Programa de vacunación en prisiones: impacto del virus SARS-CoV-2 y retos de futuro / Prison vaccination programmes: the impact of the SARS-CoV-2 virus and future challenges

La vacunación ha sido tradicionalmente una de las actividades de prevención primaria a la que mayor esfuerzo se ha dedicado en las instituciones penitenciarias españolas. Una vez más, la pandemia de coronavirus de tipo 2 causante del síndrome respiratorio agudo severo (SARS-CoV-2) ha puesto de manifiesto la importancia de la vacunación en el control de las enfermedades inmunoprevenibles. Tras superar la emergencia sanitaria provocada por la enfermedad del coronavirus de 2019 (COVID-19), tenemos por delante el reto de recuperar las coberturas vacunales que teníamos antes de la pandemia, además de aumentar las de otras vacunas con menor implantación en nuestro medio. Entre las estrategias de mejora que se deben implementar, estaría la optimización de la transmisión de la información sanitaria entre centros penitenciarios dependientes de diferentes administraciones. También sería deseable poder acceder a los sistemas de información sobre vacunas de las diferentes comunidades autónomas, tanto para conocer el estado vacunal de los pacientes como para notificar las dosis administradas durante el periodo de internamiento, así como mejorar las estadísticas vacunales disponibles en prisión.(AU)

Vaccination has traditionally been one of the primary prevention activities to which most effort has been devoted in Spanish penitentiary institutions. Once again, the type 2 coronavirus pandemic causing severe acute respiratory syndrome (SARS-CoV-2) pandemic has highlighted the importance of vaccination in the control of immunopreventable diseases.After overcoming the health emergency caused by the coronavirus disease 2019 (COVID-19), we face the challenge of recovering the vaccination coverage we had before the pandemic, in addition to increasing the coverage of other vaccines with lesser implantation in our environment. Among the improvement strategies to be implemented would be the optimization of the transmission of health information between penitentiary centers dependent on different administrations. It would also be desirable to be able to access the vaccine information systems of the different autonomous communities, both to know the vaccination status of patients and to report the doses administered during the period of internment, as well as to improve the vaccine statistics available in prison.(AU)

Paraneoplastic acquired hemophilia A associated with hilar cholangiocarcinoma arising in an intraductal papillary neoplasm of the bile duct / Paraneoplásico adquirido hemofilia A asociada con colangiocarcinoma hiliar que surge en un papilar intraductal neoplasia del conducto biliar

A 74-year-old female was admitted for painless jaundice. Laboratory tests showed hyperbilirubinemia, cholestasis, normal coagulation, and Ca19-9:163U/L. The CT-scan reported dilation of the intrahepatic and extrahepatic bile ducts secondary to a 24mm tumor in the intrapancreatic common bile duct. The magnetic cholangioresonance showed multiple endoluminal polypoid lesions, suggestive of intraductal papillary neoplasm of the bile duct (IPNB). The endoscopic bile duct brushing was non-conclusive.(AU)

Developing Cardio-Oncology Programs in the New Era: Beyond Ventricular Dysfunction Due to Cancer Treatments.

Cardiovascular disease is a common problem in cancer patients that is becoming more widely recognized. This may be a consequence of prior cardiovascular risk factors but could also be secondary to the anticancer treatments. With the goal of offering a multidisciplinary approach to guaranteeing optimal cancer therapy and the early detection of related cardiac diseases, and in light of the recent ESC Cardio-Oncology Guideline recommendations, we developed a Cardio-Oncology unit devoted to the prevention and management of these specific complications. This document brings together important aspects to consider for the development and organization of a Cardio-Oncology program through our own experience and the current evidence.

Paraneoplastic acquired hemophilia A associated with hilar cholangiocarcinoma arising in an intraductal papillary neoplasm of the bile duct.

A 74-year-old female was admitted for painless jaundice. Laboratory tests showed hyperbilirubinemia, cholestasis, normal coagulation, and Ca19-9:163U/L. The CT-scan reported dilation of the intrahepatic and extrahepatic bile ducts secondary to a 24mm tumor in the intrapancreatic common bile duct. The magnetic cholangioresonance showed multiple endoluminal polypoid lesions, suggestive of intraductal papillary neoplasm of the bile duct (IPNB). The endoscopic bile duct brushing was non-conclusive.

