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1.
Med. infant ; 30(1): 3-7, Marzo 2023. Tab
Article in Spanish | LILACS, UNISALUD, BINACIS | ID: biblio-1427764

ABSTRACT

Introducción: Según numerosos reportes, la pandemia por COVID­19 aumentó la incidencia de diabetes tipo 1 (DBT1) y cetoacidosis (CAD). Nuestro objetivo fue describir la frecuencia de nuevos casos de DBT1 y su severidad al ingreso en el Hospital J. P. Garrahan durante la pandemia, comparando con el periodo anterior. Material y métodos: Se realizó un estudio descriptivo, observacional, con análisis retrospectivo. Se incluyeron todos los nuevos casos entre 19/03/20- 31/12/21, comparados con el período 19/03/18-31/12/19. El diagnóstico de DBT1, CAD y su severidad se realizó según la International Society for Pediatric and Adolescent Diabetes. Se analizó el requerimiento de cuidados intensivos (UCI), presencia de COVID-19, hemoglobina glicosilada A1C (HbA1C) y autoanticuerpos (GADA, IAA, IA2, ZNT8). Se consideró significativa una p < 0,05. Resultados: En el período 2020-2021 se observó un incremento del 107% de nuevos casos, ingresando 56 pacientes con DBT1. La media y mediana de edad disminuyeron (8 vs 9,1 y 7,7 vs 10,4, respectivamente), con un incremento del 35% de menores de 5 años. Aumentó la frecuencia de CAD severa (41.1% vs 25.9%) y de requerimiento de UCI (17.9% vs 11.1%). La Hb A1C y la glucemia de ingreso mostraron incremento significativo (10.1% vs 12.32%, p<0.003 y 580 mg/dl ± 220 vs 490 mg/dl ± 188; p<0.05, respectivamente). Conclusión: En 2020-2021 se incrementó el número de nuevos casos de DBT1 en nuestra institución. Al ingreso hubo mayor proporción de niños pequeños y casos severos. Las dificultades de acceso a la consulta de atención primaria podrían relacionarse con nuestro hallazgo (AU)


Introduction: Numerous reports have shown that during the COVID-19 pandemic the incidence of type-1 diabetes (T1DB) and ketoacidosis (DKA) increased. The aim of this study was to describe the frequency of new cases and their severity on admission of T1DB at Hospital J. P. Garrahan during the pandemic, compared with the previous period. Material and methods: A descriptive, observational study with a retrospective analysis was conducted. All new cases seen between 19/03/20-31/12/21 were included and compared with the period 19/03/18-31/12/19. The diagnosis of T1DB, DKA, and its severity was made according to the International Society for Pediatric and Adolescent Diabetes. Intensive care (ICU) requirement, presence of COVID-19, glycosylated hemoglobin A1C (HbA1C), and autoantibodies (GADA, IAA, IA2, ZNT8) were analyzed. A p < 0.05 was considered significant. Results: In the period 2020-2021, a 107% increase in new cases was observed including 56 patients with T1DB. Mean and median age decreased (8 vs 9.1 and 7.7 vs 10.4, respectively), with a 35% increase in children under 5 years of age. The frequency of severe DKA (41.1% vs 25.9%) and ICU requirement (17.9% vs 11.1%) increased. Hb A1C and glycemia on admission also showed a significant increase (10.1% vs 12.32%, p<0.003 and 580 mg/dl ± 220 vs 490 mg/dl ± 188; p<0.05, respectively). Conclusion: In 2020-2021 an increase in the number of new cases of T1DB was observed at our institution. On admission, a higher rate of young children and severe cases was found. Difficulties to access primary care may have been related to our finding (AU)


Subject(s)
Humans , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Diabetic Ketoacidosis/epidemiology , Diabetes Mellitus, Type 1/epidemiology , COVID-19/epidemiology , Hospitals, Pediatric , Severity of Illness Index , Incidence , Retrospective Studies
2.
Rev. chil. endocrinol. diabetes ; 16(1): 7-9, 2023. ilus
Article in Spanish | LILACS | ID: biblio-1438475

