Amplified EPOR/JAK2 Genes Define a Unique Subtype of Acute Erythroid Leukemia.

Unlabelled: Acute erythroid leukemia (AEL) is a unique subtype of acute myeloid leukemia characterized by prominent erythroid proliferation whose molecular basis is poorly understood. To elucidate the underlying mechanism of erythroid proliferation, we analyzed 121 AEL using whole-genome, whole-exome, and/or targeted-capture sequencing, together with transcriptome analysis of 21 AEL samples. Combining publicly available sequencing data, we found a high frequency of gains and amplifications involving EPOR/JAK2 in TP53-mutated cases, particularly those having >80% erythroblasts designated as pure erythroid leukemia (10/13).

Different failure rates of insertion of 10/12-Fr ureteral access sheaths during retrograde intrarenal surgery in patients with and without stones.

Purpose: The aim of this study was to compare the failure rates of insertion of a 10/12-Fr ureteral access sheath (UAS) during retrograde intrarenal surgery (RIRS) in cases with and without stones and to analyze the risk factors for UAS insertion failure.

Materials And Methods: A total of 640 RIRS cases (538 with and 102 without stones) were evaluated. The primary outcome of interest was the failure rate of insertion of a 10/12-Fr UAS.

NPM1-mutation-based measurable residual disease assessment after completion of two courses of post-remission therapy is a valuable clinical predictor of the prognosis of acute myeloid leukemia.

Recent studies have reported that measurable residual disease (MRD) analysis using NPM1 mutations helps determine whether allogeneic hematopoietic stem cell transplantation (allo-HSCT) is indicated in acute myeloid leukemia (AML) patients. However, the optimal timing and cutoff value for measuring MRD using genomic DNA remain undetermined. This study aimed to investigate the optimal timing and cutoff value to ascertain the value of NPM1 mutation in MRD assessment.

Isolated Nocturnal Hypertension in Children.

Isolated nocturnal hypertension (INH) is attracting attention because it has been shown to correlate with target organ damage as well as cardiovascular events in adults. INH has also been reported in children especially in those with underlying diseases including chronic kidney disease and some studies reported association with markers of early target organ damage. INH occupies the majority of nocturnal hypertension.

Cost-effectiveness analysis of sedation and general anesthesia regimens for children undergoing magnetic resonance imaging in Japan.

Purpose: The anesthesiologist-directed sedation service has not been well established in Japan partly due to reimbursement issue. In this study, we compared the cost-effectiveness of sedation by non-anesthesiologists with that of sedation or general anesthesia by anesthesiologists under the Japanese medical fee schedule.

Methods: We conducted a single-center observational study with patients who required sedation or general anesthesia for magnetic resonance imaging (MRI) during a 12-month period.

Risk factors and predictive model for incidence of difficult ureter during retrograde ureteroscopic lithotripsy.

Objective: Difficult ureter can be a challenge for accessing upper urinary tract during lithotripsy. In this study, we evaluated the risk factors for the incidence of difficult ureter in retrograde ureteroscopic lithotripsy. Moreover, we aimed to develop a predictive model for the incidence of difficult ureter.

Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations.

Objective: To delineate the diagnostic efficacy of medical exome, whole exome, and whole genome sequencing according to primary symptoms, the contribution of small copy number variations, and the impact of molecular diagnosis on clinical management.

Study Design: This was a prospective study of 17 tertiary care centers in Japan, conducted between April 2019 and March 2021. Critically ill neonates and infants less than 6 months of age were recruited in neonatal intensive care units and in outpatient clinics.

Prevalence estimates of Helicobacter species infection in pancreatic and biliary tract cancers.

Background: Helicobacter pylori infection is a well-established risk factor for gastric cancer and has been linked to other gastrointestinal diseases, including pancreatic and biliary tract cancers; however, the relevance of enterohepatic non-H. pylori helicobacters to the pathophysiology of these diseases remains unclear.

Materials And Methods: We estimated the prevalence of two enterohepatic non-H.

Prognostic Accuracy of the qSOFA Score for In-Hospital Mortality in Elderly Patients with Obstructive Acute Pyelonephritis: A Multi-Institutional Study.

