Vitamin D levels and Vitamin D-related gene polymorphisms in Chinese children with type 1 diabetes.

Low vitamin D levels may play a role in type 1 diabetes (T1D) susceptibility. Since 25(OH)D synthesis is genetically regulated, single nucleotide polymorphisms (SNPs) of important genes have also been shown to modulate the risk of T1D, so this study aimed to investigate the relationship between five SNPs in CYP2R1, DHCR7, CYP24A1, VDR genes, serum 25(OH)D levels and T1D in Chinese children. This case-control study included 141 T1D patients and 200 age-matched healthy children.

The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review.

Background: PIGA (PIG class A) gene codes for the PIG-A protein, which is a catalytic subunit of GPI-GlcNAc transferase. GPI-anchored proteins play an important role in the metabolism of mammals. Somatic variants of PIGA genes in bone marrow hematopoietic stem cells often result in paroxysmal nocturnal haemoglobinuria, and the germline PIGA variants cause multiple congenital anomalies hypotonia seizures syndrome 2 (MCAHS2) because of glycosylphosphatidylinositol metabolic abnormalities.

Analysis of the risk factors and clinical features of Mycoplasma pneumoniae pneumonia with embolism in children: a retrospective study.

Background: Mycoplasma pneumoniae pneumonia (MPP) is a prevalent disease in community-acquired pneumonia among children. However, in addition to respiratory manifestations, it may also develop extra-pulmonary complications. Embolism is one of the uncommon extra-respiratory manifestations prone to severe sequelae and even death.

Case Report: Cardiac Multiple Thrombus and Pulmonary Embolism Associated With Mycoplasma Pneumonia Infection in a Child.

Mycoplasma pneumoniae (MP) is a common pathogen of lower respiratory tract infection in children and adolescents. Some patients with MP infection are self-limiting, while with the increase of severe or refractory Mycoplasma pneumoniae pneumonia (MPP) in recent years, there is a great increase in reports of thromboembolism in multiple organs, including lung, brain, spleen, and peripheral arteries. Cardiac multiple thrombi and pulmonary embolism associated with MP infection have not been reported.

What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report.

Background: Variants in the DEPDC5 have been proved to be main cause of not only various dominant familial focal epilepsies, but also sporadic focal epilepsies. In the present study, a novel variant in DEPDC5 was detected in the patient with focal epilepsy and his healthy father. We aimed to analyze the pathogenic DEPDC5 variant in the small family of three.

The Gut Microbiota and Inflammatory Factors in Pediatric Appendicitis.

Background: The study analyzed gut microflora's composition and investigated the associations between the associations between gut dysbiosis and inflammatory indicators in pediatric patients with acute appendicitis.

Methods: High-throughput sequencing and bioinformatics analysis were used to investigate the composition and diversity of gut microflora in 20 pediatric patients with acute appendicitis and 11 healthy children. Endpoints measured were operational taxonomic units (OTU) of gut microflora.

[Analysis of a child with severe combined immunodeficiency due to variants of DCLRE1C gene].

Objective: To explore the genetic etiology of a child with severe combined immunodeficiency (SCID).

Methods: Whole exome sequencing (WES) and copy number variation (CNV) analysis were carried out to screen potential variants in the proband. Suspected variants were validated by Sanger sequencing and qPCR.

Development and validation of a nomogram to predict plastic bronchitis in children with refractory Mycoplasma pneumoniae pneumonia.

Background: Early identification of plastic bronchitis (PB) is of great importance and may aid in delivering appropriate treatment. This study aimed to develop and validate a nomogram for predicting PB in patients with refractory Mycoplasma pneumoniae pneumonia (RMPP).

Methods: A total of 547 consecutive children with RMPP who underwent fiberoptic bronchoscopy (FOB) intervention from January 2016 to June 2021 were enrolled in this study.

[Clinical characteristics and vaccination status of SARS-CoV-2 Omicron variant infected children].

To investigate the clinical characteristics and vaccination status of SARS-CoV-2 Omicron variant infected children. A total of 105 children infected with Omicron variant admitted to Tianjin Haihe Hospital (designated referral hospital for SARS-CoV-2 infection in Tianjin) from January 8, 2022 to February 3 were included for a retrospective study. The cases were divided into pneumonia group and non-pneumonia group according to chest imaging.

Identification of two aberrant transcripts by RNA sequencing for a novel variant c.3354 + 5 G > A of MED12 in a Chinese girl with non-syndromic intellectual disability.

Background: Missense variants in MED12 are associated with MED12-related disorders. We aimed to clarify the molecular level changes and underlying pathogenic mechanism of a female patient in our study.

Methods: We reported a Chinese girl with clinical characteristics similar to MED12-related disorders.

The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.

Background: Glycogen storage disease type III (GSD III) is a rare autosomal recessive glycogenolysis disorder due to AGL gene variants, characterized by hepatomegaly, fasting hypoglycemia, hyperlipidemia, elevated hepatic transaminases, growth retardation, progressive myopathy, and cardiomyopathy. However, it is not easy to make a definite diagnosis in early stage of disease only based on the clinical phenotype and imageology due to its clinical heterogeneity.

