Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.

Background: Familial hypercholesterolemia (FH) is an inherited disorder mainly marked by increased low-density lipoprotein cholesterol (LDL-C) concentrations and a heightened risk of early-onset arteriosclerotic cardiovascular disease (ASCVD). This study seeks to characterize the genetic spectrum and genotype‒phenotype correlations of FH in Chinese pediatric individuals.

Methods: Data were gathered from individuals diagnosed with FH either clinically or genetically at multiple hospitals across mainland China from January 2016 to June 2024.

Assessing the prevalence of human enteric viruses in hospital wastewater to evaluate the effectiveness of wastewater treatment systems.

In this experiment, we employed Real-time PCR(RT-PCR) and metagenomic Next-Generation Sequencing (mNGS) techniques to detect the presence of Norovirus, Rotavirus Group A, Adenovirus Group F, and Astrovirus in untreated sewage from three major hospitals. A comparison with clinical lab test outcomes revealed Norovirus as having the highest infection rate, followed by Adenovirus Group F and Rotavirus Group A. Despite not testing for Astrovirus in clinical labs, its sewage detection rate was surpassed only by Norovirus, suggesting a potentially high clinical infection rate.

Right ventricular volume overload reboots cardiomyocyte proliferation via immune responses.

Background: Right ventricular volume overload (RVVO) is one of the most important hemodynamic characteristics in children with congenital heart disease (CHD) and heart failure, and cardiomyocyte (CM) proliferation is one of the most vital factors for improving cardiac performance. However, whether and how RVVO reboots CM proliferation remains elusive.

Methods And Results: We first created a neonatal RVVO mouse model via abdominal aorta and inferior vena cava-fistula microsurgery at postnatal day 7 (P7), the edge of CM proliferation window.

Histone Deacetylase 7-Derived 7-Amino Acid Peptide Increases Skin Wound Healing via Regulating Epidermal Fibroblast Proliferation and Migration.

Due to the complexity of wound healing, how to achieve successful healing is a significant clinical challenge. In this study, we found that the histone deacetylase-7-derived 7-amino acid peptide (7A, MHSPGAD), especially its phosphorylated version 7Ap (MH[pSer]PGAD), increased dermal fibroblast cell HDFα proliferation and migration via elevated delta-catenin (CTNND1) serine phosphorylation-mediated beta-catenin (CTNNB) nuclear translocation and subsequent upregulation of c-Myc and cyclin D1 expression. 7Ap physically interacted with platelet-derived growth factor receptor (PDGFR) and increased PDGFR interaction with cyclin-dependent kinase 6 (CDK6).

Fungibility, accessibility and clinical utility of remote electronic fetal monitoring in improving maternal emotional status compared with traditional method: A multicenter prospective cohort analysis.

Objective: Supported by remote signal processing techniques and wireless communication technology, remote electronic fetal monitoring (REFM) has emerged as a promising alternative to traditional electronic fetal monitoring (TEFM) in clinical practice. The aim of this study was to evaluate the comparability, accessibility, and clinical utility of REFM in contrast to TEFM.

Methods: This was a multicenter prospective cohort study.

[Clinical features and genetic analysis of four children with Phelan-McDermid syndrome].

Objective: To explore the clinical characteristics and genetic etiology of four children with Phelan-McDermid syndrome (PMS).

Methods: Four children who had visited the Ningbo Women and Children's Hospital between June 2, 2022 and May 8, 2023 were selected as the study subjects. Clinical data of the children were collected.

FGF21 Ameliorates Fibroblasts Activation and Systemic Sclerosis by Inhibiting CK2α/GLI2 Signaling Axis.

Systemic sclerosis is a typical fibrotic disease of unknown etiology that is characterized by abnormal fibroblast activation and excessive deposition of extracellular matrix. Unfortunately, effective therapeutic approaches are lacking. FGF21 plays a key role in mediating a variety of biological activities.

[Clinical features and genetic analysis of a case with CHARGE syndrome due to variant of CHD7 gene].

Objective: To explore the genetic basis for child with CHARGE syndrome.

Methods: A child who was diagnosed at Ningbo Women and Children's Hospital on September 29, 2022 was selected as the study subject. Relevant clinical data were collected.

Ultrasonographic and clinicopathological features of pelvic yolk sac tumors in women: a single-center retrospective analysis.

Objectives: Yolk sac tumors (YSTs) are rare and highly malignant ovarian malignancies that have a very poor prognosis. The aim of this study is to delineate the ultrasound and clinicopathological features of female pelvic YSTs to better understand the disease.

