RESUMO
Azathioprine (AZA) and 6-mercaptopurine (6-MP) are drugs widely used in the treatment of autoimmune diseases. Among the enzymes involved in the metabolism of AZA and 6-MP are thiopurine methyltransferase (TPMT) and nudix hydrolase 15 (NUDT15). The existence of single nucleotide polymorphisms in the genes that code for these enzymes could decreased enzymatic activity AND lead to severe myelosuppression. The most relevant polymorphism is NUDT15*3 (rs116855232), where the replacement of cytosine for thymine at position 415, which in turn leads to a loss of enzymatic activity. In a previous study, it was identified that together the polymorphisms in the TPMT gene reach an allelic frequency of 3.81%. There is no information regarding the rs116855232 polymorphism in the NUDT15 gene, so this corresponds to the objective of this report. Blood samples from Chilean adult patients with indications for the use of AZA or 6-MP for different pathologies and who had undergone a TPMT gene polymorphism study were retrospectively analyzed. A total of 253 blood samples were analyzed. Of the 253 patients, 47 presented the c.415C>T polymorphism in the NUDT15 gene, 3 being homozygous and 44 heterozygous. Four of the heterozygous patients for NUDT15 also had the *3A variant in the TPMT gene, also heterozygous. The allelic frequency of the minor T allele found (9.88%) was very similar to that found in patients of Asian origin, and much higher than that reported for the European Caucasian or Latin American population.
Assuntos
Azatioprina , Mercaptopurina , Metiltransferases , Pirofosfatases , Adulto , Humanos , Azatioprina/efeitos adversos , Chile , Mercaptopurina/efeitos adversos , Metiltransferases/genética , Polimorfismo de Nucleotídeo Único , Pirofosfatases/genética , Estudos RetrospectivosRESUMO
The relationship between Microscopic Colitis and Inflammatory Bowel Disease is unclear. However, when both are diagnosed they seem to be part of a broader spectrum of the same disease, more than just a coincidence. We report a 55 years old woman with Ulcerative Colitis limited to the rectum with complete clinical and endoscopic response to standard treatment and adequate surveillance for 13 years, who abandoned treatment and control. After eight years, she consulted for mild-to-moderate non-bloody diarrhea lasting several months. Colonoscopy and basic laboratory did not show any alterations. Nevertheless, random biopsies had a characteristically pattern compatible with Lymphocytic Colitis. After the first week of treatment with budesonide the patient was asymptomatic and still in clinical remission, with negative fecal calprotectin at 6 months follow-up.
Assuntos
Colite Linfocítica/patologia , Colite Ulcerativa/patologia , Biópsia , Colonoscopia , Fezes/química , Feminino , Humanos , Doenças Inflamatórias Intestinais/complicações , Complexo Antígeno L1 Leucocitário/análise , Pessoa de Meia-IdadeRESUMO
BACKGROUND: Approximately, 15% of patients with Inflammatory Bowel Disease (IBD) are diagnosed at 60 years of age or more. AIM: To characterize and compare clinical variables between patients with IBD aged 60 years or more and their younger counterparts. MATERIAL AND METHODS: Retrospective study based on a registry of IBD patients diagnosed between the years 1976 and 2014. RESULTS: Four hundred and nine IBD patients were included. Among them, 294 had Ulcerative Colitis (UC), 104 had Crohn's Disease (CD) and eleven had an indeterminate IBD. Forty-six patients (11.2%) were older than 60 years and 16 (3.9%) had been diagnosed after this age. When comparing patients by age, those aged 60 years or more had a higher frequency of CD and indeterminate IBD (p < 0.01) and a lower ileocolic location in CD (p = 0.02). Both groups were similar in terms of hospitalization due to IBD flare, surgery, use of steroids, immunosuppressive or biological therapies and drug-related adverse events. When analyzing age at diagnosis of IBD, patients diagnosed at ages of 60 years or more had a lower frequency of UC (p < 0.01), a higher frequency of exclusive colonic involvement (p = 0.01), and lower use of mesalamine (p < 0.01). There were no differences in drug-related adverse events, hospitalizations due to IBD flares and surgery according to age at diagnosis. CONCLUSIONS: In this population, clinical features of IBD in older patients were similar to those in younger patients.
