Objective To make a genetic diagnosis of sporadic neurofibromatosis type 1 with café-au-lait spots as the only presentation in a child.Methods Blood samples were collected from an 8-year-old child patient,his parents,and 100 healthy human controls.The mutation of NF1 gene was detected by PCR and direct sequencing.Results No mutation was detected in the NF1 gene of the parents or the healthy controls.There was a de novo nonsense mutation c.3520C ＞ T (p.Q1174X) in the NF1 gene of the patient,which leaded to a premature termination codon.Conclusions The child with café-au-lait spots as the only manifestation is diagnosed with sporadic neurofibromatosis type 1 by genetic testing.The mutation c.3520C ＞ T (p.Q1174X) may be an underlying cause of neurofibromatosis type 1.

Objective To investigate and analyze risk factors of re-fracture after operation of osteoporotic hip fracture.Methods Two hundred forty-seven patients receiving operation of osteoporotic hip fracture were retrospectively studied and followed up,and all patients were divided into re-fracture group (54 patients) and no-re-fracture group (193 patients).The related factors such as sex,age,body mass index (BMI),affected side,initial fracture site,operation type,perioperative blood loss,postoperative delirium,postoperative bedridden time,medical complications,Charlson comorbidity index,antiostoporosis therapy,hip function scores with Harris and functional independence measurement (FIM) scores were compared by single factor analysis and multivariate Logistic regression analysis.Results Single factor analysis and multivariate Logistic regression analysis both showed that the risk factors of re-fracture after operation of osteoporotic hip fracture included age,postoperative delirium,hypertension,diabetes mellitus,cerebrovascular disease,antiostoporosis therapy,hip function scores with Harris and FIM scores (P ＜ 0.05 or ＜ 0.01).Conclusions Risk factors of re-fracture after operation of osteoporotic hip fracture include passive factors of age,postoperative delirium and medical complications,and subjective factors of antiostoporosis therapy,hip function scores with Harris and FIM scores.Patients should receive medical treatment positively,enhance antiostoporosis therapy and rehabilitation training of hip function to prevent re-fracture.

Objective To detect and explore the expression and clinical significance of dual specificity tyrosine phosphorylation regulated kinase1b (Dyrk1b) in the specimens and cells of cervical lesions. Methods (1)All the data were collected from 75 patients with cervical cancer and 52 cases with squamous intraepithelial lesion(SIL)admitted in the First Affiliated Hospital of Dalian Medical College during Jan. 2011 to Dec. 2013 and confirmed by pathological examination, included 60 cases of stageⅠand 15 cases of stageⅡ, 12 cases with low-grade squamous intraepithelial lesion(LSIL)and 40 cases with high-grade squamous intraepithelial lesion(HSIL). While, 28 cases with chronic cervicitis were chosen as the control group. The protein expression of Dyrk1b was detected by immunohistochemistry among the four groups.(2)The expression of Dyrk1b in HeLa and SiHa cells were detected by western blot method and the expression of Dyrk1b protein were also detected after treatment of AZ191 (5, 10 μmol/L) for 48 hours in HeLa and SiHa cells.(3)The cellular survival and proliferation of HeLa and SiHa cells treated by different concentrations of AZ191(2.5, 5, 10, 25, 50, 100 μmol/L)for 48 hours were detected by methyl thiazolyl tetrazolium (MTT) assay.(4)The rate of apoptosis of HeLa and SiHa cells was detected by flowcytometry after treatment of AZ191 (5, 10μmol/L) for 48 hours. Results (1)The positive rates of Dyrk1b protein in chronic cervicitis, LSIL, HSIL and cervical squamous cancer by immunohistochemistry were 11%(3/28), 1/12, 42%(17/40)and 71%(53/75), respectively. The expression of Dyrk1b in cervical squamous cancer and HISL were higher than those in LSIL and chronic cervicitis (P<0.01), there were significant difference between cervical squamous cancer and HSIL, or between HSIL and LSIL(all P<0.05), while there were not significant difference between LSIL and chronic cervicitis(P>0.05). Expression of Dyrk1b was correlated with stromal invasion depth of cervical cancer (P<0.05), but not with age, clinical stage, lymph node metastasis, and serum squamous cell carcinom antigen(SCC-Ag)levels (all P>0.05). (2) Dyrk1b protein was expressed in different levels in HeLa and SiHa cells, and the expression of Dyrk1b was decreased gradually as the increased of the concentration of AZ191 in both HeLa and SiHa cells by treatment of AZ191 for 48 hours. (3) Different concentration of AZ191 treated on cervical cancer cells could inhibit the cellular proliferation and induce cell apoptosis in a concentration-dependent manner(P<0.01), concomitant to the decreased cell survival rate. The apoptosis rate of HeLa and SiHa were increased significantly after 10μmol/L AZ191-treatment for 48 hours, but no any difference induced by 5 μmol/L AZ191-treatment compared to control group. Also,there was no any difference between Hela and SiHa cells in either inhibitory effect or apoptosis rate induced by AZ191. Conclusions Dyrk1b is over-expressed in either specimens or cells of cervical cancer. The expression of Dyrk1b protein in cervical lesions is increased as the progression of disease. Dyrk1b inhibitor AZ191 could inhibit cellular proliferation and induce apoptosis in a concentration-dependent manner in cervical cancer cells.

