AIM:To evaluate the relationship between dry eye disease(DED)and physical and mental health in teachers, and to explore its mechanism and propose intervention measures.METHODS:Cross-sectional study. A total of 183 teachers from three primary and secondary schools in the urban area of Linyi City, Shandong Province were enrolled in the study. DED symptoms were quantified using the ocular surface disease index(OSDI)questionnaire. A compact version of the depression, anxiety, and stress scale(DASS-21)was used to evaluate psychological state. The relationship between potential influencing factors and DED was evaluated by independent sample t-test of quantitative variables and χ2test of classified variables. Logistic regression analysis was used for multivariate analysis to determine the influencing factors of DED. Pearson correlation coefficient was used to analyze the correlation between OSDI score and depression, anxiety and stress.RESULTS: There were 183 teachers, including 44 males(24.0%)and 139 females(76.0%), aged from 22 to 57 years, with an average age of(34.2±8.6)years. The prevalence of DED was 60.0%(109/183; 95%CI 52.4%-66.7%). The prevalence of depression was 26.2%(48/183; 95%CI 19.8%-32.7%); anxiety prevalence was 39.3%(72/183; 95%CI 32.2%-46.5%); and stress prevalence was 23.0%(42/183; 95%CI 16.8%-29.1%). The univariate analysis showed that increased age, increased working years, increased visual display terminal(VDT)application time, longer written working hours, reduced sleep hours, less alcohol consumption, and high scores of depression, anxiety and stress were all factors affecting DED(all P<0.05). Using depression scores as the psychological index, multivariate Logistic regression analysis showed that years of work, VDT application time, written working hours, sleep time, alcohol consumption and depression score were the influencing factors of DED(all P<0.05); Using anxiety scores as the psychological index, multivariate Logistic regression analysis showed that years of work, VDT application time, written working hours and stress scores were the influencing factors of DED(all P<0.05); Using stress scores as the psychological index, multivariate Logistic regression analysis showed that years of work, VDT application time, written working hours and stress scores were the influencing factors of DED(all P<0.05). OSDI scores were positively correlated with depression, anxiety, and stress scores in the DED group(P<0.05)and across all participants(P<0.05). In the severe DED group, OSDI scores were positively related to depression, anxiety, and stress scores(P<0.05).CONCLUSION: The prevalence of DED is high among the teachers. Alcohol consumption, reduced sleep, longer working years, longer VDT usage and longer written working hours are the influencing factors of DED. In severe DED group, DED is highly correlated with depression, anxiety, and stress. We should pay attention to teachers' DED and related physical and mental health problems, and actively prevent and make early diagnosis and treatment.

OBJECTIVE: To explore the genetic basis for a pedigree affected with Alport syndrome. METHODS: Next generation sequencing and Sanger sequencing was carried out to detect potential variant of the COL4A5 gene among members from the pedigree and 100 unrelated healthy controls. RESULTS: A novel missense c.3293G>T (p.Gly1098Val) variant was found in the COL4A5 gene among 6 affected members but not the unaffected members of the pedigree or the 100 healthy controls. According to the American College of Medical Genetics and Genomics standards and guidelines, the c.3293G>T variant was classified as pathogenic (PP1-strong+PM1+PM2+PP3+PP4). CONCLUSION By destructing the Gly-X-Y structure of its protein product, the c.3293G>T variant of the COL4A5 gene probably underlies the Alport syndrome in this pedigree. Above finding has enriched the spectrum of COL4A5 variants.

