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Related Disorders (relate + disorders)
Selected AbstractsMyasthenia Gravis and Related DisordersEUROPEAN JOURNAL OF NEUROLOGY, Issue 5 2009K. A. Jellinger No abstract is available for this article. [source] Validity Study of Kessler's Psychological Distress Scales Conducted Among Patients Admitted to French Emergency Department for Alcohol Consumption,Related DisordersALCOHOLISM, Issue 7 2010Benjamin Arnaud Background:, Alcohol-related disorders (ARD) encountered in emergency departments (ED) have a high prevalence and are underestimated. It is necessary to provide professionals with a tool to identify patients in whom there is a risk that alcohol-related and mental health problems may be associated. Kessler's K6/10 psychological distress scales are fast, easy-to-use, and have been shown to achieve a good performance in the identification of psychological distress associated with ARD. Aim:, The aim of this study was to evaluate the psychometric properties of the Kessler scales, version 6 and 10, with a sample of patients admitted to EDs for alcohol consumption. Methods:, On the day after their admission, with a zero "blood" alcohol concentration, 71 patients were randomly assigned to be assessed using 6 or 10 items version. The internal consistency and factor structure of the K6/10 versions were examined. Convergent validity was measured using the Hospital Anxiety and Depression Scale (HADS) and the Hamilton Depression Rating Scale (HDRS). Results:, The prevalence of psychological distress in our sample was approximately 60%. The selected threshold scores were 10 for K6 (Sensitivity: 0.92; Specificity: 0.62) and 14 for K10 (Sensitivity: 0.95; Specificity: 0.54). The Cronbach coefficients for K6 and K10 were 0.76 and 0.84, respectively. The factor analyses indicated the multidimensional nature of K6/10. The 2 versions, containing 6 and 10 items respectively, correlated better with the HADS (0.83 and 0.70, respectively) than with the HDRS (0.51 and 0.49, respectively). The areas under the ROC Curve indicated a high level of accuracy for both the K6 (0.87) and the K10 (0.77). The difference was not statistically significant. Conclusions:, This study confirms the good psychometric characteristics of Kessler's psychological distress scale. Even though similar performances were observed for K6/10, the brevity of the K6 makes it more suitable for use in EDs. [source] Disc Related and Non-Disc Related Disorders of the Thoracic SpinePAIN PRACTICE, Issue 2 2001Phillip S. Sizer Jr. MEd Abstract: Different anatomical structures and pathophysiological functions can be responsible for lumbar pain, each producing a distinctive clinical profile. Pain can arise from the intervertebral disc, either acutely as a primary disc related disorder, or as result of the degradation associated with chronic internal disc disruption. In either case, greatest pain provocation will be associated with movements and functions in the sagittal plane. Lumbar pain can also arise from afflictions within the zygapophyseal joint mechanism, as a result of synovitis or chondropathy. Either of these conditions will produce the greatest pain provocation during three-dimensional movements, due to maximal stress to either the synovium or joint cartilage. Finally, patients can experience different symptoms associated with irritation to the dural sleeve, dorsal root ganglion, or chemically irritated lumbar nerve root. Differential diagnosis of these conditions requires a thorough examination and provides information that can assist the clinician in selecting appropriate management strategies. [source] National Registry for Ichthyosis and Related DisordersPEDIATRIC DERMATOLOGY, Issue 4 2000Article first published online: 25 DEC 200 [source] Keynote Lecture K01: Tau and ,-Synuclein in Alzheimer's Disease and Related DisordersBRAIN PATHOLOGY, Issue 4 2000Article first published online: 5 APR 200 No abstract is available for this article. [source] Symposium S01: Tau and ,-Synuclein in Alzheimer's Disease and Related DisordersBRAIN PATHOLOGY, Issue 4 2000Article first published online: 5 APR 200 First page of article [source] Insulin resistance and fuel homeostasis: the role of AMP-activated protein kinaseACTA PHYSIOLOGICA, Issue 1 2009B. D. Hegarty Abstract The worldwide prevalence of type 2 diabetes (T2D) and related disorders of the metabolic syndrome (MS) has reached epidemic proportions. Insulin resistance (IR) is a major perturbation that characterizes these disorders. Extra-adipose accumulation of lipid, particularly within the liver and skeletal muscle, is closely linked with the development of IR. The AMP-activated protein kinase (AMPK) pathway plays an important role in the regulation of both lipid and glucose metabolism. Through its effects to increase fatty acid oxidation and inhibit lipogenesis, AMPK activity in the liver and skeletal muscle could be expected to ameliorate lipid accumulation and associated IR in these tissues. In addition, AMPK promotes glucose uptake into skeletal muscle and suppresses glucose output from the liver via insulin-independent mechanisms. These characteristics make AMPK a highly attractive target for the development of strategies to curb the prevalence and costs of T2D. Recent insights into the regulation of AMPK and mechanisms by which it modulates fuel metabolism in liver and skeletal muscle are discussed here. In addition, we consider the arguments for and against the hypothesis that dysfunctional AMPK contributes to IR. Finally we review studies which assess AMPK as an