Validity and reliability of an android device for the assessment of fall risk in older adult inmates.

AIM: To validate the Android device, FallSkip, as a tool to assess the fallers in older adult inmates. DESIGN: A cross-sectional descriptive and analytical study. METHODS: For the validation of the FallSkip, the diagnostic criterion used was the risk of having suffered a fall during the last year. RESULTS: The results for the FallSkip tool were as follows: sensitivity 60.7%; specificity 83.0%; positive predictive value 65.4%; negative predictive value 80.0%; accuracy 75.3%. In total, 32.1% of participants were found to be at high risk of falls, 23.5% were at mild risk and 7.4% were found to have no risk. CONCLUSION: The FallSkip device is shown to be a very suitable tool for fall risk assessment. The sample studied presented a statistically significant percentage of fall risk, which made it necessary to carry out interventions through physical activities to improve balance and stability.

Control of Peri-Implant Mucous Inflammation by Using Chlorhexidine or Ultraviolet C Radiation for Cleaning Healing Abutments. Double-Blind Randomized Clinical Trial.

Two-phase implants must be exposed to the external environment after the period of osteointegration has elapsed. For this purpose, a healing abutment is placed passing through the mucosa while forming the emergence profile. The continuous connection and disconnection can lead to an alteration in the tissue maturation, both because of the contact of bacterial plaque and because of the mechanical trauma that involves its manipulation, manifesting with different degrees of erythema or bleeding. To assess whether this epithelium disruption can be counteracted, a blinded study design was developed on 150 unitary implant patients divided into three groups (n = 50), applying chlorhexidine (group 1), ultraviolet C (UV-C) at a wavelength of 254 nm (group 2)and no treatment as a control group (group 3), during each of the disconnections and connections during the prosthodontic treatment (1 time per week for four weeks). All groups showed a better epithelium aspect at the end of the evaluation. Although there were no statistically significant differences in the degree of inflammation, the UV-C treated group had the lowest plaque accumulation, and the highest was for the chlorhexidine-treated group.

Forensic implications of the presence of chimerism after hematopoietic stem cell transplantation.

Biological vestiges are used in forensic science to resolve a large number of cases by typing the genetic profile and identifying the individual to whom it belongs. However, chimeric persons that possess cells with two or more different DNA make these types of analyses difficult. This situation can occur naturally, by errors in the fertilization or early embryogenesis, or in an artificial way, for example after hematopoietic stem cell transplantation (HSCT), when host and donor cells coexist in the patient. In this paper, we will specially focus on the latter. The vestiges from transplant patients represent a challenge from a forensic perspective since the interpretation of the genetic fingerprint can be misleading because of the presence of chimerism. Due to the high number of transplant patients (and their increase over the years) and the existence of natural chimeras (probably many of them hidden), it is necessary to consider whether we are facing a possible chimeric person or someone who has been a donor of hematopoietic stem cells in a forensic context. In this review, the presence of donor bone marrow derived cells in some tissues of forensic interest will be discussed. Finally, to emphasize the importance of chimerism after HSCT in forensic genetics, some real-life cases will be examined.

The genetic profile of bone marrow transplant patients in different samples of forensic interest.

Humans constantly lose epithelial cells, and these biological traces are frequently studied in the context of criminal investigations. The objective of this work was to examine the genetic profile in samples of forensic interest (nail and skin epithelial cells) of bone marrow transplant patients and discuss its forensic and clinical implications. The genetic profile of nail, epidermal cells and blood samples of patients receiving HSCT was analyzed by the amplification and sequencing of 38 insertion/deletion polymorphisms and 15 short tandem repeat polymorphisms. In this analysis, the age of patients and donors, the time elapsed from the transplant, the type of conditioning prior to the transplant and whether the patient suffered graft-versus-host disease were considered. Donor chimerism can be detected in the DNA extracted from nail and skin epithelial cells of transplant patients. No statistically significant correlation was found between the type of conditioning and the percentage of donor DNA in nail (p > 0.05). A positive correlation, without statistical significance, was encountered when we analyzed the relationship between the time elapsed from the transplant with the percent donor chimerism found in epithelial cells of the epidermis and in nails. We conclude that within a judicial context (e.g. when testifying as an expert witness) it is necessary to consider whether we are facing a possible transplant patient or a person who has been a bone marrow donor.

