ObjectiveTo investigate the acute effects of compound air pollution on children’s respiratory function. MethodsUsing panel group study design， 223 students in five classes of grade 4 from two primary schools （a， b） in Xuhui and Hongkou districts of Shanghai were randomly selected to measure pulmonary function and exhaled nitric oxide （FeNO）. The first three tests were carried out from May to June in 2020， and the fourth test was carried out from September to December in 2021. At the same time， the daily and hourly mean values of PM_2.5， PM₁₀， SO₂， NO₂， O₃ and CO was collected from the nearby air quality monitoring points of the two schools during the same period ， as well as meteorological monitoring data （temperature， humidity， wind speed and atmospheric pressure）. The linear mixed effect model was used to analyze the effects of air pollution on pulmonary function and respiratory inflammation in the summer. ResultsThe results of single pollutant model showed that PM_2.5， PM_10， SO₂ and NO₂ were positively correlated with FeNO， and the effect was reflected in lag0， lag1 and lag3 （P<0.05）. PM_2.5， PM₁₀ and NO₂ were negatively correlated with the changes of lung function FEF_25%， FEF_50%， FEF_75%， FeF_25%-75%， PEF， FVC， FEV1 and FEV1/FVC， and the effect was reflected in lag0 to lag3 days （P<0.05）. The results of the dual pollutant model showed that the concentration changes of SO₂ and NO₂ were significantly correlated with the decrease of FEV1 when combined with O₃ or PM_2.5 （P<0.01）， and the concentration changes of PM_2.5 was significantly correlated with the increase of FeNO when O₃， SO₂ and NO₂ were combined respectively （P<0.01）. The effects of the dual pollutant model were greater than the effect of PM_2.5 single pollutant model. ConclusionThe health effects of different air pollutants on children’s respiratory tract function indexes in summer are different. The combined effects of two pollutants on the lung function of children increased to different degrees. Although air pollution is light in summer， it still has an impact on children’s respiratory tract function index and inflammation index， and the combined effect of dual pollutants is more significant than that of single pollutant.

Objective To investigate the genetic causes of auditory neuropathy with optic atrophy in a family.Methods The proband's medical history and family history were inquired in detail,and relevant clinical examina-tions were performed to confirm the diagnosis of auditory neuropathy with optic atrophy,and the genetic pedigree of the family was drawn.Peripheral blood of proband(Ⅲ-7)was collected for whole exome sequencing,and the patho-genicity of the detected mutations were interpreted.Blood samples of proband's wife(Ⅲ-8),eldest daughter(Ⅳ-7),second daughter(Ⅳ-9)and son(Ⅳ-10)were tested for mutation sites by Sanger sequencing.Combined with clinical manifestations and examination results,the family was studied.Results The genetic pattern of this family was autosomal dominant.The proband showed decreased visual acuity at the age of 19,bilateral sensorineural deaf-ness at the age of 30,and decreased speech recognition rate.Among 20 members of the family of 5 generations,10(2 deceased)showed similar symptoms of hearing and visual impairment.Proband(Ⅲ-7),eldest daughter(Ⅳ-7)and son(Ⅳ-10)underwent relevant examination.Pure tone audiometry showed bilateral sensorineural deafness.ABR showed no response bilaterally.The 40 Hz AERP showed no response in both ears.OAE showed responses in some or all of the frequencies.No stapedial reflex was detected.The eye movement of Ⅲ-7 and Ⅳ-10 were reasona-ble in all directions,and color vision was normal.Ocular papilla atrophy was observed in different degrees in fundus examination.OCT showed thinning of optic disc nerve fibers in both eyes,and visual evoked potential showed pro-longed P100 wave peak.They were diagnosed as hereditary auditory neuropathy with optic atrophy.A mutation of the OPA1 gene c.1334G＞A(p.Arg445His,NM_015560.2)at a pathogenic locus on chromosome 3 was detected by whole exon detection in Ⅲ-7.The results of generation sequencing analysis showed that the OPA1 gene c.1334G＞A(p.Arg445His,NM_015560.2)mutation of chromosome 3 was also found in Ⅳ-7 and Ⅳ-10.Meanwhile,the gen-otypes of Ⅲ-8 and Ⅳ-9 were wild homozygous,that is,no mutation occurred.Conclusion The OPA1 c.1334G＞A(p.Arg445His,NM_015560.2)mutation site might be the pathogenic mutation in this family.

