Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion.

Background: Sex-determining region Y-box 2 (SOX2) plays an important role in the early embryogenesis of the eye, forebrain, and hypothalamic-pituitary axis. Anophthalmia, microphthalmia, and hormonal abnormalities are commonly observed in patients with SOX2-related disorders. Although gait disturbance, particularly ataxic gait, has recently been observed in several cases, detailed data regarding the clinical course of gait disturbance in SOX2-related disorders are limited.

Maternal fructose consumption downregulates hippocampal catalase expression via DNA methylation in rat offspring.

Some studies have demonstrated that excessive fructose consumption negatively impact brain function. Recently, the Developmental Origins of Health and Disease hypothesis - which suggests that maternal nutritional status during gestation and lactation can alter offspring phenotype - has received much attention. In a previous study, we demonstrated that maternal fructose consumption increases levels of lipid peroxides in hippocampi of offspring.

Association between circulating microRNAs and changes in kidney function: A five-year prospective study among Japanese adults without CKD.

Background: Although a number of microRNAs (miRNA) reflecting kidney function has been identified, prospective studies are now urgently needed to determine a clinical utility of these miRNAs among general populations. The purpose of this study was to examine the associations between serum miRNAs and kidney function in a population-based study.

Methods: We conducted a five-year prospective study (2012-2017) of 169 individuals without chronic kidney disease (CKD) at the baseline survey (mean age, 62.

Long-Term Outcomes and Evaluation of Hepatocellular Carcinoma Recurrence after Hepatitis C Virus Eradication by Direct-Acting Antiviral Treatment: All Kagawa Liver Disease Group (AKLDG) Study.

There are limited studies that have evaluated the long-term outcomes in patients with hepatocellular carcinoma (HCC) recurrence after direct-acting antiviral (DAA) treatment. In this retrospective study, we aimed to investigate the recurrence rates, recurrence factors, and prognosis of 130 patients who were treated with IFN-free DAA treatment after treatment for HCC. The median observation time was 41 ± 13.

An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.

Backgrounds & Aims: Primary biliary cholangitis (PBC) is a chronic liver disease in which autoimmune destruction of the small intrahepatic bile ducts eventually leads to cirrhosis. Many patients have inadequate response to licensed medications, motivating the search for novel therapies. Previous genome-wide association studies (GWAS) and meta-analyses (GWMA) of PBC have identified numerous risk loci for this condition, providing insight into its aetiology.

Usefulness of presepsin / creatinine ratio as a new index that corrects for renal function.

Background : Presepsin (P-SEP) is a highly specific sepsis marker, and its fluctuation with respect to advanced renal impairment or sample agitation has not been fully investigated. We evaluated several renal function-corrected P-SEP indices to establish a simple index and its reference range. Methods : Blood samples for P-SEP measurement were collected with minimal agitation.

Diet and Nutrition for Hepatitis.

The impairment of liver function frequently causes various type of malnutrition, as the liver is one of the most important organs involved in maintaining nutritional homeostasis [...

Galectin‑9 suppresses the tumor growth of colon cancer and .

Colon cancer is the second leading cause of cancer‑related mortality worldwide, and the prognosis of advanced colon cancer has remained poor in recent years. Galectin‑9 (Gal‑9) is a tandem‑repeat type galectin that has recently been shown to exert antiproliferative effects on various types of cancer cells. The present study aimed to assess the effects of Gal‑9 on human colon and colorectal cancer cells and , as well as to evaluate the microRNAs (miRNAs/miRs) associated with the antitumor effects of Gal‑9.

Prognosis of probable autoimmune hepatitis patients: a single-center study in Japan.

Autoimmune hepatitis (AIH) is an idiopathic inflammatory liver disease with genetic susceptibility and unknown environmental triggers. The gold standard for diagnosis, International Autoimmune Hepatitis Group (IAIHG) scoring system, classifies AIH as definite or probable. Conventional research on probable AIH has focused on the Caucasian population and there is little data pertaining to the Asian population.

Global DNA hypermethylation in peripheral blood mononuclear cells and cardiovascular disease risk: a population-based propensity score-matched cohort study.

