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BACKGROUND: Inherited myoclonus-dystonia (M-D) is a disorder that is characterized primarily by myoclonic jerks and is often accompanied by dystonia. In addition to motor features, psychiatric disease is reported in some families. METHODS: To determine whether the same genetic etiology underlies both neurologic and psychiatric signs, the authors studied psychiatric symptoms in nonmanifesting carriers (NMC), noncarriers (NC), and manifesting carriers (MC) in three families demonstrating linkage of M-D to the 7q21 locus. Interviewers administered the computerized version of the Composite International Diagnostic Interview. Algorithms for the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition diagnosis of obsessive-compulsive disorder (OCD), generalized anxiety disorder, major affective disorder, alcohol abuse, alcohol dependence, drug abuse, and drug dependence were used. Rates of disorders among the MC, NMC, and NC were compared. RESULTS: Of 55 participating individuals, 16 were MC, 11 were NMC, and 28 were NC. The rate of OCD was greater in carriers (5/27) compared with NC (0/28) (p = 0.023). It was also greater in the symptomatic gene carriers (4/16) compared with the asymptomatic group (1/11) (p = 0.022). Alcohol dependence was increased in the symptomatic carriers (7/16) (p = 0.027), but not in the carrier group overall (7/27). CONCLUSION: OCD may be associated with the DYT11 M-D gene; however, a larger sample is necessary to confirm this finding. Alcohol dependence is highly associated with expressing symptoms of M-D. This may be explained by self-medication with alcohol to improve motor symptoms of M-D.
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This review presents the wide spectrum of radiological abnormalities seen in patients with collagen-vascular disorders. It provides an overview of both common and uncommon findings observed in this group of diseases. Moreover, diagnostic imaging algorithms used in conjunction with clinical tests are presented. In addition to conventional radiography and computed tomography (CT), these diagnostic algorithms also include more recent radiological modalities, such as thin section CT and multislice CT.
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We define and study a combinatorial problem called WEIGHTED DIAGNOSTIC COVER (WDC) that models the use of a laboratory technique called genotyping in the diagnosis of an important class of chromosomal aberrations. An optimal solution to WDC would enable us to define a genetic assay that maximizes the diagnostic power for a specified cost of laboratory work. We develop approximation algorithms for WDC by making use of the well-known problem SET COVER for which the greedy heuristic has been extensively studied. We prove worst-case performance bounds on the greedy heuristic for WDC and for another heuristic we call directional greedy. We implemented both heuristics. We also implemented a local search heuristic that takes the solutions obtained by greedy and dir-greedy and applies swaps until they are locally optimal. We report their performance on a real data set that is representative of the options that a clinical geneticist faces for the real diagnostic problem. Many open problems related to WDC remain, both of theoretical interest and practical importance.
Despite questions about accuracy, automated data are used increasingly for research and quality measurement. The goal of this study was to develop an automated data algorithm designed to distinguish screening and diagnostic endoscopy (sigmoidoscopy and colonoscopy) exams. We assessed the algorithm's ability to correctly classify the exams using paper medical records as the "gold standard." The algorithm used diagnostic codes to identify the indication of the endoscopies. The algorithm's ability to classify the indication varied by endoscopy exam. The sensitivities for identifying diagnostic sigmoidoscopy and colonoscopy were 48.1% and 23.8%, respectively. The algorithm missed most of the diagnostic endoscopies. Conversely, the sensitivities for identifying screening sigmoidoscopy and colonoscopy were high (87.9% and 84.4%, respectively) but were associated with low specificities. Our findings suggest that studies relying solely on automated data overestimate screening rates if indication is not considered. The automated algorithm presented here needs further improvements to better differentiate screening from diagnostic exams.
BACKGROUND: The verbal autopsy (VA) is used to collect information on cause-specific mortality from bereaved relatives. A cause of death may be assigned by physician review of the questionnaires, or by an algorithm. We compared the diagnostic accuracy of physician review, an expert algorithm, and data-derived algorithms. METHODS: Data were drawn from a multicentre validation study of 796 adult deaths that occurred in hospitals in Tanzania, Ethiopia, and Ghana. A 'gold standard' cause of death was assigned using hospital records and death certificates. The VA interviews were carried out by trained fieldworkers 1-21 months after the subject's death. A cause of death was assigned by physician review and an expert algorithm. Data-derived algorithms that most accurately estimated the cause-specific mortality fraction (CSMF) for each cause of death were identified using logistic regression. RESULTS: The most common causes of death were tuberculosis/AIDS (CSMF = 18.6%), malaria (CSMF = 10.7%), meningitis (CSMF = 8.3%), and cardiovascular disorders (CSMF = 8.2%). The CSMF obtained using physician review was within +/-20% of the gold standard value for 12 causes of death including the four common causes. The CSMF obtained using the expert algorithm was within +/-20% of the gold standard for eight causes of death, including tuberculosis/AIDS, malaria, and meningitis. The CSMF obtained using the data-derived algorithms was within +/-20% of the gold standard for seven causes of death, including tuberculosis/ AIDS, meningitis, and cardiovascular disorders. All three methods yielded a specificity of at least 80% for all causes of death, and a sensitivity of at least 80% for deaths due to injuries and rabies. CONCLUSIONS: For those settings where physician review is not feasible, expert and data-derived algorithms provide an alternative approach for assigning many causes of death. We recommend that the algorithms proposed herein are validated further.
