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Diagnostic Strategies (diagnostic + strategy)
Selected AbstractsPatent Foramen Ovale: Comparison among Diagnostic Strategies in Cryptogenic Stroke and MigraineECHOCARDIOGRAPHY, Issue 5 2009Concetta Zito M.D. Objective: The aim of this study was to compare transthoracic echocardiography (TTE) and transcranial Doppler ultrasonography (TCD) with transesophageal echocardiography (TEE) in order to define the best clinical approach to patent foramen ovale (PFO) detection. Methods: In total, 72 consecutive patients (33 men) with a mean age of 49 ± 13 years were prospectively enrolled. The TEE indication was cryptogenic stroke (36 patients) or migraine (36 patients, 22 with aura). All patients underwent standard TTE, TCD, and TEE examination. For any study, a contrast test was carried on using an agitated saline solution mixed with urea-linked gelatine (Haemaccel), injected as a rapid bolus via a right antecubital vein. A prolonged Valsalva maneuver was performed to improve test sensitivity. Results: TEE identified a PFO in 65% of the whole population: 56.5% in the migraine cohort and 43.5% in the cryptogenic stroke cohort. TTE was able to detect a PFO in 55% of patients positive at TEE (54% negative predictive value, 100% positive predictive value, 55% sensitivity, and 100% specificity). TCD was able to identify a PFO in 97% of patients positive at TEE (89% negative predictive value, 98% positive predictive value, 94% sensitivity, and 96% specificity). Conclusions: In patients with cryptogenic stroke and migraine, there is a fair concordance (k = 0.89) between TCD and TEE in PFO recognition. Accordingly, TCD should be recommended as a simple, noninvasive, and reliable technique, whereas TEE indication should be restricted to selected patients. TTE is a very specific technique, whose major advantage is the ability to detect a large right-to-left shunt, particularly if associated with an atrial septal aneurysm. [source] International survey on esophageal cancer: part II staging and neoadjuvant therapyDISEASES OF THE ESOPHAGUS, Issue 3 2009J. Boone SUMMARY The outcome of esophagectomy could be improved by optimal diagnostic strategies leading to adequate preoperative patient selection. Neoadjuvant therapy could improve outcome by increasing the number of radical resections and by controlling metastatic disease. The purposes of this study were to gain insight into the current worldwide practice of staging modalities and neoadjuvant therapy in esophageal cancer, and to detect intercontinental differences. Surgeons with particular interest in esophageal surgery, including members of the International Society for Diseases of the Esophagus, the European Society of Esophagology , Group d'Etude Européen des Maladies de l'Oesophage, and the OESO, were invited to participate in an online questionnaire. Questions were asked regarding staging modalities, neoadjuvant therapy, and response evaluation applied in esophageal cancer patients. Of 567 invited surgeons, 269 participated resulting in a response rate of 47%. The responders currently performing esophagectomies (n= 250; 44%) represented 41 countries across the six continents. Esophagogastroscopy with biopsy and computed tomography (CT) scanning were routinely performed by 98% of responders for diagnosing and staging esophageal cancer, while endoscopic ultrasound (EUS) and barium esophagography were routinely applied by 58% and 51%, respectively. Neoadjuvant therapy is routinely administered by 33% and occasionally by 63% of responders. Of the responders that administer identical neoadjuvant regimens to esophageal adenocarcinoma (AC) and squamous cell carcinoma, 54% favor chemoradiotherapy. For AC, chemotherapy is preferred by 31% of the responders that administer neoadjuvant therapy, whereas for squamous cell carcinoma, the majority of responders (38%) prefer chemoradiotherapy. Response to neoadjuvant therapy is predominantly assessed by CT scanning of the chest and abdomen (86%). Barium esophagography, EUS, and combined CT/PET scan are requested for response monitoring in equal frequency (25%). Substantial differences in applied staging modalities and neoadjuvant regimens were detected between surgeons from different continents. In conclusion, currently the most commonly applied diagnostic modalities for staging and restaging esophageal cancer are CT scanning of the chest and abdomen, gastroscopy, barium esophagography and EUS. Neoadjuvant therapy is routinely applied by one third of the responders. Intercontinental differences have been detected in the diagnostic modalities applied in esophageal cancer staging and in the administration of neoadjuvant therapy. The results of this survey provide baseline data for future research and for the development of international guidelines. [source] Explanatory models in the interpretations of clinical features of dental patients within a university dental education settingEUROPEAN JOURNAL OF DENTAL EDUCATION, Issue 1 2002Gerardo