Objective:To explore the genetic characteristics of a child with comorbid 16p11.2 microdeletion syndrome and Rett syndrome (RTT).Methods:A male infant who was admitted to Gansu Provincial Maternity and Child Health Care Hospital in May 2020 was selected as the study subject. Clinical data of the infant was collected. Genomic DNA was extracted from peripheral blood samples from the infant and his parents, and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.Result:The patient, a 4-day-old male infant, had presented with poor response, poor intake, feeding difficulties, and deceased at 8 months after birth. WES revealed that he has harbored a 0.643 Mb deletion in the 16p11.2 region, which encompassed key genes of the 16p11.2 microdeletion syndrome such as ALDOA, CORO1A, KIFF22, PRRT2 and TBX6. His father has carried the same deletion, but was phenotypically normal. The deletion was predicted to be pathogenic. The child was also found to harbor a maternally derived c. 763C>T (p.R255X) hemizygous variant of the MECP2 gene, which was also predicted to be pathogenic (PVS1+ PS4+ PM2_Supporting). Conclusion:The 16p11.2 deletion and the MECP2: c.763C>T (p.R255X) variant probably underlay the pathogenesis in this infant.

Background Non-occupational carbon monoxide (CO) poisoning is a public health problem that seriously affect people’s health and lives. Objective To describe the prevalence of non-occupational CO poisoning during 2007—2018 in Shanghai, analyze its epidemiological characteristics and potential influencing factors, and explore effective prevention and control measures. Methods Daily reported non-occupational CO poisoning cases and meteorological factors from 2007 to 2018 were collected in Shanghai, epidemiological characteristics were analyzed by descriptive epidemiology methods, and a distributed lag nonlinear model was used to assess the association between temperature and non-occupational CO poisoning. Results A total of 2264 non-occupational CO poisoning events and 3866 cases from 2007 to 2018 were reported in Shanghai, including 59 death cases. More than half of the poisoning cases were female (56.3%), and young adults accounted for more cases than any other age group (54.8%). The poisoning events mainly occurred in winter (from December to next February); however, cases reported in summer increased in recent years. The peak period of the events was from 20:00 to 24:00. Households (85.2%) and restaurants (8.0%) were the common places of non-occupational CO poisoning events, and the main cause was improper use of gas water heater (36.9%). A nonlinear curve was found between daily average temperature of current day and the occurrence of non-occupational CO poisoning. Temperature was negatively associated with the risk of non-occupational CO poisoning when the temperature was lower than 9.6 ℃, while a positive association was found during 9.7-26.0 ℃. Conclusion Winter is a high season for non-occupational CO poisoning in Shanghai, rising cases reported in summer is also worthy of attention. Supervision should be strengthened to ban sales of unqualified gas water heaters, and health education on CO poisoning prevention and control should be conducted through multiple channels, in order to reduce the incidence of CO poisoning.

