This study was conducted retrospectively on a cohort of 68 patients with steroid 5 α-reductase 2 (SRD5A2) deficiency and 46,XY disorders of sex development (DSD). Whole-exon sequencing revealed 28 variants of SRD5A2 , and further analysis identified seven novel mutants. The preponderance of variants was observed in exon 1 and exon 4, specifically within the nicotinamide adenine dinucleotide phosphate (NADPH)-binding region. Among the entire cohort, 53 patients underwent initial surgery at Sichuan Provincial People's Hospital (Chengdu, China). The external genitalia scores (EGS) of these participants varied from 2.0 to 11.0, with a mean of 6.8 (standard deviation [s.d.]: 2.5). Thirty patients consented to hormone testing. Their average testosterone-to-dihydrotestosterone (T/DHT) ratio was 49.3 (s.d.: 23.4). Genetic testing identified four patients with EGS scores between 6 and 9 as having this syndrome; and their T/DHT ratios were below the diagnostic threshold. Furthermore, assessments conducted using the crystal structure of human SRD5A2 have provided insights into the potential pathogenic mechanisms of these novel variants. These mechanisms include interference with NADPH binding (c.356G>C, c.365A>G, c.492C>G, and c.662T>G) and destabilization of the protein structure (c.727C>T). The c.446-1G>T and c.380delG variants were verified to result in large alterations in the transcripts. Seven novel variations were identified, and the variant database for the SRD5A2 gene was expanded. These findings contribute to the progress of diagnostic and therapeutic approaches for individuals with SRD5A2 deficiency.
Humans ; 3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics* ; Disorder of Sex Development, 46,XY/blood* ; Male ; Membrane Proteins/genetics* ; Child, Preschool ; Child ; Retrospective Studies ; Adolescent ; Female ; Mutation ; Testosterone/blood* ; Infant ; Dihydrotestosterone/blood*

Objective To explore the changes of plasma metabolites in Uygur and Kazak patients with type 2 diabetes mellitus(T2DM)and people with normal glucose tolerance(NGT),construct the profile of different metabolites and analyze different metabolic pathways.Methods Plasma samples of T2DM and NGT from Uygur and Kazak were collected for detection.Ultra-high performance liquid chromatography tandem quadrupole time-of-flight mass spectrometry was used for detection.MetaboAnalyst 5.0 was used to analyze the data,and the screening conditions were P＜0.05 and fold change(FC)＜0.90 or FC＞1.10.We used The Kyoto Encyclopedia of Genes and Genomes database to enrich and explore the metabolic pathways of different metabolites.Results Compared with the Uighur NGT group,there are 109 differential metabolites in the T2DM group,and 43 unique differential metabolites are mainly concentrated in five pathways,such as phenylalanine biosynthesis,tyrosine biosynthesis,and tryptophan metabolism.Compared with the NGT group,Kazak T2DM has 86 differential metabolites,and 28 unique differential metabolites are mainly enriched in the urea cycle,arginine,and proline metabolism(impact＞0.10,P＜0.05).Conclusion In this study,the plasma metabolic profile of T2DM patients was constructed,and the unique metabolites of T2DM in Uygur and Kazak were screened out,which provided potential biomarkers for early prevention of T2DM.