Maupome Clinicians may acquire biased perceptions during their dental education that can affect decisions about treatment/management of dental decay. This study established explanatory models used by students to interpret clinical features of patients. It employed a stereotypical dental patient under standardised consultation conditions to identify the interpretation of oral health/disease features in the eyes of student clinicians. The study aimed to establish the perceptions of the patient as a client of the university dental clinic, as seen through the ideological lens of a formal Dental Education system. The discourse during simulated clinical consultations was qualitatively analysed to interpret values and concepts relevant to the assessment of restorative treatment needs and oral health status. Three constructs during the consultation were identified: the Dual Therapeutic Realms, the Choices Underlying Treatment Options, and the High-Risk Triad. Comparing these discourse components, the Patient Factors of the Bader and Shugars model for treatment decisions supported the existence of a core set of themes. It was concluded that certain consultation circumstances influenced the adequacy of diagnostic strategies, mainly by introducing loosely defined but highly specific socio-cultural biases ingrained in the Dental Education concepts and diagnostic/treatment needs systems. [source] Enzymes in the acquired enamel pellicleEUROPEAN JOURNAL OF ORAL SCIENCES, Issue 1 2005Christian Hannig The acquired pellicle is a biofilm, free of bacteria, covering oral hard and soft tissues. It is composed of mucins, glycoproteins and proteins, among which are several enzymes. This review summarizes the present state of research on enzymes and their functions in the dental pellicle. Theoretically, all enzymes present in the oral cavity could be incorporated into the pellicle, but apparently enzymes are adsorbed selectively onto dental surfaces. There is clear evidence that enzymes are structural elements of the pellicle. Thereby they exhibit antibacterial properties but also facilitate bacterial colonization of dental hard tissues. Moreover, the immobilized enzymes are involved in modification and in homeostasis of the salivary pellicle. It has been demonstrated that amylase, lysozyme, carbonic anhydrases, glucosyltransferases and fructosyltransferase are immobilized in an active conformation in the pellicle layer formed in vivo. Other enzymes, such as peroxidase or transglutaminase, have been investigated in experimental pellicles. Despite the depicted impact of enzymes on the formation and function of pellicle, broader knowledge on their properties in the in vivo -formed pellicle is required. This might be beneficial in the development of new preventive and diagnostic strategies. [source] Charting protein complexes, signaling pathways, and networks in the immune systemIMMUNOLOGICAL REVIEWS, Issue 1 2006Angela Bauch Summary:, Systematic deciphering of protein,protein interactions has the potential to generate comprehensive and instructive signaling networks and to fuel new therapeutic and diagnostic strategies. Here, we describe how recent advances in high-throughput proteomic technologies, involving biochemical purification methods and mass spectrometry analysis, can be applied systematically to the characterization of protein complexes and the computation of molecular networks. The networks obtained form the basis for further functional analyses, such as knockdown by RNA interference, ultimately leading to the identification of nodes that represent candidate targets for pharmacological exploitation. No individual experimental approach can accurately elucidate all critical modulatory components and biological aspects of a signaling network. Such functionally annotated protein,protein interaction networks, however, represent an ideal platform for the integration of additional datasets. By providing links between molecules, they also provide links to all previous observations associated with these molecules, be they of genetic, pharmacological, or other origin. As exemplified here by the analysis of the tumor necrosis factor (TNF)-,/nuclear factor-,B (NF-,B) signaling pathway, the approach is applicable to any mammalian cellular signaling pathway in the immune system. [source] Comparison of the performance of rapid HIV tests using samples collected for surveillance in Mozambique,JOURNAL OF MEDICAL VIROLOGY, Issue 12 2009Josefa Melo Abstract Mozambique had low HIV prevalence until the mid-1990s, but recent data indicate increasing rates. There is little information on HIV-2. Therefore, HIV seroprevalence was assessed among pregnant women and field-ready HIV diagnostic strategies were evaluated. A total of 6,930 samples collected by three health centers from 2002 to 2005 were tested on site by nurses with two simple/rapid tests, Determine HIV-1/2 (Abbott Laboratories; screening) and Uni-Gold HIV (Trinity Biotech; confirmation), which is the national HIV testing strategy. The