Cannabinoid receptor gene polymorphisms and cognitive performance in patients with schizophrenia and controls.

OBJECTIVE: To test the hypothesis that genetic variations of cannabinoid receptors contribute to the pathophysiology of cognitive deficits in schizophrenia. METHODS: In this genetic association case-control study, cannabinoid receptor polymorphisms CNR1 rs12720071 and CNR2 rs2229579 were tested for association with neurocognitive performance in 69 patients with schizophrenia and 45 healthy controls. Neurocognition was assessed by the Brief Assessment of Cognition in Schizophrenia (BACS). RESULTS: We found a consistent association between CNR1 rs12720071 polymorphism and the cognitive performance of patients in several cognitive domains. Patients with C/C polymorphism presented significantly worse performance in motor speed, verbal fluency, attention/processing speed and reasoning/problem solving. CONCLUSION: Although limited, our data support the hypothesis that CNR1 variations may be associated with the pathogenesis of cognitive deficits of schizophrenia.

Adiponectin and Stnfr2 peripheral levels are associated with cardiovascular risk in patients with schizophrenia.

OBJECTIVES: To investigate the association between cytokine peripheral levels and the risk of cardiovascular disease in patients with schizophrenia and controls. METHODS: A sample of 40 patients and 40 control subjects participated in the study. Psychiatric diagnosis was established following structured clinical assessment. The Framingham Score was used to assess cardiovascular risk (CVR). Serum levels of the cytokines IL-1ß, IL-6, IL-8, IL-10, IL-12p70 and TNF-α were determined by cytometric bead array (CBA) technique, and the serum levels of IL-33, sST2, sTNFR1, sTNFR2, Leptin and Adiponectin by Enzyme-Linked Immunosorbent assay (ELISA). RESULTS: Patients with schizophrenia showed greater frequency of moderate CVR when compared with controls (p = 0.14). In addition, patients showed higher levels of sTNFR2 and Adiponectin compared to controls (p = 0.007 and p < 0.001, respectively). Adiponectin and sTNFR2 were associated with CVR only in patients (p = 0.0002 and p = 0.033, respectively). In multivariate analysis controlling for socio-demographic and clinical confounders, illness duration (r = 0.492; p < 0.002) and sTNFR2 (r = 0.665; p < 0.004) were independent predictors of CVR. CONCLUSION: Our results reinforce the concept that patients with schizophrenia are at greater risk to develop cardiovascular diseases, and suggest that the associated chronic low-grade inflammation might play a role in this process.

Thyroid autoimmunity in children and adolescents with type 1 diabetes mellitus: prevalence and risk factors.

UNLABELLED: Studies show great variation in prevalence of anti-thyroid antibodies in children with type 1 diabetes mellitus (DM1). There still is no consensus regarding screening of autoimmune thyroiditis in patients with DM1, especially in asymptomatic patients. AIM: To investigate the natural history and prevalence of autoimmune thyroiditis in pediatric patients with DM1 and relate it to potential risk factors. PATIENTS AND METHODS: This study is a historical cohort, through research of the records of 474 patients with DM1 from 9 months to 25 years of age, between 1980 and 2005 - 222 boys (46.8%) and 252 girls (53.2%), with an average duration of DM1 of 9.3 +/- 5.8 years. The sample was selected by having at least one measurement of TSH and anti-thyroid autoantibodies (antithyroperoxidase or anti-microssomal and/or anti-thyroglobulin) at any time from diagnosis of DM1. A questionnaire was answered in order to study the variables of interest for the study. Thyroid function disorder was defined as altered levels of TSH, with or without altered free T4 levels. RESULTS: A total of 383 patients (9 months to 25 years of age) were studied, 199 girls (52%) and 184 boys (48%). Sixty-four (16.7%) had positive anti-thyroid antibodies, predominantly girls (p = 0.064). Average duration of DM1 was 9.3 +/- 5.8 years and those above this age had a higher incidence of thyroiditis (p = 0.01). The prevalence of thyroid function disorder in patients with DM1 was 7.3% (n = 28), mostly with thyroiditis (32.8% vs 2.2% with negative antibodies, p < 0.001). There was a positive association between thyroiditis, as well as thyroid function disorders, and other autoimmune disorders (p < 0.001 and p < 0.02, respectively). CONCLUSIONS: Prevalence of thyroiditis in the diabetic population is considerably higher than in the general population. Annual laboratory determinations of anti-TPO antibodies and dosage of TSH should be part of routine tests in the diabetic population, especially in girls, children with DM1 for > 9 years, patients above 12 years of age, and those in whom DM1 is associated with another autoimmune disease. Anti-thyroid antibody positivity may indicate the necessity for thyroid function testing at shorter intervals.

