Management of coexisting patent foramen ovale and pulmonary arteriovenous malformation: a case report of sequential closure.

Background: Concurrent patent foramen ovale (PFO) and pulmonary arteriovenous malformation (PAVM) are rare but can cause paradoxical embolism and platypnoea-orthodeoxia syndrome (POS).

Case Summary: A 72-year-old female with embolic stroke history developed positional dyspnoea. Evaluation revealed right-to-left shunting through PFO and PAVM in the right middle lobe.

Impact of the severe acute respiratory syndrome coronavirus 2 pandemic on the incidence of type 1 diabetes mellitus in children in Yamanashi, Japan.

It has been hypothesized that the biopsychosocial stress associated with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic, in combination with the immunological effects of SARS-CoV-2 and pancreatic β-cell dysfunction, may contribute to the onset of type 1 diabetes (T1D) in children. In this study, we documented the incidences of T1D in Yamanashi Prefecture, Japan, from 1986 to 2018, and expanded the analysis to include cases from 2019 to 2022 to evaluate the potential influence of coronavirus disease 2019 (COVID-19) on T1D incidence. The COVID-19 pandemic period was defined as 2020 to 2022.

3 Leadless Pacemaker Implantations in an 81-Year-Old Woman With a History of Transvenous Pacemaker Infection.

Leadless pacemakers (LPMs) offer an alternative for patients with challenging venous access or device infection history. Management of LPM battery depletion in frail patients presents unique challenges. We present the case of an 81-year-old frail woman with obstructive hypertrophic cardiomyopathy and complete heart block, previously treated with percutaneous transseptal myocardial ablation and a transvenous pacemaker, who received an LPM after device extraction for infection.

Long-Term Efficacy of Mitral Valve Transcatheter Edge-to-Edge Repair (M-TEER) for Exercise-Induced Mitral Regurgitation in a Cardiac Resynchronization Therapy (CRT) Non-responder: A Three-Year Follow-Up.

Mitral valve transcatheter edge-to-edge repair (M-TEER), a minimally invasive procedure that uses a clip to join the mitral valve leaflets, has emerged as an established treatment for severe mitral regurgitation (MR) in drug-refractory heart failure (HF). This case report presents an 80-year-old cardiac resynchronization therapy (CRT) non-responder with a complex cardiac history who underwent successful M-TEER. Despite optimal therapy, including CRT, she experienced recurrent HF symptoms.

Long-Term Survey of Japanese Children with Recurrent Nephroblastoma: A Report from Japan Children's Cancer Group.

In prospective Japanese studies of pediatric renal tumors, 5-year event-free survival and overall survival (OS) for patients with nephroblastoma ranges from 75-90% and 89-97%, respectively. However, treatments strategies for recurrent nephroblastoma in Japanese patients remain unclear. This retrospective study aimed to inform the development of treatment strategies by analyzing the long-term results and side effects of salvage therapies for recurrent nephroblastoma in Japan.

Comprehensive study on central precocious puberty: molecular and clinical analyses in 90 patients.

Context: Defects in MKRN3, DLK1, KISS1, and KISS1R and some disorders, such as Temple syndrome (TS14), cause central precocious puberty (CPP). Recently, pathogenic variants (PVs) in MECP2 have been reported to be associated with CPP.

Objective: We aimed to clarify the contribution of (epi)genetic abnormalities to CPP and clinical and hormonal features in each etiology.

Coinheritance of HNF1A and glucokinase variants in maturity-onset diabetes of the young.

Summary: Maturity-onset diabetes of the young (MODY) is a group of monogenic forms of diabetes mellitus characterized by early-onset diabetes with dominant inheritance of beta-cell dysfunction. There are few reports of the coinheritance of glucokinase (GCK) and hepatocyte nuclear factor 1 alpha gene (HNF1A) variants underlying MODY in patients. Herein, we describe a case involving combinations of monoallelic GCK and HNF1A variants associated with MODY.

Clonal Hematopoiesis Without Malignant Transformation Lasting Over 2 Years in a 9-Year-old Boy, Following Treatment for Acute Lymphocytic Leukemia.

Children with acute lymphocytic leukemia rarely develop secondary hematological neoplasms. A 5-year-old boy was diagnosed with standard-risk precursor B-cell acute lymphocytic leukemia. The patient exhibited aberrant chromosomal changes in the bone marrow at 6 months postchemotherapy: 46,XY,der(6) t(1;6)(q12;p22) dup(6)(p22p12)[15].

