low-energy fractures (34%). Mean QCT BMD of patients with fractures was significantly lower (56 ± 20 vs. 91 ± 38 mg/cm
; p = 0.003) and age was higher (77 ± 10 vs. 71 ± 11 years; p = 0.037). QCT BMD was significantly associated with the occurrence of new fractures, and the OR for developing a new fracture during follow-up was 1.034 (95% CI, 1.010-1.058, p = 0.005), suggesting 3% higher odds for every unit of BMD decrease (1 mg/cm
). Age and sex showed no association. For the differentiation between patients with and without new fractures, ROC showed an AUC of 0.76 and a Youden's Index of J = 0.48, suggesting an optimal cut-off value of 82 mg/cm
. DXA T-scores showed no significant association with fracture occurrence in analogous regression models.
In this use case, opportunistic BMD measurements attained through QCT predicted fractures during a 3-year follow-up. This suggests that opportunistic measurements are useful to reduce the diagnostic gap and evaluate the fracture risk in osteoporotic patients.
Objective Severe myoclonic epilepsy (SMEI; Dravet's syndrome) is a severe form of epilepsy which begins in infancy. The first seizures in Dravet syndrome are often prolonged febrile seizures, the ...course of Dravet syndrome is variable from one child to another. This may delay diagnosis for many months and often years after the onset of seizures. Most children with Dravet syndrome have a mutation in a gene called SCN1A. Methods We present the clinical, laboratory and neuroimaging data of our three SMEI patients, and the importance of genetic diagnosis to treatment decisions. Results First patient has first afebrile atonic episode when she has two months old, then multiple seizure types appeared, sometimes occurring in a daily cluster in spite of various antiepileptic combinations. Extensive neurometabolic and genetic findings including SCN1A gene revealed no abnormalities but due clinical criteria for Dravet syndrome, stiripentol was started with significant improvement in seizures control and development. Second patient presented his first episode of febrile seizures at eight months of age. In following years status epilepticus occurred monthly. At the age of 4 years, a missense mutation was found of the SCN1A gene and treatment with stiripentol was started, seizures stop, and his development is almost normal, but with behavioral disturbances. Third patient has various types of seizures provoked by a febrile state, noise and emotional stimuli. At the age of 12 months DNA diagnostics identified an SCN1A mutation, and then, after various combinations of medications treatment with stiripentol was started. The number of seizures was reduced and developmental delay is minimal. Conclusion The importance is that children with Dravet syndrome can have a genetic diagnosis before the full syndrome has evolved. This will reduce unnecessary diagnostic procedures, enable initiation of appropriate treatment, and thus achieve a better control of seizures and reduce neurological disability.
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