Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 66
Filtrar
1.
Psychiatriki ; 33(2): 124-138, 2022 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-34052789

RESUMO

In this work 112 studies were reviewed and 21 of them were considered as more reliable and more credible. It is well known that Cognitive-Behavioural Therapy (CBT) is the most valid approach regarding its effectiveness. There are many variations of CBT used in patients with tinnitus, but the most effective appears to be the Cognitive-Behavioural Acceptance and Commitment Therapy. Also, treatment-variations consist in the use of hearing aids, and psycho-education. The Acceptance and Commitment Therapy is a third-generation psychological intervention invented by Steven Hayes in 1986. This therapy also applies to the treatment of many psychological problems, such as depression, anxiety, psychoses and substance use problems, and chronic diseases. The purpose of this therapy is not to reduce symptoms, but to improve health and behaviour changes in order for the patient to accept the inevitable pain involved in his/her condition. There are other forms of therapy that come from the broader spectrum of CBT, such as book-therapy (self-help method), rehabilitation treatment of tinnitus, and the Axiological Model based solely on cognitive psychotherapy inspired by the CBT founder, Aaron Beck. Because the latter treatment is at its first steps, there is no literature yet, and it must be considered as an experimental model. It is also well known that intervention with CBT could significantly reduce the anxiety and stress caused by tinnitus. The CBT technique incorporates many elements used to treat tinnitus, such as self-assessment, applied relaxation, cognitive restructuring, behavioral activation, and positive mental imagery. Finally, it becomes apparent that the tinnitus problem, which is serious for these patients, is increasingly affecting the psychiatric and psychotherapeutic communities.


Assuntos
Terapia de Aceitação e Compromisso , Terapia Cognitivo-Comportamental , Zumbido , Transtornos de Ansiedade , Cognição , Terapia Cognitivo-Comportamental/métodos , Feminino , Humanos , Masculino , Zumbido/psicologia , Zumbido/terapia
2.
Eat Weight Disord ; 26(4): 1139-1147, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-32948998

RESUMO

PURPOSE: Resilience can be defined as the ability to maintain health in the face of adversity. Resilience has been associated with personality traits. Personality traits in the context of Eating Disorders (ED) have also been examined. However, the relationship between resilience and personality profile in patients with ED has not been studied. The aim of this study is to investigate whether personality dimensions impact on resilience, in patients with ED, compared to healthy participants. METHODS: Connor and Davidson resilience scale, as a measure of resilience and temperament-character inventory, as a measure of personality dimensions, were completed by 100 participants: 50 (50%) healthy University students (controls subgroup) and 50 (50%) patients with ED, matched on age and gender. RESULTS: Patients with ED showed lower resilience than healthy participants and scored higher on harm avoidance, and lower on reward dependence, self-directedness and cooperativeness than controls. Lower harm avoidance, higher persistence and higher self-directedness were associated with resilience in both subgroups. Self-directedness and persistence predicted resilience in both subgroups. Only Harm Avoidance predicted resilience in patients' subgroup. CONCLUSION: To our knowledge, there are no existing data examining the effect of personality dimensions in resilience, in the context of ED. We found that only the effect of Harm Avoidance in resilience was different among the participants' subgroups. In conclusion, Harm Avoidance could explain differences in resilience between healthy participants and patients with ED. LEVEL OF EVIDENCE: Level III: case-control analytic study.


Assuntos
Caráter , Transtornos da Alimentação e da Ingestão de Alimentos , Humanos , Personalidade , Transtornos da Personalidade , Inventário de Personalidade , Temperamento
3.
Mol Clin Oncol ; 12(3): 208-211, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32064096

RESUMO

There is increasing evidence to suggest an association between depression and inflammation, with patients suffering from immune mediated-disorders exhibiting higher levels of depression. Inflammation in depression is a potential target for the development of novel treatment strategies. The present study presents a clinical case in which a patient with an underlying inflammatory condition acutely developed a severe depressive episode resulting in a sudden, dramatic change in their clinical picture. This case, with no similar case reports being in the literature thus far, at least to the best of our knowledge, highlights the increasing consideration that there may be a causative role between neuro-inflammation and depression. This study reports the case of a 40-year-old male with acute lymphoblastic leukaemia (ALL) and no previous psychiatric history, who developed an acute onset of a severe depressive episode in the context of the immune-mediated graft-versus-host disease (GVHD). GVHD is a complication of allogeneic hematopoietic cell transplantation, which the patient had undergone, for the treatment of his ALL. The rapid onset of depression could be explained by the neuroinflammatory processes occurring in GVHD. This provides a clinical example for the possible role of the immune system in depression, and clinicians should be aware of this association.

