Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease.

Distinguishing autosomal-dominant polycystic kidney disease (ADPKD) from other inherited renal cystic diseases in patients with adult polycystic kidney disease and no family history is critical for correct treatment and appropriate genetic counseling. However, for patients with no family history, there are no definitive imaging findings that provide an unequivocal ADPKD diagnosis. We analyzed 53 adult polycystic kidney disease patients with no family history. Comprehensive genetic testing was performed using capture-based next-generation sequencing for 69 genes currently known to cause hereditary renal cystic diseases including ADPKD. Through our analysis, 32 patients had PKD1 or PKD2 mutations. Additionally, 3 patients with disease-causing mutations in NPHP4, PKHD1, and OFD1 were diagnosed with an inherited renal cystic disease other than ADPKD. In patients with PKD1 or PKD2 mutations, the prevalence of polycystic liver disease, defined as more than 20 liver cysts, was significantly higher (71.9% vs 33.3%, P = .006), total kidney volume was significantly increased (median, 1580.7 mL vs 791.0 mL, P = .027) and mean arterial pressure was significantly higher (median, 98 mm Hg vs 91 mm Hg, P = .012). The genetic screening approach and clinical features described here are potentially beneficial for optimal management of adult sporadic polycystic kidney disease patients.

Microscopic Investigation into the Electric Field Effect on Proximity-Induced Magnetism in Pt.

Electric field effects on magnetism in metals have attracted widespread attention, but the microscopic mechanism is still controversial. We experimentally show the relevancy between the electric field effect on magnetism and on the electronic structure in Pt in a ferromagnetic state using element-specific measurements: x-ray magnetic circular dichroism (XMCD) and x-ray absorption spectroscopy (XAS). Electric fields are applied to the surface of ultrathin metallic Pt, in which a magnetic moment is induced by the ferromagnetic proximity effect resulting from a Co underlayer. XMCD and XAS measurements performed under the application of electric fields reveal that both the spin and orbital magnetic moments of Pt atoms are electrically modulated, which can be explained not only by the electric-field-induced shift of the Fermi level but also by the change in the orbital hybridizations.

The importance of accounting for testing and positivity in surveillance by time and place: an illustration from HIV surveillance in Japan.

The number of tests performed is an important surveillance indicator. We illustrate this point using HIV surveillance data, focusing on Tokyo and Okinawa, two prefectures with high HIV notification rates in Japan. Restricting to data reported from local public health centres and affiliate centres where testing data are accessible, we assessed HIV surveillance data during 2007-2014, based on the annual HIV notification rate (per 100 000 population), HIV testing rate (per 100 000 population) and proportion testing HIV-positive (positivity). Nationally, testing activity and positivity showed an inverse relationship; in 2008, the testing rate peaked, but positivity was lowest. While notification rates were higher for Tokyo (median = 0.98, range = 0.89-1.33) than Okinawa (median = 0.61, range = 0.42-1.09), Okinawa had slightly higher testing rates (median = 187, range = 158-274) relative to Tokyo (median = 172, range = 163-210). Positivity was substantially lower in Okinawa (median = 0.34%, range = 0.24-0.45%) compared with Tokyo (median = 0.57%, range = 0.46-0.67%). Relative to the national testing rate (median = 85, range = 80-115) and positivity (median = 0.34%, range = 0.28-0.36%), Tokyo had higher positivity, despite more testing. In 2014 in Okinawa, all three indicators increased, providing a strong reason to be concerned as positivity increased despite more testing. Together with other information, accounting for testing and positivity improve interpretation of surveillance data to guide public health assessments.

Association of Dietary Intake with the Transitions of Frailty among JapaneseCommunity-Dwelling Older Adults.