appropriate target for the prevention and treatment of T2D and MS. [source] Five-year follow-up during antipsychotic treatment: efficacy, safety, functional and social outcomeACTA PSYCHIATRICA SCANDINAVICA, Issue 2007E. Lindström Objective:, Explore the long-term course of schizophrenia and related disorders. Method:, Naturalistic study of 225 patients initially treated with risperidone (monotherapy or in combination with other psychotropic drugs) over 5 years. Results:, Stable symptomatology and side effects were observed. Clinician GAF scores were 55,61, but patients' self-ratings were higher. Clinician and patient CGI scores were at the same level. Annual in-patient days decreased but days in sheltered accommodations increased still more. Only 12% of the patients studied or worked full-time. One in four had no social contacts except with staff. Eight patients died during the 5 years. Conclusion:, The findings underline the chronicity and seriousness of psychotic disorders in terms of social outcome and, indirectly, the low quality of life of this group of persons. Patients were generally well aware of their illness and able to sort out symptoms from drug side effects. This opens for more active involvement of patients in monitoring their own treatment. [source] Searching for schizophrenia in ancient Greek and Roman literature: a systematic reviewACTA PSYCHIATRICA SCANDINAVICA, Issue 5 2003K. Evans Objective:, The aim of this study was to systematically examine ancient Roman and Greek texts to identify descriptions of schizophrenia and related disorders. Method:, Material from Greek and Roman literature dating from the 5th Century BC to the beginning of the 2nd Century AD was systematically reviewed for symptoms of mental illness. DSM IV criteria were applied in order to identify material related to schizophrenia and related disorders. Results:, The general public had an awareness of psychotic disorders, because the symptoms were described in works of fiction and in historical accounts of malingering. There were isolated instances of text related to psychotic symptoms in the residents of ancient Rome and Greece, but no written material describing a condition that would meet modern diagnostic criteria for schizophrenia. Conclusion:, In contrast to many other psychiatric disorders that are represented in ancient Greek and Roman literature, there were no descriptions of individuals with schizophrenia in the material assessed in this review. [source] ASIA PACIFIC COLUMN: New challenges and opportunities in managing substance abuse in MalaysiaDRUG AND ALCOHOL REVIEW, Issue 5 2006MAHMUD MAZLAN MD Abstract Until recently, Malaysia has lagged behind in the treatment of drug addiction and related disorders, despite experiencing severe drug problems. By the end of 2004, 234 000 heroin users or heroin-dependent individuals had been registered in the official government registry, but other estimates exceed 500 000 for heroin abusers in the country. Amphetamine-type stimulant abuse is also increasing and of considerable public and government concern. Among the population of drug users, HIV and other infectious diseases rates are very high. In the Western Pacific regions, Malaysia has the second highest HIV prevalence (after Vietnam) among adult populations (0.62%) and the highest proportion of HIV cases resulting from injection drug use (76.3%). Drug use and related disorders exert a heavy burden on the country's health care and legal systems. Historically, drug abusers were rehabilitated involuntarily in correctional, rather than health-care, facilities. This primarily criminal treatment approach had limited effectiveness which led to widespread public dissatisfaction and the recent introduction of medical treatments for addiction. Naltrexone was introduced in 1999; buprenorphine was introduced in 2001 and methadone in 2003. Agonist maintenance programmes were embraced rapidly by the medical community in Malaysia. Currently, over 30 000 opiate-dependent patients are treated with agonist maintenance treatments by more than 500 medical practitioners in Malaysia. Despite these recent advances, treatments for amphetamine-type stimulant abuse or dependence are underdeveloped, and diversion of agonist medications is an emerging concern. [source] The rationale for early intervention in schizophrenia and related disordersEARLY INTERVENTION IN PSYCHIATRY, Issue 2009Merete Nordentoft Abstract Aim: To examine the rationale and evidence supporting an early intervention approach in schizophrenia. Methods: A selective literature review was conducted. Results: During the onset of schizophrenia, there is often a significant delay between the emergence of psychotic symptoms and the initiation of treatment. The average duration of untreated psychosis is around 1,2 years. During this period, brain function may continue to deteriorate and social networks can be irreversibly damaged. Studies have consistently linked longer duration of untreated psychosis with poorer outcomes and this relationship holds even after controlling for the potential confounding variable of premorbid functioning. In Norway, the early Treatment and Intervention in PSychosis study demonstrated that duration of untreated psychosis is amenable to intervention with the combination of educational campaigns and specialized early detection units substantially decreasing the period from onset of symptoms to treatment initiation. Furthermore, recent evidence from the randomized controlled OPUS and the Lambeth Early Onset trial studies have linked phase-specific early interventions