Rinshō shinkeigaku = Clinical neurology
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A 16-year-old woman was admitted to our hospital because of the motorbike accident On admission, her consciousness was alert, and she had lower lip laceration and left femur open wound. Brain CT showed no abnormality, but chest CT revealed slight left lungs sprain and her left femur was fractured in the radiograph. Debridement and the art of the steel wire pulling of the left femur fracture part were enforced under general anesthesia about two hours coming to a hospital later. ⋯ We diagnosed her as having cerebral fat embolism based on clinical course and MRI findings. DWI abnormal signals disappeared in three weeks and the symptoms had improved gradually. It is thought that head MRI-DWI is useful to diagnose and evaluate the pathophysiology of cerebral fat embolism.
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The present study was conducted with 20 ALS patients and their caregivers with the aim of examining whether caregiver burden and the caregiver's quality of life were correlated to the patient's degree of functional impairment. Patients were divided into a relatively mild functional impairment group (score of 14-18 on the ALS Functional Rating Scale (ALSFRS)) and a severe ALS group (score of 0-3 on ALSFRS). ⋯ Furthermore, caregivers in the high-score ALSFRS group had significantly more mental health problems. These findings suggest the need for mental health care and reduction of caregiver burden due to progression of functional impairment for caregivers of ALS patients still at a relatively early stage of the disease.
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Prion disease develops when normal prion proteins change into transmissible abnormal prion proteins and the converted proteins accumulate in the brain. The Japanese Creutzfeldt-Jakob Disease (CJD) Surveillance Committee has identified 1320 patients with prion diseases in the 10 years since 1999 (classified into 3 types: sporadic, 77.2%; hereditary, 16.7%; and environmentally acquired, 6.1%). Compared with patients in other countries, a relatively larger number of Japanese patients characteristically have dura mater graft-associated CJD and hereditary prion diseases. ⋯ Many mutations of the prion protein gene have been identified, but V180I (fCJD), P102L (GSS), and E200K (fCJD) mutations were the most common among the fCJD cases in Japan. Without a family history, genetic testing is necessary to distinguish even seemingly "sporadic" CJD from fCJD. Accurate diagnosis is important for clarification of the pathological process, prevention of secondary infection, and also psychological support.
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RNA interference (RNAi) is the process of sequence-specific, post-tanscriptional gene silencing, initiated by double-stranded RNA (dsRNA). The gene therapy for familial ALS with siRNA had been started and showed promising results in the model mouse. There is a recent progress in the delivery of siRNA to the central nervous system. There are still important problems for application of gene therapy including off-target effect and gene delivery of siRNA, but a rapid progress can be expected because of the extremely high efficiency of siRNA.