Three cases of hemoglobin M disease in a family lineage: Case report and literature review.

Rationale: This study presents a case of hemoglobin M disease (HMD), a rare inherited disorder characterized by persistent cyanosis and hypoxemia, observed across 3 generations within a single family. The diagnosis of HMD poses significant challenges, particularly in asymptomatic individuals, due to its rarity and the subtlety of its symptoms. Notably, there is a scarcity of reports on methemoglobinemia in pediatric populations, which further complicates early detection and intervention.

MicroRNA as a Potential Diagnostic and Prognostic Biomarker in Diffuse Large B-Cell Lymphoma: A Systematic Review and Meta-Analysis.

Background: Recently, microRNAs (miRNAs) have been applied as biomarkers for diffuse large B-cell lymphoma (DLBCL) patients. Early diagnosis and management of DLBCL can improve patient survival and prognosis.

Aims: This systematic review and meta-analysis aimed to evaluate the diagnostic and prognostic accuracy of miRNA biomarkers in DLBCL patients.

Cryo-EM structure and regulation of human NAD kinase.

Reduced nicotinamide adenine dinucleotide phosphate (NADPH) is a crucial reducing cofactor for reductive biosynthesis and protection from oxidative stress. To fulfill their heightened anabolic and reductive power demands, cancer cells must boost their NADPH production. Progrowth and mitogenic protein kinases promote the activity of cytosolic NAD kinase (NADK), which produces NADP, a limiting NADPH precursor.

ATM Expression and Activation in Ataxia Telangiectasia Patients with and without Class Switch Recombination Defects.

Background: Ataxia telangiectasia mutated (ATM) kinase plays a critical role in DNA double-strand break (DSB) repair. Ataxia telangiectasia (A-T) patients exhibit abnormalities in immunoglobulin isotype expression and class switch recombination (CSR). This study investigates the role of residual ATM kinase expression and activity in the severity of A-T disease.

Evaluation of Influenza Vaccine Effectiveness from 2021 to 2024: A Guangdong-Based Test-Negative Case-Control Study.

Background: The influenza virus's high mutation rate requires the annual reformulation and administration of the vaccine. Therefore, its vaccine effectiveness (VE) must be evaluated annually.

Aim: Estimate the effectiveness of the influenza vaccine and analyze the impact of age, seasonal variations, and the vaccination to sample collection interval on VE.

Characteristics of Pediatric Allergic Rhinitis With Different Disease Severity.

Although numerous studies have focused on diagnostic biomarkers to help identify allergic rhinitis (AR), data on the characteristics of pediatric AR with different severity is limited. We aimed to compare the characteristics of pediatric AR with different severity. A total of 1054 children with AR were enrolled and classified into mild intermittent AR, mild persistent AR, moderate-to-severe intermittent AR, and moderate-to-severe persistent AR.

The Incidence and Clinical Characteristics of COVID-19 in Children With IBD During the Omicron Wave: A Single-Center Experience in China.

The pandemic of coronavirus disease 2019 (COVID-19) had a major impact on the health of people worldwide, including the pediatric inflammatory bowel disease (PIBD) patients. As no study has investigated the susceptibility and disease course of COVID-19 in PIBD patients after the end of zero-COVID policy in China, we conducted a retrospective cross-sectional study in our center. A cross-sectional survey enrolling PIBD patients has been completed by online survey, phone, and face-to-face assessment.

Mitochondrial disease and epilepsy in children.

Mitochondria is the cell's powerhouse. Mitochondrial disease refers to a group of clinically heterogeneous disorders caused by dysfunction in the mitochondrial respiratory chain, often due to mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) that encodes mitochondrial proteins. This dysfunction can lead to a variety of clinical phenotypes, particularly affecting organs with high energy demands, such as the brain and muscles.

Single-cell RNA sequencing elucidates cellular plasticity in esophageal small cell carcinoma following chemotherapy treatment.