OBJECTIVE: To analyze variant of IDS gene in a pedigree affected with mucopolysaccharidosis type II (MPS II). METHODS: The proband was subjected to next generation sequencing and Sanger sequencing to identify potential variants. Suspected variant was analyzed by its co-segregation with the disease in the pedigree. Its impact on mRNA splicing was analyzed by using reverse transcription PCR (RT-PCR). RESULTS: A hemizygous IVS1-3T>G variant was found in the IDS gene in the proband. RT-PCR results revealed two abnormal cDNA fragments of 600 bp and 300 bp. The 600 bp fragment had inserted 216 nucleotides at the 3' end of intron 1, while the 300 bp fragment had lost 109 nucleotides at the 5' end of exon 2, which resulted in two truncated proteins comprising 38 and 92 amino acids, respectively, instead of the normal product (550 amino acids). The proband and his mother were respectively hemizygous and heterozygous for the variant. The same variant was not found among 100 normal controls. CONCLUSION The IVS1-3T>G variant of the IDS gene probably underlies the MPS II in this pedigree by causing reduction or elimination of the IDS protein.

Objective: To investigate the early diagnosis and treatment for burn complicated with severe paroxysmal sympathetic hyperactivity (PSH). Methods: Medical records of patients with burn complicated with severe PSH, admitted to our department from April 2016 to March 2019 and meeting the inclusion criteria were analyzed retrospectively. There were 4 males and 1 female, aged 17 months to 39 years, with an average of (21±16) years. During occurrence of PSH, the vital signs of patients were routinely monitored and oxygen were given. Other treatment included central venous catheterization and infusion of electrolyte solution, infusion of plasma according to patients′ condition, use of opioid analgesics and benzodiazepine sedatives, physical cooling and drug cooling, and establishment or maintenance of artificial airway and use of ventilator. Heart rate was controlled below 120 beats per minute in adults and 140 beats per minute in children with comprehensive treatment dominated by analgesia and sedation. Besides, single or multiple vasoactive agents, even in large doses were used to maintain normal blood pressure of patients. The occurrence characteristics, time, and treatment outcome of PSH were analyzed. Results: PSH happened rapidly, with a sharp increase in several minutes to dozens of minutes. Five patients were with symptoms such as high body temperature, shortness of breath, very fast heart rate, normal or elevated systolic blood pressure, hyperhidrosis, and dystonia at the onset. The symptoms occurred simultaneously or successively. According to the Clinical Feature Scale, the above-mentioned 6 indexes achieved the highest score of 3 points except of systolic blood pressure. Four patients showed dilated pupils and impaired consciousness. Among the patients, PSH occurred in the acute exudation stage in 3 patients, in the fluid reabsorption stage in 1 patient, and in the late repair stage in 1 patient. PSH of patients lasted for 3 hours to 12 days. The symptoms of 4 patients were effectively controlled, and 1 patient died of deterioration. No PSH occurred in the cured patients during follow-up of 3 to 14 months. Conclusions Burn complicated with PSH can occur at any time before wound repair and in patients with different injury conditions. The causes of PSH include sudden burn, persistent pain, fright and fear, strange environment, low blood volume, and other adverse stimuli, and PSH is more likely to occur in children with underdeveloped brain function. Intravenous infusion of analgesics sedatives, physical therapy and medication to lower body temperature, stabilizing blood pressure and respiration are effective measures to treat PSH. PSH should be distinguished from the common complications of burns, such as sepsis, cerebral edema, hyperpyretic convulsion, transfusion response, stress disorder, etc.