Factores asociados al control metabólico en pacientes chilenos con diabetes mellitus tipo 2 / Factors associated with metabolic control in Chilean patients with type 2 diabetes mellitus

Fundamentos: Actualmente, el 8,3% de la población mundial adulta presenta Diabetes Mellitus (DM), estimándose que en 2030 esta enfermedad afectará al 9,9% de la población. El objetivo del presente estudio es determinar qué factores ambientales están asociados a unos óptimos valores de hemoglobina glicosilada A1c (HbA1c) en pacientes con Diabetes Mellitus tipo 2 (DM2). Métodos: Se evaluaron a 722 diabéticos tipo 2 de ambos sexos, entre 27 y 90 años. Los participantes fueron entrevistados en Centros de Salud Familiar de las ciudades de Santiago y Talcahuano. A cada una de las personas se le realizó una evaluación antropométrica, una encuesta de sueño de Pittsburg y se recabó información sobre su consumo de tabaco y actividad física. Resultados: El 37,7% de los sujetos presentaba Hb1Ac <7%; el consumo de tabaco OR=8,38 [IC95% 5,29-13,27] y roncar OR=1,60 [IC95%1,11-2,30] son factores de riesgo para presentar una HbA1c alta, en cambio realizar ejercicios OR=0,532 [IC95% 0,35-0,79] y tener un IMC normal OR=0,58 [0,33-0,86] son factores protectores. Conclusiones: El consumo de tabaco y roncar son factores de riesgo para tener alta HbA1c en cambio el realizar ejercicios de forma regular y tener un IMC normal son factores protectores (AU)

Background: Nowadays, the 8.3% of the adult population worldwide presents Diabetes Mellitus (DM), being estimated that in 2030 this disease will affect 9.9% of the population. The objective of this study is to determine what environmental factors are associated with optimal values of glycosylated hemoglobin 1A, (HbA1c) in patients with type 2 diabetes mellitus (DM2). Methods: 722 type 2 diabetic men and women were evaluated. Participants were interviewed at Family Health Centers of Santiago and Talcahuano. Each person was applied an anthropometric assessment, a Pittsburgh Sleep Quality Survey, and information was collected on their tobacco consumption and physical activity. Results: 37.7% of subjects had HbA1c <7%, tobacco consumption OR=8.38 [95% CI 5.29- 13.27] and snoring OR=1.60 [95% CI 1.11-2.30] are risk factors for making a HbA1c, however exercises OR=0.532 [95% CI 0.35-0.79] and have a normal BMI OR=0.58 [0,33-0,86] are protective factors. Conclusions: Tobacco consumption and snoring are risk factors for having high levels of HbA1c, in contrast practice of regular exercise and a normal BMI are protective factors (AU)

[Not Available]. / Asociación entre nutrientes y hemoglobina glicosilada en diabéticos tipo 2.

Introducción: la hiperglicemia es la característica principal de la diabetes (DM). La restricción de CHO en la dieta presenta el mayor efecto en la disminución de los niveles de glucosa en sangre tanto en DM 1 y 2. Objetivo: asociar la ingesta de macro y micronutrientes con el control metabólico de pacientes con diabetes tipo 2. Material y métodos: se entrevistó a 714 pacientes diabéticos tipo 2 de ambos sexos, entre 27 y 90 años, en centros de salud familiar de Santiago de Chile. Se les aplicó una encuesta alimentaria y una evaluación antropométrica. Se realizó prueba de regresión logística, se estimó además el valor del Odds Ratio (OR) y su correspondiente intervalo de confianza (IC). Resultados: el IMC promedio fue de 30,8 ± 5,7 kg/m2, el 29,8% de los sujetos tenía una HbA1c compensada. Se puede observar que solo la ingesta elevada de carbohidratos (percentil 75) se asoció con un incremento en el riesgo de tener HbA1c elevada OR = 2,7 (IC 95% 1,5-4,8; p < 0,001). Conclusiones: la ingesta elevada de carbohidratos de rápida absorción, altos en sacarosa y bajos en fibra se asocia como factor de riesgo en el incremento de HbA1c. La ingesta total de energía y el patrón de alimentación saludable se debe priorizar sobre la distribución de macronutrientes. Es importante la asesoría de un experto en nutrición especializado en diabetes quien, en colaboración con el equipo médico, debe determinar el tratamiento para cumplir con los objetivos individuales del paciente.