4.
Neuropsychobiology ; 78(2): 79-85, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31096213

RESUMO

BACKGROUND: Alzheimer's disease (AD) is a neurodegenerative disorder accounting for 60-70% of dementia cases. Genetic origin accounts for 49-79% of disease risk. This paper aims to investigate the association of 17 polymorphisms within 7 genes involved in neurotransmission (COMT, HTR2A, PPP3CC, RORA, SIGMAR1, SIRT1, and SORBS3) and AD. METHODS: A Greek and an Italian sample were investigated, for a total of 156 AD subjects and 301 healthy controls. Exploratory analyses on psychosis and depression comorbidities were performed, as well as on other available clinical and serological parameters. RESULTS: AD was associated with rs4680 within the COMT gene in the total sample. Trends of association were found in the 2 subsamples. Some nominal associations were found for the depressive phenotype. rs10997871 and rs10997875 within SIRT1 were nominally associated with depression in the total sample and in the Greek subsample. rs174696 within COMT was associated with depression comorbidity in the Italian subsample. DISCUSSION: Our data support the role of COMT, and particularly of rs4680, in the pathogenesis of AD. Furthermore, the SIRT1 gene seems to modulate depressive symptomatology in the AD population.


Assuntos
Doença de Alzheimer/epidemiologia , Doença de Alzheimer/genética , Catecol O-Metiltransferase/genética , Inflamação/epidemiologia , Transtornos Mentais/epidemiologia , Transtornos Mentais/genética , Sirtuína 1/genética , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Comorbidade , Feminino , Predisposição Genética para Doença/genética , Grécia/epidemiologia , Humanos , Inflamação/genética , Itália/epidemiologia , Masculino , Polimorfismo de Nucleotídeo Único/genética , Transmissão Sináptica/genética
5.
In Vivo ; 32(6): 1629-1634, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30348726

RESUMO

BACKGROUND/AIM: To evaluate psychometric properties of the Connor and Davidson Resilience Scale (CD-RISC) in a Greek population. MATERIALS AND METHODS: Internal consistency and test-retest reliability were measured. Global Assessment of Functioning Scale (GAF), World Health Organization Quality of Life (WHOQOL) questionnaire, Perceived Stress Scale (PSS) and General Health Questionnaire (GHQ) were used as measures for convergent reliability. Factors were extracted by using exploratory factor analysis (EFA). A total of 546 subjects (244 healthy individuals and 302 psychiatric patients) were recruited. RESULTS: The scale showed excellent internal consistency (Cronbach's alpha=0.925), as well as excellent test-retest reliability (intra-class correlation coefficient=0.925). CD-RISC scores were positively correlated to GAF and WHOQOL scores, while being negatively correlated to PSS and GHQ scores, establishing adequate convergent validity. We decided on a model with four factors, in order to form sub-scales that measure different, but related aspects of resilience. CONCLUSION: CD-RISC is a reliable and valid measure of resilience and can be used for clinical and research aims in the Greek population.


Assuntos
Psicometria , Resiliência Psicológica , Adulto , Feminino , Grécia , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Inquéritos e Questionários , Organização Mundial da Saúde
6.
In Vivo ; 31(1): 141-143, 2017 01 02.
Artigo em Inglês | MEDLINE | ID: mdl-28064233

RESUMO

BACKGROUND: Clozapine is a second-generation antipsychotic drug used in treatment-resistant schizophrenia. Fever induced by clozapine is a rather frequent side-effect which usually occurs in the first 4 weeks of treatment. Despite its effectiveness, there are potentially life-threatening adverse effects, such as cardiotoxicity. CASE REPORT: We present the case of a 31-year-old caucasian male with refractory schizophrenia who developed benign fever, increase of C-reactive protein and high troponin levels, without presenting any other signs to myocarditis, on the 13th day under clozapine treatment, which declined progressively upon discontinuation of the drug. DISCUSSION: This case hints at the presence of initially subclinical cardiotoxicity as an underlying factor in patients developing fever. CONCLUSION: Taking advantage of more sensitive methods for measuring troponin, clinicians would be promptly aware of this possible side-effect. This would allow for significant reduction of the risk of cardiac dysfunction, further attained by carefully monitoring the patient.


