[Clinical characteristics and genetic analysis of two children with Multiple mitochondrial dysfunction syndrome due to variants of IBA57 gene].

Objective: To investigate the clinical features and genetic variants associated with Multiple mitochondrial dysfunction syndrome (MMDS) type 3 in two children.

Methods: Two children diagnosed with MMDS type 3 at Zhuhai Maternal and Child Health Care Hospital in January 2021 were selected for this study. A retrospective analysis of their clinical data was carried out.

Calcitonin gene-related peptide: a possible biomarker in migraine patients with patent foramen ovale.

Background: Serum CGRP has been found to increase during migraine attack. However, whether CGRP can identify MA with PFO subtypes in MA remains unknown. This study aimed to investigate the differential expression of calcitonin gene-related peptide (CGRP) between migraine (MA) patients with and without patent foramen ovale (PFO), and to evaluate the predictive value of CGRP for MA with PFO.

[Application of high-throughput sequencing technology in prenatal thalassemia screening in Zhuhai region].

Objective: To compare the performance of high-throughput sequencing technology in prenatal thalassemia screening in Zhuhai area through comparison with traditional methods.

Methods: A total of 1463 pregnant women were randomly selected. Following DNA extraction, high-throughput sequencing and conventional three-step thalassemia screening were carried out for each sample.

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.

[Phenotypic and genetic analysis of acute megakaryoblastic leukemia in young children with WT1, MLL-PTD and EVI1 genes].

Objective: To explore the phenotypic and genetic characteristics of acute megakaryoblastic leukemia (AMKL) in young children accompany by WT1, MLL-PTD and EVI1, in order to improve the diagnosis level of AMKL.

Methods: EDTA-K anticoagulation venous blood was collected for blood routine and morphological analysis of blood cells; bone marrow was extracted for cell morphology, immunophenotype, chromosome karyotype and fusion gene analysis.

Results: White blood cell count was 12.

The relationship between 2019-nCoV and psychological distress among parents of children with autism spectrum disorder.

Objectives: The psychological distress caused by COVID-19 may be pronounced among the parents of children with autism spectrum disorder (ASD). This study aimed to investigate psychological distress among parents of children with ASD during the COVID-19 pandemic.

Methods: A total of 1764 parents of children with ASD and 4962 parents of typically developing (TD) children were recruited.

Alterations of the endocannabinoid system and its therapeutic potential in autism spectrum disorder.

Autism spectrum disorder (ASD) is a group of developmental disabilities, the aetiology of which remains elusive. The endocannabinoid (eCB) system modulates neurotransmission and neuronal plasticity. Evidence points to the involvement of this neuromodulatory system in the pathophysiology of ASD.

[Prenatal diagnosis and genetic analysis of a 46,XN,del(11)(q14q22) fetus].

Objective: To diagnose a 46,XN,del(11)(q14q22) fetus by non-invasive prenatal testing (NIPT), karyotype analysis and whole genome sequencing (WGS).

Methods: Peripheral blood sample of the gravida was taken for NIPT screening. Blood samples of the gravida, her husband, and umbilical cord blood were also taken for chromosome karyotyping and whole genome sequencing (WGS).

[Hearing assessment and follow-up study of aeonatal deafness gene screening homozygous mutation infants].

To analyze the hearing assessment characteristics and follow-up of some deafness gene screening homozygous infants in Zhuhai. The clinical data of 28 newborns with homozygous mutations transferred to Zhuhai Maternal and Child Health Hospital from Feb. 1, 2015 to Oct.

The epidemic characteristics and spatial autocorrelation analysis of hand, foot and mouth disease from 2010 to 2015 in Shantou, Guangdong, China.

Background: Hand, foot and mouth disease (HFMD) is the highest incidence of infectious diseases in China. Shantou is one of the most infected cities. Therefore, it is necessary for us to understand the epidemic characteristics and distribution trend of HFMD in Shantou.

Long-term effect of catheter ablation on tachycardia-bradycardia syndrome: evidenced by 10 years follow up.

Catheter ablation has been used for the treatment of tachycardia-bradycardia syndrome (TBS). However, data on its long-term effect of rhythm control and stroke are limited. Patients with TBS admitted in the First Affiliated Hospital of Dalian Medical University from 2002 to 2013 were reviewed in the present study.

[Congenital ear deformity screening and non-invasive correction effect analysis].

To synchronously perform external auricle examination during neonatal hearing screening, follow up auricle deformity with neonatal disease screening system, and calculate the incidence of auricle deformity, self-healing rate, correction rate, incidence of complications and the relationship with hearing loss in Zhuhai area. According to the diagnostic criteria of auricle deformity, the newborns in Zhuhai Maternal and Child Health Hospital were examined on the spot within 2 months. The deformity auricle was registered and uploaded into the newborn hearing screening system.

Lentivirus-mediated over-expression of let-7b microRNA suppresses hepatic fibrosis in the mouse infected with Schistosoma japonicum.

Transforming growth factor-β (TGF-β) signaling pathway is documented to participate in liver fibrosis via multifactorial mechanisms. microRNA Let-7b (Let-7b) has been proved to alleviate cell fibrosis through regulating TGF-β receptor I (TβRI), but whether it is involved in Schistosomiasis liver fibrosis (SLF) has not been determined. In the present, SLF mice model was used to investigate Let-7b's function and mechanism in SLF.

Nasal endoscopic findings and nasal symptoms in patients with asthma: a clinical study from a rhinological perspective.

Objective: Allergic rhinitis (AR), non-allergic rhinitis (NAR), chronic rhinosinusitis with nasal polyps (CRSwNP), and chronic rhinosinusitis without nasal polyps (CRSsNP) occur frequently in asthmatic patients. We evaluated nasal symptoms and nasal endoscopic findings in patients with asthma and correlated them to asthma severity.

Methods: Subjects (n=150) with asthma completed questionnaires designed to provide information related to asthma and nasal disease.

[Rapid differential diagnosis of thalassemia trait and iron-deficiency anemia with stepwise regression analysis].

Objective: To establish a method for rapid differential diagnosis of thalassemia trait (TT) and iron-deficiency anemia (IDA) using stepwise regression analysis.

Methods: Stepwise regression equation was established for differential diagnosis of TT and IDA according to the red cell index, and the accuracy of the differential diagnosis was evaluated using blind analysis.

Results: The accuracy of this equation for differential diagnosis of TT and IDA was 86.