Aurora-A Promotes Cell-Cycle Progression From Quiescence Through Primary Cilia Disassembly.

Aurora-A (AurA) is a member of the mitotic kinase family and is highly expressed in various tumors. Inhibition of AurA generally leads to fetal mitotic errors. We previously reported that AurA inhibition induces G/G cell cycle arrest in noncancerous cells by promoting the reassembly of primary cilia.

Natural history of timed rise from floor in young individuals with Duchenne muscular dystrophy: A single-center retrospective study.

Introduction: Motor function in patients with Duchenne muscular dystrophy (DMD) is commonly evaluated using the 6-min walk test, North Star Ambulatory Assessment, and timed function tests. However, few reports have examined the progression of timed rise from floor (TRF) in patients with DMD undergoing steroid therapy in Japan. We investigated the natural history of TRF in patients with DMD treated in Japan.

Pharmacologic inhibition of BMI1 exerts antitumor effects against MYCN-amplified neuroblastoma, with activation of the p53 pathway.

BMI1, a constituent of polycomb repressive complex 1, is overexpressed in a variety of cancers, including neuroblastoma, highlighting its potential as a target for cancer therapeutics. Given the pivotal role of BMI1, a number of inhibitors have been synthesized and assessed for therapeutic efficacy across a spectrum of cancers. In our present study, the BMI1 inhibitors PTC-028 and PTC-209 exhibited selective antitumor activity against MYCN-amplified neuroblastoma.

Impact of graft-versus-host disease on outcomes of cord blood transplantation according to HLA disparity and its prophylaxis type.

This study evaluated the impact of acute graft-versus-host disease (aGVHD) on cord blood transplantation (CBT) outcomes based on human leukocyte antigen (HLA) disparity and GVHD prophylaxis type. Data from 4,196 adult patients with acute myeloid leukemia, acute lymphoblastic leukemia, or myelodysplastic syndrome were analyzed. Patients were classified by HLA mismatch (8/8-6/8, 5/8, and 4/8-2/8) and further by GVHD prophylaxis type (methotrexate [MTX] or mycophenolate mofetil [MMF]).

Case report: Severe arrhythmogenic cardiomyopathy in a young girl with compound heterozygous and variants with a 6-year follow-up.

Introduction: Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disorder characterized by progressive fibrofatty replacement of the myocardium. In the Japanese population, variants of the desmoglein-2 () gene are a major cause of ACM, typically following an autosomal recessive inheritance pattern. Myosin-binding protein C () variants are primarily associated with hypertrophic cardiomyopathy (HCM).

Deep learning-based analysis of 12-lead electrocardiograms in school-age children: a proof of concept study.

Introduction: The diagnostic performance of automated analysis of electrocardiograms for screening children with pediatric heart diseases at risk of sudden cardiac death is unknown. In this study, we aimed to develop and validate a deep learning-based model for automated analysis of ECGs in children.

Methods: Wave data of 12-lead electrocardiograms were transformed into a tensor sizing 2 × 12 × 400 using signal processing methods.

Donor selection in T-cell-replete haploidentical donor peripheral blood stem cell transplantation.

The effects of donor characteristics on outcomes after T-cell-replete (TCR) haploidentical donor peripheral blood stem cell transplantation (PBSCT) with post-transplant cyclophosphamide (PTCy) or low-dose antithymocyte globulin (ATG) remain unclear. We evaluated the impact in 1,677 patients who received a PTCy protocol (PTCy-haplo; n = 1,107) or low-dose ATG protocol (ATG-haplo; n = 570). A low CD34 cell dose (<4 ×10/kg) was the only donor characteristic associated with worse overall survival (OS) after PTCy-haplo (adjusted hazard ratios [aHR] = 1.

Secondary neoplasms in survivors of pediatric acute lymphoblastic leukemia and lymphoblastic lymphoma: a single-center, retrospective study.

Background: Acute lymphoblastic leukemia (ALL)-based therapeutic regimens have markedly improved the survival of children with ALL and lymphoblastic lymphoma (LBL). However, survivors are at risk of secondary neoplasms. Few studies on such secondary neoplasms have been conducted outside of Europe and the United States.

Inotuzumab ozogamicin for relapse prevention in a boy with Down syndrome and relapsed acute lymphoblastic leukemia.