Assuntos
Antipsicóticos/efeitos adversos , Autoimunidade/efeitos dos fármacos , Cardiotoxicidade/etiologia , Clozapina/efeitos adversos , Febre/induzido quimicamente , Esquizofrenia/tratamento farmacológico , Adulto , Eletrocardiografia , Humanos , Masculino
8.
J Neurol Sci ; 370: 162-166, 2016 11 15.
Artigo em Inglês | MEDLINE | ID: mdl-27772752

RESUMO

INTRODUCTION: With the increase of the population's average age, Alzheimer's disease (AD) is becoming one of the most disabling diseases worldwide. Recently, neurodevelopment processes have been involved in the AD etiopathogenesis. Genetic studies in this field could contribute to our knowledge and suggest new molecular targets for possible treatments. METHODS: Our primary aim was to investigate the associations among single nucleotide polymorphisms (SNPs) within neurodevelopment related genes (BDNF, ST8SIA2, C15orf32, NCAPG2, ESYT2, WDR60, LOC154822, VIPR2, GSK3B, NR1I2, ZNF804A, SP4) and AD. A number of exploratory analyses was also performed to evaluate the associations with the presence of behavioral and psychiatric symptoms of dementia (BPSD), as well as with variations in hematological parameters. Two independent samples were investigated, one of 228 Greek subjects and one sample of 229 Italian subjects, including 156Alzheimer's Disease patients CE patients and 301 healthy controls. All patients were affected by late onset AD (LOAD). RESULTS: None of the analyzed SNPs was associated with AD in our samples. In the exploratory analyses, several genetic variants were associated with inflammation parameters in the Greek sample and in the merged one, suggesting a relationship among these genes and the modulation of inflammation and the immune response. Other exploratory analyses showed associations among several SNPs and psychiatric symptomatology in the Greek sample, suggesting a possible modulation of these variants on psychiatric comorbidities in AD. CONCLUSIONS: Although we failed to find a direct relationship between AD and the genetic variants investigated, possible connections with inflammation and psychiatric symptoms were suggested.


Assuntos
Doença de Alzheimer/genética , Doença de Alzheimer/imunologia , Transtornos Mentais/complicações , Transtornos Mentais/genética , Polimorfismo de Nucleotídeo Único , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/complicações , Doença de Alzheimer/psicologia , Comorbidade , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Grécia , Humanos , Itália , Masculino , Transtornos Mentais/imunologia , Entrevista Psiquiátrica Padronizada , Escalas de Graduação Psiquiátrica
9.
BMC Neurol ; 16: 101, 2016 Jul 13.
Artigo em Inglês | MEDLINE | ID: mdl-27411373

RESUMO

BACKGROUND: Patients suffering from several neurologic disorders may bear the "stigma" of their disease, being disqualified from full social acceptance. Although stigma is considered to be present in Multiple Sclerosis (MS), the factors that influence its levels are ambiguous. Aim of our study was to examine, for the first time in the literature, the basic determinants of stigma in a Hellenic MS-patients cohort, as well as how stigma affects their Quality-of-Life (QoL) profiles. METHODS: Three hundred forty two patients were recruited in this study. Data collected concerned sociodemographic and disease-related variables, mental illness assessment, Multiple-Sclerosis-QoL-54 (MSQoL-54) and Stigma-Scale-for-Chronic-Illness-24 (SSCI-24) questionnaires. Potential determinants were evaluated with univariate statistical analyses for their contribution to total, internalized (inner-self derived) and externalized (society derived) stigma. Important findings were further evaluated on hierarchical regression models. RESULTS: Disability levels were found to be the most powerful predictor in all stigma categories, followed by the presence of mental illness. Working and caregiving status were also ascertained as determinants of internalized stigma. Stigma levels displayed strong negative correlation with all composites of MSQoL-54. CONCLUSIONS: Stigma is present in the social environment of MS patients and was confirmed as a barrier (according to the International Classification of Functioning, Disability and Health), with detrimental effects on their QoL levels and functioning performances. Disability and mental illness were shown as the principal determinants of stigma, while financial characteristics were not as equally involved. Further validation of these results in other MS populations may provide safer conclusions, towards more efficacious patient-centered care outcomes.


