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1.
J Endocrinol Invest ; 46(10): 2055-2066, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37005981

RESUMO

PURPOSE: Patients with Graves' orbitopathy (GO) have characteristic facial expressions that are different from those of healthy individuals due to the combination of somatic and psychiatric symptoms. However, the facial expressions of GO patients have not yet been described and analyzed systematically. Thus, the present study aimed to present the facial expressions of GO patients and explore their applications in clinical practice. METHODS: Facial image and clinical data of 943 GO patients were included, and 126 patients answered quality of life (GO-QOL) questionnaires. Each patient was labeled for one facial expression. Then, a portrait was drawn for every facial expression. Logistic and linear regression was performed to analyze the correlation between facial expression and clinical indicators, including QOL, disease activity and severity. The VGG-19 network model was utilized to discriminate facial expressions automatically. RESULTS: Two groups, i.e., the non-negative emotion (neutral, happy) and the negative emotion (disgust, angry, fear, sadness, surprise), and seven expressions of GO patients were systematically analyzed. Facial expression was statistically associated with GO activity (P = 0.002), severity (P < 0.001), QOL visual functioning subscale scores (P = 0.001), and QOL appearance subscale score (P = 0.012). The deep learning model achieved satisfactory results (accuracy 0.851, sensitivity 0.899, precision 0.899, specificity 0.720, F1 score 0.899, and AUC 0.847). CONCLUSIONS: As a novel clinical sign, facial expression holds the potential to be incorporated into GO assessment system in the future. The discrimination model may assist clinicians in real-life patient care.


Assuntos
Oftalmopatia de Graves , Humanos , Oftalmopatia de Graves/diagnóstico , Oftalmopatia de Graves/psicologia , Qualidade de Vida/psicologia , Expressão Facial , Visão Ocular , Inquéritos e Questionários
2.
Zhonghua Yi Xue Za Zhi ; 103(21): 1649-1652, 2023 Jun 06.
Artigo em Zh | MEDLINE | ID: mdl-37248066

RESUMO

The clinical data of 73 symptomatic patients with chronic internal carotid artery occlusion (CICAO) who underwent endovascular therapy in the Second Affiliated Hospital of Soochow University and Suzhou Ninth People's Hospital from January 2011 to May 2019 were retrospectively analyzed, and the related factors of successful endovascular therapy were determined. The patients were divided into recanalization group (49 cases) and non-recanalization group (24 cases). The related factors of successful endovascular recanalization in patients with symptomatic CICAO were investigated by both univariate and multivariate logistic regression analyses. The results showed that distal ICA reconstitution at the clinoid segment (OR=8.946, 95%CI: 1.782-44.910) and tapered stump (OR=4.488, 95%CI: 1.147-17.566) were related factors of successful endovascular therapy in patients with CICAO (both P<0.05). However, calcification at the beginning of occluded ICA (OR=0.161, 95%CI: 0.027-0.965) was an adverse factor for successful endovascular therapy in patients with CICAO (P<0.05). This study indicates that the related factors of successful ICA endovascular therapy in patients with symptomatic CICAO mainly include tapered stump and distal ICA reconstitution at the clinoid segment, while calcification at the beginning of occluded ICA was an adverse factor.


Assuntos
Arteriopatias Oclusivas , Doenças das Artérias Carótidas , Estenose das Carótidas , Procedimentos Endovasculares , Trombose , Humanos , Artéria Carótida Interna , Estudos Retrospectivos , Resultado do Tratamento , Doenças das Artérias Carótidas/terapia , Procedimentos Endovasculares/métodos , Estenose das Carótidas/terapia
3.
Zhonghua Xin Xue Guan Bing Za Zhi ; 51(5): 490-496, 2023 May 24.
Artigo em Zh | MEDLINE | ID: mdl-37198120

RESUMO

Objective: To explore the safety and efficacy of excimer laser coronary angioplasty (ELCA) for the treatment of degenerated great saphenous vein graft (SVG). Methods: This is a single-center, prospective, single-arm study. Patients, who were admitted to the Geriatric Cardiovascular Center of Beijing Anzhen Hospital from January 2022 to June 2022, were consecutively enrolled. Inclusion criteria were recurrent chest pain after coronary artery bypass surgery (CABG), and coronary angiography confirmed that the SVG stenosis was more than 70% but not completely occluded, and interventional treatment for SVG lesions was planned. Before balloon dilation and stent placement, ELCA was used to pretreat the lesions. Optical coherence tomography (OCT) examination was performed and postoperative index of microcirculation resistance (IMR) were assessed after stent implantation. The technique success rate and operation success rate were calculated. The technique success was defined as the successful passage of the ELCA system through the lesion. Operation success was defined as the successful placement of a stent at the lesion. The primary evaluation index of the study was IMR immediately after PCI. Secondary evaluation indexes included thrombolysis in myocardial infarction (TIMI) flow grade, corrected TIMI frame count (cTFC), minimal stent area and stent expansion measured by OCT after PCI, and procedural complications (Ⅳa myocardial infarction, no reflow, perforation). Results: A total of 19 patients aged (66.0±5.6) years were enrolled, including 18 males (94.7%). The age of SVG was 8 (6, 11) years. The length of the lesions was greater than 20 mm, and they were all SVG body lesions. The median stenosis degree was 95% (80%, 99%), and the length of the implanted stent was (41.7±16.3)mm. The operation time was 119 (101, 166) minutes, and the cumulative dose was 2 089 (1 378, 3 011)mGy. The diameter of the laser catheter was 1.4 mm, the maximum energy was 60 mJ, and the maximum frequency was 40 Hz. The technique success and the operation success rate were both 100% (19/19). The IMR after stent implantation was 29.22±5.95. The TIMI flow grade of patients after ELCA and stent implantation was significantly improved (all P>0.05), and the TIMI flow grade of all patients after stent implantation was Grade Ⅲ. The cTFC decreased significantly after ELCA (33.2±7.8) and after stent placement (22.8±7.1) than preoperative level (49.7±13.0) (both P<0.001). The minimum stent area was (5.53±1.36)mm2, and the stent expansion rate was (90.0±4.3)%. Perforation, no reflow, type Ⅳa myocardial infarction and other complications were not observed. However, postoperative high-sensitivity troponin level was significantly increased ((67.937±33.839)ng/L vs. (5.316±3.105)ng/L, P<0.001). Conclusion: ELCA is safe and effective in the treatment of SVG lesions and could improve microcirculation and ensure full expansion of stent.


