When Addressing Trauma Makes a Difference: A Case Report of Undiagnosed Complex Post-traumatic Stress Disorder.

Complex post-traumatic stress disorder (C-PTSD) is an emergent diagnosis, which acknowledges the impact of prolonged interpersonal abuse on affect regulation, interpersonal functioning, and self-concept. We present the case of a 59-year-old woman who remained undiagnosed and untreated for this condition for three decades while under follow-up in mental health services for the diagnosis of personality disorder and bipolar disorder. The patient suffered repeated sexual abuse in her childhood, resulting in intrusive traumatic memories she emotionally and cognitively avoided, dissociative amnesia, a persistent inability to experience positive emotions, a persistent sense of guilt, re-experiencing phenomena, and hypervigilance toward others and their intentions to harm her. She persistently believed herself to be worthless, defective, inferior, and lacking value; had a history of affective dysregulation resulting in suspicion of bipolar disorder; and displayed a pattern of relationship avoidance. Addressing chronic trauma and assessing its impact offered deeper contextualization of the patient's symptoms and proved pivotal in redefining her diagnosis and providing access to trauma-focused psychotherapy, which is the mainstay of treatment for C-PTSD.

Methadone Withdrawal-Related Psychosis in a Patient With Hormone-Dependent Breast Cancer: A Case Report.

Methadone withdrawal usually presents as a classical opiate withdrawal syndrome, including symptoms such as restlessness, pupillary dilation, sweating, insomnia, irritability, sneezing, nausea, vomiting, and diarrhea. It rarely manifests as psychosis. Here, we discuss the case of a 43-year-old female with a history of long-term methadone use who presented with first-episode psychosis during methadone down-titration. She exhibited persecutory delusions and auditory hallucinations, unrelated to classical opiate withdrawal symptoms. Medical tests were unremarkable. The patient was diagnosed with first-episode psychosis and was involuntarily admitted to our psychiatric hospital. As she suffered from hormone-dependent breast cancer and presented paliperidone-induced hyperprolactinemia, we switched this drug to aripiprazole, a prolactin-sparing antipsychotic. Her psychotic symptoms remitted in six weeks, with no reintroduction of methadone. It remains unclear whether this presentation is attributable to a rare manifestation of withdrawal or methadone's antipsychotic properties, masking an underlying psychotic disorder. This case contributes to understanding psychosis emergence post-opioid withdrawal, underscoring the need for further investigation into withdrawal-related psychosis and opioid antipsychotic properties. It also prompts the discussion of antipsychotic treatment in patients with comorbid breast cancer, while evidence about hyperprolactinemia as a risk factor for breast cancer remains conflicting.

Comorbidities Might Condition the Recovery of Quality of Life in Survivors of Sepsis.

PURPOSE:: To assess how preexisting disabling comorbidities (DC) affect the recovery rate of quality of life (QOL) over time in sepsis survivors. METHODS:: A prospective study was conducted on sepsis survivors who answered the 36-Item Short Form Health Survey (SF-36) 7 days after discharge from the intensive care unit. Subsequent interviews were held at 3, 6, and 12 months. The results of the physical component score (PCS) and mental component score (MCS) of the SF-36 were evaluated. Patients were divided into 2 groups to compare patients with DC (DC group) and without DC (no-DC group). Quantile regression was used to model changes in PCS and MCS between different time points. RESULTS:: Seventy-nine sepsis survivors were enrolled. After controlling for baseline age and QOL, the QOL scores were lower among patients with DC than in no-DC patients. The QOL of DC group got worse when compared to no-DC group. Recovery rate of PCS and MCS was higher in the DC group than in the no-DC group (PCS: 20.51 vs 16.96, P < .01; MCS: 19.24 vs 9.66, P < .01). Their baseline QOL was recovered only by 6 months after the sepsis episode. CONCLUSION:: Quality-of-life impairment and its recovery rhythm in patients with sepsis appear to be conditioned by coexisting DC.