Objective To establish the surveillance and risk assessment system of schistosomiasis in Jiangsu Province,so as to provide technical support for timely understanding of the risk of schistosomiasis transmission and implementation of target-ed control measures. Methods The surveillance sites of schistosomiasis were assigned according to the epidemic status and en-demic type of schistosomiasis as well as the characteristics of the water system,and the prevalence of Schistosoma japonicum in humans and domestic animals,and snail status were investigated. In addition,the quality control of serum detection of S. japon-icum infections was performed. The prevalence of human and animal S. japonicum infections,snail status and missing diagnosis of serum detection were analyzed and compared among regions. Results A total of 27 surveillance sites of schistosomiasis were set up in 26 counties of 10 cities,Jiangsu Province,including 14 sites in transmission-interrupted villages and 13 sites in trans-mission-controlled villages,and 15 sites in marshland and lake regions,9 sites in plain regions with water network and 3 sites in mountainous region. In the 27 surveillance sites,a total of 16 617 residents were screened for S. japonicum infection by using dipstick dye immunoassay(DDIA),and 326 were sero-positive,with a sero-prevalence of 1.96%(2.17%for men and 1.8%for women). Of the 326 individuals undergoing parasitological examination,2 positive cases were detected in the marshland and lake region,with a S. japonicum human prevalence of 0.01%. Of the 762 floating population detected,10 were positive for blood test,with a sero-prevalence of 1.31%,and no egg-positive individuals were detected. No infection was found in the 476 do-mestic animals. Of the 746 settings surveyed,a total of 240.7 hm2 snail area was detected,with a mean snail density of 0.06 snails/0.1 m2,and no infected snails were found. There were 780 quality-control sera detected in 26 surveillance sites of schisto-somiasis,and the gross coincidence rate was 95.13%,with misdiagnosis rate of 1.28%and missing diagnosis rate of 19.23%. Conclusion The surveillance sites of schistosomiasis show reasonable distribution in Jiangsu Province,and the endemic situa-tion of schistosomiasis appears a low level in the whole province.

Objective: To revised the Taiwan version successful aging inventory (SAI), and verify its reliability and validity in urban elderly in mainland China. Methods: SAI was adjusted by culture and revised by pre-test to form a formal questionnaire. A sample of 600 elderly people in Guangzhou was chosen for a face-to-face questionnaire survey through convenient sampling. Half of the sample (n=300) was randomly selected for exploratory factor analysis, and the other was used to confirm the structural validity of SAI. Results: Exploratory factor analysis extracted six common factors, including health autonomy, economic security, life adaptation, society and relative relationship, study and family. The cumulative contribution rate of six common factors was 65.366%. The fitting indexes of confirmatory factor analysis were χ²/df=1.861, CFI=0.930, IFI=0.930, TLI=0.923, GFI=0.823, RMSEA=0.054, RMR=0.073. There were significant ceiling effects in the four dimensions of health autonomy, economic security, life adaptation, and family. The internal consistency coefficient (Cronbach's α) of SAI was 0.930, and the test-retest reliability was 0.943. An average score of SAI ≥ 3.95 points was considered successful aging. Conclusion Reliability and validity of SAI are good, which can be used to measure the successful aging status of Chinese elders and track the effectiveness of health promotion measures.