Methods: This study was a retrospective analysis of the clinicopathological and ultrasound imaging data from 16 YST patients who received treatment at our hospital between January 2012 and August 2023.

[Clinical characteristics and genetic analysis of children and adolescents with monogenic diabetes].

Objective: To explore the clinical characteristics and molecular basis for children and adolescents with monogenic diabetes.

Methods: A retrospective analysis was carried out for the clinical manifestations and laboratory data of 116 children and adolescents diagnosed with diabetes at Ningbo Women and Children's Hospital from January 2020 to March 2023. Whole exome sequencing and mitochondrial gene sequencing were carried out on 21 children with suspected monogenic diabetes.

Identification of four TTN variants in three families with fetal akinesia deformation sequence.

Background: TTN is a complex gene with large genomic size and highly repetitive structure. Pathogenic variants in TTN have been reported to cause a range of skeletal muscle and cardiac disorders. Homozygous or compound heterozygous mutations tend to cause a wide spectrum of phenotypes with congenital or childhood onset.

Uterine epithelioid trophoblastic tumor with the main manifestation of increased human chorionic gonadotropin: A case report.

Background: Epithelioid trophoblastic tumor (ETT) is an extremely rare malignant gestational trophoblastic neoplasm commonly presenting with abnormal vaginal bleeding, abdominal pain, and increased human chorionic gonadotropin (hCG). This study reported a case of uterine ETT with the main manifestation being increased hCG.

Case Summary: A 39-year-old female was referred to the Ningbo Maternal and Child Hospital of China in December 2022, complaining of increased hCG levels for 1 month.

Genomic investigation and nationwide tracking of pediatric invasive nontyphoidal in China.

Invasive nontyphoidal (iNTS) causes significant concern with ~15% morbidity, affecting populations mainly in African countries. However, iNTS infections among the Chinese pediatric population remain largely unknown. Here, we conducted a genomic investigation to study pediatric iNTS infections in a Chinese hospital.

Expression of CD109 in oral squamous cell carcinoma and its clinical significance.

The purpose of this study was to investigate the expression of CD109 and its clinicopathological significance in oral squamous cell carcinoma. Data from TIMER2.0 and UALCAN were analyzed to assess CD109 mRNA levels in OSCC.

The effect of developmental care on the length of hospital stay and family centered care practice for very low birth weight infants in neonatal intensive care units: A cluster randomized controlled trial.

Background: Despite previous studies suggesting that developmental care can provide benign stimulation to promote neural development of newborns, more evidence is needed regarding the other clinical benefits of developmental care.

Objective: To evaluate the effect of implementing developmental care on the length of hospital stay, the improvement of care practice in neonatal intensive care units, as well as the short-term outcome of very low birth weight infants.

Design: Cluster-randomized controlled trial.

Knowledge, attitude, and practice toward allergic rhinitis among parents in Ningbo, China.

Background: This study examined the knowledge, attitude, and practice (KAP) toward allergic rhinitis (AR) among parents.

Methods: This cross-sectional study enrolled parents of children with AR at Ningbo Hangzhou Bay Hospital between December 2022 and March 2023. A self-administered questionnaire was developed to collect the demographic characteristics, knowledge, attitudes, and practices toward AR.

Complete rupture of the pregnant uterus: A 12-year retrospective study.

Objective: To assess the frequency of uterine ruptures, clinical characteristics, and maternal and neonatal outcomes in a tertiary referral center.

Methods: Information on complete uterine rupture between July 2010 and June 2022 was investigated retrospectively at a tertiary center.

Results: There were 42 cases of complete uterine rupture in 144 474 deliveries, with an incidence rate of 0.

Elastic stable intramedullary nail combined with Kirschner wire (E-K) technique for treating pediatric distal tibial diaphyseal metaphyseal junction (DTDMJ) fractures.

Objective: Elastic stable intramedullary nail (ESIN) is a commonly used method for treating diaphyseal fractures of the tibia, but its application in Distal Tibial Diaphyseal Metaphyseal Junction (DTDMJ) fractures has been a subject of controversy. This study aims to evaluate the clinical efficacy of the Elastic stable intramedullary nail-Kirschner wire (E-K) technique in treating pediatric DTDMJ fractures, providing better clinical decision-making for clinicians in diagnosing and treating such fractures.

Methods: We conducted a retrospective analysis of patients aged 3-9 years who received treatment at our hospital from January 2019-January 2021 for distal tibial diaphyseal metaphyseal junction (DTDMJ) fractures.