Assuntos
Fatores Etários , Doenças Inflamatórias Intestinais/diagnóstico , Adolescente , Adulto , Idoso , Estudos de Coortes , Colite Ulcerativa/diagnóstico , Doença de Crohn/diagnóstico , Diagnóstico Diferencial , Feminino , Humanos , Imunossupressores/uso terapêutico , Doenças Inflamatórias Intestinais/terapia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Índice de Gravidade de Doença , Adulto JovemRESUMO
BACKGROUND: The chronic inflammation of the intestinal mucosa, the extra-intestinal manifestations of the disease and the immunosuppressive treatment of inflammatory bowel disease may increase cancer risk. AIM: To report the demographic and clinical features of patients with IBD who developed a malignant tumor. MATERIAL AND METHODS: Retrospective analysis of an IBD patient registry of a private clinic, diagnosed between 1976 and 2014. RESULTS: 437 subjects were included, aged 15-88 years (58% women). Seventy two percent of patients had ulcerative colitis. The median time of follow up was 6 years. Ten patients (2.3%) developed a malignant tumor. In four, the tumor could be related to IBD (two colorectal cancers, one cholangiocarcinoma and one chronic myeloid leukemia (CML)). Two of 45 patients treated with biological therapy developed a tumor (CML and hypernephroma). Three of 170 patients on immunosuppressive treatment developed tumors. Only one had a tumor possibly related with the use of azathioprine (non-melanoma skin cancer). In only two patients, the treatment was changed at the time of their cancer diagnosis, from immunosuppressive medications to mesalamine. CONCLUSIONS: Only a small proportion of these patients with IBD developed a malignant tumor. The treatment of IBD has to be determined by the severity of the disease and not by the fear of developing a neoplasia. Following recommendations is fundamental to decrease the possibility of developing this complication.
Assuntos
Neoplasias Colorretais/etiologia , Doenças Inflamatórias Intestinais/complicações , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Terapia Biológica/efeitos adversos , Chile/epidemiologia , Estudos de Coortes , Colite Ulcerativa/complicações , Neoplasias Colorretais/classificação , Neoplasias Colorretais/epidemiologia , Doença de Crohn/complicações , Feminino , Humanos , Imunossupressores/efeitos adversos , Doenças Inflamatórias Intestinais/tratamento farmacológico , Doenças Inflamatórias Intestinais/epidemiologia , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Adulto JovemRESUMO
BACKGROUND: Laparoscopic colorectal surgery (LCRS) has several advantages over open surgery, but LCRS has been associated with a higher rate of postoperative complications (POCs) among obese patients [body mass index (BMI), ≥30 kg/m(2)]. The prevalence of obesity in Chile is increasing, up to 25.1% in 2010, suggesting that a higher percentage of patients undergoing LCRS will be obese. This study compared POC rates between obese and nonobese patients undergoing LCRS. METHODS: This study included case and control patients in a prospectively maintained LCRS database who underwent LCRS between July 2007 and June 2012 at Clinica Las Condes, Santiago, Chile. Obese and nonobese (BMI <30 kg/m(2)) patients were paired by gender, age, American Society of Anesthesiologists class, preoperative diagnosis, and type of surgery. Intraoperative complications and POCs were documented up to 30 days. The severity of each POC was classified by Clavien-Dindo score. RESULTS: In this study, 449 patients who underwent LCRS during the study period were identified. The study paired 53 obese patients (mean BMI 33.1 kg/m(2)) with 53 nonobese patients (mean BMI 25.9 kg/m(2)). The median age was 55 years in the obese group and 57 years in the nonobese group, and 60% of the patients in both groups were men. The findings showed POCs in 13 obese (24.5%) and 15 nonobese (28.3%) patients (p = 0.66). Stratified by severity of POCs, the two groups were similar (p = 0.62). The two groups did not differ in terms of the median time to the first feeding (1 day each) or the hospital length of stay (4 days each). Similar percentages of patients in the two groups required reoperation (p = 0.4), intensive care unit (ICU) admission (p = 0.77), and readmission to the hospital (p = 0.65) because of POCs. CONCLUSION: The frequency of POCs after LCRS was no higher among the obese patients than among the nonobese patients.
