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Related Syndromes (relate + syndrome)
Selected AbstractsMid-Ventricular Ballooning Heart SyndromeECHOCARDIOGRAPHY, Issue 4 2007Jean Marc Aubert M.D. Stress cardiomyopathies have been increasingly reported these last years, especially in women as a transient left ventricular apical ballooning syndrome. We report six cases in whom, in the context of anxious situations, echocardiograms and ventriculographies revealed mid-ventricular akinesis with preservation of apical and basal contractilities with normal coronary arteriography. This "mid-ventricular ballooning heart syndrome " should probably be classified as a new type of heart stress related syndrome. [source] Hepatitis C virus risk: a hepatitis C virus related syndromeJOURNAL OF INTERNAL MEDICINE, Issue 5 2000C. Mazzaro Abstract. Mazzaro C, Panarello G, Tesio F, Santini G, Crovatto M, Mazzi G, Zorat F, Tulissi P, Pussini E, Baracetti S, Campanacci L, Pozzato G (Pordenone General Hospital, Pordenone; University of Trieste, School of Medicine, Trieste, Italy). Hepatitis C virus risk: a hepatitis C virus-related syndrome. J Intern Med 2000 247: 535,545. Background. The association between mixed cryoglobulinemia (MC) and hepatitis C virus (HCV) infection has been recently described in many reports. Objective. The aim of this study was to evaluate the long-term prognosis of hepatitis C virus-positive patients affected by mixed cryoglobulinemia with or without kidney involvement. Patients. At total of 119 hepatitis C virus-positive patients affected by mixed cryoglobulinemia were divided in two groups. Group A: mixed cryoglobulinemia without kidney involvement (103 cases); group B: mixed cryoglobulinemia with glomerulonephritis (GN) (16 cases). A further 37 patients affected by mesangio-proliferative glomerulonephritis (MPGN) were evaluated as controls (group C). Methods. Anti-hepatitis C virus antibodies were determined by commercial kits and hepatitis C virus-RNA was detected by polymerase chain reaction (PCR) amplification of the 5, untranslated region (5,UTR) of the virus. The hepatitis C virus genotype was determined according to Okamoto. Liver biopsy was performed in 62 patients, bone marrow biopsy in 65 patients, and kidney biopsy in all patients with proteinuria. Results. In group A, 46 patients (45%) were affected by chronic liver disease (CLD), 21 (20%) by low-grade non-Hodgkin's lymphoma (NHL) and 16 (15%) by both diseases. All patients of group B were affected by type I membrano-proliferative glomerulonephritis, 3 (19%) by chronic liver disease, 6 (37%) by low-grade non-Hodgkin's lymphoma, and 7 (44%) by both diseases. Several genotypes of hepatitis C virus were found, but Type 1b was prevalent. In group C, no patient showed chronic liver disease or non-Hodgkin's lymphoma. Younger age, higher mean blood pressure, lower C4 serum level, and poorer survival significantly distinguished group B from group A. Survival rates at 5 years were: 87.4% for group A, 89.5% for group C, and 50.0% for group B. None of the patients of group B developed kidney failure requiring dialysis, whilst infections were the leading cause of death. Conclusions. In hepatitis C virus-positive patients, the presence of mixed cryoglobulinemia associated with kidney involvement seems to indicate a new syndrome characterized by immune system impairment, lack of progression to kidney failure, and poor survival (hepatitis C virus-Risk syndrome). [source] Return of the cycad hypothesis , does the amyotrophic lateral sclerosis/parkinsonism dementia complex (ALS/PDC) of Guam have new implications for global health?NEUROPATHOLOGY & APPLIED NEUROBIOLOGY, Issue 4 2005P. G. Ince Recently published work provides evidence in support of the cycad hypothesis for Lytico,Bodig, the Guamanian amyotrophic lateral sclerosis/parkinsonism dementia complex (ALS/PDC), based on a new understanding of Chamorro food practices, a cyanobacterial origin of ,-methylaminoalanine (BMAA) in cycad tissue, and a possible mechanism of biomagnification of this neurotoxic amino acid in the food chain. BMAA is one of two cycad chemicals with known neurotoxic properties (the other is cycasin, a proven developmental neurotoxin) among the many substances that exist in these highly poisonous plants, the seeds of which are used by Chamorros for food and medicine. The traditional diet includes the fruit bat, a species that feeds on cycad seed components and reportedly bioaccumulates BMAA. Plant and animal proteins provide a previously unrecognized reservoir for the slow release of this toxin. BMAA is reported in the brain tissue of Guam patients and early data suggest that some Northern American patients dying of Alzheimer's disease (AD) have detectable brain levels of BMAA. The possible role of cyanobacterial toxicity