An immigrant family with Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex.

OBJECTIVES: Amyotrophic lateral sclerosis/parkinsonism-dementia complex (ALS/PDC) is a unique endemic on Guam island of the USA, the Kii Peninsula of Japan, and Papua state of Indonesia. The pathomechanism of ALS/PDC remains to be solved, although interaction between some environmental factors and genetic background is plausible. This is the first autopsy-proven immigrant family of ALS/PDC of the Kii Peninsula. METHODS: A daughter and her father immigrated to the high incident area from outside the Kii Peninsula. The father developed ALS 18 years later after immigration, and his daughter also developed ALS 65 years after immigration. They showed pure ALS phenotype without parkinsonism and dementia. RESULTS: The daughter was diagnosed neuropathologically with Kii ALS/PDC with multiple proteinopathies: tauopathy, α-synucleinopathy, and TDP-43 proteinopathy. Gene analysis of familial ALS-related genes, including C9orf72, showed no mutation. DISCUSSION: The findings in an immigrant family established that certain environmental factors play a critical role in the pathogenesis of Kii ALS/PDC.

Important Clinical Features of Japanese Spotted Fever.

Japanese spotted fever (JSF) is a zoonosis transmitted by ticks carrying the pathogen Rickettsia japonica. The classic triad of JSF symptoms is high fever, erythema, and tick bite eschar. About 200 people in Japan develop the disease every year. Japanese spotted fever is also a potentially fatal disease. At Minami-Ise Municipal Hospital in Japan, 55 patients were diagnosed with JSF from 2007 to 2015, which was equivalent to 4.3% of the total JSF cases in Japan. In this retrospective study, we examined the medical records of these 55 JSF cases. Fever, erythema, eschar, and elevated C-reactive protein (CRP) are characteristic clinical features of the disease. We confirmed four of these in the reviewed cases; however, eschar was not present in occasional cases. We confirmed that eosinopenia appeared in nearly all cases. Using fever, erythema, elevated CRP, and eosinopenia in diagnostic screening, our positivity rate was 90.9%. In our clinical practice, including eosinopenia improves the initial diagnosis of JSF.

[A case of stage IV rectal cancer with whom EPA oral nutritional supplements could resolve cachectic condition and promote patient compliance with cancer chemotherapy].

We report a case of a Stage IV rectal cancer patient for whom EPA oral nutritional supplements promoted treatment compliance with cancer chemotherapy by resolving a refractory cachectic condition. A 76-year-old male who developed a local re-growth of residual disease and multiple lung metastases after abdomino-perineal resection for lower rectal cancer was referred to our clinic for chemotherapy. On admission, he suffered from a loss of appetite as well as a 30% loss of usual body weight, caused by a cachectic condition with systemic inflammatory response. On starting chemotherapy, his daily diet was supplemented with EPA containing oral nutritional supplements (EPA ONS). Within 2 weeks after initiating EPA ONS treatment, the systemic inflammatory response resolved, and at the same time, body weight and the serum level of albumin increased, which allowed treatment compliance with aggressive multidrug chemotherapy. The patient gained 10 kg in body weight even after 12 months of aggressive chemotherapy, and has attained a longstanding partial remission from the disease. Although cancer cachexia is generally regarded as an end-stage irreversible pathological condition, EPA ONS may promote patient compliance with cancer chemotherapy by resolving cachectic condition, and thus may improve survival.

Churg-Strauss syndrome complicated by colon erosion, acalculous cholecystitis and liver abscesses.

We report on a case of Churg-Strauss syndrome (CSS) with colon erosion, cholecystitis and liver abscesses. A 21-year-old woman with a history of bronchial asthma for 3 years was admitted with a complaint of abdominal pain. Laboratory findings included remarkable leukocytosis and eosinophilia, and a colonoscopy revealed erosion from the rectum to the ileocecal region. In addition, a colonic biopsy specimen showed necrotizing vasculitis and marked eosinophilic infiltration. On the basis of the clinical features and histopathological findings, she was diagnosed with CSS and subsequently treated with oral prednisolone, after which the eosinophilia and abdominal pain disappeared. However, on the 15th d in hospital she developed cholecystitis and liver abscesses. She was therefore treated with antibiotics and as a result went into clinical remission.