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Diagnostic Workup (diagnostic + workup)
Selected AbstractsParietal Lobe Epilepsy: The Semiology, Yield of Diagnostic Workup, and Surgical OutcomeEPILEPSIA, Issue 6 2004Dong Wook Kim Summary: Purpose: To characterize the clinical features, the prognostic value, and diagnostic sensitivities of various presurgical evaluations and the surgical outcomes in parietal lobe epilepsy (PLE), we describe 40 patients who were diagnosed as having PLE, including 27 surgically treated patients. Methods: The diagnosis was established by means of a standard presurgical evaluation, including magnetic resonance imaging (MRI), fluorodeoxyglucose,positron emission tomography (FDG-PET), ictal single-photon emission tomography (SPECT), and scalp video-electroencephalography (EEG) monitoring, with additional intracranial EEG monitoring in selected cases. Results: Among the 40 patients, 27 experienced at least one type of aura. The most common auras were somatosensory (13 patients), followed by affective, vertiginous, and visual auras. The patients had diverse manifestations. Eighteen patients showed simple motor seizure, followed by automotor seizure, and dialeptic seizure. Two patients manifested generalized tonic,clonic seizures only, and 19 patients experienced more than one type of seizure. The surgical outcome was favorable in 22 of 26 patients including 14 who were seizure free. Patients with localized MRI abnormality had a higher probability to be seizure free, with marginal significance (p = 0.062), whereas other diagnostic modalities failed to predict the surgical outcome. In the seizure-free group, localization sensitivity was 64.3% by MRI, 50% by PET, 45.5% by ictal SPECT, and 35.7% by ictal EEG. The concordance rate of the various diagnostic modalities was higher in the seizure-free group than in the non,seizure-free group, although it did not reach statistical significance. Conclusions: Seizures, in the case of PLE, can manifest themselves in a wider variety of ways than was previously thought. Surgical outcome was favorable in most of the patients. MRI abnormality and concordance of different diagnostic modalities were associated with high seizure-free rate. [source] Resource Use and Cost of Diagnostic Workup of Women with Suspected Breast CancerTHE BREAST JOURNAL, Issue 1 2009David W. Lee PhD Abstract:, We estimated resource use and costs associated with a diagnostic workup for suspected breast cancer among Medicare beneficiaries. Using Medicare claims data, we found that the average cost of a diagnostic workup for suspected breast cancer,whether it eventuated in a breast cancer diagnosis or not,was $361, and did not vary by presentation (signs/symptoms or screening mammography). In the aggregate, we estimate that Medicare spends approximately $679 million annually on diagnostic workups for women with suspected breast cancer, and that false positive mammograms result in diagnostic costs of approximately $250 million. [source] HBME-1 and CK19 are highly discriminatory in the cytological diagnosis of papillary thyroid carcinomaDIAGNOSTIC CYTOPATHOLOGY, Issue 8 2008FRCPA, Min-En Nga MRCPath Abstract The cytologic diagnosis of papillary thyroid carcinoma is straightforward in most instances. However, there are some mimics including goitrous nodules and Hurthle cell neoplasms. Many studies have shown the combination of HBME-1 and CK19 expression to be useful in reaching a correct histologic diagnosis on tissue sections. We aim to assess the value of these markers in the setting of cell blocks prepared from needle aspiration specimens. We performed immunohistochemical staining of HBME-1 and CK19 on cell block material from 22 thyroid nodules that also had follow-up histology. Both CK19 and HBME-1 were strongly positive in all nine cases of papillary thyroid carcinoma, the latter showing distinct luminal accentuation. In the non-papillary carcinomas, none showed positivity for both HBME-1 and CK19. Two of six Hurthle cell neoplasms were positive for CK19, however all were negative for HBME-1. One of nine goitrous nodules was strongly positive for HBME-1 with luminal/membranous staining, but this were negative for CK19. The sensitivity, specificity and positive predictive value of HBME-1 in distinguishing between papillary thyroid carcinoma and goitrous nodules/Hurthle cell neoplasms were found to be 100%, 92.9% and 0.9, respectively; and that of HBME-1 and CK19 combination was 100%, 100% and 1. We thus conclude that the combination of positive HBME-1 (luminal/membranous) and CK 19 (cytoplasmic) staining on cell blocks of thyroid cytologic specimens is highly discriminatory in the diagnostic workup for papillary thyroid carcinoma. Diagn. Cytopathol. 