Assuntos
Esclerose Múltipla/psicologia , Qualidade de Vida , Estigma Social , Adulto , Idoso , Estudos Transversais , Feminino , Humanos , Masculino , Transtornos Mentais/epidemiologia , Pessoa de Meia-Idade , Inquéritos e Questionários
10.
In Vivo ; 29(5): 529-31, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26359410

RESUMO

Acute pancreatitis can be attributed to numerous potential causes, such as alcohol abuse, chololithiasis, infection, lesions, tumors, hypercalcemia, hyperlipidemia, and medications. Among psychotropic medications, the use of some atypical antipsychotics, such as clozapine, olanzapine, quetiapine and risperidone, has been implicated in the development of acute pancreatitis, although the underlying mechanism has not been clarified. We describe the case of a young man with no other major medical problems, alcohol abuse or predisposing factors, who developed acute necrotizing pancreatitis following olanzapine administration, possibly through severe elevation of serum triglycerides. A pharmacogenomic analysis revealed the presence of the 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled (HTR2C) -759C genotype which is related to increased risk for metabolic syndrome.


Assuntos
Alelos , Antipsicóticos/efeitos adversos , Benzodiazepinas/efeitos adversos , Haplótipos , Pancreatite Necrosante Aguda/etiologia , Polimorfismo de Nucleotídeo Único , Receptor 5-HT2C de Serotonina/genética , Antipsicóticos/uso terapêutico , Benzodiazepinas/uso terapêutico , Substituição de Medicamentos , Humanos , Masculino , Olanzapina , Pancreatite Necrosante Aguda/diagnóstico , Esquizofrenia/complicações , Esquizofrenia/tratamento farmacológico , Resultado do Tratamento , Adulto Jovem
11.
Ann Gen Psychiatry ; 14: 7, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25694790

RESUMO

Dromokaition Psychiatric Hospital opened its doors in 1887, following the donation made by Zorzis Dromokaitis from the island of Chios. Private donations and all forms of charities had contributed to a large extent in the establishment of hospitals across Greece, during the late 19th and the early 20th century. Dromokaition was one of them but it was also unique, as it was the first psychiatric hospital in Athens, admitting patients from every part of the country. This paper aimed at highlighting the long service of the institution through the different historical periods the country went through. We present the chronicle of its foundation, the development of its inner structure, and the medical and organizational influences which it received, along the way. The therapeutic methods used during the first decades of its operation reflected the corresponding European standards of the time. As a model institution from its foundation, it followed closely the prevailing European guidelines, throughout its historical path, either as an independent institution or as an integrated one within the National Health Service.

12.
In Vivo ; 28(6): 1175-9, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25398819

RESUMO

BACKGROUND: The alterations of total nitric oxide (NO) (through total nitrite/nitrate) and inducible nitric oxide synthase (iNOS) concentrations were determined in a population of alcohol-dependent individuals without liver disease upon admission for detoxification, two weeks later and after completion of detoxification (4-6 weeks in total). MATERIALS AND METHODS: Thirty-eight men and nine women were included in the study. Endogenous nitrite and total nitrite/nitrate concentrations were measured colorimetrically and iNOS concentration was measured by enzyme-linked immunosorbent assay (ELISA). RESULTS: Endogenous and total nitrite concentrations were found to be diagnostically equally conclusive, whereas iNOS values were not correlated with the other two parameters. All three parameters were significantly higher in alcohol-dependent individuals compared to controls at all time points. CONCLUSION: The preventive therapeutic use of iNOS inhibitors in alcohol-dependent individuals might avoid the injurious effects of chronic alcohol abuse, and should be a matter of further investigation.


Assuntos
Alcoolismo/metabolismo , Alcoolismo/terapia , Óxido Nítrico Sintase Tipo II/metabolismo , Óxido Nítrico/metabolismo , Adulto , Idoso , Feminino , Humanos , Testes de Função Hepática , Masculino , Pessoa de Meia-Idade , Adulto Jovem
13.
In Vivo ; 28(2): 243-7, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24632980

