Factors Affecting Energy Metabolism and Prognosis in Patients with Amyotrophic Lateral Sclerosis.

Background/aims:Nutritional status is a factor affecting prognosis in patients with amyotrophic lateral sclerosis (ALS). Here, we aimed to clarify the factors associated with hypermetabolism and the prognosticators of ALS.Methods:Forty-two inpatients (22 men, 20 women) diagnosed with ALS according to the revised El-Escorial criteria were investigated. The following data were retrospectively analyzed: anthropometric measurements, blood biochemistry, disease severity, basal energy expenditure (BEE), resting energy expenditure (REE) measured by indirect calorimetry, spirometry, and bioelectrical impedance analysis. Single and multiple regression analysis was performed to examine factors affecting REE and metabolic changes (defined as the ratio of REE to fat-free mass [FFM]). The Kaplan-Meier method was used to examine factors associated with the occurrence of cumulative events (death or tracheostomy).Results:Among the 42 inpatients, REE was significantly higher than BEE, indicating hypermetabolism in ALS. Multiple regression analysis revealed that REE/FFM is strongly associated with the skeletal muscle index (-3.746 to -1.532, p < 0.0001) and percent forced vital capacity (%FVC) (-0.172 to -0.021, p = 0.013). Moreover, both the skeletal muscle index and %FVC were significant prognosticators associated with the occurrence of cumulative events.Conclusions:Energy metabolism was elevated in ALS, and respiratory status and muscle mass were associated with the hypermetabolism and poor prognosis. Adequate nutritional support may improve outcomes in ALS by preventing deterioration of respiratory status and reduction in muscle mass

Understanding of the metabolic abnormalities induced by COMT inhibitor administration

科学研究費補助金研究成果報告書研究種目: 基盤研究(C)研究期間: 2012～2014課題番号: 24590189研究代表者: 金 一暁（滋賀医科大学・医学部・助教

水痘・帯状疱疹ウイルス感染によるブドウ膜炎を契機に神経ベーチェット病を発症したと考えられた1例

症例は69 歳男性．持続する発熱，関節痛，視力障害を主訴に受診した．再発性口腔内アフタに加え，前房水水痘・帯状疱疹ウイルス（varicella-zoster virus，以下VZV と略記）PCR 陽性の両側ブドウ膜炎を認めた．神経症候は明らかでなかったが，髄液単核球増多，脳MRI で皮質下白質，基底核，小脳に造影病変を認め，ステロイド治療が著効した．本例はVZV 感染症との鑑別が問題となったが，髄液VZV-PCR 陰性，HLAB51 陽性であり，ステロイドの効果と併せ急性型神経ベーチェット病（neuro-Behcet’s disease，以下NBD と略記）と診断した．NBD の発症機序は未だ不明であるが，VZV 感染が本疾患発症の契機となった可能性を示唆する貴重な例と考え報告する．A 69-year-old man was admitted for persistent fever, arthralgia, and visual impairment. Physical examination demonstrated bilateral uveitis and recurrent aphthous stomatitis. The PCR analysis of the aqueous humor of the anterior chamber was positive for the Varicella-zoster virus (VZV). Although no neurological defect was evident, the cerebrospinal fluid contained elevated monocytes but was negative for VZV-PCR. Brain MRI revealed Gd-enhanced lesions in the subcortical white matter, basal ganglia, and cerebellum. With his positive HLAB51, he was diagnosed with neuro-Behcet\u27s disease (NBD) and was successfully treated with high-dose prednisolone. Although the pathogenesis of Behcet\u27s disease is still unknown, the involvement of viral infection is reported. The present case implies that NBD could be triggered by herpes zoster virus associate-uveitis; the accumulation of such cases would help clarify the pathogenesis of Behcet\u27s disease

Spinal Muscular Atrophy Type 3 Showing a Specific Pattern of Selective Vulnerability on Muscle Ultrasound.

A 23-year-old woman was admitted for slowly progressive proximal limb muscle weakness from childhood with elevated muscle enzyme levels. Although muscular diseases were suspected, an electromyogram showed remarkable neurogenic changes, and a muscle echogram indicated selective muscle involvement, including dissociation between the soleus and gastrocnemius, which was consistent with previous reports using magnetic resonance imaging (MRI). She was diagnosed with SMA type 3 following genetic testing, and nusinersen was soon initiated. An early diagnosis is mandatory to maximize the benefit of treatment. A muscle echogram may facilitate an early diagnosis in a non-invasive and time-saving manner compared to MRI