Assuntos
Aterectomia Coronária , Infarto do Miocárdio , Intervenção Coronária Percutânea , Masculino , Humanos , Idoso , Estudos Prospectivos , Lasers de Excimer/uso terapêutico , Veia Safena/transplante , Constrição Patológica , Aterectomia Coronária/métodos , Angiografia Coronária , Stents , Resultado do Tratamento
4.
Zhonghua Yi Xue Za Zhi ; 102(37): 2950-2955, 2022 Oct 11.
Artigo em Zh | MEDLINE | ID: mdl-36207871

RESUMO

Objective: To explore the related factors of internal border-zone (IBZ) infarcts in patients with symptomatic chronic internal carotid artery occlusion (CICAO). Methods: From January 2011 to May 2019, the symptomatic CICAO patients in the Second Affiliated Hospital of Soochow University and the Ninth People's Hospital of Suzhou were retrospectively analyzed. The patients were divided into IBZ group and non-IBZ group. The demographic data, laboratory examination and imaging data of the two groups were collected. Binary logistic regression analysis was used to identify the related factors of IBZ infarcts in patients with symptomatic CICAO. Results: A total of 185 patients (147 males and 38 females) were finally enrolled, with a mean age of (65±11) years old. There were 64 and 121 cases in IBZ group and non-IBZ group, respectively. The ratio of patients with ophthalmic artery (OA) reflux in IBZ group was 64.1% (41/64), which was significantly higher than that in non IBZ group [47.8% (55/121), P=0.037], while the ratio of patients with collateral compensation (ASTIN/SIR 3-4) in non-IBZ group was 66.1% (80/121), which was significantly higher than that in IBZ group [29.7% (19/64), P<0.001]. Multivariate logistic regression analysis showed that history of cerebral infarction (OR=2.233, 95%CI: 1.023-4.874), low density lipoprotein (LDL) (OR=1.516, 95%CI: 1.006-2.285) and OA reflux (OR=5.060, 95%CI: 1.160-22.081) were independent risk factors for IBZ infarcts in patients with symptomatic CICAO (all P<0.05); while prothrombin international normalized ratio (INR) (OR=0.010, 95%CI: 0.000-0.970) and collateral compensation (ASTIN/SIR 3-4) (OR=0.172, 95%CI: 0.079-0.373) were protective factors (all P<0.05). Conclusion: OA reflux, LDL, and history of cerebral infarction are independent risk factors for IBZ infarcts in patients with symptomatic CICAO, while INR and collateral compensation scores (ASTIN/SIR 3-4) are the protective factors.


Assuntos
Arteriopatias Oclusivas , Doenças das Artérias Carótidas , Idoso , Artéria Carótida Interna , Infarto Cerebral , Feminino , Humanos , Lipoproteínas LDL , Masculino , Pessoa de Meia-Idade , Protrombina , Estudos Retrospectivos
5.
Neoplasma ; 67(6): 1223-1232, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32701354

RESUMO

Downregulation of cell division cycle-associated 3 (CDCA3) markedly inhibited cell growth and induced apoptosis in tumors. However, the effect of CDCA3 in pancreatic cancer (PAC) was rarely investigated. Therefore, this study attempted to clarify the role of CDCA3 in PAC. The mRNA and protein expression of CDCA3 were examined in PAC cell lines and tumor tissues by using real-time quantitative PCR (RT-qPCR), western blotting (WB), and immunohistochemistry (IHC). The effects of CDCA3 downregulation on cell proliferation, apoptosis, and colony information were investigated through MTT assay, Annexin V-APC single staining cell apoptosis detection, and colony formation test. The microarray and ingenuity pathway analysis were employed to explore the potential regulatory relation. The tumor xenograft model was established for determining the effect of CDCA3 downregulation on the growth of PAC in vivo. The results showed that the expression of CDCA3 in tumor tissues was higher than that of normal tissues (p<0.05). In addition, the mRNA expression of CDCA3 was markedly increased in PANC-1 cells and SW 1990 cells when compared with human pancreatic duct epithelial (HPDE) cells (p<0.05). MTT assay showed that the cell proliferation of PANC-1 cells and SW 1990 cells was significantly inhibited after the lentivirus transfection of CDCA3 knockdown (p<0.05). Annexin V-APC apoptosis assays suggested that the apoptotic cell number was markedly increased in the shCDCA3 group compared to that in the shCtrl group in SW 1990 cells and PANC-1 cells (p<0.05). Meanwhile, the activity of caspase-3/7 was obviously elevated in the shCDCA3 group compared to the shCtrl group (p<0.05). The colony formation was notably inhibited in the shCDCA3 group relative to the shCtrl group in SW 1990 cells (p<0.05). Moreover, the tumor growth was evidently suppressed in the shCDCA3 group compared with the shCtrl group in vivo (p<0.05). These findings revealed that CDCA3 plays a crucial role in the progress of PCA by regulating cell apoptosis and proliferation, which may serve as a potential target for PAC treatment.


