Objective:To determine the prevalence and associates of hyperuricemia (HUA) among the middle- and older-aged population of the island and mountainous areas in Taizhou City of Zhejiang Province.Methods:A cross-sectional study was conducted on individuals aged 45 and above in the island and mountainous area of Taizhou City. The study included questionnaires, physical examinations, and laboratory tests. Data were primarily collected on sociodemographic characteristics, chronic disease history, lifestyle factors, waist circumference, blood pressure, and serum uric acid levels. The association between hyperuricemia and these factors was analyzed by logistic regression.Results:A total of 971 individuals were included in the study, comprising 468 from island and 503 from mountainous area. The prevalence of hyperuricemia was 17.9%, with a significantly higher prevalence in the island area (25.6%) compared to the mountainous area (10.7%). Stratified by gender and age, differences in the prevalence of hyperuricemia between island and mountainous areas were observed in males aged 55 to 64, females aged 45 to 54, 55 to 64, 75 and above (all P<0.05). Multiple logistic regression analysis showed that high intake of sea food (>3 times/week) was positively associated with hyperuricemia ( OR=2.10, 95% CI:1.33-3.34). Furthermore, separate regionally stratified logistic regression analyses showed that in the island area, male gender ( OR=3.15, 95% CI:1.78-5.66), central obesity ( OR=2.38, 95% CI:1.46-3.93), and hypertriglyceridemia ( OR=2.00, 95% CI:1.22-3.30) were positively correlated with hyperuricemia (all P<0.05). In the mountainous area, the age group of 65 and above ( OR=3.50, 95% CI:1.09-12.50), male ( OR=6.79, 95% CI:2.87-17.81), those employed in enterprises and institutions ( OR=6.57, 95% CI:1.92-23.73) and hypertension ( OR=3.68, 95% CI:1.66-8.87) were positively correlated with hyperuricemia (all P<0.05). Conclusions:The prevalence of hyperuricemia among the middle- and older-aged population in the island of Taizhou City is significantly higher than that in the mountainous areas. Targeted comprehensive behavioral interventions such as routine screening of chronic diseases, low-fat diet, alcohol control, reduced seafood intake, enhanced exercise, weight management, and blood pressure control are warranted.

OBJECTIVE: To explore the genetic basis of a patient with suspected Oculocutaneous albinism (OCA). METHODS: An OCA patient presented at the West China Second Hospital of Sichuan University and his mother were selected as the study subjects. Peripheral blood samples were collected for the extraction of, genomic DNA, and whole exome sequencing (WES) was carried out. Candidate variants were verified through specific primer amplification, Sanger sequencing, and agarose gel electrophoresis. Bioinformatic analysis and pathogenicity rating were conducted on the candidate variants. This study has been approved by the Medical Ethics Committee of West China Second Hospital (No. 2024-228). RESULTS: Genetic testing revealed that the patient had harbored variants in exon 1 of the TYR gene, including a c.157G>T (p.G53C) missense variant and a c.609dup (p.A204fs) frameshifting variant. Specific primer amplification and Sanger sequencing, combined with agarose gel electrophoresis, confirmed that these are compound heterozygous variants. Based on the guidelines from the ACMG, the c.157G>T was rated as likely pathogenic, and c.609dup was rated as pathogenic. Alphafold3 predicted that the variant proteins had significant structural changes. CONCLUSION The patient was diagnosed with OCA due to compound heterozygous variants of the TYR gene. Discovery of the c.609dup variant has enriched the mutational spectrum of OCA and provided a basis for genetic counseling and prenatal diagnosis for this patient.
Humans ; Albinism, Oculocutaneous/enzymology* ; Male ; Female ; Monophenol Monooxygenase/chemistry* ; Base Sequence ; Mutation, Missense