The impact of laparoscopic surgery in colorectal cancer resection with respect to the development of liver metastasis in the long-term / Impacto da cirurgia videolaparoscópica em ressecções de câncer colorretal quanto ao desenvolvimento de metástases hepáticas a longo prazo

INTRODUCTION: Colorectal cancer (CRC) shows high incidence and mortality worldwide, particularly in Western and developed countries. The objective of this study is to evaluate the oncologic results during a minimum follow-up of 2 years of curable CRC patients submitted to laparoscopic resection in our environment, regarding to the development of hepatic metastases. METHODS: Medical records of 189 colon and rectal patients with potentially curable adenocarcinoma who have been submitted to laparoscopic resection have been reviewed through a retrospective cohort between January 2005 and March 2012 at a single institution regarded as reference to this type of treatment. Pearson's X² and Long-rank tests have been used for statistical analysis and data was analyzed by statistic package STATA version 11.0. RESULTS: The eligible population for the study was 146 patients, 91 women (62%), with a mean age of 61 ± 13 years. Minimum follow-up was 24 months, having an mean follow-up of 60 ± 27 months and an mean follow-up of global disease recurrence of 27 ± 11 months. Hepatic metastases occurred in 7.5% of the population, most from stage III, and the mean recurrence period was 25 ± 16 months. CONCLUSIONS: Laparoscopic resection for potentially curable CRC in this cohort did not change the long-term incidence of hepatic metastases, considering that our results are comparable to large randomized clinical trial results. Laparoscopic resection was effective and safe for analyzed patients, regarding long-term oncologic results.

INTRODUÇÃO: O câncer colorretal (CCR) apresenta elevada incidência e mortalidade mundial, especialmente nos países ocidentais e desenvolvidos. O objetivo deste estudo é avaliar, durante um seguimento mínimo de 2 anos, pacientes com CCR potencialmente curável submetidos a ressecções laparoscópicas, em relação ao surgimento de metástases hepáticas. MÉTODOS: Através de coorte retrospectiva foram revisados os prontuários de 189 portadores de adenocarcinoma de cólon e reto potencialmente curáveis, submetidos a ressecção laparoscópica entre janeiro de 2005 e março de 2012, numa única instituição considerada de referência neste tipo de tratamento. Para análise estatística foram usados o teste X² de Pearson e o teste Log-rank, e os dados foram analisados pelo pacote estatístico STATA versão 11.0. RESULTADOS: A população elegível do estudo foi de 146 pacientes, sendo 91 mulheres (62%), com idade média de 61 ± 13 anos. O seguimento mínimo foi de 24 meses, sendo o tempo médio de seguimento de 60 ± 27 meses, e o tempo médio de recorrência global da doença de 27 ± 11 meses. Metástases hepáticas ocorreram em 7,5% da população, a maioria proveniente do estadio III, e o tempo médio de recorrência no fígado foi de 25 ± 16 meses. CONCLUSÕES: Para esta coorte a ressecção do CCR potencialmente curável por via laparoscópica não modificou a incidência de metástases hepáticas a longo prazo, ao comparar nossos resultados aos dos grandes ensaios clínicos randomizados. Para os pacientes analisados, a ressecção laparoscópica foi eficaz e segura em relação aos resultados oncológicos a longo prazo.

IL28B gene polymorphisms in mono- and HIV-coinfected chronic hepatitis C patients.

INTRODUCTION: Single-nucleotide polymorphisms (SNPs) associated with hepatitis C virus (HCV) clearance were identified near the IL28B gene. Coinfection by the human immunodeficiency virus (HIV) influences the course of HCV contributing to liver damage. Nevertheless, little is known about the relationship between these SNPs and HCV/HIV coinfection. Our aim was to estimate the frequencies of the allelic and genotypic variants of the IL28B polymorphisms rs12979860 (C/T) and rs8099917 (T/G) and their possible association with the establishment of HCV infection. METHODOLOGY: A total of 199 non-infected controls and 230 patients with chronic hepatitis C, including 53 coinfected with HIV, participated in the study. Genotyping consisted of polymerase chain reaction and subsequent analysis of the restriction patterns resulting from exposure to endonucleases. RESULTS: Among the controls with established results, 47.4% (90/190) exhibited the rs12979860 CC genotype, 43.7 CT, and 8.9% TT, whereas 29.1% (66/227), 51.5%, and 19.4% of the patients exhibited the CC, CT, and TT genotypes, respectively. With respect to rs8099917, 66.8% (133/199) of the controls exhibited the TT genotype, 31.2% TG, and 2.0% GG, whereas 56.1% (129/230), 40.9%, and 3.0% of the patients exhibited the TT, TG, and GG genotypes, respectively. CONCLUSION: The frequencies of the rs12979860 C allele and CC genotype and of the rs8099917 T allele and TT genotype were significantly higher among controls compared with patients, thus confirming the suggested protective effect against HCV infection. No significant difference was observed in the genotype and allelic distributions between the mono- and coinfected patients.

