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A data mining approach to the development of a diagnostic test for male infertility.

The paper presents a database of published Y chromosome deletions and the results of analyzing the database with data mining and other heuristic techniques with the goal of developing a diagnostic test for male infertility. The database describes 382 patients for which 177 markers were tested. Two data mining techniques, clustering and decision tree induction were used, as well as a heuristic set cover algorithm. Clustering was used to group markers according to their appearance across patients, while a heuristic set covering algorithm was used to select as small a set of markers that cover as many patients with deletions as possible. This algorithm created a diagnostic set of 13 markers that cover more than 90% of the patients with deletions. Finally, decision tree induction was used to relate deletion patterns to the severity of the clinical phenotype. A decision tree induced from the data uses 5 markers, all of which are also in the diagnostic set of 13 markers, to show relations between the severity of the clinical phenotype and deletion patterns which have not been known previously.

Algorithms↗

Validation of advanced ECG diagnostic software for the detection of prior myocardial infarction by using nuclear cardiac imaging.

The investigators report the diagnostic performance of the latest version (Version 2.5) of the recently developed Cardiovise algorithm for detecting prior myocardial infarction (MI). The Cardiovise 2.5 prior MI algorithm, a component of Cardiovise Cardiac Diagnostic System (Inovise Medical, Inc, Newberg, OR), uses scalar QRS, scalar T wave, and vectorcardiographic QRS criteria for detecting, sizing, and localizing prior MI. In this study only the detection part of the algorithm's performance was evaluated, using 105 patients with and 98 patients without prior MI as indicated by the results of cardiac imaging with Sestamibi. The specificity, and sensitivity of Cardiovise 2.5 for detecting prior MI in this population of patients are 97% and 79%, respectively. The sensitivity and overall diagnostic performance of Cardiovise 2.5 was significantly better than those of a total of 6 human readers (3 cardiologists and 3 primary care physicians) and to 2 commercially available ECG diagnostic algorithms.

Algorithms↗

[On laboratory diagnostics of early alcoholism and comorbid visceropathy].

The article is dedicated to methodical approaches to revealing organopathological consequences of alcohol abuse in adolescents. The author describes laboratory criteria of pre-nosological disturbances in homeostasis which characterize functional changes in the somatic sphere and adaptation. Algorithms of biochemical diagnostics of internal diseases accompanying alcohol abuse are presented.

Adolescent↗

Non-invasive diagnostic work-up of patients with clinically suspected pulmonary embolism; results of a management study.

BACKGROUND: Clinicians often deviate from the recommended algorithm for the diagnosis of pulmonary embolism consisting of ventilation-perfusion scintigraphy and pulmonary angiography. OBJECTIVES: To assess the safety and feasibility of a diagnostic algorithm which reduces the need for lung scintigraphy and avoids the use of angiography. PATIENTS AND METHODS: Consecutive patients with a clinical suspicion of pulmonary embolism were prospectively investigated according to an algorithm in which the diagnosis of pulmonary embolism was excluded after a low clinical probability estimate and a normal d-dimer test result, a normal perfusion scintigraphy result, or a non-high probability scintigraphy result in combination with normal serial ultrasonography of the legs. In these patients anticoagulant treatment was withheld and they were followed up for 3 months to record possible thromboembolic events. During the study period, 923 consecutive patients were seen, of whom 292 were excluded because of predefined criteria. RESULTS: Of the 631 included patients, the diagnosis was refuted on the basis of a low clinical probability estimate and a normal d-dimer test result (95 patients), normal perfusion scintigraphy (161 patients) and non-high probability lung scintigraphy followed by normal serial ultrasonography (210 patients). Of these 466 patients, venous thromboembolic complications during follow-up occurred in six (complication rate 1.3%, 95% confidence interval 0.5, 2.8). The diagnostic protocol was completed in 92% of all included patients. CONCLUSION: The diagnosis of pulmonary embolism can be safely ruled out by a non-invasive algorithm consisting of d-dimer testing combined with a clinical probability estimate, lung scintigraphy, or serial ultrasonography of the legs (in case of non-diagnostic lung scintigraphy).

Algorithms↗

Application and comparison of classification algorithms for recognition of Alzheimer's disease in electrical brain activity (EEG).