Objective:To evaluate the effect of high-flow nasal cannula (HFNC) therapy on patients with moderate acute respiratory failure.Methods:This was a randomized controlled trial. The patients with moderate acute respiratory failure in the Intensive Care Unit (ICU) of Changshu Hospital Affiliated to Soochow University from March 2019 to September 2020 were included. Patients with severe asthma or acute exacerbation of chronic respiratory failure, hemodynamic instability, disturbance of consciousness, non-invasive ventilation (NIV) contraindication, urgent need for endotracheal intubation, refusal of intubation, age <18 years and pregnancy were excluded. The patients were randomized to HFNC or NIV. Treatment failure was defined as the need for intubation and invasive ventilation. The vital signs, ROX index, blood gas analysis index, ultrasound parameters and endotracheal intubation rate were recorded at 1, 6, 12, 24 and 48 h after treatment. Kaplan-Meier method was used to draw the survival curve, and multivariate logistic regression was used to analyze the risk factors of treatment failure.Results:A total of 91 patients were included in the study, including 46 patients in the HFNC group and 45 patients in the NIV group. PaO 2/FiO 2 of the two groups were significantly increased after treatment compared with baseline ( P<0.05). The respiratory rate was lower in the NIV group than in the HFNC group at 1 and 24 h ( P<0.05). There were no significant differences in other vital signs, arterial blood gas and ultrasound parameters between the two groups (all P>0.05). The intubation rate was 52.2% in the HFNC group and 48.9% in the NIV group. Kaplan-Meier survival analysis showed that there was no significant difference in intubation rate and mortality between the two groups ( P>0.05). Multivariate logistic regression analysis showed that increased end-diastolic right ventricle/left ventricle ratio ( OR=1.044, 95% CI: 1.012~1.077) and high acute physiology and chronic health evaluationⅡ score ( OR=1.082, 95% CI: 1.006~1.163) at 0 h, lung ultrasound score ( OR=1.353, 95% CI: 1.034~1.772) and end-diastolic RV/LV ratio ( OR=1.097, 95% CI: 1.038~1.159) at 1 h were independent risk factors for non-invasive respiratory strategies failure. Increased diaphragm excursion ( OR=0.341, 95% CI: 0.165~0.704) at 0 h, high PaO 2/FiO 2 ( OR=0.929, 95% CI: 0.884~0.977), increased ROX index ( OR=0.524, 95% CI: 0.332~0.826), and increased diaphragm mobility ( OR=0.119, 95% CI: 0.030~0.476) at 1 h were independent protective factor for successful treatment. Conclusions:HFNC and NIV can improve oxygenation in patients with acute hypoxemic respiratory failure. There is no significant difference in intubation rate and mortality between HFNC and NIV. Ultrasound parameters may be helpful for predicting treatment failure.

Objective:To develop a prediction model of acute gastrointestinal injury (AGI) grading combined with qSOFA score for the diagnosis of sepsis, and evaluate its value.Methods:This was a prospective observational study. The patients with infection or suspected infection in the General Ward of Changshu Hospital Affiliated to Soochow University from September 2018 to September 2019 were included. Patients younger than 18 years, pregnant, abandoned treatment and died within 3 days after admission were excluded. Clinical characteristics, laboratory test results and AGI grading from 48 h before the infection to 24 h after the onset of infection were recorded. The patients were divided into the sepsis and non-sepsis groups according to whether they were diagnosed with sepsis. The patients were allocated randomly to a modeling cohort and a validation cohort with a ratio of 7:3. Univariate and multivariate logistic regression analyses were used to analyze the relevant risk factors for sepsis in the modeling cohort. Three types of diagnostic models were constructed in the modeling cohort: model A (qSOFA model), model B (the combined model of AGI grading and qSOFA score), and model C (the combined model of clinical parameters). The clinical usefulness of the diagnostic models was assessed by receiver operating characteristic curve (ROC), calibration curve and decision curve analysis (DCA) in the validation cohort. The nomograms were developed based on these models.Results:A total of 2 553 patients were enrolled in the study, 1 789 patients in the modeling cohort and 764 patients in the validation cohort. and 326 were diagnosed with sepsis. There was no statistical difference in the basic conditions of patients in the two groups. Univariate analysis showed that age, gender, the source of infection, temperature, heart rate, polypnea, changes in consciousness, severe edema, hyperglycemia, white blood cell, C-reactive protein and procalcitonin, hypotension, hypoxemia, acute oliguria, coagulation disorders, hyperlacticemia, capillary filling damage or piebaldskin, AGI grading and qSOFA score were significantly correlated with sepsis (all P<0.01). Multivariate logistic regression analysis showed that age ( OR=1.027, P<0.01), source of infection ( OR=2.809, P=0.03), hypotension ( OR=35.449, P<0.01), hypoxemia ( OR=57.018, P<0.01), and AGI grading ( OR=19.313, P<0.01) were significantly associated with sepsis. ROC analysis showed that the area under the curve (AUC) of model A, B and C were 0.784, 0.944 and 0.971 in the modeling cohort, and 0.832, 0.975 and 0.980 in the validation cohort, respectively. The sensitivities were 63.9%, 89.5% and 97.5% in the modeling cohort, and 72.7%, 90.9% and 96.6% in the validation cohort; and the specificities were 90.8%, 90.3% and 88.1% in the modeling cohort, and 92.2%, 94.5% and 92.8% in the validation cohort, respectively. AUC of model B and C were significantly higher than that of model A ( P<0.01). Model A in the validation cohort was poorly calibrated, with low accuracy and high risk of missed sepsis diagnosis ( P=0.044). The net benefits of model B and C were better than that of model A. Conclusions:AGI grading combined with qSOFA score has a high predictive value and accuracy in the diagnosis of sepsis.