Analysis of neutrophil-lymphocyte ratio as a prognostic element in the response to neoadjuvant therapy in rectal cancer / Análise da relação neutrófilo-linfócito como elemento prognóstico na resposta à terapia neo-adjuvante no câncer do reto

INTRODUCTION: The previous radio-chemotherapy approach is highly relevant in the management of rectal cancer, collaborating on organ functional preservation, being performed prior to surgery. The inflammatory response plays an important role in this treatment. OBJECTIVE: It consists in correlating the number of peripheral lymphocytes and the neutrophil/lymphocyte ratio in the peripheral blood with tumor response to neoadjuvant therapy. METHODS: Review of medical records of patients with rectal cancer in HMSJ and HSJ Oncology Services since 2009 - cases submitted to neoadjuvant treatment with radio-chemotherapy. RESULTS: Of those 96 patients with this disease who underwent neoadjuvant therapy with radio-chemotherapy, 35 patients were eligible; complete tumor response was observed in 11 cases (31%), and 9 were submitted to surgical treatment. Comparing the leukocyte parameters between patients with complete response (CR) and incomplete response (IR) the following values were observed: total number of leukocytes (mean) CR 7390.9 × IR 7220.4 (p = 0.8); total lymphocytes CR 2103 × IR 1960.9 (p = 0.4); neutrophil/lymphocyte ratio CR 3.55 × IR 3.79 (p = 0.5). The mean radiotherapy dose was 49.1 Gy, with CR 47.3 × IR 50.0 (p = 0.06). CONCLUSION: It was not possible to demonstrate in this study a significant relationship between complete tumor response to neoadjuvant therapy with respect to blood leukocyte parameters analyzed. (AU)

INTRODUÇÃO: A abordagem radio-quimioterápica previa apresenta grande relevância no manuseio do câncer de reto, colaborando na preservação funcional do órgão, sendo realizada previamente à cirurgia. A resposta inflamatória tem papel importante neste tratamento. OBJETIVO: Consiste em correlacionar o número de linfócitos periféricos e a relação neutrófilos/linfócitos no sangue periférico com a resposta tumoral à terapia neo-adjuvante. MÉTODOS: Revisão de prontuários dos pacientes portadores de câncer retal dos serviços de Oncologia do HMSJ e HSJ, desde 2009, casos submetidos ao tratamento neo-adjuvante com radio-quimioterapia. RESULTADOS: Do total de 96 pacientes portadores desta enfermidade, submetidos à terapia neo-adjuvante com radio-quimioterapia foram elegíveis 35 pacientes, tendo sido observada resposta completa tumoral em 11 casos (31%), e nove foram submetidos ao tratamento cirúrgico. Na comparação dos parâmetros leucocitários entre os pacientes com resposta completa (RC) e resposta incompleta (RI) foram observados os seguintes valores: número total de leucócitos (média) RC 7390,9 × RI 7220,4 (p = 0,8); linfócitos totais RC 2103 × RI 1960,9 (p = 0,4); relação neutrófilo/linfócito RC 3,55 × RI 3,79 (p = 0,5). A dose radioterápica média foi de 49.1 Gy, sendo RC 47,3 × RI 50,0 (p = 0,06). CONCLUSÃO: Não foi possível demonstrar no presente estudo relação significativa entre resposta completa tumoral à terapia neo-adjuvante nos parâmetros analisados do perfil leucocitário. (AU)

T300A genetic polymorphism: a susceptibility factor for Crohn's disease?