OBJECTIVE: To explore the clinical phenotypes and genetic diagnosis of 2 sporadic cases for cleidocranial dysplasia. METHODS: The clinical data of two cases of CCD admitted to the Third Affiliated Hospital of Zhengzhou University on December 16, 2021 and December 9, 2021 were analyzed retrospectively, and the whole exome sequencing (WES), chromosome microarray analysis and copy number variation sequencing were performed. RESULTS: The main ultrasonographic findings of the fetus had included poorly calcified skull bones, budging of parieto-occipital area, compression and deformation of skull, and loss of nasal bone. The infant's clinical phenotypes included delayed closure of anterior fontanelle, recurrent respiratory tract infection, growth retardation, and clavicular hypoplasia. By WES analysis, the fetus was found to harbor a heterozygous c.911_914delinsTTT variant of the RUNX2 gene, whilst the infant was found to harbor a heterozygous c.1008delT variant of the RUNX2 gene. Both variants were verified by Sanger sequencing to have occurred de novo. CONCLUSION For sporadic cases featuring cleidocranial dysplasia, prenatal ultrasonography is particularly important. Hypoplastic clavicle, skull calcification and nasal bone absence are the main features. Diagnosis should also be suspected for infants featuring growth retardation, recurrent respiratory tract infections and clavicular dysplasia. The identification of the c.911_914delinsTTT and c.1008delT variants of the RUNX2 gene has facilitated genetic counseling and prenatal diagnosis, and also expanded the mutational spectrum of the RUNX2 gene.
Female ; Humans ; Pregnancy ; Cleidocranial Dysplasia/genetics* ; Core Binding Factor Alpha 1 Subunit ; DNA Copy Number Variations ; Growth Disorders ; Retrospective Studies

Objective:To investigate the epidemiological and clinical characteristics of human parainfluenza viruses (HPIVs) infection among hospitalized children with community-acquired pneumonia (CAP) in China, and provide basic data for diagnosis, treatment and prevention of HPIVs infection.Methods:From November 2014 to February 2020, 5 448 hospitalized children with CAP were enrolled in 14 hospitals in 11 provinces and municipalities directly under the Central Government in southern China and northern China. Nasopharyngeal aspirates or throat swabs were collected, and the nucleic acids of 18 types respiratory viruses including HPIV1-4 were screened by suspension array technology. Demographic data and clinical information were collected for statistical analysis.Results:The total detection rate of HPIVs in 5 448 children with CAP was 8.83% (481/5 448), and the detection rate in males was higher than that in females (62.79% vs. 37.21%; χ2=0.000, P=0.992). The detection rate of HPIVs in 1~< 3 years age group was higher than that in other age groups, and the difference was statistically significant ( χ2=61.893, P<0.001). The detection rate of HPIVs in the northern region was higher than that in the southern region (9.02% vs 8.65%), but the difference was not statistically significant ( χ2=0.239, P=0.625). The prevalence of HPIV1-4 in northern and southern China was not completely same. HPIV1 was mainly prevalent in autumn in both northern and southern regions. HPIV2 was prevalent in summer in northern China, and the detection rate was low in southern China. HPIV3 reached its peak in both spring and summer in both northern and southern China, but its duration was longer in southern China than in northern China. HPIV4 is mainly popular in autumn in both southern China and northern China. Among 481 children infected with HPIVs, 58.42% (281/481) were infected with HPIV alone, and the main clinical manifestations were cough (90.75%) and fever (68.68%). Out of the HPIV-positive cases, 42.62% (205/481) were co-infected with another type of HPIV or a different virus, while 11.43% (55/481) had co-infections with two or more different viruses. HPIV3 was the most common type of co-infection with other viruses. HPIV3 infection accounted for the largest proportion (76.80%) in 47 HPIVs-positive children with severe pneumonia. Conclusions:HPIVs is one of the most important pathogens causing CAP in children in China, and children under 3 years of age are the main populations of HPIVs infection. The prevalence characteristics of all types of HPIVs in children in the north and south are not completely same. HPIV3 is the dominant type of HPIV infections and causes more severe diseases.

