OBJECTIVE: To analyze the clinical features and genotype of a child with Schmid type metaphyseal chondrodysplasia. METHODS: Clinical data of the child and her parents was collected. The child was subjected to high-throughput sequencing, and candidate variant was verified by Sanger sequencing of her family members. RESULTS: Whole exome sequencing revealed that the child has harbored a heterozygous c.1772G>A (p.C591Y) variant of the COL10A1 gene, which was not found in either of her parents. The variant was not found in the HGMD and ClinVar databases, and was rated as likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). CONCLUSION The heterozygous c.1772G>A (p.C591Y) variant of the COL10A1 gene probably underlay the Schmid type metaphyseal chondrodysplasia in this child. Genetic testing has facilitated the diagnosis and provided a basis for genetic counselling and prenatal diagnosis for this family. Above finding has also enriched the mutational spectrum of the COL10A1 gene.
Humans ; Child ; Female ; Mutation ; Osteochondrodysplasias/diagnosis* ; Heterozygote ; Molecular Biology

Objective:To explore the common signaling pathways of Helicobacter pylori(Hp) infection and rosacea and screen Hub genes by bioinformatic analysis. Methods:Gene expression data sets related to Hp (GSE70394) and rosacea (GSE65914) were downloaded from GEO database. The common differentially expressed genes (DEGs) were screened by using the limma package of R and Venn diagram. Metascape database was used for gene ontology(GO) enrichment analysis, and clusterProfiler package of R was used for Kyoto encyclopedia of genes and genomes(KEGG) analysis on up-regulated and down-regulated genes. Subsequently, STRING and Cytoscape software were used to establish protein-protein interaction(PPI) network and its internal plug-in MCODE and Cytohubba were applied to screen key functional modules and Hub genes, then Hub genes were imported into GeneMANIA to construct Hub genes co-expression network. Finally, GO and KEGG enrichment analysis of Hub genes were performed again.Results:GSE70394 and GSE65914 data sets included three samples of AGS cells without Hp infection and three samples of AGS cells 24 hours after Hp infection, skin tissues from nineteen rosacea patients and ten healthy volunteers, respectively. Finally, 139 common DEGs were obtained including 93 up-regulated genes and 46 down-regulated genes. GO enrichment analysis mainly focused on smooth muscle cell regulation, vascular development and lipid metabolism. KEGG enrichment analysis mainly involved lipid and atherosclerosis, inflammatory response and immune-related pathways, such as PPAR signaling pathway, cytokine-cytokine receptor interaction, Th17 cell differentiation, IL-17 signaling pathway and NF-κB signaling pathway. Total of 16 Hub genes were identified by Cytohubba, including SPRR1B, GCLM, KRT16, GPX2, S100A2, SOD2, MMP1, MSMO1, HMOX1, GLRX, IL-1β, CXCL1, PPARγ, HMGCS1, SRXN1 and SPRR3.Conclusion:There is a link existing between Hp infection infection and rosacea. Hp may be involved in the occurrence and development of rosacea by mediating inflammatory immune response and regulating lipid metabolism, the selected Hub genes and related signaling pathways may provide a theoretical reference for subsequent correlation analysis.

Objective:To explore the common signaling pathways of Helicobacter pylori(Hp) infection and rosacea and screen Hub genes by bioinformatic analysis. Methods:Gene expression data sets related to Hp (GSE70394) and rosacea (GSE65914) were downloaded from GEO database. The common differentially expressed genes (DEGs) were screened by using the limma package of R and Venn diagram. Metascape database was used for gene ontology(GO) enrichment analysis, and clusterProfiler package of R was used for Kyoto encyclopedia of genes and genomes(KEGG) analysis on up-regulated and down-regulated genes. Subsequently, STRING and Cytoscape software were used to establish protein-protein interaction(PPI) network and its internal plug-in MCODE and Cytohubba were applied to screen key functional modules and Hub genes, then Hub genes were imported into GeneMANIA to construct Hub genes co-expression network. Finally, GO and KEGG enrichment analysis of Hub genes were performed again.Results:GSE70394 and GSE65914 data sets included three samples of AGS cells without Hp infection and three samples of AGS cells 24 hours after Hp infection, skin tissues from nineteen rosacea patients and ten healthy volunteers, respectively. Finally, 139 common DEGs were obtained including 93 up-regulated genes and 46 down-regulated genes. GO enrichment analysis mainly focused on smooth muscle cell regulation, vascular development and lipid metabolism. KEGG enrichment analysis mainly involved lipid and atherosclerosis, inflammatory response and immune-related pathways, such as PPAR signaling pathway, cytokine-cytokine receptor interaction, Th17 cell differentiation, IL-17 signaling pathway and NF-κB signaling pathway. Total of 16 Hub genes were identified by Cytohubba, including SPRR1B, GCLM, KRT16, GPX2, S100A2, SOD2, MMP1, MSMO1, HMOX1, GLRX, IL-1β, CXCL1, PPARγ, HMGCS1, SRXN1 and SPRR3.Conclusion:There is a link existing between Hp infection infection and rosacea. Hp may be involved in the occurrence and development of rosacea by mediating inflammatory immune response and regulating lipid metabolism, the selected Hub genes and related signaling pathways may provide a theoretical reference for subsequent correlation analysis.

