Objective:To summarize the clinical phenotype and genetic characteristics of a case of autosomal dominant mental retardation-42 (MRD42) caused by GNB1 gene mutation. Methods:The clinical and genetic data of a case of MRD42 caused by a GNB1 gene missense mutation diagnosed in the Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University in March 2023 were retrospectively analyzed. The child was followed-up, the child′s data were summarized, and related literature was reviewed. Results:The patient is a 6-month-old female infant, who was admitted to hospital because of "developmental delay for 3 months, intermittent convulsions for 1 month". The clinical manifestations included generalized tonic-clonic seizures, focal seizures, intellectual disability, delayed language and motor development. Long-term video electroencephalogram showed slightly slower background activity, bilateral occipital spike and wave discharges, multispike and wave complexes during sleep. Three focal onset seizures were captured. Cranial magnetic resonance imaging suggested that the subarachnoid space of the bilateral frontotemporal areas was slightly wide. Chromosome karyotype and copy number variation analysis showed no abnormality. The results of whole exon sequencing showed a de novo heterozygous missense mutation in the GNB1 gene [NM_002074:c.155(exon5)G>A;p.Arg52Gln], which had not been reported. The seizure was effectively controlled by function rehabilitation training and anti-epileptic drug therapy. Conclusions:MRD42 is a rare autosomal dominant disorder caused by mutation in the GNB1 gene. The clinical manifestations include infantile-onset seizures, mental retardation, speech and motor development delay, etc. The de novo heterozygous missense mutation in the GNB1 gene c.155G>A(p.Arg52Gln) is the genetic cause of the proband.

Objective:To evaluate the effect of inhaled aerosolized budesonide and salbutamol on lung function during one-lung ventilation (OLV) in rabbits.Methods:Thirty-two healthy male New Zealand white rabbits, aged 5-6 months, weighing 2.5-3.0 kg, were randomized into 4 groups ( n=8 each) using a random number table method: two-lung ventilation (TLV) group, OLV group, inhalation of aerosolized budesonide group (group B) and inhalation of aerosolized budesonide and salbutamol group (group B+ S). Bilateral lungs were ventilated for 3 h in group TLV, the left lung was ventilated for 2 h followed by 1-h TLV in OLV, B and B+ S groups, aerosolized budesonide 1 mg (diluted to 2 ml in normal saline) was inhaled before OLV in group B, and aerosolized salbutamol 0.15 mg/kg plus budesonide 0.5 mg was inhaled before OLV in group B+ S.The equal volume of aerosolized normal saline was delivered in TLV and OLV groups.Volume-controlled ventilation was used in all groups.Arterial blood samples were obtained for blood gas analysis before aerosol inhalation (T 0), 15 min and 1 h after aerosol inhalation (T 1, 2), and at the end of ventilation (T 3). Oxygenation index was calculated.Mixed venous blood samples were collected to determine the corresponding parameters.The pulmonary shunt (Qs/Qt) was calculated.Peak airway pressure (P peak), airway platform pressure (P plat), airway resistance (Raw), and lung compliance (C dyn) were continuously monitored and recorded at T 0-T 3. Results:Compared with group TLV, the concentration of lactic acid was significantly increased at T 2, 3, oxygenation index and C dyn were decreased at T 1-3, and Qs/Qt, Raw, P plat and P peak were increased in OLV, B and B+ S groups ( P<0.05). Compared with group OLV, the concentration of lactic acid was significantly decreased at T 2, 3, oxygenation index and C dyn were increased at T 1-3, and Qs/Qt, Raw, P plat and P peak were decreased in B and B+ S groups ( P<0.05). Compared with group BD, the C dyn was significantly increased at T 1-3, and Qs/Qt, Raw and P peak were decreased in group B+ S ( P<0.05). Conclusion:Inhaled aerosolized budesonide and salbutamol can effectively improve lung function during OLV in rabbits.

