A Case of Adult Hypophosphatasia with Non-specific Symptoms / 日本プライマリ・ケア連合学会誌

A 40-year-old female visited our hospital because of malaise. She had no history of early loss of primary teeth nor family history of skeletal dysplasia. Laboratory examination showed low serum alkaline phosphatase levels of 18 U/L. In addition, hypozincemia was also observed, but alkaline phosphatase level did not increase after zinc replacement. Mediators, including calcium and phosphorus metabolism, were within normal range. X-ray examination showed no evidence of osteomalacia, but mineral bone density was slightly decreased compared with the young adult mean. Urine phosphoethanolamine level was increased, and we then suspected hypophosphatasia. Genetic tests detected ALPL gene heterozygous missense mutation (c.529G>A p.Ala177Thr and c.670A>G p.Lys224Glu) and adult-onset hypophosphatasia was finally diagnosed. It is important to evaluate alkaline phosphatase levels in the screening of patients with non-specific symptoms.

Factors affecting the Prescription Time of Lower Extremity Orthoses for Hemiplegic Patients after Stroke / The Japanese Journal of Rehabilitation Medicine

We investigated annual changes with respect to the period taken from the onset of illness to the prescription of lower extremity orthoses in hemiplegic patients after stroke, retrospectively from 1992 to 2007, in an acute phase hospital. We subdivided the initial period into three parts : the period of time from onset to the beginning of rehabilitation (T1), from the beginning of rehabilitation to the beginning of rehabilitation in the training room (T2), and from the beginning of rehabilitation in the training room to prescription (T3). Analysis was made with respect to the relationship between each of the aforementioned periods and the prescription time. Furthermore, we also analyzed the relationship between the length of stay of patients who had been prescribed orthoses, and the prescription time. The prescription time was found to have gradually shortened over time ; moreover, the period in question shortened in a rapid way in 2001, as compared with previous years (<i>p</i> <0.05). T3 showed the highest correlation coefficient (<i>r</i> =0.99), and the length of stay also exhibited a high correlation coefficient (<i>r</i> =0.97). We assume that the annual changes in prescription time might have been due to various underlying factors, namely, social factors, such as a shortening of the length of stay, caused by the differentiation of roles among hospitals, as well as medical factors such as the development of acute phase rehabilitation, or changes in perception of the ways in which orthoses may be used for stroke patients by rehabilitation staff.