to improved outcomes spanning symptoms, adherence to treatment, comorbid drug abuse, relapse and readmission. Some benefits persist after cessation of the intervention. Conclusions: Early intervention in schizophrenia is justified to reduce the negative personal and social impact of prolonged periods of untreated symptoms. Furthermore, phase-specific interventions are associated with improved outcomes, at least in the short term. Further research is needed to establish the optimum duration of such programmes. [source] Association of tryptophan hydroxylase gene polymorphism with depression, anxiety and comorbid depression and anxiety in a population-based sample of postpartum Taiwanese womenGENES, BRAIN AND BEHAVIOR, Issue 6 2004H. S. Sun Depression and anxiety disorders often coexist clinically and both are known to have a genetic basis, but the mode of inheritance is too complicated to be determined so far. Serotonin is the biogenic amine neurotransmitter most commonly associated with depression and anxiety. Since tryptophan hydroxylase (TPH1) is the rate-limiting enzyme in serotonin biosynthesis, its role in the pathophysiology of these psychiatric diseases has been intensively studied. In this study, we examined whether polymorphism of the TPH1 gene is related to the etiology of major depression, anxiety and comorbid depression and anxiety. Five single nucleoside polymorphisms of the TPH1 gene were studied in a population-based sample of postpartum Taiwanese women consisting of 120 subjects with depression or/and anxiety and 86 matched normal controls. A significant difference (P = 0.0107) in genotype frequency for the T27224C polymorphism was found between the comorbid and normal groups, and risk analysis showed that the C allele conferred a strong protective effect (odds ratio = 0.27; 95% confident interval = 0.11,0.7). Three-allele haplotypes involving T27224C polymorphism were constructed and haplotype associations between particular haplotype combinations and various diseases identified. However, the associations were weak and the overall haplotype frequency profiles in all groups were similar. The results suggest that depression, anxiety, and comorbid depression and anxiety disorders may have related etiologies. In addition, this study suggests that the TPH1 gene might play a role in the pathogenesis of these closely related disorders. [source] Religious Involvement and the Use of Mental Health CareHEALTH SERVICES RESEARCH, Issue 2 2006Katherine M. Harris Objectives. To examine the association between religious involvement and mental health care use by adults age 18 or older with mental health problems. Methods. We used data from the 2001,2003 National Surveys on Drug Use and Health. We defined two subgroups with moderate (n=49,902) and serious mental or emotional distress (n=14,548). For each subgroup, we estimated a series of bivariate probit models of past year use of outpatient care and prescription medications using indicators of the frequency of religious service attendance and two measures of the strength and influence of religious beliefs as independent variables. Covariates included common Diagnostic and Statistical Manual of Mental Disorders, 4th Edition, disorders symptoms, substance use and related disorders, self-rated health status, and sociodemographic characteristics. Results. Among those with moderate distress, we found some evidence of a positive relationship between religious service attendance and outpatient mental health care use and of a negative relationship between the importance of religious beliefs and outpatient use. Among those with serious distress, use of outpatient care and medication was more strongly associated with service attendance and with the importance of religious beliefs. By contrast, we found a negative association between outpatient use and the influence of religious beliefs on decisions. Conclusion. The positive relationship between religious service participation and service use for those with serious distress suggests that policy initiatives aimed at increasing the timely and appropriate use of mental health care may be able to build upon structures and referral processes that currently exist in many religious organizations. [source] Granulin mutations associated with frontotemporal lobar degeneration and related disorders: An update,HUMAN MUTATION, Issue 12 2008I. Gijselinck Abstract Mutations in the gene encoding granulin (HUGO gene symbol GRN, also referred to as progranulin, PGRN), located at chromosome 17q21, were recently linked to tau-negative ubiquitin-positive frontotemporal lobar degeneration (FTLDU). Since then, 63 heterozygous mutations were identified in 163 families worldwide, all leading to loss of functional GRN, implicating a haploinsufficiency mechanism. Together, these mutations explained 5 to 10% of FTLD. The high mutation frequency, however, might still be an underestimation because not all patient samples were examined for all types of loss-of-function mutations and because several variants, including missense mutations, have a yet uncertain pathogenic significance. Although the complete phenotypic spectrum associated with GRN mutations is not yet fully characterized, it was shown that it is highly heterogeneous, suggesting the influence of modifying factors. A role of GRN in neuronal survival was suggested but the exact mechanism by which neurodegeneration and deposition of pathologic brain inclusions occur still has to be clarified. Hum Mutat 0, 1,14, 2008. © 2008 Wiley-Liss, Inc. [source] N-terminal CFTR missense variants severely