Background: DNA methylation plays an important role in the pathogenesis and progression of cardiovascular disease (CVD) but the prospective association of DNA methylation with CVD has not been evaluated. Here, we conducted a prospective study to examine whether long interspersed nuclear element-1 (LINE-1) DNA methylation is associated with CVD mortality in a Japanese population.

Methods: We targeted 822 Japanese who participated in a health check-up in 1990 and had no clinical history of cancer, stroke or ischaemic heart disease.

X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis.

Background & Aims: Genome-wide association studies in primary biliary cholangitis (PBC) have failed to find X chromosome (chrX) variants associated with the disease. Here, we specifically explore the chrX contribution to PBC, a sexually dimorphic complex autoimmune disease.

Methods: We performed a chrX-wide association study, including genotype data from 5 genome-wide association studies (from Italy, United Kingdom, Canada, China, and Japan; 5244 case patients and 11,875 control individuals).

Albumin platelet product as a novel score for liver fibrosis stage and prognosis.

Fibrosis-4 index, a conventional biomarker for liver fibrosis stage, is confounded by age and hepatitis activity grade. The current retrospective multicenter study aimed to formulate the novel indices of liver fibrosis by mathematically combining items of peripheral blood examination and to evaluate ability of prognosis prediction. After a novel index was established in a training cohort, the index was tested in a validation cohort.

Association between microRNA-527 and glypican-3 in hepatocellular carcinoma.

The present study aimed to identify the specific microRNAs (miRNAs/miRs) and their corresponding target genes involved in hepatocellular carcinomas (HCCs). Microarray analysis was performed to examine the miRNA expression profiles of four paired HCC and corresponding non-cancerous (N) liver tissues using 985 miRNA probes. The Human miRNA Target database was used to identify the target genes of differentially expressed miRNAs between the HCC and N tissues.

Effect of pegylated interferon alfa-2a in HBeAg-negative chronic hepatitis B during and 48 weeks after off-treatment follow-up: the limitation of pre-treatment HBsAg load for the seroclearance of HBsAg.

Hepatitis B virus (HBV) infection is a major public health problem worldwide. The study aimed to evaluate the efficacy of pegylated interferon (Peg-IFN) alfa-2a treatment for seroclearance of HBs antigen (HBsAg) in HBe antigen (HBeAg)-negative chronic hepatitis B (CHB) patients. This retrospective study investigated 16 HBeAg-negative CHB patients who received Peg-IFN alfa-2a weekly for 48 weeks.

Phase Lag Analyses on Ictal Scalp Electroencephalography May Predict Outcomes of Corpus Callosotomy for Epileptic Spasms.

We aimed to clarify the patterns of ictal power and phase lag among bilateral hemispheres on scalp electroencephalography (EEG) recorded pre-operatively during epileptic spasms (ESs) and the correlation with the outcomes following corpus callosotomy. We enrolled 17 patients who underwent corpus callosotomy for ESs before 20 years of age. After corpus callosotomy, seven patients did not experience further ESs (favorable outcome group), and the remaining 10 patients had ongoing ESs (unfavorable outcome group).

The Japan Geriatrics Society consensus statement "recommendations for older persons to receive the best medical and long-term care during the COVID-19 outbreak-considering the timing of advance care planning implementation".

Since the end of 2019, a life-threatening infectious disease (coronavirus disease 2019: COVID-19) has spread globally, and numerous victims have been reported. In particular, older persons tend to suffer more severely when infected with a novel coronavirus (SARS-CoV-2) and have higher case mortality rates; additionally, outbreaks frequently occur in hospitals and long-term care facilities where most of the residents are older persons. Unfortunately, it has been stated that the COVID-19 pandemic has caused a medical collapse in some countries, resulting in the depletion of medical resources, such as ventilators, and triage based on chronological age.

Frequent epileptic apnoea in a patient with Pitt-Hopkins syndrome.

