C-Mannosylated tryptophan-containing WSPW peptide binds to actinin-4 and alters E-cadherin subcellular localization in lung epithelial-like A549 cells.

The Trp-x-x-Trp (W-x-x-W) peptide motif, a consensus site for C-mannosylation, is the functional motif in cytokine type I receptors or thrombospondin type I repeat (TSR) superfamily proteins. W-x-x-W motifs are important for physiological and pathological functions of their parental proteins, but effects of C-mannosylation on protein functions remain to be elucidated. By using chemically synthesized WSPW peptides and C-mannosylated WSPW peptides (C-Man-WSPW), we herein investigated whether C-mannosylation of WSPW peptides confer additional biological functions to WSPW peptides.

Prospective Multicenter Interventional Study of Surgical Resection for Liver Metastasis from Gastric Cancer: R0 Resection Rate, and Operative Morbidity and Mortality.

Background: The optimal treatment for liver metastasis from gastric cancer (LMGC) remains uncertain. The relevance of surgical resection is controversial. We conducted a prospective multicenter interventional study of surgical resection for LMGC.

Associations Between Occupational Status, Support at Work, and Salivary Cortisol Levels.

Objective: The present study investigated associations between occupation, job stress, and salivary cortisol levels after psychological tasks.

Methods: We examined 766 (273 men and 493 women) healthy employed Japanese participants aged 21 to 68 years (mean age = 46.4 years, standard deviation = 8.

Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG).

MAN1B1-CDG is a multisystem disorder caused by mutations in , encoding the endoplasmic reticulum mannosyl-oligosaccharide alpha-1,2-mannnosidase. A defect leads to dysfunction within the degradation of misfolded glycoproteins. We present two additional patients with MAN1B1-CDG and a resulting defect in endoplasmic reticulum-associated protein degradation.

Patellar resurfacing has minimal impact on in vitro tibiofemoral kinematics during deep knee flexion in total knee arthroplasty.

Background: While patellar resurfacing can affect patellofemoral kinematics, the effect on tibiofemoral kinematics is unknown. We hypothesized that patellar resurfacing would affect tibiofemoral kinematics during deep knee flexion due to biomechanical alteration of the extensor mechanism.

Methods: We performed cruciate-retaining TKA in fresh-frozen human cadaveric knees (N = 5) and recorded fluoroscopic kinematics during deep knee flexion before and after the patellar resurfacing.

Nationwide study of mortality and survival in pregnancy-related streptococcal toxic shock syndrome.

Aim: Streptococcal toxic shock syndrome is associated with the highest infection-related maternal mortality rates. We conducted a comparative analysis of the background factors and treatment course between survivors and nonsurvivors to improve our understanding concerning the optimal initial treatment approach for this fulminant disease.

Methods: This retrospective observational study was conducted based on clinical data collected from two national organizations.

Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance.

Aims: Monogenic diabetes is clinically heterogeneous and differs from common forms of diabetes (type 1 and 2). We aimed to investigate the clinical usefulness of a comprehensive genetic testing system, comprised of targeted next-generation sequencing (NGS) with phenotype-driven bioinformatics analysis in patients with monogenic diabetes, which uses patient genotypic and phenotypic data to prioritize potentially causal variants.

Methods: We performed targeted NGS of 383 genes associated with monogenic diabetes or common forms of diabetes in 13 Japanese patients with suspected (n = 10) or previously diagnosed (n = 3) monogenic diabetes or severe insulin resistance.

Outgrowth of erlotinib-resistant subpopulations recapitulated in patient-derived lung tumor spheroids and organoids.

A model that recapitulates development of acquired therapeutic resistance is needed to improve oncology drug development and patient outcomes. To achieve this end, we established methods for the preparation and growth of spheroids from primary human lung adenocarcinomas, including methods to culture, passage, monitor growth, and evaluate changes in mutational profile over time. Primary lung tumor spheroids were cultured in Matrigel® with varying concentrations of erlotinib, a small molecule kinase inhibitor of epidermal growth factor receptor (EGFR) that is ineffective against KRAS mutant cells.

Evaluation of prognosis following early disease progression in peripheral T-cell lymphoma.

Recently, progression of disease within 24 months (POD24) has been demonstrated as a strong prognostic indicator in various types of malignant lymphoma. Peripheral T-cell lymphoma (PTCL) has an aggressive course and poor clinical outcomes. In this multicenter retrospective study, 111 consecutively registered patients with newly diagnosed PTCL were analyzed.

Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited.

Context: Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in STAR. Classic (CLCAH) and nonclassic (NCLCAH) forms were reported as total and partial deficiencies, respectively, of adrenal and gonadal steroid hormones. The rarity of LCAH has precluded large-scale epidemiological and clinical investigations.

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Effectiveness of an Educational Video in Maternity Wards to Prevent Self-Reported Shaking and Smothering during the First Week of Age: A Cluster Randomized Controlled Trial.