affect the behavior of the CFTR chloride channel,HUMAN MUTATION, Issue 5 2008G.G. Gené Abstract Over 1,500 cystic fibrosis transmembrane conductance regulator (CFTR) gene sequence variations have been identified in patients with cystic fibrosis (CF) and related disorders involving an impaired function of the CFTR chloride channel. However, detailed structure,function analyses have only been established for a few of them. This study aimed evaluating the impact of eight N-terminus CFTR natural missense changes on channel behavior. By site-directed mutagenesis, we generated four CFTR variants in the N-terminal cytoplasmic tail (p.P5L, p.S50P, p.E60K, and p.R75Q) and four in the first transmembrane segment of membrane-spanning domain 1 (p.G85E/V, p.Y89C, and p.E92K). Immunoblot analysis revealed that p.S50P, p.E60K, p.G85E/V, and p.E92K produced only core-glycosylated proteins. Immunofluorescence and whole cell patch-clamp confirmed intracellular retention, thus reflecting a defect of CFTR folding and/or trafficking. In contrast, both p.R75Q and p.Y89C had a glycosylation pattern and a subcellular distribution comparable to the wild-type CFTR, while the percentage of mature p.P5L was considerably reduced, suggesting a major biogenesis flaw on this channel. Nevertheless, whole-cell chloride currents were recorded for all three variants. Single-channel patch-clamp analyses revealed that the channel activity of p.R75Q appeared similar to that of the wild-type CFTR, while both p.P5L and p.Y89C channels displayed abnormal gating. Overall, our results predict a major impact of the CFTR missense variants analyzed, except p.R75Q, on the CF phenotype and highlight the importance of the CFTR N-terminus on channel physiology. Hum Mutat 29(5), 738,749, 2008. © 2008 Wiley-Liss, Inc. [source] Special acute care unit for older adults with Alzheimer's diseaseINTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY, Issue 2 2008Maria E. Soto Abstract Objective To describe the cognitive, functional, and nutritional features of patients admitted to a Special Acute Care Unit (SACU) for elderly patients with Alzheimer's disease (AD). Methods One-year observational study of patients with AD and other related disorders hospitalized in the SACU, Department of Geriatrics, Toulouse university Hospital during 2005. A comprehensive neurocognitive and non-cognitive geriatric assessment was performed. Data on full clinical evaluation, nutritional status, activities of daily living (ADL), gait and balance disturbance, behavioural and psychological symptoms (BPSD), and sociodemographics were recorded. Results Four-hundred and ninety-two patients were assessed. Their mean age was 81.1,±,7.7, the mean length of stay was 10.7,±,6.3 days, 62% were female, 63.9% were admitted from their own home and 30.4% from a nursing home. Eighty percent of patients had probable Alzheimer's disease or mixed dementia, less than 20% had other causes of dementia. Results of their comprehensive assessment showed a mean mini-mental state examination of 14.5,±,7.4; a mean total ADL score of 3.7,±,1.7. Seventy-seven percent had gait or balance disturbances; 90% of patients presented an unsatisfactory nutritional status. The most common reason for admission was BPSD. Conclusion AD complications are responsible for many acute admissions. Elderly patients suffering from dementia represent a population with unique clinical characteristics. Further randomised clinical trials are needed to evaluate the effectiveness of Special Acute Care Units for patients with AD and other related disorders. Copyright © 2007 John Wiley & Sons, Ltd. [source] Nursing Outcomes for Evaluations of Caregiver Outcomes in a Rural Alzheimer Demonstration ProjectINTERNATIONAL JOURNAL OF NURSING TERMINOLOGIES AND CLASSIFICATION, Issue 2003Janet Specht PURPOSE To evaluate the effectiveness of the interventions of nurse care managers in the care of family members of people with dementia. METHODS Data were collected as part of a 3-year Administration on Aging,funded Alzheimer Demonstration Project to provide expanded in-home services to rural Iowans affected by Alzheimer disease and related disorders in 8 rural Iowa counties,randomly selected to have a nurse care manager and 4 designated control counties that had traditional case management service. Nurse care managers were trained in the care of people with dementia and their caregivers, the use of role transition theory, and the Progressively Lowered Stress Threshold model of care to provide and coordinate services for enrollees. All referred people with cognitive impairment and their families in the 8 study counties were eligible for inclusion. Three selected NOC outcomes were tested in clinical settings. Interrater reliability for the outcomes was good (87%,95%). The construct validity of Caregiver Stressors Outcome was .74 when correlated with the Caregiver Stress Index. FINDINGS Of the 142 subjects with cognitive impairment enrolled within the first year of the grant, 113 had a caregiver. The outcomes were used to evaluate differences in caregiver outcomes at baseline and at 6-month intervals. The majority of caregivers at follow-up was female and had been providing care for ,5 years. For each of the outcomes the majority of caregivers had improved scores, with only 2,4 caregivers getting scores indicating worsening conditions or remaining the same. CONCLUSIONS Preliminary analysis shows a trend of improved outcomes with the use of a nurse care manager. The NOC caregiver outcomes showed good variability among caregivers at baseline, with caregiver responses