Background Mitochondrial dynamin-related protein 1 (DRP1) regulates mitochondrial division and plays an important role in maintaining hepatocyte function. However, the role of DRP1 in cadmium exposure-induced maternal liver damage in pregnant mice remains unclear. Objective To investigate the role and mechanism of DRP1 in maternal liver damage induced by cadmium exposure during pregnancy. Methods This study consisted of animal experiments and cell experiments. (1) Animal experiments. Mice at 14 days of gestation were randomly divided into three groups: a control group, a low-dose cadmium group (LCd group: 2.5 mg·kg⁻¹), and a high-dose cadmium group (HCd group: 5 mg·kg⁻¹). The pregnant mice were intraperitoneally injected with cadmium chloride (CdCl₂) for 6 and 24 h in the next morning. The weights of pregnant mice, uterus, maternal liver, and fetal mice were recorded after sacrifice. Serum and liver of pregnant mice were collected, the levels of alanine aminotransferase (ALT) and aspartate aminotransferase (AST) in serum were detected, and liver tissues were stained with HE to observe changes in liver function and liver tissue structure. The expressions of oxidative phosphorylation-related proteins, hypoxia inducible factor-1α (HIF-1α) and DRP1 proteins in liver of pregnant mice were detected by Western blotting. (2) Cell experiments. AML12 cells were treated with CdCl₂ (10 μmol·L⁻¹) for 0, 2, 6, 12, and 24 h. The expressions of oxidative phosphorylation-related proteins, DRP1, and hypoxia inducible factor-1α (HIF-1α) proteins were detected. AML12 cells were pretreated with DRP1 inhibitor Mdivi-1 for 1 h and then CdCl₂ (10 μmol·L⁻¹) for 12 h to detect the expression of oxidative phosphorylation-related proteins and DRP1 protein. AML12 cells were treated with Hif-1α siRNA for 48 h and CdCl₂ (10 μmol·L⁻¹) for 6 h to detect the expression of HIF-1α and DRP1 proteins. Results The results of animal experiments showed that cadmium exposure in pregnant mice had no effects on maternal liver weight and liver coefficient. However, the histomorphological changes and necrosis in hepatocytes were observed. Compared with the control group, the serum ALT and AST levels of pregnant mice in the LCd group were significantly increased after 6 h (P＜0.05), and the levels in the HCd group were significantly increased after 6 and 24 h (P＜0.05). Cadmium exposure during pregnancy significantly up-regulated HIF-1α and DRP1 expressions and down-regulated the expressions of oxidative phosphorylation-related proteins in maternal livers. In vitro cell experiments showed that the expressions of oxidative phosphorylation-related proteins was significantly decreased and HIF-1α and DRP1 protein expressions were significantly increased in the AML12 cells treated with CdCl₂ for 6 h. Mdivi-1 pretreatment significantly antagonized the inhibitory effect of cadmium on the expressions of oxidative phosphorylation-related proteins in AML12 cells, while Hif-1α siRNA pretreatment significantly antagonized the up-regulative effect of cadmium on DRP1 expression in AML12 cells. Conclusion Cadmium exposure in pregnant mice may up-regulate DRP1 expression by activating HIF-1α signaling, then inhibit oxidative phosphorylation level of hepatic cells, and ultimately lead to maternal liver damage.

As a common psychiatric disorder, the etiology and pathogenesis of depression are complex and not yet fully elucidated.The diagnosis of depression mainly depends on the patients’ medical history, clinical symptoms and related examinations.Identification of biomarkers will provide important clues for the specific diagnosis and targeted treatment of depression.In addition to the widely recognized neurotransmitter dysregulation, hypothalamus-pituitary-adrenal axis hyperactivity, neuroplasticity, and neuro-inflammation theory, oxidative stress is also involved in the pathogenesis of depression in multiple ways.Many studies showed that the heat shock protein 70(HSP70)levels will increase in early stage to cope with the stress in patients with depression.However, lower HSP70 levels are often correlated with more severe depressive symptoms.HSP70 may be involved in depression through multiple pathways of oxidative stress, glucocorticoid receptors, neuroinflammation and neuroplasticity.Furthermore, increasing HSP70 expression results in significant improvement in depression-like behavior in animals.Thus, HSP70 possesses potential value as an early warning marker for depression as well as a therapeutic target.