Objective: To determine the characteristics and progress of the visual acuity and refractive state of schoolchildren in Huangzhong District, Xining City, Qinghai Province in China. Methods: Cohort study. Department of Ophthalmology, Beijing Children's Hospital carried out a cohort study by collecting the visual acuity and refractive state of Grade 1-5 schoolchildren among 16 primary schools in Huangzhong District, Xining City, Qinghai Province in September 2020 and July 2021. Cycloplegic retinoscopy with eye drop which contained tropicamide (0.5%) and phenylephrine hydrochloride (0.5%) was performed in children with low vision(<1.0). Myopia was defined as the spherical equivalent (SE) ≤-0.5 D after cycloplegic retinoscopy. Measurement data was analyzed by t-test and enumeration data was analyzed by χ² test. Multiple linear regression was used to analyze the influencing factors. Results: The 2 489 individuals with repeated tests in two years were included in the follow-up study, among whom the prevalence of myopia was 26.24%(653/2 489) in 2020, while 32.94% (820/2 489)respectively in 2021. The incidence of myopia in one school year from grades 1 to 5 was 11.19%(47/420), 5.44%(21/386), 6.39%(25/391), 11.52%(44/382) and 11.67%(30/257). The average SE of children in all grades in 2021 increased negatively from the previous year (Grade 1 to Grade 5 increased respectively: 0.40 D, 0.69 D, 0.62 D, 0.52 D and 0.37 D). Conclusions: The prevalence of myopia among schoolchildren in Huangzhong District, Xining City, Qinghai Province was relatively high. There were two peaks of myopia incidence in the first, fourth and fifth grades. Female, age, and the baseline of SE were the related influencing factors for myopia progression.
Child ; Cohort Studies ; Female ; Follow-Up Studies ; Humans ; Mydriatics ; Myopia/epidemiology* ; Ophthalmic Solutions ; Phenylephrine ; Prevalence ; Prospective Studies ; Tropicamide

To address the increasing need for detecting and validating protein biomarkers in clinical specimens, mass spectrometry (MS)-based targeted proteomic techniques, including the selected reaction monitoring (SRM), parallel reaction monitoring (PRM), and massively parallel data-independent acquisition (DIA), have been developed. For optimal performance, they require the fragment ion spectra of targeted peptides as prior knowledge. In this report, we describe a MS pipe-line and spectral resource to support targeted proteomics studies for human tissue samples. To build the spectral resource, we integrated common open-source MS computational tools to assemble a freely accessible computational workflow based on Docker. We then applied the workflow to gen-erate DPHL, a comprehensive DIA pan-human library, from 1096 data-dependent acquisition (DDA) MS raw files for 16 types of cancer samples. This extensive spectral resource was then applied to a proteomic study of 17 prostate cancer (PCa) patients. Thereafter, PRM validation was applied to a larger study of 57 PCa patients and the differential expression of three proteins in prostate tumor was validated. As a second application, the DPHL spectral resource was applied to a study consisting of plasma samples from 19 diffuse large B cell lymphoma (DLBCL) patients and 18 healthy control subjects. Differentially expressed proteins between DLBCL patients and healthy control subjects were detected by DIA-MS and confirmed by PRM. These data demonstrate that the DPHL supports DIA and PRM MS pipelines for robust protein biomarker discovery. DPHL is freely accessible at https://www.iprox.org/page/project.html?id=IPX0001400000.

Objective: To investigate the azole susceptibility of Candida albicans ( C. albicans) from vulvovaginal candidosis patients and to analyze the relationship between ERG11 gene mutations in these isolates and azole resistance. Methods: Three hundred and two clinical isolates of Candida species were collected. Azole susceptibility was tested in vitro in microdilution studies. The ERG11 genes of 17 isolates of C. albicans (2 susceptibles, 5 dose-dependent resistants and 10 resistants) were amplified and sequenced. Results: Of the 302 isolates collected, 70.2% were C. albicans, of which 8.5%, 3.8% and 4.2% were resistant to fluconazole, itraconazole and voriconazole, respectively. In total, 27 missense mutations were detected in ERG11 genes from resistant/susceptible dose-dependent isolates. Among them, Y132H, A114S, and Y257H substitutions were most prevalent and were known to cause fluconazole resistance. G464S and F72S also have been proved to cause fluconazole resistance. Two novel substitutions (T285A, S457P) in hotspot regions were identified. Conclusions: Twenty seven mutations in the ERG11 gene were identified in azole-resistant C. albicans isolates, which indicated a possible relation with the increase in resistance to azole drugs and the recurrence of vulvovaginal candidosis. The relationship of two novel substitutions (T285A, S457P) with fluconazole resistance needs to be further verified by site-directed mutagenesis.

