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  • BMJ  (9)
  • 1
    Online Resource
    Online Resource
    Artificial intelligence-enabled screening for diabetic retinopathy: a real-world, multicenter and prospective study
    BMJ ; 2020
    In:  BMJ Open Diabetes Research & Care Vol. 8, No. 1 ( 2020-10), p. e001596-
    Details
    In: BMJ Open Diabetes Research & Care, BMJ, Vol. 8, No. 1 ( 2020-10), p. e001596-
    Abstract: Early screening for diabetic retinopathy (DR) with an efficient and scalable method is highly needed to reduce blindness, due to the growing epidemic of diabetes. The aim of the study was to validate an artificial intelligence-enabled DR screening and to investigate the prevalence of DR in adult patients with diabetes in China. Research design and methods The study was prospectively conducted at 155 diabetes centers in China. A non-mydriatic, macula-centered fundus photograph per eye was collected and graded through a deep learning (DL)-based, five-stage DR classification. Images from a randomly selected one-third of participants were used for the DL algorithm validation. Results In total, 47 269 patients (mean (SD) age, 54.29 (11.60) years) were enrolled. 15 805 randomly selected participants were reviewed by a panel of specialists for DL algorithm validation. The DR grading algorithms had a 83.3% (95% CI: 81.9% to 84.6%) sensitivity and a 92.5% (95% CI: 92.1% to 92.9%) specificity to detect referable DR. The five-stage DR classification performance (concordance: 83.0%) is comparable to the interobserver variability of specialists (concordance: 84.3%). The estimated prevalence in patients with diabetes detected by DL algorithm for any DR, referable DR and vision-threatening DR were 28.8% (95% CI: 28.4% to 29.3%), 24.4% (95% CI: 24.0% to 24.8%) and 10.8% (95% CI: 10.5% to 11.1%), respectively. The prevalence was higher in female, elderly, longer diabetes duration and higher glycated hemoglobin groups. Conclusion This study performed, a nationwide, multicenter, DL-based DR screening and the results indicated the importance and feasibility of DR screening in clinical practice with this system deployed at diabetes centers. Trial registration number NCT04240652 .
    Type of Medium: Online Resource
    ISSN: 2052-4897
    URL: Article
    DOI: 10.1136/bmjdrc-2020-001596
    Language: English
    Publisher: BMJ
    Publication Date: 2020
    detail.hit.zdb_id: 2732918-5
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  • 2
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    Genomic evolution and diverse models of systemic metastases in colorectal cancer
    BMJ ; 2022
    In:  Gut Vol. 71, No. 2 ( 2022-02), p. 322-332
    Details
    In: Gut, BMJ, Vol. 71, No. 2 ( 2022-02), p. 322-332
    Abstract: The systemic spread of colorectal cancer (CRC) is dominated by the portal system and exhibits diverse patterns of metastasis without systematical genomic investigation. Here, we evaluated the genomic evolution of CRC with multiorgan metastases using multiregion sequencing. Design Whole-exome sequencing was performed on multiple regions (n=74) of matched primary tumour, adjacent non-cancerous mucosa, liver metastasis and lung metastasis from six patients with CRC. Phylogenetic reconstruction and evolutionary analyses were used to investigate the metastatic seeding pattern and clonal origin. Recurrent driver gene mutations were analysed across patients and validated in two independent cohorts. Metastatic assays were performed to examine the effect of the novel driver gene on the malignant behaviour of CRC cells. Results Based on the migration patterns and clonal origins, three models were revealed (sequential, branch-off and diaspora), which not only supported the anatomic assumption that CRC cells spread to lung after clonally expanding in the liver, but also illustrated the direct seeding of extrahepatic metastases from primary tumours independently. Unlike other cancer types, polyphyletic seeding occurs in CRC, which may result in late metastases with intermetastatic driver gene heterogeneity. In cases with rapid dissemination, we found recurrent trunk loss-of-function mutations in ZFP36L2 , which is enriched in metastatic CRC and associated with poor overall survival. CRISPR/Cas9-mediated knockout of ZFP36L2 enhances the metastatic potential of CRC cells. Conclusion Our results provide genomic evidence for metastatic evolution and indicate that biopsy/sequencing of metastases may be considered for patients with CRC with multiorgan or late postoperative metastasis.
