Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C. To date, at least 9 different human diseases, which superficially seem to share little with one another, result from LMNA mutations. The position of the mutation within LMNA appears to be associated with the phenotypes. This review gives an overview of genotype-phenotype relationship and describes recent advances in animal models and pathogenic mechanisms.

Objective To establish a new method for determination of Pb and Cd in sewage.Methods The contents of Pb and Cd in sewage were simultaneously determined by linear sweep anodic stripping voltammetry in0.1mol/L HCl -0.1mol/L KCl solution.Results The peak potentials of Pb and Cd appeared at-588mV and-780mV respectively.The recovery rates and precisions(RSD%)of Pb and Cd were90.0%-110.0%,91%-109.5%and0.41%-4.24%,0.56%-7.03%respectively.The lin-ear range of Pb and Cd was0.005-0.2mg /L.Conclusion This method could be applied for determination of Pb and Cd in sewage.

Objective: To intensively investigate sporadic CMT patients, we have analyzed the LMNA gene in this study in a series of 32 unrelated CMT patients. Methods: Twelve exons of the LMNA gene were amplified from genetomic DNA. PCR products of each exon were analyzed by single strand conformational polymorphism (SSCP). Results: No abnormal SSCP pattern, suggesting no mutation in our CMT patients, was detected. Conclusion: The CMT diseases resulted from the mutations of LMNA gene were rare.

Objective To study the awareness of perimenopausal hormone replacement therapy (HRT) among a part of the medical care personnel in Guiyang . Methods A survey was conducted among 500 medical staff members in 4 hospitals of Guiyang by cluster random sampling using questionnaire about HRT. Results The survey showed that 74.6% (373/500) medical staff thought that the hormone replacement therapy was necessary to perimenopausal women; 96.7% (87/90) of obstetrics and gynecology doctors believed that it was necessary for perimenopausal women to use HRT,which was significantly higher than the doctors of other specialties 68.6% (166/242) and the nurses group 71.4% (120/168) (χ2=28.509, 23.537, P<0.01). Only 5.8%(29/500) of the medical personnel were willing to recommend HRT. In light of the attitude for recommending HRT, the obstetricians and gynecologists group was more significantly higher than the other specialties doctors group (χ2=86.781, P<0.01). Conclusion The knowledge of hormone replacement therapy in part of Guiyang medical personnel is not sufficient;the recommending rate of HRT was low;the side effects of HRT was still a concern. There are differences between obstetrics and gynecology doctors and doctors other specialties and nurses in HRT knowledge.

Objective To study the relationship between intrauterine infection and early neonatal sepsis.Method From October 2015 to September 2016,the clinical data of pregnant mothers and their newborns in Shenzhen Longhua District Central Hospital were collected,and data of Shenzhen People's Hospital from January 2016 to June 2016 were collected.100 pairs of pregnant mothers and their newborns with confirmed or suspected intrauterine infection were selected as the observation group,and another 100 pairs without intrauterine infection during the same period as the control group.The ratio of term infants vs.premature infants was 1∶ 1.The complete blood count (CBC),CD64,procalcitonin (PCT) and C-reactive protein (CRP) were measured in peripheral blood of all mothers on the day of delivery.The CBC,CD64,CRP,PCT,blood culture of both umbilical venous blood and peripheral blood in neonates were examined and the pathological examination of placenta was performed.Result The positive rate of placental pathology and umbilical cord blood culture in observation group were significantly higher than that in the control and the positive rate in preterms was higher than the terms in observation group (P ＜ 0.05).No significant differences existed between term and premature newborns on the positive rate of peripheral blood culture (P ＞ 0.05).The positive rate of blood culture from umbilical cord blood was higher than peripheral blood in observation group (P ＜ 0.05),but no significant difference in control group (P ＞ 0.05).The incidence of septicemia in term and premature newborns in observation group was significantly higher than the control group (P＜ 0.05).The CD64,PCT in mother's peripheral blood and umbilical cord blood,and CRP in mother's blood were all higher than the control group,the differences were statistically significant (P ＜ 0.05),but CRP in umbilical cord blood in both group were similar (P ＞ 0.05).The area under ROC curve of CD64 and PCT in mother's peripheral blood,CD64 and PCT in umbilical cord blood to diagnose early-onset septicemia in newborns was 0.755,0.793,0.852 and 0.811,respectively.Conclusion The risk of neonatal infections is significantly increased because of intrauterine infection.Combination of peripheral and umbilical blood cultures can increase the accuracy of sepsis diagnosis.Both CD64 and PCT in umbilical cord blood and maternal blood can be used as indicators of intrauterine infection with a predictive value in the diagnosis of early-onset neonatal sepsis.

Objective:To analyze the biomechanical characteristics of bilateral lumbo-iliac fixation by finite element analysis after digital optimization of a safe screw pathway.Methods:Firstly, a healthy adult male volunteer was recruited for this study who underwent CT scanning of the lumbus and pelvis, with a slice thickness of 0.625 mm.The original data were imported into Mimics 16.0 software for 3D lumbar and pelvic reconstruction.At the same time, a geometric screw pathway and a free screw pathway were generated in the pedicles of L4 and L5 and ilium.Secondly, all 3D models were imported into Ansys 12 software to assemble a finite element model.The displacements and von Misses stress distribution were measured in the conditions of forward bending, backward extending, lateral bending to the left and right, and left and right rotations in the models of 2 kinds of pathway after gravity axial load of 500 N was applied.Results:The models of 2 different pathways were similar in comprehensive displacement and stress in the conditions of forward bending, lateral bending and backward extending, and in the maximum stress of the screw in the conditions of forward bending and lateral bending.However, the comprehensive displacement and stress in the condition of rotation and the stress of the screw in the conditions of backward extending and rotating in the model of geometric screw pathway were obviously smaller than those in the model of free screw pathway.The maximum pelvic stress was on the screw surface between 190 and 260 MPa, concentrated on the bending area of the 2 screws connecting the sacrum and vertebral body.The lumbar-iliac fixation model showed high com-pressive stiffness.The maximum von Misses stress appeared in the L4-L5 pedicle screw on the longitudinal rod.Under rotational loading, the upper longitudinal rod connecting the L4-L5 pedicle screw and the iliac bone screw bore the maximum stress.Conclusions:Our finite element analysis shows that double verte-bral bodies and long screw fixation are effective ways of iliolumbar fixation.The geometric screw path optimized by digital analysis exhibits better fatigue resistance, rotation resistance and overall stability.Internal lum-bo-iliac fixation can effectively share the stress of vertebral bodies.