distributed throughout the scales. The NOC outcomes also provide guidance for interventions of the nurse care managers. Further evaluation of the outcomes is needed, including examining the relationships of placement, health status, and service use of each outcome. The caregiver outcomes offer an effective and efficient means to evaluate services delivered to caregivers of people with dementia. [source] Dialectical behavior therapy for comorbid personality disordersJOURNAL OF CLINICAL PSYCHOLOGY, Issue 2 2008Thomas R. Lynch Abstract Dialectical behavior therapy (DBT) was originally designed as a treatment of emotionally dysregulated, impulsive, and dramatic disorders (e.g., borderline personality disorder) and populations (e.g., parasuicidal women). However, a number of complex disorders represent the dialectical opposite of BPD and related disorders; these disorders are characterized by being overcontrolled, emotionally constricted, perfectionistic, and highly risk-averse. In this article, the authors introduce a recent adaptation of DBT that targets cognitive,behavioral rigidity and emotional constriction and illustrates its application through the case of a man suffering from both paranoid personality disorder and obsessive,compulsive personality disorder. © 2008 Wiley Periodicals, Inc. J Clin Psychol. In Session 64: 1,14, 2008. [source] Globalization, coca-colonization and the chronic disease epidemic: can the Doomsday scenario be averted?JOURNAL OF INTERNAL MEDICINE, Issue 3 2000P. Zimmet Zimmet P (International Diabetes Institute, Melbourne, Australia). Globalization, coca-colonization and the chronic disease epidemic: can the Doomsday scenario be averted? J Intern Med 2000; 247: 301,310. There are at present approximately 110 million people with diabetes in the world but this number will reach over 220 million by the year 2010, the majority of them with type 2 diabetes. Thus there is an urgent need for strategies to prevent the emerging global epidemic of type 2 diabetes to be implemented. Tackling diabetes must be part of an integrated program that addresses lifestyle related disorders. The prevention and control of type 2 diabetes and the other major noncommunicable diseases (NCDs) can be cost- and health-effective through an integrated (i.e. horizontal) approach to noncommunicable diseases disease prevention and control. With the re-emergence of devastating communicable diseases including AIDS, the Ebola virus and tuberculosis, the pressure is on international and regional agencies to see that the noncommunicable disease epidemic is addressed. The international diabetes and public health communities need to adopt a more pragmatic view of the epidemic of type 2 diabetes and other noncommunicable diseases. The current situation is a symptom of globalization with respect to its social, cultural, economic and political significance. Type 2 diabetes will not be prevented by traditional medical approaches; what is required are major and dramatic changes in the socio-economic and cultural status of people in developing countries and the disadvantaged, minority groups in developed nations. The international diabetes and public health communities must lobby and mobilize politicians, other international agencies such as UNDP, UNICEF, and the World Bank as well as other international nongovernmental agencies dealing with the noncommunicable diseases to address the socio-economic, behavioural, nutritional and public health issues that have led to the type 2 diabetes and noncommunicable diseases epidemic. A multidisciplinary Task Force representing all parties which can contribute to a reversal of the underlying socio-economic causes of the problem is an urgent priority. [source] Morphological features and clinical feasibility of thoracic duct: Detection with nonenhanced magnetic resonance imaging at 3.0 TJOURNAL OF MAGNETIC RESONANCE IMAGING, Issue 1 2010Yu De-xin MD Abstract Purpose: To evaluate the detection of the thoracic duct using nonenhanced magnetic resonance imaging (MRI) and to determine the influence of some related disorders on the lymphatic duct. Materials and Methods: Highly fluid-sensitive sequence and fat-suppressed T2-weighted imaging (FS-T2WI) were performed in a total of 139 cases. The axial and coronal images were used to locate the thoracic duct and the measurement and evaluation of its dimensions were performed using a 3D maximum intensity projection (MIP) reconstruction image. The differences in the dimensions among control, portal hypertension, and common bile duct obstruction groups were compared using one-way analysis of variance. Results: The cisterna chyli was shown in 91% of cases on FS-T2WI, while the thoracic duct appeared in 70% of the MIP images. The common configuration of the cisterna chyli was tubular or saccular in 73%. Eighty thoracic ducts had a slight turn declining to the left at the level of T8,10. There was a significant difference in the transverse diameter of the thoracic duct between the portal hypertension group and other groups (F = 5.638, P = 0.005). Conclusion: Nonenhanced MRI is feasible for locating and depicting the morphological features of the thoracic duct. Portal hypertension may influence the dimension of the thoracic duct. J. Magn. Reson. Imaging 2010;32:94,100. © 2010 Wiley-Liss, Inc. [source] Novel putative nonprotein-coding RNA gene from 11q14 displays decreased expression in brains of patients with schizophreniaJOURNAL OF NEUROSCIENCE RESEARCH, Issue 1 2003Oxana O. Polesskaya Abstract A modified method of differential display was employed to identify