2008; 36: 550,556. © 2008 Wiley-Liss, Inc. [source] Infarcted intraductal papilloma of the breast: Cytologic features with stage of infarctionDIAGNOSTIC CYTOPATHOLOGY, Issue 5 2006Akinori Ishihara M.D., F.I.A.C., Ph.D. Abstract Fine-needle aspiration cytology (FNAC) is being employed with increasing frequency for the pre-operative diagnostic workup of breast lesions. Although most cases show morphologic features very characteristic of specific entities, rare lesions with infarcted breast can cause problems in interpretation. We present cytologic findings in seven cases of an infarcted intraductal papilloma of the breast (IDPB) that was diagnosed by FNAC, and we also report the correlation of cytological features and stages of infarcted IDPB. In the early stage of infarction, numerous degenerative cells and necrotic debris were demonstrated. Isolated degenerative cells showed columnar, spindle, polygonal and fiber-like cells, with coagulated and smudged nuclei. Ghost cells were also seen. Extensive necrosis was demonstrated with a few sheets of ductal cells in the mid-stage of infarction. In the late stage of infarction, clusters of fibroblasts, ductal cells and necrotic debris were found. Knowledge of the characteristic cytologic pattern in different stages of infarcted IDPB may be helpful to suggest the probable pre-operative diagnosis of those lesions. Familiarity with this entity is important in preventing misdiagnosis of malignancy. Diagn. Cytopathol. 2006;34:373,376. © 2006 Wiley-Liss, Inc. [source] Can Computed Tomography Angiography of the Brain Replace Lumbar Puncture in the Evaluation of Acute-onset Headache After a Negative Noncontrast Cranial Computed Tomography Scan?ACADEMIC EMERGENCY MEDICINE, Issue 4 2010Robert F. McCormack MD Abstract Objectives:, The primary goal of evaluation for acute-onset headache is to exclude aneurysmal subarachnoid hemorrhage (SAH). Noncontrast cranial computed tomography (CT), followed by lumbar puncture (LP) if the CT is negative, is the current standard of care. Computed tomography angiography (CTA) of the brain has become more available and more sensitive for the detection of cerebral aneurysms. This study addresses the role of CT/CTA versus CT/LP in the diagnostic workup of acute-onset headache. Methods:, This article reviews the recent literature for the prevalence of SAH in emergency department (ED) headache patients, the sensitivity of CT for diagnosing acute SAH, and the sensitivity and specificity of CTA for cerebral aneurysms. An equivalence study comparing CT/LP and CT/CTA would require 3,000 + subjects. As an alternative, the authors constructed a mathematical probability model to determine the posttest probability of excluding aneurysmal or arterial venous malformation (AVM) SAH with a CT/CTA strategy. Results:, SAH prevalence in ED headache patients was conservatively estimated at 15%. Representative studies reported CT sensitivity for SAH to be 91% (95% confidence interval [CI] = 82% to 97%) and sensitivity of CTA for aneurysm to be 97.9% (95% CI = 88.9% to 99.9%). Based on these data, the posttest probability of excluding aneurysmal SAH after a negative CT/CTA was 99.43% (95% CI = 98.86% to 99.81%). Conclusions:, CT followed by CTA can exclude SAH with a greater than 99% posttest probability. In ED patients complaining of acute-onset headache without significant SAH risk factors, CT/CTA may offer a less invasive and more specific diagnostic paradigm. If one chooses to offer LP after CT/CTA, informed consent for LP should put the pretest risk of a missed aneurysmal SAH at less than 1%. ACADEMIC EMERGENCY MEDICINE 2010; 17:444,451 © 2010 by the Society for Academic Emergency Medicine [source] Value of 18F-FDG-PET/CT in patients with fever of unknown origin and unexplained prolonged inflammatory syndrome: a single centre analysis experienceINTERNATIONAL JOURNAL OF CLINICAL PRACTICE, Issue 1 2010L. Federici Summary Objective:, The aim of our study was to evaluate the diagnostic contribution of 18F-fluoro-deoxyglucose (18F-FDG)-positron emission tomography (PET)/computed tomography (CT) in patients with fever of unknown origin (FUO) or unexplained prolonged inflammatory syndrome (UPIS) in real life. Patients and methods:, We performed a retrospective study including 14 patients with FUO or UPIS hospitalised in our institution (Strasbourg University Hospital, France) between January 2005 and July 2006. 