Pitt-Hopkins syndrome is a rare genetic disease, characterised by severe intellectual disability, distinctive dysmorphic features, epilepsy and distinctive breathing abnormalities during wakefulness. Here, we describe the case of a 22-year-old woman with Pitt-Hopkins syndrome who presented with intractable generalised tonic seizures from the age of 11 years, which increased in frequency with age and onset of menstruation despite usage of some anticonvulsant drugs. From the age of 16 years, polysomnography and video-EEG led to the detection of frequent epileptic apnoea during sleep.

A case report of granulocyte colony-stimulating factor-producing hepatocellular carcinoma that recurred after long-term complete response.

The granulocyte colony-stimulating factor (G-CSF) is a glycoprotein that stimulates cell proliferation and differentiation of precursor cells in the bone marrow. Several cases of G-CSF-producing malignant tumors in various organs have been reported, but there are only nine cases of G-CSF-producing hepatocellular carcinoma (HCC) reported in the English literature. G-CSF-producing tumors grow rapidly and have a high probability of distant metastases; thus, they generally have a poor prognosis.

Dietary fish and ω-3 polyunsaturated fatty acids are associated with leukocyte ABCA1 DNA methylation levels.

Objectives: A diet rich in fish and ω-3 polyunsaturated fatty acids (PUFAs) has been thought to reduce the risk for cardiovascular disease (CVD). The beneficial effects of fish oil and ω-3 PUFA on CVD can be mediated by epigenetic status of the genes associated with lipid metabolism and inflammation. The aim of this study was to investigate whether dietary fish and fatty acid (FA) intakes are associated with leukocyte ATP-binding cassette transporter A1 (ABCA1) DNA methylation levels in a Japanese population.

Clinical and cost-effectiveness of nurse-led cognitive behavioral group therapy for recovery of self-esteem among individuals with mental disorders: A single-group pre-post study.

Aim: To investigate whether the addition of a nurse-led cognitive behavioral group therapy for recovery of self-esteem (CBGTRS) program to usual care for individuals with mental disorders can improve clinical outcomes and reduce direct medical costs.

Methods: This study employed single-group pre-post design, and recruited 51 community-dwelling individuals with mental disorders. Participants received 12 weekly CBGTRS sessions by a nurse in addition to usual care.

Japan Geriatrics Society "Recommendations for the Promotion of Advance Care Planning": End-of-Life Issues Subcommittee consensus statement.

The Japan Geriatrics Society has so far announced "The Japan Geriatrics Society Position Statement 2012" and "Guidelines for the Decision-Making Processes in Medical and Long-Term Care for the Elderly - Focusing on the Use of Artificial Hydration and Nutrition" related to end-of-life care for older adults. In 2018, the Ministry of Health, Labor and Welfare revised the "Guidelines for the Decision-Making Processes in Medical and Long-Term Care in the End of Life," recommending the practice of advance care planning (ACP). This was the first time when the Japanese government publicized its stance on ACP.

MicroRNA-150 suppresses p27 expression and promotes cell proliferation in HeLa human cervical cancer cells.

MicroRNAs (miRNAs) exert critical roles in the majority of biological and pathological processes. Recent studies have associated miR-150 with a number of different cancer types. However, little is known about miR-150 targets in cervical cancer.

L-carnitine reduces hospital admissions in patients with hepatic encephalopathy.

Aim: The aim of this study was to determine whether oral L-carnitine administration reduces the blood ammonia concentration and number of hospital admissions for hepatic encephalopathy in patients with advanced cirrhosis.

Methods: Of 68 patients with hepatic encephalopathy treated with oral L-carnitine supplementation from April 2013 to March 2016, we enrolled 19 patients who had received full standard treatment. We analyzed blood ammonia concentration, number of hospital admissions, and prognosis to determine how effective L-carnitine was in achieving mid-term to long-term suppression of recurrent hepatic encephalopathy.

Seasonal Changes in Continuous Sedentary Behavior in Community-Dwelling Japanese Adults: A Pilot Study.

Sedentary behavior (SB) is associated with adverse health outcomes. The aim of this study was to clarify seasonal changes in SB including continuous SB (CSB) in community-dwelling Japanese adults. In this secondary analysis, a total of 65 community-dwelling Japanese adults (7 men and 58 women, 69 (50-78) years) were enrolled.