    Type of Medium: Online Resource
    ISSN: 0017-5749 , 1468-3288
    URL: Article
    DOI: 10.1136/gutjnl-2020-323703
    RVK:
    XA 10000
    Language: English
    Publisher: BMJ
    Publication Date: 2022
    detail.hit.zdb_id: 1492637-4
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  • 3
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    GABRP regulates chemokine signalling, macrophage recruitment and tumour progression in pancreatic cancer through tuning KCNN4-mediated Ca 2+ signalling in a GABA-independent manner
    BMJ ; 2019
    In:  Gut Vol. 68, No. 11 ( 2019-11), p. 1994-2006
    Details
    In: Gut, BMJ, Vol. 68, No. 11 ( 2019-11), p. 1994-2006
    Abstract: Pancreatic ductal adenocarcinoma (PDAC) is a leading cause of cancer-related death worldwide. Neurotransmitter-initiated signalling pathway is profoundly implicated in tumour initiation and progression. Here, we investigated whether dysregulated neurotransmitter receptors play a role during pancreatic tumourigenesis. Methods The Cancer Genome Atlas and Gene Expression Omnibus datasets were used to identify differentially expressed neurotransmitter receptors. The expression pattern of gamma-aminobutyric acid type A receptor pi subunit (GABRP) in human and mouse PDAC tissues and cells was studied by immunohistochemistry and western blot analysis. The in vivo implications of GABRP in PDAC were tested by subcutaneous xenograft model and lung metastasis model. Bioinformatics analysis, transwell experiment and orthotopic xenograft model were used to identify the in vitro and in vivo effects of GABRP on macrophages in PDAC. ELISA, co-immunoprecipitation, proximity ligation assay, electrophysiology, promoter luciferase activity and quantitative real-time PCR analyses were used to identify molecular mechanism. Results GABRP expression was remarkably increased in PDAC tissues and associated with poor prognosis, contributed to tumour growth and metastasis. GABRP was correlated with macrophage infiltration in PDAC and pharmacological deletion of macrophages largely abrogated the oncogenic functions of GABRP in PDAC. Mechanistically, GABRP interacted with KCNN4 to induce Ca 2+ entry, which leads to activation of nuclear factor κB signalling and ultimately facilitates macrophage infiltration by inducing CXCL5 and CCL20 expression. Conclusions Overexpressed GABRP exhibits an immunomodulatory role in PDAC in a neurotransmitter-independent manner. Targeting GABRP or its interaction partner KCNN4 may be an effective therapeutic strategy for PDAC.
    Type of Medium: Online Resource
    ISSN: 0017-5749 , 1468-3288
    URL: Article
    DOI: 10.1136/gutjnl-2018-317479
    RVK:
    XA 10000
    Language: English
    Publisher: BMJ
    Publication Date: 2019
    detail.hit.zdb_id: 1492637-4
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  • 4
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    Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population
    BMJ ; 2022
    In:  Journal of Medical Genetics Vol. 59, No. 9 ( 2022-09), p. 840-849
    Details
    In: Journal of Medical Genetics, BMJ, Vol. 59, No. 9 ( 2022-09), p. 840-849
    Abstract: A large number of new causative and risk genes for amyotrophic lateral sclerosis (ALS) have been identified mostly in patients of European ancestry. In contrast, we know relatively little regarding the genetics of ALS in other ethnic populations. This study aims to provide a comprehensive analysis of the genetics of ALS in an unprecedented large cohort of Chinese mainland population and correlate with the clinical features of rare variants carriers. Methods A total of 1587 patients, including 64 familial ALS (FALS) and 1523 sporadic ALS (SALS), and 1866 in-house controls were analysed by whole-exome sequencing and/or testing for G4C2 repeats in C9orf72 . Forty-one ALS-associated genes were analysed. Findings 155 patients, including 26 (40.6%) FALS and 129 (8.5%) SALS, carrying rare pathogenic/likely pathogenic (P/LP) variants of ALS causative genes were identified. SOD1 was the most common mutated gene, followed by C9orf72 , FUS , NEK1 , TARDBP and TBK1 . By burden analysis, rare variants in SOD1 , FUS and TARDBP contributed to the collective risk for ALS (p 〈 2.5e-6) at the gene level, but at the allelic level TARDBP p.Gly294Val and FUS p.Arg521Cys and p.Arg521His were the most important single variants causing ALS. Clinically, P/LP variants in TARDBP and C9orf72 were associated with poor prognosis, in FUS linked with younger age of onset, and C9orf72 repeats tended to affect cognition. Conclusions Our data provide essential information for understanding the genetic and clinical features of ALS in China and for optimal design of genetic testing and evaluation of disease prognosis.