18F-FDG-PET/CT was considered helpful when abnormal results allowed an accurate diagnosis. Results:,18F-FDG-PET/CT was helpful in half the patients (7/14) for final diagnosis. A diagnosis was reached in 87.5% of the patients (7/8) with an abnormal 18F-FDG-PET/CT but only in 50% of the patients (3/6) with a normal 18F-FDG-PET/CT. Conventional chest and abdominal CT was performed in 13 patients before ordering 18F-FDG-PET/CT. We considered that 18F-FDG-PET/CT was essential to establish the final diagnosis in only 23% of the patients (3/13) since neither chest nor abdominal CT identified abnormalities consistent with the final diagnosis. However, among the three patients, two were diagnosed with large vessel vasculitis and one patient with local prosthetic infection. Conclusions:, Our study supports the potential interest of 18F-FDG-PET/CT in the diagnostic workup of FUO and UPIS as it helped establish a fine diagnosis in half of the cases. However, 18F-FDG-PET/CT appeared to be essential to the final diagnosis in only 23% of the cases. In our opinion, this protocol should be performed as a second level test, especially when conventional CT is normal or is unable to discriminate between active and silent lesions. [source] Eleven-Year Experience in Diagnosis and Surgical Therapy of Right Atrial MassesJOURNAL OF CARDIAC SURGERY, Issue 1 2007Nezihi Kucukarslan M.D. A review of surgical experience with right atrial tumors in 11 patients from our institution has been presented in this article. Methods: Eleven cases, operated for a tumor mass in the right atrium in our institution between January 1993 and December 2004, were retrospectively reviewed for their clinical presentation, diagnostic workup, method of surgical procedure, and histopathologic findings. Electrocardiogram, transthoracic, and transesophageal echocardiography, computerized tomography, and nuclear magnetic resonance imaging were available for all patients during the diagnostic evaluation. Surgical procedure notes, photos, and file recordings were reviewed when available. The surgeons were also interviewed when necessary. Results: Right atrial tumors were diagnosed in 11 patients (6 males and 5 females). The average age of the patients was 34 ± 11 years (ranging between 21 and 65 years). The histopathological examination of the surgically removed specimen revealed a benign tumor in eight patients (73%), and a malignant process in three (23%). In eight patients with a benign tumor, atrial myxoma was the leading cause in half of the cases. Hydatid cyst (n = 2), lipoma (n = 1), and right atrial thrombus (n = 1) were detected in the remaining four patients. One patient died of heart failure after surgery. The diameters of the excised masses were 2 ± 0.5 cm versus 7 ± 1 cm. Conclusions: Tumors of the right atrium are rarely seen, and necessitate a unique attention during the process of diagnosis and surgical treatment. We present our surgical experience of 11 patients with right atrial mass. The differentiation of the right atrial tumors with the diagnostic tools before surgery, the determination of the spreading, and the structural properties of the mass may designate surgical approach and prognosis. [source] Sonographic findings of mesenteric panniculitis: Correlation with CT and literature reviewJOURNAL OF CLINICAL ULTRASOUND, Issue 4 2006Nuria Rosón MD Abstract Purpose. To evaluate the sonographic findings of mesenteric panniculitis (MP) and correlate them with CT findings. Methods. We retrospectively evaluated the clinical, CT, and sonographic findings in 26 cases of MP in our hospital between January 1997 and July 2003. We also reviewed the sonographic features of MP previously described in the literature. Results. The sonographic findings were well correlated to CT in 24 of 26 patients (92%). In these 24 cases, abdominal sonographic examination revealed a hyperechogenic, well-defined fatty mass (corresponding to the pseudocapsule CT sign) in the root of the mesentery, displacing the bowel loops. We found a clear interface between MP and normal intra abdominal fat. Examination with color Doppler sonography revealed the nondeviated mesenteric vessels within the mass. The persence of MP improved sonographic transmission in 9 obese patients and enabled the retroperitoneal vessels to be clearly visualized. Sonography was unable to demonstrate the preservation of the fat nearest the mesenteric vessels corresponding to the "fatty halo" sign on CT. Conclusions. Sonography is useful in the diagnostic workup for MP. The characteristic sonographic features of MP (well-defined mass, homogeneous hyperechogenicity of the mass, nondeviated vessels within the mass, and displaced bowel loops) correlate well with CT findings. © 2006 Wiley Periodicals, Inc. J Clin Ultrasound 34:169,176, 2006 [source] Magnetic resonance techniques for the in vivo assessment of multiple sclerosis pathology: Consensus report of the white matter study groupJOURNAL OF MAGNETIC RESONANCE IMAGING, Issue 6 2005Massimo Filippi MD Abstract On October 9,11, 