Objective To evaluate the effect of ixeris sonchifolia pretreatment on the expression of hypoxia-inducible factor-1α(HIF-1α)following myocardial injury induced by exhausting exercise in rats.Methods Fifty-six healthy clean-grade male Wistar rats,weighing 200-220 g,were divided into 3 groups using a random number table method: control group(group C,n＝8),exhausting exercise group(group E,n＝24)and ixeris sonchifolia pretreatment group(group IS,n＝24).In E and IS groups,the model of myocardial injury was established by exhausting swimming.In group IS,the rats were subjected to exhaust-ing swimming after intraperitoneal ixeris sonehifolia 20 ml/kg.In E and IS groups,blood samples were taken from the inferior vena cava at 0,6 and 24 h after exhaustion(T1-3)for determination of serum cardiac tro-ponin I(cTnI)concentrations by enzyme-linked immunosorbent assay.The animals were sacrificed after an-esthesia,and myocardial specimens were obtained for determination of the cell apoptosis index(by TUNEL)and expression of HIF-1α,Bax and Bcl-2(by immunohistochemistry),and Bax/Bcl-2 ratio was calculated.The area of myocardial injury was observed using HBFP assay.Results Compared with group C,the area of myocardial injury,concentration of serum cTnl,Bax/Bcl-2 ratio and apoptosis index were significantly in-creased,and the expression of HIF-1α in myocardial tissues was up-regulated at each time point in E and IS groups(P＜0.05).Compared with group E,the area of myocardial injury,concentration of serum cTnl,Bax/Bcl-2 ratio and apoptosis index were significantly decreased,and the expression of HIF-1α in myocardi-al tissues was down-regulated at each time point in group IS(P＜0.05).Conclusion The mechanism by which ixeris sonchifolia pretreatment mitigates myocardial injury induced by exhausting exercise is related to inhibiting up-regulated expression of HIF-1α in myocardial tissues and reducing cell apoptosis in rats.

To analyze the associated factors of signing behavior of the smart medical service model in Hangzhou, 500 residents aged 18 years and older who signed the smart medical service and 500 unsigned residents were randomly selected from 5 urban districts of Hangzhou city from 19 to 26, July 2016. The social-demographic characteristics, chronic disease, health-seeking behavior, kinds of medical insurance were investigated by face-to-face interview. The results showed that there were significant differences in educational level, self-rated health status, chronic disease, seeking behavior and type of medical insurance, while there were no significant differences in gender and age between the signed group and the non-signed group. Logistic regression analysis revealed that residents with higher education level (OR=1.226, 95%CI: 1.118-1.344, P<0.01) and having more chronic diseases (OR=1.854, 95%CI: 1.524-2.257, P<0.01) preferred to sign the service contract. The main reasons for unwillingness of signing contract were " the service was not suitable for me" (17.0%, 61/359), "I didn′t know the specific content of the service" (16.7%,60/359), "the signing procedure was complicated" (15.0%, 54/359). In conclusion, different communication strategies should be adopted considering residents with different educational level and chronic diseases. And delivery of detailed information, simplification of signing process will promote to popularize this smart medical service.

Objective: To evaluate the effect of ixeris sonchifolia pretreatment on the expression of hypoxia-inducible factor-1α (HIF-1α) following myocardial injury induced by exhausting exercise in rats. Methods: Fifty-six healthy clean-grade male Wistar rats, weighing 200-220 g, were divided into 3 groups using a random number table method: control group (group C, n=8), exhausting exercise group (group E, n=24) and ixeris sonchifolia pretreatment group (group IS, n=24). In E and IS groups, the model of myocardial injury was established by exhausting swimming.In group IS, the rats were subjected to exhausting swimming after intraperitoneal ixeris sonehifolia 20 ml/kg.In E and IS groups, blood samples were taken from the inferior vena cava at 0, 6 and 24 h after exhaustion (T_1-3) for determination of serum cardiac troponin I (cTnI) concentrations by enzyme-linked immunosorbent assay.The animals were sacrificed after anesthesia, and myocardial specimens were obtained for determination of the cell apoptosis index (by TUNEL) and expression of HIF-1α, Bax and Bcl-2 (by immunohistochemistry), and Bax/Bcl-2 ratio was calculated.The area of myocardial injury was observed using HBFP assay. Results: Compared with group C, the area of myocardial injury, concentration of serum cTnl, Bax/Bcl-2 ratio and apoptosis index were significantly increased, and the expression of HIF-1α in myocardial tissues was up-regulated at each time point in E and IS groups (P<0.05). Compared with group E, the area of myocardial injury, concentration of serum cTnl, Bax/Bcl-2 ratio and apoptosis index were significantly decreased, and the expression of HIF-1α in myocardial tissues was down-regulated at each time point in group IS(P<0.05). Conclusion The mechanism by which ixeris sonchifolia pretreatment mitigates myocardial injury induced by exhausting exercise is related to inhibiting up-regulated expression of HIF-1α in myocardial tissues and reducing cell apoptosis in rats.

