Articles: patients.
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Patients with rare diseases often undergo a diagnostic odyssey that can last many years until the diagnosis is definitively established. To improve the diagnosis and treatment of these patients, the German National Task Force for Patients With Rare Diseases (Nationales Aktionsbündnis für Menschen mit Seltenen Erkrankungen, NAMSE) has recommended the creation of Rare Disease Centers (RDCs). ⋯ A diagnostic evaluation with the aid of interdisciplinary case conferences and the opportunity for exome analysis can be of benefit to people with rare diseases who have not received a definitive diagnosis in a standard care setting. Further improvement of the diagnosis rate can come from whole-genome analysis and from the introduction of an international registry.
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Observational Study
Surgeon-Led Initiatives to Increase Access to Surgical Treatment of Epilepsy at an Academic Level 4 Epilepsy Center: An Observational Cohort Study.
Underutilization of surgical treatment for epilepsy is multifactorial, and the multidisciplinary nature of caring for these patients represents a significant hurdle in expanding surgical treatment of epilepsy. ⋯ We outline strategies that level 4 epilepsy centers may use to strengthen collaborations and improve patient access for surgical epilepsy treatment. Increased collaboration can both improve the number of patients with epilepsy with access to specialized surgical care and produce reimbursement benefits for the centers caring for these patients, regardless of insurance source.
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Asleep vs awake surgery for right insula-centered low-grade glioma (LGG) is still debated. ⋯ This is the first study comparing asleep vs awake surgery for right insula-centered LGG. Despite similar extent of resection, functional outcomes were significantly better in awake patients by avoiding permanent neurological impairment and by increasing RTW. These results support the mapping of higher-order functions during awake procedure.
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Bone density has been associated with a successful fusion rate in spine surgery. Hounsfield units (HUs) have more recently been evaluated as an indirect representation of bone density. Low preoperative HUs may be an early indicator of global disease and chronic process and, therefore, indicative of the need for future reoperation. ⋯ Patients who underwent lumbar interbody fusion that did not require reoperation for adjacent-level degeneration were found to have a higher mean preoperative HU than patients who did require surgical intervention. Lower preoperative CT HU was a significant independent predictor for the requirement of adjacent-level surgery after spinal arthrodesis.