    Type of Medium: Online Resource
    ISSN: 0022-2593 , 1468-6244
    URL: Article
    DOI: 10.1136/jmedgenet-2021-107965
    RVK:
    WA 15000
    Language: English
    Publisher: BMJ
    Publication Date: 2022
    detail.hit.zdb_id: 2009590-9
    SSG: 12
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  • 5
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    Baseline and longitudinal change in blood pressure and mortality in a Chinese cohort
    BMJ ; 2018
    In:  Journal of Epidemiology and Community Health Vol. 72, No. 12 ( 2018-12), p. 1083-1090
    Details
    In: Journal of Epidemiology and Community Health, BMJ, Vol. 72, No. 12 ( 2018-12), p. 1083-1090
    Abstract: A J-curve association has been demonstrated for blood pressure (BP) and all-cause mortality, but data on longitudinal change of BP and mortality in Chinese population are limited. Methods We performed a retrospective cohort study to examine the association between BP (at baseline and longitudinal change) and risk of mortality in Yinzhou District, Ningbo, China, based on the Yinzhou Health Information System. At baseline, a total of 181 352 subjects aged over 18 years with at least one BP examination record were recruited through the Yinzhou Health Information System. The final analysis was restricted to 168 061 participants after exclusion of outliers of BP. Results A U-shaped association was observed for BP at baseline and risk of total and cardiovascular mortality. When compared with normotensive participants, patients with hypotension (HRs=1.51, 95% CI 1.21 to 1.88) and stage 3 hypertension (1.28, 95% CI 1.09 to 1.50) had an increased risk of all-cause mortality. Relative to stable BP of normotension, having a rise in BP from normotension to hypertension or from prehypertension to hypertension both conferred an increased risk of total and cardiovascular mortality (total: 1.39 (95% 1.10 to 1.75) and 1.40 (95% 1.15 to 1.69); cardiovascular: 2.22 (95% CI 1.35 to 3.65) and 1.89 (95% CI 1.20 to 2.96), respectively). Conclusions Our findings emphasise that hypotension and stage 3 hypertension were associated with an increased risk of all-cause mortality. Longitudinal change from normotensive or prehypertensive levels to 140/90 mm Hg or higher could increase the risk of total and cardiovascular mortality.
    Type of Medium: Online Resource
    ISSN: 0143-005X , 1470-2738
    URL: Article
    URL: Article
    DOI: 10.1136/jech-2018-211050
    DOI: 10.1136/jech-2018-211050.supp1
    Language: English
    Publisher: BMJ
    Publication Date: 2018
    detail.hit.zdb_id: 2015405-7
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  • 6
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    AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis
    BMJ ; 2016
    In:  Journal of Medical Genetics Vol. 53, No. 7 ( 2016-07), p. 488-493
    Details
    In: Journal of Medical Genetics, BMJ, Vol. 53, No. 7 ( 2016-07), p. 488-493
    Type of Medium: Online Resource
    ISSN: 0022-2593 , 1468-6244
    URL: Article
    DOI: 10.1136/jmedgenet-2015-103684
    RVK:
    WA 15000
    Language: English
    Publisher: BMJ
    Publication Date: 2016
    detail.hit.zdb_id: 2009590-9
    SSG: 12
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  • 7
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    SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia
    BMJ ; 2014
    In:  Journal of Medical Genetics Vol. 51, No. 8 ( 2014-08), p. 518-525
    Details
    In: Journal of Medical Genetics, BMJ, Vol. 51, No. 8 ( 2014-08), p. 518-525
    Type of Medium: Online Resource
    ISSN: 0022-2593 , 1468-6244
    URL: Article
    DOI: 10.1136/jmedgenet-2014-102351
    RVK:
    WA 15000
    Language: English
    Publisher: BMJ
    Publication Date: 2014
    detail.hit.zdb_id: 2009590-9
    SSG: 12
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  • 8
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    Efficacy and safety of trabeculectomy versus peripheral iridectomy plus goniotomy in advanced primary angle-closure glaucoma: study protocol for a multicentre, non-inferiority, randomised controlled trial (the TVG study)
    BMJ ; 2022
    In:  BMJ Open Vol. 12, No. 7 ( 2022-07), p. e062441-
    Details
    In: BMJ Open, BMJ, Vol. 12, No. 7 ( 2022-07), p. e062441-