Assuntos
Neoplasias Pancreáticas , Animais , Apoptose , Proteínas de Ciclo Celular/genética , Linhagem Celular Tumoral , Proliferação de Células , Regulação para Baixo , Regulação Neoplásica da Expressão Gênica , Humanos , Transplante de Neoplasias , Neoplasias Pancreáticas/genética , Neoplasias Pancreáticas/patologia
6.
Rhinology ; 57(4): 261-267, 2019 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-30801072

RESUMO

BACKGROUND: The factors contributing to the eosinophilic inflammation in chronic rhinosinusitis with nasal polyps (CRSwNP) remain elusive. This study was designed to investigate the inflammatory patterns and tissue remodeling of CRSwNP in patients from central China at two time points over 14 years apart and the influence of age. METHODS: One hundred and eight CRSwNP patients enrolled in 2000 and 2001 (group A), and 134 CRSwNP patients enrolled in 2014 and 2015 (group B) were retrospectively studied. Hematoxylin-eosin stained tissue sections were used to study characteristics of inflammation and tissue remodeling. Immunohistochemistry was used to further evaluate the cells positive for eosinophil cationic protein (ECP), IL-5, IgE, tryptase or myeloperoxidase (MPO). Time- and age-related difference was analyzed. RESULTS: The number of eosinophils and proportion of eosinophilic CRSwNP were increased, whereas the numbers of total inflammatory cells and lymphocytes were decreased in group B as compared with group A. Group B had severer epithelial squamous metaplasia and basement membrane thickening, and a lower number of mucosal glands than group A. Higher numbers of ECP plus, IL-5 plus and IgE plus cells were detected in group B than those in group A. The elderly (60 yrs or older) and non-elderly (less than 60 yrs) had a comparable number of eosinophils and ratio of eosinophilic CRSwNP. CONCLUSION: Eosinophilic inflammation has been significantly augmented over time, which is associated with increased Th2 response and IgE production, and accompanied by exaggerated epithelium remodeling in CRSwNP patients from central China. Age has no significant influence on eosinophilic inflammation.


Assuntos
Pólipos Nasais , Rinite , Adulto , Idoso , China , Doença Crônica , Citocinas , Eosinófilos , Humanos , Pólipos Nasais/complicações , Pólipos Nasais/patologia , Estudos Retrospectivos , Rinite/complicações
7.
Zhonghua Yi Xue Za Zhi ; 98(17): 1342-1346, 2018 May 08.
Artigo em Zh | MEDLINE | ID: mdl-29764036

RESUMO

Objective: To evaluate the location, extent of viable myocardial of chronic total coronary occlusions(CTO)lesions by (18)F-FDG PET myocardial metabolism imaging and then compare with coronary collateral circulation(CCC) to evaluate the prognostic evaluation in patients with CTO lesions. Methods: A total of Sixty consecutive patients with CTO lesions referred for viability assessment from April 2016 to April 2017 in Department of Cardiology, Beijing Anzhen Hospital were included in the study. These patients underwent (99m)Tc-sestamibi ECG-gated SPECT rest myocardial perfusion imaging and ECG-gated (18)F-FDG PET/CT myocardial metabolic imaging, as well as coronary arteriography were recruited in this study. LV functional parameters(EDV, ESV, and LVEF) were analyzed by QGS software. The extent of CCC to the area of CTO related artery was graded as poorly, or well developed collaterals, assessed by Rentrop classification. All patients were followed up for a median of 17 months(range 12-20 months) and evaluated the changes of NYHA. Then the prognostic value of (18)F-FDG PET myocardial metabolism imaging and CCC in patients with CTO lesions were analyzed and evaluated. Results: As the standard evaluation of NYHA in patients with CTO lesions after 12-20 months, fifty-three patients were assigned in this study. According to the changes of NYHA, the patients were divided into no progress group and progress group. There were no statistically difference in age, gender, high risk of CTO lesion and drugs in two groups, but there were significant statistical differences in myocardial parameters. LVEF was significantly increased in patients with CTO lesion in no progress group(42.3%±17.2% vs 22.2%±10.4%, P<0.01). The EDV and ESV in no progress group were significantly smaller than patients in progress group.The sensitivity(95.2% vs 75.7%) and specificity(62.8% vs 38.1%) of (18)F-FDG PET myocardial metabolism imaging was much better than CCC in the evaluation of prognosis in patients with CTO lesion. Conclusion: (18)F-FDG PET myocardial metabolism imaging has important role in the prognosis of patient with CTO lesions when compared with CCC.