prevalence of HIV was 14.0% (2002), 17.8% (2003), 16.5% (2004), and 20.2% (2005). A subset of 888 samples collected 2003 was sent to the Central Microbiology Laboratory, Maputo for evaluation of tests and testing strategies. The assays included for comparison were Capillus HIV-1/HIV-2 (Trinity Biotech), DoubleCheckGold HIV-1&2 (Orgenics) and Enzygnost Anti-HIV-1/2 Plus (Behringwerke, reference ELISA). Confirmation of reactive samples was done by Uni-Gold HIV and ImmunoComb II HIV-1&2 BiSpot (for HIV type differentiation). The Capillus HIV-1/ HIV-2,+,ImmunoComb II HIV-1&2 BiSpot combination was the gold standard. The sensitivity of the rapid/simple screening assays (Determine HIV-1/2, DoubleCheckGold HIV-1&2) was 100% (N,=,160) and their (initial) specificities were 99.6% and 99.7%, respectively. Repeated testing and combinations of assays increased the specificity. Four suspected cases of recent seroconversion were found. Together with the increasing prevalence rates, this may indicate that Mozambique is a high-incidence area, although further studies are needed to confirm this. Testing strategies for on-site screening and confirmation based on the combination of Determine HIV-1/2, Uni-Gold HIV and DoubleCheckGold HIV-1&2 are well suited for local field use. J. Med. Virol. 81:1991,1998, 2009. © 2009 Wiley-Liss, Inc. [source] ORIGINAL ARTICLE: Subsegmental pulmonary embolism diagnosed by computed tomography: incidence and clinical implications.JOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 8 2010A systematic review, meta-analysis of the management outcome studies Summary.,Background:,Multiple-detectors computed tomographic pulmonary angiography (CTPA) has a higher sensitivity for pulmonary embolism (PE) within the subsegmental pulmonary arteries as compared with single-detector CTPA. Multiple-detectors CTPA might increase the rate of subsegmental PE diagnosis. The clinical significance of subsegmental PE is unknown. We sought to summarize the proportion of subsegmental PE diagnosed with single- and multiple-detectors CTPA and assess the safety of diagnostic strategies based on single- or multiple-detectors CTPA to exclude PE. Patients and methods:,A systematic literature search strategy was conducted using MEDLINE, EMBASE and the Cochrane Register of Controlled Trials. We selected 22 articles (20 prospective cohort studies and two randomized controlled trials) that included patients with suspected PE who underwent a CTPA and reported the rate of subsegmental PE. Two reviewers independently extracted data onto standardized forms. Results:,The rate of subsegmental PE diagnosis was 4.7% [95% confidence interval (CI): 2.5,7.6] and 9.4 (95% CI: 5.5,14.2) in patients that underwent a single- and multiple-detectors CTPA, respectively. The 3-month thromboembolic risks in patients with suspected PE and who were left untreated based on a diagnostic algorithm including a negative CTPA was 0.9% (95% CI: 0.4,1.4) and 1.1% (95% CI: 0.7,1.4) for single- and multiple-detectors CTPA, respectively. Conclusion:,Multiple-detectors CTPA seems to increase the proportion of patients diagnosed with subsegmental PE without lowering the 3-month risk of thromboembolism suggesting that subsegmental PE may not be clinically relevant. [source] Hereditary hemorrhagic telangiectasia: from molecular biology to patient careJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 7 2010S. DUPUIS-GIROD Summary., Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by severe and recurrent nosebleeds, mucocutaneous telangiectases, and, in some cases, life-threatening visceral arteriovenous malformations of various types, including pulmonary, hepatic, cerebral, and spinal. Gastrointestinal telangiectases are frequent and may cause severe bleeding. HHT type 1 results from mutations in ENG on chromosome 9 (coding for endoglin), and HHT type 2 results from mutations in ACVRL1 on chromosome 12 (coding for activin receptor-like kinase 1). Mutations of either of these two genes account for most clinical cases. In addition, mutations in MADH4 (encoding SMAD4), which cause a juvenile polyposis/HHT overlap syndrome, have been described, and recently, an HHT3 locus on chromosome 5 (5q31.3,5q32) has been reported. The mutated genes in HHT encode proteins that modulate transforming growth factor-, superfamily signaling in vascular endothelial cells. Management of patients has changed considerably in the last 20 years, in terms of both treatment and the prevention of complications. The goal of this review was to describe the underlying molecular and cellular physiopathology, explore clinical and genetic diagnostic strategies for HHT, and present clinical management recommendations in order to treat symptomatic disease and to screen for vascular malformations. [source] Function-modulating human monoclonal antibodies against platelet-membrane receptors isolated from a phage-display libraryJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 8 2003Y. Hagay Summary., Monoclonal antibodies to platelet membrane