a novel gene (named PSZA11q14), the expression of which was reduced in brains from patients with schizophrenia. Decreased expression of PSZA11q14 was identified initially in Brodmann's area (BA) 21 from a small group of patients with schizophrenia (n = 4) and normal controls (n = 6) and was confirmed subsequently using independent RT-PCR assay in BA 21, 22, and 9, and in hippocampus from a larger group of patients with schizophrenia (n = 36) and controls (n = 35). PSZA11q14 is located on chromosome 11q14, an area shown previously to co-segregate with schizophrenia and related disorders in several families. Decreased expression of PSZA11q14 in patients with schizophrenia and its location on 11q14 provide converging lines of evidence indicating that PSZA11q14 may be involved in at least some cases of schizophrenia. PSZA11q14 shows no significant homology with any known gene. It has no introns and produces two RNA transcripts of ,4.5 and ,7.0 kb. The largest open reading frame (ORF) in the PSZA11q14 transcripts may potentially encode for a short polypeptide of 71 amino acids. High frequency of rare codons, the short size of this ORF, and low homology with mouse sequences, however, indicate that PSZA11q14 may instead represent a novel member of a family of nonprotein-coding RNA genes that are not translated and that function at the RNA level. PSZA11q14 is located within the first intron of the DLG-2 gene and transcribed in the opposite direction to DLG-2. These results suggest that PSZA11q14 may be considered a candidate gene for schizophrenia acting as an antisense regulator of DLG-2, which controls assembling functional N -methyl- D -aspartate (NMDA) receptors. © 2003 Wiley-Liss, Inc. [source] Improved efficacy and tolerability of retinoic acid in acne vulgaris: a new topical formulation with cyclodextrin complex ,JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 4 2004RY Anadolu ABSTRACT Objectives, Retinoic acid (RA) has long been used, both topically and systemically, for disorders of keratinization, acne and related disorders. In the present study, the efficacy and tolerability of topical RA prepared as a cyclodextrin beta complex (,-CD) is investigated in 66 acne vulgaris patients. Methods, This randomized, double-blind, placebo-controlled study compares nightly topical application of RA/,-CD complex hydrogel formulation (0.025%), RA/,-CD complex in moisturizing base (0.025%), hydrogel base, moisturizer base or a commercial RA gel (0.05%) in acne vulgaris patients. Improvement of acne was assessed using a 5-point improvement scale and by measuring sebum and moisture content of the skin using an SM 810 sebumeter/corneometer. Results, After 3 months of treatment, mean scores of acne improvement on the 5-point scale were 4 with the RA/,-CD complex hydrogel formulation, 4.1 with the RA/,-CD complex in moisturizing base, 1.2 with hydrogel placebo base, 1.1 with moisturizer placebo base and 3 with the commercial RA product. All patients treated with the commercial product experienced local side-effects. One patient discontinued due to severe irritation. None of the patients treated with the RA/,-CD complex in the moisturizing base and hydrogel formulation experienced significant local irritation, although the sebum content of the skin decreased after application of the RA/,-CD preparations. This change was not significant compared to controls. The moisture content of the skin was better preserved in the group treated with the RA/,-CD complex in the moisturizing base. Conclusion, The topical RA/,-CD complex, in hydrogel and moisturizing base, was more effective than the twice concentrated commercial RA product. There were few topical side-effects with this new formulation, which increases patient compliance. Topical RA/,-CD (0.025% RA) did not significantly reduce sebum secretion but may help to preserve optimum epidermal moisture content with the proper base formulation. This is the first study in the literature reporting efficacy and tolerability of the topical RA/,-CD complex in acne vulgaris. We conclude that the topical RA/,-CD complex displays an improved efficacy and tolerability profile and is an effective treatment alternative for acne vulgaris. [source] Immunopathogenic mechanisms in tourette syndrome: A critical review,,MOVEMENT DISORDERS, Issue 9 2009Davide Martino MD Abstract Tourette syndrome (TS) has a multifactorial etiology, in which genetic, environmental, immunological and hormonal factors interact to establish vulnerability. This review: (i) summarizes research exploring the exposure of TS patients to immune-activating environmental factors, and (ii) focuses on recent findings supporting a role of the innate and adaptive immune systems in the pathogenesis of TS and related disorders. A higher exposure prior to disease onset to group A ,-haemolytic streptococcal (GABHS) infections in children with tics and obsessive-compulsive (OC) symptoms has been documented, although their influence upon the course of disease remains uncertain. Increased activation of immune responses in TS is suggested by changes in gene expression profiles of peripheral immune cells, relative frequency of lymphocyte subpopulations, and synthesis of immune effector molecules. Increased activity of cell-mediated mechanisms is suggested by the increased expression of genes controlling natural killer and cytotoxic T cells, increased plasma levels of some pro-inflammatory cytokines which correlate with disease severity, and increased synthesis of antineuronal antibodies. Important methodological differences might account for