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Diagnostic Entities (diagnostic + entity)
Selected AbstractsThe concept of the epilepsy syndrome: How useful is it in clinical practice?EPILEPSIA, Issue 2009Ettore Beghi Summary An epilepsy syndrome is a disorder characterized by a cluster of symptoms and signs customarily occurring in combination. A syndromic approach to the epilepsies would be of practical value for diagnostic, prognostic, and therapeutic purposes. However, despite considerable efforts by leaders in the field of epileptology and the improved knowledge of the clinical, genetic, imaging, and biologic aspects of epilepsy, there are no measurable objective criteria for recognizing seizure types and epilepsy syndromes as separate diagnostic entities with well-defined prognostic and therapeutic aspects. The lack of pragmatic, evidence-based instruments to devise a syndromic classification useful for clinical practice can be explained by the evolving concept of epilepsy syndrome, its dynamic characteristics, the poor prognostic predictivity, and the extremely complex genetic and pathophysiologic mechanisms underlying the epileptic phenomena. In addition, the results of the published reports on epilepsy syndromes are mostly biased by flaws in the study population, design, and statistical analysis. The Classification Core Group of the International League Against Epilepsy (ILAE), which is working on a new classification of the epilepsies, stated that the process of syndrome identification requires that an evidence-based approach be applied to the published literature and future studies. [source] Report of the ILAE Classification Core GroupEPILEPSIA, Issue 9 2006Jerome Engel Jr Chair Summary:, A Core Group of the Task Force on Classification and Terminology has evaluated the lists of epileptic seizure types and epilepsy syndromes approved by the General Assembly in Buenos Aires in 2001, and considered possible alternative systems of classification. No new classification has as yet been proposed. Because the 1981 classification of epileptic seizure types, and the 1989 classification of epilepsy syndromes and epilepsies are generally accepted and workable, they will not be discarded unless, and until, clearly better classifications have been devised, although periodic modifications to the current classifications may be suggested. At this time, however, the Core Group has focused on establishing scientifically rigorous criteria for identification of specific epileptic seizure types and specific epilepsy syndromes as unique diagnostic entities, and is considering an evidence-based approach. The short-term goal is to present a list of seizure types and syndromes to the ILAE Executive Committee for approval as testable working hypotheses, subject to verification, falsification, and revision. This report represents completion of this work. If sufficient evidence subsequently becomes available to disprove any hypothesis, the seizure type or syndrome will be reevaluated and revised or discarded, with Executive Committee approval. The recognition of specific seizure types and syndromes, as well as any change in classification of seizure types and syndromes, therefore, will continue to be an ongoing dynamic process. A major purpose of this approach is to identify research necessary to clarify remaining issues of uncertainty, and to pave the way for new classifications. [source] The amazing universe of hepatic microstructure,HEPATOLOGY, Issue 2 2009Valeer J. Desmet An informal review is presented by the author of his 50 years of involvement in practice and research in hepatopathology. Some background for the author's attitude and meandering pathway into his professional career serves as introduction to a short discussion of the main topics of his interest and expertise. Histogenesis of liver cancer was the theme of early work for a Ph.D. thesis, the results of which were lost into oblivion due to local rules and circumstances, but were rescued three decades later. His conclusions about the cells of origin of liver cancer remain concordant with the newer concepts in the field after nearly half a century. Studies in the field of chronic hepatitis became a long saga, involving the first classification of this syndrome by "the Gnomes" in 1968, histochemical investigations of viral antigens, lymphocyte subsets and adhesion molecules, and a quarter century later, the creation of a new classification presently in use. Cholestasis was a broadening field in diagnostic entities and involved the study of liver lesions, comprising pathways of bile regurgitation (including reversed secretory polarity of hepatocytes) and so-called ductular reaction. The latter topic has a high importance for the various roles it plays in modulating liver tissue of chronic cholestasis into biliary cirrhosis, and as the territory of hepatic progenitor cells, crucial for liver regeneration in adverse conditions and in development of liver cancer. Study of the embryology of intrahepatic bile ducts helped to clarify the strange appearance of the ducts in "ductal plate configuration" in several conditions, including some forms of biliary atresia with poor prognosis and all varieties of fibrocystic bile duct diseases with "ductal plate malformation" as the basic morphologic lesion. (HEPATOLOGY 2009;50:333,344.) [source] Are