Dolutegravir metabolism: impact of genetic variations on uridine diphosphate glucuronosyltransferase subfamilies.

1. Dolutegravir (DTG) is a key drug used to treat human immunodeficiency virus type-1 (HIV-1) infections. Adverse events (AEs) of DTG treatment, including headache, anxiety, depression, insomnia, and abnormal dreams, are influenced by sex, body weight, age, and serum bilirubin levels.

Continuous increase in podocyte numbers in the first 36 months of life-insights from forensic autopsies in Japanese children.

Background: Podocyte depletion is a critical factor in glomerulosclerosis development. While podocyte numbers per glomerulus typically decline with age in adults, they are hypothesized to increase during childhood. However, studies on podocyte number progression in childhood have been limited.

Identification of a novel missense variant in the gene in a Japanese pedigree with familial neurohypophyseal diabetes insipidus.

Familial neurohypophyseal diabetes insipidus is a rare genetic disease caused by gene variants and is characterized by progressive polyuria and polydipsia in early childhood. Herein, we have reported the clinical symptoms and genetic test results of a Japanese patient with a family history of polyuria and polydipsia for over five generations. The proband was a 6-yr-old boy who was referred for the evaluation of polyuria and polydipsia.

Exploring Throwing Yips in Youth Baseball Players: Prevalence, Symptoms, Players' Psychological Characteristics, and Triggers.

Symptoms of "the yips" manifest in various sports and often cause athletes to retire prematurely from competition. While there have been case studies on yips-affected baseballers (YBBs), there has been no comprehensive demographic profile of YBBs, and contributing factors are only partially understood. We aimed to describe youth YBBs' demographic characteristics and explore contributing factors to yips symptoms.

Impact of advanced footwear technology for Japanese Ekiden athletes.

Background: Advanced footwear technology (AFT) was developed with the goal of running a marathon in under 2 hours. This pace (2:51 min/km) is similar to the race pace of Ekiden, which are road relays where each athlete covers a distance ranging from 15 kilometers to 22 kilometers. This study aimed to elucidate the impact of AFT on the records of Japanese Ekiden runners.

Antibacterial Dental Adhesive Containing Cetylpyridinium Chloride Montmorillonite.

Oral bacteria cause tooth caries and periodontal disease. Much research is being conducted to prevent both major oral diseases by rendering dental materials' antimicrobial potential. However, such antimicrobial materials are regarded as 'combination' products and face high hurdles for regulatory approval.

Long-Term Bonding Performance of One-Bottle vs. Two-Bottle Bonding Agents to Lithium Disilicate Ceramics.

The aim of this study was to compare the long-term bonding performance to lithium disilicate (LDS) ceramic between one-bottle and two-bottle bonding agents. Bonding performance was investigated under these LDS pretreatment conditions: with hydrofluoric acid (HF) only, without HF, with a two-bottle bonding agent (Tokuyama Universal Bond II) only. Shear bond strengths between LDS and nine resin cements (both self-adhesive and conventional adhesive types) were measured at three time periods: after one-day water storage (Base), and after 5000 and 20,000 thermocycles (TC 5k and TC 20k respectively).

Activation of Mitochondria in Mesenchymal Stem Cells by Mitochondrial Delivery of Coenzyme Q.

The efficacy of mesenchymal stem cell (MSC) transplantation has been reported for various diseases. We previously developed a drug delivery system targeting mitochondria (MITO-Porter) by using a microfluidic device to encapsulate Coenzyme Q (CoQ) on a large scale. The current study aimed to confirm if treatment with CoQ encapsulated by MITO-Porter enhanced mitochondrial functions in MSCs, with the potential to improve MSC transplantation therapy.

Monetary reward enhances response inhibition processes manifested in No-go P3.

This study investigated the impact of motivational valence on No-go P3 and N2 by incorporating monetary rewards based on response outcomes. We also investigated how personality differences in terms of the behavioral inhibition system (BIS) and behavioral approach system (BAS) influenced No-go N2 and No-go P3. Twenty-eight participants performed Go/No-go tasks (80 % Go and 20 % No-go) under two conditions.

Use of a long-term continuous glucose monitor for predicting sulfonylurea dose in patients with neonatal diabetes mellitus: a case series.

Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes that presents with uncontrolled hyperglycemia during the first 6 months of life. NDM is a rare disease in which gene variants mainly cause β-cell loss or dysfunction (6q24 duplication, , and ). Although NDM is primarily treated through insulin therapy, it is highly challenging to manage blood glucose levels using insulin therapy during infancy.

Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities.

Insufficient thyroid hormone production in newborns is referred to as congenital hypothyroidism. Multinodular goiter (MNG), characterized by an enlarged thyroid gland with multiple nodules, is usually seen in adults and is recognized as a separate disorder from congenital hypothyroidism. Here we performed a linkage analysis of a family with both nongoitrous congenital hypothyroidism and MNG and identified a signal at 15q26.