Assuntos
Circulação Colateral , Circulação Coronária , Fluordesoxiglucose F18 , Coração , Humanos , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Prognóstico , Compostos Radiofarmacêuticos , Tomografia Computadorizada de Emissão de Fóton Único
8.
Zhonghua Yan Ke Za Zhi ; 54(8): 599-604, 2018 Aug 11.
Artigo em Zh | MEDLINE | ID: mdl-30107653

RESUMO

Objective: To investigate the attainment of therapeutic targets for glycosylated hemoglobin and blood pressure, ophthalmologic examination, diagnosis and treatment of diabetic retinopathy (DR) with type 2 diabetes mellitus. Methods: A cross-sectional study in type 2 diabetic patients was conducted in a community of Fushun between July 2012 and May 2013. Questionnaire, detailed ophthalmic examination and laboratory tests were completed to collect the information about sociodemographic and healthcare characteristics. Results: A total of 2 033 eligible patients with complete information were screened from 2 224 type 2 diabetic patients. Of them, the control rates of glycosylated hemoglobin(<7.0%), blood pressure[<140/80 mmHg (1 mmHg=0.133 kPa)] and serum lipid were 39.7%, 31.0% and 2.6%, respectively. Only 22.3% of the participants had ophthalmologic examination after the diagnosis of diabetes mellitus, and 72.2% of the participants in the study reported never receiving any recommendation for eye examinations from their physicians. The prevalence of DR was 44.3% in the study population, 27.1% receiving ophthalmologic examination ever. Among them, 213 patients had vision-threatening DR and required laser treatment or vitreous surgery, but 82.2% had not been treated. Conclusions: The investigation of the type 2 diabetic patients in a community of Fushun indicated that more than 60% of patients did not attain therapeutic targets for glycosylated hemoglobin, and 70% for blood pressure; 78% had not received ophthalmologic examination after the diagnosis of diabetes mellitus; 82% of vision-threatening DR patients had not been treated. Educational efforts should be aimed at improving knowledge of and compliance with these guidelines among both internists and eye care providers. (Chin J Ophthalmol, 2018, 54: 599-604).


Assuntos
Diabetes Mellitus Tipo 2 , Retinopatia Diabética , Técnicas de Diagnóstico Oftalmológico , Estudos Transversais , Diabetes Mellitus Tipo 2/complicações , Retinopatia Diabética/diagnóstico , Hemoglobinas Glicadas , Humanos , Prevalência , Fatores de Risco
9.
Clin Exp Obstet Gynecol ; 44(1): 129-132, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29714881

RESUMO

OBJECTIVE: To investigate the effects of the leflunomide (LEF) on the size of the transplanted endometriosis (EMS) lesions and trans- forming growth factor (TGF) -ß1gray level in SD rats. MATERIALS AND METHODS: EMS was surgically induced in rats by autologous trans- plantation and the focal volume was also measured. The rats were divided into three groups: group A: normal SD rats, group B: rats irrigated by one ml-kg⁻¹d⁻¹ saline for three weeks, and group C: rats irrigated by 35 mg-kg⁻¹d⁻¹ LEF for three weeks. The rats were then sacrificed and measured their focal volume and TGF-ß1 gray value with immunohistochemical method. RESULTS: The sizes of the focal volume in group C were significantly reduced compared to the rats before feeding, and the volume in group C was smaller than group B after feeding and so was the TGF-ß1. CONCLUSION: LEF could be a new therapeutic drug for EMS.


Assuntos
Endometriose/tratamento farmacológico , Endometriose/patologia , Imunossupressores/farmacologia , Isoxazóis/farmacologia , Animais , Endometriose/metabolismo , Feminino , Leflunomida , Ratos Sprague-Dawley , Fator de Crescimento Transformador beta1/metabolismo
10.
Osteoarthritis Cartilage ; 24(5): 827-34, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26708258

RESUMO

OBJECTIVE: To identify novel biomarker(s) for knee osteoarthritis (OA) using a metabolomics approach. METHOD: We utilized a two-stage case-control study design. Plasma samples were collected from knee OA patients and healthy controls after 8-h fasting and metabolically profiled using a targeted metabolomics assay kit. Linear regression was used to identify novel metabolic markers for OA. Receiver operating characteristic (ROC) analysis was used to examine diagnostic values. Gene expression analysis was performed on human cartilage to explore the potential mechanism for the novel OA marker(s). RESULTS: Sixty-four knee OA patients and 45 controls were included in the discovery stage and 72 knee OA patients and 76 age and sex matched controls were included in the validation stage. We identified and confirmed six metabolites that were significantly associated with knee OA, of which arginine was the most significant metabolite (P < 3.5 × 10(-13)) with knee OA patients having on average 69 µM lower than that in controls. ROC analysis showed that arginine had the greatest diagnostic value with area under the curve (AUC) of 0.984. The optimal cutoff of arginine concentration was 57 µM with 98.3% sensitivity and 89% specificity. The depletion of arginine in OA patients was most likely due to the over activity of arginine to ornithine pathway, leading to imbalance between cartilage repair and degradation. CONCLUSION: Arginine is significantly depleted in refractory knee OA patients. Further studies within a longitudinal setting are required to examine whether arginine can predict early OA changes.