CONTEXT: Crohn's disease is characterized by a chronic and debilitating inflammatory disorder of the gastrointestinal tract. Several factors may contribute to its development. From extensive studies of the human genome, the polymorphism T300A of the gene ATG16L1 (autophagy-related 16-like 1) has been related to increased risk of developing this disease. OBJECTIVES: Analyze the role of polymorphism T300A (rs2241880) in patients with Crohn's disease. METHODS: 238 samples from (control group) and 106 samples from patients with Crohn's disease recruited at five Southern Brazilian reference centers were evaluated. The genotyping consisted of the amplification via Polymerase Chain Reaction of the genomic segment encompassing T300A, followed by Restriction Fragment Length Polymorphism analysis. The amplicons and fragments were separated by agarose gel electrophoresis and confirmed under ultraviolet light. RESULTS: The genotype AG was more prevalent among patients and controls (50% vs 44.8%), followed by genotypes AA (26.4% vs 35.1%) and GG (23.6% vs 20.1%). The frequency of the allele G of the polymorphism T300A was higher in the group of patients with Crohn's disease (48.6%) than in controls (42.4%), although not reaching statistical significance. CONCLUSIONS: It was not possible to confirm the increased susceptibility on development of Crohn's disease conferred by polymorphism T300A.

T300A GENETIC POLYMORPHISM: a susceptibility factor for Crohn?s disease? / Polimorfismo genético T300A: fator de susceptibilidade para doença de Crohn?

Context Crohn’s disease is characterized by a chronic and debilitating inflammatory disorder of the gastrointestinal tract. Several factors may contribute to its development. From extensive studies of the human genome, the polymorphism T300A of the gene ATG16L1 (autophagy-related 16-like 1) has been related to increased risk of developing this disease. Objectives Analyze the role of polymorphism T300A (rs2241880) in patients with Crohn’s disease. Methods 238 samples from (control group) and 106 samples from patients with Crohn’s disease recruited at five Southern Brazilian reference centers were evaluated. The genotyping consisted of the amplification via Polymerase Chain Reaction of the genomic segment encompassing T300A, followed by Restriction Fragment Length Polymorphism analysis. The amplicons and fragments were separated by agarose gel electrophoresis and confirmed under ultraviolet light. Results The genotype AG was more prevalent among patients and controls (50% vs 44.8%), followed by genotypes AA (26.4% vs 35.1%) and GG (23.6% vs 20.1%). The frequency of the allele G of the polymorphism T300A was higher in the group of patients with Crohn’s disease (48.6%) than in controls (42.4%), although not reaching statistical significance. Conclusions It was not possible to confirm the increased susceptibility on development of Crohn’s disease conferred by polymorphism T300A. .

Contexto A doença de Crohn caracteriza-se por uma desordem inflamatória, crônica e debilitante do trato gastrointestinal. Diversos fatores contribuem para seu desenvolvimento. A partir da realização de estudos amplos do genoma, o polimorfismo T300A do gene ATG16L1 (autophagy-related 16-like 1) tem sido relacionado com aumento de susceptibilidade ao desenvolvimento desta doença. Objetivos Analisar a incidência do polimorfismo T300A (rs2241880) em pacientes com doença de Crohn. Métodos Foram analisadas 238 amostras de doadores de sangue (grupo controle) e 106 amostras de pacientes com doença de Crohn, procedentes de cinco centros. A genotipagem consistiu em amplificação do segmento gênico T300A, via reação em cadeia da polimerase, seguidos da análise de polimorfismo de comprimentos dos fragmentos de restrição. Os amplicons e fragmentos foram separados via eletroforese em gel de agarose e visualizados sob luz ultravioleta. Resultados O genótipo AG foi mais prevalente entre os pacientes e controles (50% vs 44,8%), seguido dos genótipos AA (26,4% vs 35,1%) e GG (23,6% vs 20,1%). A freqüência do alelo G do polimorfismo T300A foi maior no grupo de pacientes com doença de Crohn (48,6%) do que nos controles (42,4%), embora sem significância estatística. Conclusões Não foi possível confirmar o aumento de susceptibilidade à doença de Crohn conferido pelo polimorfismo T300A. .

Extracellular polysaccharide production by a strain of Pleurotus djamor isolated in the south of Brazil and antitumor activity on Sarcoma 180

