Effectiveness and safety analysis of ketogenic diet therapy for drug-resistant epilepsy caused by structural pathology.

Objective: To explore the effectiveness and safety of the ketogenic diet (KD) in children with drug resistant epilepsy (DRE) caused by structural etiology.

Methods: The children were categorized into acquired brain injury group and malformations of cortical development (MCD) group based on the etiology. Follow-up assessments were performed at 1, 3, and 6 months after KD treatment to observe seizure reduction, behavioral and cognitive improvements, adverse reactions events, and reasons for discontinuation withdrawal.

Clinical and genetic characteristics of hypoparathyroidism in children: a multicenter experience in China.

Objective: This study was aimed to analyze the clinical and genetic characteristics of hypoparathyroidism in children.

Methods: We performed a retrospective analysis of 74 patients diagnosed with pediatric hypoparathyroidism from 2014 to 2023, recruited in five medical centers across China. Data of basic information and clinical tests were extracted from patients' records.

Iparomlimab (QL1604) in patients with microsatellite instability-high (MSI-H) or mismatch repair-deficient (dMMR) unresectable or metastatic solid tumors: a pivotal, single-arm, multicenter, phase II trial.

Though several anti-PD-1/PD-L1 antibodies approved for monotherapy in microsatellite instability-high or mismatch repair-deficient unresectable/metastatic solid tumors, novel immunotherapy with better anti-tumor activity is needed in clinic. In this single-arm, multicenter, pivotal, phase II study, patients received iparomlimab (a novel humanized anti-PD-1 mAb, 200 mg or 3 mg/kg for patients with body weight < 40 kg, IV, Q3W) until disease progression, intolerable toxicities, withdrawal of consent, death, or up to 2 years. The primary endpoint was objective response rate (ORR) assessed by independent radiological review committee (IRRC).

[Analysis of clinical characteristics and genetic variants in two pedigrees affected with Autosomal dominant intellectual developmental disorder 49].

Objective: To explore the clinical and genetic features of two Chinese pedigrees affected with Autosomal dominant intellectual developmental disorder 49 (MRD49).

Methods: Two MRD49 pedigrees which were admitted to the Children's Hospital Affiliated to Shandong University respectively on January 28, 2021 and November 10, 2022 were selected as the study subjects. Clinical data of the two pedigrees were collected and analyzed.

Improving methylmalonic acidemia (MMA) screening and MMA genotype prediction using random forest classifier in two Chinese populations.

Background: Methylmalonic acidemia (MMA) is one of the most common hereditary organic acid metabolism disorders that endangers the lives and health of infants and children. Early detection and intervention before the appearance of a newborn's clinical symptoms can control disease progression and prevent or mitigate its serious consequences.

Methods: 42,004 newborns from two Chinese populations were included in the study.

Targeting ESM1 via SOX4 promotes the progression of infantile hemangioma through the PI3K/AKT signaling pathway.

Background: Infantile hemangioma (IH) is the most prevalent benign vascular tumor in children, yet its pathogenesis remains incompletely understood. Research has established a strong association between SOX4 and tumor blood vessel formation. The objective of this study was to investigate the function and underlying mechanism of SOX4 in IH development with the aim of identifying novel therapeutic targets.

Male infertile couples: an actor-partner interdependence model of attachment styles and fertility pressure.

Background: Couples undergoing artificial insemination by donor semen(AID) represent a unique group of infertility patients, the relationship between fertility pressure and attachment styles remains unclear. To investigate the fertility pressure and attachment dimensions in artificial insemination by donor semen(AID) couples, and develop an Actor-Partner Interdependence Model (APIM) for patient care.

Methods: This study is a cross-sectional study.

Duration of onset, body temperature and C-reactive protein can be used to predict the results of pus culture in children with acute osteomyelitis of long bones.

Background: With the application of PCR testing and Metagenomic Next-Generation Sequencing(mNGS), the detection rate of causative organisms in paediatric bone and joint infections has been greatly improved. The aim of our study is to identify some indicators that could be used to distinguish the culture results to optimize the use of PCR and mNGS.

Methods: In this study, a total of 117 cases of acute osteomyelitis of long bones in children who underwent pus culture were included.

A Novel Liver Metastasis Score for Patients Undergoing Surgical Resection of Gastroenteropancreatic Neuroendocrine Tumors: A Multi-institutional Study.

Background: Liver metastasis impacts survival in patients with gastroenteropancreatic neuroendocrine tumors (GEP-NETs); however, current guidelines lack consensus on post-resection surveillance and adjuvant therapy. A comprehensive risk stratification tool is needed to guide personalized management.

Objective: We aimed to develop and validate a predictive model for liver metastasis risk after surgical resection of GEP-NETs that incorporates pathological factors and adjuvant therapy.

