The Ehlers-Danlos syndrome(EDS)is a rare inherent connective tissue disorder.The prev-alence of EDS in the population is estimated at one out of ten thousand to one out of a hundred thousand.The vascular EDS(vEDS)are rare among the subtypes but are the worst in prognosis.The article reports a case of vEDS admitted to the hospital.The patient was a young man complaining of a sudden onset of aphasia in right hemiparalysis and severe left abdominal pain for unknown reasons.The diagnosis was made after the genetic testing.The patient suffered from vEDS.Then,the multi-disciplinary team(MDT)made a treatment plan tailored to this young patient.The complexity in classification and delusive presentations of the EDS make the correct diagnosis very challenging.This article hopes to report this case and to share the experiences to the bet-ter understanding of this disease.

Objective:To analyze the disease burden in middle-aged and elderly population aged ≥55 in Shenzhen from 2016 to 2030 and provide evidence for the development of healthy aging strategies.Methods:The years of life lost (YLL), years lost due to disability (YLD), and the disability-adjusted life year (DALY) in this population from 2016 to 2022 were calculated. Joinpoint log-linear regression model was used to analyze the time trend. Bayesian age-period-cohort model and grey system model were used to predict YLL, YLD, and DALY in this population in 2030.Results:From 2016 to 2022, the crude DALY rate showed a transient fluctuation in age group 55-74 years, but a pronounced increase in age group ≥85 years. The proportions of YLL and YLD due to non-communicable diseases in all age groups was considerably higher than those due to communicable and nutritional diseases and injuries. In 2022, in all age groups, the YLL due to neoplasms (55-74 years old) and cardiovascular disease (≥75 years old) ranked first, and the YLD due to musculoskeletal disorder ranked first. By 2030, the causes of YLL and YLD ranking first in each age group would be remained, while the ranks of some causes would increase.Conclusions:The age specific characteristics of current and predicted disease burden differed in individuals aged ≥55 years. Therefore, it is necessary to allocate social and medical resources according to the disease burden pattern.

AIM: To establish individualized drug therapy strategy for patients with rejection and hyperglycemia after liver transplantation. METHODS: Clinical pharmacist collaborated with the surgeons and participated in the diagnosis and treatment of rejection and hyperglycemia after liver transplantation. Taking together liver function, therapeutic drug monitoring, drug-drug interactions between tacrolimus and wuzhi capsule, individualized drug therapy was adapted to improve the prognosis. RESULTS: The patient recovered well and survived in good health till now. CONCLUSION: It is highly suggested that clinical pharmacists actively involved in treatment of more severe and difficult-to-treat disease and design the individualized dosing regimens. This will largely contribute in reduced adverse drug reaction, improved safety and effectiveness in drug use as well as the quality of life in the "post-transplantation era".

Objective:To study the epidemic and etiologic characteristics of influenza virus(Flu)and respiratory syncytial virus (RSV) infections in outpatient influenza-like illness(ILI)cases of children under 10 years of age in Gansu province in 2018 And to provide evidences for diagnosis, treatment, control and prevention of Flu and RSV infections in Gansu province.Methods:A total of 8 559 pharyngeal swab samples of ILI outpatients cases were tested with real-time fluorescent PCR to detect Flu, 3 436 of which were detected by RT-PCR for RSV.Results:Of the 8559 specimens, 934 (10.91%) samples were positive for Flu. Among them, 431 were positive for H1N1, 70 were positive for H3N2, 428 were positive for Flu B, 5 were mixed; 320 of the 3436 (9.31%, ) samples were positive for RSV. There were significant differences in the positive rates of Flu and RSV among 14 cities and prefectures ( χ2=56.99, χ2=263.34, Р< 0.01). Influenza reached its peak in January 2018 with a positive rate of 50.70%. Flu B/Yamagata strain (53.53%) and A H1N1 (39.93%) were prevalent simultaneously. The peak of RSV epidemic was from February to April, the positive rate was 13.98%. The RSV positive rate of children under 5 years of age was 10.11%, higher than that of children over 5 years of age was 6.94%. There was statistical significance ( χ2=7.67, Р<0.01). Conclusions:RSV and influenza viruses are the main pathogens in ILI cases of children under 10 years of age. There are epidemic peaks in winter and spring every year. It is suggested that the monitoring of RSV and the development and application of vaccine should be strengthened.