Small cell carcinoma of the esophagus (SCCE) is a rare and aggressively progressing malignancy that presents considerable clinical challenges.Although chemotherapy can effectively manage symptoms during the earlystages of SCCE, its long-term effectiveness is notably limited, with theunderlying mechanisms remaining largely undefined. In this study, weemployed single-cell RNA sequencing (scRNA-seq) to analyze SCCE samplesfrom a single patient both before and after chemotherapy treatment.

Differential diagnostic value of P wave dispersion and QT interval dispersion between psychogenic pseudosyncope and vasovagal syncope in children and adolescents.

Background: Both psychogenic pseudosyncope (PPS) and vasovagal syncope (VVS) in children and adolescents are diseases of transient loss of consciousness. It is difficult to distinguish them clinically. This paper will study the differential diagnostic value of P wave dispersion (Pd) and QT interval dispersion (QTd) between PPS and VVS.

Surgical treatment of anomalous aortic origin of the coronary artery in paediatric patients: a Chinese single-center experience.

Purpose: An anomalous aortic origin of the coronary artery (AAOCA) is a rare congenital heart disease. Some high-risk anatomical structures are at risk of inducing cardiogenic shock or even sudden death. This article summarizes our surgical experience with AAOCA in paediatric patients.

Prenatal Diagnosis of Congenital Heart Disease in Liveborn Infants in the New England Region.

Prenatal diagnosis of congenital heart disease requiring early cardiac catheterization or surgical intervention enables optimal delivery planning for appropriate postnatal cardiovascular intervention and care. This allows for improved morbidity and mortality. Prior national data reported prenatal diagnosis rates of 32% for congenital heart disease requiring intervention in infants in the first 6 months of life in the New England region.

[Comparison of effectiveness between two surgical methods for humeral lateral condyle fractures in children].

Objective: To compare the effectiveness of ultrasound-guided closed reduction with Kirschner wire fixation and open reduction with Kirschner wire fixation in the treatment of humeral lateral condyle fracture (HLCF) in children.

Methods: A clinical data of 53 children with HLCF admitted between May 2020 and April 2023 and met selective criteria was retrospectively analyzed. Of these, 25 cases were managed with closed reduction and Kirschner wire fixation under ultrasound guidance (closed group), while 28 cases underwent open reduction and Kirschner wire fixation (open group).

Precision Oncology: A Global Perspective on Implementation and Policy Development.

Despite the acknowledged merits of precision oncology (PO) and its increasing global implementation, its full potential for advancing care and prevention remains unrealized. The benefits are currently accessible to only limited patient segments because of multifaceted barriers. Successful implementation hinges on various factors-scientific complexities not limited to technical, clinical, regulatory, economic, administrative, and health care policy-related challenges.

Global Burden of Cardiovascular Diseases and its Risk Factors, 1990-2021: A Systematic Analysis for the Global Burden of Disease Study 2021.

Background: Cardiovascular diseases (CVD) represent a major global health challenge, necessitating up-to-date data on its burden for effective care planning and resource allocation. This study comprehensively analyzes the global, regional, and national CVD burden and associated risks from 1990 to 2021.

Methods And Results: We performed a secondary analysis of CVD burden and risk factors using the Global Burden of Disease (GBD) 2021 study.

Suggested Dosing of Select Beta-lactam Agents for the Treatment of Antimicrobial-Resistant Gram-Negative Infections in Children.

Background: The Infectious Diseases Society of America (IDSA) publishes annual guidance on the treatment of antimicrobial-resistant (AMR) gram-negative infections. Within the AMR guidance, suggested dosages of antibiotics for adults infected with AMR pathogens are provided. This document serves as a companion document to the IDSA guidance to assist pediatric specialists with dosing β-lactam agents for the treatment of AMR infections in children.

Dual T cell depleted haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide and anti-thymocyte globulin as a third salvage transplant for leukocyte adhesion deficiency with graft failure: a case report.