chronic fatigue syndrome and fibromyalgia the same?JOURNAL OF PSYCHIATRIC & MENTAL HEALTH NURSING, Issue 10 2009Implications for the provision of appropriate mental health intervention Accessible summary ,,This paper views the historical perspectives of chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) and fibromyalgia (FM) that gives an understanding of the background to these complex syndromes. ,,The relationship between CFS/ME and FM are considered based on the evidence presented, which identifies that there is compelling evidence that these two syndromes may in fact be the same. This is interesting as current evidence suggests that these two syndromes are currently treated differently. ,,The long-standing controversy surrounding the aetiology CFS/ME is discussed in relation to the issues of mental health, in particular anxiety and/or depression that has been associated with this condition. In contrast, FM is reviewed in relation to the associated symptomology of anxiety and/or depression. ,,This review provides the reader with compelling evidence to suggest that the initial presenting symptoms of these two diseases may dictate differential diagnosis and the subsequent treatment they receive if any and, moreover, if indeed these syndromes are confused with that of a psychiatric disorder. ,,This paper will give the reader time for thought over the issue that: just because there is at present no specific diagnostic test or treatment for this condition, why then is the conclusion reached that this must be a psychiatric condition. Abstract Chronic fatigue syndrome and fibromyalgia represent distinct diagnostic entities within both the clinical and research literature. A common feature of both presentations is that they are often accompanied by a significant mental health burden. A further salient feature of both conditions is that there is no consistent consensus on aetiology. Evaluation of the features of each disorder seems to present a convincing case that both disorders may indeed have a common aetiology and further, the possibility exists that chronic fatigue syndrome and fibromyalgia represent the same underlying disorder. Paradoxically, given this possibility it is remarkable that both patient groups are treated clinically with considerably different approaches to care and management. Mental health practitioners will come into contact with both groups of patients when support for the psychological consequences of diagnosis are necessary; however, many practitioners will be unaware of the debate regarding the aetiological ambiguities surrounding these presentations. The purpose of this review is to highlight the above issues in order to both facilitate awareness of the current aetiological/diagnostic impasse and facilitate provision of optimum mental health support. [source] Pathological and Clinical Characterization of the ,Troubled Transplant': Data from the DeKAF StudyAMERICAN JOURNAL OF TRANSPLANTATION, Issue 2 2010S. Gourishankar We are studying two cohorts of kidney transplant recipients, with the goal of defining specific clinicopathologic entities that cause late graft dysfunction: (1) prevalent patients with new onset late graft dysfunction (cross-sectional cohort); and (2) newly transplanted patients (prospective cohort). For the cross-sectional cohort (n = 440), mean time from transplant to biopsy was 7.5 ± 6.1 years. Local pathology diagnoses included CAN (48%), CNI toxicity (30%), and perhaps surprisingly, acute rejection (cellular- or Ab-mediated) (23%). Actuarial rate of death-censored graft loss at 1 year postbiopsy was 17.7%; at 2 years, 29.8%. There was no difference in postbiopsy graft survival for recipients with versus without CAN (p = 0.9). Prospective cohort patients (n = 2427) developing graft dysfunction >3 months posttransplant undergo ,index' biopsy. The rate of index biopsy was 8.8% between 3 and 12 months, and 18.2% by 2 years. Mean time from transplant to index biopsy was 1.0 ± 0.6 years. Local pathology diagnoses included CAN (27%), and acute rejection (39%). Intervention to halt late graft deterioration cannot be developed in the absence of meaningful diagnostic entities. We found CAN in late posttransplant biopsies to be of no prognostic value. The DeKAF study will provide broadly applicable diagnostic information to serve as the basis for future trials. [source] Diagnostic Protein Expression in Human Muscle BiopsiesBRAIN PATHOLOGY, Issue 2 2000Antje Bornemann Using immunohistochemistry in diagnosing neuromuscular diseases is meant to enhance the diagnostic yield in two ways. The first application aims at visualizing molecules which are developmentally, neurally, and/or immunologically regulated and not expressed by normal muscle. They are upregulated in pathological conditions and may help assign a given muscular biopsy to one of the main diagnostic entities (muscular dystrophies, inflammatory myopathy, neurogenic atrophy). In the past, muscle-specific molecules with a defined expression pattern during fetal myogenesis served as antigens, with the rationale that the developmental program was switched on in new fibers. Recently, myofibers in diseased muscle are thought of as targets of stimuli which are released by macrophages in muscular dystrophy, by lymphocytes in inflammatory myopathies, or by a lesioned peripheral nerve in neurogenic