... provides a good yield of product, and is excellent regardless of the quality of the DNA template From: Methods in Molecular Medicine, vol 92: Molecular Diagnosis of Genetic Diseases, Second Edition ... (genotyping) and those that scan for any mutation in a par- From: Methods in Molecular Medicine, vol 92: Molecular Diagnosis of Genetic Diseases, Second Edition Edited by: R Elles and R Mountford © Humana ... only that type of mutation 5.4 Features of the DNA Sequence Analyzed Knowledge of the presence of common polymorphisms in the fragment to be analyzed may also affect the choice of method With...
Ngày tải lên: 11/04/2014, 09:51
molecular diagnosis of genetic diseases
... X (FraX) disease as a cause of mental retardation, and to clarify a diagnosis or suspicion of CF or Angelman/Prader Willi syndrome A feature of these molecular tests is that they are often highly ... services 12 Role of the Professional Bodies In the United Kingdom, a number of professional bodies have had an interest in the development of clinical molecular genetics over the last 10 yr Of note are ... technician level 10 Audit As part of the evaluation of the effectiveness of molecular genetic diagnosis, it has become necessary to standardize the collection of workload and activity data In...
Ngày tải lên: 11/04/2014, 09:52
... aware of two causes of variability First, the genetic variability of the microorganism and second, the variability of the immunological response of the host This response depends on the strain of ... seriously restricts the size of the sample, and hence the protein antigen has to be From: Methods in Molecular Medicine, vol 94: Molecular Diagnosis of Infectious Diseases, 2/e Edited by: J Decker ... result, a variety of differential screening methods have been developed over the last few years (1,2) From: Methods in Molecular Medicine, vol 94: Molecular Diagnosis of Infectious Diseases, 2/e...
Ngày tải lên: 11/04/2014, 09:52
Báo cáo y học: "Hepatitis C Virus Serologic and Virologic Tests and Clinical Diagnosis of HCVRelated Liver Disease"
... Association for the Study of Liver Diseases (AASLD), and of Current Hepatitis Reports, and a member of the Editorial Board of the Journal of Hepatology and of the Journal of Virological Methods ... likelihood of an SVR with a low dose of ribavirin and only 24 weeks of treatment [19, 23, 28] Thus, in the absence of contra-indications, these patients should be treated regardless of the severity of ... Professor at the University of Paris XII and a member of the Department of Virology and of INSERM Unit U635 at the Henri Mondor University Hospital in Créteil, France He focuses on teaching, diagnosis...
Ngày tải lên: 02/11/2012, 09:56
Báo cáo y học: "Advances in Molecular Diagnosis of HBV Infection and Drug Resistance"
... to Chronic HBV Disease When hepatitis B virus (HBV) infection is suspected, it is the appearance of serum markers of HBV infection that establishes the diagnosis of the disease Of these, HBsAg ... necessary should the rate of emergence of resistance and the impact of such mutations turn out to be clinically relevant for therapy management Molecular Mechanisms of Drug Resistance HBV is ... marker of infectivity in presence of precore/core promoter Relatively slower to detect drug resistance mutants Confirmation of spontaneous remission or co-infection Detection of low viral levels of...
Ngày tải lên: 03/11/2012, 09:41
Báo cáo khoa học : Tissue Doppler imaging for the diagnosis of coronary artery disease ppt
... of myocardial viability Eur Heart J 2003, 24(abstr suppl):242 Papers of particular interest, published within the annual period of review, have been highlighted as: • Of special interest •• Of ... velocity is a reflection of the early systolic lengthening, which is a hallmark of severe ischemia Penicka et al [18] tested the ability of IVC velocities to predict recovery of myocardial function ... limitation in the assessment of coronary artery disease, since finding of regional differences is more important than absolute values Methodological limitations of strain rate imaging Since strain...
Ngày tải lên: 29/06/2014, 11:20
báo cáo khoa học: " Systems medicine and the integration of bioinformatic tools for the diagnosis of Alzheimer’s disease" doc
... mobility of Aβ peptides, including dynamics of their self-assembly Lipidomics tools are now available for detailed studies of molecular lipids in cells and biofluids [48] Molecular profiling, ... 47:1196-1206 Ransohoff DF: Rules of evidence for cancer molecular- marker discovery and validation Nat Rev Cancer 2004, 4:309-314 Ransohoff DF: Bias as a threat to the validity of cancer molecular- marker ... patients and control subjects The data thus raise the prospect of a robust molecular definition of progression of Huntington’s disease before symptom onset and, if validated in a genuinely prospective...