Assuntos
Doenças do Colo/cirurgia , Laparoscopia , Obesidade/complicações , Complicações Pós-Operatórias , Doenças Retais/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Índice de Massa Corporal , Estudos de Casos e Controles , Chile , Estudos de Coortes , Feminino , Humanos , Unidades de Terapia Intensiva , Tempo de Internação/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Duração da CirurgiaRESUMO
BACKGROUND: The incidence and prevalence of Inflammatory Bowel Disease (IBD) has increased. AIM: To determine demographic and clinical characteristics of patients with IBD in a Chilean private hospital. PATIENTS AND METHODS: Review of a prospective registry of patients with IBD, started on 2012. It includes clinical, imaging, endoscopical and pathological information of patients. RESULTS: Data of 316 patients with IBD, aged 16 to 86 years (56% females), were analyzed. Ulcerative Colitis (UC), Crohn´s and non-classifiable IBD were diagnosed in 230, 77 and 9 patients, respectively. The disease was diagnosed in 82% of patients in the period between 2002 and 2012. There was a peak in the diagnosis of both UC and CD between 20 and 39 years of age, without gender differences. The disease switched from UC to CD in six patients. In four, there was a change in disease behavior. Thirty eight patients were treated with biological therapy. The median lapse between the diagnosis and the use of biological therapy was 1 year in patients diagnosed after 2007, compared with 5.5 years among those patients diagnosed before 2007 (p = 0.001). There was a trend towards a higher requirement of surgery until 2006. Subsequently there was a stabilization of the requirement, concomitant with the incorporation of biological therapy. CONCLUSIONS: An adequate registry of IBD patients is necessary to improve demographic and clinical characteristics. A national registry is needed to assess the epidemiological changes of IBD in Chile.
Assuntos
Doenças Inflamatórias Intestinais , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Chile/epidemiologia , Estudos de Coortes , Feminino , Humanos , Doenças Inflamatórias Intestinais/diagnóstico , Doenças Inflamatórias Intestinais/epidemiologia , Doenças Inflamatórias Intestinais/terapia , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Adulto JovemRESUMO
Objectives: Gastric involvement in patients with early systemic sclerosis (SSc) has not been previously investigated. We aim to evaluate the association of gastric dysrhythmias with gastrointestinal (GI) symptoms and nailfold video capillaroscopy (NVC). Methods: Cross-sectional study. Patients with early SSc, completed the UCLA GIT 2.0 questionnaire, performed an NVC, and a surface Electrogastrography (EGG). Descriptive statistics was used for demographic and clinical characteristics and Fisher and Kendall Tau tests were used for association analysis. Results: 75 patients were screened, 30 patients were consecutively enrolled, 29 performed the EGG and 1 patient had a non-interpretable NVC. 29/30 were female with a mean age of 48.7 years (25-72). The mean disease duration from the first non-RP symptom was 22.6 +/-10.8 months and most of the patients had limited disease (76.6%). Total GIT 2.0 score symptoms were moderate-severe in 63% of the participants and 28/29 had an abnormal EGG. Bradygastria was the most common pattern present in 70% of the participants. NVC patterns: 17% early, 34% active, 28% scleroderma-like, 14% non-specific, and 2 patients had a normal NVC. There was no association between severe GI symptoms or NVC patterns and severely abnormal EGG, but the presence of bradygastria was associated with severe impairment in the social functioning area (p 0.018). Conclusions: Gastric dysmotility is common in early SSc and there is a lack of correlation between GI symptoms and NVC scleroderma patterns. EGG is a sensitive, cheap, and non-invasive exam, that may be an alternative to early diagnosis of GI involvement.
RESUMO
INTRODUCTION: Colorectal cancer (CRC) is the third most frequent malignant disease in the world. In some countries with established screening programs, its incidence and mortality have decreased, and survival has improved. AIMS: To obtain reliable data about the epidemiology of CRC in Chile, we analyzed the trends in the last ten years and the influence of observable factors on survival, including a nationwide health program for CRC treatment access (GES program). METHODS: Publicly available data published by the Ministry of Health and National Institute of Statistics were used. Data were obtained from registries of mortality and hospital discharges, making follow-up of the individuals possible. Crude and age-standardized incidence and mortality rates were calculated, and individual survival was studied by constructing Kaplan-Meier curves. Finally, a Cox statistical model was established to estimate the impact of the observable factors. RESULTS: We found 37,217 newly identified CRC patients between 2008 and 2019 in Chile, corresponding to 103,239 hospital discharges. In the same period, 24,217 people died of CRC. A nearly linear, steady increase in crude incidence, mortality and prevalence was observed. CRC incidence was the lowest in the North of the country, increasing toward the South and reaching a maximum value of 34.6/100,000 inhabitants/year in terms of crude incidence and 20.7/100,000 inhabitants/year in terms of crude mortality in the XII region in 2018. We found that older patients had lower survival rates, as well as men compared to women. Survival was significantly better for patients with private insurance than those under the public insurance system, and the treating hospital also played a significant role in the survival of patients. Patients in the capital region survived longer than those in almost every other part of the country. We found no significant effect on survival associated with the GES program. CONCLUSIONS: We found important inequalities in the survival probabilities for CRC patients in Chile. Survival depends mainly on the type of insurance, access to more complex hospitals, and geographical location; all three factors correlated with socioeconomic status of the population. Our work emphasized the need to create specific programs addressing primary causes to decrease the differences in CRC survival.