Objective:To compare the efficacy and adverse reactions of picosecond and nanosecond Nd∶YAG laser 532 nm in the treatment of seborrheic keratosis.Methods:A total of 30 patients with seborrheic keratosis were enrolled in this study. The rash size was more than 1-2 cm. Half of them were treated with picosecond laser and the other half with nanosecond Q-switched Nd∶YAG laser by wavelength of 532 nm. The treatment effect and adverse reactions were evaluated by observing the area and the disappearance of pigment. The patients were followed up for 3 months after treatment.Results:The total effective rate was 73.33% in the experimental group and 53.33% in the control group, with no significant difference between the two groups ( P>0.05), but the pain score, satisfactory score, scab shedding time and the incidence of pigmentation in the experimental group were lower than those in the control group, and the differences were statistically significant ( P<0.05). Conclusions:The 532 nm picosecond laser has a higher efficiency in treating seborrheic keratosis than 532 nm Q-switched Nd∶YAG, but it has no statistical significance. However, the self satisfaction is higher than that of the control group; the pain score, scab shedding time and the incidence of pigmentation are lower than those of the control group, with statistical significance. Therefore, picosecond 532 nm laser treatment of early seborrheic keratosis is worthy of clinical promotion.

Objective:To detect gene mutations in patients with mild phenotypes of neurofibromatosis type 1 (NF1) .Methods:From June 2017 to June 2020, 5 probands with mild phenotypes of NF1 only involving the skin and their family members were collected from Department of Dermatology, Fengxian Institute of Dermatosis Prevention and Treatment in Shanghai. Pedigree investigation was performed to evaluate the clinical phenotypes of NF1. The second-generation targeted gene sequencing combined with Sanger sequencing was performed to detect and verify pathogenic mutations.Results:All the 5 probands presented with only skin lesions, including café-au-lait spots, freckles, neurofibromas, but no other systemic involvement. A total of 5 mutations were identified in different exons of the NF1 gene in the 5 families, including 1 large-fragment deletion mutation (hg38: chr17:31327199-31335928 del 8 730 bp) , 1 splicing mutation (C.7970+1G>T) , 1 insertion mutation (C.3011_3012insTATG, p.N1004fs*) , 1 deletion mutation (C.1754_1757delTAAC, p.T586Vfs*18) , and 1 nonsense mutation (c.C503G, p.S168X) , and the first 3 above mentioned mutations were previously unreported novel mutations.Conclusion:Five mutations were identified in the 5 families with mild phenotypes of NF1, including 3 novel mutations, which expand the mutational spectrum of NF1.

Objective This study aimed to systematically compare the effects of flapless and flapped implantations on the surrounding soft tissues of dental implants.Methods Nine databases were searched,including PubMed,Em-base,Cochrane Library,Web of Science,Clinical Trials,OpenGrey,OpenDoar,Scopus,and Ovid,from January 1,2013,to August 27,2023.Randomized controlled trials comparing flapless implantation with flapped implantation for restora-tion of missing teeth were included.Meta-analysis was conducted on studies that met the inclusion criteria by using Rev-Man 5.3 and Stata 14.0.Results A total of 1 245 articles were retrieved,and 17 studies were ultimately included.The results of Meta-analysis showed that flapless implanta-tion resulted in better healing of the soft tissues around the dental implants than flapped implantation.Moreover,flapless implantation showed superior changes in implant success rate[mean difference(MD)=1.06,95%confi-dence interval(CI)(1.02,1.10),P=0.004],the width of keratinized gingival changes[MD=0.10,95%CI(0.00,0.20),P= 0.04],and probing depth[MD=-0.60,95%CI(-0.67,-0.53),P<0.000 01],with statistically significant differences.The final combined results of modified plaque index[standardized mean difference(SMD)=-0.41,95%CI(-0.81,0.00),P= 0.05]and modified sulcus bleeding index[SMD=-0.44,95%CI(-0.78,-0.10),P=0.01]showed superiority over flapped implantation.The papillary presence index was higher in the flapless implantation group than in the flapped implantation group.No statistically significant differences were observed in plaque index and gingival indices changes between the two groups.Conclusion Flapless implantation can achieve higher implant success rate,smaller changes in the width of keratinized gingival,and smaller probing depths than flapped implantation.It also has advantages in terms of modified plaque index,modified sulcus bleeding index,and papillary presence index.