Case Presentation: We report a two-year-old girl with GSD III from a nonconsanguineous Chinese family, who presented with hepatomegaly, fasting hypoglycemia, hyperlipidemia, elevated levels of transaminases.

Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease.

Menkes disease (MD) is a rare X-linked connective tissue disorder of copper metabolism caused by pathogenic variant(s) in gene. The aim of the present study is to determine the clinical characteristics and molecular basis of one patient with MD. One 10-month-old Chinese boy who met the clinical manifestations of MD was enrolled in this study.

Efficacy and Safety of Diet Therapies in Children With Autism Spectrum Disorder: A Systematic Literature Review and Meta-Analysis.

Objective: Autism Spectrum Disorder is a neurodevelopmental disorder, with a rapid increase in recognition over the past decade. Interest in alternative therapies is growing annually, such as dietary therapies including gluten-free and/or casein-free diet, and the ketogenic diet. However, there is no consensus on the efficacy and safety of dietary therapy in children with ASD up to now.

Characterization of complete Currarino syndrome in pediatrics-a comparison between CT and MRI.

Background: This study sought to analyze the computed tomography (CT) and magnetic resonance imaging (MRI) characteristics of the classical triad elements and the associated anomalies in pediatric complete Currarino syndrome (CS) to evaluate the advantages and disadvantages of the 2 different imaging methods in displaying the abnormalities of this disease.

Methods: The clinical and radiological features of 32 pediatric patients with complete CS diagnosed histologically and/or radiologically were retrospectively analyzed.

Results: All 32 complete CS patients presented with the classical triad of congenital anorectal malformation (ARM), sacral agenesis, and presacral mass.

Case Report: A Case of β-Ureidopropionase Deficiency Complicated With MELAS Syndrome Caused by Variant and Mitochondrial Gene Variant.

Background: β-Ureidopropionase deficiency is a rare autosomal recessive disease affecting the last step of pyrimidine degradation. Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare inherited disorder caused by genetic defects in mitochondrial DNA.

Case Presentation: One 8-year-old boy presented with dizziness, vomiting, and convulsions.

Cryptogenic massive hemoptysis caused by bronchial artery-pulmonary artery fistula in a 12-year-old boy: A case report and literature review.

Background: Hemoptysis is a frequently encountered symptom of the respiratory system in adult but is rare in children. Bronchial artery-pulmonary artery fistula (BPF) is one of the most important and life-threatening cause in pediatric hemoptysis patients. Although the severity of BPF has been proved in previous studies, details about clinical diagnosis and treatment of BPF in children have been rarely reported.

Mycoplasma pneumoniae among Chinese Outpatient Children with Mild Respiratory Tract Infections during the Coronavirus Disease 2019 Pandemic.

Mycoplasma pneumoniae is a common pathogen causing respiratory disease in children. We sought to investigate the epidemiology of M. pneumoniae among outpatient children with mild respiratory tract infections (RTIs) during the coronavirus disease 2019 (COVID-19) pandemic.

[Analysis of gene variant in an infant with succinic semialdehyde dehydrogenase deficiency].

Objective: To explore the genetic basis for a child with succinate semialdehyde dehydrogenase deficiency.

Methods: Peripheral blood samples of the proband and his parents were collected and subjected to Sanger sequencing. High-throughput sequencing was used to verify the gene variants.

Molecular epidemiology of norovirus infections in children with acute gastroenteritis in 2017-2019 in Tianjin, China.

Norovirus (NoV) is the leading cause of acute gastroenteritis (AGE) worldwide. Globally, the GII.4 Sydney 2012 strain has predominated since 2012, although GII.

A cohort of five cases with asymmetric conjoined twining and literature review.

Purpose: Asymmetric conjoined twining (ACT) is a form of conjoined twining which is a rare malformation of monochorionic monoamniotic twin pregnancy. Most publications were single case reports. We reported a cohort of five cases with ACT from a single tertiary medical center and reviewed the case reports of ACT over the last decade to enrich the clinical research of this disease and summarized the clinical features of the disease.

RNA sequencing combining with whole exome sequencing reveals a compound heterozygous variant in ATM in a girl with atypical ataxia-telangiectasia.

Ataxia-telangiectasia (A-T) is an infrequent autosomal recessive multisystem disorder characterized by progressive cerebellar ataxia, oculo-cutaneous telangiectasia, a tendency to malignancies and variable immunodeficiency. Here we described a 5-year-old girl with atypical A-T symptoms. And 2 different ATM variants c.

Phenotypic and genotypic analysis of children with methylmalonic academia: A single-center study in China and a recent literature review.

Background: Methylmalonic acidemia (MMA) is a rare inherited metabolic disease caused by methylmalonyl-CoA deficiency or cobalamin metabolism disorder. It is mainly inherited in autosomal recessive mode. According to whether combined with homocysteinemia and the causative genes, it can be divided into many different subtypes.

Molecular epidemiology and genetic diversity of norovirus among hospitalized children with acute gastroenteritis in Tianjin, China, 2018-2020.

Background: Norovirus (NoV) is a major cause of viral acute gastroenteritis (AGE) in children worldwide. Epidemiological analysis with respect to the virus strains is limited in China. This study aimed to investigate the prevalence, patterns, and molecular characteristics of NoV infection among children with AGE in China.