Objective:To observe the changes of nutrition impact symptoms (NIS) and fat-free mass and analyze the relationship between them in patients with head and neck cancer (HNC) during radiotherapy.Methods:A convenient sampling method was adopted to select HNC patients who received radiotherapy in the outpatient clinic of department of radiotherapy for head and neck cancer in a cancer hospital in Beijing from March 2017 to January 2020. The nutrition impact symptoms (NIS) were assessed by a nutrition impact symptoms checklist and the fat free mass was assessed by bioelectrical impedance analysis at three time points: before radiotherapy (T1), during radiotherapy (T2) and at the end of radiotherapy (T3). The Generalized Estimating Equations (GEE) was used to analyze the relationship between them.Results:A total of 542 HNC patients were included in the analysis. During radiotherapy, the patients' NIS number and score presented an increasing trend, reaching the highest level and peaked at the end of radiotherapy. The change of fat-free mass showed a decreasing trend and reached the minimum at the end of radiotherapy. Patients with higher NIS scores had more percentage loss of fat-free mass.Conclusions:During radiotherapy, patients with HNC showed an increase in NIS score and lost fat-free mass. Patients with higher NIS score lost more percentage of fat-free mass, which suggested that clinical medical staff should pay attention to NIS management and take comprehensive intervention measures in time to reduce the loss of fat-free mass.

Objective: To investigate the nutritional status of children with autism spectrum disorders, and to provide a reference for improving their nutritional status. Methods: 120 children with autism spectrum disorder who were treated in the rehabilitation center of Affiliated Children s Hospital of Zhengzhou University from September 2016 to September 2018 were selected as case group,and 120 normal children in the physical examination center of the same hospital were selected as the healthy group.The children s status was assessed by using the Clancy Autism Behavior Scale(CABS), and the serum nutrients levels were compared between these two groups. Results: Compared with the healthy group,the Vitamin A[(83.44±9.20,59.45±4.42)mg/L],Vitamin B6[(64.15±11.22,32.02±5.75)mg/L],Vitamin C[(60.62±10.26,47.63±13.12)mg/L],protein[(120.45±30.51,104.46±9.38)g/L], iron[(134.25±18.16,112.17±6.02)mg/L], calcium[(72.96±10.62,66.57±4.11)mg/L], zinc[(70.85±5.76,62.52±10.66)mg/L] and folic acid[(31.38±6.77,20.29±6.26)mg/L], eicosapentaenoic acid(EPA)[(0.72±0.22,0.55±0.14)μmol/L], decosahexaenoic acid(DHA)[(1.54±0.35,1.22±0.26)μmol/L] and arachidonic acid(AA)[(5.51±0.76,5.03±0.16)μmol/L] were lower(t=25.75，27.92，8.54，5.49，12.64，6.30，7.53，13.18，7.14，8.04，6.77，P<0.05), the low body weight(49.17%,63.33%) and wasting(38.33%,46.67%) in autism spectrum disorder group were higher significantly(χ2=4.89，6.71，P<0.05). Conclusion The nutritional status of children with autism spectrum disorder is different from that of normal children. The lack of serum nutrients will lead to a high incidence of malnutrition.

Objective To describe the characteristics of radiation induced mucositis in patients withhead and neck cancer ( HNC) during radiotherapy, and analyze the effect of radiation induced mucositis on diet patterns and weight change and the influencing factors for radiation induced mucositis. Methods Patients with HNC treated with radiotherapy in one cancer hospital were recruited. Data were collected before, during and at the end of the radiotherapy, which included radiation induced oral and pharyngeal mucositis, pain during eat-ing, diet patterns and weight. Results Two hundred and two patients were completely investigated and 43.5％and 34. 2％ of the patients suffered from moderate to severe (≥grade 2) oral mucositis and pharyngeal mucosi-tis, respectively during the radiotherapy. At the end of radiotherapy, 53. 5％ and 51. 5％ of the patients suffered from moderate to severe oral mucositis and pharyngeal mucositis (≥grade 2 ) , respectively. Oral and pharyngeal mucositis were significantly correlated with pain during eating, diet patterns and weight ( P<0. 05) . Tumor site was the main reason that affected the severity of mucositis ( Wald χ2 =26. 033, 14. 216;P<0.001). Conclusion Radiation induced mucositis was gradually aggravated with radiotherapy progress, which is closely related to pain during eating, change of diet patterns and weight loss. The severity of mucositis is re-lated to the tumor site. Measures should be taken to strengthen the management of adverse reactions and nutri-tional status of patients.