OBJECTIVE: To explore the clinical phenotype and genetic variants of a fetus with Glutaracidemia type II C (GA II C). METHODS: Clinical data of a 32-year-old pregnant woman and her fetus with GA II C diagnosed at the Third Affiliated Hospital of Zhengzhou University in December 2021 due to the enlargement and enhanced echo of the kidneys and oligohydramnios fluid at 17 weeks were analyzed retrospectively. Amniotic fluid sample of the fetus and peripheral blood samples of the couple were collected for whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing. Copy number variation (CNV) was detected by using low-coverage whole genome sequencing (CNV-seq). RESULTS: At 18 weeks' gestation, ultrasound revealed that the fetus had enlargement and enhanced echo of the kidneys along with no echo of renal parenchymal tubular fissure and oligohydramnios. MRI at 22 weeks' gestation confirmed that both kidneys were enlarged with uniformly increased abnormal T2 signal and decreased DWI signal. The volume of both lungs was small, with slightly higher T2 signal. No CNV was detected in the fetus. WES revealed that the fetus has harbored compound heterozygous variants of the ETFDH gene, namely c.1285+1G＞A and c.343_344delTC, which were inherited from its father and mother, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were classified as pathogenic (PVS1+PM2_Supporting+PS3_Supporting; PVS1+PM2_Supporting+PM3). CONCLUSION The c.1285+1G＞A and c.343_344delTC compound heterozygous variants of the ETFDH gene probably underlay the disease in this fetus. Type II C glutaric acidemia may manifest as bilateral kidney enlargement with enhanced echo and oligohydramnios. Discovery of the c.343_344delTC has enriched the spectrum of ETFDH gene variants.
Pregnancy ; Humans ; Female ; Mutation ; DNA Copy Number Variations ; Oligohydramnios/genetics* ; Retrospective Studies ; Phenotype ; Fetus/diagnostic imaging*

Objective:To analyze the factors influencing the difference in location of cricothyroid membrane between traditional surface palpation and ultrasonic biplane.Methods:One hundred and seven subjects of both sexes, aged 18 yr, underwent neck ultrasound examination in our hospital from August 2021 to December 2021, were selected.The structure of cervical airway was observed by ultrasound.The subjects in whom the structure of cricothyroid membrane was clearly shown were selected.The middle point of cricothyroid membrane was located by otorhinolaryngologist using surface palpation method and by ultrasonic doctor using ultrasonic biplane method.The distance between two positioning points was measured by a ruler.The subjects were divided into accurate group (distance between two points≤3 mm) and difference group (distance between two points>3 mm). The distance between cricoid cartilage and thyroid cartilage (spacing of cricoid cartilage and thyroid cartilage) and distance between the midpoint of cricothyroid membrane and skin (spacing of cricothyroid membrane and skin) were measured by ultrasound.The neck length and the maximum submaxillary distance in head up were measured by a ruler.The factors influencing the difference in location between the two methods were analyzed by multivariate logistic regression.Results:One hundred and four subjects with clear cricoid cartilage and cricothyroid membrane under ultrasound were selected.There were significant differences in the ratio of gender, body mass index (BMI), cricothyroid membrane-skin distance, neck length, and maximum submandibular distance between the two groups ( P<0.05). Multivariate logistic analysis showed that female ( OR=9.091, P<0.001), BMI ( OR=11.214, P=0.001) and increased cricothyroid membrane-skin distance ( OR=5.649, P=0.015) were the factors influencing the difference in location between the two cricothyroid membrane localization methods. Conclusions:Female, obesity (BMI>28.0 kg/m 2) and increased distance between cricothyroid membrane and skin are the factors affecting the difference in location of cricothyroid membrane between ultrasonic biplane method and surface palpation method, and bedside ultrasound is recommended for location in those with the factors mentioned above.