2003, the third meeting of the White Matter Study Group of the International Society for Magnetic Resonance in Medicine was held in Venice, Italy. This article is the report of the meeting on how to use MRI in the diagnostic workup of multiple sclerosis (MS) and allied white matter disorders, and to define the nature and the extent of MS pathology in vivo. Both of these steps are central to the design of future treatment strategies aimed at limiting the functional consequences of the most disabling aspects of this disease. J. Magn. Reson. Imaging 2005;21:669,675. © 2005 Wiley-Liss, Inc. [source] Echocardiographic Findings of Patients With Retinal Ischemia or EmbolismJOURNAL OF NEUROIMAGING, Issue 3 2002Mikael Mouradian MD ABSTRACT Background and Purpose. A potential source of emboli is not detected in more than 50% of patients with retinal arterial occlusive events. Echocardiographic studies are not always included in the diagnostic workup of these patients. The authors studied the diagnostic yield of transthoracic (TTE) and/or transesophageal (TEE) echocardiography in identifying potential sources of emboli in patients with retinal ischemia or embolism. Methods. In a prospective study, 73 consecutive patients with clinically diagnosed retinal ischemia or embolism received a standardized diagnostic workup including retinal photography, echocardiography, and imaging studies of the internal carotid arteries. TTE was performed in 83.6% of patients, TEE was performed in 5.5% of patients, and both TTE and TEE were per-formed in 11.0% of patients. Ophthalmological diagnoses consisted of amaurosis fugax (n= 28), asymptomatic cholesterol embolism to the retina (n= 34), and branch or central retinal artery occlusion (n= 11). Results. Echocardiography identified a potential cardiac or proximal aortic source for embolism in 16 of 73 (21.9%) patients, including 8 who also had either atrial fibrillation or internal carotid artery stenosis of more than 50% on the side of interest. Thus, 8 of 73 (11.0%) patients had lesions detected only by echocardiography. The most commonly identified lesions were proximal aortic plaque of more than 4 mm thickness (n= 7, 9.6%) and left ventricular ejection fraction of less than 30% (n= 6, 8.2%). TEE was particularly helpful in identifying prominent aortic plaques. Conclusion. Echocardiography frequently identifies lesions of the heart or aortic arch that can act as potential sources for retinal ischemia or embolism. Further studies are needed to evaluate the prognostic and therapeutic relevance of these findings. [source] Sarcoidosis of the skin , A dermatological puzzle: important differential diagnostic aspects and guidelines for clinical and histopathological recognitionJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 2 2010G Tchernev Abstract Sarcoidosis of the skin may have an extremely heterogeneous clinical presentation, so that the definitions of ,great imitator' and ,clinical chameleon' have long been used. There is, in fact, a large group of skin diseases that can enter the differential diagnosis with cutaneous sarcoid manifestations, either clinically or/and pathologically. As the clinical consequences and the prognosis of these groups of diseases are often very different, it is important to correctly plan the diagnostic workup. The diagnostic process in this case often presents a challenge as no single test is sufficiently specific, so that a certain diagnosis can be only made in the presence of a compatible clinical and radiographic picture, along with histopathological evidence of non-necrotizing, epithelioid cell granulomas, and exclusion of other potential aetiologies. For practical reasons, four main groups of skin conditions capable of mimicking sarcoidosis can be identified: (i) transmissible, infectious diseases; (ii) allergic and immunological manifestations of various aetiologies; (iii) granulomatous diseases of various aetiologies; and (iv) lymphomas and pseudolymphomas. The aim of this article is to describe the main clinical and histopathological findings of such disease entities, and to discuss the role of those features (morphological, pathological and laboratory) that can help distinguish them from sarcoidosis of the skin. [source] Needle-tract implantation from hepatocellular cancer: Is needle biopsy of the liver always necessary?LIVER TRANSPLANTATION, Issue 1 2000Ryan Takamori Percutaneous needle biopsies are frequently used to evaluate focal lesions of the liver. Needle-tract implantation of hepatocellular cancer has been described in case reports, but the true risk for this problem has not been clearly defined. We retrospectively reviewed 91 cases of hepatocellular cancer during a 4-year period from 1994 to 1997. Data