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  • 1
    Online Resource
    Online Resource
    Frontiers Media SA ; 2022
    In:  Frontiers in Aging Neuroscience Vol. 14 ( 2022-5-12)
    In: Frontiers in Aging Neuroscience, Frontiers Media SA, Vol. 14 ( 2022-5-12)
    Abstract: To investigate the effects of sport stacking on the overall cognition and brain function in patients with mild Alzheimer's disease (AD) and mild cognitive impairment (MCI). Methods A single-blind randomized controlled design was performed using sport stacking for 30 min, 5 days/week for 12 weeks. Forty-eight subjects with mild AD or MCI were randomly divided into the sport stacking group (T-mAD = 12, T-MCI = 12) and the active control group (C-mAD = 11, C-MCI = 13). Auditory Verbal Learning Test (AVLT), Alzheimer's Disease Cooperative Study–Activities of Daily Living scale (ADCS-ADL), Geriatric Depression Scale (GDS-30), and Pittsburgh Sleep Quality Index (PSQI) were performed, the level of amyloid β-protein-40 (Aβ-40), Aβ-42, brain-derived neurotrophic factor (BDNF), insulin-like growth factor-1(IGF-1), tumor necrosis factor-alpha (TNF-α), Interleukin-6 (IL-6), and soluble trigger receptor expressed on myeloid cells 2 (sTREM2) in plasma were tested, and brain functional connectivity in resting state and activation under finger movement task were analyzed by functional near-infrared spectroscopy (fNIRS). Results Thirty-nine patients completed the trial. After 4 weeks, we found a significant increase in AVLT score in T-MCI (6.36 ± 5.08 vs. −1.11 ± 4.23, p = 0.004), and T-mAD group (4.60 ± 4.77 vs. −0.11 ± 2.89, p = 0.039). After 12 weeks, there was a significantly improved in AVLT (9.64 ± 4.90 vs. −0.33 ± 6.10, p = 0.002) and ADCS-ADL (3.36 ± 3.59 vs. −1.89 ± 2.71, p = 0.003) in T-MCI. There was a significant improvement in AVLT (5.30 ± 5.42 vs. 0.44 ± 2.40) in T-mAD ( p & lt; 0.05). Plasma levels of BDNF were upregulated in both T-MCI and T-mAD, and IGF-1 increased in T-MCI ( P & lt; 0.05) compared to the control groups. The functional connectivity in MCI patients between DLPFC.R and SCA.R, SMA.L, and SCA.R was decreased. In contrast, in mAD patients, the brain regional function connection was increased between DLPFC.R and Broca's.L. The activation of channel 36 located in the left primary somatosensory cortex was significantly increased after 12-week training, which was correlated with the improved AVLT and the increase of BDNF. Conclusion Our findings suggested that sport stacking is effective for patients with MCI and mild AD, possibly through increasing the expression of neuroprotective growth factors and enhancing neural plasticity to improve neurocognitive performance. Clinical Trial Registration https://www.ClinicalTrials.gov , ChiCTR.org.cn , identifier: ChiCTR-2100045980.
    Type of Medium: Online Resource
    ISSN: 1663-4365
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2558898-9
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  • 2
    In: Marine Biotechnology, Springer Science and Business Media LLC, Vol. 24, No. 1 ( 2022-02), p. 97-115
    Type of Medium: Online Resource
    ISSN: 1436-2228 , 1436-2236
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2022
    detail.hit.zdb_id: 1479877-3
    SSG: 12
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  • 3
    In: ACS Omega, American Chemical Society (ACS), Vol. 6, No. 38 ( 2021-09-28), p. 25010-25018
    Type of Medium: Online Resource
    ISSN: 2470-1343 , 2470-1343
    Language: English
    Publisher: American Chemical Society (ACS)
    Publication Date: 2021
    detail.hit.zdb_id: 2861993-6
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  • 4
    Online Resource
    Online Resource
    Institute of Electrical and Electronics Engineers (IEEE) ; 2021
    In:  IEEE/ACM Transactions on Computational Biology and Bioinformatics Vol. 18, No. 4 ( 2021-7-1), p. 1384-1395
    In: IEEE/ACM Transactions on Computational Biology and Bioinformatics, Institute of Electrical and Electronics Engineers (IEEE), Vol. 18, No. 4 ( 2021-7-1), p. 1384-1395
    Type of Medium: Online Resource
    ISSN: 1545-5963 , 1557-9964 , 2374-0043
    Language: Unknown
    Publisher: Institute of Electrical and Electronics Engineers (IEEE)