Objective:To investigate the functional characteristics of the prefrontal cortex in patients with schizophrenia (SCZ) during resting state and analyze its association with clinical symptoms.Methods:Twenty-eight hospitalized patients with SCZ (SCZ group) were selected from November 2023 to May 2024, and 28 healthy controls (HC group) were recruited concurrently. By using functional near-infrared spectroscopy (fNIRS) technology, data on the concentration changes of oxygenated hemoglobin (HbO) and deoxygenated hemoglobin (HbR) in the prefrontal cortex during resting state were collected from all subjects to measure cortical hemodynamic activity. Regional activation values and functional connectivity (FC) values among brain areas were analyzed. Clinical symptoms in patients were assessed using the positive and negative syndrome scale (PANSS).SPSS 25.0 software was employed for statistical analysis. Between-group comparisons were performed using independent samples t-tests or Mann-Whitney U tests. Spearman correlation analysis and general linear regression models were applied to examine relationships between prefrontal cortical functional characteristics and clinical symptoms. Results:The levels of HbO in the right inferior frontal gyrus and left frontal pole area were significantly higher in the SCZ group (1.5 (1.0, 3.0)μmol/L, 1.0 (1.0, 2.8)μmol/L) than those in the HC group (-0.01 (-0.05, 0.02)μmol/L, -0.02 (-0.07, 0.03)μmol/L) ( Z=-6.46, -6.50, both P<0.01). The levels of HbR in the bilateral dorsolateral prefrontal cortex were significantly higher in the SCZ group (0.02 (-0.01, 0.07)μmol/L, 0.01 (-0.01, 0.03)μmol/L) than those in the HC group (-0.01 (-0.03, 0.01)μmol/L, -0.01 (-0.02, 0.01)μmol/L) ( Z=-2.46, -1.98, both P<0.05).The SCZ group showed significantly higher HbO-based FC values in the frontal pole-temporal pole (0.49±0.21) and temporal pole-dorsolateral prefrontal cortex (0.36±0.25) compared to the HC group (0.33±0.18, 0.15±0.19) ( t=3.02, 3.44, both P<0.01). Conversely, the SCZ group exhibited significantly lower HbR-based FC in the frontal pole-inferior frontal gyrus (0.15±0.13) and inferior frontal gyrus-temporal pole (0.27±0.37) compared to the HC group (0.33±0.26, 0.77±0.48) ( t=-3.17, -4.23, both P<0.01). Correlation analysis revealed that in the SCZ group, the level of HbO in the right inferior frontal gyrus was positively correlated with negative symptoms, positive symptoms, excitement/hostility, and PANSS total score ( r=0.45-0.64, all P<0.05), and the level of HbO in the left frontal pole area was positively correlated with excitement/hostility and PANSS total score ( r=0.57, 0.50, both P<0.01), while the FC value between the frontal pole and temporal pole areas showed a negative correlation with excitement/hostility ( r=-0.39, P<0.05). Regression analysis demonstrated that, the HbO concentration in the right inferior frontal gyrus significantly positively predicted PANSS total score, positive symptoms, and negative symptoms ( β=0.70, 0.64, 0.55, all P<0.01).The HbO concentration in the left frontal pole area significantly positively predicted excitement/hostility ( β=0.77, P<0.01).The frontal pole-temporal pole HbO-based FC significantly negatively predicted excitement/hostility scores ( β=-0.42, P<0.01). Conclusion:Patients with SCZ exhibit hyperactivation of localized prefrontal cortex brain regions and dysfunction of functional connectivity during resting state, which are significantly associated with core clinical symptoms including positive, negative, and excitement/hostility symptoms.

