Objective:To investigate the efficiency of biochemical screening and hotspot gene screening in the detection of neonatal inherited metabolic diseases.Methods:This was a prospective multi-center study.The study was carried out on 21 442 neonatal samples collected from 12 hospitals in 10 provinces from November 2020 to November 2021.The results of biochemical screening and hotspot gene screening were analyzed jointly.Biochemical screening methods included glucose-6-phosphate dehydrogenase deficiency enzyme activity assay and neonatal tandem mass spectrometry.Genetic screening analysis involved 135 genes associated with 75 neonatal diseases.Results:Of all the 21 442 neonates enrolled in the study, 21 205 were subject to biochemical screening.A total of 813 cases were positive in the initial screening, and 0.45% of them (95 cases) were diagnosed after recall.All the 21 442 neonates underwent gene screening.About 168 positive cases were detected in the initial screening, and 0.73% (156 cases) of them were confirmed finally.Biochemical and genetic screening improved the detection sensitivity of such diseases as primary carnitine deficiency, neonatal intrahepatic cholestasis caused by citrin deficiency, and 2-methylbutyrylglycinemia.Moreover, biochemical and genetic screening enabled the detection of more diseases, including the common single-gene genetic diseases such as thalassemia and Wilson disease.Conclusions:In neonatal screening, the combination of biochemical screening and gene screening expands the number of diseases detected and improve screening efficiency.

Objective:To investigate the effect of chimney stent for reconstruction of left subclavical artery (LSA) in thoracic endovascular aotic repair (TEVAR) for acute Stanford type B aortic dissection with insufficient anchorage zone and non-thrombotic false lumen.Methods:TEVAR with chimney stent for LSA in 39 cases of acute Stanford type B aortic dissection with insufficient anchorage zone and non-thrombotic false lumen was done from Feb 2013 to Jan 2021.Results:Covered chimney stents was used in 11 cases and bare chimney stents in 28 cases. There was no postoperative stroke, left upper limb ischemia, paraplegia, hemiplegia and death. No stent migration, reverse tear and dissection rupture were observed. One bare stent was obstructed after 18 months, and all the remaining stents were patent during follow-up. The rate of immediate type Ⅰa endoleak in covered chimney stent group and bare chimney stent group were 0(0/11) and 32.1%(9/28) respectively ( P=0.04). The distance from proximal tear to LSA in covered chimney stent group, endoleak subgroup and non-endoleak subgroup in bare chimney stent were (5.1±2.3)mm, (14.4±5.2)mm and (7.8±7.0)mm respectively ( P<0.05). False lumen thrombosis was formed in endoleak subgroup 2-8 weeks after operation, and endoleak disappeared. Conclusions:There is a correlation between immediate type Ⅰa endoleak in bare chimney stent for LSA and the distance from proximal tear to LSA, covered chimney stent can reduce the incidence of immediate type Ⅰa endoleak in TEVAR for acute Stanford type B aortic dissection with insufficient anchorage zone and non-thrombotic false lumen.

Antineoplastic Combined Chemotherapy Protocols/therapeutic use* ; Disease-Free Survival ; Etoposide ; Hematopoietic Stem Cell Transplantation ; Humans ; Lymphoma/therapy* ; Neoplasm Recurrence, Local ; Retrospective Studies ; Transplantation, Autologous