Objective:To evaluate the clinical efficacy of human-like collagen scar repair gel in the treatment of proliferative hypertrophic scar.Methods:The clinical effect of smear-like silicone ointment on patients with hypertrophic scars after prolonged injury or 4-6 months after surgery, the difference of curative effects between 3-18 years old juvenile group and 19-45 years old adult group, were analyzed by multicenter randomized controlled clinical study. Among them, 58 cases were treated with human-like collagen scar repair gel, 39 cases in adult group and 19 cases in minor group; 30 cases were using Silicone Gel, 20 cases in adult group and 10 cases in minor group. The differences in scar color, thickness, blood vessel distribution, softness, patient's self-conscious symptoms, clinical efficacy scores and adverse reactions were analyzed before and after application of the products at 4, 8, 12 and 24 weeks.Results:The scores of the two groups before treatment were slightly higher than those of the control group except the softness and thickness score test group ( P<0.05). There was no significant difference in the remaining parameters ( P>0.05). The efficacy scores at the 4th, 8th, 12th and the 24th week after application of the two groups showed that there were significant differences in the therapeutic indicators after treatment for different time ( P<0.05) and age grouping. There was no significant difference between juvenile group and adult group ( P>0.05). There was a statistically significant difference in the time points of different clinical evaluation scores ( P<0.05). There was no interaction between the evaluation time and the experimental control group and age group ( P>0.05); and not affected by group or age grouping ( P>0.05), no adverse reactions occurred in either group. Conclusions:Human-like collagen scar repair gel is safe and effective in the treatment of proliferative hypertrophic scar, and the clinical efficacy is not inferior to Silicone gel.

Objective:To evaluate the clinical efficacy of human-like collagen scar repair gel in the treatment of proliferative hypertrophic scar.Methods:The clinical effect of smear-like silicone ointment on patients with hypertrophic scars after prolonged injury or 4-6 months after surgery, the difference of curative effects between 3-18 years old juvenile group and 19-45 years old adult group, were analyzed by multicenter randomized controlled clinical study. Among them, 58 cases were treated with human-like collagen scar repair gel, 39 cases in adult group and 19 cases in minor group; 30 cases were using Silicone Gel, 20 cases in adult group and 10 cases in minor group. The differences in scar color, thickness, blood vessel distribution, softness, patient's self-conscious symptoms, clinical efficacy scores and adverse reactions were analyzed before and after application of the products at 4, 8, 12 and 24 weeks.Results:The scores of the two groups before treatment were slightly higher than those of the control group except the softness and thickness score test group ( P<0.05). There was no significant difference in the remaining parameters ( P>0.05). The efficacy scores at the 4th, 8th, 12th and the 24th week after application of the two groups showed that there were significant differences in the therapeutic indicators after treatment for different time ( P<0.05) and age grouping. There was no significant difference between juvenile group and adult group ( P>0.05). There was a statistically significant difference in the time points of different clinical evaluation scores ( P<0.05). There was no interaction between the evaluation time and the experimental control group and age group ( P>0.05); and not affected by group or age grouping ( P>0.05), no adverse reactions occurred in either group. Conclusions:Human-like collagen scar repair gel is safe and effective in the treatment of proliferative hypertrophic scar, and the clinical efficacy is not inferior to Silicone gel.