BACKGROUND: Frailty is a dynamic process, with frequent transitions between frailty, prefrailty, and robust statuses over time. The effect of dietary intake on frailty transitions is unknown. OBJECTIVE: To examine the association between dietary intake and frailty transitions. DESIGN: Survey-based retrospective analysis of the National Institute for Longevity Sciences-Longitudinal Study of Aging data. SETTING: Areas neighboring the National Center for Geriatrics and Gerontology in Aichi Prefecture, Japan. PARTICIPANTS: We included 469 prefrail community dwellers aged 60-87 years who participated both in the baseline (2008-2010) and 2-year follow-up (2010-2012) surveys of the National Institute for Longevity Sciences-Longitudinal Study of Aging. MEASUREMENTS: Transitions of frailty were categorized by changes in status from baseline to follow-up: "deterioration (prefrail to frail)," "persistence (persistent prefrail)," and "reversal (prefrail to robust)." Estimated dietary (nutrients and food) intakes assessed by 3-day dietary records in each frailty transition were analyzed with a multivariate-adjusted general linear model after adjusting for sex, age, education, family income, smoking, and chronic disease. RESULTS: At the 2-year follow-up, 28%, 7%, and 65% of participants had robust, frail, and pre-frail status, respectively. Among 13 food groups, only milk and dairy product intake was positively associated with frailty reversal even after adjusting for all frailty criteria at baseline. Despite insignificant differences in the estimated mean intakes, the baseline intake of saturated fatty acids, potassium, and vitamin B1 tended to be the highest in the reversal group. The estimated mean (standard error) for milk and dairy product intake (g/day) was 79.1 (28.6), 129.3 (19.9), and 161.7 (21.7) for the deterioration, persistence, and reversal groups, respectively (P=0.0036, P-trend=0.0019). CONCLUSIONS: Daily consumption of dairy products may contribute to frailty reversal and frailty prevention among older community dwellers who consume small amounts of dairy products. Other food groups showed no association with frailty status transitions.

Dietary patterns of antioxidant vitamin and carotenoid intake associated with bone mineral density: findings from post-menopausal Japanese female subjects.

UNLABELLED: Recent studies show that antioxidants may reduce the risk of osteoporosis. This study showed the associations of bone mineral density with dietary patterns of antioxidant vitamins and carotenoids. The findings suggest the combination of vitamin C and ß-cryptoxanthin intakes might provide benefit to bone health in post-menopausal Japanese female subjects. INTRODUCTION: Recent epidemiological studies show antioxidants may reduce the risk of osteoporosis, but little is known about the dietary patterns of antioxidant vitamin and carotenoid intakes and their relation with bone mineral density (BMD). METHODS: A total of 293 post-menopausal female subjects who had received health examinations in the town of Mikkabi, Shizuoka Prefecture, Japan, participated in the study. Radial BMD was measured using dual-energy X-ray absorptiometry. Dietary intakes of antioxidant vitamins and carotenoids were assessed by using a validated food-frequency questionnaire. Dietary patterns were identified on a selected set of antioxidants through principal component factor analysis. RESULTS: Three dietary patterns were identified. The "retinol" pattern, characterized by notably high intakes of preformed retinol, zeaxanthin, and vitamin E, was positively associated with the risk for low BMD. In contrast, the "ß-cryptoxanthin" pattern, characterized by notably high intakes of ß-cryptoxanthin and vitamin C, was negatively associated with low BMD. The odds ratios for low BMD in the highest tertiles of dietary intakes of preformed retinol, vitamin C, and ß-cryptoxanthin against the lowest tertiles were 3.22 [95% confidence interval (CI), 1.38-7.51], 0.25 (CI, 0.10-0.66), and 0.40 (CI, 0.17-0.92), respectively, after adjustments for confounders. However, negative associations of vitamin C and ß-cryptoxanthin with low BMD were not significant after further adjustment for intake of ß-cryptoxanthin or vitamin C, respectively. Higher intakes of both vitamin C and ß-cryptoxanthin were significantly associated with low BMD (P < 0.05). CONCLUSIONS: The combination of vitamin C and ß-cryptoxanthin may be associated with radial BMD in post-menopausal Japanese female subjects.