on diagnostic studies, therapy, and outcome were noted. Of 91 patients with hepatocellular cancer, 59 patients underwent percutaneous needle biopsy as part of their diagnostic workup for a liver mass. Three patients (5.1%) were identified with needle-tract implantation of tumor. Two patients required en bloc chest wall resections for implantation of hepatocellular cancer in the soft tissues and rib area. The third patient, who also received percutaneous ethanol injection of his tumor, required a thoracotomy and lung resection for implanted hepatocellular cancer. Percutaneous needle biopsy of suspicious hepatic lesions should not be performed indiscriminately because there is a significant risk for needle-tract implantation. These biopsies should be reserved for those lesions in which no definitive surgical intervention is planned and pathological confirmation is necessary for a nonsurgical therapy. (Liver Transpl 2000;6:67-72.) [source] Low prevalence of the intrinsic form of atopic dermatitis among adult patientsALLERGY, Issue 5 2006R. Fölster-Holst Background:, Atopic dermatitis (AD) is a chronic inflammatory skin disease commonly associated with respiratory allergies such as rhinitis and asthma, and a high serum level of IgE. In contrast to the ,classic' IgE-mediated allergic (extrinsic) form of AD, approximately 20% of the patients are reported to show normal IgE levels, lack of sensitizations towards environmental allergens, and absence of associated respiratory allergies. Accordingly, these patients are assigned to a nonallergic (intrinsic) form of the disease. Objectives:, In order to define these two forms of AD more closely, 259 adult patients with AD were investigated. Results:, After a thorough diagnostic workup there were 18 patients (6.9%), who fulfilled the criteria of intrinsic AD. After follow-up, four additional patients had developed respiratory allergies or IgE-mediated sensitizations resulting in an overall proportion for intrinsic AD of 5.4%. Conclusions:, Based on these figures the nature and relevance of the intrinsic form of AD deserves further evaluation. [source] Subacute axonal neuropathy in Parkinson's disease with cobalamin and vitamin B6 deficiency under duodopa therapyMOVEMENT DISORDERS, Issue 11 2010Peter P. Urban MD Abstract We describe two patients who developed subacute axonal peripheral neuropathy under duodopa treatment. Comprehensive diagnostic workup including muscle and sural nerve biopsy revealed that the most probable cause of subacute axonal peripheral neuropathy was cobalaminand vitamin B6 deficiency in both the patients. © 2010 Movement Disorder Society [source] Catamenial hemoptysis from endobronchial endometriosis in a child with type 1 von Willebrand diseasePEDIATRIC PULMONOLOGY, Issue 4 2007Baldassarre Martire MD Abstract Catamenial hemoptysis is a rare condition characterized by cyclic pulmonary hemorrhage, synchronous with menses and associated with the presence of intrapulmonary or endobronchial endometrial tissue. Because of the paucity of cases reported in the literature, information regarding the natural history is limited and also the optimal diagnostic workup and management of these patients are not well defined. In this report, we present a case of endobronchial endometriosis in a 12-year-old female diagnosed by bronchoscopy and immunocytochemical assay, associated with type 1 von Willebrand disease. Pediatr Pulmonol. 2007; 42:386,388. © 2007 Wiley-Liss, Inc. [source] Historical perspective and clinical implications of the Pelger-Huet cell,AMERICAN JOURNAL OF HEMATOLOGY, Issue 2 2009John M. Cunningham The unique historical aspects of Pelger and Huet's discovery of the Pelger-Huet cell highlight the diagnostic challenge that this morphologic finding presents to the physician. Making the diagnosis of the benign autosomal dominant anomaly is complicated by the morphologically similar pseudo-Pelger-Huet cell, which can signify underlying myeloid dsyplasia. This article relates the history of the Pelger-Huet anomaly as well as describes the clinical significance and diagnostic workup for the finding of a Pelger-Huet cell on peripheral smear. Am. J. Hematol., 2009. © 2008 Wiley-Liss, Inc. [source] Resource Use and Cost of Diagnostic Workup of Women with Suspected Breast CancerTHE BREAST JOURNAL, Issue 1 2009David W. Lee PhD Abstract:, We estimated resource use and costs associated with a diagnostic workup for suspected breast cancer among Medicare beneficiaries. Using Medicare claims data, we found that the average cost of a diagnostic workup for suspected breast cancer,whether it eventuated in a breast cancer diagnosis or not,was $361, and did not vary by presentation (signs/symptoms or screening mammography). In the