Interictal fatigue and its predictors in epilepsy patients: A case-control study

AbstractPurposeFatigue impairs the quality of life (QOL) of epilepsy patients, but few studies have investigated this issue and no systematic analysis of the predictors of fatigue in epilepsy patients has been performed. Thus, we investigated the degree and predictors of fatigue in epilepsy patients.MethodsWe enrolled 270 consecutive adult patients with epilepsy and categorized them into three subgroups: uncontrolled epilepsy (UCE), well-controlled epilepsy (WCE), and poorly controlled epilepsy (PCE). All subjects were asked to complete the Korean versions of the Fatigue Severity Scale (K-FSS), the Neurological Disorders Depression Inventory for Epilepsy (K-NDDI-E), the Generalized Anxiety Disorder-7 (K-GAD-7) scale, and the short forms of the Patient-Reported Outcomes Measurement Information System Sleep-Related Impairment (PROMIS-SRI) and Sleep Disturbance (PROMIS-SD) scales. Additionally, 200 normal control subjects who completed the K-FSS, K-NDDI-E, and K-GAD-7 measures were included. The K-FSS scores of the epilepsy subgroups and the control group were compared, and stepwise multiple regression analysis was performed to identify predictors of high scores on the K-FSS among epilepsy patients.ResultsThe K-FSS, K-NDDI-E, and K-GAD-7 scores were higher in the epilepsy patients than in the controls. The K-FSS scores of the UCE subgroup, but not of the PCE and WCE subgroups, were higher than those of the control group. K-FSS scores of epilepsy patients were predicted by PROMIS-SRI and K-NDDI-E scores.ConclusionsFatigue was more severe in epilepsy patients than in healthy controls without epilepsy, especially when seizures were not controlled. Sleep-related impairments and depression aggravated fatigue in epilepsy patients

Sheldon-Hall syndrome

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. Epidemiological data for the prevalence of SHS are not available, but less than 100 cases have been reported in the literature. Other common clinical features of SHS include prominent nasolabial folds, high arched palate, attached earlobes, mild cervical webbing, short stature, severe camptodactyly, ulnar deviation, and vertical talus and/or talipes equinovarus. Typically, the contractures are most severe at birth and non-progressive. SHS is inherited in an autosomal dominant pattern but about half the cases are sporadic. Mutations in either MYH3, TNNI2, or TNNT3 have been found in about 50% of cases. These genes encode proteins of the contractile apparatus of fast twitch skeletal muscle fibers. The diagnosis of SHS is based on clinical criteria. Mutation analysis is useful to distinguish SHS from arthrogryposis syndromes with similar features (e.g. distal arthrogryposis 1 and Freeman-Sheldon syndrome). Prenatal diagnosis by ultrasonography is feasible at 18–24 weeks of gestation. If the family history is positive and the mutation is known in the family, prenatal molecular genetic diagnosis is possible. There is no specific therapy for SHS. However, patients benefit from early intervention with occupational and physical therapy, serial casting, and/or surgery. Life expectancy and cognitive abilities are normal

Subacute Neurological Deterioration with Selective Axonal Injury in Patients with Acute Ischemic Stroke following Reperfusion of Middle Cerebral Artery Occlusion

To date, the long-term effects of reperfusion on the salvaged brain tissues have not been addressed in the literature. We report 4 cases presenting subacute neurological deteriorations with selective axonal injury following reperfusion therapies for acute ischemic stroke. Our case series based on 4 patients showed common features distinct from those of early reperfusion injury in that (1) the neurological symptoms developed after 1-2 months of reperfusion therapies, (2) these symptoms were accompanied by the subcortical white matter changes on brain MRI, and (3) these findings were mostly reversible with time. This suggests that axons in the reperfused brain may be vulnerable to further neurological injury

外耳道モデル内での超音波の音圧分布検討

電気通信大学201

Decoding complex patterns of genomic rearrangement in hepatocellular carcinoma

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