Objective To evaluate the effect of process management of laparoscopic apparatus in sterilization and supply center with operating room.Methods The process management of laparoscopic apparatus in sterilization and supply center with operating room (OR) included the use and the process after using the laparoscopic apparatus in OR,as well as the receiving,cleaning,quality determination,packaging,sterilization and sending process in SSC.Effect before and after process management was compared.Results The qualified rates of sterilization and equipment packaging of laparoscopic apparatus and the nursing satisfaction were respectively (99.60 ± 0.38) ％,(98.40 ± 0.64) ％,(98.90 ± 2.84) ％ after process management,and (97.80 ±0.86) ％,(92.80 ± 1.32) ％,(86.14 ± 3.26) ％ before,and the differences were statistically significant (t =32.83,65.92,20.02,respectively;P ＜0.01).The cycle time and fault rate of laparoscopic apparatus were (2.12 ± 0.34) h and (0.24 ± 0.11) ％ after process management,and (2.68 ± 0.66) h and (0.56 ± 0.47) ％before,and the differences were statistically significant (t =2.60,11.48,respectively;P ＜ 0.01).Conclusions Process management of laparoscopic apparatus in sterilization and supply center with operating room can not only assure the cleaning and sterilization quality,but also improve the working efficiency,job satisfaction and nursing quality in OR as well.

Objective To understand the knowledge,risk behaviors and HIV prevalence in men who have sex with men (MSM) in thirteen cities.Methods Target samples were chosen using the snowball-rolling method,with transverse KABP and HIV-antibody testing developed for those MSM in thirteen cities of Yunnan.Results A total of 1237 valid questionnaires and 1129 blood samples were collected.Basic knowledge on HIV and the rate of the response was 93.2％.81.1％ of the respondents had anal sex with male parmers in the last six months,of them 49.7％ could persistently using condoms in each anal sex episode.29.0％ of the respondents had sex with female partners in the last six months.The HIV prevalence among the studied MSM was 8.2％ and the prevalence of syphilis among them was 3.9％.Most risky factors of those MSM infected by HIV would include:not persistently use condom when having sex and co-infection of syphilis.Conclusion Both rates of HIV infection associated risk behaviors and HIV prevalence were high in MSM under study that called for more work on HIV prevention and control MSM in Yunnan.

ObjectiveTo establish the reference value of inhibin-A in the serum of pregnant women with gestational age from 15 to 20+6 weeks in Guangdong province,and assess the efficiency of inhibin-A and quadruple test in Down syndrome screening.Methods A total of 2802 singleton pregnancies receiving triple test screening in Guangzhou Women and Children's Medical Center from March 2008 to December 2010 were included in this study.Inhibin-A was measured by automatic enzyme-linked immunosorbent chemiluminescence assay. The concentration of inhibin-A was expressed as multiples of the median (MoM),and adjusted with maternal weight and gestational age.Parameters of SURUSS were used to recalculate the risk of Down syndrome.The efficacy of single marker and combination were evaluated by receiver operating characteristic curve and the area under the curve. Results(1) In normal singleton pregnancies,the median concentration of inhibin-A was 286.60,267.10,249.10,243.40,242.30 and 256.60 pg/ml respectively for each week of gestational age from 15 to 20+6 weeks.The distribution of inhibin-A in each gestational week was relatively stable.The mean concentration [(852.83±370.04) pg/ml] and MoM (2.82) of inhibin-A in twelve pregnant mothers with Down syndrome fetuses were significantly higher than those without [(293.28±149.46) pg/ml (t=5.37,P＜0.05) and 1,respectively].(2) The detection rate was 83.3％ (10/12) by using the quadruple test including free human chorionic gonadotropin-β,alphafetoprotein,unconjugated estriol and inhibin-A at false positive rate of 5.8％; while when the detection rate of triple test including alpha-fetoprotein,free human chorionic gonadotropin-β and unconjugated estriol was 83.3％,the false positive rate was 7.7％.When the false positive rate was set to 5.0％,the area under the curve of inhibin-A,alpha-fetoprotein,free human chorionic gonadotropin-β and unconjugated estriol was 63.7％,20.5％,46.1％ and 4.8％,respectively,and the relative area under the curve of routine triple test and quadruple test was 45.5％ and 63.1％,respectively.ConclusionsInhibin-A is suggested to be the most effective marker used for secondtrimester screening,which could be used for second trimester Down syndrome screening in Chinese population combined with existing three markers.