receptors have been used extensively for analysis of receptor structure and function. Function-blocking human antibodies are being used for the development of antiplatelet drugs. We isolated human monoclonal antibodies from a library of single-chain Fv (scFv) antibodies displayed on the surface of filamentous phage, by selection on whole platelets. Eight different platelet-binding clones were isolated, of which three bound to the platelet-membrane glycoprotein (GP) GPIb in an ELISA assay. Specific elution with a recombinant polypeptide of von Willebrand factor (VWF) spanning the GPIb, binding site, yielded the same three phage clones. Two of the three anti-GPIb clones could be purified as scFv monoclonal antibodies, and they competed with each other for binding to intact platelets, suggesting that they bind at or near the same site on GPIb. Their binding affinities differed, however, and the clone with higher affinity inhibited ristocetin-induced platelet aggregation. These data indicate that selection from a phage display library of human scFvs using whole platelets can be applied for the isolation of functional antiplatelet-GPIb antibodies useful for the development of new therapeutic and diagnostic strategies. [source] Review article: the modern diagnosis and management of haemochromatosisALIMENTARY PHARMACOLOGY & THERAPEUTICS, Issue 12 2006P. C. ADAMS Summary Haemochromatosis is the most common genetic disease in populations of European ancestry. Despite estimates based on genetic testing in Caucasian populations of 1 in 227, many physicians consider haemochromatosis to be a rare disease. The diagnosis can be elusive because of the non-specific nature of the symptoms. Of all the symptoms, liver disease has the most consistent relationship to haemochromatosis and the prognosis of haemochromatosis is most closely linked to the degree of iron overload. With the discovery of the HFE gene in 1996, comes new insights into the pathogenesis of the disease and new diagnostic strategies. However, a growing number of new iron-related genes have been discovered and linked to other iron overload syndromes. [source] Decision analysis: an aid to the diagnosis of Whipple's diseaseALIMENTARY PHARMACOLOGY & THERAPEUTICS, Issue 6 2006M. OLMOS Summary Background Diagnosis of Whipple's disease, a rare systemic infection affecting predominantly the small bowel, is based on the identification of the bacterium Tropheryma whipplei. Aims To make explicit diagnostic uncertainties in Whipple's disease through a decision analysis, considering two different clinical scenarios at presentation. Methods Using appropriate software, a decision tree estimated the consequences after testing different strategies for diagnosis of Whipple's disease. Probabilities and outcomes to determine the optimum expected value were based on MEDLINE search. Results In patients with clinically-predominant intestinal involvement, diagnostic strategies considering intestinal biopsy for histology (including appropriate staining) and the polymerase chain reaction testing for bacterial DNA were similarly effective. In case of failure of one procedure, the best sequential choice was a polymerase chain reaction analysis after a negative histology. Of the five strategies tested for cases with predominant focal neurological involvement, the stereotaxis cerebral biopsy evidenced the highest expected value. However, using quality-adjusted life-years considering the morbidity of methods, intestinal biopsy for PCR determination was the best choice. Conclusions In patients with Whipple's disease having predominant digestive involvement, intestinal biopsies for histology should be indicated first and, if negative, a bacterial polymerase chain reaction determination should be the next option. Although the molecular polymerase chain reaction assessment of cerebral biopsies has the highest diagnostic yield in neurological Whipple's disease, its associated morbidity means that analyses of intestinal samples are more appropriate. [source] Grading quality of evidence and strength of recommendations in clinical practice guidelines: Part 2 of 3.ALLERGY, Issue 8 2009The GRADE approach to grading quality of evidence about diagnostic tests, strategies The GRADE approach to grading the quality of evidence and strength of recommendations provides a comprehensive and transparent approach for developing clinical recommendations about using diagnostic tests or diagnostic strategies. Although grading the quality of evidence and strength of recommendations about using tests shares the logic of grading recommendations for treatment, it presents unique challenges. Guideline panels and clinicians should be alert to these special challenges when using the evidence about the accuracy of tests as the basis for clinical decisions. In the GRADE system, valid diagnostic accuracy studies can provide high quality evidence of test accuracy. However, such studies often provide only low quality evidence for the development of recommendations about