Asociación entre nutrientes y hemoglobina glicosilada en diabéticos tipo 2 / Nutrients and its association with glycosilated hemoglobin in patients with diabetes type 2

Introducción: la hiperglicemia es la característica principal de la diabetes (DM). La restricción de CHO en la dieta presenta el mayor efecto en la disminución de los niveles de glucosa en sangre tanto en DM 1 y 2. Objetivo: asociar la ingesta de macro y micronutrientes con el control metabólico de pacientes con diabetes tipo 2. Material y métodos: se entrevistó a 714 pacientes diabéticos tipo 2 de ambos sexos, entre 27 y 90 años, en centros de salud familiar de Santiago de Chile. Se les aplicó una encuesta alimentaria y una evaluación antropométrica. Se realizó prueba de regresión logística, se estimó además el valor del Odds Ratio (OR) y su correspondiente intervalo de confianza (IC). Resultados: el IMC promedio fue de 30,8 ± 5,7 kg/m2 , el 29,8% de los sujetos tenía una HbA1c compensada. Se puede observar que solo la ingesta elevada de carbohidratos (percentil 75) se asoció con un incremento en el riesgo de tener HbA1c elevada OR = 2,7 (IC 95% 1,5-4,8; p < 0,001). Conclusiones: la ingesta elevada de carbohidratos de rápida absorción, altos en sacarosa y bajos en fibra se asocia como factor de riesgo en el incremento de HbA1c. La ingesta total de energía y el patrón de alimentación saludable se debe priorizar sobre la distribución de macronutrientes. Es importante la asesoría de un experto en nutrición especializado en diabetes quien, en colaboración con el equipo médico, debe determinar el tratamiento para cumplir con los objetivos individuales del paciente (AU)

Introduction: Hyperglycemia is the main characteristic of diabetes (DM). CHO restriction in diet has the greatest effect decreasing blood glucose levels in both type 1 and 2 DM. Objective: To associate intake of macro and micronutrients and metabolic control in patients with type 2 diabetes. Methods: 714 type 2 diabetic men and women between 27 and 90 years were interviewed at family health centers of Santiago de Chile. We applied a food survey and an anthropometric assessment. Logistic regression test was performed. The value of the odds ratio (OR) and its confidence interval (CI) was also estimated. Results: The mean BMI was 30.8 ± 5.7 kg/m2 , 29.8% of the subjects had HbA1c compensated. Only the high intake of carbohydrates (75 percentile) was associated with an increased risk of elevated HbA1c OR = 2.7 (95% CI 1.5 to 4.8; p < 0.001). Conclusions: The high intake of rapidly absorbed carbohydrates, high in sucrose and low in fiber is associated as a risk factor to increase HbA1c. The total energy intake and healthy eating patterns should be prioritized in the distribution of macronutrients. It is important to seek advice from a nutrition expert specialized in diabetes who, together with the medical team, shall determine the best treatment to meet patients’ individual goals (AU)

Identification of new markers of recurrence in patients with unprovoked deep vein thrombosis by gene expression profiling: the retro study.

OBJECTIVE: The aim of this study was to assess differences in the gene expression profile of peripheral blood cells between patients with early recurrent thrombosis vs. patients without recurrent events after withdrawal of anticoagulant therapy for a first episode of unprovoked deep vein thrombosis (uDVT), to identify novel predictors of recurrence. METHODS: In the discovery population (N = 32), a microarray RNA assay followed by RT-PCR confirmation were performed. In the validation population (N = 44) a multiple RT-PCR-based strategy was applied to assess genes differentially expressed in the discovery population. RESULTS: The sex-adjusted Linear Model for Microarray Data analysis showed 102 genes differentially expressed (P < 0.01) in the discovery population. Nineteen of them underwent further confirmation in the validation population. The gene encoding for Acyl-CoA Synthetase Family Member 2 (ACSF2) was underexpressed in recurrent DVT patients in both, the discovery (P = 0.007) and validation populations (P = 0.004). In the receiver operator characteristic (ROC) analysis, the areas under the curve of ACSF2 expression were 0.77 and 0.80, respectively. CONCLUSIONS: For the first time an association between ACSF2 expression and the risk of recurrent DVT is suggested. Should this association be confirmed in larger prospective studies, ACSF2 could become useful for the selection of patients requiring extended anticoagulant therapy.

