A previous genome-wide association study (GWAS) performed in 963 Japanese individuals (487 primary biliary cholangitis [PBC] cases and 476 healthy controls) identified TNFSF15 (rs4979462) and POU2AF1 (rs4938534) as strong susceptibility loci for PBC. In this study, we performed GWAS in additional 1,923 Japanese individuals (894 PBC cases and 1,029 healthy controls), and combined the results with the previous data. This GWAS, together with a subsequent replication study in an independent set of 7,024 Japanese individuals (512 PBC cases and 6,512 healthy controls), identified PRKCB (rs7404928) as a novel susceptibility locus for PBC (odds ratio [OR] = 1.26, P = 4.13 × 10-9). Furthermore, a primary functional variant of PRKCB (rs35015313) was identified by genotype imputation using a phased panel of 1,070 Japanese individuals from a prospective, general population cohort study and subsequent in vitro functional analyses. These results may lead to improved understanding of the disease pathways involved in PBC, forming a basis for prevention of PBC and development of novel therapeutics.

VICON is a useful system to measure neck ROMs and evaluate the efficacy of interventions, such as surgery or physiotherapeutic exercise.

BackgroundCongenital limb deficiency is a rare and intractable disease, which impairs both function and appearance of the limbs. To establish adequate medical care, it is necessary to reveal the actual conditions and problems associated with this disease. However, there have been no extensive epidemiological surveys in Japan addressing this disease. This is the first nationwide epidemiological survey of congenital limb deficiency in this country.MethodsWith the cooperation of epidemiology experts, we performed a two-stage nationwide survey to estimate the number of patients with congenital limb deficiency and reveal basic patient features. We targeted orthopaedic surgery, paediatric, and plastic surgery departments. Hospitals were categorized according to the institution type and the number of hospital beds; hospitals were randomly selected from these categories. We selected 2283 departments from a total 7825 departments throughout Japan. In this study, we defined congenital limb deficiency as partial or total absence of the limbs, proximal to the proximal interphalangeal joint of the fingers/lesser toes or interphalangeal joint of the thumb/great toe. We distributed the first survey querying the number of initial patient visits from January 2014 to December 2015. Targets of the second survey were departments that reported one or more initial patient visits in the first survey.ResultsIn the first survey, 1767 departments responded (response rate: 77.4%). Among them, 161 departments reported one or more initial patient visits. We conducted the second survey among these 161 departments, of which 96 departments responded (response rate: 59.6%). The estimated number of initial visits by patients with congenital limb deficiency was 417 (95% confidence interval: 339–495) per year in 2014 and 2015. The estimated prevalence of congenital limb deficiency in Japan was 4.15 (95% confidence interval: 3.37–4.93) per 10,000 live births. The sex ratio was 1.40. Upper limbs were more affected than lower limbs.ConclusionsWe revealed the estimated number of initial patient visits per year and birth prevalence of congenital limb deficiency in Japan. Our results will contribute to establishing the disease concept and grades of severity of congenital limb deficiency.Electronic supplementary materialThe online version of this article (10.1186/s12891-018-2195-3) contains supplementary material, which is available to authorized users.

Long-term add-on ADV treatment was highly effective in LAM-resistant chronic hepatitis B patients in terms of virological and biochemical responses. Lower HBV replication and lower albumin level at baseline led to better outcomes.

Background: In order to effectively improve motor function, a sound understanding of one's bodyfor example, relative spatial position, relationships, names and functions of body partsis essential. The aim of this study was to explore how children with congenital lower limb deficiency (LLD) perceive their bodies, particularly their legs. Methods: Six children with congenital LLD and 14 controls, aged 5-12 years, were recruited for this study. They drew self-portraits and answered questions about names of body parts. These body part-related questions consisted of a production test, in which an examiner pointed to body parts on each child and asked the child to name them, and a comprehension test, in which the examiner mentioned body parts and asked the child to point to them on their own body. Results: No differences were found between the self-portraits of children with LLD and those of the control children. In the verbal tests, children with LLD responded correctly at lower rates to questions on body trunk, upper limbs, arms, hands and feet than the control children. Conclusion: Children with LLD have diminished lexical-semantic body knowledge of the upper limbs and feet compared with children without LLD.