Assuntos
Arginina/sangue , Osteoartrite do Joelho/sangue , Idoso , Arginina/deficiência , Artroplastia do Joelho , Biomarcadores/sangue , Índice de Massa Corporal , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Metabolômica/métodos , Pessoa de Meia-Idade , Osteoartrite do Joelho/diagnóstico , Osteoartrite do Joelho/cirurgia , Curva ROC , Sensibilidade e Especificidade
11.
Nanotechnology ; 27(4): 045708, 2016 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-26656305

RESUMO

One-dimensional core-shell nanostructures consisting of a ferromagnetic cobalt core and a multiferroic BiFeO3 (BFO) shell were fabricated by an artificial two-step methodology. The coupling between the ferromagnetic core and multiferroic shell manifests a significant exchange bias effect which gives a clear demonstration of the anti-ferromagnetic functionality of the BFO shell material. Exchange biases of 30 Oe and 60 Oe are observed at 300 K and at 5 K, respectively. Superparamagnetic contributions at lower temperatures play an important role in contributing to overall magnetic behavior. Dominant shape anisotropy causes parallel alignment of the easy magnetization axis along the axis of core-shell nanowires. A coherent mode of the magnetization reversal mechanism is observed by the angular dependence of coercivity (H c). This versatile two-step methodology can be employed to fabricate and investigate many other hybrid nanostructures leading to a vast scope of investigation for researchers.

12.
Luminescence ; 30(7): 1020-5, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25712787

RESUMO

A reactive Tb(III) complex with p-aminobenzoic acid (p-ABA) and methacrylic acid (MAA) as ligands was synthesized. A novel copolymer was synthesized by free radical copolymerization of styrene and the reactive Tb(III) complex in dimethyl sulfoxide (DMSO) with 2,2'-azobis(2-methylpropionitrile) (AIBN) as the initiator. IR and UV/Vis spectra indicate that the copolymer exhibited absorption from polystyrene and the complex. Thermogravimetric analysis indicates that the copolymer remained stable up to 357°C and the thermal stability was significantly improved in comparison with polymer matrix and the Tb(III) complex. The luminescent intensity of the synthetic terbium macromolecular complexes increased with increasing complex monomer content. Moreover, concentration quenching was not observed.


Assuntos
Ácido 4-Aminobenzoico/química , Luminescência , Metacrilatos/química , Compostos Organometálicos/química , Polímeros/química , Estireno/química , Térbio/química , Estrutura Molecular , Compostos Organometálicos/síntese química , Polímeros/síntese química
13.
Clin Genet ; 84(6): 522-30, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23278430

RESUMO

Hereditary non-polyposis colorectal cancer (HNPCC) may be the result of Lynch syndrome (LS) caused by mutations in mismatch repair (MMR) genes, a syndrome of unknown etiology called familial colorectal cancer type-X (FCCTX), or familial serrated neoplasia associated with the colorectal cancer (CRC) somatic BRAF mutation. To determine the cause of HNPCC in the founder population of the island of Newfoundland, we studied 37 families with LS and 29 families without LS who fulfilled the Amsterdam I criteria. In non-LS, four index CRCs were BRAF mutation positive, one of which was microsatellite instable. Geographic clustering of LS families caused by three different founder mutations in MSH2 was observed. Nine unique MMR mutations in four MMR genes were identified in single families distributed in different geographic isolates. The geographic distribution of non-LS was similar to LS. The coefficient of relatedness using genotype data was significantly higher for non-LS than for all CRC. Extensive genealogic investigation failed to connect non-LS families and in some clusters pathologic CRC heterogeneity was observed. We conclude that non-LS HNPCC may be a heterogeneous disorder with different pathogenic pathways, and that the geographic distribution is consistent with multiple different mutations in unknown CRC susceptibility gene(s).


Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/epidemiologia , Idoso , Canadá , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/genética , Neoplasias Colorretais/patologia , Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Colorretais Hereditárias sem Polipose/patologia , Família , Feminino , Efeito Fundador , Heterogeneidade Genética , Geografia Médica , Humanos , Masculino , Pessoa de Meia-Idade , Proteína 2 Homóloga a MutS/genética , Mutação , Vigilância da População , Proteínas Proto-Oncogênicas B-raf/genética , Sistema de Registros
14.
Ann Rheum Dis ; 70(5): 864-7, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21177295

RESUMO

OBJECTIVES: The genetic aetiology of osteoarthritis has not yet been elucidated. To enable a well-powered genome-wide association study (GWAS) for osteoarthritis, the authors have formed the arcOGEN Consortium, a UK-wide collaborative effort aiming to scan genome-wide over 7500 osteoarthritis cases in a two-stage genome-wide association scan. Here the authors report the findings of the stage 1 interim analysis. METHODS: The authors have performed a genome-wide association scan for knee and hip osteoarthritis in 3177 cases and 4894 population-based controls from the UK. Replication of promising signals was carried out in silico in five further scans (44,449 individuals), and de novo in 14 534 independent samples, all of European descent. RESULTS: None of the association signals the authors identified reach genome-wide levels of statistical significance, therefore stressing the need for corroboration in sample sets of a larger size. Application of analytical approaches to examine the allelic architecture of disease to the stage 1 genome-wide association scan data suggests that osteoarthritis is a highly polygenic disease with multiple risk variants conferring small effects. CONCLUSIONS: Identifying loci conferring susceptibility to osteoarthritis will require large-scale sample sizes and well-defined phenotypes to minimise heterogeneity.


