BIN1 regulates BACE1 intracellular trafficking and amyloid-β production.

BIN1 is a genetic risk factor of late-onset Alzheimer disease (AD), which was identified in multiple genome-wide association studies. BIN1 is a member of the amphiphysin family of proteins, and contains N-terminal Bin-Amphiphysin-Rvs and C-terminal Src homology 3 domains. BIN1 is widely expressed in the mouse and human brains, and has been reported to function in the endocytosis and the endosomal sorting of membrane proteins.

Thermal sensation during mild hyperthermia is modulated by acute postural change in humans.

Thermal sensation represents the primary stimulus for behavioral and autonomic thermoregulation. We assessed whether the sensation of skin and core temperatures for the driving force of behavioral thermoregulation was modified by postural change from the supine (Sup) to sitting (Sit) during mild hyperthermia. Seventeen healthy young men underwent measurements of noticeable increase and decrease (±0.

Erratum: Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals.

[This corrects the article DOI: 10.1038/hgv.2015.

Polymorphisms in the TMEM132D region are associated with panic disorder in HLA-DRB1*13:02-negative individuals of a Japanese population.

We herein report an association between TMEM132D and panic disorder (PD) in a Japanese population, evaluating the effects of HLA-DRB1*13:02, which we previously reported as a susceptibility genetic factor for PD. SNPs in TMEM132D showed significant associations with PD in subjects without HLA-DRB1*13:02 (rs4759997; P=5.02×10(-6), odds ratio=1.

Identification of ITPA on chromosome 20 as a susceptibility gene for young-onset tuberculosis.

Tuberculosis (TB) is a complex disease, and both genetic and environmental factors contribute to disease progression. A previous genome-wide linkage study in Thailand determined that chromosome 20p13-12.3 may contain risk factors for young-onset disease.

Forced respiration during the deeper water immersion causes the greater inspiratory muscle fatigue in healthy young men.

[Purpose] The purpose of the present study was to evaluate the effect of water immersion at different water depths on respiratory function and the effect of inspiratory load breathing (ILB) during water immersion at different water depths on respiratory muscle strength evaluated by maximum inspiratory and expiratory pressures (PImax and PEmax, respectively). [Subjects] Eight healthy men participated randomly in three trials. [Methods] All sessions were conducted with the participants in a sitting position immersed in a water bath.

[Subjective memory complaints (SMC)].

Subjective memory complaints without objective cognitive impairments are common in elderly people. Recent evidence indicates subjective memory complaints is not merely a sign of a depressive state or an aging phenomenon, but an important risk factor for proceeding to mild cognitive impairment (MCI) and dementia in the future. Even when cognitively intact through the life, people with SMC tend to have more Alzheimer's disease (AD) pathology in the brain, which recently been defined as preclinical AD.

Lower thermal sensation in normothermic and mildly hyperthermic older adults.

Purpose: It is important to know how thermal sensation is affected by normal aging under conditions that elevate core body temperature for the prevention of heat-related illness in older people. We assessed whether thermal sensation under conditions of normothermia (NT) and mild hyperthermia (HT) is lowered in older adults.

Methods: Seventeen younger (23 ±  3 years) and 12 older (71 ±  3 years) healthy men underwent measurements of the cold and warmth detection thresholds ( ± 0.

Combination of prostate imaging reporting and data system (PI-RADS) score and prostate-specific antigen (PSA) density predicts biopsy outcome in prostate biopsy naïve patients.

Objective: To assess the value of the Prostate Imaging Reporting and Data System (PI-RADS) scoring system, for prostate multi-parametric magnetic resonance imaging (mpMRI) to detect prostate cancer, and classical parameters, such as prostate-specific antigen (PSA) level, prostate volume and PSA density, for predicting biopsy outcome in biopsy naïve patients who have suspected prostate cancer.

Patients And Methods: Patients who underwent mpMRI at our hospital, and who had their first prostate biopsy between July 2010 and April 2014, were analysed retrospectively. The prostate biopsies were taken transperineally under transrectal ultrasonography guidance.

[SMALL CELL CARCINOMA OF THE PROSTATE: A CASE REPORT OF RELATIVE LONG-TERM SURVIVAL].

Small cell carcinoma of the prostate (SCCP) is rare, and no standard treatment regimen has yet been established. The overall prognosis remains poor. We experienced a case who obtained relative long-term survival with two types of chemotherapy treatments.

Azithromycin recovers reductions in barrier function in human gingival epithelial cells stimulated with tumor necrosis factor-α.

Objective: The gingival epithelium plays an important role in protecting against the invasion of periodontal pathogens, and the permeability of gingival epithelial cells has been implicated in the initiation of periodontitis. Azithromycin (AZM) has been used in the treatment of chronic inflammatory airway diseases because it regulates cell-cell contact in airway epithelial cells. Therefore, AZM may also regulate barrier function in gingival epithelial cells.

Treadmill walking in water induces greater respiratory muscle fatigue than treadmill walking on land in healthy young men.

