This article explains the orthopedic approach to limping in children. This is a review article including a selected collection of new articles extracted from PubMed and Google Scholar searched for clinical points and ...This article explains the orthopedic approach to limping in children. This is a review article including a selected collection of new articles extracted from PubMed and Google Scholar searched for clinical points and beneficial approaches to limping children. In this paper, limping is divided into two categories, painful and painless. After stating the important points in the patient’s medical history and explaining specific examinations in this area, different gait types in children are explained and the best evaluation method for them is presented. Then, paraclinical examinations and imaging are described in a practical evaluation, high-risk etiologies of limping such as infections, tumors, and fractures are explained in detail and red flags are considered at each step. The algorithms and the list of differential diagnoses for each age group are included, which can provide physicians with a more comprehensive approach to limping in children.展开更多
目的探索血液筛查结果为HBsAg+&HBV DNA NR的HBV感染的血清学和分子生物学特性。方法通过重复核酸检测、PEG沉降病毒富集联合in-house的巢式PCR和实时荧光定量PCR,对HBsAg+&HBV DNA NR标本进行HBV DNA的确认、抗-HBc和HBsAg定...目的探索血液筛查结果为HBsAg+&HBV DNA NR的HBV感染的血清学和分子生物学特性。方法通过重复核酸检测、PEG沉降病毒富集联合in-house的巢式PCR和实时荧光定量PCR,对HBsAg+&HBV DNA NR标本进行HBV DNA的确认、抗-HBc和HBsAg定量检测,并将HBV序列与对照组HBV慢性感染和隐匿性感染序列进行比对分析。结果2011年1月~2020年12月,共检测标本792195份,筛选出HBsAg+&HBV DNA-标本53份(1∶14947)。获得S序列3份、Pre Core/Core序列4份,确认含有HBV DNA的标本有5份。Core区域发现独特氨基酸替换(P130T、P135Q/S、R151Q、G153S、S155F),可能对病毒包装、复制产生影响。结论血液筛查结果为HBsAg+&HBV DNA NR的血液存在极低水平的HBV DNA;低水平HBV DNA可能与Pre Core/Core区域的某些突变影响病毒复制有关。选择灵敏度更好的HBsAg和HBV DNA检测试剂能够进一步降低HBV经血传播的潜在风险。展开更多
We report here the case of a young patient with metastatic clear-cell sarcoma of the kidney resistant to standard chemotherapy, and with complete response under sorafenib treatment. The remarkable response of her tumo...We report here the case of a young patient with metastatic clear-cell sarcoma of the kidney resistant to standard chemotherapy, and with complete response under sorafenib treatment. The remarkable response of her tumor to sorafenib led us to study sorafenib molecular targets in the metastatic tissue. Background: Biomarkers predicting response to anti-angiogenic tyrosine kinase inhibitors remain to be identified. Methods and Findings: In this paper, we studied the molecular targets of sorafenib in the lung metastasis of a kidney clear-cell sarcoma. In a patient with complete response under sorafenib treatment, we showed high VEGFR2 expression by tumor endothelial cells from the lung metastasis. Conclusion: The original mechanistic results that we obtained using immunostainings and quantitative RT-PCR on laser-microdissected tumor endothelial cells have a direct application in daily clinical practice: metastatic tumors with a large angiogenic component should be tested for VEGFRs expression to consider anti-angiogenic tyrosine kinase inhibitor treatments.展开更多
The α synuclein gene (SNCA) has been implicated in autosomal dominant forms of Parkinsons disease. We screened 119 individuals from families with this rar e form of the disease for SNCA duplications by semiquantita...The α synuclein gene (SNCA) has been implicated in autosomal dominant forms of Parkinsons disease. We screened 119 individuals from families with this rar e form of the disease for SNCA duplications by semiquantitative multiplex PCR. T wo patients had duplications, which were confirmed by analysis of intragenic and flanking microsatellite markers. The phenotype in both patients was indistingui shable from idiopathic Parkinsons disease and no atypical features were presen t, by contrast with reports of families with triplication of the same gene. Thes e results indicate that SNCA is more frequently associated with familial Parkins ons disease than previously thought, and that there is a clear dosage effect a ccording to the number of supernumerary copies of this gene.展开更多