RESUMO

BACKGROUND: Attitudes of patients, their relatives and caregivers toward psychosocial interventions have been identified through different studies. However, the attitudes of psychiatrists have not been documented in Greece. AIM: (i) To document the attitudes of psychiatrists toward psychosocial interventions for patients with schizophrenia. (ii) To identify their knowledge regarding ongoing programs, as well as their opinion on the availability of organized support structures. MATERIALS AND METHODS: A two-phase qualitative study was carried-out in representative regions of Greece. A questionnaire was administered to 26 randomly-selected psychiatrists in private practice in the context of an online survey about schizophrenia (PONTE). RESULTS: All respondents considered the role of the family as being critical and the majority (80%) highlighted the efficacy of family counseling among the psychosocial therapeutic strategies. Half of the psychiatrists reported an ineffective information network on support programs, and most of the respondents (73%) considered the available psychosocial support programs to be insufficient. CONCLUSION: An insufficient network of organized support structures for patients with schizophrenia is reported by Greek psychiatrists. There is consensus for the need to involve family members during psychosocial treatment.


Assuntos
Atitude do Pessoal de Saúde , Saúde Mental , Prática Privada , Psiquiatria , Esquizofrenia/epidemiologia , Feminino , Grécia/epidemiologia , Inquéritos Epidemiológicos , Humanos , Masculino , Pesquisa Qualitativa , Fatores de Risco , Inquéritos e Questionários
14.
PLoS One ; 9(2): e87997, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24551075

RESUMO

BACKGROUND: Schizophrenia is associated with structural and functional abnormalities of the hippocampus, which have been suggested to play an important role in the formation and emergence of schizophrenia syndrome. Patients with schizophrenia exhibit significant bilateral hippocampal volume reduction and progressive hippocampal volume decrease in first-episode patients with schizophrenia has been shown in many neuroimaging studies. Dysfunction of the neurotrophic system has been implicated in the pathophysiology of schizophrenia. The initiation of antipsychotic medication alters the levels of serum Brain Derived Neurotrophic Factor (BDNF) levels. However it is unclear whether treatment with antipsychotics is associated with alterations of hippocampal volume and BDNF levels. METHODS: In the present longitudinal study we investigated the association between serum BDNF levels and hippocampal volumes in a sample of fourteen first-episode drug-naïve patients with schizophrenia (FEP). MRI scans, BDNF and clinical measurements were performed twice: at baseline before the initiation of antipsychotic treatment and 8 months later, while the patients were receiving monotherapy with second generation antipsychotics (SGAs). RESULTS: We found that left hippocampal volume was decreased (corrected left HV [t = 2.977, df = 13, p = .011] at follow-up; We also found that the higher the BDNF levels change the higher were the differences of corrected left hippocampus after 8 months of treatment with atypical antipsychotics (Pearson r = 0.597, p = 0.024). CONCLUSIONS: The association of BDNF with hippocampal volume alterations in schizophrenia merits further investigation and replication in larger longitudinal studies.


Assuntos
Antipsicóticos/uso terapêutico , Fator Neurotrófico Derivado do Encéfalo/sangue , Hipocampo/patologia , Esquizofrenia/patologia , Adulto , Fator Neurotrófico Derivado do Encéfalo/genética , Feminino , Expressão Gênica , Hipocampo/efeitos dos fármacos , Hipocampo/metabolismo , Humanos , Estudos Longitudinais , Imageamento por Ressonância Magnética , Masculino , Esquizofrenia/sangue , Esquizofrenia/tratamento farmacológico
16.
In Vivo ; 27(5): 651-3, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23988901

RESUMO

BACKGROUND: Acute eosinophilic pneumonia (AEP) is a severe syndrome which can be induced for many reasons, including drugs. AEP has rarely been associated with first-generation antipsychotics and never been reported after use of second-generation antipsychotics, such as risperidone. CASE REPORT: We report a case of a 64-year-old man with a medical history of alchoholism and paranoid symptoms, treated with risperidone at low doses. Following risperidone medication, he presented with respiratory distress. Bronchoalveolar lavage (BAL) specimen was indicated of AEP. All evidence indicated risperidone as the most probable causal factor. The syndrome rapidly resolved after discontinuation of the drug. DISCUSSION: Pathophysiological mechanisms implicated in the development of AEP in our patient seem to be associated with eotaxin and serotonin eosinophilic-specific chemoattracting action, through the serotoninergic action of risperidone. CONCLUSION: To our knowledge, this is the first case report of a clinical adverse reaction of AEP from an atypical antipsychotic agent (risperidone).