Assuntos
Neoplasias Colorretais , Masculino , Humanos , Feminino , Estados Unidos , Chile/epidemiologia , Taxa de Sobrevida , Incidência , Sistema de Registros , Neoplasias Colorretais/patologia , Fatores SocioeconômicosRESUMO
OBJECTIVE: Imaging techniques are accurate and reliable in diagnosing inflammatory bowel disease (IBD). However, the main disadvantage of computed tomography (CT) compared with magnetic resonance imaging (MRI) is radiation exposure and the potential risk of cancer, especially since IBD patients are at increased risk of malignancies. This study aims to quantify and characterize effective radiation exposure of IBD patients. METHODS: A cohort of IBD patients were retrospectively enrolled in the Clínica las Condes IBD registry between 2011 and 2013. High cumulative radiation exposure (CED) was defined as ≥-50 mSv. RESULTS: A total of 325 IBD patients were enrolled in our registry, including 243 (74.8%) with UC and 82 (25.2%) with CD. The patients with CD were more commonly to reach a high CED seen compared with those with UC (19.5% vs 2.5%). Higher exposure to radiation was associated with longer duration of disease, ileal involvement, stricturing behavior, treatments with steroids and biological agents and CD-related hospitalization or surgery. Abdominopelvic CT and enteroclysis CT accounted for 93.6% of total CED. CONCLUSIONS: A high percentage of IBD patients are exposed to high CED. Radiation-free cross-sectional examinations, such as MRI, should be used, especially in young patients, those who have undergone prior surgery and those with severe IBD.
Assuntos
Diagnóstico por Imagem/efeitos adversos , Doenças Inflamatórias Intestinais/diagnóstico por imagem , Lesões por Radiação/etiologia , Radiação Ionizante , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Relação Dose-Resposta à Radiação , Feminino , Humanos , Doenças Inflamatórias Intestinais/complicações , Masculino , Pessoa de Meia-Idade , Lesões por Radiação/epidemiologia , Radiografia , Estudos Retrospectivos , Adulto JovemRESUMO
The relationship between Microscopic Colitis and Inflammatory Bowel Disease is unclear. However, when both are diagnosed they seem to be part of a broader spectrum of the same disease, more than just a coincidence. We report a 55 years old woman with Ulcerative Colitis limited to the rectum with complete clinical and endoscopic response to standard treatment and adequate surveillance for 13 years, who abandoned treatment and control. After eight years, she consulted for mild-to-moderate non-bloody diarrhea lasting several months. Colonoscopy and basic laboratory did not show any alterations. Nevertheless, random biopsies had a characteristically pattern compatible with Lymphocytic Colitis. After the first week of treatment with budesonide the patient was asymptomatic and still in clinical remission, with negative fecal calprotectin at 6 months follow-up.
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Colite Ulcerativa/patologia , Colite Linfocítica/patologia , Biópsia , Doenças Inflamatórias Intestinais/complicações , Colonoscopia , Complexo Antígeno L1 Leucocitário/análise , Fezes/químicaRESUMO
Background: Approximately, 15% of patients with Inflammatory Bowel Disease (IBD) are diagnosed at 60 years of age or more. Aim: To characterize and compare clinical variables between patients with IBD aged 60 years or more and their younger counterparts. Material and Methods: Retrospective study based on a registry of IBD patients diagnosed between the years 1976 and 2014. Results: Four hundred and nine IBD patients were included. Among them, 294 had Ulcerative Colitis (UC), 104 had Crohn s Disease (CD) and eleven had an indeterminate IBD. Forty-six patients (11.2%) were older than 60 years and 16 (3.9%) had been diagnosed after this age. When comparing patients by age, those aged 60 years or more had a higher frequency of CD and indeterminate IBD (p < 0.01) and a lower ileocolic location in CD (p = 0.02). Both groups were similar in terms of hospitalization due to IBD flare, surgery, use of steroids, immunosuppressive or biological therapies and drug-related adverse events. When analyzing age at diagnosis of IBD, patients diagnosed at ages of 60 years or more had a lower frequency of UC (p < 0.01), a higher frequency of exclusive colonic involvement (p = 0.01), and lower use of mesalamine (p < 0.01). There were no differences in drug-related adverse events, hospitalizations due to IBD flares and surgery according to age at diagnosis. Conclusions: In this population, clinical features of IBD in older patients were similar to those in younger patients.