Polysaccharides with medicinal properties can be obtained from fruiting bodies, mycelium and culture broth of several fungus species. This work was carried out in batch culture using a stirred tank reactor with two different initial glucose concentrations (40-50 g/L) and pH values (3.0-4.0) to enhance extracellular polysaccharides production by Pleurotus djamor UNIVILLE 001 and evaluate antitumor effect of intraperitonial administration of Pleurotus djamor extract on sarcoma 180 animal model. According to factorial design, the low pH value (pH 3.0) led to a gain of 1.6 g/L on the extracellular polysaccharide concentration, while glucose concentration in the tested range had no significant effect on the concentration of polysaccharide. With 40 g/L initial glucose concentration and pH 3.0, it was observed that yield factor of extracellular polysaccharide on substrate (Y P/S = 0.072) and maximum extracellular polysaccharide productivity (Q Pmax = 11.26 mg/L.h) were about 188% and 321% respectively higher than those obtained in the experiment performed at pH 4.0. Under these conditions, the highest values of the yield factor of biomass on substrate (Y X/S = 0.24) and maximal biomass productivity (Q Xmax = 32.2 mg/L.h) were also reached. In tumor response study, mean tumor volume on the 21th day was 35.3 cm³ in untreated group and 1.6 cm³ in treated group (p = 0.05) with a tumor inhibition rate of 94%. These impressive results suggests an inhibitory effect of P.djamor extract on cancer cells.

Interleukin 28B-related polymorphisms: a pathway for understanding hepatitis C virus infection?

AIM: To analyze the role of rs12979860 and rs8099917 polymorphisms in hepatitis C virus (HCV) genotype 1 infection of Brazilians. METHODS: A total of 145 adult patients diagnosed with genotype 1 chronic hepatitis C (CHC) who had completed a 48-wk regimen of pegylated-interferon α-2a or -2b plus ribavirin combination therapy were recruited from six large urban healthcare centers and 199 healthy blood donors (controls) from a single site between January 2010 and January 2012. Data on the patients' response to treatment was collected. Polymerase chain reaction-restriction fragment length polymorphism genotyping of the interleukin (IL)28B gene fragment encompassing the single nucleotide polymorphisms (SNPs) rs12979860 (C/T) and rs8099917 (T/G) was carried out for 79 of the CHC patients and 199 of the controls. Bi-directional amplicon sequencing of the two SNPs was carried out for the remaining 66 CHC patients. RESULTS: SNP rs12979860 genotyping was successful in 99.5% of the controls and 97.2% of the CHC patients, whereas the SNP rs8099917 genotyping was successful in 95.5% of the controls and 100% of the CHC patients. The genotype and allele distributions for both rs12979860 and rs8099917 were significantly different between the control and CHC patient groups, with significantly higher genotype frequencies of CC and TT in the controls (P = 0.037 and 0.046, respectively) and of TT and GG in the CHC patients (P = 0.0009 and 0.0001, respectively). Analysis of the CHC patients who achieved sustained virological response (SVR) to treatment (n = 55) indicated that the rs12979860 C allele and CC genotype were predictors of SVR (P = 0.02). No significant correlation was found between rs8099917 genotypes and treatment response, but carriers of the T allele showed significantly higher rates of SVR (P = 0.02). Linkage disequilibrium analysis of the group that achieved SVR showed a significant association between rs12979860 and rs8099917 (P = 0.07). CONCLUSION: The higher allele frequency of rs12979860 C and rs8099917 T observed in non-HCV-infected individuals may indicate a potential protective role for these IL28B-related polymorphisms.

Extracellular polysaccharide production by a strain of Pleurotus djamor isolated in the south of Brazil and antitumor activity on Sarcoma 180.

Polysaccharides with medicinal properties can be obtained from fruiting bodies, mycelium and culture broth of several fungus species. This work was carried out in batch culture using a stirred tank reactor with two different initial glucose concentrations (40-50 g/L) and pH values (3.0-4.0) to enhance extracellular polysaccharides production by Pleurotus djamor UNIVILLE 001 and evaluate antitumor effect of intraperitonial administration of Pleurotus djamor extract on sarcoma 180 animal model. According to factorial design, the low pH value (pH 3.0) led to a gain of 1.6 g/L on the extracellular polysaccharide concentration, while glucose concentration in the tested range had no significant effect on the concentration of polysaccharide. With 40 g/L initial glucose concentration and pH 3.0, it was observed that yield factor of extracellular polysaccharide on substrate (YP/S = 0.072) and maximum extracellular polysaccharide productivity (Q(Pmax) = 11.26 mg/L.h) were about 188% and 321% respectively higher than those obtained in the experiment performed at pH 4.0. Under these conditions, the highest values of the yield factor of biomass on substrate (YX/S = 0.24) and maximal biomass productivity (Q(Xmax) = 32.2 mg/L.h) were also reached. In tumor response study, mean tumor volume on the 21th day was 35.3 cm(3) in untreated group and 1.6 cm(3) in treated group (p = 0.05) with a tumor inhibition rate of 94%. These impressive results suggests an inhibitory effect of P.djamor extract on cancer cells.

