[ ABSTRACT] AIM:To investigate the genetic cause of 2 Chinese families with Marfan syndrome .METHODS:The clinical and laboratory investigations were performed in the 2 unrelated Chinese families .Family 1 had 1 patient with cardiac problem.Family 2 had 2 patients:one died, and the other with respiratory and cardiac problems .Next generation sequencing and Sanger sequencing in the Marfan syndrome causal gene FBN1 were performed in the patient , his unaffected sister and the parents of family 1.Sanger sequencing covering all the exons and intron-exon boundaries were performed in the patient and the parents in family 2.Bioinformatic analysis was engaged in the variations unravelled .Fifty healthy indi-viduals were also investigated in the same manner .RESULTS:Both patients were diagnosed with Marfan syndrome .A no-vel mutation c.4685G>A (p.Cys1562Tyr) was detected in the patient of family 1 but was absent in his parents and the unaffected sister .This is a previously unreported novel mutation .In the mutation a conserved Cys was substituted by a Tyr in amino acid 1562 affecting a TGF-βbinding domain and the secondary structure in the encoded protein .We also detected the mutation c.3706T>C (p.Cys1236Arg) in the patient of family 2.It was absent in the unaffected parents , and there-fore was a de novo mutation too.This mutation has been previously reported and known to be associated with neonatal Marfan syndrome .Both mutations were absent in the 50 healthy controls .We also compared the genotype and phenotypes of the 2 families.CONCLUSION:We report 2 de novo mutations in 2 Chinese families with Marfan syndrome .One of the 2 mutations is novel.The phenotype of the mutation c.4685G>A(p.Cys1562Tyr) in family 1 is associated with classical Marfan syndrome, while that of c.3706T>C (p.Cys1236Arg) in family 2 is with neonatal type of Marfan syndrome .De novo mutations may be a cause for a proportion of mutations underlying the disease .The novel mutation also expends the mutational spectrum of the FBN1 gene.

Objective: To observe the therapeutic effect of Jingyuankang capsule on peripheral leukopenia in patients with HIV/AIDS.Methods: The methods of randomized,double blind,double analogue clinical trials were used for two groups: 58 cases treated with Jingyuankang capsule,Likejun tablet analogue and HAART therapy;58 cases treated with Likejun tablets,Jingyuankang capsule analogue and HAART therapy.Both groups had systematic administration of 6 weeks.The peripheral blood cells were examined to observe the therapeutic effect of Jingyuankang capsule on peripheral leukopenia.Results: Jingyuankang capsule had a good therapeutic effect in treating peripheral leukopenia.It signifi cantly increased the numbers of leukocytes and granulocytes.As the time of administration,it could promote the growth of leukocyte more obviously.It was clinical safe and effective.No toxic and side effect was found in the process of treatment and later follow-up visit.Conclusion: Jingyuankang capsule can effectively treat peripheral leukopenia in patients with HIV/AIDS.

Objective To summarize the preliminary experience of early anticoagulant therapy after endovascular stent graft exclusion for Stanford B type aortic dissection.Methods From June 2006 to June 2011,75 patients[ 65 males,10 fe males,mean age (59.1±13.5) years,range 22 -81 years ] under went endovascular stent-graft exclusion for Stafford B type aortic dissection in Shanghai Xinhua Hospital.Computed tomography angiography (CTA) was used to evaluate the lesions of aortic dissection before endovascular stent-graft exchusion.The descending thoracic aortic diameters were 22 mm to 42 mm [ mean (30.3±4.0) mm ].The distance from the breakage of dissection to the left vertebral artery(LSA)was longer than 1.5 mm in 29 cases,and shorter than 1.5cmin 46 cases.During the operation,left subclavian artery revascularization was per formed to patient,whose left vertebral artery was advantage and needs to be fully or partially covered From the second day after operation,asprin was given to patint,whose left subclavian artery was fully or partially coverd by endovascular stent-graft(no endoleak and residual distal tear).Early anticoagulant therapy lasted 3 months.The symptoms or signs about nervous system were observed in the early stage of postoperation,and the CTA was examined at postoperative 3 months.Results The operation succeeded in 75 patients.The diameters of aortic stent were 26mm to 46rmm[ mean(34.3±4.0) mm ].Left subclavian ar tery revascularization was carried out for 2 cases of all patients.The left subclavian artery was fully or partially coverd in 58 patients(fully covered in 19 cases,2/3 covered in 15 cases,1/2 covered in 24 cases),and 56 patints(no endoleak and residualdistal tear) were given anticoagulant therapy to prevent vertebral artery thrombosis.2 patients(2.7％)died in the early stage after operation.1 patient died of renal failure,1 patient died of dissection rupture,The duration of hospitalization was 4 to 19 days [ mean (7.9±3.5)days ].No neurological complications occurred in hospital.The follow-up period was 6 to 66 months.1 patient died during the follow-up,1 patient had recurrence of Stanford A type aortic dissection and was cured by ascending aorta and aortic arch replacement,1 patient had recurrence of Stanford B type aortic dissection and was cured by second endovascular stent-graft exclusion.All patients had no neurological complications,such as cerebral infarction and paraplegia.Concluslon Early anticoagulant therapy could safely and effectively prevent the neurological complications (such as cerebral infarction and paraplegia) related to vertebral artery thrombosis for Stanford B type aortic dissection patients whose left subclavian artery was fully or partially coverd by endovascular stent-graft.