Moesin deficiency leads to lupus-like nephritis with accumulation of CXCL13-producing patrolling monocytes.

Moesin is a member of the ezrin-radixin-moesin (ERM) family of proteins that link plasma membrane proteins to the cortical cytoskeleton and thus regulate diverse cellular processes. Mutations in the human moesin gene cause a primary immunodeficiency called X-linked moesin-associated immunodeficiency (X-MAID), which may be complicated by an autoimmune phenotype with kidney involvement. We previously reported that moesin-deficient mice exhibit lymphopenia similar to that of X-MAID and develop a lupus-like autoimmune phenotype with age.

Challenges in the management of Turner syndrome with Y chromosome material: a case report of prophylactic gonadectomy revealing dysgerminoma.

Turner syndrome (TS) patients with Y chromosome material face an increased risk of gonadal germ cell tumors (GCTs). This case report discusses the challenges in decision-making regarding prophylactic gonadectomy, considering the risk of malignancy and the desire to preserve fertility. We report a case of a 12-year-old female with mosaic TS and Y chromosome material who initially presented with short stature and obesity.

Allogeneic Hematopoietic Cell Transplantation Ameliorated Asymptomatic Granulomatous and Lymphocytic Interstitial Lung Disease in a Patient With XIAP Deficiency.

X-linked inhibitor of apoptosis protein (XIAP) deficiency is an inborn error of immunity (IEI). Allogeneic hematopoietic cell transplantation (HCT) is currently the only curative therapy available for XIAP deficiency. Granulomatous and lymphocytic interstitial lung disease (GLILD) is a common immune-related lung complication of IEIs.

Successful treatment of frequent premature ventricular contractions and non-sustained ventricular tachycardia with verapamil and flecainide in -related myopathy: a case report.

Background: Ryanodine receptor 1 ()-related myopathies are a group of congenital muscle diseases caused by mutations. These mutations may cause centronuclear myopathy, a congenital neuromuscular disorder characterized by clinical muscle weakness and pathological presence of centrally placed nuclei on muscle biopsy. Mutations in cause ventricular arrhythmias that can be treated with flecainide; however, reports of ventricular arrhythmias in -related myopathies are rare.

Characteristics of water jump for better performance in collegiate male 3000 m steeplechase.

Background: The 3000 m steeplechase consists of 28 barriers and seven water-jumping obstacles. The water jump in the 3000 m steeplechase makes it different from the sprint hurdle events. It is important for coaches and athletes to understand how to clear the water jump successfully.

A Noonan-like pediatric patient with a de novo CBL pathogenic variant and an RNF213 polymorphism p.R4810K presenting with cardiopulmonary arrest due to left main coronary artery ostial atresia.

Left main coronary artery ostial atresia (LMCAOA) is an extremely rare condition. Here, we report the case of a 14-year-old boy with Noonan syndrome-like disorder in whom LMCAOA was detected following cardiopulmonary arrest. The patient had been diagnosed with Noonan syndrome-like disorder with a pathogenic splice site variant of CBL c.

Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report.

Background: Heterozygous loss-of-function mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene cause CHARGE syndrome characterized by various congenital anomalies. A majority of patients with CHARGE syndrome present with congenital hypogonadotropic hypogonadism (HH), and combined pituitary hormone deficiency (CPHD) can also be present. Whereas CHD7 mutations have been identified in some patients with isolated HH without a diagnosis of CHARGE syndrome, it remains unclear whether CHD7 mutations can be identified in patients with CPHD who do not fulfill the criteria for CHARGE syndrome.

Association between treatment for retinopathy of prematurity and blood monocyte counts.

Purpose: To investigate blood monocyte counts as a risk factor for retinopathy of prematurity (ROP) treatment.

Design: Retrospective cohort study.

Methods: Infants who underwent ROP screening at Shiga University of Medical Science Hospital between January, 2011 and July, 2021 were included in this study.

Exogenous insulin antibody syndrome in a patient with diabetes secondary to total pancreatectomy.

Exogenous insulin can induce insulin antibodies that have a low affinity/high binding capacity. Similar to what is observed in insulin autoimmune syndrome, these insulin antibodies can cause fasting hypoglycemia and postprandial hyperglycemia, a phenomenon known as "exogenous insulin antibody syndrome" (EIAS). Cases of EIAS in patients with type 1 and type 2 diabetes have been sporadically reported, mainly in Asia.

Shear Bond Strength of Resin Luting Materials to Lithium Disilicate Ceramic: Correlation between Flexural Strength and Modulus of Elasticity.

This study investigates the effect of the curing mode (dual-cure vs. self-cure) of resin cements (four self-adhesive and seven conventional cements) on their flexural strength and flexural modulus of elasticity, alongside their shear bond strength to lithium disilicate ceramics (LDS). The study aims to determine the relationship between the bond strength and LDS, and the flexural strength and flexural modulus of elasticity of resin cements.