Toxicity of azathioprine: why and when? analysis of the prevalence of polymorphism in Joinville, SC, Brazil.

CONTEXT: The use of thiopurine drugs such as azathioprine and 6-mercaptopurine has become quite common in the treatment of inflammatory bowel disease, transplantation and acute leukemias. Despite their effectiveness, these drugs are capable of causing drug-induced toxicity with the risk of death by myelosuppression. It is now known that these complications occur because of genetic polymorphisms of the thiopurinemethyltransferase (TPMT) enzyme, responsible for its metabolism. OBJECTIVE: To assess the prevalence of thiopurine methyltransferase polymorphisms in the population of Joinville, SC, Brazil. METHODS: We analyzed the frequency of four main allelic variants of the TPMT gene in 199 blood donors from Joinville, from February to April 2010. RESULTS: The normal allele ("wild-type") was found in 93.9% of subjects studied. TPMT variants were detected in 12 subjects (6.03%). CONCLUSIONS: From this study, it was estimated at 6% the risk of toxicity by the administration of azathioprine and 6-mercaptopurine to patients in Joinville.

A straightforward genotyping of the relevant IL28B SNPs for the prediction of hepatitis C treatment outcome.

A sustained virological response is not achieved by a significant proportion of chronic hepatitis C patients treated with interferon-based regimens. Due to the associated side effects and high costs, therapy response markers have been thoroughly sought. Two Single Nucleotide Polymorphisms (SNPs), rs12979860 and rs8099917, which are located upstream from the IL28B gene, have been remarkably described to have a strong association with treatment efficacy. The aim of this study was to develop a straightforward method for genotyping such polymorphisms. A Polymerase Chain Reaction (PCR) followed by enzymatic restriction of amplicons was established for SNPs genotyping. Online computation resources were employed for retrieving reference sequences, such as the selection of oligonucleotides and restriction enzymes. Two pairs of primers were designed and validated for the amplification of segments encompassing rs12979860 (694bp) and rs8099917 (496bp) with common thermocycling parameters. The endonucleases Hpy166II and BsrDI were selected and used for allelic discrimination related to rs12979860 (C/T) and rs8099917 (T/G), respectively. The expected electropherotypes were confirmed for all possible genotypes in 75 blood samples. In addition, the results were validated by sequencing. The method constitutes a simple and reliable assay, which may be readily available for genotyping of rs12979860 and rs8099917 in laboratories that support hepatitis C treatment centers.

Toxicity of azathioprine: why and when? analysis of the prevalence of polymorphism in Joinville, SC, Brazil / Toxicidade da azatioprina: por que e quando? análise da prevalência de polimorfismo em Joinville, SC

CONTEXT: The use of thiopurine drugs such as azathioprine and 6-mercaptopurine has become quite common in the treatment of inflammatory bowel disease, transplantation and acute leukemias. Despite their effectiveness, these drugs are capable of causing drug-induced toxicity with the risk of death by myelosuppression. It is now known that these complications occur because of genetic polymorphisms of the thiopurinemethyltransferase (TPMT) enzyme, responsible for its metabolism. OBJECTIVE: To assess the prevalence of thiopurine methyltransferase polymorphisms in the population of Joinville, SC, Brazil. METHODS: We analyzed the frequency of four main allelic variants of the TPMT gene in 199 blood donors from Joinville, from February to April 2010. RESULTS: The normal allele ("wild-type") was found in 93.9% of subjects studied. TPMT variants were detected in 12 subjects (6.03%). CONCLUSIONS: From this study, it was estimated at 6% the risk of toxicity by the administration of azathioprine and 6-mercaptopurine to patients in Joinville.