OBJECTIVETo investigate whether the polymorphism of DNA repair genes XPC (Ala499Val and Lys939Gln) and XPG (His1104Asp) is associated with the susceptibility to hepatocellular carcinoma (HCC).

METHODSA hospital-based case-control study was conducted in 500 cases with HCC and 507 controls. Genotypes of XPC and XPG were determined by real-time polymerase chain reaction with the TaqMan MGB probe.

RESULTSCompared to the CC genotype, the CT genotype and the TT genotype of XPC Ala499Val were not associated with the susceptibility to HCC (adjusted OR = 1.34, 95% CI: 0.85-2.12; adjusted OR = 1.30, 95% CI: 0.68-2.51, respectively). Compared to the AA genotype, the AC genotype and the CC genotype of Lys939Gln were not associated with the susceptibility to HCC (adjusted OR = 1.20, 95% CI: 0.78-1.85; adjusted OR = 1.81, 95% CI: 0.88-3.73, respectively). Compared to the CC genotype, the CG genotype and the GG genotype of XPG His1104Asp were not associated with the susceptibility to HCC (adjusted OR = 0.85, 95% CI: 0.56-1.27; adjusted OR = 1.12, 95% CI: 0.67-1.87, respectively) However, the stratified analysis revealed that the females with the AC+CC genotype of XPC Lys939Gln had increased risk of HCC compared to those with AA genotype (OR = 2.17, 95% CI: 1.01-4.64).

CONCLUSIONOur results suggest that XPC and XPG polymorphisms do not independently affect on the susceptibility to HCC, but the joint effect of C allele of XPC Lys939Gln and female may modify the risk of HCC.

Carcinoma, Hepatocellular ; genetics ; Case-Control Studies ; DNA Repair ; DNA-Binding Proteins ; genetics ; Endonucleases ; genetics ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Liver Neoplasms ; genetics ; Male ; Middle Aged ; Nuclear Proteins ; genetics ; Polymorphism, Single Nucleotide ; Transcription Factors ; genetics

OBJECTIVETo identify the prevalence and risk factors of diabetes and prediabetes in the community residents above 18 years old in the suburbs of Guangzhou.

METHODSBetween April and May in 2008, the residents above 18 years living in 6 communities of Guangzhou for 5 or more years were sampled with multistage clustering sampling. The sampled residents were surveyed by questionnaires, and physical examination and glucose determination were carried out.

RESULTSA total of 1532 residents were sampled. The incidence of diabetes mellitus in these community residents was 8.46%, and that of impaired glucose regulation was 6.59%. Age, body mass index, family history of diabetes mellitus, case history of hypertension, hyperlipidemia, hypertension and smoking were all the independent risk factors for impaired glucose regulation and diabetes mellitus.

CONCLUSIONDiabetes and prediabetes are prevalent in the community residents in Guangzhou. Controlling the risk factors such as obesity, hypertension, lipid metabolism disorder among the residents above 40 years with a family history of diabetes mellitus and hypertension is key to prevention of impaired glucose regulation and diabetes mellitus.

Adult ; Aged ; Blood Glucose ; metabolism ; China ; epidemiology ; Diabetes Mellitus, Type 2 ; blood ; epidemiology ; Female ; Humans ; Male ; Middle Aged ; Prediabetic State ; blood ; epidemiology ; Prevalence ; Risk Factors ; Suburban Health ; Surveys and Questionnaires