Objective To evaluate the efficacy and safety of recombinant adenovirus-p53(rAdp53) injection combined with radiotherapy and hyperthermia in the treatment of unresectable advanced soft tissue sarcoma.Methods In this retrospective study, we evaluated 76 patients with unresectable advanced primary or recurrent soft tissue sarcoma treated in our hospital from November 2005 to November 2012.These patients received radiotherapy and hyperthermia with rAdp53(p53 group, n=41) or without rAdp53(control group, n=35).rAdp53((1-2)×1012viral particles each time, once a week, 8 times on average) was injected into the tumor or infused into the pelvic cavity.Radiotherapy (2 Gy each time, 5 times a week) was performed for the planning target volume at 56.3±5.3 Gy in the p53 group and 58.1±4.2 Gy in the control group, with no significant difference between the two groups (P>0.05).Superficial or deep thermotherapy was employed 8 times on average (twice a week).Clinical features, response rate, time to progression (TTP), overall survival (OS), and adverse events were compared between the two groups (P>0.05).The Kaplan-Meier method was used to calculate OS;the log-rank test was used for survival difference analysis and univariate prognostic analysis;the chi-square test was used for comparison of categorical data.Results At 2 months after treatment, the p53 group had significantly increased response rate (partial response+ complete response+ stable disease)(85% vs.54%, P=0.003) and local control rate (49% vs.23%, P=0.020) as well as prolonged TTP (12 months vs.5 months, P=0.010) and OS (48 months vs.31 months, P=0.049), as compared with the control group.No adverse events caused by radiotherapy and hyperthermia except transient fever were seen in the two groups.Conclusions Concurrent radiotherapy and hyperthermia combined with rAdp53 injection is effective and safe for patients with advanced soft tissue sarcoma.

Objective To investigate the factors affecting the vaginal birth after cesarean (VBAC). Methods Totaly 298 women who underwent trial of labor after cesarean section (TOLAC) from Jan 2015 to Dec 2015 were recruited from Beijing Obstetrics and Gynecology Hospital, FuXing Hospital, Tongzhou Maternal and Child Health Hospital of Beijing, the Second Affiliated Hospital of Chongqing Medical University and the People′s Hospital of Chengyang District of Qingdao. The maternal age, the interval from the last cesarean section, the body mass index (BMI) before pregnancy, the weight gain during pregnancy, the way into labor, the Bishop score before labor, the gestational age and the birth weight of the neonate were recorded in a self-made form. The factors affecting VBAC were analyzed by univariate analysis and multivariable logistic regression. Results (1)The incidence of VBAC, uterine rupture, postpartum hemorrhage and neonatal asphyxia were 70.5%(210/298), 2.7%(8/298), 9.4% (28/298) and 1.3% (4/298), respectively. No maternal death and perinatal death occurred. (2)The univariate analysis suggested that the maternal age, the BMI before pregnancy, the Bishop score before labor, the labor induction, the gestational age at delivery and the neonatal weight were factors affecting VBAC. The maternal age and the Bishop score before labor were significantly higher in the VBAC group than in the unsuccessful TOLAC group(P<0.05). While the BMI before pregnancy, the induction rate, the gestational weeks at delivery and the birth weight of the neonate were significantly lower in the VBAC group than in the unsuccessful TOLAC group (P<0.05). Multivariable logistic regression analysis showed that successful VBAC was affected by the maternal age, the BMI before pregnancy, the Bishop score before labor and the birth weight of the neonates(P<0.05). Conclusion The maternal age, the BMI before pregnancy, the Bishop score before labor and the birth weight of neonate are the main factors affecting VBAC.

Objective To evaluate the efficacy and safety of intravesical alkalised lidocaine therapy for the treatment of ketamine-associated cystitis. Methods From 2008 to 2009,7 cases of patients (6 males and 1 female; mean age 26 years) were admitted with severe lower urinary tract symptoms (LUTS). Three cases had painful hematuria. All cases had history of abuse ketamine. B ultrasound examination revealed marked thickness of the bladder wall and small bladder capacity. Urodynamic study were performed showing the functional bladder capacities between 20 to 100 ml(average 50 ml),Qmax between 3.7 to 10.8 ml/s, RUV between 0 to 24 ml. Urodynamic analyses showed hypersensitive bladder and decreased bladder compliance. Cystoscopy showed diffuse reddish swelling of the bladder mucosa and hemorrhagic cystitis. All patients were required to withdraw the ketamine and treated with bladder hydrodistention therapy (intravesical alkalised lidocaine with heparin). Results The biopsies of 2 patients showed bladder wall inflammation and fibrosis. LUTS was significantly relieved after bladder installation within 7 days. The functional bladder capacities increased between 150±30 ml,Qmax 11.5±3.8 ml/s. Four cases became asymptomatic. Three recurrent cases after reabused ketamin for 1 to 3 months received same intraversical treatment. All cases were followed up for 2 to 17 months. Conclusion Intravesical hydrodistention therapy with alkalised lidocaine and heparin could be the safe and effective therapy in the treatment of katamine-associated cystitis.