Assuntos
Osteoartrite do Quadril/genética , Osteoartrite do Joelho/genética , Estudos de Casos e Controles , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Humanos , Herança Multifatorial , Polimorfismo de Nucleotídeo Único
15.
Osteoarthritis Cartilage ; 19(3): 265-71, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21146623

RESUMO

OBJECTIVE: To clarify the role of common genetic variation in the Interleukin-1ß (IL1B) and Interleukin-1R antagonist (IL1RN) genes on risk of knee and hip osteoarthritis (OA) and severity of knee OA by means of large-scale meta-analyses. METHODS: We searched PubMed for articles assessing the role of IL1B and IL1RN polymorphisms/haplotypes on the risk of hip and/or knee OA. Novel data were included from eight unpublished studies. Meta-analyses were performed using fixed- and random-effects models with a total of 3595 hip OA and 5013 knee OA cases, and 6559 and 9132 controls respectively. The role of ILRN haplotypes on radiographic severity of knee OA was tested in 1918 cases with Kellgren-Lawrence (K/L) 1 or 2 compared to 199 cases with K/L 3 or 4. RESULTS: The meta-analysis of six published studies retrieved from the literature search and eight unpublished studies showed no evidence of association between common genetic variation in the IL1B or IL1RN genes and risk of hip OA or knee OA (P>0.05 for rs16944, rs1143634, rs419598 and haplotype C-G-C (rs1143634, rs16944 and rs419598) previously implicated in risk of hip OA). The C-T-A haplotype formed by rs419598, rs315952 and rs9005, previously implicated in radiographic severity of knee OA, was associated with reduced severity of knee OA (odds ratio (OR)=0.71 95%CI 0.56-0.91; P=0.006, I(2)=74%), and achieved borderline statistical significance in a random-effects model (OR=0.61 95%CI 0.35-1.06 P=0.08). CONCLUSION: Common genetic variation in the Interleukin-1 region is not associated with prevalence of hip or knee OA but our data suggest that IL1RN might have a role in severity of knee OA.


Assuntos
Proteína Antagonista do Receptor de Interleucina 1/antagonistas & inibidores , Proteína Antagonista do Receptor de Interleucina 1/genética , Interleucina-1beta/genética , Osteoartrite do Quadril/genética , Osteoartrite do Joelho/genética , Polimorfismo Genético , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Marcadores Genéticos , Predisposição Genética para Doença , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Osteoartrite do Quadril/diagnóstico por imagem , Osteoartrite do Joelho/diagnóstico por imagem , Radiografia , Índice de Gravidade de Doença
16.
Zhonghua Wei Chang Wai Ke Za Zhi ; 24(9): 775-782, 2021 Sep 25.
Artigo em Zh | MEDLINE | ID: mdl-34530558

RESUMO

Objective: To analyze the current adherence to imatinib in patients with gastrointestinal stromal tumors (GIST) in China and its influencing factors. Methods: A cross-sectional survey was conducted. Study period: from October 1, 2020 to November 31, 2020. Study subjects: GIST patients taking imatinib who were diagnosed and treated in public tertiary level A general hospitals or oncology hospitals; those who had not been pathologically diagnosed, those who never received imatinib, or those who had taken imatinib in the past but stopped afterwards were excluded. The Questionnaire Star online surgery platform was used to design a questionnaire about the adherence to adjuvant imatinib therapy of Chinese GIST patients. The link of questionnaire was sent through WeChat. The questionnaire contained basic information of patients, medication status and Morisky Medication Adherence Scale. Results: A total of 2162 questionnaires from 31 provinces, autonomous regions, and municipalities were collected, of which 2005 were valid questionnaires, with an effective rate of 92.7%. The survey subjects included 1104 males and 901 females, with a median age of 56 (22-91) years old. Working status: 609 cases (30.4%) in the work unit, 729 cases (36.4%) of retirement, 667 cases of flexible employment or unemployment (33.3%). Education level: 477 cases (23.8%) with bachelor degree or above, 658 cases (32.8%) of high school, 782 cases (39.0%) of elementary or junior high school, 88 cases (4.4%) without education. Marital status: 1789 cases (89.2%) were married, 179 cases (8.9%) divorced or widowed, 37 cases (1.8%) unmarried. Two hundred and ninety-four patients (14.7%) had metastasis when they were first diagnosed, including 203 liver metastases, 52 peritoneal metastases, and 39 other metastases. One thousand eight hundred and sixty-nine patients underwent surgical treatment, of whom 1642 (81.9%) achieved complete resection. The median time of taking imatinib was 25 (1-200) months. Common adverse reactions of imatinib included 1701 cases (84.8%) of periorbital edema, 1031 cases (51.4%) of leukopenia, 948 cases (47.3%) of fatigue, 781 cases (39.0%) of nausea and vomiting, 709 cases (35.4%) of rash, and 670 cases (33.4%) of lower extremity edema. The score of the Morisky Medication Adherence Scale showed that 392 cases (19.6%) had poor adherence, 1023 cases (51.0%) had moderate adherence, and 590 cases (29.4%) had good adherence. Univariate analysis showed that gender, age, work status, economic income, residence, education level, marriage, the duration of taking medication and adverse reactions were associated with adherence to adjuvant imatinib therapy (all P<0.05). Multivariate analysis showed that female (OR=1.264, P=0.009), non-retirement (OR=1.454, P=0.001), monthly income ≤4000 yuan (OR=1.280, P=0.036), township residents (OR=1.332, P=0.005), unmarried or divorced or widowed (OR=1.362, P=0.026), the duration of imatinib medication >36 months (OR=1.478, P<0.001) and adverse reactions (OR=1.719, P=0.048) were independent risk factors for poor adherence to adjuvant imatinib. Among patients undergoing complete resection, 324 (19.7%) had poor adherence, 836 (50.9%) had moderate adherence, and 482 (29.4%) had good adherence. Meanwhile, 55 patients with good adherence (11.4%) developed recurrence after surgery, 121 patients with moderate adherence (14.5%) developed recurrence, 61 patients with poor adherence (18.8%) developed recurrence, and the difference was statistically significant (P=0.017). Conclusions: The adherence to adjuvant therapy with imatinib in Chinese GIST patients is relatively poor. Females, non-retirement, monthly income ≤4000 yuan, township residents, unmarried or divorced or widowed, the duration of imatinib medication >36 months, and adverse reactions are independently associated with poor adherence of GIST patients. Those with poor adherence have a higher risk of recurrence after surgery. Positive interventions based on the above risk factors are advocated to improve the prognosis of patients with GIST.