Objective To evaluate the efficacy and safety of tip-flexible ureterorenoscope (tf-URS) with holmium laser for one-stage management of parapelvic cyst.Methods The clinical data of 26 patients treated with tf-URS incision and drainage using holmium laser from February 2016 to August 2018 were reviewed.The study were including 15 male and 11 female patients,ranging from 32 to 68 years old,with an average of 53.5 years old.There were 24 cases of unilateral single renal parapelvic cyst and 2 cases of bilateral single renal parapelvic cyst.There were 4 cases in 26 cases with unilateral single renal parapelvic cyst and contralateral single renal cyst,2 cases with unilateral single renal parapelvic cyst and ipsilateral kidney of stones.The diameter of parapelvic cyst was 3.4-5.6 cm,average 4.8 cm.All patients had undergone holmium laser endo-decortication of parapelvic cyst by tf-URS.With general anesthesia,tf-URS accessed pelvis retrogradely and decorticated parapelvic cyst with 200 μm Holium laser to drainage the cyst to pelvis.If the tf-URS was not placed successfully for the first time,Double-J tubes were retained for 1-2 weeks before treatment.The operative time,hospitalization time,blood loss,postoperative complications and clinical symptoms were collected and analyzed.Results The one-time access success rate of insertion of ff-URS was 88.5％ (23/26).All operations were successful without severe complications.The average time of operation was 17.2 min,ranging from 11 to 25 min.In 3-30 months follow-up,the cysts disappeared in 22 patients and reduced by more than one half in 1 patients.Flank pain relieved in 19 patients.Conclusions Holmium laser endo-decortication of parapelvic cyst by tf-URS could be a simple,minimally invasive,safe and effective method for parapelvic cyst,which is worthy of further promotion and application in clinical practice.

OBJECTIVETo detect mutations of the XPC (XPC complex subunit, DNA damage recognition and repair factor) gene in a family affected with xeroderma pigmentosum group C (XP-C).

METHODSThe patient was subjected to next-generation sequencing and Sanger sequencing. Suspected mutations were validated by Sanger sequencing. Effect of splicing mutation was confirmed by reverse transcription-PCR (RT-PCR).

RESULTSCompound heterozygous mutations of c.2098G to T and c.2034-7_2040del were found in the XPC gene in the proband. Among these, c.2098G to T (p.G700X) is a nonsense mutation resulting in a truncated XPC protein. C.2034-7_2040del involves the -1 position, which may alter the splice donor site of the intron 11 of XPC and result in a truncated XPC protein with loss of amino acids from 940 to 679 positions. The two mutations were not detected among 100 unrelated healthy controls.

CONCLUSIONMutations of c.2098 G to T and c.2034-7_2040del of the XPC gene may lead to abnormal XPC expression and reduction or elimination of normal XPC functions, which may underlie the disease in this family.

OBJECTIVETo assess the value of droplet digital PCR (ddPCR) for non-invasive prenatal diagnosis of single gene disease in two families.

METHODSPaternal mutation in cell-free DNA derived from the maternal blood and amniotic fluid DNA was detected by ddPCR. Suspected mutation in the amniotic fluid DNA was verified with Sanger sequencing.

RESULTSThe result of ddPCR and Sanger sequencing indicated that the fetuses have carried pathogenic mutations from the paternal side in both families.

CONCLUSIONDroplet digital PCR can accurately detect paternal mutation carried by the fetus, and it is sensitive and reliable for analyzing trace samples. This method may be applied for the diagnosis of single gene diseases caused by paternal mutation using peripheral blood sample derived from the mother.

Fathers ; Female ; Genetic Diseases, Inborn ; diagnosis ; Humans ; Male ; Maternal Serum Screening Tests ; Mutation ; Polymerase Chain Reaction ; methods ; Prenatal Diagnosis ; methods ; Sequence Analysis, DNA