Background Air quality health index (AQHI) has been widely used to quantify the health effects of multiple pollutants observed in population-based epidemiological studies, and can better reflect the widespread linear non-threshold between air pollution and health effects. Objective To explore an AQHI for pediatric respiratory diseases (AQHI_r) in Shanghai and evaluate its feasibility. Methods The daily numbers of hospital outpatient visits for pediatric respiratory diseases from 2015 to 2019 were obtained from five general hospitals in Xuhui, Baoshan, Hongkou, Jinshan, and Chongming Districts of Shanghai. Monitoring data on air pollutants (PM_2.5, PM₁₀, SO₂, NO₂, and O₃), air quality index (AQI), and meteorological variables (temperature, relative humidity, air pressure, and wind speed) were collected from five air quality monitoring sites nearest to selected hospitals. Time-series analysis using generalized additive model (GAM) was conducted to estimate the associations between respiratory-related pediatric outpatient visits and the concentrations of air pollutants. The sum of excess risk (ER) of hospital outpatient visits was used to construct AQHI_r. To assess the predictive power of AQHI_r, the associations of AQHI_r and AQI with the number of pediatric respiratory outpatient visits in three hospitals in Xuhui, Hongkou, and Chongming districts were compared. Results Air pollutants had various effects on respiratory diseases outpatient visits. PM_2.5, NO₂, and O₃ had most significant impacts on lag0 day and the associated ERs of hospital outpatient visits for each 10 μg·m⁻³ increase in pollutant concentration were 1.27% (95%CI: 0.88%-1.66%), 0.75% (95%CI: 0.40%-1.11%), and 0.36% (95%CI: 0.10%-0.62%), respectively. PM₁₀ and SO₂ had most significant impacts on lag3 day and the associated ERs of hospital outpatient visits for each 10 μg·m⁻³ increase in pollutant concentration were 0.81% (95%CI: 0.51%-1.12%) and 5.64% (95%CI: 3.37%-7.96%), respectively. There were significant effects of combinations of two pollutants among PM_2.5, PM₁₀, NO₂, SO₂, and O₃ except for PM₁₀+NO₂, SO₂+PM_2.5, and SO₂+NO₂ (P<0.05). According to the results of single-pollutant and two-pollutant models, PM_2.5, NO₂, SO₂, and O₃ were selected to construct AQHI_r. The comparison showed that for every interquartile range increase in AQHI_r, the ER for pediatric outpatient visits was higher than that for the value corresponding to AQI. Conclusion Air pollutants in Shanghai have an impact on the number of pediatric respiratory outpatient visits. The AQHI_r based on and outpatient visits for pediatric respiratory diseases can be a sensitive index to predict the effects of air pollution on children's respiratory health.

Objective:To explore the effect of the special group nursing model of internal fistula based on multidisciplinary collaboration in patients with arteriovenous fistula (AVF) pseudoaneurysm.Methods:From February 2019 to August 2020, convenience sampling was used to select 92 patients with AVF pseudoaneurysm in the Blood Purification Center of Seventh People's Hospital of Zhengzhou as the research object. According to the random number table method, the patients were divided into the control group and the observation group, each with 46 cases. The patients in the control group received the conventional nursing model, and the patients in the observation group received the special group nursing model of internal fistula based on multidisciplinary collaboration. The average number of punctures in a single dialysis, the operation rate of pseudoaneurysms, the size and number of pseudoaneurysm, and the incidence of pseudoaneurysm-related complications were compared between the two groups of patients.Results:The average number of punctures in a single dialysis of the observation group was lower than that of the control group, the size of pseudoaneurysm was smaller than that of the control group, and the number of pseudoaneurysm was less than that of the control group, and the differences were statistically significant ( P<0.05) . There was no significant difference in the operation rate of pseudoaneurysm between the observation group and the control group ( P>0.05) . The total incidence of complications in the observation group was 4.35% (2/46) , which was lower than 21.74% (10/46) in the control group, and the difference was statistically significant ( P<0.05) . Conclusions:The special group nursing model of internal fistula based on multidisciplinary collaboration can effectively reduce the average number of puncture per dialysis in patients with AVF pseudoaneurysm, lower the incidence of complications related to pseudoaneurysm, and improve the patient's pseudoaneurysm to a certain extent. It is worthy of clinical promotion.