Assuntos
Antipsicóticos/efeitos adversos , Eosinofilia Pulmonar/induzido quimicamente , Risperidona/efeitos adversos , Doença Aguda , Humanos , Masculino , Pessoa de Meia-Idade , Eosinofilia Pulmonar/diagnóstico
17.
J Neural Transm (Vienna) ; 120(12): 1709-15, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23712749

RESUMO

Among the several genes associated with late-onset Alzheimer's disease (LOAD), recently, Sirtuin genes have roused a growing interest because of their involvement in metabolic homeostasis and in brain aging. Particularly SIRT2 gene has been associated with Alzheimer's disease (AD) as well as with mood disorders. The aim of this study is to investigate the possible associations between Sirtuin 2 gene (SIRT2) rs10410544 polymorphism and AD as well as depression in AD. In addition, we performed some exploratory analyses to investigate possible associations between the rs10410544 genotype and clinical features. We investigated these associations in two independent samples: the first one was composed of 275 Greek inhabitants and 117 patients; the second sample counted 181 Italian people and 43 patients. All patients were affected by LOAD. We failed to find any association between rs10410544 genotype and AD in the two samples. On the other hand, we found an association between the single nucleotide polymorphism (SNP) and depressive symptomatology (in the total sample p = 0.002), which was modulated by the tumor necrosis factor (TNF) values. Particularly, TT genotype seems to be protective versus depression. Finally, in the exploratory analyses, we found that the TT genotype was associated with earlier AD onset and a longer duration of the illness. In conclusion, we confirmed the association between SIRT2 gene and mood disturbances, although in AD patients. Further, we provided evidence that the TT genotype may be protective versus depressive symptoms, allowing an easier and thus earlier diagnosis of AD. This awareness may lead to a more detailed approach to these patients concerning diagnosis and therapy.


Assuntos
Doença de Alzheimer/complicações , Doença de Alzheimer/genética , Depressão/etiologia , Depressão/genética , Polimorfismo de Nucleotídeo Único/genética , Sirtuína 2/genética , Idoso , Idoso de 80 Anos ou mais , Análise de Variância , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Grécia , Humanos , Itália , Masculino , Escalas de Graduação Psiquiátrica
18.
Curr Alzheimer Res ; 10(2): 154-64, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23463934

RESUMO

It was suggested that the gene encoding for sorLa, (SORL1) may affect Alzheimer's disease (LOAD) through a female-specific mechanism. The aims of this study were to confirm the role of gender in modulating the association between SORL1 and LOAD and to ascertain the influence of SORL1 on cognitive impairment, neuropsychiatric symptoms (BPSD) and secretion of pro-inflammatory cytokines. Ninety six outpatients with LOAD and 120 unrelated controls were genotyped for APOE and three SNPs at the 5' end of SORL1(intron 6): SNP 8 (rs668387); SNP 9 (rs68902); SNP 10 (rs641120). Clinical evaluation was made with the MMSE, Neuropsychiatric Inventory (NPI) and Cornell Scale for Depression in Dementia (CDDS). ELISPOT assays were used to measure pro-inflammatory cytokine (TNF-alpha; IL-6; IL-1beta; IFN-gamma) production in peripheral blood mononuclear cell (PBMC) supernatant from AD patients. SORL1 SNPs were not associated with LOAD in overall sample. Instead the G-alleles at SNPs 9 (p=0.015) and 10 (p=0.015) and the CGG haplotype (p=0.02) were associated with LOAD in the women subgroup. The TAA haplotype was marginally protective in AD patients being associated with lower BPSD scores (p=0.01). The same haplotype was also associated with higher IL-1beta (p=0.01) production. These genetic effects were not modified by APOE4 allele and controlled for illness duration and treatment. In conclusion, SORL1 does not appear to be a major risk factor for LOAD. Its contribution could be underestimated in our small sample. Sex-specific factors could modulate the association between SORL1 and AD. The influence of SORL1 variants on production of inflammatory cytokines warrants further investigation.