BACKGROUND: Juvenile nephronophthisis (NPH1), an autosomal recessive cystic disease of the kidney, represents the most common genetic cause of end-stage renal disease in the first two decades of life. On the basis of identification of the gene (NPHP1) defective in NPH1 and the presence of homozygous deletions of NPHP1 in the majority of NPH1 patients, molecular genetic diagnosis for NPH1 is now possible. Molecular genetic testing offers the only method for definite diagnosis of NPH1 and avoids invasive diagnostic measures like renal biopsy. METHODS: We examined 127 families (204 patients) with the presumed diagnosis of NPH using molecular genetic diagnostic techniques. In 68 families, renal biopsy was performed and was consistent with NPH, and in 61 families, there was more than one affected child ("multiplex families"). RESULTS: In 74 families (115 patients), there was proof of the diagnosis of NPH1 by detection of a homozygous deletion of the NPHP1 gene, and in 5 families a heterozygous deletion in combination with a point mutation in NPHP1 was demonstrated. Furthermore, for 16 families, NPH1 was excluded with high likelihood by linkage analysis, and for 20 families by detection of heterozygosity for two newly identified polymorphic markers within the deletion region. In 5 of the remaining 12 families, which were noninformative for these markers, fluorescence in situ hybridization did not detect any further heterozygous deletions. CONCLUSIONS: The diagnosis of NPH1 was proven by molecular genetic techniques in 62% of families with one or more children with the presumed diagnosis of NPH. We present evidence that there is a fourth locus for NPH, since only 6 of the 26 multiplex families in whom the diagnosis of NPH1 was excluded were compatible with linkage to other loci for NPH. On the basis of the presented data, we propose an algorithm for molecular genetic diagnostics in NPH.
This paper presents guidelines for the diagnosis and treatment of schizophrenia. Diagnostic guidelines are based on ICD-10 criteria for diagnosis of schizophrenia. Treatment guidelines represent a synthesis of some recently published international algorithms and our own experiences. The guidelines were presented at the seminar organized by the Croatian Association for Clinical Psychiatry and represent professional recommendations of the Association for Diagnostics and Treatment of Schizophrenia. The treatment guidelines include psychopharmacological recommendations for the selection and dosage of antipsychostics, guidelines for psychosocial interventions and psychotherapy. The treatment of the first episode, exarcerbation, relapse of illness, as well as maintenance therapy, treatment resistance and side effects are included.
Depression is a frequent and important complication after stroke. The occurrence of a post-stroke-depression (PSD) has a significant impact on the functional and cognitive deficit, on mortality and on quality of life after stroke. In contrast to the clinical importance, PSD is often ignored in routine management of stroke patients and remains often untreated if diagnosed. The diagnostic uncertainty is aggravated by the lack of appropriate diagnostic criteria for PSD in the International Classification of Diseases (ICD-10) used in Germany. For the first time, we present an algorithm, which allows for a standardized examination of stroke patients on the presence of PSD. All stroke patients should be examined initially by a short and simple screening tool and are subjected to more extensive procedures only if PSD is assumed based on the screening result. Furthermore potentials and limitations to convert the diagnosis of PSD into a diagnostic related group (DRG) that is used to calculate the hospital's reimbursement are highlighted. Finally pharmacological treatment options for PSD are discussed.
This paper addresses the optimization of noninvasive diagnostic schemes using evolutionary algorithms in medical applications based on the interpretation of biosignals. A general diagnostic methodology using a set of definable characteristics extracted from the biosignal source followed by the specific diagnostic scheme is presented. In this framework, multiobjective evolutionary algorithms are used to meet not only classification accuracy but also other objectives of medical interest, which can be conflicting. Furthermore, the use of both multimodal and multiobjective evolutionary optimization algorithms provides the medical specialist with different alternatives for configuring the diagnostic scheme. Some application examples of this methodology are described in the diagnosis of a specific cardiac disorder-paroxysmal atrial fibrillation.
Thorough imaging of the cervical spine often requires more than one test. The many available options from which to choose can often lead to redundancy and confusion regarding the best test series. In an effort to make the process of choosing the most effective imaging series more efficient, we review the current literature on cervical imaging and, from the information gathered, construct a diagnostic imaging algorithm for evaluating the cervical spine.
As clinicians evaluate patients, they first develop problem lists based on the history, physical examination, and basic laboratory studies. Synthesis and analysis result in a differential diagnosis with associated disease probabilities. Experienced clinicians then selectively use diagnostic tests to rule in or rule out these possibilities. For example, in a patient presenting with jaundice, anorexia, fever, and abdominal pain, the relative increases of the serum aminotransferase activity and the serum alkaline phosphatase will help to guide the subsequent evaluation. If the aminotransferase activity is markedly increase, then the subsequent evaluation will be targeted toward identifying an etiology for hepatocellular injury. In contrast, if the alkaline phosphatase is markedly increased, then the evaluation would be targeted toward identifying an etiology for obstructive jaundice. This paper reviews clinical decision making, discusses characteristics of diagnostic tests, and presents examples of how basic clinical information can guide the use of the laboratory in evaluating patients with suspected liver disease.