diagnostic testing, as test accuracy is a surrogate for patient-important outcomes at best. Inferring from data on accuracy that using a test improves outcomes that are important to patients requires availability of an effective treatment, improved patients' wellbeing through prognostic information, or , by excluding an ominous diagnosis , reduction of anxiety and the opportunity for earlier search for an alternative diagnosis for which beneficial treatment can be available. Assessing the directness of evidence supporting the use of a diagnostic test requires judgments about the relationship between test results and patient-important consequences. Well-designed and conducted studies of allergy tests in parallel with efforts to evaluate allergy treatments critically will encourage improved guideline development for allergic diseases. [source] Diagnostic reasoning strategies and diagnostic successMEDICAL EDUCATION, Issue 8 2003S Coderre Purpose Cognitive psychology research supports the notion that experts use mental frameworks or ,schemes', both to organize knowledge in memory and to solve clinical problems. The central purpose of this study was to determine the relationship between problem-solving strategies and the likelihood of diagnostic success. Methods Think-aloud protocols were collected to determine the diagnostic reasoning used by experts and non-experts when attempting to diagnose clinical presentations in gastroenterology. Results Using logistic regression analysis, the study found that there is a relationship between diagnostic reasoning strategy and the likelihood of diagnostic success. Compared to hypothetico-deductive reasoning, the odds of diagnostic success were significantly greater when subjects used the diagnostic strategies of pattern recognition and scheme-inductive reasoning. Two other factors emerged as independent determinants of diagnostic success: expertise and clinical presentation. Not surprisingly, experts outperformed novices, while the content area of the clinical cases in each of the four clinical presentations demonstrated varying degrees of difficulty and thus diagnostic success. Conclusions These findings have significant implications for medical educators. It supports the introduction of ,schemes' as a means of enhancing memory organization and improving diagnostic success. [source] New algorithm (KAWAKAMI algorithm) to diagnose primary cutaneous vasculitisTHE JOURNAL OF DERMATOLOGY, Issue 2 2010Tamihiro KAWAKAMI Abstract Palpable purpura tends to indicate involvement of small vessel vasculitis in the upper dermis. Livedo racemosa, nodular lesion and skin ulceration are indicative of involvement of small to medium-sized vessel vasculitis in the lower dermis to subcutaneous fat. We set out to establish a new algorithm (KAWAKAMI algorithm) for primary cutaneous vasculitis based on the Chapel Hill Consensus Conference classification and our research results, and apply to the diagnosis. The first step is to measure serum antineutrophil cytoplasmic antibodies (ANCA) levels. If myeloperoxidase-ANCA is positive, Churg,Strauss syndrome or microscopic polyangiitis can be suspected, and if the patient is positive for proteinase 3-ANCA, Wegener's granulomatosis is most likely. Next, if cryoglobulin is positive, cryoglobulinemic vasculitis should be suspected. Third, if direct immunofluorescence of the skin biopsy specimen reveals immunoglobulin A deposition within the affected vessels, Henoch,Schönlein purpura is indicated. Finally, the presence of anti-phosphatidylserine,prothrombin complex antibodies and/or lupus anticoagulant and histopathological necrotizing vasculitis in the upper to middle dermis (leukocytoclastic vasculitis) indicates cutaneous leukocytoclastic angiitis, whereas if necrotizing vasculitis exists in the lower dermis and/or is associated with the subcutaneous fat, cutaneous polyarteritis nodosa is indicated. The KAWAKAMI algorithm may allow us to refine our earlier diagnostic strategies and allow for efficacious treatment of primary cutaneous vasculitis. In cutaneous polyarteritis nodosa, warfarin or clopidogrel therapies should be administrated, and in cases that have associated active inflammatory lesions, corticosteroids or mizoribine (mycophenolate mofetil) therapy should be added. We further propose prophylactic treatment of renal complications in patients with Henoch,Schönlein purpura. [source] Prevalence, phenotypic and genetic characteristics of prolyliminopeptidase-negative Neisseria gonorrhoeae isolates in Sweden during 2000,2007APMIS, Issue 12 2009EMMA JOHANSSON In Neisseria gonorrhoeae culture diagnostics, species confirmation is commonly performed using commercial biochemical tests relying on prolyliminopeptidase (PIP) activity. It was previously shown that one PIP-negative strain was mainly globally transmitted during 2000,2004. The aims were to investigate the prevalence and phenotypic and genetic characteristics of PIP-negative N. gonorrhoeae isolates in Sweden during 2000,2007. Gonococcal isolates (n = 1230) cultured in Sweden during 2000,2007 were characterized using PIP screening, antibiogram, serovar determination, pip and porB gene sequencing, and N. gonorrhoeae multiantigen sequence typing (NG-MAST). Fifteen (1.2%) of the isolates were PIP-negative. Of those, 13 (87%) were indistinguishable to the previously described globally transmitted strain, i.e. displayed serovar IB-4 (Bpyvut), similar antibiograms, ST210 (n = 10)/ST292 (n = 3) and contained an identical single nucleotide pip gene deletion. Wherever high reliance is placed on PIP activity for N. gonorrhoeae species confirmation, changes in the diagnostic strategies may need to be considered and/or monitoring of the PIP activity is crucial. [source] Patients' preferences in the evaluation of postmenopausal bleedingBJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 9 2007A Timmermans Objective, To assess patients' preferences for diagnostic management of postmenopausal bleeding (PMB). Design, A structured interview. Setting, A teaching hospital with office hysteroscopy facilities. Population, Thirty-nine women with PMB and with a completed work-up including an office hysteroscopy. Methods, A structured interview was taken from 39 women who had had an office hysteroscopy in the diagnostic work-up for PMB. Women were informed about the probability of endometrial carcinoma versus benign disease and about advantages and disadvantages of different diagnostic strategies, i.e. expectant management after ultrasound or complete diagnostic work-up, including invasive procedures. Main outcome measures, Women were informed about the probability of endometrial carcinoma versus benign disease and about advantages and disadvantages of different diagnostic strategies, i.e., expectant management after ultrasound or complete diagnostic work-up including invasive procedures. Women were asked to make a trade-off between different options. Results, Most women wanted to be 100% certain that carcinoma could be ruled out. Only 5% of the women were willing to accept more than 5% risk of false reassurance. If the risk of recurrent bleeding due to benign disease exceeded 25%, the majority of women would prefer immediate diagnosis and treatment of benign lesions. Conclusion, Women with PMB are prepared to undergo hysteroscopy to rule out any risk on cancer. This finding implicates that the measurement of endometrial thickness with transvaginal ultrasound as a first-line test in the assessment of PMB should be reconsidered. [source] Performance of the Now Malaria rapid diagnostic test with returned travellers: a 2-year retrospective study in a French teaching hospitalCLINICAL MICROBIOLOGY AND INFECTION, Issue 11 2005F. Durand Abstract Malaria caused by Plasmodium falciparum remains the major life-threatening parasitic infection in the world. The number of cases in non-endemic countries continues to increase, and it is important that misdiagnosis of malaria should not occur, especially in non-immune travellers, because of the high risk of a fatal outcome. In a retrospective study of 399 sera, the Now Malaria rapid test was compared with the quantitative buffy coat (QBC) test and microbiological examination of thin blood films. Compared with the QBC test and thin blood films, the Now Malaria test had sensitivity and specificity values of 96.4% and 97%, respectively, for the detection of pure P. falciparum infection. A negative predictive value of 99.4% allows this test to be included in diagnostic strategies for patients presenting with clinical suspicion of malaria. Two false-negative results were associated with low levels of parasitaemia in the specimens. Thus, use of the Now Malaria test alone to detect P. falciparum infection in non-endemic countries could lead to misdiagnosis of malaria. This rapid diagnostic test should therefore be performed in association with another prompt traditional method such as examination of thin blood films. [source] Poorly differentiated tumours of the anal canal: a diagnostic strategy for the surgical pathologistHISTOPATHOLOGY, Issue 1 2007B Balachandra Poorly differentiated malignancies affecting the anal canal are uncommon but pose diagnostic difficulties because of the wide range of normal cell types that may occur within a limited anatomical region. The range of lesions that may present as poorly differentiated tumours includes squamous cell carcinoma, adenocarcinoma, small and large cell neuroendocrine carcinoma, neuroendocrine carcinoma expressing epithelial cytokeratins and other patterns of mixed differentiation, undifferentiated carcinoma, malignant melanoma, lymphoma and secondary tumours. This review discusses the differential diagnosis of these neoplasms with the aid of short illustrative case studies. [source] Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations,HUMAN MUTATION, Issue 7 2009Marc Ferré Abstract We report the results of molecular screening in 980 patients carried out as part of their work-up for suspected hereditary optic neuropathies. All the patients