Assuntos
Doença de Alzheimer , Transtornos Cognitivos/etiologia , Citocinas/metabolismo , Predisposição Genética para Doença , Proteínas Relacionadas a Receptor de LDL/genética , Proteínas de Membrana Transportadoras/genética , Caracteres Sexuais , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/complicações , Doença de Alzheimer/genética , Doença de Alzheimer/imunologia , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Transtornos Cognitivos/genética , Feminino , Estudos de Associação Genética , Humanos , Masculino , Testes Neuropsicológicos , Polimorfismo Genético/genética , Escalas de Graduação Psiquiátrica
19.
Alcohol Clin Exp Res ; 37(2): 244-51, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23009036

RESUMO

BACKGROUND: The incidence and severity of alcoholic liver disease (ALD) in chronic drinkers has been found to correlate with some environmental factors and especially with the dose of alcohol consumption, but it is obvious that other parameters clearly contribute to individual alcohol susceptibility. Chronic ethanol exposure leads to continuous endotoxin-mediated Toll-like receptor-4 (TLR-4) and CD14 activation and subsequent cytokine release resulting in chronic inflammation with continued hepatocellular damage. Therefore, genetic studies of polymorphism in TLR-4 and CD14 genes seem to be appropriate in determining genetic susceptibility to ALD. Our aim is to evaluate in a series of Greek drinkers, the possible association of polymorphisms in the TLR-4 and CD14 genes with ALD. METHODS: In 96 patients with ALD polymorphism of TLR-4 and CD14 genes were studied compared with 104 patients with cirrhosis of other etiology, 100 healthy subjects, and 50 patients with a history of alcohol abuse but without liver disease. RESULTS: No association between ALD and the presence of the Asp299Gly and Thr399Ile polymorphisms in the TLR-4 gene could be documented in our patients. Regarding the CD14 -159 (C/T) genotypes, TT genotype and T allele were found to be overrepresented in alcoholic patients compared with patients with nonalcohol-induced liver disease and healthy controls. On the other side, when compared patients with ALD and patients with alcohol abuse and no liver disease, TT genotype was found to be significantly less frequent. There is no statistically significant association with the presence of the T allele and the severity of ALD, suggesting that CD14 polymorphism does not influence disease severity in advanced stages of the disease. CONCLUSIONS: In our series in Greek patients with alcohol abuse and alcoholic cirrhosis, a significant negative association with the CD14 endotoxin receptor gene polymorphism (TT genotype) but not with the TLR-4 gene polymorphism was documented.


Assuntos
Predisposição Genética para Doença/genética , Receptores de Lipopolissacarídeos/genética , Hepatopatias Alcoólicas/genética , Polimorfismo de Nucleotídeo Único/genética , Receptor 4 Toll-Like/genética , Alcoolismo/genética , Alelos , Estudos de Casos e Controles , Feminino , Estudos de Associação Genética , Genótipo , Grécia , Humanos , Cirrose Hepática Alcoólica/genética , Masculino , Pessoa de Meia-Idade
20.
Curr Alzheimer Res ; 9(4): 491-9, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22044026

RESUMO

The pathophysiology of Alzheimer's disease (AD) is influenced by sorting-protein related receptor (sorLa) that is less expressed in AD patients. The gene encoding sorLa (SORL1) has been investigated as a susceptibility factor for late-onset AD (LOAD) with conflicting results. Our objectives were to confirm the association between SORL1 SNPs and LOAD in two independent South-European centers and to perform a mega-analysis of published samples. We analyzed three SORL1 SNPs (intron 6: rs668387; rs689021; rs641120) from the Greece-Italy Genetic Association Study on lateonset AD (GIGAS_LOAD). Greek sample included 96 patients with LOAD (DSM-IV) and 120 unrelated controls. In Italy, a community-based sample is ongoing. 47 LOAD patients and 165 controls were recruited until study endpoint. These samples and previously published ones (Alzgene) were pooled as in a single study. A test for trend was used to analyze genotype association. In the GIGAS_LOAD sample no association was detected between SORL1 genotypes and LOAD. Conversely all SNPs were associated with LOAD in mega-analysis based on ordinal classification of genotypes (Armitage's test: p < 0.001). Although our analysis of pooled samples has positive results for the association between SORL1 and AD, there is substantial heterogeneity across studies. Thus further examination into SORL1 SNPs and the population is necessary to determine the role of SORL1 in LOAD.


Assuntos
Doença de Alzheimer/genética , Predisposição Genética para Doença , Proteínas Relacionadas a Receptor de LDL/genética , Proteínas de Membrana Transportadoras/genética , Polimorfismo de Nucleotídeo Único/genética , Idoso , Idoso de 80 Anos ou mais , Feminino , Frequência do Gene , Estudos de Associação Genética , Genótipo , Grécia , Humanos , Cooperação Internacional , Itália , Masculino
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...