Bemiparin versus unfractionated heparin as bridging therapy in the perioperative management of patients on vitamin K antagonists: the BERTA study.

BACKGROUND AND OBJECTIVE: The management of patients on vitamin K antagonist therapy who require an invasive procedure is problematic. A randomised, controlled, double-blind clinical trial was designed to compare the efficacy and safety of bemiparin, a low molecular weight heparin (LMWH), with unfractionated heparin (UFH) as bridging therapy: the BERTA (BEmiparin Randomised Trial on bridging Anticoagulants) study. METHODS: Two hundred and six patients on long-term oral anticoagulation therapy (OAT) requiring an invasive procedure were randomized to receive bridging therapy with bemiparin + matching placebo or UFH. OAT was resumed on day 1. The study medication was continued for 5-6 days after the procedure. The primary efficacy endpoint was the combined incidence of arterial and venous thromboembolic events. The primary safety endpoint was the incidence of major bleeding within 10 days after the invasive procedure. RESULTS: There were no thromboembolic events in the bemiparin group, but two events (2.2 %) occurred in the UFH group. No major bleeding occurred in either group, but minor bleeding occurred in four patients (4.3 %) and six patients (6.1 %) in the bemiparin and UHF groups, respectively. No deaths and no cases of severe thrombocytopenia occurred during the whole study period. CONCLUSION: Despite its small size, the BERTA study is the first randomised, double-blind clinical trial comparing UFH with a fixed high-risk thromboprophylactic dose of an LMWH as bridging therapy. There were no thromboembolic events and fewer bleeding episodes in the bemiparin group than in the UFH group, hence we suggest that bemiparin is at least as safe as UFH as bridging therapy.

Perfil de auto anticuerpos y lactancia materna en pacientes diabéticos tipo 1 / Auto-antibody levels and history of breast-feeding in type 1 diabetic patients

Background: Islet cell-specific autoantibodies such as islet cell antibody (ICA), antiinsulin (IAA), anti-glutamic acid decarboxylase (GAD) and anti-tyrosine phosphatase (IA2) can be present in patients with type I diabetes. Breast feeding duration and the early exposure to milk substitutes are environmental factors associated to etiology of type 1 diabetes. Aim To study the frequency of the anti-GAD, anti-IA-2 e ICA antibodies in Chilean type 1 diabetic patients and determine the possible modulator effect of the breast feeding. Patients and methods: One hundred thirty four type I diabetic patients, aged one to 15 years old, were studied at the moment of their diagnosis. Patients were classified according to the duration of exclusive breast feeding. IA-2 and GAD were determined by radio immuno assay and ICA by means of indirect immunofluorescence. Results: Subjects with three months or less and those with more than three months of breast feeding were positive for ICA in 78.8 and 90.6 per cent of cases respectively, for GAD in 75 and 54.6 per cent of cases respectively (p=0.024) and for IA-2 in 73 and 43.8 per cent of cases respectively (p=0.001). All three antibodies were positive in 53.9 and 21.8 per cent of children with less or more than three months of breast feeding (p=0.001). Conclusion: Both IA-2 and GAD antibodies are less frequently positive in type 1 diabetic patients who have been breast fed for more than three months. These findings suggest a possible attenuating role of exclusive breast feeding on pancreatic aggression events in patients with type 1 diabetes