OBJECTIVETo investigate the impact of androgen receptor splice variant 7 (AR-V7) expression on overall survival for patients with metastatic prostate cancer.

METHODSThe data of 113 diagnosed metastatic prostate cancer patients from January 2002 to June 2010 were collected retrospectively, including patient's age at diagnosis, prostate-specific antigen (PSA) level at diagnosis,Gleason score, clinical stage, PSA nadir during hormonal therapy, the time to PSA nadir, vital status, survival time and cause of death. The expression of AR-V7 in prostate cancer tissue was detected by using immunohistochemical staining. The correlation of AR-V7 expression and patient clinicopathological characteristics in all patients were analysed using Student t-test or Chi-square test. Cox proportional hazards regression models were used to evaluate the predictive role of AR-V7 expression and patient characteristics for overall survival.

RESULTSThe median PSA nadir was 0.7 µg/L (ranged from 0.0 to 143.0 µg/L). The median time to PSA nadir was 8.1 months (ranged from 0.9 to 71.0 months). The follow-up was performed until March 12, 2014. During the follow-up period, 67 of 113 metastatic prostate cancer patients (59.3%) died and the median overall survival was 96 months (ranged from 5 to 135 months). The AR-V7 detection rate was 20.4% (23/113). The serum PSA level in patients with positively expression of AR-V7 was significantly higher than that without AR-V7 expression (t = 2.521, P = 0.013). Multivariate Cox regression analysis indicated that the expression of AR-V7 (HR = 2.421, P = 0.002) and time to PSA nadir (HR = 1.019, P = 0.022) were independent prognostic factors of overall survival for metastatic prostate cancer patients.

CONCLUSIONSThe expression of AR-V7 in prostate cancer tissues and time to PSA nadir during hormonal therapy are independent prognostic factors of overall survival for metastatic prostate cancer patients. Therapy targeting AR-V7 may improve prognosis of metastatic prostate cancer patients.

Adult ; Aged ; Aged, 80 and over ; Humans ; Male ; Middle Aged ; Neoplasm Metastasis ; Prognosis ; Proportional Hazards Models ; Prostate-Specific Antigen ; blood ; Prostatic Neoplasms ; diagnosis ; metabolism ; pathology ; Protein Isoforms ; metabolism ; Receptors, Androgen ; metabolism ; Retrospective Studies

Ultraviolet light(UV)-sensitive disorders refer to a group of diseases due to damages to the nucleotide excision repair mechanism which cannot effectively repair DNA damage caused by ultraviolet radiation. The inheritance pattern of such diseases, mainly including xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy, is autosomal recessive and known to involve 13 genes. As proteins encoded by such genes are involved in DNA repair and transcription pathways. There is overlap between the symptoms of such diseases, and their genotype - phenotype correlations are quite complex. To facilitate genetic and prenatal diagnosis for such diseases, a summary of the research progress is provided, which mainly focused on mutation research and genotype - phenotype correlation studies. We also propose a strategy for their genetic diagnosis based on recent findings of our group.
Biomedical Research ; methods ; trends ; Cockayne Syndrome ; genetics ; DNA Damage ; DNA Repair ; genetics ; Genetic Predisposition to Disease ; genetics ; Humans ; Skin ; metabolism ; pathology ; radiation effects ; Trichothiodystrophy Syndromes ; genetics ; Ultraviolet Rays ; Xeroderma Pigmentosum ; genetics