Objective: To explore the related factors of death from severe heat stroke in Shanghai from 2013 to 2017. Methods: The data of 1 152 patients with severe heat stroke who were divided into survival (n=1 037) and death (n=115) groups including gender, age and heat stroke type (heat cramp, heat exhaustion, heat apoplexy and the mixed type) were collected from meteorological bureau and case report system for high temperature heat stroke in Shanghai from 2013 to 2017. Meanwhile, the meteorological data of the onset date of severe heat stroke cases were collected, including maximum temperature, minimum temperature, daily temperature, relative humidity, air pressure, precipitation and wind speed. The differences of individual and meteorological factors between the two groups were compared, and multivariate logistic regression model was used to analyze the related factors of death from severe heat stroke. Results: Among 1 152 cases, the mean±SD of age was (56.29±18.95) years old, 843 (73.18%)were male, 962 (83.51%) were in the heat wave period; 322 cases (27.95%) were heat cramp, 170 cases (14.76%) were heat exhaustion, 533 cases (46.27%) were heat apoplexy and 114 cases (9.90%) were the mixed type. Daily average temperature ((32.81±1.99) ℃), daily maximum and minimum temperatures ((38.20±2.24) ℃ and (29.22±1.94) ℃) in survival group were lower than those in death group (all P values<0.001), which were (33.76±1.17) ℃, (39.19±1.31) ℃ and (29.72±1.66) ℃. Daily average relative humidity ((60.36±9.75)%) and daily minimum relative humidity ((41.26±9.71)%) in survival group were higher than those in death group(allP values <0.05), which were (54.59±6.89)% and (35.60±7.24)%. The results of logistic regression analysis suggested that compared with the cases with daily average humidity <60% and a mixed type heat stroke, the death OR (95%CI) values of cases with daily average humidity >60%, heat cramp, heat exhaustion and heat apoplexy were 0.31 (0.18,0.54), 0.13 (0.05,0.34), 0.68 (0.58,2.30) and 0.87 (0.48,1.58). Conclusion The temperature, relative humidity and the type of heat stroke were the main related factors affecting the prognosis of severe heat stroke.

Objective: To investigate the effect of corticotomy-facilitated orthodontics on the treatment time and final outcome in skeletal class Ⅱ division 1 patients. Methods: Twenty adult skeletal class Ⅱ division 1 patients treated with two maxillary first premolar extractions were included and randomly divided into two groups (the corticotomy group and the control group). The treatment time was recorded and the changes of soft and hard tissue were compared by using three-dimensional measurement and analysis of cone-beam CT images before and after treatment. Results: There was no significant difference in the alignment time between two groups, while the time of maxillary space closure and the total treatment time in corticotomy group ([5.8±1.3] and [24.9±5.1] months, respectively) were shorter than that in the control group ([9.9±1.1] and [30.8±4.6] months, respectively) and the differences were significant (P<0.01). In the corticotomy group, the retraction amount of the upper central in cisal margin, apical tip, supradentale, labrale superius and the increase of nasolabial angle were greater than those in the control group (P<0.05). Conclusions In patients with mild to moderate skeletal class Ⅱ division 1 malocclusion, corticotomy-facilitated orthodontics can not only shorten the treatment time, but is more conductive to the retraction of upper anterior teeth and improvement of the profile.

Objective:To investigate the effects of corticotomy assisted orthodontic treatment for mild skeletal Class Ⅱ malocclusion. Methods:7 adult patients with mild skeletal Class Ⅱ division 1 malocclusion were included and underwent corticotomy assisted ortho-dontic treatments.3D measurements and analysis of CBCT data before and after treatment were conducted.Results:The average dura-tion of upper anterior teeth retraction was 3.2 months.After treatment,obvious retraction of up incisiors with the retraction of maxillary alveolar bone and the upper lip backward and downward movement were observed.Conclusion:Corticotomy assisted orthodontic treat-ment is effective in the treatment of mild skeletal Class Ⅱ malocclusion by the retraction of uper anterior teeth,alveolarar bone and soft-tissue profile improvement.

Objective To investigate the influence of stigma on QOL of patients with mental disorders.Methods By using Link stigma series scale and schizophrenic quality of life scale,we assessed and analyzed 406 psychiatric patients′stigma and QOL, as well as the correlation and influence between them.Results The score of perceived devaluation-discrimination dimension of the stigma scale had positive correlation with total score of QOL,score of psycho-social dimension and score of motivation and energy dimension (P <0.05).The scores of challenge dimension and separation dimension in the stigma scale had positive correlation with motivation and energy dimension of the QOL scale (P <0.05).Regression analysis showed that stigma did not have influence on QOL of patients with mental disorders.Conclusion Stigma in psychiatric patients has no significant influence on QOL,but correla-tion relationship exists between them.The higher score of perceived devaluation-discrimination dimension,challenge dimension and separation dimension of stigma scale,the poor QOL the patient would have.