Assuntos
Antineoplásicos , Tumores do Estroma Gastrointestinal , Idoso , Idoso de 80 Anos ou mais , Antineoplásicos/uso terapêutico , Quimioterapia Adjuvante , Estudos Transversais , Feminino , Tumores do Estroma Gastrointestinal/tratamento farmacológico , Humanos , Mesilato de Imatinib/uso terapêutico , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/tratamento farmacológico
17.
Zhonghua Wei Chang Wai Ke Za Zhi ; 24(5): 403-412, 2021 May 25.
Artigo em Zh | MEDLINE | ID: mdl-34000769

RESUMO

Objective: To explore the effect of perioperative chemotherapy on the prognosis of gastric cancer patients under real-world condition. Methods: A retrospective cohort study was carried out. Real world data of gastric cancer patients receiving perioperative chemotherapy and surgery + adjuvant chemotherapy in 33 domestic hospitals from January 1, 2014 to January 31, 2016 were collected. Inclusion criteria: (1) gastric adenocarcinoma was confirmed by histopathology, and clinical stage was cT2-4aN0-3M0 (AJCC 8th edition); (2) D2 radical gastric cancer surgery was performed; (3) at least one cycle of neoadjuvant chemotherapy (NAC) was completed; (4) at least 4 cycles of adjuvant chemotherapy (AC) [SOX (S-1+oxaliplatin) or CapeOX (capecitabine + oxaliplatin)] were completed. Exclusion criteria: (1) complicated with other malignant tumors; (2) radiotherapy received; (3) patients with incomplete data. The enrolled patients who received neoadjuvant chemotherapy and adjuvant chemotherapy were included in the perioperative chemotherapy group, and those who received only postoperative adjuvant chemotherapy were included in the surgery + adjuvant chemotherapy group. Propensity score matching (PSM) method was used to control selection bias. The primary outcome were overall survival (OS) and progression-free survival (PFS) after PSM. OS was defined as the time from the first neoadjuvant chemotherapy (operation + adjuvant chemotherapy group: from the date of operation) to the last effective follow-up or death. PFS was defined as the time from the first neoadjuvant chemotherapy (operation + adjuvant chemotherapy group: from the date of operation) to the first imaging diagnosis of tumor progression or death. The Kaplan-Meier method was used to estimate the survival rate, and the Cox proportional hazards model was used to evaluate the independent effect of perioperative chemo therapy on OS and PFS. Results: 2 045 cases were included, including 1 293 cases in the surgery+adjuvant chemotherapy group and 752 cases in the perioperative chemotherapy group. After PSM, 492 pairs were included in the analysis. There were no statistically significant differences in gender, age, body mass index, tumor stage before treatment, and tumor location between the two groups (all P>0.05). Compared with the surgery + adjuvant chemotherapy group, patients in the perioperative chemotherapy group had higher proportion of total gastrectomy (χ(2)=40.526, P<0.001), smaller maximum tumor diameter (t=3.969, P<0.001), less number of metastatic lymph nodes (t=1.343, P<0.001), lower ratio of vessel invasion (χ(2)=11.897, P=0.001) and nerve invasion (χ(2)=12.338, P<0.001). In the perioperative chemotherapy group and surgery + adjuvant chemotherapy group, 24 cases (4.9%) and 17 cases (3.4%) developed postoperative complications, respectively, and no significant difference was found between two groups (χ(2)=0.815, P=0.367). The median OS of the perioperative chemotherapy group was longer than that of the surgery + adjuvant chemotherapy group (65 months vs. 45 months, HR: 0.74, 95% CI: 0.62-0.89, P=0.001); the median PFS of the perioperative chemotherapy group was also longer than that of the surgery+adjuvant chemotherapy group (56 months vs. 36 months, HR=0.72, 95% CI:0.61-0.85, P<0.001). The forest plot results of subgroup analysis showed that both men and women could benefit from perioperative chemotherapy (all P<0.05); patients over 45 years of age (P<0.05) and with normal body mass (P<0.01) could benefit significantly; patients with cTNM stage II and III presented a trend of benefit or could benefit significantly (P<0.05); patients with signet ring cell carcinoma benefited little (P>0.05); tumors in the gastric body and gastric antrum benefited more significantly (P<0.05). Conclusion: Perioperative chemotherapy can improve the prognosis of gastric cancer patients.