atrophies. This has somewhat blurred the borders between the diagnostic groups, for certain molecules, e.g. cytokines, may be upregulated after experimental necrotization, denervation, and also in inflammatory myopathies. In the second part of this review we summarise the experiences of a Centre in the North of England that specialises in the diagnosis and clinical support of patients with muscular dystrophy. Emphasis is placed on the use of protein expression to guide mutation analysis, particularly in the limb-girdle muscular dystrophies (a group of diseases that are very difficult to differentiate on clinical grounds alone). We confirm that genetic analysis is essential to corroborate the results of protein analysis in certain conditions (particularly in calpainopathy). However, we conclude that analysing biopsies for abnormal protein expression is very useful in aiding the decision between alternative diagnoses. [source] How does premenstrual dysphoric disorder relate to depression and anxiety disorders?DEPRESSION AND ANXIETY, Issue 3 2003Mikael Landén M.D., Ph.D. Abstract Premenstrual dysphoric disorder (PMDD) is a severe variant of premenstrual syndrome that afflicts approximately 5% of all women of fertile age. The hallmark of this condition is the surfacing of symptoms during the luteal phase of the menstrual cycle, and the disappearance of symptoms shortly after the onset of menstruation. Whereas many researchers have emphasized the similarities between PMDD and anxiety disorders, and in particular panic disorder, others have suggested that PMDD should be regarded as a variant of depression. Supporting both these notions, the treatment of choice for PMDD, the serotonin reuptake inhibitors (SRIs), is also first line of treatment for depression and for most anxiety disorders. In this review, the relationship between PMDD on the one hand, and anxiety and depression on the other, is being discussed. Our conclusion is that PMDD is neither a variant of depression nor an anxiety disorder, but a distinct diagnostic entity, with irritability and affect lability rather than depressed mood or anxiety as most characteristic features. The clinical profile of SRIs when used for PMDD, including a short onset of action, suggests that this effect is mediated by other serotonergic synapses than the antidepressant and anti-anxiety effects of these drugs. Although we hence suggest that PMDD should be regarded as a distinct entity, it should be emphasized that this disorder does display intriguing similarities with other conditions, and in particular with panic disorder, which should be the subject of further studies. Also, the possibility that there are subtypes of PMDD more closely related to depression, or anxiety disorders, than the most common form of the syndrome, should not be excluded. Depression and Anxiety 17:122,129, 2003. © 2003 Wiley-Liss, Inc. [source] Validity of ,post-traumatic stress disorder with secondary psychotic features': a review of the evidenceACTA PSYCHIATRICA SCANDINAVICA, Issue 1 2009M. H. Braakman Objective:, To review the evidence from empirical studies regarding the validity of ,post-traumatic stress disorder with secondary psychotic features' (PTSD-SP) as a separate diagnostic entity. Method:, The authors performed a review tracing publications between 1980 and January 2008. Results:, Twenty-four comparative studies were included. These studies indicate that PTSD-SP is a syndrome that comprises PTSD-symptoms followed in time by the additional appearance of psychotic features. The psychotic features are not confined to episodes of re-experiencing, but remain present continuously. PTSD-SP seems to have some biological features differentiating it from schizophrenia and PTSD, e.g. there are differences in smooth pursuit eye movement patterns, concentrations of corticotropin-releasing factor and dopamine ,-hydroxylase activity. Conclusion:, There is currently not yet full support for PTSD-SP as a nosological entity. However, the delineation of PTSD-SP from other psychiatric syndromes is notable and biological studies seem to support the validity as a separate diagnostic entity. [source] Anabolic,androgenic steroid dependence: an emerging disorderADDICTION, Issue 12 2009Gen Kanayama ABSTRACT Aims Anabolic,androgenic steroids (AAS) are widely used illicitly to gain muscle and lose body fat. Here we review the accumulating human and animal evidence showing that AAS may cause a distinct dependence syndrome, often associated with adverse psychiatric and medical effects. Method We present an illustrative case of AAS dependence, followed by a summary of the human and animal literature on this topic, based on publications known to us or obtained by searching the PubMed database. Results About 30% of AAS users appear to develop a dependence syndrome, characterized by chronic AAS use despite adverse effects on physical, psychosocial or occupational functioning. AAS dependence shares many features with classical drug dependence. For example, hamsters will self-administer AAS, even to the point of death, and both humans and animals exhibit a well-documented AAS withdrawal syndrome, mediated by neuroendocrine and cortical neurotransmitter systems. AAS dependence may particularly involve opioidergic mechanisms. However, AAS differ from classical drugs in that they produce little