Objective To explore the intervention effect of the"5E"rehabilitation nursing model(Education,Encouragement,Evaluation,Exercise,and Employment)for patients with primary aldo-steronism(PA).Methods A total of 120 patients diagnosed as PA in the Cardiology Department of the Third People's Hospital of Qingdao from January 2022 to June 2024 were randomly divided into control group(n=60)and observation group(n=60).The control group received routine nursing in-tervention,while the observation group received the"5E"rehabilitation nursing intervention.Blood test indicators,clinical manifestations(blood pressure,fatigue level),score of quality of life,and nursing satisfaction rate were compared between the two groups.Results After intervention,blood so-dium,plasma aldosterone,blood creatinine,urea nitrogen,uric acid,systolic blood pressure,dias-tolic blood pressure,and scores of fatigue degree in the observation group were significantly lower than those in the control group,while blood potassium level and score of quality of life were significantly higher than those in the control group(P＜0.05).The nursing satisfaction rate in the observation group was 96.67％,which was significantly higher than 80.00％in the control group(P＜0.05).Conclusion Implementation of the"5E"rehabilitation nursing intervention during hospitalization for PA patients can improve their blood indicators and clinical symptoms,alleviate the severity of the dis-ease,and enhance their qualities of life.

Congenital orofacial cleft, the most common birth defect in the maxillofacial region, exhibits a wide range of prognosis depending on the severity of deformity and underlying etiology. Non-syndromic congenital orofacial clefts typically present with milder deformities and more favorable treatment outcomes, whereas syndromic congenital orofacial clefts often manifest with concomitant organ abnormalities, which pose greater challenges for treatment and result in poorer prognosis. This consensus provides an elaborate classification system for varying degrees of orofacial clefts along with corresponding diagnostic and therapeutic guidelines. Results serve as a crucial resource for families to navigate prenatal screening results or make informed decisions regarding treatment options while also contributing significantly to preventing serious birth defects within the development of population.
Humans ; Cleft Lip/diagnosis* ; Cleft Palate/diagnosis* ; Consensus ; Prenatal Diagnosis ; Female

ObjectivesTo investigate the molecular epidemiological characteristics of HIV-1 infection among men who had sex with men (MSM) in Taizhou City, Zhejiang Province, and to provide a scientific reference for acquired immune deficiency syndrome prevention and control efforts. MethodsThe research subjects were all newly reported MSM population in Taizhou City from 2020 to 2023. Blood samples without antiviral therapy were collected. The HIV-1 pol gene was amplified and sequenced, and the sequences were submitted to the Stanford University drug resistance database to identify the mutation sites and drug resistance. MEGA 11.0 software was used to analyze the nucleic acid sequences, construct phylogenetic tree, and calculate genetic distance of gene sequences. The molecular transmission network diagram of HIV-1 was constructed using Cytoscape_v3.10.1, and the influencing factors of network entry were analyzed by logistic regression. ResultsA total of 363 newly reported HIV-infected MSM patients were included, with a median age [M (P₂₅, P₇₅)] of 34 (26,47) years old. The majority had an educational level of junior high school or below (55.65%). A total of eight subtypes were found, mainly CRF07_BC and CRF01_AE. The primary drug resistance rate was 10.47% (38/363). The optimal molecular network gene distance was 0.019, with a network access rate of 42.70% (155/363), and a total of 47 molecular clusters were formed. Multivariate logistic analyses showed that compared with the CRF01_AE subtype, the clustering risk of CRF07_BC subtype was higher (OR=1.916, 95%CI: 1.191‒3.109), cases with drug resistance had a higher risk of cluster formation than those without drug resistance (OR=2.011, 95%CI: 1.006‒4.080), and recent infected patients had a lower risk of entering the largest molecular cluster than long-term infected patients (OR=0.376, 95%CI: 0.137‒0.928). ConclusionThe newly diagnosed infections among the MSM population are active in Taizhou City, Zhejiang Province, with a high level of primary drug resistance. Individuals carrying drug-resistant strains are more likely to cluster. Drug resistance monitoring should be strengthened to prevent further spread of drug-resistant strains in the network.