OBJECTIVETo establish a method for simultaneously determining the urinary concentrations of 8-hydroxy-2'-deoxyguanosine (8-OHdG), trans, trans-muconic acid (tt-MA), and S-phenylmercapturic acid (S-PMA) in subjects exposed to benzene.

METHODSAfter being purified by a solid-phase extraction column, the urine samples were transferred to a liquid chromatography-mass spectrometry system, and the concentrations of 8-OHdG, tt-MA, and S-PMA were determined by external standard method. A C18 reversed-phase column was used as the chromatographic column, and methanol/acidic ammonium formate solution was used as the mobile phase for gradient elution. The mass spectrometer was operated in a multi-reaction monitoring mode.

RESULTSFor tt-MA, the calibration curves were linear in the range of 10-1000 µg/L, and the recovery rates were over 90% (relative standard deviation (RSD) < 3%) at spiked levels of 50 µg/L and 500 µg/L. For S-PMA and 8-OHdG, the calibration curves were linear in the range of 1-100 µg/L, and the recovery rates were over 85% (RSD < 5%) at spiked levels of 5 µg/L and 50 µg/L.

CONCLUSIONThis determination method meets the requirement of Biological materials-

METHODSof monitoring-Guide of development (WS/T 68-1996) and can be used for simultaneous determination of 8-OHdG, tt-MA, and S-PMA in urine.

Acetylcysteine ; analogs & derivatives ; urine ; Benzene ; poisoning ; Chromatography, Liquid ; methods ; Deoxyguanosine ; analogs & derivatives ; urine ; Humans ; Mass Spectrometry ; Occupational Exposure ; prevention & control ; Sorbic Acid ; analogs & derivatives ; metabolism

To screen and evaluate the TCM in the treatment of bronchial asthma. Methods Retrieved the journals from China National Knowledge Infrastructure, the Vip Database, Wanfang Data and the Chinese Biomedical Literature Database (Sino Med) . The time limitation ran from January 1, 1987 to December 31, 2016. Extracted the indicators of the assessment based on the evaluating and screening system of country feasible TCM technology. Results a total of 150 treatment techniques were screened.They mostly were Chinese compound formula or point-application therapy. The score was between 24.857 and 34.304. Application of evaluating and screening system of country feasible TCM technology can screen and evaluate the feasible technologiesin the treatment of remission phase of bronchial asthma.

Objective To evaluate the effects of intermittent hypoxia-reoxygenation(IHR)on body weight,diet and water intake,circulating metabolites,and responses to central leptin injection in a rat model of diet-induced obesity(DIO).Methods Rat models of DIO established by 12-week high-fat diet(HFD)feeding were randomized into normoxia group(n=15),intermittent hypoxia group(6％O2,30 cycles/h,8 h/day for 4 weeks;n=15),and IHR group(2 weeks of intermittent hypoxia followed by 2 weeks of reoxygenation;n=15).Body weight,diet and water intake of the rats were recorded,and circulating leptin,IL-6,and Ang-Ⅱ levels were detected.After IHR treatment,the rats received intracerebroventricular injection of 4 μg leptin,and the hypothalamus and liver were taken 1 h later for detecting POMC,FRA-1 and FRA-2 expressions in the hypothalamus using immunohistochemistry,POMC,pSTAT3 and LepR expressions in the hypothalamus using Western blotting,and LepR mRNA expression in the hypothalamus and liver using RT-PCR.Results The rats in intermittent hypoxia group showed significantly increased weight gain,food intake and elevated systemic inflammatory cytokine levels.Intermittent hypoxia obviously inhibited the expression of POMC,lowered the expressions of FRA-1 and pSTAT3,reduced the responsiveness of the rats to exogenous leptin,and downregulated the mRNA and protein expression of LepR.Two weeks of reoxygenation treatment obviously reduced intermittent hypoxia-induced weight gain and metabolic disorder and improved leptin sensitivity of the rats.Conclusion Prolonged intermittent hypoxia impairs hypothalamic leptin signaling by downregulating LepR expression to promote weight gain in obese rats,which can be improved by reoxygenation treatment.