Prognostic accuracy of the quick sequential organ failure assessment (qSOFA) score for mortality may be limited in elderly patients. Using our multi-institutional database, we classified obstructive acute pyelonephritis (OAPN) patients into young and elderly groups, and evaluated predictive performance of the qSOFA score for in-hospital mortality. qSOFA score ≥ 2 was an independent predictor for in-hospital mortality, as was higher age, and Charlson comorbidity index (CCI) ≥ 2.

Deep neural network for video colonoscopy of ulcerative colitis: a cross-sectional study.

Background: A combination of endoscopic and histological evaluation is important in the management of patients with ulcerative colitis. We aimed to adapt our previous deep neural network system (deep neural ulcerative colitis [DNUC]) to full video colonoscopy and evaluate its validity in the real-time detection of histological mucosal inflammation.

Methods: In this multicentre, cross-sectional study, we prospectively enrolled consecutive patients (≥15 years) with ulcerative colitis who had an indication for colonoscopy at five hospitals in Japan.

Structural and functional changes in the kidney caused by adverse fetal and neonatal environments.

Health and disease risk in the adulthood are known to be affected by the early developmental environment. Kidney diseases are one of these diseases, and kidneys are altered both structurally and functionally by adverse pre- and perinatal events. The most known structural change is low nephron number seen in subjects born low birth weight and/or preterm.

A Case of Mandibular Cancer Involving Almost Entire Attached Gingiva.

Here we describe a rare case of mandibular cancer involving almost the entire attached gingiva in a 71-year-old man. First, marginal resection of the entire mandible was performed, followed by one-stage reconstruction comprising application of a split-thickness skin graft onto the wound. This resulted in good alveolar ridge morphology, allowing for a mandibular prosthesis to be installed soon postoperatively.

Variables measured on three-dimensional computed tomography are preferred for predicting the outcomes of shock wave lithotripsy.

Purpose: Shock wave lithotripsy (SWL) is used to treat upper urinary tract stones. Recently, some volume analyzers have enabled preoperative assessment using three-dimensional computed tomography (3D-CT). We evaluated the efficacy of 3D-CT variables for predicting the outcomes of SWL.

Efficacy and safety of Wilms' tumor 1 helper peptide OCV-501 in elderly patients with acute myeloid leukemia: a multicenter, randomized, double-blind, placebo-controlled phase 2 trial.

Purpose: Complete remission (CR) of acute myeloid leukemia (AML) in elderly patients has a short duration, and there is no suitable post-remission therapy. We explored the role of the Wilms' tumor 1 helper peptide OCV-501 to prevent recurrence after remission.

Methods: This placebo-controlled phase 2 study was designed to evaluate accurately the efficacy and immunogenicity of OCV-501 in elderly AML patients.

Live attenuated vaccine efficacy six months after intravenous immunoglobulin therapy for Kawasaki disease.

Background: Due to the presence of maternal passive antibodies, the measles vaccine is ineffective if administered before age 12-15 months. The optimal timing for administering a live attenuated vaccine (LAV) after intravenous immunoglobulin therapy (IVIG) for Kawasaki disease (KD) has not been fully investigated. The recommended interval between vaccination and IVIG therapy for KD differs by country.

Prognostic impact of CEBPA bZIP domain mutation in acute myeloid leukemia.

Mutations of CCAAT/enhancer-binding protein alpha (CEBPAmu) are found in 10% to 15% of de novo acute myeloid leukemia (AML) cases. Double-mutated CEBPA (CEBPAdm) is associated with a favorable prognosis; however, single-mutated CEBPA (CEBPAsm) does not seem to improve prognosis. We investigated CEBPAmu for prognosis in 1028 patients with AML, registered in the Multi-center Collaborative Program for Gene Sequencing of Japanese AML.

Incidence and risk factors of acute encephalopathy with biphasic seizures in febrile status epilepticus.

Objective: To clarify the incidence and risk factors of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) in pediatric patients with febrile status epilepticus (FSE).

Methods: We retrospectively surveyed patients with FSE (≥20 min and ≥40 min) who were younger than 6 years by mailing a questionnaire to 1123 hospitals in Japan. The survey period was 2 years.