18 research outputs found

    The Japanese Clinical Practice Guideline for acute kidney injury 2016

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    Acute kidney injury (AKI) is a syndrome which has a broad range of etiologic factors depending on different clinical settings. Because AKI has significant impacts on prognosis in any clinical settings, early detection and intervention are necessary to improve the outcomes of AKI patients. This clinical guideline for AKI was developed by a multidisciplinary approach with nephrology, intensive care medicine, blood purification, and pediatrics. Of note, clinical practice for AKI management which was widely performed in Japan was also evaluated with comprehensive literature search

    Radiographic Parameters of Acetabular Dysplasia in a Healthy Japanese Population ―Data from the Katashina Study ―

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    Background & Aims:Normal values for Sharp’s angle (SA) and the center-edge angle (CEA) in Japanese are unestablished. We examined these radiographic parameters to identify their correlation with gender, age and spino-pelvic alignment and particularly the prevalence of acetabular dysplasia in healthy adults (middle-aged or older) in Japan. M ethods:In 639 members of the general population in a mountain village in Japan,the SA and CEA were measured. Correlations with gender, age and the sacro-femoral-pubic angle(SFPA)were investigated. Results:A total of 562 subjects(mean age 65.7 years;range,40-90 years)met the study criteria. The mean SA and CEA on both sides in women were larger and smaller than in men,respectively. An association was found between the SA and age in both genders. Acetabular dysplasia,based on the SA and/or CEA,was more prevalent in women than in men and on the right side than on the left. The SFPA was associated with age and the SA in both genders but almost never with CEA. Conclusions:There were gender-associated and right-left differences in the prevalence of acetabular dysplasia. The degree of pelvic retroversion was associated with age but almost never with the CEA

    Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report

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    Abstract Background Hypophosphatasia is an inherited bone disease characterized by low alkaline phosphatase activity encoded by ALPL. Clinically, hypophosphatasia can be categorized as perinatal, infantile, childhood, and adult forms, as well as odonto-hypophosphatasia, according to the age at first sign or dental manifestations. Adult hypophosphatasia typically presents in middle-aged patients who appear to be in good health in early adulthood and manifests as painful feet caused by recurrent, slow-healing stress fractures of the lower limb. Because the symptoms of adult hypophosphatasia vary and are common, many patients with hypophosphatasia might be not diagnosed accurately and thus may receive inappropriate treatment. Case presentation We report a case of a 35-year-old Japanese woman with low serum alkaline phosphatase detected at a routine medical checkup. She had mild muscle/bone pain but no history of rickets, fractures, or dental problems. Measurement of bone mineral density of the lumbar spine and the femoral neck revealed osteopenia below the expected range for age in a young adult. Abdominal ultrasonography revealed numerous microcalcifications in both kidneys. Analysis of amino acids in urine revealed that phosphoethanolamine was elevated. Low serum alkaline phosphatase activity, elevation of phosphoethanolamine, and low bone mineral density supported the diagnosis of hypophosphatasia. ALPL mutation analysis revealed two mutations: p.Phe327Leu and c.1559delT. These genetic abnormalities were previously reported in perinatal, infantile, and childhood but not adult hypophosphatasia. On the basis of the clinical presentation, laboratory and imaging findings, and genetic analyses, the patient was definitively diagnosed with adult hypophosphatasia. To the best of our knowledge, this is the first case report of adult hypophosphatasia with the compound heterozygous mutations p.Phe327Leu and c.1559delT. Conclusions Although the risk of bone fracture was high in this case, treatment approaches differ between osteoporosis and hypophosphatasia. Because adult hypophosphatasia diagnosis is often difficult because of their varied symptoms, hypophosphatasia should be considered in the differential diagnosis of low serum alkaline phosphatase. Early diagnosis is important so that appropriate treatment can be initiated
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