Ngày tải lên: 11/08/2014, 12:21
Tài liệu Role of diffusion-weighted imaging in the diagnosis of gynecological diseases pdf
... usefulness of DWI for the detection of metastatic bone tumor Current status and future directions of DWI for gynecological diseases Figure 12 shows a decision-making diagram in the MRI diagnosis of gynecological ... the effect of therapy for uterine cervical cancer For the diagnosis, McVeigh et al [13] reported with larger Table DW studies with ADC values in uterine diseases Authors of Study Year of Publication ... They showed that the ADC value of the 752 Table DWI studies with ADC values in ovarian diseases Authors of Study Year of Publication Journal Tumour & Tissue (no of subjects) b-values Moteki et...
Ngày tải lên: 13/02/2014, 06:20
Tài liệu Molecular Neurobiology of Alzheimer Disease and Related Disorders doc
... Neurofilaments’, two satellite symposia entitled ‘Early Diagnosis of Alzheimer’s Disease and ‘Treatment of Alzheimer’s Disease , four luncheon seminars of ‘Strategy for BPSD’, ‘Neuroimaging of ... diagnostic markers of Alzheimer’s disease Active research is going on, aiming to elucidate the pathogenesis of Alzheimer’s disease Major topics of neurobiological study of Alzheimer’s disease include ... Molecular Neurobiology of Alzheimer Disease and Related Disorders To Megumi Takeda (September 12, 1957 – February 4, 2002) Molecular Neurobiology of Alzheimer Disease and Related...
Ngày tải lên: 14/02/2014, 17:20
Tài liệu The Diagnosis, Evaluation, and Management of von Willebrand Disease ppt
... 31 Making the Diagnosis of VWD 31 Special Considerations for Laboratory Diagnosis of VWD 32 Summary of the Laboratory Diagnosis of VWD 33 Diagnostic Recommendations 34 I Evaluation of Bleeding ... of VWD 57 Diagnosis and Evaluation 58 Management of VWD 58 Gene Therapy of VWD 59 Issues Specific to Women 59 Training of Specialists in Hemostasis 59 Table Level of Evidence Table Synopsis of ... variability of test performance and interpretation,180,181 and they are often not available at local testing laboratories Summary of the Laboratory Diagnosis of VWD The diagnosis of VWD can be...
Ngày tải lên: 21/02/2014, 12:20
Molecular Basis of Pulmonary Disease Insights from Rare Lung Disorders pdf
... Differential Diagnosis of Rare or Unusual Conditions The most essential aspect of the diagnosis of a rare pulmonary disease or condition is the formulation of a comprehensive differential diagnosis ... MD, University of Maryland, Circa 1950 (1) Abstract The National Institutes of Health Of ce of Rare Diseases (ORD) defines a rare or orphan disease as a disorder with a prevalence of fewer than ... emphasis of this chapter is the formulation of a differential diagnosis that encompasses rare noninfectious, nonmalignant lung diseases of adults and is based on the presence or absence of associated...
Ngày tải lên: 05/03/2014, 23:20
Diagnosis and management of chronic kidney disease docx
... patients with a diagnosis of chronic kidney disease Stages of disease In 2002, KDOQI proposed that CKD be stratified into five stages of disease based on the normalised GFR The cut-offs between stages ... 2.5.1) and an indication of any documented disease progression or an assessment of the risk of future progression (see Figure 1D) 13 Diagnosis and management of chronic kidney disease Figure 1: Example ... effect of dietary sodium intake on progression of kidney disease 22 2- 2++ Treatment 3.7.2 REDUCING THE RISK OF CARDIOVASCULAR DISEASE The evidence for the role of sodium in reducing the risk of...
Ngày tải lên: 08/03/2014, 14:20
New ESPGHAN guidelines for the diagnosis of Coeliac Disease in Children and Adolescents pptx
... al Celiac Disease EvidenceReport/ Technology Assessment No 104 AHRQ Publication No 04-E029-2, 2004 NICE Clinical Guidelines 86 Coeliac Disease: Recognition and assessment of coeliac disease UK, ... changed: risk and cost of invasive procedure (OEGD, histological work-up) versus risk of false positive diagnosis Asymptomatic person at genetic risk for CD Explain implication of positive test result(s) ... levels Conclusions The new guidelines will offer the option of omitting biopsies in selected cases with symptoms suggestive of CD without increasing the risk of misclassification Preconditions are...