    Publication Date: 2021
    detail.hit.zdb_id: 2158957-4
    SSG: 12
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  • 5
    In: Frontiers in Public Health, Frontiers Media SA, Vol. 10 ( 2022-11-9)
    Abstract: HIV-positive men who have sex with men (MSM) tend to have high syphilis incidence. Our objective is to evaluate the prevalence of syphilis and determine the risk factors of syphilis among HIV-positive MSM. Methods A cross-sectional study with convenience sampling was performed among HIV-positive MSM in six cities of Guangdong Province from June 2020 to August 2021. Participants completed a survey including social-demographic characteristics, sexual behaviors and self-reported syphilis, chlamydia, gonorrhea, herpes, human papillomavirus statuses after HIV diagnosis. Multivariate logistic regression was used to determine the factors associated with syphilis and sexually transmitted diseases (STD). Results Among 944 HIV-positive MSM, 141 (14.9, 95% CI: 12.7–17.2%) men had syphilis and 220 (23.3, 95% CI: 20.6–26.0%) men had STD. Multivariate analysis indicated that MSM who met male sexual partners mainly through traditional meeting places (spa or bath house, sauna, foot or body massage parlor) in the last 6 months [adjusted Odds Ratio (a OR ) = 2.91, 95% CI: 1.09–7.79], and who were diagnosed with herps after the HIV diagnosis (a OR = 3.79, 95% CI: 1.16–12.39) were more likely to have syphilis. In addition, MSM who met male sexual partners mainly through traditional meeting places in the last 6 month (a OR = 2.55, 95% CI: 1.01–6.42), and who had more than one male sexual partner in the last 6 months (a OR = 1.88, 95% CI: 1.17–3.02) were more likely to have STD. Conclusions The prevalence of syphilis and other STDs is relatively high among HIV-positive MSM in southern China. Routine syphilis screening as a part of HIV monitoring among HIV-positive MSM will have important epidemiological significance for the management of infected patients, and can help reduce the spread of syphilis.
    Type of Medium: Online Resource
    ISSN: 2296-2565
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2711781-9
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  • 6
    In: BMC Medical Genomics, Springer Science and Business Media LLC, Vol. 16, No. 1 ( 2023-04-05)
    Abstract: With advances in massive parallel sequencing (MPS) technology, whole-genome sequencing (WGS) has gradually evolved into the first-tier diagnostic test for genetic disorders. However, deployment practice and pipeline testing for clinical WGS are lacking. Methods In this study, we introduced a whole WGS pipeline for genetic disorders, which included the entire process from obtaining a sample to clinical reporting. All samples that underwent WGS were constructed using polymerase chain reaction (PCR)-free library preparation protocols and sequenced on the MGISEQ-2000 platform. Bioinformatics pipelines were developed for the simultaneous detection of various types of variants, including single nucleotide variants (SNVs), insertions and deletions (indels), copy number variants (CNVs) and balanced rearrangements, mitochondrial (MT) variants, and other complex variants such as repeat expansion, pseudogenes and absence of heterozygosity (AOH). A semiautomatic pipeline was developed for the interpretation of potential SNVs and CNVs. Forty-five samples (including 14 positive commercially available samples, 23 laboratory-held positive cell lines and 8 clinical cases) with known variants were used to validate the whole pipeline. Results In this study, a whole WGS pipeline for genetic disorders was developed and optimized. Forty-five samples with known variants (6 with SNVs and Indels, 3 with MT variants, 5 with aneuploidies, 1 with triploidy, 23 with CNVs, 5 with balanced rearrangements, 2 with repeat expansions, 1 with AOHs, and 1 with exon 7–8 deletion of SMN1 gene) validated the effectiveness of our pipeline. Conclusions This study has been piloted in test development, optimization, and validation of the WGS pipeline for genetic disorders. A set of best practices were recommended using our pipeline, along with a dataset of positive samples for benchmarking.
