[Clinical and genetic analysis of a child with ZTTK syndrome due to heterozygous variant of SON gene].

Objective: To explore the genetic etiology of a small-for-date infant with gastrointestinal bleeding, developmental delay and thrombocytopenia (Zhu-Tokita-Takenouchi-Kim syndrome).

Methods: Clinical and laboratory examinations were carried out for the patient. Next-generation sequencing (NGS) was used to detect potential variant associated with the disease.

Successful treatment of polyarteritis nodosa with intestinal necrosis in a Chinese boy: a case report.

Polyarteritis nodosa (PAN) is a systemic necrotizing inflammatory disease of the medium and small arteries which has variable clinical manifestations, course, and organ involvement. Intestinal necrosis resulting from PAN is rare, and successful treatment of such cases is even more uncommon. Here, we report the first successful treatment of PAN with intestinal necrosis in a young Chinese child.

CCDC12 promotes tumor development and invasion through the Snail pathway in colon adenocarcinoma.

Integrative expression Quantitative Trait Loci (eQTL) analysis found that rs8180040 was significantly associated with Coiled-coil domain containing 12 (CCDC12) in colon adenocarcinoma (COAD) patients. Immunohistochemical staining and western blotting confirmed CCDC12 was highly expressed in COAD tissues, which was consistent with RNA-Seq data from the TCGA database. Knockdown of CCDC12 could significantly reduce proliferation, migration, invasion, and tumorigenicity of colon cancer cells, while exogenous overexpression of CCDC12 had the opposite effect.

Hydrogen inhalation promotes recovery of a patient in persistent vegetative state from intracerebral hemorrhage: A case report and literature review.

Background: Persistent vegetative state (PVS) is a devastating and long-lasting clinical condition with high morbidity and mortality; currently, there are no available effective interventions.

Case Summary: We report the case of an 11-year-old boy with PVS caused by severe intracerebral bleeding in the left hemisphere following anticoagulation treatment. The patient's PVS severity showed no notable improvement after 2-mo neuroprotective treatment and rehabilitation, including nerve growth factor and baclofen, hyperbaric oxygen, and comprehensive bedside rehabilitation therapies.

EMX2OS Delays Wilms'Tumor Progression via Targeting miR-654-3p.

Objective: Wilms' tumor is the most common renal cancer among children, and a number of patients with high-risk histology still have a poor prognosis. This study explored the biological function and its potential mechanisms of lncRNA EMX2 opposite strand/antisense RNA (EMX2OS) in the progression of Wilms' tumor.

Materials: Expression of EMX2OS and miR-654-3p was assessed by RT-qPCR.

SQNN: a spike-wave index quantification neural network with a pre-labeling algorithm for epileptiform activity identification and quantification in children.

Electrical status epilepticus during slow sleep (ESES) is a phenomenon identified by strong activation of epileptiform activity in the electroencephalogram (EEG) during sleep. For children disturbed by ESES, spike-wave index (SWI) is defined to quantify the epileptiform activity in the EEG during sleep. Accurate SWI quantification is important for clinical diagnosis and prognosis.

SQNN: A Spike-wave index Quantification Neural Network with a pre-labeling algorithm for epileptiform activity identification and quantification in children.

Objective: Electrical status epilepticus during slow sleep (ESES) is a phenomenon identified by strong activation of epileptiform activity in the electroencephalogram (EEG) during sleep. For children disturbed by ESES, spike-wave index (SWI) is defined to quantify the epileptiform activity in the EEG during sleep. Accurate SWI quantification is important for clinical diagnosis and prognosis.

FTACMT study protocol: a multicentre, double-blind, randomised, placebo-controlled trial of faecal microbiota transplantation for autism spectrum disorder.

Introduction: Autism spectrum disorder (ASD) is a complicated diffuse developmental disorder that commonly involves gastrointestinal distress and dysbacteriosis. Emerging lines of evidence have shown faecal microbiota transplantation (FMT) to be a potential therapeutic strategy for improving the clinical outcomes of patients with ASD by re-establishing their intestinal microflora. We are undertaking the first-ever multicentre, double-blind, randomised controlled trial of FMT for the treatment of children with both ASD and gastrointestinal symptoms and will assess the feasibility and efficacy outcomes of this strategy.

Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.

Objective: Leigh syndrome (LS) is a heterogeneous neurodegenerative disease and the most frequent pediatric manifestation of mitochondrial disease. In the largest patient collection to date, this study aimed to provide new insights into the clinical and genetic spectrum of LS, defect-specific associations, and predictors of disease course and survival.

Methods: Clinical, metabolic, neuroimaging, onset, and survival data were collected from the medical records of 209 patients referred to the Beijing Children's Hospital with symmetrical basal ganglia and/or brainstem neuroimaging changes indicative of LS by 30 centers from the Chinese network of mitochondrial disease (mitoC-NET) between January 2013 and July 2021 for exploratory analysis.

Identification of a novel missense mutation in the TPM1 gene via exome sequencing in a Chinese family with dilated cardiomyopathy: A case report and literature review.