aggregate, we estimate that Medicare spends approximately $679 million annually on diagnostic workups for women with suspected breast cancer, and that false positive mammograms result in diagnostic costs of approximately $250 million. [source] Cervical thymic anomalies,The Texas Children's Hospital experienceTHE LARYNGOSCOPE, Issue 10 2009Angela K. Sturm-O'Brien MD Abstract Objectives/Hypothesis: To review the presentation and management of cervical thymic cysts and ectopic thymic tissue at Texas Children's Hospital over the last 25 years. Study Design: Case report and case series using retrospective chart review. Methods: A case report is presented of a recently diagnosed thymic cyst highlighting diagnostic, management, and treatment strategies available for optimizing management of patients with significant mediastinal extension. We then present a retrospective review of cervical thymic anomalies at a tertiary academic medical center over a 25-year span (1983,present). Data extracted include patients' characteristics, clinical presentation, diagnostic workup, surgical management, and postoperative complications. Results: Fifteen patients were found to have a pathological diagnosis of cervical thymic cyst, and 10 patients had a diagnosis of ectopic thymic tissue in the neck. This is the largest case series of cervical thymic anomalies presented in the literature to date. Patients' characteristics, diagnostic techniques, and treatment strategies are discussed. Conclusions: Cervical thymic anomalies are a rare but necessary part of the differential diagnosis of a cervical mass. Computed tomography scan can both narrow the preoperative differential diagnosis and aid in surgical planning for thymic cyst excision. A full discussion of the embryology, clinical presentation, and management of cervical thymic cysts and a review of the current literature is presented. Laryngoscope, 2009 [source] Controversies in the Management of Thyroid NoduleTHE LARYNGOSCOPE, Issue 2 2000Ashok R. Shaha MD Abstract Few subjects in surgery have generated as much controversy as the management of thyroid nodule. The controversial issues include classification and histology, diagnostic evaluation including needle biopsy, indications for surgery, management of incidentalomas of the thyroid, the role of frozen section, extent of thyroidectomy, management of neck nodes, the role of suppressive therapy, the use of radioactive iodine, and appropriate follow-up. The two major issues in relation to the controversies are diagnostic workup and extent of thyroidectomy. Whenever the issue related to extent of thyroidectomy is discussed, there are two strong groups believing in total thyroidectomy or less than total thyroidectomy. This has generated considerable debate and panel discussions, and this article reviews this on-going debate. [source] Muscle Nogo-a expression is a prognostic marker in lower motor neuron syndromesANNALS OF NEUROLOGY, Issue 1 2007Pierre-François Pradat MD Objective A proportion of patients with pure lower motor neuron syndrome (LMNS) progress to amyotrophic lateral sclerosis (ALS). Early detection of this progression is impossible, which delays the patient's access to treatment. Muscle expression of Nogo-A is a new candidate marker of ALS. We tested whether detection of Nogo-A in a muscle biopsy from patients with LMNS predicts progression to ALS. Methods Thirty-three patients who had undergone a muscle biopsy during the diagnostic workup of spinal LMNS were observed for 12 months. Nogo-A expression was measured by Western blot in muscle biopsy samples and compared with the final diagnosis. Results Nogo-A expression was detected in 17 patients and was absent in 16 patients. The detection of Nogo-A in muscle biopsy samples from LMNS patients correctly identified patients who further progressed to ALS with 91% accuracy, 94% sensitivity, and 88% specificity. In patients who later developed typical ALS, Nogo-A may be detected as early as 3 months after the onset of symptoms. Interpretation Nogo-A test is able to identify ALS early in the course of the disease when diagnosis is difficult, requiring further progression. Use of the test in clinical practice may shorten the delay before introduction of neuroprotective drugs or inclusion in clinical trials. Ann Neurol 2007 [source] The impact of cytomorphology, cytogenetics, molecular genetics, and immunophenotyping in a comprehensive diagnostic workup of myelodysplastic syndromesCANCER, Issue 19 2009Ulrike Bacher MD Abstract BACKGROUND: Because of limited reproducibility of morphologic features, the morphological categorization of initial myelodysplastic syndromes (MDS) cases remains a major task in a diagnostic setting. METHODS: To further