The early detection of subjects with probable Alzheimer's disease (AD) is crucial for effective appliance of treatment strategies. Here we explored the ability of a multitude of linear and non-linear classification algorithms to discriminate between the electroencephalograms (EEGs) of patients with varying degree of AD and their age-matched control subjects. Absolute and relative spectral power, distribution of spectral power, and measures of spatial synchronization were calculated from recordings of resting eyes-closed continuous EEGs of 45 healthy controls, 116 patients with mild AD and 81 patients with moderate AD, recruited in two different centers (Stockholm, New York). The applied classification algorithms were: principal component linear discriminant analysis (PC LDA), partial least squares LDA (PLS LDA), principal component logistic regression (PC LR), partial least squares logistic regression (PLS LR), bagging, random forest, support vector machines (SVM) and feed-forward neural network. Based on 10-fold cross-validation runs it could be demonstrated that even tough modern computer-intensive classification algorithms such as random forests, SVM and neural networks show a slight superiority, more classical classification algorithms performed nearly equally well. Using random forests classification a considerable sensitivity of up to 85% and a specificity of 78%, respectively for the test of even only mild AD patients has been reached, whereas for the comparison of moderate AD vs. controls, using SVM and neural networks, values of 89% and 88% for sensitivity and specificity were achieved. Such a remarkable performance proves the value of these classification algorithms for clinical diagnostics.

Aged↗

[Laparoscopic choledocholithotomy. Indications and methods of completion].

Modern views on diagnostic and medical algorithm using mini-invasive technologies for complicated cholelithic disease (CHLD) were summarized. Main indications and methods of the laparoscopic choledocholithotomy completion in 71 patients with choledocholithiasis were presented. Original, elaborated in the clinic methods were presented along with conventional diagnostic methods. Introduction of the proposed diagnostic-medical complex had permitted to improve the results of planned and urgent operations for complicated CHLD.

Adult↗

A new algorithm for the quantitation of myocardial perfusion SPECT. II: validation and diagnostic yield.

UNLABELLED: This study validates a new quantitative perfusion SPECT algorithm for the assessment of myocardial perfusion. The algorithm is not based on slices and provides fully 3-dimensional sampling and analysis independent of assumptions about the geometric shape of the left ventricle. METHODS: Radiopharmaceutical- and sex-specific normal limits and thresholds for perfusion abnormality in 20 segments of the left ventricle were developed for separate, dual-isotope rest 201Tl-exercise 99mTc-sestamibi SPECT in 36 patients with <5% before-scanning likelihood of coronary artery disease (CAD) (group 1) and 159 patients with perfusion abnormalities (group 2). These thresholds were validated in 131 patients (group 3) by comparison with expert visual interpretation. Thresholds for automatic segmental scores were developed and validated for groups 2 and 3, respectively. The accuracy of CAD detection was assessed in 94 patients, who underwent coronary angiography (group 4). RESULTS: Overall sensitivity for detection of stress and rest segmental perfusion abnormality was 91% and 96%, respectively, for men and 89% and 79%, respectively, for women. Overall specificity for stress and rest was 87% and 90%, respectively, for men and 88% and 90%, respectively, for women. Agreement between automatic and visual scores was good (weighted K of 0.71 and 0.60 for stress and rest images, respectively). Sensitivity and specificity were 88% for the detection of > or =70% stenosis. For the detection of left anterior descending, left circumflex, and right coronary artery stenosis, sensitivity was 84%, 86%, and 88%, respectively, and specificity was 84%, 88%, and 81%, respectively. CONCLUSION: The new quantitative perfusion SPECT approach is highly sensitive and specific for the detection and localization of CAD, provides accurate automatic scores for the assessment of regional perfusion, and overcomes the low-specificity limitations of previous quantitative algorithms.

Algorithms↗

Tele-endoscopy: influence of data compression, bandwidth and simulated impairments on the usability of real-time digital video endoscopy transmissions for medical diagnoses.