Objective To evaluate the efficacy and safety of transurethral laser shovel type vaporresection-enucleation of the prostate (LS-VREP) based on the inter-layer of surgical capsule for the treatment of benign prostatic hyperplasia (BPH),which was less 80 g weight.Methods From September 2013 to August 2016,a retrospective study was performed including 1 369 cases of BPH patients,who were treated by 120-160 W transurethral laser (straight green-light) shovel type vapor-resection-enucleation of the prostate (LS-VREP group,n =1 008) and transurethral resection of the prostate (TURP group,n =361).The preoperative data,including average age,prostate weight,IPSS,QOL,Qmax and PVR was reviewed.There was no significant difference of the above data between the two groups (P ＞ 0.05).Operative time,changes of hemoglobin and serum sodium concentration,postoperative bladder irrigation time,catheter indwelling duration,hospital stay,pre-and 3 months post-operative IPSS,QOL,Q PVR were recorded.In addition,complications were monitored.Results Mean operation time of LS-VREP group was (46.1 ± 18.6) min,while TURP group was (48.2 ± 15.2) min,and there was no difference between the two groups (P ＞ 0.05).Post-operative mean hemoglobin concentration and serum sodium concentration of LS-VREP group decreased (1.6 ± 1.2) g/L and (1.2 ± 0.6) mmol/L respectively,while those of TURP group decreased (5.7 ± 3.6) g/L and (3.2 ± 1.2) mmol/L,and the differences were statistically significant (P ＜ 0.05).Mean post-operative catheter indwelling time,and post-operative hospital stay of LS-VREP group was (42.9 ± 12.7) h and (3.2 ± 0.6) d,while TURP group was (65.7 ± 15.4) h and (5.4 ± 1.2) d,and the differences were statistically significant (P ＜ 0.05).Comparatively IPSS,QOL,Qmax and PVR were all improved significantly in both groups at 3 months after operation (P ＜ 0.05),but no significant difference was found between the two groups (P ＞ 0.05).After three months' follow-up of post-operation,as for the complication rate,including TURS,bleeding requiring reoperation,incontinence,dysuria and erectile dysfunction,LS-VREP group (15/1 008) was less than that of TURP group (30/361,P ＜ 0.05).Conclusions The LS-VREP based on the inter-layer of surgical capsule is safe and effective for the treatment of BPH patients whose prostate weight was less than 80 g.LS-VREP showed less intraoperative bleeding,faster postoperative recovery,and high safety,which is considered a safe,effective and optimized minimally invasive surgery.

Objective To evaluate the safety and efficacy of transurethral frontfiring photoselective vaporesection for the treatment of cystitis glandularis,by comparing with the transurethral bipolar plasmakinetic resection.Methods From January 2014 to July 2016,41 patients with pathologically diagnosed cystitis glandularis in our hospital,were divided into two groups,including 22 cases underwent transurethral frontfiring photoselective vaporesection(the observation group),and the other 19 cases underwent transurethral bipolar plasmakinetic resection(the control group).All patients were regularly treated with postoperative intravesical instillation chemotherapy with pirarubicin.The clinical data of two groups were statistically analyzed to compare the differences of the safety and efficacy.Results All the surgeries were performed successfully.There were no statistical significances in perioperative data,the operation time,the decreased concentration of hemoglobin(Hb)and Na+,operative related complications, indwelling catheter duration and hospitalization duration between the two groups.The first-time cure rate and the effective rate of transurethral frontfiring photoselective vaporesection showed significantly better than those of transurethral bipolar plasmakinetic resection(P<0.05 for each).Conclusion Comparing the traditional transurethral bipolar plasmakinetic resection for the treatment of cystitis glandularis,tansurethral frontfiring photoselective vaporesection with postoperative intravesical instillation chemotherapy with pirarubicin,is a safer,simpler,and more effective method,which could be a new optional method in the conditional hospitals,deserving the worthy of clinical popularization.

OBJECTIVETo detect mutation of GLI3 gene in a family affected with autosomal dominant synpolydactyly.

METHODSGenomic DNA was extracted from peripheral blood samples from members of the family and 100 unrelated healthy controls. Potential mutation was screened by next-generation sequencing and confirmed by Sanger sequencing.

RESULTSA heterozygous frameshift mutation c.480dupC was identified in the GLI3 gene among all patients from the family. The same mutation was not found in unaffected family members and the 100 healthy controls.

CONCLUSIONThe c.480dupC of the GLI3 gene probably underlies the synpolydactyly in this family.

Adolescent ; Adult ; Amino Acid Sequence ; Female ; Humans ; Male ; Middle Aged ; Mutation ; genetics ; Nerve Tissue Proteins ; genetics ; Pedigree ; Syndactyly ; genetics ; Zinc Finger Protein Gli3 ; genetics