evaluate the role of additional diagnostic methods for suspected early MDS, the authors analyzed 1965 cases with unclear cytopenia where at least cytomorphology and immunophenotyping were performed in parallel, combined with cytogenetics and molecular genetics. RESULTS: In 353 patients, both methods diagnosed malignant/nonmalignant disease other than MDS, and 557 patients had MDS-refractory anemia with excess of blasts/chronic myelomonocytic leukemia. The remaining 1055 patients (53.7%), where early MDS/reactive cytopenia had to be assumed, were categorized into 6 groups depending on cytomorphology/immunophenotyping results for or against MDS. In 659 of 1055 cases (62.4%) with suspected initial MDS, cytomorphology and immunophenotyping were concordant in the categorization of MDS/non-MDS. Cytogenetics, available in 951 of 1055 patients, revealed the highest frequency of aberrant karyotypes when both cytomorphology and immunophenotyping proposed MDS (63 of 227; 27.8%). But also in the groups where either cytomorphology or immunophenotyping showed evidence of MDS, aberrant karyotypes were found in 6% to 14% of patients. Even when both morphology and immunophenotyping showed no MDS, 11 of 208 (5.3%) had cytogenetic aberrations. RUNX1/AML1 mutation screening was positive in 15% in the latter group. NRAS, MLL -PTD, NPM1, and JAK2V617F were detected in low frequencies, confirming MDS diagnosis in the respective cases. CONCLUSIONS: This report outlines the power of a combined diagnostic approach for suspected initial cases of MDS including immunophenotyping, cytogenetics, and molecular genetics with selected markers in addition to cytomorphology. Diagnostic algorithms should be developed, and immunophenotyping should be further validated for this specific indication. Cancer 2009. © 2009 American Cancer Society. [source] Evaluation of faecal calprotectin as a valuable non-invasive marker in distinguishing gut pathogens in young children with acute gastroenteritisACTA PAEDIATRICA, Issue 9 2010Josef Sıkora Abstract Aim:, The aim of the study is to evaluate faecal calprotectin (f-CP) in children ,3 years of age with acute gastroenteritis (AG) as an early predictor of bacterial inflammation. Methods:, We prospectively analysed f-CP levels and diagnostic workup in 107 consecutive children (66 AG, 41 controls). Results:, Children with bacterial AG (BAG) was found to have higher diarrheal frequency (p < 0.01), fever (p < 0.01), erythrocyte sedimentation rate (p < 0.001), white blood count (p < 0.01) and C-reactive protein (CRP) (p < 0.001) compared with viral AG (VAG). Vomiting was frequent in VAG (p < 0.001). f-CP negatively correlated with age in controls (r = ,0.5998). BAG demonstrated significantly higher f-CP levels [median, 219 ,g/g, interquartile range (IQR): 119,350.2] compared with VAG (49.3 ,g/g, IQR: 8.8,131.1) as well as controls (26.5 ,g/g, IQR: 14.9,55.1) (p < 0.001). VAG and control f-CP levels were similar. f-CP was the best-rated marker of BAG with a diagnostic accuracy of 92%. Receiver,operator characteristic analysis revealed an area under curve of 0.95 for identifying BAG; sensitivity and specificity of f-CP were 93% and 88%, respectively, at an adjusted cut-off point of 103.9 ,g/g faeces. Combined f-CP and CRP yield improved diagnostic accuracy of 94% for BAG. Conclusion:, f-CP facilitates early discrimination between bacterial and viral causes of AG in young children. Combining f-CP with CRP increases the diagnostic power of diagnosing BAG. [source] Aetiologic and clinical characteristics of syncope in Chinese childrenACTA PAEDIATRICA, Issue 10 2007Li Chen Abstract Aim: This study aimed to improve diagnostic efficacy of syncope in children by analyzing the aetiology and clinical characteristics of syncope in Chinese children. Methods: We retrospectively analyzed the causes of syncope and diagnostic workup in 154 consecutive children seen in the Department of Pediatrics, Peking University First Hospital, China, because of a syncope-related event. Results: In all patients with transient loss of consciousness (TLOC), there were 136 (88.31%) patients attributing to syncope, and 18 (11.69%) belonging to nonsyncopal cases. Neurally mediated syncope (NMS) was the most common cause of syncope (99 cases; 64.3%), with cardiac causes ranking second (10 cases; 6.5%). Other nonsyncopal causes included psychiatric problems and neurological and metabolic disorders. In 25 cases (16.2%), the cause was uncertain. Cases of NMS often had clear inducement of syncope and prodromes. Children with cardiac syncope often had a history of cardiac disease, were often younger than those with NMS, and showed exercise-related syncope, syncope spells in any body position or at an early age, or