Fetal and neonatal cardiac tumor diagnosed as Tuberous Sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected in gene: A case report.

Fetal cardiac tumors are often the first clinical manifestation of tuberous sclerosis (TS) when fetal ultrasound screening is performed. TS is an autosomal dominant disorder caused by the mutations in or genes. Here we report a case of a patient with a fetal and neonatal cardiac tumor who underwent a genetic analysis for TS after birth.

Assessing the risk factors for surgical site infections after anal reconstruction surgery in patients with anorectal malformations: a retrospective analysis.

Purpose: This study aimed to identify surgical site infection (SSI) risk factors after anal reconstruction surgery in patients with anorectal malformations (ARMs).

Methods: This retrospective analysis from January 2013 to December 2022, including all pediatric surgical facilities in Hokkaido, Japan, examined consecutive patients with ARMs, excluding cloacal cases, regarding perioperative and SSI factors during their initial anal reconstruction surgeries.

Results: This study involved 157 cases of major clinical groups and 7 cases of rare/regional variants, among whom 4% developed SSIs.

FLT3 inhibitors and hematopoietic cell transplantation prolong survival in patients with FLT3-ITD-positive AML.

Acute myeloid leukemia (AML) is an aggressive hematological malignancy with genetic alterations. The FMS-like tyrosine kinase 3 (FLT3) gene is frequently mutated in adult de novo AML, with two types of mutations: internal tandem duplication (ITD) and point mutations in the tyrosine kinase domain. This study aimed to investigate the impact of FLT3 inhibitors and hematopoietic cell transplantation (HCT) on survival outcomes in patients with FLT3-ITD AML in a real-world setting.

Reliability and utility of blood glucose levels in the periodontal pockets of patients with type 2 diabetes mellitus: a cross-sectional study.

Background: Several studies have measured gingival blood glucose (GBG) levels, but few have confirmed systematic bias using Bland-Altman analysis. This study compared the effectiveness of GBG levels with that of fingertip blood glucose (FTBG) levels using Bland-Altman and receiver operating characteristic (ROC) analyses.

Methods: A total of 15 healthy volunteers and 15 patients with type 2 diabetes were selected according to inclusion and exclusion criteria.

Event-free survival at 36 months is a suitable endpoint for diffuse large B-cell lymphoma patients treated with immunochemotherapy: real-world evidence from the North Japan Hematology Study Group.

Information regarding follow-up duration after treatment for newly diagnosed diffuse large B-cell lymphoma (DLBCL) is important. However, a clear endpoint has yet to be established. We enrolled a total of 2,182 patients newly diagnosed with DLBCL between 2008 and 2018.

A Japanese school urine screening program led to the diagnosis of -MODY: A case report.

Although mutation is the main cause of neonatal diabetes mellitus, reports of maturity-onset diabetes in the young (MODY) related to are rare. Here, we report a case of -MODY in a 12-yr-old Japanese female. Hyperglycemia was initially detected during a school urine screening program.

IgG4-Related Pericarditis Diagnosed by Accumulated Pericardial Effusion.

IgG4-related pericarditis has rarely been reported. Here, we report a case of IgG4-related disease that presented with pericardial effusion. A 67-year-old female who presented with palpitations and chest pain was admitted because of a large amount of pericardial effusion that required drainage.

Optimal Surgical Method and Timing for Low-birth-weight Esophageal Atresia Babies: Multi-institutional Observational Study.

Aim Of The Study: Previous research has shown that low birth weight is one of the risk factors for esophageal atresia. However, there remains a paucity of evidence on the timing and the treatment method.

Method: Data were collected using a multi-institutional observational study in 11 hospitals that performed surgeries on esophageal atresia babies whose birth weights were ≤1500 g from 2001 to 2020.

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.

Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption.

When a de novo balanced reciprocal translocation is identified in the patient, the cause of phenotype of the patient can be explained by detecting the breakpoints of the genes. Here, we report a 3-year-old patient with developmental delay, autism spectrum disorder, and distinctive facial features who had an apparently balanced translocation between chromosome 3q26 and chromosome 7q36. Nanopore long-read sequencing revealed that balanced translocation disrupted the KMT2C gene, the haploinsufficiency of which leads to Kleefstra syndrome 2 characterized by delayed psychomotor development, variable intellectual disability and mild dysmorphism.

Impact of muscle loss in children with hematologic malignancies undergoing allogeneic hematopoietic cell transplantation.

The widespread recognition of the concept of sarcopenia, or muscle loss, has impacted the prognosis of patients undergoing high-intensity treatments. We focused on the effect of muscle loss on the prognosis of pediatric patients with hematologic diseases. A total of 65 patients with hematologic malignancies who underwent allogeneic HCT once were investigated.