Objective:To explore the genetic basis of a patient with suspected Oculocutaneous albinism (OCA).Methods:An OCA patient presented at the West China Second Hospital of Sichuan University and his mother were selected as the study subjects. Peripheral blood samples were collected for the extraction of genomic DNA, and whole exome sequencing (WES) was carried out. Candidate variants were verified through specific primer amplification, Sanger sequencing, and agarose gel electrophoresis. Bioinformatic analysis and pathogenicity rating were conducted on the candidate variants. This study has been approved by the Medical Ethics Committee of West China Second Hospital (No. 2024-228).Results:Genetic testing revealed that the patient had harbored variants in exon 1 of the TYR gene, including a c. 157G>T (p.G53C) missense variant and a c. 609dup (p.A204fs) frameshifting variant. Specific primer amplification and Sanger sequencing, combined with agarose gel electrophoresis, confirmed that these are compound heterozygous variants. Based on the guidelines from the ACMG, the c. 157G>T was rated as likely pathogenic, and c. 609dup was rated as pathogenic. Alphafold3 predicted that the variant proteins had significant structural changes. Conclusion:The patient was diagnosed with OCA due to compound heterozygous variants of the TYR gene. Discovery of the c. 609dup variant has enriched the mutational spectrum of OCA and provided a basis for genetic counseling and prenatal diagnosis for this patient.

Objective:To describe the prevalence of non-alcoholic fatty liver disease (NAFLD) in people living with HIV in Taizhou, Zhejiang Province, and identify the factors associated with NAFLD in this population.Methods:A cross-sectional survey was conducted from 2021 to 2023. Based on the routine follow-up management of people living with HIV, liver ultrasound examination, physical examination and laboratory test were conducted to collect the information about the diagnosis of NAFLD and biochemical indicators in this population. Logistic regression model was used to identify the factors associated with the prevalence of NAFLD.Results:In the 2 550 study participants, the prevalence of NAFLD was 21.5% (548/2 550), abnormal liver function was found in 23.7% (604/2 550) of the study participants, and liver fibrosis was found in 45.2% (1 152/2 550) of the study participants. Multivariable logistic regression analyses showed that being women (a OR=0.55, 95% CI: 0.42-0.73), being overweight or obese (a OR=3.22, 95% CI: 2.59-4.01), having diabetes (a OR=3.37, 95% CI: 2.15-5.29), having dyslipidemia (a OR=2.96, 95% CI: 2.25-3.89), CD4 + T lymphocyte (CD4) counts <200 cells/μl (a OR=0.61, 95% CI: 0.42-0.88), and receiving Efavirenz (EFV) + Lamivudine (3TC) + Zidovudine (AZT) for antiretroviral therapy (ART)(a OR=1.52, 95% CI: 1.17-1.98) were associated with NAFLD. NAFLD was positively associated with abnormal liver function (a OR=2.01, 95% CI: 1.60-2.52) and inversely associated with liver fibrosis (a OR=0.76, 95% CI: 0.59-0.98). The 45-59 age group (a OR=7.05, 95% CI: 5.65-8.80), CD4 counts <200 cells/μl (a OR=1.45, 95% CI: 1.06-1.97) and receiving Nevirapine (NVP)+3TC+AZT of ART (a OR=1.87,95% CI: 1.44-2.43) were the main factors associated with liver fibrosis. Conclusions:The prevalence of NAFLD in people living with HIV Taizhou was more than 20.0%, with a significant proportion of them having abnormal liver function and liver fibrosis. Being overweight or obese, suffering from diabetes, having dyslipidemia, low CD4 counts, and receiving specific ART were associated with NAFLD. NAFLD, CD4 counts and specific ART were the main factors associated with abnormal liver function and liver fibrosis.