Cannabinoid receptor gene polymorphisms and cognitive performance in patients with schizophrenia and controls

Objective: To test the hypothesis that genetic variations of cannabinoid receptors contribute to the pathophysiology of cognitive deficits in schizophrenia. Methods: In this genetic association case-control study, cannabinoid receptor polymorphisms CNR1 rs12720071 and CNR2 rs2229579 were tested for association with neurocognitive performance in 69 patients with schizophrenia and 45 healthy controls. Neurocognition was assessed by the Brief Assessment of Cognition in Schizophrenia (BACS). Results: We found a consistent association between CNR1 rs12720071 polymorphism and the cognitive performance of patients in several cognitive domains. Patients with C/C polymorphism presented significantly worse performance in motor speed, verbal fluency, attention/processing speed and reasoning/problem solving. Conclusion: Although limited, our data support the hypothesis that CNR1 variations may be associated with the pathogenesis of cognitive deficits of schizophrenia.

Family burden in schizophrenia: the influence of age of onset and negative symptoms.

OBJECTIVES: To investigate the determinants of family burden in a sample of patients with schizophrenia and their caregivers. METHODS: Thirty-one stable patients with schizophrenia and their main caregivers were recruited. Sociodemographic variables were assessed in a semi-structured interview, and positive and negative symptoms were assessed with the Positive and Negative Syndrome Scale (PANSS). Cognitive performance was assessed with the Schizophrenia Cognition Rating Scale (SCoRS). Levels of burden on caregivers were assessed with the Family Burden Interview Schedule (FBIS). Interactions among variables were analyzed using Pearson correlations and linear regression analysis. RESULTS: Objective and subjective FBIS scores were 1.9 (standard deviation [SD] = 0.5) and 2.4 (SD = 0.6) respectively. Objective burden correlated positively with positive and negative symptoms, and cognitive impairment. Subjective burden correlated positively with positive symptoms and negatively with mean age of disease onset. Positive, negative and cognitive symptoms accounted for 47.6% of the variance of objective burden, with negative symptoms accounting independently for 30.3%. Age of onset, parents as caregivers and positive symptoms accounted for 28% of the variance of subjective burden, with age of onset independently explaining 20.3%. CONCLUSION: Patients' clinical and sociodemographic variables are important determinants of family burden in schizophrenia. Objective burden is predicted by symptoms, particularly negative ones. Subjective burden is predicted by symptoms and sociodemographic variables, particularly age of disease onset.

Functional capacity: a new framework for the assessment of everyday functioning in schizophrenia.

Historically, measures of everyday functioning have focused exclusively on real-world performance. Despite the unquestionable value of "real-world functioning", it has become clear that instruments for its assessment might not be as accurate as desirable. Functional capacity is a domain of everyday functioning that can be assessed through performance-based measures. In the last decade, functional capacity has become a cornerstone for the assessment of everyday functioning, since, alongside measures of real-world functioning, it provides a much more comprehensive picture of functional outcomes than any measurement alone. Functional capacity is more stable and less vulnerable to influence from environmental factors than other domains, and its correlation with cognitive functions has encouraged the Measurement and Treatment Research to Improve Cognition in Schizophrenia (MATRICS) project to suggest that a performance-based measure of functional capacity be included as a co-primary assessment of cognition in clinical trials. Functional capacity assessment instruments may be also useful in the evaluation of remission in schizophrenia. Validation of these instruments in different countries is desirable, and should always include cross-cultural adaptation; within large countries, adjustment for regional variations should be considered.

UCSD Performance-Based Skills Assessment (UPSA): validation of a Brazilian version in patients with schizophrenia.

The UCSD Performance-based Skills Assessment (UPSA) is a measure of Functional Capacity and assesses skills involved in community tasks. It has good psychometrics properties, and is currently recommended as a co-primary assessment of cognition in the MATRICS Project. To our knowledge so far, there are no studies in western developing countries concerning Functional Capacity in Schizophrenia. The aims of this study were to translate, culturally adapt and validate the UPSA to assess Functional Capacity in community-dwelling patients with Schizophrenia living in Brazil. Eighty-two subjects (52 patients, 30 controls) were evaluated using: the Brazilian version of the UPSA (UPSA-1-BR), PANSS, Personal and Social Performance (PSP) and Global Assessment of Functioning (GAF). In the reliability test, UPSA-1-BR showed good Internal Consistency (Cronbach's alpha of 0.88) and strong correlation between test and retest (4-month gap; r = 0.91; p < 0.01). Spearman's rho values showed a moderate correlation between UPSA-1-BR and both PSP (0.50; p < 0.01) and GAF (0.46; p < 0.01) scores. UPSA-1-BR is capable of differentiating people with and without Schizophrenia. Patients scored lower than controls (58.9 versus 79.1), with an AUC of 0.79 (95%IC: 0.69-0.89). Sensitivity and specificity values of 0.71 and 0.70, respectively, were found in the cut-off point of 73.5, for separation of patients and controls, with predictive values of 80% (positive) and 58% (negative). UPSA-B-BR was also evaluated. UPSA-1-BR and its brief version presented adequate psychometric properties and proved to be valid and reliable instruments in the assessment of Functional Capacity in subjects with Schizophrenia.