were investigated for Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA), by searching for the ten primary LHON-causing mtDNA mutations and examining the entire coding sequences of the OPA1 and OPA3 genes, the two genes currently identified in ADOA. Molecular defects were identified in 440 patients (45% of screened patients). Among these, 295 patients (67%) had an OPA1 mutation, 131 patients (30%) had an mtDNA mutation, and 14 patients (3%), belonging to three unrelated families, had an OPA3 mutation. Interestingly, OPA1 mutations were found in 157 (40%) of the 392 apparently sporadic cases of optic atrophy. The eOPA1 locus-specific database now contains a total of 204 OPA1 mutations, including 77 novel OPA1 mutations reported here. The statistical analysis of this large set of mutations has led us to propose a diagnostic strategy that should help with the molecular work-up of optic neuropathies. Our results highlight the importance of investigating LHON-causing mtDNA mutations as well as OPA1 and OPA3 mutations in cases of suspected hereditary optic neuropathy, even in absence of a family history of the disease. © 2009 Wiley-Liss, Inc. [source] Protein- and mRNA-based phenotype,genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene,HUMAN MUTATION, Issue 2 2007Nathalie Deburgrave Abstract Straightforward detectable Duchenne muscular dystrophy (DMD) gene rearrangements, such as deletions or duplications involving an entire exon or more, are involved in about 70% of dystrophinopathies. In the remaining 30% a variety of point mutations or "small" mutations are suspected. Due to their diversity and to the large size and complexity of the DMD gene, these point mutations are difficult to detect. To overcome this diagnostic issue, we developed and optimized a routine muscle biopsy,based diagnostic strategy. The mutation detection rate is almost as high as 100% and mutations were identified in all patients for whom the diagnosis of DMD and Becker muscular dystrophy (BMD) was clinically suspected and further supported by the detection on Western blot of quantitative and/or qualitative dystrophin protein abnormalities. Here we report a total of 124 small mutations including 11 nonsense and frameshift mutations detected in BMD patients. In addition to a comprehensive assessment of muscular phenotypes that takes into account consequences of mutations on the expression of the dystrophin mRNA and protein, we provide and discuss genomic, mRNA, and protein data that pinpoint molecular mechanisms underlying BMD phenotypes associated with nonsense and frameshift mutations. Hum Mutat 28(2), 183,195, 2007. © 2006 Wiley-Liss, Inc. [source] Diagnosis and Management of Renovascular Disease and Renovascular HypertensionJOURNAL OF CLINICAL HYPERTENSION, Issue 5 2007Michael J. Bloch MD Renovascular disease is a common but complex disorder, the most common causes of which are fibromuscular dysplasia and atherosclerosis. Clinically, it can present as asymptomatic renal artery stenosis, renovascular hypertension, or ischemic nephropathy. Assessing the clinical index of suspicion remains essential in determining an appropriate diagnostic strategy. For diagnosis in patients with suspected fibromuscular disease, it may be reasonable to proceed directly to renal angiography; however, for most patients with suspected atherosclerotic disease, there are a number of noninvasive tests available that can aid in decision making. The choice of the most appropriate initial test should be based on patient characteristics, clinical presentation, and local expertise. Treatment options include medical, surgical, or percutaneous approaches. Generally, in patients with fibromuscular disease, percutaneous intervention provides durable improvement or cure of hypertension. In patients with atherosclerotic disease, the data are less consistent, and there does appear to be a group of patients who will respond well to medical management alone. As technology advances, the diagnostic and treatment paradigms will continue to evolve. [source] An alternative diagnostic strategy in young women with suspected pulmonary embolismJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 4 2009R. A. DOUMA [source] Management studies using a combination of D-dimer test result and clinical probability to rule out venous thromboembolism: a systematic reviewJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 11 2005A. J. TEN CATE-HOEK Summary.,Background:,While the number of patients with suspected venous thromboembolism (VTE) referred to hospital emergency units increases, the proportion in whom the diagnosis can be confirmed is decreasing. A more efficient but safe diagnostic strategy is needed. Objective:,To evaluate the safety of withholding anticoagulant therapy in patients suspected of VTE based on a diagnostic work-up that combines a clinical decision rule (CDR) with a D-dimer test result without performing additional diagnostic tests. Patients/methods:,We searched Medline (January 1996,December 2004)-related