Laboratory Test Predictors for Major Bleeding in Elderly (≥80 Years) Patients With Nonvalvular Atrial Fibrillation Treated With Edoxaban 15 mg: Sub-Analysis of the ELDERCARE-AF Trial.

Background We investigated the predictors related to major bleeding events during treatment with edoxaban 15 mg in patients aged ≥80 years with nonvalvular atrial fibrillation and high bleeding risk, for whom standard oral anticoagulants are inappropriate, focusing on standard laboratory tests related to bleeding. Methods and Results This was a prespecified subanalysis of the on-treatment analysis set of the ELDERCARE-AF (Edoxaban Low-Dose for Elder Care Atrial Fibrillation Patients) trial. Major bleeding was the primary safety end point.

Positive Pattern Recognition System Using Alanine Aminotransferase, Type IV Collagen 7s, and E Value (Liver Stiffness) for the Diagnosis of Nonalcoholic Steatohepatitis Based on Natural History.

Introduction: The use of a simple diagnostic system for nonalcoholic fatty liver disease (NAFLD) instead of a biopsy is expected. We investigated a positive pattern recognition system for the evaluation of nonalcoholic fatty liver (NAFL) and the stages of nonalcoholic steatohepatitis (NASH).

Methods: A total of 68 Japanese patients with biopsy-confirmed NAFLD were enrolled.

Transumbilical Repair for Umbilical Hernia: A New Technique.

Although there are many reports on surgical repair for umbilical hernia, there is no standard procedure at present. Since 2012, we have performed surgery with transumbilical repair using an original procedure. With this procedure, a longitudinal incision is made in the umbilicus, and the fascial defect is closed.

Case Report: Durvalumab-Associated Encephalitis in Extensive-Stage Small Cell Lung Carcinoma.

In recent years, the clinical importance of immunotherapy has been demonstrated in the treatment of extensive-stage small-cell lung cancer (ES-SCLC). However, immune checkpoint inhibitors (ICIs) have been shown to cause immune-related adverse events (irAEs), including autoimmune encephalitis. Here, we describe th treatment of a patient with ES-SCLC who developed immune-related encephalitis.

Association of the Low-density Lipoprotein Cholesterol/High-density Lipoprotein Cholesterol Ratio with Glecaprevir-pibrentasvir Treatment.

Objective The change in serum lipid levels by direct-acting antiviral (DAA) treatment for chronic hepatitis C varies depending on the type of DAA. How the lipid level changes induced by glecaprevir-pibrentasvir (G/P) treatment contribute to the clinical outcome remains unclear. We conducted a prospective observational study to evaluate the effectiveness of G/P treatment and the lipid level changes.

Attenuation imaging as a new ultrasonographic application for identifying placental haematoma.

We present a case in which attenuation imaging (ATI), a recently developed ultrasonographic application, facilitated the diagnosis of preplacental and postplacental haematoma. Placental abruption is a serious condition that affects the prognosis of infants and is difficult to diagnose. Ultrasonography is the primary imaging modality that complements the clinical findings in the diagnosis; however, its sensitivity is low, and improved diagnostic accuracy is desired.

Reliability of measurement using Image J for reach distance and movement angles in the functional reach test.

[Purpose] The purpose of this study was to examine the test-retest reliability and minimal detectable change (MDC) of reach distance and movement angle analyses using Image J. [Participants and Methods] Thirty-eight healthy young males performed the functional reach test (FRT) twice, and their reach movements were recorded using a digital video camera. Image J was used to combine the digital photographs taken at the start position and maximum reach and to measure each movement.

Benzodiazepine Concentrations in the Breast Milk and Plasma of Nursing Mothers: Estimation of Relative Infant Dose.

Benzodiazepines are common therapies for mental illness and insomnia, and are used during pregnancy and lactation. Although benzodiazepines have been shown to be transferred into breast milk, the amount transferred is small and compatible with breastfeeding. However, information is not available for all drugs.

[Primary diffuse large B-cell lymphoma of the breast in a male patient with Sjögren's syndrome].

When a 74-year-old male patient visited our hospital for the treatment of herpes zoster, his computed tomography (CT) revealed a mass in his right breast, axillary lymph node enlargement, and multiple lung nodules. A histological examination of the breast and lymph node biopsies revealed diffuse large B-cell lymphoma (DLBCL) while the bronchial and salivary gland biopsies showed secondary amyloidosis and Sjögren's syndrome (SjS). According to the Ann Arbor staging, the clinical stage of the lymphoma was evaluated as IIE.