Objective: To evaluate the effects and clinical application of molar intrusion with a new mandibular molar intrusion appliance. Methods : 7 patients who needed mandibular molars intrusion to correct open-bite were selected. To evaluate effects of molar intrusion, clinical examination, dental model analysis and aphalometric analysis by Winceph 7.0 software were used before and after intrusion treatment, SPSS 17.0 software was used for data analysis. Results : All the mandibular molars were intruded successfully in an average time of 4.0 months. Cephalometric analysis before and after treatment showed that the average amount of mandibular first molars intrusion were (1.92 ± 0.44) mm．The vertical distance to the reference plane (MP plane) per and post treatment was statistically significant (P < 0.05). The average amount of maxillary first molar intrusion was (0.36 ± 0.25) mm, with no significant difference in vertical distances to reference plane (PP plane) (P > 0.05). No signs of root resorption was obsersed in radiograph of the intruded mandibular molars. Conclusion The new mandibular molar intrusion appliance has a remarkable clinical effect in correcting anterior open bite without obvious periodontal tissue damage and root resorption. teeth intrusion with the new appliance has a significant effect without apparent destruction of the periodontal tissue and root resorption.

Objective To study the CT and MR characteristic features of the respiratory epithelial adenomatoid hamartoma of olfactory clefts. Methods (1)The CT and MRI findings of 29 patients with histologically proved respiratory epithelial adenomatoid hamartoma in the olfactory clefts were retrospectively reviewed.All patients underwent CT and 8 of them underwent MRI. Location, CT and MRI features, and associated findings of the disease were reviewed;(2)The CT findings, olfactory clefts width, total nasal distance, and the ratio of OC to the total nasal distance of the case patients (29 cases) and the control patients (33 patients with sinusitis) were compared to investigate the correlation of the olfactory clefts distance and the incidence of respiratory epithelial adenomatoid hamartoma in olfactory clefts. Results All patients were associated with sinusitis, and 23 had sinonasal polyps, 1 had papilloma. On nonenhanced CT, the OC lesions with the OC widening were isodense to gray matter in all cases, and the lesions caused the adjacent bony expansion and absorption rather than erosion; 15 cases were bilateral diseases and 14 were unilateral;The olfactory clefts width of the case patients and the control patients were (1.03±0.24) cm, (0.71± 0.17) cm, respectively. There was statistically significant difference (t=4.963, P<0.01) for the olfactory clefts width between the case patients and the control patients, and there was no significant difference (t=1.640, P>0.05) for the total nasal distance, and was significant difference(t=6.029,P<0.01)in the ratio of OC to the total nasal distance between the two groups. On T1WI, the disease appeared isointense in 6 patients and slightly hypointense in 2 patients compared with gray matter. On T2WI, the lesions revealed heterogeneous isointense in all patients. Regular cribriform pattern was found on MR T2WI and enhanced TlWI. Conclusions The unilateral or bilateral olfactory cleft opacification in chronic sinusitis patients with or without sinonasal polyposis, with involved OC widening and the adjacent bony walls compressed and remodeled may highly suggests the presence of REAH in the OC. The lesions showed inhomogeneous isointense signal on T2WI images, regular cribriform pattern enhancement are typical imaging feature of this entity.

Objective To assess the association between the concentration of the air pollutant PM2.5 and daily outpatient visits for respiratory disease. Methods All records of daily outpatient visits to three hospitals in Shenzhen from January 1 to December 31, 2013 were collected. Daily air pollution monitoring and meteorology data from the same period were also collected in Shenzhen. The data were analyzed using a semiparametric generalized additive model with Poisson distribution of time series analysis controlling for long-term and seasonal trends, flu, DOW, public holidays, and meteorological factors. The excess risk (ER) of respiratory disease and its 95%CI value were calculated, along with the incremental increase of 10 μg/m3 in PM2.5 concentration. Results Number of outpatient visits for respiratory diseases totaled 1 428 672 (daily range:1 790-5 228). The annual average PM2.5 concentration was 40.2μg/m3 (daily range:7.2-137.1μg/m3). The lag1 factor had the most significant impact on the lag effect. We estimated that a 10 μg/m3 increase in day-before PM2.5 concentration was associated with a 1.809% (95% CI:1.709%-1.909%) ER of visits for respiratory disease. After controlling for other pollutants (NO2, CO, and O3), the effect remained stable. When NO2, CO, and O3 were introduced separately, for every 10μg/m3 rise in PM2.5 concentration, the excess risk of daily outpatient visits for respiratory disease was 1.814% (95% CI:1.706%-1.923%), 2.780% (95% CI: 2.668%-2.892%), and 1.513% (95% CI: 1.403%-1.624%), respectively. With simultaneous control of NO2 and O3, NO2 and CO, and CO and O3, for every 10μg/m3 rise in PM2.5 concentration, the excess risk of respiratory disease was 1.369% (95% CI: 1.242%-1.497%), 2.709% (95% CI: 2.590%- 2.828% ), and 2.577% (95% CI: 2.452%- 2.702% ), respectively. With simultaneous control of NO2, CO, and O3, for every 10μg/m3 rise in PM2.5 concentration, the excess risk of respiratory disease was 2.370% (95% CI: 2.231%-2.509%). Conclusions PM2.5 can increase the risk of outpatient visits for respiratory disease in Shenzhen.