Functional capacity: a new framework for the assessment of everyday functioning in schizophrenia

Historically, measures of everyday functioning have focused exclusively on real-world performance. Despite the unquestionable value of “real-world functioning”, it has become clear that instruments for its assessment might not be as accurate as desirable. Functional capacity is a domain of everyday functioning that can be assessed through performance-based measures. In the last decade, functional capacity has become a cornerstone for the assessment of everyday functioning, since, alongside measures of real-world functioning, it provides a much more comprehensive picture of functional outcomes than any measurement alone. Functional capacity is more stable and less vulnerable to influence from environmental factors than other domains, and its correlation with cognitive functions has encouraged the Measurement and Treatment Research to Improve Cognition in Schizophrenia (MATRICS) project to suggest that a performance-based measure of functional capacity be included as a co-primary assessment of cognition in clinical trials. Functional capacity assessment instruments may be also useful in the evaluation of remission in schizophrenia. Validation of these instruments in different countries is desirable, and should always include cross-cultural adaptation; within large countries, adjustment for regional variations should be considered.

Management of Fournier's gangrene: experience of a university hospital of Curitiba.

OBJECTIVE: To analyze the results obtained in the Department of General Surgery, Cajuru University Hospital-PUCPR, with the treatment of Fournier's gangrene. METHODS: We reviewed the charts of 40 patients diagnosed with Fournier's gangrene admitted to the Cajuru University Hospital from November 1999 to April 2006, analyzing gender, age, predisposing factors, etiology, lesion location, laboratory tests, surgical procedures, antibiotic use and hyperbaric oxygen therapy. RESULTS: The most common etiology was the anorectal origin. The most prevalent etiological agent was E. coli. The predominant predisposing factor was diabetes mellitus. The majority of patients were male. The location and extent of injury was usually in the perineum. All underwent surgical debridement, 17 with associated colostomy and two with combined cystostomy. All patients received antibiotics, the most used being metronidazole and gentamicin. Twenty-six patients underwent hyperbaric therapy. The overall mortality was 20%. CONCLUSION: Fournier's syndrome, despite all the advances in treatment today, continues to show high mortality rates. Early recognition of infection associated with invasive and aggressive treatment are essential for attempting to reduce these prognostic indices.

Tratamento cirúrgico de pseudoaneurisma de artéria isquiática: relato de caso e revisão da literatura / Surgical treatment of false aneurysm of the sciatic artery: case report and literature review

A persistência da artéria isquiática é uma rara variação anatômica, com poucos casos descritos na literatura, manifestando-se por formação de aneurisma, massa pulsátil em glúteo, isquemia aguda ou crônica de membro inferior e compressão de nervo isquiático. O diagnóstico é confirmado com exames de imagem: mapeamento duplex, angiotomografia e angiorressonância magnética. O tratamento é indicado nos casos sintomáticos ou quando há formação de aneurisma, realizado através de ligadura ou embolização por via endovascular, sendo necessário a revascularização do membro nos casos em que a artéria isquiática é a principal responsável pelo suprimento sangüíneo do membro. Apresentamos o caso de uma paciente do sexo feminino, 43 anos, com pseudoaneurisma de artéria isquiática confirmada por mapeamento duplex e angiorressonância magnética, com quadro de neuropatia isquiática por compressão nervosa e dor local. A paciente foi submetida à exploração cirúrgica com ligadura da artéria isquiática e remoção dos trombos. No seguimento de 12 meses, apresentou importante melhora da dor e realizou fisioterapia motora para recuperação das funções neurológicas do membro.