Association of interleukin-1 gene polymorphisms with sudden sensorineural hearing loss and Ménière's disease.

Sudden sensorineural hearing loss (SSNHL) and Ménière's disease are the most common inner ear diseases in which the causes are unknown. As recent magnetic resonance imaging has demonstrated disruption of the blood-labyrinth barrier in these inner ear diseases, inflammatory reaction associated with increased permeability of the blood vessels may be involved. The genotypes of interleukin 1A (IL1A) (-889C/T; rs1800587) and interleukin 1B (IL1B) (-511C/T; rs16944) were determined using an allele-specific primer-polymerase chain reaction method in 72 patients with SSNHL, 68 patients with Ménière's disease, and 2202 control subjects living almost in the same area as the patients. A significantly higher prevalence of the IL1A-889T allele was observed in SSNHL and Ménière's disease compared with controls, although no significant difference in distribution of IL1B-511C/T genotypes was observed between the patients and controls. Adjusted odd ratios for SSNHL and Ménière's disease risks in the -889TT genotypes were 25.89 (95% confidence interval (CI) 12.19-54.98) and 18.20 (95% CI 7.80-42.46), respectively, after age and gender were taken as moderator variables. Our results suggested that IL1A is closely associated with susceptibility of SSNHL and Ménière's disease.

Relationship between Serum Fatty Acids and Components of Physical Frailty in Community-Dwelling Japanese Older Adults.

Polyunsaturated fatty acids help maintain insulin sensitivity, mitochondrial function, and anti-inflammation. It is well known that deterioration in these areas can cause frailty. However, little is known about the differences in serum polyunsaturated fatty acid levels among frailty components. We investigated the cross-sectional relationship between frailty and serum fatty acids in 1,033 community-dwelling older adults aged 60-88 years. Polyunsaturated fatty acid concentrations were measured from fasting blood samples. The modified phenotype criteria defined frailty. Polyunsaturated fatty acid levels were compared among each component using general linear modeling after controlling for sex, age, body mass index, smoking status, household income, and medical history. Lower polyunsaturated fatty acid levels were associated with the modified frailty criteria, including shrinking and weakness (p < 0.05). Our findings suggest that serum polyunsaturated fatty acid levels differ depending on the frailty status of older adults.

Association of Muscle Strength and Gait Speed with Cross-Sectional Muscle Area Determined by Mid-Thigh Computed Tomography - A Comparison with Skeletal Muscle Mass Measured by Dual-Energy X-Ray Absorptiometry.

BACKGROUND: Muscle mass is often mentioned not to reflect muscle strength. For muscle mass assessment skeletal muscle index (SMI) is often used. We have reported that dual-energy X-ray absorptiometry (DXA)-derived SMI does not change with age in women, whereas the cross-sectional muscle area (CSMA) derived from computed tomography (CT) does. OBJECTIVES: The present study aimed to compare CT and DXA for the assessment of muscle tissue. DESIGN AND SETTING: Cross-sectional study in the local residents. PARTICIPANTS: A total of 1818 subjects (age 40-89 years) randomly selected from community dwellers underwent CT examination of the right mid-thigh to measure the cross-sectional muscle area (CSMA). Skeletal muscle mass (SMM) was measured by DXA. The subjects performed physical function tests such as grip strength, knee extension strength, leg extension strength, and gait speed. The correlation between CT-derived CSMA and DXA-derived SMM along with their association with physical function was examined. RESULTS: After controlling for related factors, the partial correlation coefficient of muscle cross-sectional area (CSA) with physical function was larger than that of DXA-derived SMM for gait speed in men (p=0.002) and knee extension strength in women (p=0.03). The partial correlation coefficient of quadriceps (Qc) CSA with physical function was larger than that of DXA-derived SMM for leg extension power in both sexes (p=0.01), gait speed in men (p<0.001), and knee extension strength in women (p<0.001). CONCLUSION: Mid-thigh CT-derived CSMA, especially Qc CSA, showed significant associations with grip strength, knee extension strength, and leg extension power, which were equal to or stronger than those of DXA-derived SMM in community-dwelling middle-aged and older Japanese people. The mid-thigh CSMA may be a predictor of mobility disability, and is considered to be useful in the diagnosis of sarcopenia.