Interactions between microbiota and uterine corpus endometrial cancer: A bioinformatic investigation of potential immunotherapy.

Microorganisms in the gut and other niches may contribute to carcinogenesis while also altering cancer immune surveillance and therapeutic response. However, determining the impact of genetic variations and interplay with intestinal microbes' environment is difficult and unanswered. Here, we examined the frequency of thirteen mutant genes that caused aberrant gut in thirty different types of cancer using The Cancer Genomic Atlas (TCGA) database.

Novel FLNC variants in pediatric cardiomyopathy: an insight into disease mechanisms.

Background: FLNC gene variants have predominantly been reported in adult populations with cardiomyopathies, and early-onset cases are less common. The genotype-phenotype relationship indicates that dilated cardiomyopathy (DCM) is often associated with FLNC truncating variants.

Methods: We conducted a comprehensive genetic analysis using next generation sequencing (NGS) to identify FLNC variants in patients with cardiovascular conditions.

Establishment of an induced pluripotent stem cell line (SDCHi011-A) from a healthy Chinese female donor.

We generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a healthy 40-year-old Chinese Han female, using non-integrated reprogramming technology. The established iPSC line, SDCHi011-A, expressed pluripotency marker and could differentiate into cells of three germ layers in vitro with normal karyotype. This cell line is a valuable resource as a control line for stem cell research of disease models and molecular pathogenesis.

Dynamic pharyngeal carriage of Neisseria species in healthy population.

Considering the significant role of commensal Neisseria carried in the pharynx on the variation of N.meningitidis and the acquisition of its resistance genes, understanding the true Neisseria population colonizing the human pharynx is of great significance. In this study, we carried out a five-month continuous survey of oropharyngeal carriage in a certain healthy population to reveal the long-term carriage status of different Neisseria species.

The first child with mixed invasive pulmonary and infection: a case report and literature review.

Purpose: Coinfections or consecutive infections of and are exceedingly uncommon in children, we report the case to offer the valuable experience for colleagues facing similar situations.

Case Report: This report documents the first recorded case of successful treatment for pulmonary mixed infection in a diabetic girl. Initially, the patient underwent treatment based on voriconazole, but the infection continued to deteriorate.

Establishment of a transgene-free iPS cell line (SDCHi002-A) from a young patient bearing a NPRL3 mutation and suffering from Epilepsy.

Epilepsy affects ∼ 65 million people worldwide. In this study, peripheral blood mononuclear cells were isolated from a young patient patient bearing a Nitrogen Perntease Regulator Like 3 Protein (NPRL3) mutation and suffering from Epilepsy verified by clinical and genetic diagnosis. Induced pluripotent stem cells (iPSCs) were established by a non-integrative method, using plasmids carrying OCT4, SOX2, KLF4, BCL-XL and C-MYC.

Transformation of macrophages into myofibroblasts in fibrosis-related diseases: emerging biological concepts and potential mechanism.

Macrophage-myofibroblast transformation (MMT) transforms macrophages into myofibroblasts in a specific inflammation or injury microenvironment. MMT is an essential biological process in fibrosis-related diseases involving the lung, heart, kidney, liver, skeletal muscle, and other organs and tissues. This process consists of interacting with various cells and molecules and activating different signal transduction pathways.

Transumbilical single-site laparoscopic treatment of primary splenic cyst in child: a rare case report and review of literature.

Background: Splenic cysts are relatively rare benign tumors that are asymptomatic in most patients and are usually discovered incidentally by imaging. In our case, we report a splenic cyst in a child who underwent laparoscopic partial splenectomy.

Case Description: A 13-year-old boy was admitted to the hospital after an incidental finding of a splenic cyst on an abdominal ultrasound conducted 4 days prior.

Annexin A1: a key regulator of T cell function and bone marrow adiposity in aplastic anaemia.

This study investigates the role of Annexin A1 (ANXA1) in regulating T cell function and its implications in bone marrow adiposity in aplastic anaemia (AA). Utilizing single-cell sequencing analysis, we compared bone marrow tissues from AA patients and healthy individuals, focusing on T cell subgroups and their impact on bone marrow pathology. Our findings reveal a significant activation of CD8 T cells in AA, driven by reduced ANXA1 expression.

Simultaneous unilateral thoracoscopic resection of bilateral pulmonary sequestration.

Background: Intra-lobar (ILS) and extra-lobar lung (ELS) sequestrations represent rare congenital lung malformations. Despite their benign nature, the lesions pose risks such as recurrent pulmonary infections, hemoptysis, congestive heart failure, and tumor development. Pulmonary sequestration (PS) typically manifests in two forms, ILS and ELS, with bilateral occurrence being exceptionally rare and mostly requiring bilateral thoracic surgery.