immediate reward of acute intoxication, but instead a delayed effect of muscle gains. Thus standard diagnostic criteria for substance dependence, usually crafted for acutely intoxicating drugs, must be adapted slightly for cumulatively acting drugs such as AAS. Conclusions AAS dependence is a valid diagnostic entity, and probably a growing public health problem. AAS dependence may share brain mechanisms with other forms of substance dependence, especially opioid dependence. Future studies are needed to characterize AAS dependence more clearly, identify risk factors for this syndrome and develop treatment strategies. [source] Validity of PTSD in a sample of refugee children: can a separate diagnostic entity be justified?INTERNATIONAL JOURNAL OF METHODS IN PSYCHIATRIC RESEARCH, Issue 2 2006Edith Montgomery Abstract The objective of this study was to examine the construct validity of PTSD in a sample of refugee children from the Middle East , more specifically, to assess whether associations between traumatic events and specific PTSD symptoms were more outspoken than (1) the associations of PTSD symptoms with non-traumatic exposures, and (2) the associations of violent exposures with symptoms other than PTSD-symptoms. Parents of 311 refugee children from the Middle East were interviewed concerning their children's traumatic experiences and mental health symptoms. The specific PTSD symptoms did not cluster in a factor analysis. The PTSD symptom complex was significantly predicted not only by violent exposures (mother tortured, OR 8.2, p < 0.005; father disappeared OR 3.2, p < 0.05) but also by indicators of family interaction and parents' occupational situation. The two identified violent exposures had significant independent associations with a series of symptoms including symptoms other than those of PTSD (rs ranging from 0.25 to 0.44, p < 0.001). Thus it does not seem sufficient to focus solely on PTSD symptomatology when assessing the mental health needs of refugee children. Copyright © 2006 John Wiley & Sons, Ltd. [source] The Resting Electrocardiogram in the Management of Patients with Congestive Heart Failure: Established Applications and New InsightsPACING AND CLINICAL ELECTROPHYSIOLOGY, Issue 1 2007JOHN E. MADIAS M.D. The resting electrocardiogram (ECG) furnishes essential information for the diagnosis, management, and prognostic evaluation of patients with congestive heart failure (CHF). Almost any ECG diagnostic entity may turn out to be useful in the care of patients with CHF, revealing the non-specificity of the ECG in CHF. Nevertheless a number of CHF/ECG correlates have been proposed and found to be indispensable in clinical practice; they include, among others, the ECG diagnoses of myocardial ischemia and infarction, atrial fibrillation, left ventricular hypertrophy/dilatation, left bundle branch block and intraventricular conduction delays, left atrial abnormality, and QT-interval prolongation. In addition to the above well-known applications of the ECG for patients with CHF, a recently described association of peripheral edema (PERED), sometimes even imperceptible by physical examination, with attenuated ECG potentials, could extend further the diagnostic range of the clinician. These ECG voltage attenuations are of extracardiac mechanism, and impact the amplitude of QRS complexes, P-waves, and T-waves, occasionally resulting also in shortening of the QRS complex and QT interval duration. PERED alleviation, in response to therapy of CHF, reverses all above alterations. These fresh diagnostic insights have potential application in the follow-up of patients with CHF, and in their selection for implantation of cardioverter/defibrillator and/or cardiac resynchronization systems. If sought, PERED-induced ECG changes are abundantly present in the hospital and clinic environments; if their detection and monitoring are incorporated in the clinician's "routine," considerable improvements in the care of patients with CHF may be realized. [source] Physician's practice patterns for chronic prostatitisANDROLOGIA, Issue 5 2009L. Liu Summary Chronic prostatitis (CP) is one of the most prevalent conditions in urology, yet the most poorly understood. Although there is little controversy regarding the therapy for documented acute bacterial infections, most symptomatic men do not have bacterial prostatitis, for which treatment and management are usually successful. Throughout the past century, the diagnostic entity of CP has been recognised and its clinical characteristics have been well described. However, no hard and fast guidelines have been developed. To date, several surveys of physicians have been undertaken in order to examine their practice characteristics, attitude, diagnostics and treatment modalities applied in patients with CP. These surveys demonstrate that physicians show large deficits in familiarity with and knowledge of CP along with significant uniformity in the medical approach to this condition and confirm the frustration experienced by physicians in the management of this disease. The results of these studies also suggest an important role for continuing education on the diagnosis and treatment of CP. Further study is needed to identify the aetiology and pathogenesis of male chronic pelvic pain and to establish guidelines for its diagnosis and treatment. [source] |