some inconsistency among results of studies addressing autoantibodies in TS. Finally, a general predisposition to autoimmune responses in TS patients is indicated by the reduced frequency of regulatory T cells, which induce tolerance towards self-antigens. Although the pathogenic role of immune activation in TS has not been definitively proven, a pathophysiological model is proposed to explain the possible effect of immunity upon dopamine transmission regulation and the generation of tics. © 2009 Movement Disorder Society [source] New developments of brain imaging for Parkinson's disease and related disorders,MOVEMENT DISORDERS, Issue 12 2006Paola Piccini MD Abstract Parkinson's disease (PD) and related disorders are subcortical degenerations targeting the nigrostriatal dopaminergic system and basal ganglia. Traditionally, MRI has been used to detect structural and positron emission tomography and single emission computed tomography functional neurochemical and metabolic changes associated with these disorders. Recently, advances in diffusion-weighted MRI, ultrasonography, and radiotracer-based imaging have yielded greater sensitivity for revealing structural change and allowed detection of changes in brain dopamine levels after levodopa and during behavioral tasks. This review focuses on these recent advances in neuroimaging technology and their use for the diagnosis and assessment of PD and other parkinsonian disorders. © 2006 Movement Disorder Society [source] CD 95 mediated apoptosis in embryogenesis: implication in tooth developmentORTHODONTICS & CRANIOFACIAL RESEARCH, Issue 3 2006E Matalová Structured abstract Authors,,, Matalová E, ,etková J, Blackburn J, Mí,ek I, Sharpe PT Introduction,,, Understanding of apoptotic mechanisms involved in tissue shaping is of particular interest because of possible targeted modulation of the development of organ structures such as teeth. Research of CD 95 mediated apoptosis has been focused particularly on cell death in the immune system and related disorders. However, CD 95 mediated apoptosis is also involved in embryogenesis of many organs as the kidney, the lung, the intestine and tissue networks such as the nervous system. Design,,, Narrative review. Results,,, This review briefly summarizes the current knowledge of CD 95 mediated apoptosis in embryogenesis with possible implication in tooth development. CD 95 receptor and CD 95 ligand are found at early stages of tooth development. The data suggest some positive correlations with dental apoptosis distribution, particularly in the primary enamel knot where apoptosis occurs during elimination of this structure. CD 95 deficient (lpr) adult mouse tooth phenotype, however, did not show any alterations in final tooth pattern and morphology. Conclusion,,, To date studies of apoptotic machinery during tooth development show spatial localization of many of the components together with precise and localized timing of cell death. There is still much to be learned about the regulation and importance of apoptosis in tooth development. Nevertheless, the involvement of apoptotic regulatory mechanisms interplaying with other molecules participates to the cellular cross-talk in developing tissues, which opens possible targeted modulations as suggested, e.g. for future molecular dentistry. [source] Allergy related disorders among 2-yrs olds in a general population.PEDIATRIC ALLERGY AND IMMUNOLOGY, Issue 2p1 2010The PACT Study Smidesang I, Saunes M, Storrř O, Řien T, Holmen TL, Johnsen R, Henriksen AH. Allergy related disorders among 2-yrs olds in a general population. The PACT Study. Pediatr Allergy Immunol 2010: 21: 315,320. © 2009 John Wiley & Sons A/S Allergic disorders represent a major health problem in most developed countries, but few population-based studies have focused on these disorders in early childhood. The aims of the present study were to investigate the prevalence, gender differences and distribution of allergy related disorders and their association to sensitization among unselected children, 2 yrs of age, in a general population. A population-based study with parental self reported questionnaire data involving allergy related symptoms and results from allergy tests from 4783 two-yr-old children was conducted, and skin prick tests (SPT) of a randomly selected sample comprising 390 children were performed. In the total population the prevalence of reported wheeze was 26%, doctor diagnosed asthma (DDAsthma) 7.0%, atopic dermatitis (AD) 17% and allergic rhinoconjunctivitis (ARC) 3%. Of the 1008 (21%) allergy tested children 59% reported a positive test, but of the randomly selected children only 8% had a positive SPT. Children with AD were most frequently sensitized and children with ARC were most likely to have other allergy related disorders (70%). More boys than girls had an allergy related disorder or a positive allergy test. In conclusion, two in five had an allergy related disorder, but less than 10% had a positive SPT. Having one allergic disorder, especially ARC, increased substantially the risk of having another, and having AD was most strongly associated to a positive allergy test. Moreover, boys were more likely than girls to have an allergy related disorder or a positive SPT indicating a gender difference in the natural history of allergy related disorders. [source] Life-threatening hemophagocytic syndromes: Current outcomes with hematopoietic stem cell transplantationPEDIATRIC TRANSPLANTATION, Issue 2005Alexandra H. Filipovich Abstract:, Life-threatening hemophagocytic syndromes represent a subset of genetic