Objective:To evaluate the accuracy of diffusion weighted magnetic resonance imaging (DWI-MRI) combined with high resolution temporal bone CT (HRCT) in the location diagnosis of middle ear cholesteatoma and its value in the postoperative follow-up.Methods:134 patients with inital cholesteatoma and 22 patients with suspected recurrent cholesteatoma were selected for HRCT, conventional MRI and DWI examination. Based on the intraoperative and pathological diagnosis, DWI and HRCT images were combined to evaluate the consistency between the lesion location and invasion area of the initial cholesteatoma and intraoperative lesions. The results of HRCT and DWI in the diagnosis of recurrent middle ear cholesteatoma were statistically analyzed to evaluate their diagnostic efficacy.Results:The accuracy rate of DWI combined with HRCT was 90.3%.The sensitivity, specificity, positive predictive value and negative predictive value of HRCT and DWI in the diagnosis of recurrent middle ear cholesteatoma were 27.8%, 75.0%, 83.3%, 18.8% and 100%, 75.0%, 94.7% and 100%, respectively, and the Kappa values consistent with the pathological results were 0.024 and 0.843, respectively. Chi-square test confirmed that there were differences in the diagnosis between groups ( P<0.001). Conclusions:Combined with the high sensitivity of DWI and the high resolution of HRCT, the accuracy of preoperative positioning of the newly diagnosed cholesteatoma can be improved and surgery strategy can be guided. DWI is also of high diagnostic value for recurrent cholesteatoma in the middle ear.

OBJECTIVETo study the promoter methylation status of SFRP genes and the effect of 5- aza- 2'- deoxycytidine (5- Aza- CdR)induced apoptosis via Wnt/β- catenin pathway by demethylation in Jurkat cells.

METHODSJurkat cells were treated with different concentrations of 5- Aza- CdR. The cell proliferation level of Jurkat cells was detected by MTT assay. Apoptosis was evaluated by flow cytometry. Methylation- spcific PCR (MSP) was used to determine the methylation status of SFRP genes. The expressions of SFRP genes were detected by real time fluorescence quantitative PCR. The mRNA expression levels of survivin, c- myc and cyclin- D1 were analyzed by RT- PCR. Western blot was used to detect the levels of β-catenin protein.

RESULTSCompared with control group, the different concentrations of 5-Aza-CdR could significantly inhibit the proliferation of Jurkat cells in a time-dose dependent manner (P<0.05). After being treated by 5- Aza- CdR for 48 hours, the cell early apoptosis rate in experiment group was significantly higher than that in control group (P<0.05). The promoters of SFRP1, SFRP2, SFRP4, SFRP5 genes were hypermethylation state in the control group, after being treated by 5-Aza-CdR for 72 hours, the brightness of SFRP1, SFRP2, SFRP4, SFRP5 genes' methylation strips weakened in a dose- dependent manner. SFRP mRNA expression increased (P<0.05) when 5- Aza- CdR concentration increased, and the level of β- catenin protein was dampened in a dose- dependent manner (P<0.05). As compared to the control group, the mRNA expressions of associated apoptosis genes survivin, c-myc and cyclin- D1, respectively were obviously down- regulated in a dose- dependent manner (P<0.05).

CONCLUSIONThe effect of demethylation could up- regulate SFRP genes expressions by reversing its hypermethylation and induced apoptosis by down-regulation of β-catenin and associated apoptosis genes.

Apoptosis ; Azacitidine ; analogs & derivatives ; pharmacology ; Cell Proliferation ; DNA Methylation ; Down-Regulation ; Gene Expression ; Humans ; Intercellular Signaling Peptides and Proteins ; genetics ; Jurkat Cells ; Membrane Proteins ; genetics ; Promoter Regions, Genetic ; Wnt Signaling Pathway ; beta Catenin ; metabolism

Objective To investigate the relationship between a novel polymorphism of C5L2 gene and type 2 diabetes mellitus (T2DM) in Uygur population from Xinjiang region.Methods A novel single nucleotide polymorphism(SNP),698C＞T(P233L) was found using a polymerase chain reaction direct-sequencing method.C5L2 gene 698C ＞ T variant from 252 patients with T2DM and 747 healthy control subjects was detected by polymerase chain reaction and restriction fragment length polymorphism.Result Heterozygote carriers of the 698CT genotype were more frequent among T2DM patients than that among controls (0.107 vs 0.036,x2 =18.576,P＜0.01) in the Uygur population. After adjustment of confounding factors such as sex,age,smoking,alcohol consumption,and hypertension,as well as serum levels of triglyceride,total cholesterol,low-density lipoproteincholesterol,and high-density lipoprotein-cholesterol,the difference remained significant ( P＜0.01,OR =3.373,95％ CI 1.736-6.553 ).Conclusion The CT genotype of the C5L2 gene might be a risk factor of T2DM in Uygur nationality population in Xinjiang.