Inotuzumab ozogamicin (InO), a CD22-directed antibody conjugated to calicheamicin, has demonstrated excellent efficacy in B-cell precursor (BCP) acute lymphoblastic leukemia (ALL). It has been used for patients with relapsed or refractory BCP-ALL as a bridge to allo-HCT. Children with Down syndrome (DS) have an increased risk of BCP-ALL and higher rates of relapse and toxicity, including treatment-related mortality.

Hybrid treat-and-repair strategy for large patent ductus arteriosus: a proof-of-concept case report.

Background: In cases of atrial septal defect with pulmonary arterial hypertension (PAH), a treat-and-repair strategy that adopts pulmonary vasodilator therapy and subsequent defect closure is postulated to be effective. However, this strategy has not been applied to the large patent ductus arteriosus (PDA) with PAH.

Case Summary: A 10-year-old girl with trisomy 21 was referred to our hospital for the treatment of a large PDA with PAH.

Case Report: -related disease caused by Ala44Pro mutation in a child with a previous diagnosis of chronic immune thrombocytopenia.

-related disease, a rare autosomal dominant platelet disorder characterized by thrombocytopenia, giant platelets, and leukocyte inclusion bodies, may mimic immune thrombocytopenia in children unless suspected and carefully excluded. Here, we present a case involving a three-year-old girl with mild bleeding symptoms since infancy, previously diagnosed with chronic immune thrombocytopenia. The patient exhibited isolated thrombocytopenia and lacked any family history of thrombocytopenia, hearing impairment, or renal failure.

Promoter methylation levels of microRNA-124 in non-neoplastic rectal mucosa as a potential biomarker for ulcerative colitis-associated colorectal cancer in pediatric-onset patients.

Purpose: To determine the methylation level of the miR-124 promoter in non-neoplastic rectal mucosa of patients with pediatric-onset ulcerative colitis (UC) to predict UC-associated colorectal cancer (UC-CRC).

Methods: Between 2005 and 2017, non-neoplastic rectal tissue specimens were collected from 86 patients with UC, including 13 patients with UC-CRC; cancer tissues were obtained from the latter group. The methylation status of the miR-124 promoter was quantified using bisulfite pyrosequencing and compared between pediatric- and adult-onset UC patients.

Challenges to Widespread Use of Fertility Preservation Facilities for Pediatric Cancer Patients in Japan.

Although fertility preservation for pediatric cancer patients is becoming more widespread in Japan, some facilities do not provide sufficient information regarding fertility. This study aimed to elucidate the problems pertaining to the lack of information about fertility among patients. Based on a 2020 survey, seminars addressing fertility preservation were held from the Designated Pediatric Cancer Care Hospitals in each of the seven blocks in Japan to their partner hospital (pediatric cancer hospitals).

Case report: Thyroid storm in a three-year-old girl presenting with febrile status epilepticus and hypoglycemia.

Thyroid storm, though extremely rare in toddlers, requires prompt diagnosis and treatment because it can be fatal if left untreated. However, thyroid storm is not often considered in the differential diagnosis of a febrile convulsion due to its rarity in children. Herein, we report the case of a 3-year-old girl with thyroid storm who presented with febrile status epilepticus.

Fetal Biometric Assessment and Infant Developmental Prognosis of the Tadalafil Treatment for Fetal Growth Restriction.

Tadalafil is expected to treat fetal growth restriction (FGR), a risk factor for stillbirth and neonatal morbidity. This study aimed to evaluate the fetal biometric growth pattern of fetuses with FGR treated with tadalafil by ultrasonographic assessment. Materials and : This was a retrospective study.

Intrarenal renin-angiotensin system activation and macrophage infiltrations in pediatric chronic glomerulonephritis.

Background: The current study tested the hypothesis that urinary angiotensinogen (UAGT) and urinary monocyte chemoattractant protein-1 (UMCP-1) levels provide a specific index of intrarenal renin-angiotensin system (RAS) status and the degree of infiltration of macrophages associated with RAS blockade and immunosuppressant treatment in pediatric patients with chronic glomerulonephritis.

Methods: We measured baseline UAGT and UMCP-1 levels to examine the correlation between glomerular injury in 48 pediatric chronic glomerulonephritis patients before treatment. Furthermore, we performed immunohistochemical analysis of angiotensinogen (AGT) and CD68 in 27 pediatric chronic glomerulonephritis patients treated with RAS blockades and immunosuppressants for 2 years.