articles and reference lists of studies in English for prospective clinical studies that managed consecutive patients suspected of VTE and used a D-dimer assay combined with an explicit CDR or implicit clinical judgment. Results:,We identified 11 studies in which 6837 consecutive outpatients suspected of VTE were included. In the combined management studies, the overall rate of thromboembolic events was nine out of 2056 patients (0.44 %, 95% CI 0.2%,0.83%) in whom anticoagulants were withheld based on the D-dimer result and a low clinical score. Similar results were obtained with qualitative and quantitative D-dimer tests and with different decision rules. The rate of exclusion varied between 30% and 50% and was highest with a low incidence of VTE among those referred. Conclusion:,Withholding anticoagulant treatment in patients suspected of VTE on the basis of a work-up consisting of a low clinical probability combined with either a qualitative or quantitative D-dimer test result is safe. [source] Use of serum biomarkers in a diagnostic test for irritable bowel syndromeALIMENTARY PHARMACOLOGY & THERAPEUTICS, Issue 8 2009A. J. LEMBO Summary Background Currently, no single serum biomarker can reliably differentiate irritable bowel syndrome (IBS) from other functional gastrointestinal disorders or organic diseases of the gastrointestinal tract. Aim To develop and validate a diagnostic test using serum biomarkers to detect IBS. Methods Ten serum biomarkers were selected from a potential panel of 140 for their ability to differentiate IBS from non-IBS disease in blood samples from patients with IBS, other gastrointestinal disorders and healthy volunteers. A predictive modelling tool was developed to assess patterns and relationships among the 10 serum biomarkers that best differentiated IBS patients from healthy controls and patients with non-IBS gastrointestinal disease. This model was tested in a different cohort of patients and healthy controls (n = 516) to determine the predictive accuracy of differentiating IBS from non-IBS. Results The sensitivity and specificity of the 10-biomarker algorithm for differentiating IBS from non-IBS was 50% and 88% respectively. The positive predictive value was 81%, and the negative predictive value was 64% at 50% IBS prevalence in the validation cohort. Overall accuracy was 70%. Conclusions Assessing serum biomarker patterns can differentiate IBS from non-IBS with reasonable sensitivity and specificity. Assessing serum biomarkers in an overall diagnostic strategy may allow earlier diagnosis and treatment for patients with IBS. [source] Utility of Noninvasive, Mobile, Continuous Outpatient Rhythm Monitoring to Diagnose Seizure-Related ArrhythmiasPACING AND CLINICAL ELECTROPHYSIOLOGY, Issue 7 2009KEVIN DRIVER M.D. The identification of patients with a diagnosis of seizure disorder who are also at risk for clinically significant bradycardia and/or tachycardia may require long-term cardiac rhythm monitoring. Noninvasive, continuous, outpatient cardiac rhythm monitoring may be useful for such clinical scenarios. The study group consisted of two male patients with a history of seizure disorder involving loss of consciousness. Clinical data and results of electrocardiography, echocardiography, electroencephelography, and continuous, mobile, outpatient cardiac rhythm monitoring are described. In the first patient, while cardiac bradyarrhythmias were secondary to seizures, sinus arrest most likely complicated the episodes by leading to more prolonged states of unconsciousness. In the second patient, permanent pacemaker implantation for AV block averted all clinical events previously attributed to seizures. Despite the different causal relationships between seizures and bradyarrhythmias in these two patients, mobile, cardiac outpatient telemetry was successful in diagnosing the contribution of cardiac dysrhythmia, leading to permanent pacemaker implantation. A diagnostic strategy that incorporates mobile, noninvasive, continuous, outpatient cardiac rhythm monitoring can effectively be utilized to diagnose significant seizure-related arrhythmias. [source] Diagnostic approaches for immunocompromised paediatric patients with pulmonary infiltratesCLINICAL MICROBIOLOGY AND INFECTION, Issue 3 2006K. Bochennek Abstract Pulmonary infiltrates in immunocompromised children often pose problems in terms of deciding on further diagnostic and therapeutic procedures, but few studies have evaluated the value of non-invasive and invasive diagnostic methods in paediatric populations. Both galactomannan ELISA and PCR protocols appear to be less useful in children than in adults. Invasive procedures, such as bronchoalveolar lavage or lung biopsy, can yield a pathohistological diagnosis and/or the isolation of a pathogen. Prospective studies in paediatric patients are needed urgently to assess the value of different diagnostic procedures and to define an effective and safe diagnostic strategy for the individual child. [source] | |||||||||||||||||||||||||