sudden death in family members but no prodromes. Neurological disorder was suspected in cases of TLOC with seizures, TLOC spells in any position, postictal phase of disorientation or abnormal neurological signs. A metabolic cause is suspected with a history of metabolic disease, prolonged anger, or violent vomiting and diarrhoea. Children with psychiatric disorders were adolescent girls, with prolonged TLOC spells, who had more frequent TLOC. Although many tests were used in diagnosis, most were not goal directed. Now, electrocardiography is recommended in almost all children with syncope. Neurological testing, including electroencephalography and computed tomography were rarely helpful unless with evidence of neurological signs and symptoms. Head-up tilt test (HUTT) was most useful in children with recurrent syncope in whom heart disease was not suspected. Conclusion: NMS was the most common cause of syncope. We recommended HUTT as the important basis of the TLOC workup. [source] The use of molecular markers of bone turnover in the management of patients with metastatic bone diseaseCLINICAL ENDOCRINOLOGY, Issue 6 2008Markus J. Seibel Summary Biochemical markers of bone turnover are widely used in clinical practice. These indices have been shown to be associated with the occurrence, prognosis and therapeutic response of malignant bone lesions. For example, markers of bone resorption are often elevated in patients with established bone metastases and while this may point to a role of these markers in the diagnostic workup of cancer patients, the available evidence does not permit any final conclusions as to the accuracy and validity of the presently used markers in the early diagnosis of bone metastases. Many bone turnover markers appear to respond to antiresorptive and antineoplastic therapies, and recent evidence from prospective trials suggests that the aim of bisphosphonate therapy should be to normalize rates of bone remodelling to optimize therapeutic and prognostic outcomes. However, it remains unknown whether the use of bone markers in the routine clinical setting has any defined beneficial effects on overall outcome in cancer patients. Clearly, bone turnover markers have insufficient diagnostic or prognostic value to be used in isolation; however, the combination of these markers with other diagnostic techniques may improve clinical assessment of patients with bone-seeking cancers. This article reviews the available evidence (as of August 2007) on the clinical use of bone turnover markers in the management of patients with metastatic bone disease. [source] Pacemaker Stored Electrograms: Teaching Us What Is Really Going On in Our PatientsPACING AND CLINICAL ELECTROPHYSIOLOGY, Issue 5 2002BERND NOWAK NOWAK, B.: Pacemaker Stored Electrograms: Teaching Us What Is Really Going On in Our Patients. Stored electrograms (EGMs), well-known diagnostic tools in implantable cardioverter defibrillators, have now been incorporated in pacemakers as well, thereby increasing their diagnostic capabilities. The clinician can detect and diagnose patient arrhythmias with EGMs and directly validate diagnostic data stored by the devices. The appropriateness of detection algorithms can also be judged. Initial experiences with pacemaker EGMs reveals their potential to detect and diagnose sensing or detection algorithm problems. These so-called "false-positive" EGMs help to optimize pacemaker programming. Date and time stamp can correlate an event to patient symptoms. Recent advances, like onset recordings and marker annotation, have further increased the effectiveness of stored EGMs. The use of patient-triggered magnet-stored EGMs facilitates diagnostic workups in symptomatic pacemaker patients and reveals nondevice related symptoms in a considerable number of cases. Stored EGMs in pacemakers will soon be a standard diagnostic tool that can illustrate what is really going on in our patients. [source] Resource Use and Cost of Diagnostic Workup of Women with Suspected Breast CancerTHE BREAST JOURNAL, Issue 1 2009David W. Lee PhD Abstract:, We estimated resource use and costs associated with a diagnostic workup for suspected breast cancer among Medicare beneficiaries. Using Medicare claims data, we found that the average cost of a diagnostic workup for suspected breast cancer,whether it eventuated in a breast cancer diagnosis or not,was $361, and did not vary by presentation (signs/symptoms or screening mammography). In the aggregate, we estimate that Medicare spends approximately $679 million annually on diagnostic workups for women with suspected breast cancer, and that false positive mammograms result in diagnostic costs of approximately $250 million. [source] | ||||||||||||||||||||||||||||