In 1997, an Internet-based static image telepathology system was built at Sapporo National Hospital, Japan. We can exchange high-resolution microscopical images through a file transfer protocol server and discuss cytological findings and diagnosis on an electronic mailing list. We applied the system to primary telecytodiagnosis. From May 1997 to April 1999 we have made diagnoses of 614 daily cases only by looking at the video monitor images transmitted from the cytotechnologist of Wakkanai Municipal Hospital 300 km distant from Sapporo. The concordance between telecytodiagnosis and glass slide diagnosis was 88.6%. Kappa statistics for cervical smears was 0.919 and that for specimens other than uterine cervix was 0.810. The accuracy of telecytodiagnosis was 91.4%, and was not substantially different from that of the conventional mail-based cytology in a previous year. We had five cases with a severely inappropriate diagnosis in telecytology, all of which however were quickly corrected by follow-up histological or cytological specimens. With the use of an electronic mailing list the participants had quick and sufficient discussions. We conclude that telecytology is very useful for primary cytodiagnosis in regional medicine and that it may raise the accuracy of cytodiagnosis in future, if we make consistent efforts to reflect the benefits of telecytology in daily practices. This is the first report of clinical results of telecytology from Japan.

No abstract

Acroscyphodysplasia (OMIM250215) is a distinctive form of metaphyseal dysplasia characterized by the distal femoral and proximal tibial epiphyses embedded in cup-shaped, large metaphyses known as metaphyseal scypho ("scypho" = cup) deformity. It is also associated with severe growth retardation and brachydactyly. The underlying molecular mechanism of acroscyphodysplasia has not yet been elucidated, although scypho-deformity of the knee has been reported in three patients with acrodysostosis due to a mutation in the PDE4D gene. We report on the clinical, radiological, and molecular findings of five female patients with acroscyphodysplasia; two were diagnosed as pseudohypoparathyroidism (PHP) or Albright hereditary osteodystropy, and the other three as acrodysostosis. They all had radiological findings consistent with severe metaphyseal scypho-deformity and brachydactyly. Heterozygous mutations were identified in the PHP patients consisting of one novel (p.Q19X) and one recurrent (p.R231C) mutation of the GNAS gene, as well as, in the acrodysostosis patients consisting of two novel mutations (p.T224I and p.I333T) of the PDE4D gene. We conclude that metaphyseal acroscyphodysplasia is a phenotypic variation of PHP or acrodysostosis caused by either a GNAS or PDE4D mutation, respectively.

The purpose of this study was to investigate the incidence of dialysis-related amyloidosis (DRA) such as destructive spondyloarthropathy (DSA), dialysis amyloid arthropathy (DAA), and carpal tunnel syndrome (CTS). DAA was rated on X-ray images based on the disease stage. Of the 199 patients on regular dialysis therapy, 41 (20.6%) showed DRA. Based on the X-ray images, 21 patients (10.6%) showed DSA, while 22 patients (11.1%) showed DAA. Sixteen patients (8.0%) had CTS, determined through a history of surgery. Regarding overlap of conditions, 14 had both DSA and DAA, 3 had both DSA and CTS, and 2 had both DAA and CTS. A long duration of dialysis was a risk factor for DRA.

BackgroundLumbar spondylosis is more prevalent among the middle-aged and elderly, but few population-based studies have been conducted, especially in Japan. The purpose of this study was to explore the prevalence of lumbar spondylosis and its associations with low back pain among community-dwelling Japanese women.MethodsLateral radiographs of the lumbar spine were obtained from 490 Japanese women ≥ 40 years old, and scored for lumbar spondylosis using the Kellgren-Lawrence (KL) grade at lumbar intervertebral level from L1/2 to L5/S1. Height and weight were measured, and body mass index (BMI) was calculated. Low back pain in subjects was assessed using a self-administered questionnaire. Stiffness index (bone mass) was measured at the calcaneal bone using quantitative ultrasound.ResultsPrevalence of radiographic lumbar spondylosis for KL ≥ 2, KL ≥ 3 and low back pain were 76.7%, 38.8% and 20.0%, respectively. Age was positively associated with radiographic lumbar spondylosis (KL = 2, KL ≥ 3) and low back pain. Greater BMI was associated with lumbar spondylosis with KL = 2, but not with KL ≥ 3. Stiffness index was associated with neither radiographic lumbar spondylosis nor low back pain. Multiple logistic regression analysis identified radiographic lumbar spondylosis (KL ≥ 3) at L3/4, L4/5 and L5/S1 was associated with low back pain, independent of age, BMI and stiffness index.ConclusionSevere lumbar spondylosis at the middle or lower level may contribute to low back pain.