Malignant melanoma in a 12-year-old boy 17 months after completing hepatoblastoma treatment.

Background: Melanoma is rare as a secondary malignant neoplasm among childhood cancer survivors.

Case: We report a case of a 12-year-old boy who developed malignant melanoma with systemic metastases 17 months after completing treatment for hepatoblastoma. The diagnosis was made unexpectedly based on a bone marrow examination.

Eculizumab treatment in paediatric patients diagnosed with aHUS after haematopoietic stem cell transplantation: a HSCT-TMA case series from Japanese aHUS post-marketing surveillance.

Haematopoietic stem-cell transplantation (HSCT)-associated thrombotic microangiopathy (HSCT-TMA) is a serious complication with high mortality. Accumulating evidence suggests that complement dysregulation is potentially involved in the development of HSCT-TMA. We retrospectively analysed the clinical characteristics and outcomes of thirteen paediatric patients who were diagnosed with atypical haemolytic uremic syndrome and treated with eculizumab to manage HSCT-TMA during post-marketing surveillance in Japan.

Six Years of Disease-free Survival After a Second Cord Blood Transplantation for Recurrent Acute Lymphocytic Leukemia in a Child With Down Syndrome.

Outcomes are extremely poor in Down syndrome-associated acute lymphocytic leukemia, particularly in recurrent cases. A 2-year-old boy with Down syndrome-associated acute lymphocytic leukemia achieved complete remission after standard chemotherapy. However, he experienced recurrence twice in the bone marrow and central nervous system.

Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency.

Tricho-rhino-phalangeal syndrome type I (TRPS1), caused by pathogenic variants in the transcriptional repressor GATA-binding 1 gene (TRPS1), is characterized by ectodermal and skeletal anomalies including short stature and sparse scalp hair during infancy. TRPS1 encodes a zinc finger protein transcription factor that contributes to bone homeostasis by regulating perichondral mineralization, chondrocyte proliferation, and apoptosis. Here, a male infant aged 14 months presented with sparse scalp hair, deformed nails, fused teeth, and postnatal growth retardation without neurodevelopmental disorder.

Psychological distress among early medical residents: A 2-year longitudinal cohort study over seven years in Japan.

Background: Early medical residents are expected to have a higher prevalence of burnout due to physical and psychological stressors. However psychological distress associated with burnout has not been adequately investigated in a longitudinal manner. We therefore examined the longitudinal trajectory of depression and its associated factors among early medical residents.

Eighteen-years follow-up of congenital hypothyroidism by gene p.Arg109Gln and p.Arg450His variants.

Congenital hypothyroidism (CH) is a common heterogeneous endocrine disorder. The thyroid-stimulating hormone receptor gene () is one of the major candidate genes associated with CH. Studies have investigated the possible correlations between the specific clinical features and the presence of variants.

Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndrome.

Craniofacial defects are one of the most frequent phenotypes in syndromic diseases. More than 30% of syndromic diseases are associated with craniofacial defects, which are important for the precise diagnosis of systemic diseases. Special AT-rich sequence-binding protein 2 (SATB2)-associated syndrome (SAS) is a rare syndromic disease associated with a wide variety of phenotypes, including intellectual disability and craniofacial defects.

Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2C.

Many disease-causing genes have been identified by determining the breakpoints of balanced chromosomal translocations. Recent progress in genomic analysis has accelerated the analysis of chromosomal translocation-breakpoints at the nucleotide level. Using a long-read whole-genome sequence, we analyzed the breakpoints of the cytogenetically balanced chromosomal translocation t(5;15)(q21;26.

Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis.

Hereditary stomatocytosis (HSt) is a type of congenital hemolytic anemia caused by abnormally increased cation permeability of erythrocyte membranes. Dehydrated HSt (DHSt) is the most common subtype of HSt and is diagnosed based on clinical and laboratory findings related to erythrocytes. PIEZO1 and KCNN4 have been recognized as causative genes, and many related variants have been reported.

Protective effect of ebselen on bleomycin-induced lung fibrosis: analysis of the molecular mechanism of lung fibrosis mediated by oxidized diacylglycerol.

The molecular mechanisms underlying the development of pulmonary fibrosis remain unknown, and effective treatments have not yet been developed. It has been shown that oxidative stress is involved in lung fibrosis. Oxidized diacylglycerol (DAG) produced by oxidative stress is thought to play an important role in lung fibrosis.