BACKGROUND AND STUDY AIMS: Real-time digital video transmission (rtDVT) at an acceptable quality through networks has been possible for several years. This technique can be used for telemedical applications, such as tele-endoscopy. The hypotheses of the present study were that the quality of real-time DVT depends on the technical equipment used, and that the resulting image quality influences the usability of the system for diagnostic purposes. MATERIALS AND METHODS: An experimental network was established between two German referral endoscopy centers, using the Asynchronous Transfer Mode (ATM) protocol. At first, rtDVTs of routine gastrointestinal video endoscopies were transferred through the network for prospective evaluation of the feasibility of the technical equipment and its usability for diagnostic tele-endoscopy, based on the video image quality. Secondly, the image quality and usability for correct telemedical diagnosis were evaluated prospectively in a double-blind experimental setting in relation to variations in the methods of data compression used, transmission bandwidths, and simulated transmission errors. Fourteen endoscopists evaluated 27 variations of an endoscopic video sequence. RESULTS: Compression with the Moving Picture Expert Group 2 (MPEG2 [4 : 2 : 2]) standard, the ATM protocol, and a bandwidth of 40 megabits per second (Mb/s) were used successfully in 40 routine tele-endoscopies for practical evaluation. Doctors were able to handle the system with ease, and its availability was 100%. There were no detectable differences between the original video image and the transferred image, and the images were usable for diagnosis in all cases. The set-up used clinically was therefore considered to provide the optimal conditions for comparisons in the experimental part of the study. Experimentally, any technical variation was found to cause a reduction in the overall image quality and hence a reduction in diagnostic usability: compression algorithm (MPEG2 [4 : 2 : 2] vs. others: P = 0.001), bandwidth (> or = 8 vs. < 8 Mb/s: P = 0.001), and error rate (10 (-8) vs. 10 (-7): P = 0.001). CONCLUSIONS: rtDVT using MPEG2 [4 : 2 : 2] compression and a bandwidth of 40 Mb/s did not effectively differ from the original video images in routine tele-endoscopy. The qualitative requirements in diagnostic video endoscopy, however, are obviously much higher than previously assumed, since experienced endoscopists detected a loss of image quality and a reduction in diagnostic usability with any reduction in the technical specification. Modern methods of data compression, broadband networks and a network protocol with good quality-of-service guarantees are therefore prerequisites for diagnostic rtDVT.

Algorithms↗

The changing face of carotid endarterectomy.

PURPOSE: The economic milieu and improvements in care have altered the diagnostic and therapeutic algorithm of the patient with carotid stenosis. This study analyzes the efficacy and safety of these changes. METHODS: The records of patients who underwent 320 consecutive carotid endarterectomies performed by three surgeons at our institution from 1990 to 1994 were reviewed retrospectively. Use of diagnostic angiography, use of carotid duplex ultrasound, length of hospital stay, postanesthesia recovery observation, intensive care unit (ICU) observation, complications, and hospital charges were analyzed. RESULTS: The average length of hospital stay decreased from 6.18 days to 2.00 days (p < or = 0.001). The day of discharge decreased from 3.10 days to 1.24 days after surgery (p < or = 0.01). By 1993, 68% were discharged by the first day after surgery, increasing to 73% by 1994. From 1990 to 1992, average postoperative ICU observation time fluctuated between 18 and 25 hours; this time decreased to 12.2 hours by 1994. In 1993, only 12.5% of patients were admitted to the ICU, down from 94.8% in 1990; by 1994, only 7.3% were admitted to the ICU (p < or = 0.001). Postanesthesia recovery observation time decreased from 3.77 hours to 1.63 hours during this time (p < or = 0.04). With regard to preoperative diagnosis, angiography was performed in 93.1% of patients in 1990; by 1994, only 32.8% underwent this procedure (p < or = 0.0001). Average hospital charges decreased significantly (1990, $14,378; 1994, $10,436) with these modifications in patient care (p < or = 0.001). The complication rate reflected no significant changes over the course of the study. There were six incidences of cerebrovascular accident (6/320, 1.9%), including one death. There were four incidences of transient ischemic attack (4/320, 1.3%), with no significant differences noted from year to year. CONCLUSIONS: This study confirms the changing nature of carotid endarterectomy and documents that these changes have not adversely affected the safety of the operation.

Adult↗

Diagnosis and management of penetrating vascular trauma and the injured extremity.

Early diagnosis and timely treatment of extremity vascular injuries are essential if limb salvage and limb function are to be optimized. Careful and repeated clinical examination and ankle/brachial doppler indices are pivotal for early diagnosis. Routine arteriography for proximity injury is neither cost effective nor clinically indicated and minimal non-occlusive arterial injuries do not require vascular repair. An algorithm for the diagnostic evaluation and treatment of patients with penetrating extremity trauma is presented. The early diagnosis of compartment syndrome is stressed.

Algorithms↗

[The treatment of trophic ulcers of venous etiology from the standpoint of evidence-based medicine. Review of literature].