Background: With recent advances in clinical practice, including the use of reduced-toxicity conditioning regimens and innovative approaches such as ex vivo TCRαβ/CD19 depletion of haploidentical donor stem cells or post-transplant cyclophosphamide (PTCY), hematopoietic stem cell transplantation (HSCT) has emerged as a curative treatment option for a growing population of patients with inborn errors of immunity (IEI). However, despite these promising developments, graft failure (GF) remains a significant concern associated with HSCT in these patients. Although a second HSCT is the only established salvage therapy for patients who experience GF, there are no uniform, standardized strategies for performing these second transplants.

Oxycodone for analgesia in children undergoing endoscopic retrograde cholangiopancreatography: a randomized, double-blind, parallel study.

Background: Postoperative visceral pain is a common complication after endoscopic retrograde cholangiopancreatography (ERCP). In this study, we compared the analgesic and anti-inflammatory effects of oxycodone and fentanyl in children undergoing ERCP.

Methods: A single-center, randomized, double-blind study was conducted at a tertiary care hospital affiliated with Shanghai Jiao Tong University.

Achieving reliable patient reported outcomes collection to measure health care improvement in a learning health network: lessons from pediatric rheumatology care and outcomes improvement network.

Introduction: Data from the Pediatric Rheumatology Care and Outcomes Improvement Network (PR-COIN) registry suggests that reliable collection of patient-reported outcomes (PROs) varies across sites. The objective of this study was to better understand the practices of collecting PROs at PR-COIN sites.

Methods: A REDCap survey was sent to the lead representative for each PR-COIN site.

Interpretable machine learning-based prediction of 28-day mortality in ICU patients with sepsis: a multicenter retrospective study.

Background: Sepsis is a major cause of mortality in intensive care units (ICUs) and continues to pose a significant global health challenge, with sepsis-related deaths contributing substantially to the overall burden on healthcare systems worldwide. The primary objective was to construct and evaluate a machine learning (ML) model for forecasting 28-day all-cause mortality among ICU sepsis patients.

Methods: Data for the study was sourced from the eICU Collaborative Research Database (eICU-CRD) (version 2.

[Short-term efficacy of rituximab in children with calcineurin inhibitor resistant steroid resistant nephrotic syndrome].

To investigate the short-term efficacy and safety of rituximab (RTX) in children with calcineurin inhibitor (CNI) resistant steroid resistant nephrotic syndrome (SRNS). A retrospective case analysis was conducted. Thirteen children with CNI resistant SRNS who were regularly treated with RTX (375 mg/m per dose (maximum dose 500 mg), 1 dose per week, a total of 4 doses) in Department of Nephrology, Children's Hospital of Fudan University from January 2016 to December 2023 were enrolled.

[Analysis of 41 cases of myocardial infarction in children with coronary artery lesion after Kawasaki disease].

To analyze the clinical characteristics,diagnosis and treatment of pediatric myocardial infarction (MI) patients with coronary artery lesions (CAL) after Kawasaki disease (KD). Clinical data including baseline characteristics, KD and CAL information, clinical symptoms at MI onset, electrocardiogram (ECG) and imaging findings, MI treatment, and clinical outcomes of 41 MI patients with CAL after KD admitted to the Children's Hospital of Fudan University from January 2017 to August 2024 were analyzed retrospectively. (1) Demographic characteristics: a total of 41 patients were included (36 males and 5 females).

[Disease burden and clinical status of congenital heart disease combined with heart failure in China: a survey and analysis].

To investigate the disease burden, clinical characteristics and independent risk factors affecting in-hospital outcomes of children with congenital heart disease (CHD) combined with heart failure (HF) in China. (1) Descriptive study: based on the global burden of disease study 2021, available data on children under 15 years of age with CHD and HF in China from 1990 to 2021 were collected. The prevalence and trends in different age subgroups (<1 year, 1-<2 years, 2-<5 years, 5-<10 years, 10-<15 years) were analyzed, and the annual percentage change (EAPC) was estimated using linear regression.