CONTEXTO: A utilização de drogas tiopurinas como a azatioprina e a 6-mercaptopurina tem se tornado bastante frequente no tratamento de doenças inflamatórias intestinais, transplantes e leucemias agudas. Apesar de sua efetividade, estas drogas são capazes de causar toxicidade droga-induzida com risco de morte através de mielossupressão. Sabe-se hoje que estas complicações ocorrem em decorrência de polimorfismos genéticos da enzima tiopurina metiltransferase (TPMT), responsável por sua metabolização. OBJETIVOS: Avaliar a prevalência do polimorfismo do gene da TPMT na população de Joinville, SC. MÉTODOS: Foi analisada a frequência das quatro principais variantes alélicas do gene da TPMT em 199 doadores de sangue da cidade de Joinville, SC, no período de fevereiro a abril de 2010. RESULTADOS: O alelo normal ("selvagem") foi encontrado em 93,9% dos indivíduos estudados. Variantes da TPMT foram detectadas em 12 sujeitos (6,03%). CONCLUSÕES: A partir do presente estudo, pode-se estimar em cerca de 6% o risco de toxicidade na administração de azatioprina e 6-mercaptopurina a pacientes em Joinville.

Perfil dos pacientes ambulatoriais com doenças inflamatórias intestinais / Outpatients profile with inflammatory bowel disease

INTRODUÇÃO: As doenças inflamatórias intestinais são enfermidades crônicas, que afetam significativamente a qualidade e expectativa de vida dos pacientes. Existe polimorfismo clínico e a abordagem terapêutica tem sido modificada nos últimos anos. OBJETIVO: Reavaliar o perfil dos pacientes em acompanhamento ambulatorial analisando o comportamento das doenças, sua prevalência e conduta terapêutica. MÉTODOS: Foi realizado um estudo transversal da última atualização da base de dados dos pacientes de ambulatório de doença inflamatória intestinal em 2010. Os itens analisados foram sexo e idade dos pacientes, tipo da doença (retocolite ulcerativa ou doença de Crohn), localização da doença, tipo de medicação em uso, e se os pacientes estavam sintomáticos ou assintomáticos na última consulta. RESULTADOS: Foram estudados 171 pacientes. O sexo feminino mostrou-se predominante (60,8 por cento) e a média de idade dos pacientes foi de 42,3, variando de 16 a 84 anos. Em relação ao tipo de doença inflamatória, a retocolite ulcerativa mostrou-se mais prevalente (58,5 por cento). As localizações mais frequentes na retocolite ulcerativa foram pancolite e retite, ambas com 26 por cento (n=26). Na doença de Crohn a localização ileocolônica foi a mais prevalente, com 47,9 por cento (n=34), sendo seguida pela colônica com 25,4 por cento (n=18). A monoterapia foi a mais utilizada, correspondendo a 54,4 por cento dos pacientes, sendo que os imunossupressores foram as drogas de uso mais frequente (35,5 por cento). A associação de medicamentos foi necessária em 36,3 por cento dos casos, sendo a combinação mais frequente salicilato local com sistêmico em 33,9 por cento. Nos portadores de retocolite ulcerativa 82 por cento estavam em uso de salicilatos, seja local ou sistêmico. Na doença de Crohn 57,7 por cento faziam uso de imunossupressores. Em relação à atividade da doença na última consulta, 71,3 por cento dos pacientes apresentavam-se assintomáticos. CONCLUSÃO: A retocolite ulcerativa foi pouco mais prevalente que a doença de Crohn, sendo pancolite e retite as localizações mais frequentes. Na doença de Crohn a localização ileocolônica foi a mais encontrada seguida pela colônica. A monoterapia com imunossupressores foi o esquema terapêutico mais utilizado. A maioria dos pacientes apresentava-se assintomático na última consulta.

INTRODUCTION: The inflammatory bowel diseases are chronic illnesses that significantly affect the quality and patients life expectancy. There is clinical polymorphism and the therapeutic approach has been modified in recent years. AIM: To re-analyze the profile of outpatient patients studying the behavior of the disease, its prevalence and therapeutic approach. METHODS: Was conducted a cross-sectional study of the last 2010 update database of patients with inflammatory bowel disease. The items analyzed were age and sex of patients, type of disease (ulcerative colitis or Crohn's disease), disease location, type of medication used, and whether patients were symptomatic or asymptomatic at the last visit. RESULTS: In a total of 171 patients women were found to be predominant (60.8 percent) and the mean age was 42.3, ranging from 16 to 84 years. Regarding the type of inflammatory disease, ulcerative colitis was more prevalent (58.5 percent). The most common locations on ulcerative colitis were pancolitis and rectitis, both with 26 percent (n = 26). In Crohn's disease ileocolic location was the most prevalent, with 47.9 percent (n = 34), followed by colonic 25.4 percent (n = 18). Monotherapy was the most used, accounting for 54.4 percent of patients, the immunosuppressive drugs were the most frequently used (35.5 percent). The combination of drugs was necessary in 36.3 percent of cases, being the most frequent combination with systemic salicylate in 33.9 percent. In patients with ulcerative colitis 82 percent were using salicylates, whether local or systemic. In Crohn's disease 57.7 percent were taking immunosuppressive drugs. In relation to the disease in the last visit, 71.3 percent of patients were asymptomatic. CONCLUSION: The ulcerative colitis was slightly more prevalent than Crohn's disease, pancolitis and rectitis being the most common locations. In Crohn's disease ileocolic location was the most common followed by colonic. Monotherapy immunosuppressive regimen was the most popular. Most of the patients were asymptomatic at last visit.