Objective:To analyze the incidence and risk factors of malignant tumors among HIV-infected patients in Taizhou, Zhejiang Province.Methods:The data were collected from the China Information System for Disease Control and Prevention and the Taizhou Chronic Disease Information Management System. A retrospective cohort study design was used. The subjects were HIV-infected patients who had their household registration in Taizhou from 2005 to 2023 and participated in the follow-up. The observation period was until December 31, 2024. The standardized incidence ratios (SIR) of malignant tumors among HIV-infected patients were analyzed. Cox proportional hazards regression model was used to analyze the influencing factors of malignant tumor incidence.Results:A total of 3 593 HIV-infected patients were included, of whom 292 had malignant tumors. The proportions of AIDS-defining malignancies and non-AIDS-defining malignancies were 12.33% (36/292) and 87.67% (256/292), respectively. The proportion of malignant tumors before and after AIDS confirmation was 43.49% (127/292) and 56.51% (165/292), respectively. 3 466 HIV-infected patients were included in the follow-up cohort, with a total follow-up of 24 968.59 person-years. The incidence rate of malignant tumors in patients with HIV infection was 658.46 per 100 000 (SIR=1.89, 95% CI: 1.61-2.20). The SIR of malignant tumors showed an upward trend with the increase of time. The results of Cox proportional hazards regression model analysis showed that HIV-infected patients in the age groups of 45-59 and ≥60 years (a HR=2.58, 95% CI: 1.26-5.28; a HR=5.00, 95% CI: 2.38-10.51) were more likely to develop malignant tumors. HIV-infected patients with an educational level of senior high school or above (a HR=0.52, 95% CI: 0.29-0.95) and those in the first CD4 +T lymphocyte/CD8 +T lymphocyte count ratio ≥0.5 (a HR=0.52, 95% CI: 0.28-0.97) were less likely to develop malignant tumors. Conclusions:From 2005 to 2023, the incidence of malignant tumors among HIV-infected people in Taizhou was higher than that of the general population, and most of them were non-AIDS-defining malignancies. It is necessary to strengthen the early screening and diagnosis of malignant tumors among HIV-infected patients.

Objective:To investigate the life expectancy of antiretroviral treatment (ART) HIV-infected patients and its trends in Taizhou City, Zhejiang Province from 2014 to 2023.Methods:The data were obtained from the China Information System for Disease Control and Prevention , and the study subjects were HIV-infected patients received ART in Taizhou City. An abbreviated life expectancy table was prepared based on Chiang's method to analyze the differences in life expectancy of HIV-infected patients receiving ART in Taizhou City with different characteristics in 2023 and to compare the trends in life expectancy of patients with different CD4 +T lymphocytes (CD4) counts at the time of initiation of ART from 2014 to 2023. Results:A total of 4 825 patients were enrolled in this study, with a cumulative follow-up of 276 648.56 person-years, and a case-fatality rate of 18.07 (95% CI: 16.48-19.65) /1 000 person-years. In 2023, male patients had lower life expectancy than females in all age groups, and those who were married had higher life expectancy than those who were unmarried and those who were divorced or widowed; patients who had been transmitted heterosexually had lower life expectancy than those who had been transmitted through homosexual transmission. Patients with different CD4 counts at the time of initiating ART had different life expectancies in all age groups. The life expectancy of patients with CD4 counts ≥350 cells/μl when initiating the treatment was higher than that of patients with CD4 counts <200 cells/μl in all age groups. The life expectancy of HIV-infected patients on ART at age 20 and 50 increased from 39.0 years and 19.1 years in 2014 to 46.0 years and 24.1 years in 2023, respectively, with an average annual percentage change of 2.43% (95% CI: 0.81%-4.07%) and 3.34% (95% CI: 1.17%-5.56%). The change in life expectancy was similar for patients with CD4 counts ≥350 cells/μl and 200-349 cells/μl at the time of initiating treatment in 2016-2023, and was higher than that for patients with CD4 counts <200 cells/μl. The rate of increase in life expectancy for patients at age 50 was higher than that at age 20 for all CD4 counts. Conclusions:The rising trend of life expectancy among HIV-infected patients on ART in Taizhou City is obvious. But the disparity between patients with different characteristics is obvious, especially among patients with baseline CD4 counts <200 cells/μl, suggesting the importance of expanded testing, early diagnosis and timely initiation of ART to improve the life expectancy of HIV-infected patients.