    Type of Medium: Online Resource
    ISSN: 1755-8794
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2023
    detail.hit.zdb_id: 2411865-5
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  • 7
    In: Genes, MDPI AG, Vol. 12, No. 3 ( 2021-03-06), p. 376-
    Abstract: Whole genome sequencing (WGS) is a powerful tool for postnatal genetic diagnosis, but relevant clinical studies in the field of prenatal diagnosis are limited. The present study aimed to prospectively evaluate the utility of WGS compared with chromosomal microarray (CMA) and whole exome sequencing (WES) in the prenatal diagnosis of fetal structural anomalies. We performed trio WGS (≈40-fold) in parallel with CMA in 111 fetuses with structural or growth anomalies, and sequentially performed WES when CMA was negative (CMA plus WES). In comparison, WGS not only detected all pathogenic genetic variants in 22 diagnosed cases identified by CMA plus WES, yielding a diagnostic rate of 19.8% (22/110), but also provided additional and clinically significant information, including a case of balanced translocations and a case of intrauterine infection, which might not be detectable by CMA or WES. WGS also required less DNA (100 ng) as input and could provide a rapid turnaround time (TAT, 18 ± 6 days) compared with that (31 ± 8 days) of the CMA plus WES. Our results showed that WGS provided more comprehensive and precise genetic information with a rapid TAT and less DNA required than CMA plus WES, which enables it as an alternative prenatal diagnosis test for fetal structural anomalies.
    Type of Medium: Online Resource
    ISSN: 2073-4425
    Language: English
    Publisher: MDPI AG
    Publication Date: 2021
    detail.hit.zdb_id: 2527218-4
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  • 8
    Online Resource
    Online Resource
    Elsevier BV ; 2021
    In:  Pacific-Basin Finance Journal Vol. 67 ( 2021-06), p. 101557-
    In: Pacific-Basin Finance Journal, Elsevier BV, Vol. 67 ( 2021-06), p. 101557-
    Type of Medium: Online Resource
    ISSN: 0927-538X
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2021
    detail.hit.zdb_id: 2013015-6
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  • 9
    In: BMC Infectious Diseases, Springer Science and Business Media LLC, Vol. 21, No. 1 ( 2021-12)
    Abstract: The purpose of this study was to develop and validate a simple-to-use nomogram for the prediction of syphilis infection among men who have sex with men (MSM) in Guangdong Province. Methods A serial cross-sectional data of 2184 MSM from 2017 to 2019 was used to develop and validate the nomogram risk assessment model. The eligible MSM were randomly assigned to the training and validation dataset. Factors included in the nomogram were determined by multivariate logistic regression analysis based on the training dataset. The receiver operating characteristic (ROC) curves was used to assess its predictive accuracy and discriminative ability. Results A total of 2184 MSM were recruited in this study. The prevalence of syphilis was 18.1% (396/2184). Multivariate logistic analysis found that age, the main venue used to find sexual partners, condom use in the past 6 months, commercial sex in the past 6 months, infection with sexually transmitted diseases (STD) in the past year were associated with syphilis infection using the training dataset. All these factors were included in the nomogram model that was well calibrated. The C-index was 0.80 (95% CI 0.76–0.84) in the training dataset, and 0.79 (95% CI 0.75–0.84) in the validation dataset. Conclusions A simple-to-use nomogram for predicting the risk of syphilis has been developed and validated among MSM in Guangdong Province. The proposed nomogram shows good assessment performance.
    Type of Medium: Online Resource
    ISSN: 1471-2334
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2021
    detail.hit.zdb_id: 2041550-3
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  • 10
    In: Molecular Genetics & Genomic Medicine, Wiley, Vol. 11, No. 7 ( 2023-07)
    Abstract: Usher syndrome is a condition characterized by partial or total hearing loss and progressive pigmentary retinopathy. Usher syndrome type 1F is caused by biallelic loss‐of‐function variants in Protocadherin 15 ( PCDH15 ), which encodes the PCDH15 protein that plays an important role in the morphogenesis and cohesion of stereocilium bundles and retinal photoreceptor cell maintenance and function. Methods We report a child with bilateral nonsyndromic sensorineural hearing loss who received an inconclusive diagnosis based on clinical gene panel testing, which identified a paternal heterozygous nonsense variant (NM_033056.4: c.733C 〉 T, p.R245*) in PCDH15 . This variant has been described as a founder variant in the Ashkenazi Jewish population. Results A novel deep‐intronic variant (NM_033056.4: c.705+3767_705+3768del) inherited from the patient's mother was identified by trio‐based whole‐genome sequencing (WGS). A minigene splicing assay revealed that c.705+3767_705+3768del results in aberrant retention of 50 or 68 bp of intron 7. Conclusion Our genetic test results provided precise genetic counseling and prenatal diagnosis for this family, and our findings highlight the power of WGS for detecting deep‐intronic variants in patients with undiagnosed rare diseases. Additionally, this case expands the variant spectrum of the PCDH15 gene and our results support the extremely low carrier frequency of c.733C 〉 T in the Chinese population.
    Type of Medium: Online Resource
    ISSN: 2324-9269 , 2324-9269
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2023
    detail.hit.zdb_id: 2734884-2
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