ABSTRACT
BACKGROUND: Gallbladder Cancer (GBC) prevalence varies among countries, associated with different geographical and genetic factors. The Mapuche ethnicity (Ethnia mostly located between the VIII and X Chilean regions) stands out in Chile due to its high GBC prevalence. Aim: To estimate the GBC prevalence in patients undergoing cholecystectomy at a public hospital in the Northern region of Chile (Tarapaca), where other ethnical groups are common. MATERIAL AND METHODS: Pathological reports of 3270 patients (72% women) who underwent cholecystectomy between January 2016 and December 2019 were revised. Subsequently, the accreditation of ethnic belonging for each patient to one of the ten native communities in Chile was requested to the National Corporation for Native Communities Development (CONADI). RESULTS: According to the analysis of pathological reports, the global GBC prevalence was 0.3 %. The prevalence in Aymaras was 0.4% and 0% in Mapuches. The distribution of ethnic origins among analyzed patients was Aymara in 14.3, Mapuche in 2.7%, Diaguita in 1.7%, Quechua in 1.3%, Atacameña in 0.2%, and Colla in 0.2%. No specific ethnic origin was found in 79% of patients. Conclusions: There was a low GBC prevalence rate in Northern Chile and among the Aymara population.
Subject(s)
Humans , Male , Female , Gallbladder Neoplasms/epidemiology , Cholecystectomy , Ethnicity , Chile/epidemiology , PrevalenceABSTRACT
Background: The prevalence of cholelithiasis and gallbladder cancer may be different across ethnic groups. Aim: To study the prevalence of cholelithiasis and gallbladder cancer among Aymara individuals. Material and Methods: An abdominal ultrasound was carried out in a sample of 182 Aymara women aged 46 ± 16 years and 76 Aymara men aged 55 ± 16 years. In addition, the histopathological reports of both patients with a history of previous cholecystectomy and those operated after the study were reviewed. Results: Ultrasound was normal in 150 participants (58%), 76 had cholelithiasis (30%) and 32 (12%) had a history of cholecystectomy. Pathological reports of the excised gallbladder were available for 106 cases and showed a chronic cholecystitis in 98% of cases. Gallbladder cancer was not reported. Conclusions: There is a 42% prevalence of cholelithiasis and no gallbladder cancer in this sample of Aymara population.
Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Cholelithiasis , Cholecystitis , Gallbladder Neoplasms , Cholecystectomy , Cholelithiasis/surgery , Cholelithiasis/epidemiology , Cholelithiasis/diagnostic imaging , Cholecystitis/surgery , Prevalence , Gallbladder Neoplasms/surgery , Gallbladder Neoplasms/epidemiology , Gallbladder Neoplasms/diagnostic imagingABSTRACT
The Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive disorder associated with microcephaly, immunodeficiency, chromosome instability and cancer proneness. The mutated gene that results in NBS codes for nibrin (Nbs1/p95), a DNA repair protein that is functionally linked to ATM, the kinase protein product of the gene responsible of ataxia-telangiectasia (A-T). We report the clinical, cytogenetic and molecular characterization of a second case of NBS in Chile detected by us. The patient is a 7 years old Chilean boy from a consanguineous marriage, with microcephaly, immunodeficiency and acute non lymphocytic leukemia (ANLL). As NBS shares chromosomal and cellular features with A-T, the cytogenetic studies of this patient also included 3 A-T patients. Our results showed that the frequency of spontaneous and X rays induced chromosomal aberrations in NBS are higher than in A-T cells. DNA analysis revealed that the patient is homozygous for the Slavic mutation 657del5 in the NBS1 gene. This finding and the absence of nibrin in patient's cells, confirmed the clinical diagnosis of NBS in our patient.
Subject(s)
Humans , Male , Child , Ataxia Telangiectasia , Chile , SyndromeABSTRACT
Background: In ataxia telangiectasia (A-T), the lack of a functional ATM kinase is associated with disturbances in the processing of DNA damage and a chronic oxidative stress. These disturbances may be responsible for an increment of chromosomal damage in A-T cells. Aim: To study the in vitro effect of vitamin E (DL-a-tocopherol) on the frequency of chromosomal damage of lymphocytes from patients with A-T. Patients and methods: Seven patients with A-T and age-sex matched controls were studied. Chromosomal damage in mitosis was evaluated in lymphocytes cultures both under basal conditions and when G2 repair was prevented by 5 mM caffeine. Results: In cells from patients with A-T, vitamin E induced a 57.1 and 47.9 percent decrease in chromosomal damage under basal and inhibited G2 repair conditions, respectively. However, there was a non significant improvement in their repair activity. Vitamin E effects on chromosomal damage was not significant in control subjects. Conclusions: Vitamin E reduces chromosomal damage in lymphocytes from patients with ataxia telangiectasia