Rationale: Dilated cardiomyopathy (DCM) is a cardiovascular disorder characterized by consecutive ventricular dilation and contractile dysfunction, often leading to congestive heart failure. DCM type 1Y (DCM1Y) is caused by a mutation in the TPM1 (tropomyosin 1) gene. To date, about thirty TPM1 gene mutations have been reported to be related to DCM1Y.

Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay.

Copy number variants (CNVs) are recognized as a crucial genetic cause of neurodevelopmental disorders (NDDs). Chromosomal microarray analysis (CMA), the first-tier diagnostic test for individuals with NDDs, has been utilized to detect CNVs in clinical practice, but most reports are still from populations of European ancestry. To contribute more worldwide clinical genomics data, we investigated the genetic etiology of 410 Han Chinese patients with NDDs (151 with autism and 259 with unexplained intellectual disability (ID) and developmental delay (DD)) using CMA (Affymetrix) after G-banding karyotyping.

Hypoglycemia with lactic acidosis caused by a new MRPS2 gene mutation in a Chinese girl: a case report.

Background: Mitochondrial ribosomal protein S2 (MRPS2) gene mutation, which is related to severe hypoglycemia and lactic acidosis, is rarely reported globally.

Case Presentation: We report a case of a new MRPS2 gene mutation in a Chinese girl who presented with hypoglycemia and lactic acidosis. A homozygous C.

scMAGIC: accurately annotating single cells using two rounds of reference-based classification.

Here, we introduce scMAGIC (Single Cell annotation using MArker Genes Identification and two rounds of reference-based Classification [RBC]), a novel method that uses well-annotated single-cell RNA sequencing (scRNA-seq) data as the reference to assist in the classification of query scRNA-seq data. A key innovation in scMAGIC is the introduction of a second-round RBC in which those query cells whose cell identities are confidently validated in the first round are used as a new reference to again classify query cells, therefore eliminating the batch effects between the reference and the query data. scMAGIC significantly outperforms 13 competing RBC methods with their optimal parameter settings across 86 benchmark tests, especially when the cell types in the query dataset are not completely covered by the reference dataset and when there exist significant batch effects between the reference and the query datasets.

[Surgical tracheoplasty for children with congenital tracheal stenosis undergoing previous balloon dilatation or tracheal metal stent placement: a series of 9 cases].

To examine the outcomes of Slide tracheoplasty for the children with severe congenital tracheal stenosis received previous repeated balloon dilatation or metal stent placement under endoscopy. A retrospective study was conducted in 9 children with congenital tracheal stenosis undergoing previous interventional therapy under tracheoscopy and later received Slide tracheoplasty due to obvious respiratory symptoms at Department of Cardiac Surgery, Qilu Children's Hospital of Shandong University between February 2017 and July 2021. There were 7 males and 2 females with a median age at operation of 72.

Negatively Regulated by miR-29c-3p, MTFR1 Promotes the Progression and Glycolysis in Lung Adenocarcinoma the AMPK/mTOR Signalling Pathway.

Lung adenocarcinoma (LUAD) is the major form of lung cancer that presents a major peril to public health. Owing to the high rates of morbidity, mortality and chemoresistance, it is necessary to develop more effective therapeutic targets of LUAD. Mitochondrial fission regulator 1 (MTFR1) affects the occurrence and development of some diseases by regulating mitochondrial dynamics and is dysregulated in LUAD.

ANKRD1 and SPP1 as diagnostic markers and correlated with immune infiltration in biliary atresia.

The diagnosis of biliary atresia (BA) remains a clinical challenge, reliable biomarkers that can easily distinguish BA and other forms of intrahepatic cholestasis (IC) are urgently needed.Differentially expressed genes were identified by R software. The least absolute shrinkage and selection operator regression and support vector machine algorithms were used to filter the diagnostic biomarkers of BA.

A Metal Ion-Controlled Molecular "Open Bridge" Detecting Oxidative Stress-Disrupted Apoptotic Signaling in Pediatric Neuroblastoma.

Neuroblastoma is a metastatic tumor almost exclusively plaguing young children. To provide an early warning for timely medical interference that may prevent such tragedies from happening, we mimic the biomolecular pathology of this disease and have obtained an assay without using costly biomolecules such as antibodies and enzymes but can still sensitively detect trace level metal ions and metastatic marker proteins in the cerebrospinal fluid of neuroblastoma-bearing children in a one-step and reagentless fashion. Specifically, a surface-tethered "open bridge"-like molecular machine is designed.

Bridging Myositis Ossificans After Supracondylar Humeral Fracture in a Child: A Case Report.

Myositis ossificans is an uncommon complication of trauma and surgery, defined as ossifying changes in a non-osseous tissue such as muscles. It happens after tissue injury, with or without fractures. When myositis ossificans occurs around a joint, it can cause ankylosis, leading to complete dysfunction of the joint.

Activation of pyroptosis and ferroptosis is involved in the hepatotoxicity induced by polystyrene microplastics in mice.

Microplastics (MPs) are new environmental pollutants and have received widespread attention in recent years, but the toxicity of the MPs remains to be fully elucidated. To explore the effect of MPs on hepatotoxicity in mice and unravel the mechanism of pyroptosis and ferroptosis in the process of liver injury, we treated mice with 5.0 μm polypropylene microplastics (MPs) at 0.