Presented herein is a review of the modern world literature devoted to the pressing problem of phlebology--the treatment of trophic ulcers. In the given review all the available data on the modern treatment methods for trophic ulcers, resting on the criteria of evidence-based medicine (EBM), are systematized. Proceeding from these data we have evaluated the efficacy and safety of different approaches to the treatment of trophic ulcers and created the diagnostic and treatment algorithm for patients suffering from the pathology in question. The literature review, resting on the general criteria of evidence-based medicine, has demonstrated that the main current trends in the management of venous ulcers are moist healing, compression therapy, and surgical treatment. However, despite this fact there is a number of unsolved problems concerned first of all with the creation of the integral diagnostic and treatment program for patients with venous ulcers, based on the significant statistical data.

Algorithms↗

Methods for evaluating the performance of diagnostic tests in the absence of a gold standard: a latent class model approach.

In many areas of medical research, 'gold standard' diagnostic tests do not exist and so evaluating the performance of standardized diagnostic criteria or algorithms is problematic. In this paper we propose an approach to evaluating the operating characteristics of diagnoses using a latent class model. By defining 'true disease' as our latent variable, we are able to estimate sensitivity, specificity and negative and positive predictive values of the diagnostic test. These methods are applied to diagnostic criteria for depression using Baltimore's Epidemiologic Catchment Area Study Wave 3 data.

Baltimore↗

[Rare pathological alterations of the upper cervical spine requiring surgical treatment].

Because of its unique anatomy, specific diseases and lesions arise in the upper cervical spine, which differ widely from the rest of the spine. During the last two decades standardised diagnostic and therapeutic algorithms have been defined for most of the craniocervical pathologies often occurring in combination with an underlying disease requiring surgical intervention as well. On the other hand there are some very rare phathological alterations: about 20% of the patients suffering from neurofibromatosis type I develop spinal deformities. These are mostly found in the thoracic and lumbar spine (dystrophic/non-dystrophic type). In rare cases the dystrophic neurofibromatosis type I involves the upper cervical spine leading to bizarre deformities endangering the spinal cord. An aggressive, timely and combined operative therapy is necessary. Patients with Down syndrome should be investigated regularly for affections of the upper cervical spine. Though only in about 1% of all patients with Down syndrome do instabilities require surgical intervention, the upper cervical spine should be screened on a regular basis, since neurological changes due to the pathognomy of the underlying disease often remain undetected for a long time. The operative therapy of the instable os odontoideum in Down syndrome follows the general principles of this pathoanatomical variation. Even though the Klippel-Feil syndrome is generally not linked with neuropathological findings, rare associated deformities of the upper cervical spine should be excluded by proper diagnostic procedures.

Adolescent↗

Fine needle aspiration of thyroid nodules. Determinants of insufficiency rate and malignancy yield at thyroidectomy.

OBJECTIVE: To evaluate patient- and practice-specific determinants of the thyroid nodule fine needle aspiration (FNA) insufficiency rate and malignancy yield at a tertiary-care teaching hospital. STUDY DESIGN: All FNAs of thyroid nodules performed from August 1990 to October 1993 at the Walter Reed Army Medical Center Endocrinology Clinic were reviewed and the results analyzed for correlation with surgical outcome, scintiscanning result and operator experience. Provider-specific factors influencing the FNA insufficiency rate, surgical referral pattern and malignancy yield were evaluated. RESULTS: A total of 504 aspirations in 422 patients with thyroid nodules were included in the analysis. The sensitivity of FNA for detecting malignancy was 80%, specificity was 73.2%, and accuracy was 75.2%. A significant negative correlation was found between recent aspirator experience and the insufficiency rate. Repeat aspiration of nodules previously yielding benign cytology increased the malignancy yield. Surgical excision of nodules with insufficient aspirations gave a low malignancy yield, and aspiration of nodules that were "hot" on scintiscanning rarely yielded false positive FNA results. CONCLUSION: Specific limitations of thyroid nodule FNA include a large number of aspirates containing insufficient cytologic material and a variable malignancy yield. Specific recommendations based on the findings in this report are: the establishment of uniform criteria for judging specimen adequacy, the performance of repeat aspiration on thyroid nodules with previously benign aspirates, the abandonment of scintiscanning in the routine management of thyroid nodules and a conservative approach to clinically indolent nodules repeatedly found to have scant cellularity on FNA. Based on these findings, an algorithm for the diagnostic evaluation of a solid thyroid nodule can be constructed.