Objective To compare the different pathological type of renal tumor,clinical epidemiology,imaging and pathological features,summarize its value in the diagnosis of renal tumor.Methods The clinical data of 2198 patients who underwent surgical treatment in our hospital due to renal tumors from January 2010 to January 2019 were retrospectively analyzed.There were 1 404 males and 794 females with an average age of (56.5 ± 11.7) years old.The clinical epidemiology,image features and pathological features were compared.Results Among them,the pathological results concluded 1 891 cases of renal clear cell carcinoma (86.0％),112 cases of papillary renal cell carcinoma (5.1％),76 cases of chromophobe cell carcinoma (3.5％),23 cases of multilocular cystic renal tumors with low malignant potential (1.0％),13 cases of Xp11.2 translocation carcinoma (0.6％),4 cases of collecting duct carcinoma (0.2％),58 cases of anadipotic angiomyolipoma (2.6％),18 cases of acidophiloma (0.8％),and 3 cases of metanephric adenoma (0.1％).The overall differences in age and gender among patients with renal tumors of different pathological types were statistically significant (F =13.8,P ＜ 0.05;x2 =20.5,P ＜ 0.05),Xpl 1.2-translocated carcinoma had the lowest mean age of onset,which was (44.9 ± 17.1 years old).The percentage of women with anadipotic angiomyolipoma was higher (41,70.7％),and the percentage of men with clear cell carcinoma and papillary renal cell carcinoma was higher (1 253,66.3％) and(77,68.8％).There was no statistically significant difference in side sex and clinical manifestations among patients with different pathological types of renal tumors (x2 =16.27,P ＞ 0.05).No significant difference in the distribution of left and right side,the clinical manifestations were mainly sporadic (x2 =19.63,P ＞ 0.05).The results of renal tumors ultrasound ith different pathological types showed statistically significant difference (x2 =67.l,P ＜ 0.05).Hyperechoic (20,34.5％) and mixed echogenicity (16,27.6％) were the main manifestations of lipoma.Multilocular cystic renal tumors with low malignant potential were mostly cystic and solid mixed echogenicity (14,60.9％).CT values of renal tumors of different pathological types at all stages showed statistically significant differences (P ＜ 0.05).The CT values of clear cell carcinoma at the arterial phase of CT enhanced scan were significantly higher than those of other types of tumors (F =11.6,P ＜ 0.05),but decreased significantly in the parenchymal phase,showing the enhancement characteristics of "fast in and fast out".The CT values of papillary cell carcinoma in the third phase of enhanced scan were all lower than those of clear cell carcinoma and chromophobe cell carcinoma (P ＜ 0.05),showing a "progressive enhancement".The enhancement effect of chromophobe cell carcinoma is somewhere in between.The CT value on plain scan of anadipotic angiomyolipoma was higher than that of clear cell carcinoma,and the enhancement was followed by continuous enhancement,showing the characteristics of "fast in and slow out".The majority of clear cell carcinoma and papillary cell carcinoma were tan section (1 235,72.55％;51,52.13％).The grey-white section was the most common type of adipogenic angiomyolipoma (21,40.4％).Conclusions The epidemiological characteristics,imaging and pathological features of renal tumors of different pathological types have certain characteristics,especially the enhanced CT features of renal clear cell carcinoma,papillary renal cell carcinoma,chromophobe cell carcinoma and anadipotic angiomyolipoma,which are of certain value for the differential diagnosis of renal tumors of different pathological types.

Objective Aims to reduce the hidden risks of laboratory biosafety,understand the status of biosafety laboratory record filing situations in Shenzhen,and also to provide scientific basis for further standardizing the management of biosafety laboratory in Shenzhen.Methods In 2017,75 laboratories in Shenzhen completed record filing were surveyed,method ologies adopted including application materials review,phone call consultation and communication,carrying out corrective ac tions based on feedback peer review suggestions and finally complete the record filing.Results The first/second level laborato ry of biosafety in shenzhen is mainly public medical institutions,followed by private hospitals.In 2017,the first three recordfiling LABS were Futian district,nanshan district and longgang district.According to the data analysis,lack of the second category of pathogenic microorganism laboratory activity project risk assessment report,and laboratory layout diagram function partition is not clear were two of the more prominent problems in the software and hardware of laboratory management respectively.Conclusions Basically,the overall record filing of Shenzhen biosafety laboratory is good,however,more measurements should be developed to deal with identified problems to further strengthen the standardized management of laboratory biosafety.

Delivery of follistatin (FST) represents a promising strategy for both muscular dystrophies and diabetes, as FST is a robust antagonist of myostatin and activin, which are critical regulators of skeletal muscle and adipose tissues. FST is a multi-domain protein, and deciphering the function of different domains will facilitate novel designs for FST-based therapy. Our study aims to investigate the role of the N-terminal domain (ND) of FST in regulating muscle and fat mass in vivo. Different FST constructs were created and packaged into the adeno-associated viral vector (AAV). Overexpression of wild-type FST in normal mice greatly increased muscle mass while decreasing fat accumulation, whereas overexpression of an N terminus mutant or N terminus-deleted FST had no effect on muscle mass but moderately decreased fat mass. In contrast, FST-I-I containing the complete N terminus and double domain I without domain II and III had no effect on fat but increased skeletal muscle mass. The effects of different constructs on differentiated C2C12 myotubes were consistent with the in vivo finding. We hypothesized that ND was critical for myostatin blockade, mediating the increase in muscle mass, and was less pivotal for activin binding, which accounts for the decrease in the fat tissue. An in vitro TGF-beta1-responsive reporter assay revealed that FST-I-I and N terminus-mutated or -deleted FST showed differential responses to blockade of activin and myostatin. Our study provided direct in vivo evidence for a role of the ND of FST, shedding light on future potential molecular designs for FST-based gene therapy.
Activins ; Animals ; Follistatin* ; Genetic Therapy ; In Vitro Techniques ; Mice ; Muscle Fibers, Skeletal ; Muscle, Skeletal ; Muscular Dystrophies ; Myostatin ; Negotiating

Objective To investigate the sedative effects of different doses of dexmedetomidine with mid-azolam in spinal anesthesia. Methods 130 cases of spinal anesthesia were randomly divided into 2 groups,group D1 and group D2,with 65 cases in each group. Patients in 2 groups were given midazolam and dexmedetomidine with different doses. The heart rates ,blood pressure ,SpO2 ,Narcotrend value and Ramsay sedation scores were recorded at mutiple time points. The working time ,maintaining time of sedative effect ,and adverse reactions were compared between 2 groups. Results MAP,HR and NT decreased significantly in 2 groups(P < 0.05,respec-tively). The keeping time was relatively longer in group D1 compared with group D2(P<0.05). The working time was faster in group D2 compared with group D1. The rate of bradycardia in group D2 was relatively higher than that in group D1. Conclusion Good sedative effect can be obtained by drug in 2 groups. Group D1,with midazolam 0.05 mg/kg+dexmedetomidine 0.3μg/kg,may have a certain advantage in anaesthesia in the spinal canal.