This study aimed to investigate whether watching an educational video on infant crying and the dangers of shaking and smothering within 1 week after delivery at maternity wards reduces self-reported shaking and smothering, at a 1-month health checkup. A cluster randomized controlled trial, stratified by area and hospital function, was employed in 45 obstetrics hospitals/clinics in Osaka Prefecture, Japan. In the intervention group, mothers watched an educational video on infant crying and the dangers of shaking and smothering an infant, within 1 week of age, during hospitalization at maternity wards, without blinding on group allocation.

Therapeutic efficacy of lenvatinib in hepatocellular carcinoma patients with portal hypertension.

Aim: Preserved liver function may be an important factor affecting therapeutic efficacy in hepatocellular carcinoma patients treated with lenvatinib, but not all patients can be treated while preserving liver function. This study evaluated the therapeutic efficacy of lenvatinib in patients with poor liver function with and without portal hypertension.

Methods: This prospectively registered multicenter study analyzed 93 patients treated with lenvatinib.

Can we safely reduce the radiation dose to the heart while compromising the dose to the lungs in oesophageal cancer patients?

Purpose: The aim of this study was to evaluate which clinical and treatment-related factors are associated with heart and lung toxicity in oesophageal cancer patients treated with chemoradiation (CRT). The secondary objective was to analyse whether these toxicities are associated with overall survival (OS).

Materials And Methods: The study population consisted of a retrospective cohort of 216 oesophageal cancer patients treated with curative CRT.

A Multicenter Prospective Survey on Early-Onset Inflammatory Bowel Disease in Japan.

Introduction: The incidence of early-onset inflammatory bowel disease is increasing in Japan.

Objective: This study aimed to analyze the treatment and progress of early-onset inflammatory bowel disease.

Methods: This prospective survey evaluated the data of 43 patients aged <8 years who were diagnosed with inflammatory bowel disease (IBD) from the time of diagnosis to 36 months after registration.

TRAPγ-CDG shows asymmetric glycosylation and an effect on processing of proteins required in higher organisms.

Newly synthesised glycoproteins enter the rough endoplasmic reticulum through a translocation pore. The translocon associated protein (TRAP) complex is located close to the pore. In a patient with a homozygous start codon variant in TRAPγ (SSR3), absence of TRAPγ causes disruption of the TRAP complex, impairs protein translocation into the endoplasmic reticulum and affects transport, for example, into the brush-border membrane.

The Evaluation of Fetal Cardiac Remote Screening in the Second Trimester of Pregnancy Using the Spatio-Temporal Image Correlation Method.

We prospectively performed remote fetal cardiac screening using the spatio-temporal image correlation (STIC), and examined the usefulness and problems of remote screening. We performed heart screening for all pregnant women at four obstetrics clinics over the three years from 2009 to 2014. The STIC data from 15,404 examinations in normal pregnancies (16-27 weeks, median 25 weeks) were analyzed.

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.

Weaver syndrome (WS), an overgrowth/intellectual disability syndrome (OGID), is caused by pathogenic variants in the histone methyltransferase EZH2, which encodes a core component of the Polycomb repressive complex-2 (PRC2). Using genome-wide DNA methylation (DNAm) data for 187 individuals with OGID and 969 control subjects, we show that pathogenic variants in EZH2 generate a highly specific and sensitive DNAm signature reflecting the phenotype of WS. This signature can be used to distinguish loss-of-function from gain-of-function missense variants and to detect somatic mosaicism.

Effect of graft-versus-host disease on outcomes after pediatric single cord blood transplantation.

The effect of GVHD on transplant outcomes after unrelated cord blood transplantation (UCBT) is not yet fully understood. Pediatric patients aged 0-15 years with acute leukemia or myelodysplastic syndrome who underwent their first UCBT (n = 740) were selected from the Japanese registry. Fifty percent of the patients received a UCB unit containing more than 5.

Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing.

Background: Women who receive negative results from non-invasive prenatal genetic testing (NIPT) may find that they later have mixed or ambivalent feelings, for example, feelings of accepting NIPT and regretting undergoing the test. This study aimed to investigate the factors generating ambivalent feelings among women who gave birth after having received negative results from NIPT.

Methods: A questionnaire was sent to women who received a negative NIPT result, and a contents analysis was conducted focusing on ambivalent expressions for those 1562 women who responded the questionnaire.

Preventing postpartum depressive symptoms using an educational video on infant crying: A cluster randomized controlled trial.

Background: The aim of this study was to examine the impact of watching an educational video on infant crying within 1 week of age after delivery at maternity wards to reduce the prevalence of postpartum depressive symptoms at 1 month after giving birth.

Methods: The study design was a cluster randomized controlled trial. The intervention hospitals were randomly assigned, stratified by area and function of the hospital.

Hematopoietic stem cell transplantation for pediatric acute promyelocytic leukemia in Japan.

Background: The number of hematopoietic stem cell transplantation (HSCT) procedures performed for pediatric acute promyelocytic leukemia (APL) has decreased in the all-trans retinoic acid (ATRA) era. Although HSCT is still widely adopted as part of salvage therapy for relapsed patients, there is no general consensus about the optimal transplant type (autologous [auto-HSCT] or allogeneic HSCT [allo-HSCT]).

Procedures: We retrospectively reviewed the clinical data of 95 childhood APL patients who underwent their first HSCT between 1990 and 2014.