Objective To assess the association between the concentration of the air pollutant PM2.5 and daily outpatient visits for respiratory disease. Methods All records of daily outpatient visits to three hospitals in Shenzhen from January 1 to December 31, 2013 were collected. Daily air pollution monitoring and meteorology data from the same period were also collected in Shenzhen. The data were analyzed using a semiparametric generalized additive model with Poisson distribution of time series analysis controlling for long-term and seasonal trends, flu, DOW, public holidays, and meteorological factors. The excess risk (ER) of respiratory disease and its 95%CI value were calculated, along with the incremental increase of 10 μg/m3 in PM2.5 concentration. Results Number of outpatient visits for respiratory diseases totaled 1 428 672 (daily range:1 790-5 228). The annual average PM2.5 concentration was 40.2μg/m3 (daily range:7.2-137.1μg/m3). The lag1 factor had the most significant impact on the lag effect. We estimated that a 10 μg/m3 increase in day-before PM2.5 concentration was associated with a 1.809% (95% CI:1.709%-1.909%) ER of visits for respiratory disease. After controlling for other pollutants (NO2, CO, and O3), the effect remained stable. When NO2, CO, and O3 were introduced separately, for every 10μg/m3 rise in PM2.5 concentration, the excess risk of daily outpatient visits for respiratory disease was 1.814% (95% CI:1.706%-1.923%), 2.780% (95% CI: 2.668%-2.892%), and 1.513% (95% CI: 1.403%-1.624%), respectively. With simultaneous control of NO2 and O3, NO2 and CO, and CO and O3, for every 10μg/m3 rise in PM2.5 concentration, the excess risk of respiratory disease was 1.369% (95% CI: 1.242%-1.497%), 2.709% (95% CI: 2.590%- 2.828% ), and 2.577% (95% CI: 2.452%- 2.702% ), respectively. With simultaneous control of NO2, CO, and O3, for every 10μg/m3 rise in PM2.5 concentration, the excess risk of respiratory disease was 2.370% (95% CI: 2.231%-2.509%). Conclusions PM2.5 can increase the risk of outpatient visits for respiratory disease in Shenzhen.

Objective To evaluate the effects of curcumin pretreatment on the expression of Nrf2 protein during ventilator-induced lung injury in rabbits.Methods Twenty-four healthy male New Zealand white rabbits,aged 3-6 months,weighing 2.5-3.0 kg,were randomized into 3 groups (n =8 each) using a random number table:two-lung ventilation (TLV) group; one-lung ventilation (OLV) group; and curcumin pretreatment group (group Cur).In group Cur,curcumin 40 mg/kg (dissolved in 2 ml of 1％ sodium carboxymethylcellulose) was given via a gastric tube into the stomach twice a day for 7 consecutive days starting from 7 days before ventilation,while the equal volume of sodium carboxymethylcellulose was given via a gastric tube instead of curcumin in TLV and OLV groups.All the rabbits were tracheostomized,and a tracheal tube was inserted to perform TLV in TLV group,and a tracheal tube was inserted into the right bronchus to establish OLV in OLV and Cur groups.Volumecontrolled ventilation was used in the three groups and the ventilatory parameters were regulated to maintain SpO2 ＞ 90 ％.Immediately before beginning of ventilation (T0) and at 1,2 and 3 h of ventilation (T1-3),arterial blood samples were obtained for blood gas analysis and determination of PaO2.The oxygenation index was calculated.At the end of ventilation,the rabbits were sacrificed and right lungs were removed for determination of wet/dry lung weight ratio (W/D ratio).The right lower lobe was isolated and puhmonary specimens were obtained for determination of malondialdehyde (MDA) content and superoxide dismutase (SOD) activity (using colorimetric method) and the expression of Nrf2 and HO-1 protein (by Western blot) in lung tissues and for microscopic examination of pathological changes of the lung which were scored.Results Compared with group TLV,the W/D ratio,pathological scores,MDA content,and expression of Nrf2 and HO-1 were significantly increased,and the SOD activity and oxygenation index at T2,3 were decreased in OLV and Cur groups (P ＜ 0.05).Compared with group OLV,the W/D ratio,pathological scores,and MDA content were significantly decreased,and the SOD activity,oxygenation index at T3,and expression of Nrf2 and HO-1 were increased in group Cur (P ＜ 0.05).Conclusion Curcumin pretreatment reduces ventilator-induced lung injury through promoting the expression of Nrf2 protein in lung tissues in rabbits.