Search

Abstract: Alexander disease is a major entity of leukodystrophy; magnetic resonance imaging (MRI) studies of the brain typically show extensive changes in the cerebral white matter with frontal predominance. Heterozygous missense mutations of GFAP are thought to be sufficient for the molecular diagnosis, which has widened the Alexander disease entity beyond the classical one. We report the patient, a 16-year-old Japanese boy, with infantile-onset Alexander disease, showing striking MRI findings; extreme white matter loss of cerebrum through cerebellum, severe atrophy of basal ganglia, cerebellum, brain stem, and cervical spinal cord. Molecular analysis showed a heterozygous mutation R239L (c.730G>T) in GFAP. A relative long disease course, over 15years, with the help of mechanical ventilation revealed the striking MRI progression. [Copyright &y& Elsevier]

Rotavirus (RV) vaccine contributed to the reduction of the hospitalization for gastroenteritis (GE)-associated convulsion whereas there were few studies investigating the vaccination rate and the reduction of the disease simultaneously. The aim of this study is to investigate the alterations of the epidemiology and clinical characteristics of RVGE-associated convulsion after the introduction of RV vaccines and evaluate the reduction of the disease in the context of the vaccination rate. This retrospective study included hospitalized patients with GE and GE-associated convulsion from 2009 to 2015. The proportion of patients with RVGE and RVGE-associated convulsion and the clinical characteristics of RVGE-associated convulsion were compared between the pre- (2009–2011) and post-vaccination periods (2013–2015). The presumptive RV vaccination rate in the subject area was also investigated. During the pre- and post-vaccination periods, 47 and 49 patients with GE-associated convulsion, and 319 and 330 with GE were enrolled, respectively. Proportions of both hospitalized patients with RVGE-associated convulsion and those with RVGE during the post-vaccination period were significantly lower than those during the pre-vaccination periods (P = 0.042 and P = 0.003). Serum sodium level was significantly lower in hospitalized patients with RVGE-associated convulsion during the post-vaccination period (P = 0.021). The presumptive RV vaccination rates were 35.9%, 45.8% and 52.6% in 2013, 2014 and 2015, respectively. The proportions of hospitalized patients with RVGE-associated convulsion as well as those with RVGE decreased after the introduction of RV vaccine. RV vaccination would be also effective for the prevention of extra-intestinal complications of the virus. [ABSTRACT FROM AUTHOR]

Two huge earthquakes struck Kumamoto, Japan, in April 2016, forcing residents to evacuate. Few studies have reported early-phase disease and injury trends among evacuees following major inland earthquakes. We evaluated the trends among evacuees who visited a medical clinic in a shelter located at the epicenter of the 2016 Kumamoto earthquakes. The clinic opened on April 15, the day after the foreshock, and closed 3 weeks later. We reviewed medical charts related to 929 outpatient visits and conducted descriptive analyses. The evacuees experienced mild injuries and common diseases. The types of diseases changed weekly. Elderly people needed medical support for longer than other age groups. Future earthquakes may be inevitable, but establishing arrangements for medical needs or making precautions for infectious diseases in shelters could reduce the effects of earthquake-related health problems. [ABSTRACT FROM AUTHOR]