disorders of inflammation. Many are rapidly lethal and can only be definitively treated at the present time with allogeneic hematopoietic stem cell transplantation (HSCT). In this report, current results with allogeneic transplantation for Hemophagocytic Lymphohistiocytosis (HLH) are described. HLH typically presents symptomatically during infancy and early childhood and can be identified by a constellation of numerous physical findings and laboratory tests indicative of overwhelming inflammation. The majority of patients with familial HLH lack natural killer (NK) cell function; in approximately 50% of cases the specific underlying genetic cause can now be discerned. Effective treatment consists of initial combination therapy with proapoptotic chemotherapy (typically etoposide) and anti-inflammatory therapies (principally steroids) in addition to aggressive supportive care, followed by allogeneic HSCT from the best available donor. Over the past 25 yr, through collaborative worldwide efforts, survival of children with HLH and related disorders has improved from 5% at 1 yr after diagnosis to greater than 50% 3,5 yr after diagnosis. [source] Combat Stress Casualties in Iraq.PERSPECTIVES IN PSYCHIATRIC CARE, Issue 3 2008Part 1: Behavioral Health Consultation at an Expeditionary Medical Group PURPOSE.,We review the role of military mental health professionals in consulting with inpatient medical patients and staff at a combat hospital and aeromedical evacuation staging facility in Iraq. CONCLUSIONS.,Behavioral health consultation with medical and surgical patients during hospitalization and prior to aeromedical evacuation can help identify patients with combat stress exposure that may require future mental health follow-up. PRACTICE IMPLICATIONS.,Extensive use of civilian mental health practitioners including nurse psychotherapists and psychiatric nurse practitioners will be needed to provide psychiatric care for the large number of U.S. veterans who return from deployment with combat stress related disorders. [source] An algorithm to identify antidepressant users with a diagnosis of depression from prescription dataPHARMACOEPIDEMIOLOGY AND DRUG SAFETY, Issue 1 2009Helga Gardarsdottir PharmD Abstract Purpose Antidepressants are used for many indications besides depression. This makes investigating depression treatment outcomes in prescription databases problematic when the indication is unknown. The aim of our study is to develop an algorithm to identify antidepressant drug users from prescription data that suffer from depression. Methods Data for deriving the algorithm were obtained from the Second Dutch National Survey of General Practice, carried out in 2001 by The Netherlands Institute for Health Services Research (NIVEL), and for validation the Integrated Primary Care Information (IPCI) database was used. Both sets included adults receiving their first antidepressant drug in 2001 (n,=,1855 and 3321, respectively). The outcome was a registered diagnosis of depression. Covariates investigated for developing the algorithm were patient and prescribing characteristics, and co-medication. Results The predictive algorithm included age, SSRI prescribed on the index date, prescribed dose, general practitioner as prescriber and the number of antidepressant prescriptions prescribed plus medication for treating acid related disorders, laxatives, cardiac therapy or hypnotics/sedatives prescribed in the 6 months prior to index date. The probability that the algorithm correctly identified an antidepressant drug user as having a depression diagnosis was 79% with a sensitivity of 79.6% and a specificity of 66.9%. Conclusion In conclusion, we developed and validated an algorithm that can be used to compose cohorts of patients treated with antidepressants for depression from prescription databases. Copyright © 2008 John Wiley & Sons, Ltd. [source] Clinical and molecular features of Joubert syndrome and related disorders,AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 4 2009Melissa A. Parisi Abstract Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation of the hindbrain and a broad spectrum of other phenotypic findings that is now known to be caused by defects in the structure and/or function of the primary cilium. The complex hindbrain malformation that is characteristic of JBTS can be identified on axial magnetic resonance imaging and is known as the molar tooth sign (MTS); other diagnostic criteria include intellectual disability, hypotonia, and often, abnormal respiratory pattern and/or abnormal eye movements. In addition, a broad spectrum of other anomalies characterize Joubert syndrome and related disorders (JSRD), and may include retinal dystrophy, ocular coloboma, oral frenulae and tongue tumors, polydactyly, cystic renal disease (including cystic dysplasia or juvenile nephronophthisis), and congenital hepatic fibrosis. The clinical course can be variable, but most children with this condition survive infancy to reach adulthood. At least eight genes cause JSRD, with some genotype,phenotype correlations emerging, including the association between mutations in the MKS3 gene and hepatic fibrosis characteristic of the JSRD subtype known as COACH syndrome. Several of the causative genes for JSRD are implicated in other ciliary disorders, such as juvenile nephronophthisis and Meckel syndrome, illustrating the close association between these conditions and their overlapping clinical features that reflect a shared etiology involving the primary cilium. © 2009 Wiley-Liss, Inc. [source] | |||||||||||||||||||||||||||||||||||||