Dietary factors associated with the development of physical frailty in community-dwelling older adults.

OBJECTIVES: Nutrition plays an important role in the development of frailty, and the present study examined the association between energy, macronutrient, and food intake and the development of physical frailty. DESIGN: Prospective cohort study. SETTING: The National Institute for Longevity Sciences - Longitudinal Study of Aging (NILS-LSA), a community-based study. PARTICIPANTS: Participants included 166 men and 117 women aged 65-86 years without frailty components at baseline who participated in both the sixth (2008-2010) and seventh (2010-2012) waves of the NILS-LSA. MEASUREMENTS: Physical frailty was assessed using the modified criteria established by the Cardiovascular Health Study (2001). All participants were classified as "robust (number of frailty components: 0)," "prefrail (1-2)," or "frail (3-5)." Energy, macronutrient, and food intake was calculated based on 3-day dietary records during the sixth wave. Associations between dietary intake per day and the development of frailty 2 years later (from robust at the sixth wave to prefrail/frail at the seventh wave) were examined using multiple logistic regression analysis after adjusting for sex, baseline age, and other covariables. RESULTS: Among the participants included, 36% were classified as prefrail/frail 2 years later. Higher energy [1 standard deviation (SD), odds ratio (95% confidence interval): 362 kcal, 0.68 (0.49-0.94)], protein [16 g, 0.72 (0.53-0.97)], and fat [15 g, 0.69 (0.52-0.92)] intake was negatively associated with frailty development. Higher meat [38 g, 0.68 (0.51-0.92)] and dairy [114 g, 0.73 (0.55-0.96)] intake was negatively associated with frailty development. Higher energy intake was negatively associated with the development of weakness (low grip strength) and low activity, while higher protein intake was negatively associated with the development of low activity. CONCLUSION: Increased consumption of meat and dairy products may provide sufficient protein and fat necessary for achieving higher energy intake, thereby effectively preventing physical frailty among older Japanese individuals.

Men who were thin during early adulthood exhibited greater weight gain-associated visceral fat accumulation in a study of middle-aged Japanese men.

OBJECTIVE: This study aimed to assess the relationship between weight gain from early adulthood and visceral fat accumulation. METHODS: The participants were 549 men aged 42 to 64 years who were randomly selected from the local resident registry for the National Institute for Longevity Sciences' neighbourhood. They were asked to recall their weight at 18 years of age, and then, post-18 weight-change values were calculated for each participant (their current weight minus their weight at 18). The participants were divided according to their median body mass index (BMI) at 18 years of age (initial BMI) (<20.14 and ≥20.14 kg m-2). Visceral fat area (VFA) and subcutaneous fat area (SFA) were measured on computed tomography scans. RESULTS: The participants with initial BMI of <20.14 kg m-2 exhibited greater post-18 weight changes than those with initial BMI of ≥20.14 kg m-2. The participants' post-18 weight-change values were negatively correlated with their initial BMI and positively correlated with both VFA and SFA. The slope of the regression line for the relationship between post-18 weight change and VFA was steeper in the participants with initial BMI of <20.14 kg m-2 (ß = 4.36) than in those with initial BMI of ≥20.14 kg m-2 (ß = 3.23). CONCLUSIONS: Visceral fat accumulation is affected not only by an individual's post-18 weight gain but also by their initial BMI. Men who were thin in early adulthood experienced greater weight gain-associated VFA increases, but the same was not true for SFA.