The persistent sciatic artery is a rare anatomical variation, with few cases described on the literature. It presents clinically as aneurysm formation, pulsate gluteal mass, acute or chronic limb ischemia and sciatic nerve compression. Diagnosis is confirmed by imaging methods: duplex scan, CT angiographt and magnetic resonance angiography. Treatment is indicated in symptomatic cases and when there is aneurysm formation and it is performed by ligation of the sciatic artery or endovascular embolization, associated with limb revascularization in the cases the sciatic artery is the main blood supply to the limb. We report the case of a 43 year-old female patient, ,with a false aneurysm of the sciatic artery confirmed by duplex scan and magnetic resonance angiography who had local pain and sciatic neuropathy due to neural compression. Surgical exploration was performed, with ligation of sciatic artery and thrombus removal. At the 12 months follow up there was significant pain relief and she was performing motor physical therapy to recover the neurological functions of the limb.

Manejo da gangrena de Fournier: experiência de um hospital universitário de Curitiba / Management of Fournier's gangrene: experience of a university hospital of Curitiba

OBJETIVO: Analisar os resultados obtidos no Serviço de Cirurgia Geral do Hospital Universitário Cajuru - PUCPR, com o tratamento da gangrena de Fournier. MÉTODOS: Foram revisados os prontuários de 40 pacientes com diagnóstico de Gangrena de Fournier internados no hospital universitário Cajuru de Novembro de 1999 a Abril de 2006, analisando-se as variáveis: sexo, idade, fatores predisponentes, etiologia, localização da lesão, exames laboratoriais, procedimentos cirúrgicos realizados, antibioticoterapia e utilização de câmara hiperbárica. RESULTADOS: A etiologia mais comum foi de origem anorretal. O agente etiológico mais prevalente foi a E. coli. O fator predisponente predominantes foi a diabetes mellitus, A maioria dos pacientes eram do sexo masculino. A localização e extensão da lesão mais freqüente foi a perineal. Todos foram submetidos à desbridamento cirúrgico, 17 à colostomia e dois à cistostomia. Todos os pacientes utilizaram antibiótico, sendo os mais usados: metronidazol e gentamicina. Vinte e seis pacientes submeteram-se à terapia hiperbárica. A mortalidade global foi de 20%. CONCLUSÃO: A Síndrome de Fournier, apesar de todos os avanços terapêuticos atuais, continua apresentando altos índices de mortalidade. O reconhecimento precoce da infecção associado a tratamento agressivo e invasivo são medidas essenciais para se tentar diminuir esses índices prognósticos.

OBJECTIVE: To analyze the results obtained in the Department of General Surgery, Cajuru University Hospital - PUCPR, with the treatment of Fournier's gangrene. METHODS: We reviewed the charts of 40 patients diagnosed with Fournier's gangrene admitted to the Cajuru University Hospital from November 1999 to April 2006, analyzing gender, age, predisposing factors, etiology, lesion location, laboratory tests , surgical procedures, antibiotic use and hyperbaric oxygen therapy. RESULTS: The most common etiology was the anorectal origin. The most prevalent etiological agent was E. coli. The predominant predisposing factor was diabetes mellitus. The majority of patients were male. The location and extent of injury was usually in the perineum. All underwent surgical debridement, 17 with associated colostomy and two with combined cystostomy. All patients received antibiotics, the most used being metronidazole and gentamicin. Twenty-six patients underwent hyperbaric therapy. The overall mortality was 20%. CONCLUSION: Fournier's syndrome, despite all the advances in treatment today, continues to show high mortality rates. Early recognition of infection associated with invasive and aggressive treatment are essential for attempting to reduce these prognostic indices.

Síndrome de Lemierre: relato de caso / Lemierre syndrome: case report

A síndrome de Lemierre é uma doença rara, mais comum em jovens, causada frequentemente pelo Fusobacterium necrophorum. Inicia-se com faringite e propaga-se até a veia jugular interna, promovendo uma fonte de bacteremia contínua e êmbolos sépticos pulmonares. Manifestações clínicas incluem febre, alterações respiratórias e massa cervical. O diagnóstico é realizado por tomografia computadorizada e duplex scan, além de hemocultura ou cultura direta. O tratamento é realizado com antibióticos beta-lactâmicos resistentes a beta-lactamases, sendo a cirurgia raramente necessária. Paciente do sexo feminino, 34 anos, com quadro de orofaringite, evoluiu em 48 horas com queda do estado geral, febre, aumento de volume e dor em região cervical esquerda...

Lemierre syndrome is a rare disease. It often affects young adults and is most frequently caused by Fusobacterium necrophorum. The initial event is pharyngitis, which extends to the internal jugular vein, serving as source of continuous bacteremia and septic pulmonary emboli. Clinical manifestations include fever, respiratory distress, and swollen cervical lymph nodes. Diagnosis is established based on blood culture or direct blood culture and confirmed by computed tomography and/or duplex scan. Treatment consists of administration of beta-lactamase resistant beta-lactam antibiotics...