Ngày tải lên: 22/03/2014, 09:20
KDIGO Clinical Practice Guideline for the Diagnosis, Evaluation, Prevention, and Treatment of Chronic Kidney Disease-Mineral and Bone Disorder (CKD-MBD) pdf
... definition of CKD–MBD and the development of the guideline statements 2: Methodological approach 3.1: Diagnosis of CKD–MBD: biochemical abnormalities 3.2: Diagnosis of CKD–MBD: bone 3.3: Diagnosis of ... frequency of assessment is based on the presence and persistence of identified abnormalities, the severity of abnormalities, all in the context of the degree and rate of change of GFR and the use of ... most recommendations The lack of ‘A’ and ‘B’ grades of overall quality of evidence is a result of the lack of patient-centered outcomes as end points in the majority of trials in this field, and...
Ngày tải lên: 22/03/2014, 09:20
Serological Diagnosis of Certain Human, Animal and Plant Diseases Edited by Moslih Al-Moslih potx
... involved in the diagnosis and care of patients as well as plants Moslih Al-Moslih Adjunct Professor, Infectious Disease Section, Dept of Pediatrics, College of Medicine, University of Colorado, ... Immunology and Serological Diagnosis of Echinococcosis 113 Wenbao Zhang, Jun Li, Renyong Lin, Hao Wen and Donald P McManus Serological Diagnosis of Autoimmune Disease Specific Coeliac Disease Antibodies ... of the characteristics of the infectious diseases caused by different microorganisms and to provide current, state -of- the-art guidelines on serological laboratory diagnosis In the last part of...
Ngày tải lên: 23/03/2014, 16:21
Diagnosis of Tuberculosis Disease potx
... TB disease Table 4.1 Symptoms of Pulmonary and Extrapulmonary TB Disease Symptoms of Pulmonary TB Disease Symptoms of Possible Extrapulmonary TB Disease (TB disease usually causes one or more of ... B False Chapter 4: Diagnosis of TB Disease 81 Chest Radiograph With pulmonary TB being the most common form of disease, the chest radiograph is useful for diagnosis of TB disease Chest abnormalities ... any of the tests does not exclude the diagnosis of TB disease or LTBI Chest Radiograph With pulmonary TB being the most common form of disease, the chest radiograph is useful for diagnosis of...
Ngày tải lên: 29/03/2014, 03:20
Báo cáo khoa học: Molecular basis of cerebral neurodegeneration in prion diseases pdf
... Regardless, the exact mechanism of the study clearly emphasizes a critical role of the GPI anchor of PrP in the pathogenesis of prion diseases No central nervous system toxicity of PrP missing the GPI-anchor ... trigger the generation of ‘toxic’ CtmPrP [11] This would link transmissible and genetic prion diseases and provide a common pathway of neurodegeneration in prion disease Of note, another group ... significantly increased generation of Ctm PrP In addition, several pieces of evidence have linked CtmPrP to neurodegeneration in transgenic mice Toxicity of transmembrane isoforms of PrP The evidence that...
Ngày tải lên: 30/03/2014, 09:20
advances and challenges in biosensor based diagnosis of infectious diseases
... biosensor diagnosis Diagnostic tests Sample Types of analytes Sites of infection Disease Table Standard in vitro diagnostics for representative infectious diseases (cont.) Expert Review of Molecular ... SK Commercialization of microfluidic point -of- care diagnostic devices Lab Chip 2012;12(12):2118-34 •• Discussion of challenges on commercialization of microfluidic point -of- care devices 57 Martinez ... al The era of molecular and other non-culture-based methods in diagnosis of sepsis Clin Microbiol Rev 2010;23(1): 235-51 140 Kotsaki A, Giamarellos-Bourboulis EJ Molecular diagnosis of sepsis...
Ngày tải lên: 13/05/2014, 13:59
Báo cáo nghiên cứu nông nghiệp " Improving the Quality of Diagnosis of Animal Disease in Vietnam " pot
... during the life of the project) Translation of a set of working notes into Vietnamese In Vietnam: 3) Delivery of workshops, which consisted of approximately one week’s preparation of laboratories ... beneficiaries of accurate diagnosis and advice are the farmers themselves, from both timely and accurate diagnosis, and also longer-term, in the framing of better strategic policies for disease control ... nature of the teaching programmes, and by provision of audiovisual equipment plus a library of teaching material in compact disc format The aims of this project fits with AusAID country strategy of...
Ngày tải lên: 22/06/2014, 13:20