Objective To investigate prevalence and risk factors of peripheral artery disease (PAD), metabolic syndrome (MS) and peripheral artery disease complicated with metabolic syndrome among Kazakh adults lived in Xinjiang Yili prefecture. Methods Four-stage cluster sampling method was used to select adults aged 35 years and over for the study from six cities and prefectures of Xinjiang. All the participants were interviewed with questionnaire to collect their demographic characteristics. Physical checksup and blood biochemical measurements were performed for all of them, as well as blood pressure was measured in their lower legs and arms to calculate ankle brachial pressure index ( ABPI), a ratio of the blood pressure in the lower legs to that in the arms. Only data of Kazakh adults in Yili prefecture were analyzed in this paper, including prevalence and risk factors for PAD and MS, as well as their relationship.The patients with PAD were divided into two groups, one complicated with MS and the other without it Logistic regression analysis was used to identify potential risk factors for PAD and MS and their combination.Results A total of 1365 adult Kazakh people were surveyed. Prevalence of MS was 23.7 percent, 30.4 percent for men and 19.0 percent for women, respectively, and that of PAD was 9. 4 percent, 7.0 percent for men and 11.0 percent for women, respectively. Mean age in patients of PAD complicated with MS was older than that in those without MS (t=-5.348, P＜0.01). Risk of PAD complicated with MS in Kazakh people associated with gender ( men), age, systolic pressure, diastolic pressure and blood glucose level.(P＜0.05). Conclusions Both prevalence of PAD and MS are significantly higher among Kazakh people in Yili prefecture of Xinjiang, and increase with age. Prevalence of PAD is significantly higher in those with MS than that in those without MS. Risk factors of PAD complicated with MS include gender(men), age,systolic pressure, diastolic pressure and blood glucose level.

Objective To study prevalence of metabolic syndrome (MS) , it's components and hyperuricemia (HUA) among Kazakh people in Xinjiang Uighur autonomous region, China. Methods A cross-sectional survey was conducted among Kazakh people aged 35 years and over in seven prefectures of Xinjiang, including Urumqi, Kelamayi (Karamay) , Fukang, Tulufan (Turpan), Hetian (Hotan) , Aletai (Altay) and Yili during October 2007 to March 2010, with a four-stage cluster sampling, the total sample size were 4094. Through the methods of questionnaire survey, physical examination, biochemical examination and so on, to study prevalence of MS in HUA and it's components by blood biochemical examinations. Results A total of 3915 Kazakh adult people, equal number of men and women, were surveyed, with a response rate of 95. 63 percent. Overall prevalence of HUA was 3. 96 percent( 155/3915 ) , 6.02 percent for men and 2. 03 percent for women(114/1894 and 41/2021) , respectively, with statistically significant difference ( P ＜ 0.05 ). Prevalence of MS was 39.47 percent in those with HUA and 22. 53 percent in those without HUA (45/114 and 401/1780), respectively (P ＜ 0.01). Among women, prevalence of MS was 46. 34 percent in those with HUA and 16. 11 percent in those without HUA( 19/41 and 319/1980), respectively (P＜0. 01). Prevalence of high blood pressure, hypertriglyceridemia, lower blood high-density lipoprotein cholesterol (HDL-C) and central obesity were 59.65 percent, 42.11 percent,32.46 percent, 7. 89 percent and 79. 82 percent in those with HUA, respectively, with prevalence of hyperglyceridemia and central obesity significantly higher than in those of non-HUA ( P ＜ 0. 05 ). Among women, prevalence high blood pressure, hypertriglyceridemia, lower blood HDL-C and central obesity were 48.78 percent, 39.02 percent, 41.46 percent, 2.44 percent and 78.05 percent, respectively, in HUA group, with prevalence of hyperglyceridemia, lower blood HDL-cholesterol and central obesity significantly higher than in those of non-HUA ( P ＜ 0. 05 ). Conclusions Prevalence of MS was higher in Kazakh people suffered with HUA than those without HUA, as well as prevalence of components of MS, suggesting that prevention and treatment for HUA is necessary, which can reduce MS and its components in the region.

Four-stage selected random samples were used to analyze the prevalence and distributing feature of hyperuricemia and gout in 13 559 Han,Uighur,and Hazakh adults in Xinjiang. The prevalence of hyperuricemia was 11.00%,3.27%,and 3.94% respectively in Han,Uighur,and Hazakh populations,and 1.32%, 0.65%,and 0.70% for gout,with statistically significant difference among three groups(all P＜0.05). No-conditional logistic regression analysis showed that nationality,body mass index,renal function,and serum lipid were risk factors of hyperuricemia,while female and physical activity were protective factors. Eating seafood and animal visceral organs were independent risk factors of hyperuricemia in Han population. Eating animal visceral organs and drinking alcohol were independent risk factors of hyperuricemia in Hazakh population.