Objective To evaluate the effects of intermittent hypoxia-reoxygenation(IHR)on body weight,diet and water intake,circulating metabolites,and responses to central leptin injection in a rat model of diet-induced obesity(DIO).Methods Rat models of DIO established by 12-week high-fat diet(HFD)feeding were randomized into normoxia group(n=15),intermittent hypoxia group(6％O2,30 cycles/h,8 h/day for 4 weeks;n=15),and IHR group(2 weeks of intermittent hypoxia followed by 2 weeks of reoxygenation;n=15).Body weight,diet and water intake of the rats were recorded,and circulating leptin,IL-6,and Ang-Ⅱ levels were detected.After IHR treatment,the rats received intracerebroventricular injection of 4 μg leptin,and the hypothalamus and liver were taken 1 h later for detecting POMC,FRA-1 and FRA-2 expressions in the hypothalamus using immunohistochemistry,POMC,pSTAT3 and LepR expressions in the hypothalamus using Western blotting,and LepR mRNA expression in the hypothalamus and liver using RT-PCR.Results The rats in intermittent hypoxia group showed significantly increased weight gain,food intake and elevated systemic inflammatory cytokine levels.Intermittent hypoxia obviously inhibited the expression of POMC,lowered the expressions of FRA-1 and pSTAT3,reduced the responsiveness of the rats to exogenous leptin,and downregulated the mRNA and protein expression of LepR.Two weeks of reoxygenation treatment obviously reduced intermittent hypoxia-induced weight gain and metabolic disorder and improved leptin sensitivity of the rats.Conclusion Prolonged intermittent hypoxia impairs hypothalamic leptin signaling by downregulating LepR expression to promote weight gain in obese rats,which can be improved by reoxygenation treatment.

Objective To analyze the influence of shaping on the bending strength of bone plates and the influence of different locking nail distributions on plate force to provide biomechanical references for shaping plates and selecting different locking nail distributions.Methods Finite element simulation analysis of the four-point bending strength of a plate was performed according to the YY/T 0342-2020 standard.Theoretical analysis and finite element simulation method were used to analyze the force on prosthesis models with different lock-nail distributions.Results At 30° bending,the 3.7 mm-thick plate had 28%higher equivalent plastic strain than the 2.7 mm-thick plate.The 3.7 and 2.7 mm-thick plates had ultimate bending angles of 55° and 67°,respectively.The crease had little impact on the plate stress.The four-point bending strength and equivalent bending stiffness of the unshapeed structure were 2.64 N·m and 1.12 N·m2,respectively.The four-point bending strength and equivalent bending stiffness with the crease were 2.63 N·m and 1.10 N·m2,respectively.After forward and backward bending,the four-point bending strength of the plate decreased from 2.64 to 2.45 N·m by approximately 7.72%,and the equivalent bending stiffness decreased from 1.12 to 0.98 N·m2 by approximately 12%.The impact was obvious.After implantation of tamponade screws,the four-point bending strength of the single-hole plate improved significantly from 2.64 to 3.15 N·m,by approximately 19.32%and the equivalent bending stiffness increased from 1.12 to 1.14 N·m2,by approximately 2.1%.At least two locking holes were reserved on both sides of the fracture line.Not inserting the locking screw reduced the stress by approximately 50%compared with the full insertion of the locking screw.During 15-week postoperative walking without bone callus formation,the material stress of TC4 reached 852.7 MPa and yielding occurred.Conclusions In a clinical scenario where larger shaping is required,it is not suitable for plates with larger thicknesses and plate fractures are more likely to occur after large-thickness shaping.This can guide the clinical selection of plates with appropriate thickness based on the shaping angle,and tamponade screws can be implanted in extreme cases.Fixing locking screws clinically is recommended;however,a method of fixing the locking screws with full screws is not recommended.The biomechanical effect is best when two locking holes at both ends of the fracture line are maintained without fixing the locking screws.

Objective:To present our strategies and suggestions for management of acute hand injury during the epidemic of COVID-19.Methods:From January 1 to February 20, 2020, 78 patients with acute hand injury were admitted to the Department of Hand Surgery, Wuhan Fourth Hospital. They were 45 males and 33 females, aged from 21 to 69 years (mean, 43.2 years). Of them, 60 were treated from January 1 to 20, 2020, by medical staff under protection of class 1, and 18 from January 21 February 20, 2020, by medical staff under protection of class 2. The COVID-19 infection was recorded in the patients and medical staff as well. The measures taken and experience in control and prevention of 2019-nCoV infection during the epidemic were reviewed.Results:From January 1 to 20, 2020, 5 patients were diagnosed of COVID-19 infection, including 3 mild and 2 moderate cases, and 5 medical staff members were also diagnosed of COVID-19 infection, including 3 mild, one moderate and one severe cases. From January 21 to February 20, 2020, 2 patients were diagnosed of COVID-19 infection, including one mild and one moderate cases, but none of the medical staff was infected by COVID-19.Conclusions:During the epidemic of COVID-19, the front line medical staff may face a high risk of COVID-19 infection in the whole process of management of acute hand trauma. The risk of nosocomial COVID-19 infection can be reduced by complete pre-hospital examination, choice of proper anesthesia and surgical procedures, perioperative prevention measures for medical staff, improved postoperative ward management, and psychological counseling for the patients.