Assuntos
Neoplasias Gástricas , Quimioterapia Adjuvante , Feminino , Gastrectomia , Humanos , Masculino , Terapia Neoadjuvante , Estadiamento de Neoplasias , Prognóstico , Estudos Retrospectivos , Neoplasias Gástricas/tratamento farmacológico , Neoplasias Gástricas/patologia , Neoplasias Gástricas/cirurgia
18.
J Endocrinol Invest ; 33(3): 151-5, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19783895

RESUMO

BACKGROUND: 18F-fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) is a non-invasive whole-body imaging technique used to evaluate various types of malignancies. Recent advances have rapidly developed it into a diagnostic imaging tool in oncology. OBJECTIVES: In this study, the prevalence of thyroid incidentaloma and its cancer risk rate were investigated by 18F-FDG PET/CT. The threshold of maximal standardized uptake value (SUVmax) for differentiation of benign and malignant tumors was also defined. METHODS: From June 2007 to December 2008, 3600 subjects underwent 18F-FDG PET/CT in our department. Among the population under study, 115 subjects developed focal increased 18F-FDG uptake as thyroid incidentalomas and their SUVmax were analyzed qualitatively and semi-quantitatively. RESULTS: Data from the 18F-FDG PET/CT study suggested that overall prevalence of thyroid incidentaloma was 3.2% (115/3580). Among the 96 incidentalomas (20 confirmed by surgery; 76 confirmed by fine-needle aspiration) with additional cyto- and histopathological diagnoses, 50% were malignant thyroid lesions. Therefore, the cancer risk of thyroid incidentaloma was 50%. SUVmax values of the malignant samples were significantly higher than those of benign (p=0.00, p<0.05). A SUVmax above 8 tended to be malignant. A significant correlation between SUVmax and maximal diameter of the thyroid incidentaloma was also indicated. CONCLUSIONS: Thyroid incidentaloma detected by 18FFDG PET/CT has higher risk rate for thyroid malignancy; SUVmax can be used for differentiating benign from malignant thyroid tumors.


Assuntos
Fluordesoxiglucose F18 , Tomografia por Emissão de Pósitrons/métodos , Compostos Radiofarmacêuticos , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Biópsia por Agulha Fina , Feminino , Histocitoquímica , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Retrospectivos , Neoplasias da Glândula Tireoide/epidemiologia , Neoplasias da Glândula Tireoide/patologia , Imagem Corporal Total/métodos
19.
J Med Genet ; 46(7): 451-4, 2009 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19359265

RESUMO

BACKGROUND: Telomere length is a predictor for a number of common age related diseases and is a heritable trait. METHODS AND RESULTS: To identify new loci associated with mean leukocyte telomere length we conducted a genome wide association study of 314,075 single nucleotide polymorphisms (SNPs) and validated the results in a second cohort (n for both cohorts combined = 2790). We identified two novel associated variants (rs2162440, p = 2.6 x 10(-6); and rs7235755, p = 5.5 x 10(-6)) on chromosome 18q12.2 in the same region as the VPS34/PIKC3C gene, which has been directly implicated in the pathway controlling telomere length variation in yeast. CONCLUSION: These results provide new insights into the pathways regulating telomere homeostasis in humans.


Assuntos
Cromossomos Humanos Par 18 , Estudo de Associação Genômica Ampla/métodos , Leucócitos/ultraestrutura , Telômero/genética , Gêmeos , Estudos de Coortes , Interpretação Estatística de Dados , Feminino , Genoma Humano , Humanos , Leucócitos/metabolismo , Masculino , Polimorfismo de Nucleotídeo Único , Reprodutibilidade dos Testes , Fatores Sexuais , Telômero/química , Telômero/metabolismo
20.
J Med Genet ; 46(9): 614-6, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19508968

RESUMO

To identify the susceptibility gene in hand osteoarthritis (OA) the authors used a two-stage approach genome-wide association study using two discovery samples (the TwinsUK cohort and the Rotterdam discovery subset; a total of 1804 subjects) and four replication samples (the Chingford Study, the Chuvasha Skeletal Aging Study, the Rotterdam replication subset and the Genetics, Arthrosis, and Progression (GARP) Study; a total of 3266 people). Five single-nucleotide polymorphisms (SNPs) had a likelihood of association with hand OA in the discovery stage and one of them (rs716508), was successfully confirmed in the replication stage (meta-analysis p = 1.81x10(-5)). The C allele conferred a reduced risk of 33% to 41% using a case-control definition. The SNP is located in intron 1 of the A2BP1 gene. This study also found that the same allele of the SNP significantly reduced bone density at both the hip and spine (p<0.01), suggesting the potential mechanism of the gene in hand OA might be via effects on subchondral bone. The authors' findings provide a potential new insight into genetic mechanisms in the development of hand OA.


Assuntos
Estudo de Associação Genômica Ampla/métodos , Osteoartrite/genética , Proteínas de Ligação a RNA/genética , Estudos de Coortes , Feminino , Predisposição Genética para Doença , Mãos , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , Estudos Prospectivos , Fatores de Processamento de RNA
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