La dieta en el tratamiento de la obesidad / Diet in the treatment of obesity

Para controlar la obesidad es preciso lograr un balance energético negativo mediante la reducción de la ingesta y un aumento del gasto. La reducción de la ingesta energética debe permitir perder peso a una velocidad satisfactoria, cubriendo las necesidades de nutrientes esenciales. Se recomienda consumir 1,2 a 1,5 g de proteínas por kg de peso aceptable, según las recomendaciones ajustadas a una dieta mixta. Para cubrir las necesidades de ácidos grasos esenciales (AGE), se recomienda pequeñas cantidades de aceites de girasol u oliva (AG n-6) y el consumo de pescados grasos 2 a 3 veces por semana, además de aceite de canola, raps o soya, también en poca cantidad (AGE n-3). Los carbohidratos deben ser complejos, con un bajo índice glicémico y un elevado contenido de fibra dietética. Se destaca la necesidad de cubrir las necesidades de calcio, hierro; vitamina E (como atocoferol) vitamina C, B caroteno y otros antioxidantes, que contribuyen a la prevención de las enfermedades asociadas a la obesidad. Se concluye que la educación en nutrición orientada a lograr cambios de conducta y condiciones ambientales favorables, constituyen la base para adaptarse a un nuevo estilo de vida que permita controlar la obesidad

Asociación obesidad y leptina en tres poblaciones aborígenes de Chile / Body mass index and leptin levels in 3 Chilean aborigin populations

Background: Although there is a clear relationship between body mass index and leptin levels, few authors have addressed the possible influence of ethnic factors on these levels. Aim: To measure serum leptin in three different Chilean aboriginal populations. Subjects and methods: Fasting serum leptin and insulin levels were measured by radioimmunoassay in 345 rural mapuche individuals, 247 rural aymara subjects and 162 urban mapuche subjects. A body mass index of 27.5 kg/m2 was used as cutoff point to classify study subjects. Results: Among the three ethnic groups, women had serum leptin levels three times higher than men. In all three ethnic groups, there was a significant association between leptin levels, body mass index and gender (r2= 0.32 and 0.5 p <0.001, in rural mapuche, r2= 0.32 and 0.5 p <0.001, in aymara and r2= 0.24 and 0.49, p <0.001 in urban mapuche populations). No differences in leptin levels were observed for the interaction between age and insulin. The increments per quartile in leptin levels were lower among mapuche than aymara individuals. Conclusions: Rural mapuche individuals have a high frequency of obesity. However their leptin levels are lower than those of aymara or urban mapuche populations. The higher leptin levels observed in urban mapuche subjects could be due to environmental influences

Prevalencia de obesidad, hipertensión arterial y dislipidemia en grupos aborígenes rurales de Chile / Prevalence of obesity, hypertension and serum lipid profiles in chilean rural aboriginal communities

Background: Chilean aboriginal ethnic groups (mapuche and aymaras) have a very low prevalence rate of type 2 diabetes. The investigation of a possible relationship between this low prevalence of diabetes and obesity, hypertension and serum lipid profiles in both groups is worthwhile. Aim: To study the prevalence of obesity, hypertension and lipid profile in two chilean aboriginal communities. Subjects and Methods: The prevalence of obesity, hypertension, fasting serum total cholesterol, HDL cholesterol, triglycerides, glucose, insulin, leptin and oral glucose tolerance test were measured in 345 mapuche (106 male) and 247 aymara (100 male) individuals. Results: Sixty three percent of mapuche women, 37.9 percent of mapuche men, 39.7 percent of the aymara women and 27.0 percent of aymara men had a body mass index over 27 kg/m2. Twenty percent of mapuche men, 18.0 percent of mapuche women, 9.0 percent of aymara men and 4.8 percent of the aymara women had high blood pressure values. Serum HDL cholesterol was below 35 mg/dl in 16 percent of mapuche women, 14 percent of mapuche men, 25 percent of the aymara women and 27 percent of aymara men. No differences in total cholesterol levels were observed between mapuches and aymaras. Conclusion: Mapuche women have higher prevalence of obesity and high blood pressure than aymara women. Low serum HDL cholesterol has a higher prevalence among aymara individuals

Haplotipos HLA en familias chilenas con diabetes tipo 1 / HLA haplotypes in families with type 1 diabetes