Painel molecular para detecção de microrganismos associados à sepse / Molecular panel for detection of sepsis-related microorganisms

INTRODUÇÃO: A sepse é uma resposta inflamatória sistêmica relacionada com altas taxas de mortalidade no meio hospitalar. O diagnóstico etiológico tardio e terapia antimicrobiana inadequada se associam a falhas do tratamento. Exames moleculares baseados na reação em cadeia da polimerase são considerados métodos mais rápidos e precisos do que técnicas de hemocultura para identificação microbiana, proporcionando uma taxa mais elevada de sucesso terapêutico. OBJETIVO: Desenvolver um painel de seqüências iniciadoras (primers) para fragmentos de DNA de microrganismos associados à sepse. MÉTODOS: Seqüências iniciadoras para amplificação de Enterobacter spp., Escherichia coli, Pseudomonas aeruginosa, Staphylococcus aureus e Candida spp. foram desenvolvidos e testados quanto a sensibilidade e especificidade com base em suas respectivas cepas padrão. RESULTADOS: A especificidade pretendida foi obtida para os primers de P. aeruginosa, S. aureus e Candida spp. O teste de sensibilidade mostrou um limite de detecção de 5 ng a 500 fg em amostras de sangue contaminado com DNA microbiano. CONCLUSÕES: O painel molecular apresentado oferece a vantagem de constituir um sistema flexível "aberto" em comparação a outros métodos de detecção múltipla.

INTRODUCTION: Sepsis is a systemic inflammatory response related to high mortality rates in the hospital environment. Delayed etiological diagnosis and inadequate antimicrobial therapy are associated with treatment failures. Molecular tests based on polymerase chain reaction are regarded as faster and more accurate procedures than culture techniques for microbial identification, providing a higher rate of therapeutic success. OBJECTIVE: To develop a panel of primers for DNA fragments of sepsis-related microorganisms. METHODS: Primers for amplification of Enterobacter spp., Escherichia coli, Pseudomonas aeruginosa, Staphylococcus aureus and Candida spp. were designed and tested for sensitivity and specificity on the basis of their respective standard strains. RESULTS: The intended specificity was obtained for P. aeruginosa, S. aureus and Candida spp primers. Sensitivity tests showed a threshold for detection from 5 ng to 500 fg in blood samples contaminated with microbial DNA. CONCLUSIONS: The molecular panel presented offers the advantage of a flexible 'open' system when compared to other multiplex detection methods.

Molecular panel for detection of sepsis-related microorganisms. / Painel molecular para detecção de microrganismos associados à sepse.

INTRODUCTION: Sepsis is a systemic inflammatory response related to high mortality rates in the hospital environment. Delayed etiological diagnosis and inadequate antimicrobial therapy are associated with treatment failures. Molecular tests based on polymerase chain reaction are regarded as faster and more accurate procedures than culture techniques for microbial identification, providing a higher rate of therapeutic success. OBJECTIVE: To develop a panel of primers for DNA fragments of sepsis-related microorganisms. METHODS: Primers for amplification of Enterobacter spp., Escherichia coli, Pseudomonas aeruginosa, Staphylococcus aureus and Candida spp. were designed and tested for sensitivity and specificity on the basis of their respective standard strains. RESULTS: The intended specificity was obtained for P. aeruginosa, S. aureus and Candida spp primers. Sensitivity tests showed a threshold for detection from 5 ng to 500 fg in blood samples contaminated with microbial DNA. CONCLUSIONS: The molecular panel presented offers the advantage of a flexible 'open' system when compared to other multiplex detection methods.