Adolescent↗

Marrow failure.

This chapter describes the clinical presentation and molecular basis of two inherited bone marrow failure syndromes, Fanconi anemia (FA), and Diamond-Blackfan anemia (DBA). It also provides an update on diagnostic and therapeutic approaches to bone marrow failure of all types (inherited and acquired) in pediatric patients. In Section I, Dr. Alan D'Andrea reviews the wide range of clinical manifestations of Fanconi anemia. Significant advances have been made in understanding the molecular pathogenesis of FA. On the basis of these advances, new diagnostic assays and treatment options are now available. In Section II, Dr. Niklas Dahl examines the clinical features and molecular pathogenesis of Diamond-Blackfan anemia. The possible links between the RPS19 gene (DBA gene) and the erythropoiesis defect are considered. In Section III, Drs. Eva Guinan and Akiko Shimamura provide an algorithm for the diagnostic evaluation and treatment of children with inherited or acquired aplastic anemia. Through the presentation of a case study of a pediatric patient with bone marrow failure, he provides an overview of the newest tests and treatment options.

Adult↗

Clinical algorithms for the screening of Chlamydia trachomatis in Turkish women.

OBJECTIVE: To test the diagnostic validity of clinical algorithms for the detection of Chlamydia trachomatis in an urban population of married women in Turkey. DESIGN: Cross-sectional population-based survey. SUBJECTS: A systematic sample of 867 women who reported the use of contraceptive methods. MAIN OUTCOME MEASURES: Sensitivity, specificity and positive predictive value of clinical algorithms for the diagnosis of C trachomatis. RESULTS: C trachomatis was diagnosed in 4.89% of the women. The WHO algorithm for use in settings where no vaginal examination could be performed had a sensitivity of 9% and a specificity of 96%. The corresponding figures for the WHO algorithm incorporating the findings of a speculum examination were 47% and 56% respectively. Algorithms incorporating symptoms or signs other than those suggested by the WHO did not yield satisfactory standards of validity. CONCLUSIONS: The findings of this study do not support the widespread introduction of the use of clinical decision models for screening of women for chlamydia infection in primary health care settings such as family planning or antenatal clinics. The large number of false positive results with the use of the clinical algorithms tested in this study would cause unnecessary costs to the health system and unnecessary interventions to the women treated.

Adult↗

Screening for extermity arterial injury with the arterial pressure index.

Certain extremity injuries presenting to the ED or Trauma Unit warrant increased suspicion for underlying arterial trauma. Such injuries include knee dislocations, displaced medial tibial plateau fractures and other displaced bicondylar fractures around the knee, open or segmental distal femoral shaft fractures, floating joints, gunshot wounds in proximity to neurovascular structures, or mangled extremities. Once the diagnosis of arterial trauma is made, a multi-disciplinary approach is warranted. The diagnostic strategies for vascular injury have undergone an evolution over the past 2 decades. One and a half percent to 4.6% of patients hospitalized with blunt extremity trauma have associated vascular compromise [Bunt TJ, Malone JM, Moody M, et al. Am J Surg 1990;160(2):226-8; Reid JD, Weigelt JA, Thal ER, et al. Arch Surg 1988;123(8):942-6; Applebaum R, Yellin AE, Weaver FA, et al. Am J Surg 1990;160(2):221-4; discussion 224-5; Dennis JW, Frykberg ER, Veldenz HC, et al. J Trauma 1998;44(2):243-52; discussion 242-3]. An efficient and effective evidence-based approach to diagnosing vascular injury is necessary, as the difficulty in diagnosis, the multiplicity of diagnostic strategies, the limited time frame in which to initiate appropriate treatment, the limb threatening complications of a missed diagnosis, and the increased awareness of health care expenditures make this entity an intimidating diagnostic challenge [Johansen K, Lynch K, Paun M, et al. J Trauma 1991;31(4):515-9; discussion 519-22; Lynch K, Johansen K. Ann Surg 1991;214(6):737-41; Walker ML, Poindexter Jr JM, Stovall I. Surg Gynecol Obstet 1990;170(2):97-105; Kendall RW, Taylor DC, Salvian AJ, et al. J Trauma 1993;35(6):875-8]. The purpose of this article is to present an evidence-based algorithm for patients who present with either arterial injury or a high-risk of arterial injury. A diagnostic algorithm will be presented, and the rationale for diagnostic interventions will be discussed in the context of current medical literature.

Angiography↗