Assuntos
Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Fatores Etários , Doenças Inflamatórias Intestinais/diagnóstico , Estudos de Coortes , Colite Ulcerativa/diagnóstico , Doença de Crohn/diagnóstico , Diagnóstico Diferencial , Imunossupressores/uso terapêutico , Doenças Inflamatórias Intestinais/terapia , Estudos Retrospectivos , Índice de Gravidade de DoençaRESUMO
Background: The chronic inflammation of the intestinal mucosa, the extra-intestinal manifestations of the disease and the immunosuppressive treatment of inflammatory bowel disease may increase cancer risk. Aim: To report the demographic and clinical features of patients with IBD who developed a malignant tumor. Material and Methods: Retrospective analysis of an IBD patient registry of a private clinic, diagnosed between 1976 and 2014. Results: 437 subjects were included, aged 15-88 years (58% women). Seventy two percent of patients had ulcerative colitis. The median time of follow up was 6 years. Ten patients (2.3%) developed a malignant tumor. In four, the tumor could be related to IBD (two colorectal cancers, one cholangiocarcinoma and one chronic myeloid leukemia (CML)). Two of 45 patients treated with biological therapy developed a tumor (CML and hypernephroma). Three of 170 patients on immunosuppressive treatment developed tumors. Only one had a tumor possibly related with the use of azathioprine (non-melanoma skin cancer). In only two patients, the treatment was changed at the time of their cancer diagnosis, from immunosuppressive medications to mesalamine. Conclusions: Only a small proportion of these patients with IBD developed a malignant tumor. The treatment of IBD has to be determined by the severity of the disease and not by the fear of developing a neoplasia. Following recommendations is fundamental to decrease the possibility of developing this complication.
Assuntos
Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Neoplasias Colorretais/etiologia , Doenças Inflamatórias Intestinais/complicações , Terapia Biológica/efeitos adversos , Chile/epidemiologia , Estudos de Coortes , Colite Ulcerativa/complicações , Neoplasias Colorretais/classificação , Neoplasias Colorretais/epidemiologia , Doença de Crohn/complicações , Imunossupressores/efeitos adversos , Doenças Inflamatórias Intestinais/tratamento farmacológico , Doenças Inflamatórias Intestinais/epidemiologia , Fatores de RiscoAssuntos
Bacteriemia/microbiologia , Terapia Biológica/métodos , Infecções por Clostridium/terapia , Doença de Crohn/microbiologia , Fezes/microbiologia , Clostridioides difficile , Infecções por Clostridium/complicações , Doença de Crohn/complicações , Humanos , Masculino , Microbiota , Pessoa de Meia-Idade , RecidivaRESUMO
Background: The incidence and prevalence of Inflammatory Bowel Disease (IBD) has increased. Aim: To determine demographic and clinical characteristics of patients with IBD in a Chilean private hospital. Patients and Methods: Review of a prospective registry of patients with IBD, started on 2012. It includes clinical, imaging, endoscopical and pathological information of patients. Results: Data of 316 patients with IBD, aged 16 to 86 years (56% females), were analyzed. Ulcerative Colitis (UC), Crohn´s and non-classifiable IBD were diagnosed in 230, 77 and 9 patients, respectively. The disease was diagnosed in 82% of patients in the period between 2002 and 2012. There was a peak in the diagnosis of both UC and CD between 20 and 39 years of age, without gender differences. The disease switched from UC to CD in six patients. In four, there was a change in disease behavior. Thirty eight patients were treated with biological therapy. The median lapse between the diagnosis and the use of biological therapy was 1 year in patients diagnosed after 2007, compared with 5.5 years among those patients diagnosed before 2007 (p = 0.001). There was a trend towards a higher requirement of surgery until 2006. Subsequently there was a stabilization of the requirement, concomitant with the incorporation of biological therapy. Conclusions: An adequate registry of IBD patients is necessary to improve demographic and clinical characteristics. A national registry is needed to assess the epidemiological changes of IBD in Chile.