Background: this study aimed to assess the hypothesis that essential hypertens ion (EH) may increase coronary microcirculation dysfunction in patients with typ e 2 diabetes mellitus(DM). Microvascular dysfunction has ...Background: this study aimed to assess the hypothesis that essential hypertens ion (EH) may increase coronary microcirculation dysfunction in patients with typ e 2 diabetes mellitus(DM). Microvascular dysfunction has been reported in patien ts with DM or EH. Discordant results have been reported on cumulative adverse ef fects of the simultaneous presence of DM and EH on coronary flow velocity reserv e (CFR). Methods: CFR were compared in 13 hypertensive diabetics (group 1), 12 n ormotensive diabetics (group 2), 11 hypertensive non diabetics (group 3) and 29 normotensive non diabetic patients (group 4). CFR was calculated using an intrac oronary Doppler tipped flow wire. Results: CFR was significantly lower in patie nts with both DM and EH (2.2±0.4 in group 1 vs 2.8±0.5, 2.8±0.6 and 2.9±0.7 in groups 2, 3 and 4 respectively, p< 0.01). The presence of hypertension reduce d CFR in diabetic patients with angiographically abnormal but unobstructed coron ary arteries (2.1±0.3 in hypertensive vs 3.1±0.2 in normotensive diabetic pati ents, p< 0.02). No cumulative adverse effect was observed in diabetics with angi ographically normal coronary arteries (2.3±0.6 in hypertensive vs 2.6±0.5 in n ormotensive diabetic patients, NS). Multivariate analysis revealed that combinat ion of DM and EH (p< 0.007) was independently related to CFR. Conclusions: the p resence of hypertension appears to worsen coronary microangiopathy in diabetic p atients with unobstructed coronary artery disease. The cumulative effect of EH a nd DM on CFR impairment has consequences for decision making during coronary ang ioplasty and could identify patients at risk for cardiomyopathy.展开更多
The whole field of hematological malignancies has experienced a huge breakthrough during the past 40 years.Major methodological progress in cytogenetics(e.g.,fluorescence in situ hybridization,FISH),immunophenotyping(...The whole field of hematological malignancies has experienced a huge breakthrough during the past 40 years.Major methodological progress in cytogenetics(e.g.,fluorescence in situ hybridization,FISH),immunophenotyping(e.g.,multicolor flow cytometers),and molecular biology(with the discovery of numerous tumor molecular markers by polymerase chain reaction and,more recently,next-generation sequencing)has paved the way for the new concept of detecting and monitoring undetectable minimal residual disease(uMRD)and the engineering of multiple new targeted therapies,such as tyrosine kinase inhibitors and various immunotherapies,including monoclonal antibodies combined or not with antitumor agents,bispecific T-cell-engaging(BiTE)antibodies and chimeric antigen receptor T(CAR-T)cells(Supplementary Text 1 online).展开更多
文摘This article explains the orthopedic approach to limping in children. This is a review article including a selected collection of new articles extracted from PubMed and Google Scholar searched for clinical points and beneficial approaches to limping children. In this paper, limping is divided into two categories, painful and painless. After stating the important points in the patient’s medical history and explaining specific examinations in this area, different gait types in children are explained and the best evaluation method for them is presented. Then, paraclinical examinations and imaging are described in a practical evaluation, high-risk etiologies of limping such as infections, tumors, and fractures are explained in detail and red flags are considered at each step. The algorithms and the list of differential diagnoses for each age group are included, which can provide physicians with a more comprehensive approach to limping in children.
文摘目的探索血液筛查结果为HBsAg+&HBV DNA NR的HBV感染的血清学和分子生物学特性。方法通过重复核酸检测、PEG沉降病毒富集联合in-house的巢式PCR和实时荧光定量PCR,对HBsAg+&HBV DNA NR标本进行HBV DNA的确认、抗-HBc和HBsAg定量检测,并将HBV序列与对照组HBV慢性感染和隐匿性感染序列进行比对分析。结果2011年1月~2020年12月,共检测标本792195份,筛选出HBsAg+&HBV DNA-标本53份(1∶14947)。获得S序列3份、Pre Core/Core序列4份,确认含有HBV DNA的标本有5份。Core区域发现独特氨基酸替换(P130T、P135Q/S、R151Q、G153S、S155F),可能对病毒包装、复制产生影响。结论血液筛查结果为HBsAg+&HBV DNA NR的血液存在极低水平的HBV DNA;低水平HBV DNA可能与Pre Core/Core区域的某些突变影响病毒复制有关。选择灵敏度更好的HBsAg和HBV DNA检测试剂能够进一步降低HBV经血传播的潜在风险。
文摘We report here the case of a young patient with metastatic clear-cell sarcoma of the kidney resistant to standard chemotherapy, and with complete response under sorafenib treatment. The remarkable response of her tumor to sorafenib led us to study sorafenib molecular targets in the metastatic tissue. Background: Biomarkers predicting response to anti-angiogenic tyrosine kinase inhibitors remain to be identified. Methods and Findings: In this paper, we studied the molecular targets of sorafenib in the lung metastasis of a kidney clear-cell sarcoma. In a patient with complete response under sorafenib treatment, we showed high VEGFR2 expression by tumor endothelial cells from the lung metastasis. Conclusion: The original mechanistic results that we obtained using immunostainings and quantitative RT-PCR on laser-microdissected tumor endothelial cells have a direct application in daily clinical practice: metastatic tumors with a large angiogenic component should be tested for VEGFRs expression to consider anti-angiogenic tyrosine kinase inhibitor treatments.