Objective: To discuss the pathogenesis,clinical manifestations,diagnosis,differential diagnosis, treatment,and prognosis of the patient with rituximab (RTX)-induced interstitial lung disease (ILD) (RTX-ILD).Methods:A male patient aged 19 years old was confirmed as classical Hodgkin's lymphoma more than 2 years ago,and received autologous hemopoietic stem cell transplantation (HSCT)when the disease recurred 1 year ago.Two months after HSCT,the maintenance chemotherapy was given every month with 375 mg· m-2 RTX,but the mediastinal recurrence appeared during the period,then the mediastinal residual lesion radiotherapy was done for 10 times.However,8 d after the third RTX chemotherapy,the patient experienced post-exercising tachypnea,fever,cough,chest congestion,and limb weakness.The chest CT scanning results suggested ground gloss opacity on both lungs,and blood gas analysis suggested a hypoxemia.Neither antibacterial nor antifungal treatment worked well.Afterwards,the sequential etiological examination showed the negative results,and the bronchoscope examination showed the normal results as well.Considering about the possibility of RTX-ILD,RTX was stopped immediately and turned to intravenous infusion of methylprednisolone 40 mg per day.Results:Five d later,the symptoms of the patients were improved,and the follow-up methylprednisolone was changed to oral and gradually reduced to discontinuation.Conclusion:RTX-ILD is relatively rare,and its clinical manifestations lack specificity. Hormonotherapy is the main method in treatment of RTX-ILD. The patients sensitive to hormonotherapy have better prognosis than those insensitive to hormonotherapy.

Objective To evaluate the effect of sufentanil on autophagy during myocardial ischemia-reperfusion (I/R) in rats.Methods Eighteen adult male Sprague-Dawley rats,weighing 200-250 g,were randomly divided into 3 groups (n =6 each) using a random number table:sham operation group (group SH),I/R group,and sufentanil group (group S).Myocardial I/R injury was produced by occlusion of the anterior descending branch of the left coronary artery for 30 min followed by 120 min reperfusion in the rats anesthetized with chloral hydrate in I/R and S groups.Sufentanil 3 μg/kg was injected via the caudal vein at 30 min prior to ischemia in group S.The equal volume of normal saline was given in SH and I/R groups.At 120 min of reperfusion,arterial blood samples were collected for determination of serum creatine kinase-MB (CK-MB) and lactic dehydrogenase (LDH) concentrations,and myocardial specimens were obtained for examination of the ultrastructure of myocardial cells (using transmission electron microscopy) and for determination of autophagy-related proteins microtubule-associated protein 1 light chain 3 Ⅱ (LC3Ⅱ),Beclin-1 and Bcl-2 expression (by Western blot).Results Compared with group SH,the serum CK-MB and LDH concentrations were significantly increased,the expression of LC3 Ⅱ and Beclin-1 was significantly up-regulated,and Bcl-2 expression was significantly down-regulated in group I/R,and the serum CK-MB concentration was significantly increased,the expression of Beclin-1 and Bcl-2 was significantly down-regulated in group S (P＜0.05).Compared with group I/R,the serum CK-MB concentrations were significantly decreased,the expression of LC3 Ⅱ and Beclin-1 was significantly down-regulated,Bcl-2 expression was significantly up-regulated (P＜ 0.05),no significant change was found in serum LDH concentrations (P＞0.05),and the pathological changes were reduced in group S.Conclusion The mechanism by which sufentanil reduces myocardial I/R injury may be related to decreased autophagy in rats.

Objective Investigate the effect of EC50 of propofol target-injection in the different TCM (traditional Chinese medicine) physique types of patients who are in unconscious phase. Methods Depend on the standard protocol of TCM physique types sort and determination, we sorted 60 patients into three groups:Ping He (group A), Yang Xu (group B) and Yin Xu (group C), 20 patients per group. We applied the sequential experiment to measure the minimal EC50 and NI values of propofol when the patients were in the unconscious phase. Results The EC50 of propofol of group A, B and C are 3.85 μg/mL, 4.12 μg/mL and 3.43 μg/mL respectively. 95% confidence intervals of group A, B and C are 3.64 ~ 4.07 μg/mL, 3.92 ~ 4.33μg/mL and 3.26 ~ 3.60 μg/mL respectively. Conclusion There is a correlation between the different TCM physique types and the dosage of propofol target-injection.