    Abstract: Primary angle-closure glaucoma (PACG) is a major subtype of glaucoma that accounts for most bilateral glaucoma-related blindness globally. Filtering surgery is a conventional strategy for PACG, yet it has a long learning curve and undesirable disastrous complications. Minimally invasive glaucoma surgery (MIGS) plays an increasing role in the management of glaucoma due to its safer and faster recovery profile; cataract surgery-based MIGS is the most commonly performed such procedure in PACG. However, for patients with a transparent lens or no indications for cataract extraction, incorporation of MIGS into PACG treatment has not yet been reported. Therefore, this multicentre, non-inferiority, randomised controlled clinical trial aims to compare the efficacy and safety of trabeculectomy versus peripheral iridectomy plus an ab interno goniotomy in advanced PACG with no or mild cataracts. Methods and analysis This non-inferiority, multicentre, randomised controlled trial will be conducted at seven ophthalmic departments and institutes across China. Eighty-eight patients with no or mild cataracts and advanced PACG will be enrolled and randomised to undergo trabeculectomy or peripheral iridectomy plus ab interno goniotomy. Enrolled patients will undergo comprehensive ophthalmic examinations before and after surgery. The primary outcome is intraocular pressure (IOP) at 12 months postoperatively. The secondary outcomes are cumulative success rate of surgery, surgery-related complications and number of IOP-lowering medications. Participants will be followed up for 36 months postoperatively. Ethics and dissemination The study protocol was approved by the ethical committees of the Zhongshan Ophthalmic Center, Sun Yat-sen University, China (ID: 2021KYPJ191) and of all subcentres. All participants will be required to provide written informed consent. The results will be published in peer-reviewed journals and disseminated in international academic meetings. Trial registration number NCT05163951 .
    Type of Medium: Online Resource
    ISSN: 2044-6055 , 2044-6055
    URL: Article
    URL: Article
    DOI: 10.1136/bmjopen-2022-062441
    DOI: 10.1136/bmjopen-2022-062441.supp1
    Language: English
    Publisher: BMJ
    Publication Date: 2022
    detail.hit.zdb_id: 2599832-8
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  • 9
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    The sensitivity and specificity of TOF-MRA compared with DSA in the follow-up of treated intracranial aneurysms
    BMJ ; 2021
    In:  Journal of NeuroInterventional Surgery Vol. 13, No. 12 ( 2021-12), p. 1172-1179
    Details
    In: Journal of NeuroInterventional Surgery, BMJ, Vol. 13, No. 12 ( 2021-12), p. 1172-1179
    Abstract: Time-of-flight magnetic resonance angiography (TOF-MRA) is widely used in detecting intracranial aneurysms (IA), but it is limited and controversial for use during follow-up to assess the outcome of interventional coiling or clipping surgery. Methods To evaluate the specificity and sensitivity of using TOF-MRA as an imaging follow-up for IA with different treatments. A total of 280 patients with 326 treated IA underwent simultaneous TOF-MRA and digital subtraction angiography (DSA) as follow-up imaging on the same day. All images were independently reviewed by two neurosurgeons and two radiologists. The consensus evaluation of intra-arterial DSA as a reference test was used to evaluate the result of aneurysm occlusions. The aneurysmal embolization status was assessed with two ratings involving complete or incomplete occlusions. We calculated the sensitivity, specificity, negative predictive value, and positive predictive value of three-dimensional-TOF-MRA to investigate the diagnostic performance. Results Overall sensitivity and specificity of TOF-MRA for diagnosing the remnant were 83.3% and 95.2%, respectively. The sensitivity and specificity of interventional therapy was 90.0% and 94.2%, respectively, while the clipping group showed sensitivity and specificity of 50.0% and 100%, respectively. For additional groups, involving coil only, stent-assisted, and flow diverter, the analysis of interventional therapy showed sensitivities and specificities of 100.0% and 90.1%, 66.7% and 95.1%, and 91.7% and 100%, respectively. Conclusions TOF-MRA can be used as a first-line noninvasive imaging modality during follow-up, especially for the patients treated with a pipeline embolization device and coils only. But it may not be enough for clipped aneurysms.
    Type of Medium: Online Resource
    ISSN: 1759-8478 , 1759-8486
    URL: Article
    DOI: 10.1136/neurintsurg-2020-016788
    Language: English
    Publisher: BMJ
    Publication Date: 2021
    detail.hit.zdb_id: 2506028-4
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