Background: Inherited susceptibility to type 1 diabetes is partially determined by HLA genes. HLA-DQA1 and DQB1 alleles have been chosen as the most sensitive susceptibility markers. Family studies are a good method to establish specific relationship between type 1 diabetes and specific haplotypes as risk markers for the disease. Aim: To analyse the role of class II HLA molecules and the distribution of haplotypes in the genetic predisposition to type 1 diabetes in Chilean families. Material and methods: Twelve family groups constituted by 58 individuals were studied. Fourteen children (10 male) less than 15 years old with diabetes and their family members were included. The allele and haplotype frequency of the population was determined in 74 unrelated healthy children. Results: Risk haplotypes such as HLA-DR3/DQB1*0201/DQA1*0501 and HLA-DQB10302/DQA1*0501 were more common among diabetic patients and comparable to the haplotypes described in other Caucasian populations. Meanwhile, protective haplotypes found in relatives without diabetes, such as HLA-DR2/DQB1*0301/DQA1*0301 and HLA-DR8/DQB1*0402/DQA1*0301, were absent in children with diabetes. Conclusions: The general pattern of neutral or protective haplotypes, found with higher frequency in non diabetic individuals, indicates that their presence could confer protection against the disease, with a higher effect over those haplotypes associated to the disease

Polimorfismos del gen de lipoproteína lipasa en diabéticos no insulino-dependientes: estudio preliminar / Lipoprotein gene polymorphism in non dependent diabetics: preliminary study

Background: Lipoprotein lipase plays a crucial role in plasma lipoprotein metabolism. Several lipoprotein lipase gene polymorphisms have been found associated with lipid levels, premature atherosclerosis and cardiovascular disease. Aim: To investigate, in the Chilean population, the genotype distribution of lipoprotein lipase polymorphism and its possible association with lipid levels and obesity. Patients and methods: Hind III and Pvu II polymorphism was determined in 45 non-insulin-dependent diabetic patients and in 52 non diabetic controls from Santiago, Chile. Results: Hind III (+/+) polymorphism had a higher frequency in diabetics as compared to controls (0.6 and 0.29 respectively, p= 0.009). The frequency of heterozygous distribution was higher in non diabetic subjects. Controls and diabetics had comparable gene frequencies for the Pvu II genotype distribution. Analyzing the impact of these polymorphisms on plasma lipid levels, Hind III (+/+) genotype was associated with high Levels of total cholesterol and triglycerides in both groups. The hterozygote (+/-) or homozygote (-/-) state for Hind III was effectively associated with high levels of HDL cholesterol levels, as compared to the (+/+) genotype. There was no relationship between these genotypes and body mass index and waist to hip ratio. Conclusions: An association between genetic variation at the lipoprotein lipase locus with high levels of triglycerides and total cholesterol was confirmed. However, no association of these genetic markers with anthropometric measurements was found

Diabetes mellitus insulino-dependiente en Santiago de Chile: rol patogénico de factores inmunogenéticos y ambientales / Insulin-dependent diabetes mellitus in Santiago, Chile: pathogenic role of immunogenetic and environmental factors

The role of HLA class II alleles in the genetic susceptibility to develop insulin-dependent diabetes mellitus (IDDM) was examined by means of PCR and oligospecific probes in 63 IDDM children and 74 controls subjects. In diabetic patients we found a significant increase in the alleles frequency DR3, DR4, DQB1*0302 and DQA1*0301 compared to the control group, where the most prevalent alleles were DR2, DR14 (DRB1*1402), DQA1*0101 and DQA1*0201. All the risk genotypes in the diabetic group were similar than in other caucasian groups: DR3/DR4-DQB1*0201/0302-DQA1*0301/0501 and DR4/DR4-DQB1*0302/0302-DQA1*0301/0301. The homozygote character no asp57 conferred an absolute risk (AR) of 3.87 and the marker Arg52 an AR of 5.78/100.000 hab year. The homozygosis for both markers (no Asp57+Arg52) had an AR of 7.56/100.000 hab year. Regarding environmental factors associated with IDDM, our population under study showed a low prevalence of infectious agents (mainly mumps and rubella, specifically associated with IDDM) and a high prevalence of effective breast-feeding (over 3 months). These factors could be exercising a protector role in the development of IDDM. The factors that appear to be important in the low incidence of IDDM, the high percentage of breast-feeding children in the population, the reduced frequency of susceptible molecules as DR3, DQB1*0201 (compared to other caucasian groups) and the presence of protective genotypes related to DR13 and DR14 observed in the non diabetic children