Objective: To carry out a investigation on molecular epidemiological features of tick-borne Brucella in Xinjiang Uygur Autonomous Region (Xinjiang), and to provide a scientific basis for formulation of effective preventive and control measures. Methods: In 2016-2018, parasitic ticks (including engorged females) were collected on the body surface of livestock in 10 counties (cities) along the border of Xinjiang. The free-living ticks were collected by flagging method in Alashankou. The engorged female was placed in a breathable insect tube for spawning, each egg batch was divided into two parts: one part was tick eggs, while the second part was allowed further larval development. All ticks were identified by molecular biology (16S rRNA) identification. Tick DNA was extracted, PCR was performed based on Brucella omp22 and IS711, and amplification products were sequenced and analyzed by BLAST. Results: A total of 1 084 ticks were collected in 11 counties (cities), of them 747 were parasitic ticks (including 34 engorged females) and 337 were free-living ticks. Based on 16S rRNA identification, 1 084 ticks belonged to 4 genera and 5 species, and the proportions of Dermacentor nuttalli, Dermacentor marginatus, Haemaphysalis punctata, Hyalomma asiaticum and Rhipicephalus turanicus were 29.43% (319/1 084), 16.51% (179/1 084), 10.42%(113/1 084), 37.27% (404/1 084), and 6.37% (69/1 084), respectively. A total of 214 Brucella-positive nucleic acid samples were detected, the positive rate was 19.74%. The parasitic ticks' positive rate was 25.30% (189/747), and the free-living ticks' positive rate was 7.42% (25/337), parasitic ticks' positive rate was higher than that of free-living ticks (χ²=46.873, P < 0.05). Two Brucella melitensis nucleic acid samples were detected in 34 "engorged females-tick eggs" developmental stage, and one Brucella melitensis nucleic acid sample was detected in 22 "tick eggs-larvae" developmental stage. Conclusions Brucella is widely distributed in parasitic ticks and free-living ticks in Xinjiang border areas, and the parasitic ticks' positive rate is obviously higher than that of free-living ticks. The Brucella melitensis has potential transovarian transmission and transstadial transmission in ticks. In the prevention and control of livestock brucellosis, the work of killing ticks should be strengthened, including parasitic ticks on the body surface and free-living ticks in the environment.

AIM: To evaluate the safety and efficacy of ultrasonic cycloplasty(UCP)combined with anti-vascular endothelial growth factor(VEGF)+ panretinal photocoagulation(PRP)in the treatment of advanced neovascular glaucoma(NVG).METHODS: Retrospective study. A total of 45 patients(45 eyes)with advanced NVG who received surgery in our hospital from August 2020 to September 2022 were collected and divided into UCP+ anti-VEGF +PRP group(16 patients, 16 eyes), transscleral cyclophotocoagulation(TCP)+anti-VEGF+PRP group(20 patients, 20 eyes), UCP alone group(9 patients, 9 eyes). The intraocular pressure, pain scores, postoperative medication, effective rate, total success rate and the incidence of complications of the patients in the three groups were compared before surgery and at 1 d, 1 wk, 1 and 3 mo after surgery.RESULTS: There was no significant difference in preoperative intraocular pressure, pain scores and preoperative medication of patients in the three groups(all P>0.05). While there were statistical significance in the intraocular pressure and pain scores at 1 d, 1 wk, 1 and 3 mo after surgery(all P<0.01). The intraocular pressure of the UCP alone group(31.78±10.23 mmHg)was found to be higher than that of both the UCP+ anti-VEGF +PRP group(19.44±8.23 mmHg)and the TCP+ anti-VEGF +PRP group(20.80±10.27 mmHg)at 1 mo postoperatively(all P<0.017). The pain score of the TCP+ anti-VEGF +PRP group at 1 d and 1 wk postoperatively was higher than both the UCP+ anti-VEGF +PRP group and the UCP alone group(all P<0.017). The effective rates of UCP+ anti-VEGF +PRP group, TCP+ anti-VEGF +PRP group and UCP alone group were 81%(13/16), 75%(15/20)and 67%(6/9), respectively,(P=0.675), and the success rates were 69%(11/16), 50%(10/20), and 0(0/9), respectively(P=0.003). There was no significant difference in complications of patients in the three groups(P>0.05).CONCLUSION: UCP combined with anti-VEGF +PRP and TCP combined with anti-VEGF +PRP showed comparable efficacy in reducing intraocular pressure in advanced NVG. UCP combined with anti-VEGF+PRP was more effective in relieving pain and with no serious complications in advanced NVG. UCP alone can effectively control intraocular pressure and alleviate the pain of patients in the early postoperative period, but long-term control still requires anti-VEGF+PRP.