The purpose of the present study was to investigate the effect of walking in water on respiratory muscle fatigue compared with that of walking on land at the same exercise intensity. Ten healthy males participated in 40-min treadmill walking trials on land and in water at an intensity of 60% of peak oxygen consumption. Respiratory function and respiratory muscle strength were evaluated before and after walking trials.

[A CASE OF GRANULOCYTIC SARCOMA IN THE BILATERAL URETER].

A 61-year-old female presented with the complaints of fever and left back pain. She had previously undergone bone marrow transplantation for acute myeloid leukemia and achieved remission. Abdominal computed tomography (CT) revealed left hydronephrosis and suspected tumor lesions in the right upper ureter and left lower ureter.

Efficacy of magnetic resonance imaging in the diagnosis of perianal hidradenitis suppurativa, complicated by anal fistulae: A report of two cases and review of the literature.

Background: Perianal hidradenitis suppurativa (PHS) is a chronic recurrent inflammatory disease of the apocrine glands present in the skin and soft tissue adjacent to the anus. It is often misdiagnosed or treatment is delayed, resulting in the formation of an abscess or, in the worst case, leading to sepsis. It is difficult to treat perianal lesions merged with fistulae completely due to its high recurrence rate.

Heavy hematuria requiring cystectomy in a patient with hemophilia A: a case report and literature review.

Background: Hemophilia A is an X-linked recessive disorder caused by a deficiency in factor VIII. Hemophilia A affects 1 in 5,000-10,000 males. Hematuria is frequent in hemophilia.

The effect of cognitive-motor dual-task training on cognitive function and plasma amyloid β peptide 42/40 ratio in healthy elderly persons: a randomized controlled trial.

Background: Physical activity reduces the incidence and progression of cognitive impairment. Cognitive-motor dual-task training, which requires dividing attention between cognitive tasks and exercise, may improve various cognitive domains; therefore, we examined the effect of dual-task training on the executive functions and on plasma amyloid β peptide (Aβ) 42/40 ratio, a potent biomarker of Alzheimer's disease, in healthy elderly people.

Methods: Twenty-seven sedentary elderly people participated in a 12-week randomized, controlled trial.

A polymorphism in CCR1/CCR3 is associated with narcolepsy.

Etiology of narcolepsy-cataplexy involves multiple genetic and environmental factors. While the human leukocyte antigen (HLA)-DRB1*15:01-DQB1*06:02 haplotype is strongly associated with narcolepsy, it is not sufficient for disease development. To identify additional, non-HLA susceptibility genes, we conducted a genome-wide association study (GWAS) using Japanese samples.

Cutaneous apocrine carcinoma of the scrotum: A case with widespread subcutaneous induration.

Cutaneous apocrine carcinoma (CAC) is a rare malignancy. It develops predominantly in the regions where apocrine glands are distributed. Some cases of CAC have been reported in the axilla and the inguinal regions, but only a few in the scrotum.

High-accuracy imputation for HLA class I and II genes based on high-resolution SNP data of population-specific references.

Statistical imputation of classical human leukocyte antigen (HLA) alleles is becoming an indispensable tool for fine-mappings of disease association signals from case-control genome-wide association studies. However, most currently available HLA imputation tools are based on European reference populations and are not suitable for direct application to non-European populations. Among the HLA imputation tools, The HIBAG R package is a flexible HLA imputation tool that is equipped with a wide range of population-based classifiers; moreover, HIBAG R enables individual researchers to build custom classifiers.

Immune-related pathways including HLA-DRB1(∗)13:02 are associated with panic disorder.

Panic disorder (PD) is an anxiety disorder characterized by panic attacks and anticipatory anxiety. Both genetic and environmental factors are thought to trigger PD onset. Previously, we performed a genome-wide association study (GWAS) for PD and focused on candidate SNPs with the lowest P values.

An association analysis of HLA-DQB1 with narcolepsy without cataplexy and idiopathic hypersomnia with/without long sleep time in a Japanese population.

Narcolepsy without cataplexy (NA w/o CA) (narcolepsy type 2) is a lifelong disorder characterized by excessive daytime sleepiness and rapid eye movement (REM) sleep abnormalities, but no cataplexy. In the present study, we examined the human leukocyte antigen HLA-DQB1 in 160 Japanese patients with NA w/o CA and 1,418 control subjects. Frequencies of DQB1*06:02 were significantly higher in patients with NA w/o CA compared with controls (allele frequency: 16.

New susceptibility variants to narcolepsy identified in HLA class II region.

Narcolepsy, a sleep disorder characterized by excessive daytime sleepiness, cataplexy and rapid eye movement sleep abnormalities, is tightly associated with human leukocyte antigen HLA-DQB1*06:02. DQB1*06:02 is common in the general population (10-30%); therefore, additional genetic factors are needed for the development of narcolepsy. In the present study, HLA-DQB1 in 664 Japanese narcoleptic subjects and 3131 Japanese control subjects was examined to determine whether HLA-DQB1 alleles located in trans of DQB1*06:02 are associated with narcolepsy.