in sporadic neurodegenerative disease is therefore worthy of consideration. Recent neuropathology studies of ALS/PDC confirm understanding of this disorder as a ,tangle' disease, based on variable anatomical burden, and showing biochemical characteristics of ,AD-like' combined 3R and 4R tau species. This model mirrors the emerging view that other neurodegenerative disease spectra comprise clusters of related syndromes, owing to common molecular pathology, with variable anatomical distribution in the nervous system giving rise to different clinical phenotypes. Evidence for ,ubiquitin-only' inclusions in ALS/PDC is weak. Similarly, although there is evidence for ,-synucleinopathy in ALS/PDC, the parkinsonian component of the disease is not caused by Lewy body disease. The spectrum of sporadic AD includes involvement of the substantia nigra and a high prevalence of ,incidental',-synucleinopathy in sporadic AD is reported. Therefore the pathogenesis of Lytico,Bodig appears still to have most pertinence to the ongoing investigation of the pathogenesis of AD and other tauopathies. [source] Research Review: ,Ain't misbehavin': Towards a developmentally-specified nosology for preschool disruptive behaviorTHE JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES, Issue 1 2010Lauren S. Wakschlag There is increasing consensus that disruptive behavior disorders and syndromes (DBDs) are identifiable in preschool children. There is also concomitant recognition of the limitations of the current DBD nosology for distinguishing disruptive behavior symptoms from the normative misbehavior of early childhood. In particular, there appears to be substantial insensitivity to heterotypic manifestations of this developmental period and problems in identifying meaningful heterogeneity. As a result, the developmental basis for much of the current nosology may be called into question. To address these and other critical issues, this paper reviews the foundational elements of clinical and developmental science pertinent to developmental differentiation of disruptive behavior in the preschool period as paradigmatic for developmental specification across the lifespan and generates an agenda for future research. We begin by reviewing evidence of the validity of DBDs in preschool children. This is followed by an outline of key developmental concepts and a review of the corollary evidence from developmental science. These provide a basis for conceptualizing disruptive behavior in reference to developmental deviation in four core dimensions hypothesized to mark the core features of disruptive behavior syndromes. Finally, we propose a program of research to establish an empirical basis for determining the incremental utility of a developmentally specified nosology. Central to this approach is a contention that the benefits of developmental specification are extensive and outweigh any disadvantages. This is because a developmentally specified approach holds substantial promise for increasing sensitivity and specificity for differentiating disruptive behavior from normative misbehavior and from other related syndromes as well as for improving prediction. Further, more precisely defined, developmentally based phenotypes are likely to elucidate distinct mechanisms within translational studies and to serve as a catalyst for the generation of novel treatments. [source] The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibilityCLINICAL GENETICS, Issue 6 2009N Sambuughin It has been suggested that exertional rhabdomyolysis (ER) and malignant hyperthermia (MH) are related syndromes. We hypothesize that patients with unexplained ER harbor mutations in the ryanodine receptor gene type 1 (RYR1), a primary gene implicated in MH, and therefore ER patients are at increased risk for MH. Although there are reported cases of MH in individuals of African descent, there are no data available on molecular characterization of these patients. We analyzed RYR1 in six, unrelated African American men with unexplained ER, who were subsequently diagnosed as MH susceptible (MHS) by the Caffeine Halothane Contracture Test. Three novel and two variants, previously reported in Caucasian MHS subjects, were found in five studied patients. The novel variants were highly conserved amino acids and were absent among 230 control subjects of various ethnic backgrounds. These results emphasize the importance of performing muscle contracture testing and RYR1 mutation screening in patients with unexplained ER. The MHS-associated variant Ala1352Gly was identified as a polymorphism predominant in individuals of African descent. Our data underscore the need for investigating RYR1 across different ethnic groups and will contribute to interpretation of genetic screening results of individuals at risk for MH. [source] | ||||||||||