文摘The α synuclein gene (SNCA) has been implicated in autosomal dominant forms of Parkinsons disease. We screened 119 individuals from families with this rar e form of the disease for SNCA duplications by semiquantitative multiplex PCR. T wo patients had duplications, which were confirmed by analysis of intragenic and flanking microsatellite markers. The phenotype in both patients was indistingui shable from idiopathic Parkinsons disease and no atypical features were presen t, by contrast with reports of families with triplication of the same gene. Thes e results indicate that SNCA is more frequently associated with familial Parkins ons disease than previously thought, and that there is a clear dosage effect a ccording to the number of supernumerary copies of this gene.
文摘Background: this study aimed to assess the hypothesis that essential hypertens ion (EH) may increase coronary microcirculation dysfunction in patients with typ e 2 diabetes mellitus(DM). Microvascular dysfunction has been reported in patien ts with DM or EH. Discordant results have been reported on cumulative adverse ef fects of the simultaneous presence of DM and EH on coronary flow velocity reserv e (CFR). Methods: CFR were compared in 13 hypertensive diabetics (group 1), 12 n ormotensive diabetics (group 2), 11 hypertensive non diabetics (group 3) and 29 normotensive non diabetic patients (group 4). CFR was calculated using an intrac oronary Doppler tipped flow wire. Results: CFR was significantly lower in patie nts with both DM and EH (2.2±0.4 in group 1 vs 2.8±0.5, 2.8±0.6 and 2.9±0.7 in groups 2, 3 and 4 respectively, p< 0.01). The presence of hypertension reduce d CFR in diabetic patients with angiographically abnormal but unobstructed coron ary arteries (2.1±0.3 in hypertensive vs 3.1±0.2 in normotensive diabetic pati ents, p< 0.02). No cumulative adverse effect was observed in diabetics with angi ographically normal coronary arteries (2.3±0.6 in hypertensive vs 2.6±0.5 in n ormotensive diabetic patients, NS). Multivariate analysis revealed that combinat ion of DM and EH (p< 0.007) was independently related to CFR. Conclusions: the p resence of hypertension appears to worsen coronary microangiopathy in diabetic p atients with unobstructed coronary artery disease. The cumulative effect of EH a nd DM on CFR impairment has consequences for decision making during coronary ang ioplasty and could identify patients at risk for cardiomyopathy.
基金supported by the National Key R&D Program of China(2021YFA1100902 and 2017YFA0104500)the National Natural Science Foundation of China(81930004 and 82070182)+1 种基金Beijing Nova Program of Science and Technology(Z191100001119120)Fund of China Scholarship Council(202106015007)。
文摘The whole field of hematological malignancies has experienced a huge breakthrough during the past 40 years.Major methodological progress in cytogenetics(e.g.,fluorescence in situ hybridization,FISH),immunophenotyping(e.g.,multicolor flow cytometers),and molecular biology(with the discovery of numerous tumor molecular markers by polymerase chain reaction and,more recently,next-generation sequencing)has paved the way for the new concept of detecting and monitoring undetectable minimal residual disease(uMRD)and the engineering of multiple new targeted therapies,such as tyrosine kinase inhibitors and various immunotherapies,including monoclonal antibodies combined or not with antitumor agents,bispecific T-cell-engaging(BiTE)antibodies and chimeric antigen receptor T(CAR-T)cells(Supplementary Text 1 online).