Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients.

Objective: Temple syndrome (TS14) is a rare 14q32.2-related imprinting disorder. Here, we report comprehensive clinical findings in TS14.

Intestinal butyric acid-mediated disruption of gut hormone secretion and lipid metabolism in vasopressin receptor-deficient mice.

Objectives: Arginine vasopressin (AVP), known as an antidiuretic hormone, is also crucial in metabolic homeostasis. Although AVP receptor-deficient mice exhibit various abnormalities in glucose and lipid metabolism, the mechanism underlying these symptoms remains unclear. This study aimed to explore the involvement of the gut hormones including glucagon-like peptide-1 (GLP-1) and microbiota as essential mediators.

Clinical Significance of miR-4535 and miR-191-5p in Maternal Serum as Independent Biomarkers for Severe Chorioamnionitis.

Introduction: Chorioamnionitis, a perinatal condition caused by fetal membrane inflammation, results in preterm birth, neonatal sepsis, necrotizing enterocolitis, and brain disease in infants. However, predicting maternal and fetal prognoses is challenging. We aimed to assess the relationship between fetal infection induced by severe chorioamnionitis or morbidity and the expression levels　of serum miR-4535, miR-1915-5p, and miR-191-5p levels, which are promising biomarkers for chorioamnionitis, in pregnant women with chorioamnionitis.

JCCG ALL-B12: Evaluation of Intensified Therapies With Vincristine/Dexamethasone Pulses and Asparaginase and Augmented High-Dose Methotrexate for Pediatric B-ALL.

Purpose: The JCCG ALL-B12 clinical trial aimed to evaluate the effectiveness of unvalidated treatment phases for pediatric ALL and develop a safety-focused treatment framework.

Patients And Methods: Patients age 1-19 years with newly diagnosed B-ALL were enrolled in this study. These patients were stratified into standard-risk (SR), intermediate-risk (IR), and high-risk (HR) groups.

Bcl2l12, a novel protein interacting with Arf6, triggers Schwann cell differentiation program.

Schwann cells are glial cells in the peripheral nervous system (PNS); they wrap neuronal axons with their differentiated plasma membranes called myelin sheaths. Although the physiological functions, such as generating saltatory conduction, have been well studied in the PNS, the molecular mechanisms by which Schwann cells undergo their differentiation program without apparent morphological changes before dynamic myelin sheath formation remain unclear. Here, for the first time, we report that Arf6, a small GTP/GDP-binding protein controlling morphological differentiation, and the guanine-nucleotide exchange factors cytohesin proteins are involved in the regulation of Schwann cell differentiation marker expression in primary Schwann cells.

IL-10 promotes Th17 cell differentiation by enhancing STAT1-dependent IL-6 production via IgE-stimulated mast cells.

Mast cells (MCs) are tissue-resident cells of hematopoietic origin that play an important role in host's defense mechanism against nematodes. However, excessive activation of these cells contributes to the development of certain allergic diseases. Immunoglobin E (IgE) is one of the well-known molecules that activate MCs.

Supervised machine learning of outbred mouse genotypes to predict hepatic immunological tolerance of individuals.

It is essential to elucidate the molecular mechanisms underlying liver transplant tolerance and rejection. In cases of mouse liver transplantation between inbred strains, immunological rejection of the allograft is reduced with spontaneous apoptosis without immunosuppressive drugs, which differs from the actual clinical result. This may be because inbred strains are genetically homogeneous and less heterogeneous than others.

Evaluation of 3β-hydroxysteroid dehydrogenase activity using progesterone and androgen receptors-mediated transactivation.

3β-Hydroxysteroid dehydrogenases (3β-HSDs) catalyze the oxidative conversion of delta (5)-ene-3-beta-hydroxy steroids and ketosteroids. Human 3β-HSD type 2 (HSD3B2) is predominantly expressed in gonadal and adrenal steroidogenic cells for producing all classes of active steroid hormones. Mutations in HSD3B2 gene cause a rare form of congenital adrenal hyperplasia with varying degree of salt wasting and incomplete masculinization, resulting from reduced production of corticoids and androgens.

Genetic analysis of a Yayoi individual from the Doigahama site provides insights into the origins of immigrants to the Japanese Archipelago.

Mainland Japanese have been recognized as having dual ancestry, originating from indigenous Jomon people and immigrants from continental East Eurasia. Although migration from the continent to the Japanese Archipelago continued from the Yayoi to the Kofun period, our understanding of these immigrants, particularly their origins, remains insufficient due to the lack of high-quality genome samples from the Yayoi period, complicating predictions about the admixture process. To address this, we sequenced the whole nuclear genome of a Yayoi individual from the Doigahama site in Yamaguchi prefecture, Japan.

Stigma of coronavirus disease 2019 among hospitalized children and their parents: A prospective cohort study.

Background: The stigma associated with coronavirus disease 2019 (COVID-19) is a global problem that causes psychosomatic distress, including depression, anxiety, and loneliness. However, few studies have investigated the stigma of COVID-19 and the associated mental health impact on children or parents.

Methods: We conducted a prospective cohort study at the National Center for Child Health and Development in Tokyo, Japan, between November 2021 and October 2022.

Formulation of adult food-protein-induced enterocolitis syndrome diagnostic scoring system differentiating from immediate-type food allergy.

Background: Adult food-protein-induced enterocolitis syndrome (FPIES) has recently been recognized, and there are no international diagnostic criteria for this disease. Differentiating adult FPIES from immediate-type food allergy reactions and providing specific treatment for each in an emergency are important, but methods have not been developed.

Objective: To develop a diagnostic scoring system for adult FPIES by comparing it with an immediate-type food allergy (IgE-mediated food allergy [IgE-FA]).

Initial clinical manifestations in a young male with -variant-associated diabetes.

To date, heterozygous loss-of-function variants of have been identified in 13 families with diabetes. Here, we present initial clinical information regarding a young male with diabetes who carried a heterozygous nonsense variant of (p.Arg377Ter) previously reported in his family with diabetes.

Dysregulation of RAS proteostasis by autosomal-dominant LZTR1 mutation induces Noonan syndrome-like phenotypes in mice.

Leucine-zipper-like posttranslational regulator 1 (LZTR1) is a member of the BTB-Kelch superfamily, which regulates the RAS proteostasis. Autosomal dominant (AD) mutations in LZTR1 have been identified in patients with Noonan syndrome (NS), a congenital anomaly syndrome. However, it remains unclear whether LZTR1 AD mutations regulate the proteostasis of the RAS subfamily molecules or cause NS-like phenotypes in vivo.

Compound heterozygous variants in a man with isolated nonobstructive azoospermia.

Case: A 40-year-old Japanese man with nonobstructive azoospermia (NOA) was found to carry rare variants in a newly identified causative gene for spermatogenic failure. This patient was identified through mutation screening of in 97 men with etiology-unknown isolated NOA.

Outcome: The patient had two heterozygous variants in that affect consensus sequences of splice-donor sites [c.