ABSTRACT

INTRODUCCIÓN: La diabetes mellitus tipo 1 (DM1) es una patología crónica que se asocia a complicaciones a largo plazo y a elevados costos en salud. La incidencia de DM1 varía en distintas zonas geográficas, pero se ha observado un aumento global de su incidencia en los últimos años. OBJETIVO: Determinar la incidencia de DM1 en la población menor de 20 años en Chile en el período comprendido entre los años 2010 a 2019. MÉTODOS: Se realiza un estudio descriptivo de corte transversal. Los datos son obtenidos a través de FONASA (Fondo Nacional de Salud), de pacientes que fueron notificados como DM1 durante los años 2010 a 2019. Se calcula la incidencia por 100.000 habitantes según datos obtenidos y población inscrita en FONASA. Se evalúa incidencia según sexo y rango etario. RESULTADOS: Se notificó un total de 3.997 casos de DM1 en el período estudiado, el 51,3% corresponde a pacientes del sexo masculino. Del total de casos un 12% corresponde a pacientes menores de 5 años. La incidencia global aumentó de un 9.18 por 100.000 habitantes el año 2010 a 13.3 por 100.000 habitantes en el año 2019. Este aumento fue estadísticamente significativo en la población de 10 a 14 años y 15 a 19 años. DISCUSIÓN: La incidencia de DM1 ha ido en aumento en los últimos años en Chile, cambiando en las últimas décadas de ser un país de baja incidencia a uno de incidencia intermedia.


INTRODUCTION: Type 1 diabetes mellitus (DM1) is a chronic disease that is associated with long-term complications and elevated health costs. The incidence of DM1 varies in different geographic zones, but a global increase in its incidence has been observed in recent years. OBJECTIVES: Determine the incidence of DM1 in the population under 20 years of age in Chile in the period between 2010 and 2019. METHODS: A descriptive cross-sectional study was carried out. The data were obtained through FONASA (National Health Fund), from patients who were notified as DM1 during the years 2010 to 2019. The incidence rates were calculated per 100.000 population, according to data obtained and registered in FONASA. The incidence rates were evaluated according to sex and age range. RESULTS: A total of 3.997 cases of DM1 were reported in the study period, 51.3% were male patients. Of the total cases, 12% were patients under 5 years of age. The global incidence increased from 9.18 per 100.000 in 2010 to 13.3 per 100.000 in 2019. This increase was statistically significant in the population aged 10 to 14 and 15 to 19 years. DISCUSSION: The incidence of DM1 has been increasing in the last years in Chile, changing in recent decades from being a country of low incidence to one of intermediate incidence.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Young Adult , Diabetes Mellitus, Type 1/epidemiology , Chile/epidemiology , Incidence , Cross-Sectional Studies , Age and Sex Distribution
3.
Rev. cuba. pediatr ; 94(3)sept. 2022. tab
Article in Spanish | LILACS, CUMED | ID: biblio-1409152

ABSTRACT

Introducción: La asociación entre enfermedad celíaca y diabetes mellitus tipo 1 se ha publicado con mayor frecuencia que la enfermedad celíaca aislada, cuya historia natural puede variar considerablemente, con evidencia de síntomas gastrointestinales en la minoría de los pacientes. Objetivo: Caracterizar a pacientes con diabetes mellitus tipo 1 y enfermedad celíaca. Método: Estudio observacional, descriptivo y transversal en 63 niños atendidos en el Hospital Pediátrico Docente Centro Habana entre los años 2016-2017 con diagnóstico de diabetes mellitus tipo 1. Las variables estudiadas se expresaron en valores absolutos y relativa, medida de tendencia central y de dispersión. Resultados: El sexo masculino representó 58,73 por ciento de los pacientes, la mayoría entre 10 y 14 años de edad. El anticuerpo antitransglutaminasa fue positivo en menos de 10 por ciento de los niños, generalmente sin síntomas, signos o hallazgos relacionados con la enfermedad celíaca. La frecuencia de ambas enfermedades en los pacientes estudiados fue de 3,17 por ciento. Conclusiones: La diabetes mellitus tipo 1 predomina en el sexo masculino a diferencia de la enfermedad celíaca que se diagnostica en pacientes femeninas. Los resultados de anticuerpos antitransglutaminasa son negativos en la mayoría de los pacientes mientras que los positivos tienen más de un año de evolución de la diabetes, se encuentran eutróficos o sobrepeso, asintomáticos y con valores ligeramente superiores de hemoglobina glucosilada(AU)


Introduction: The association between celiac disease and type 1 diabetes mellitus has been published more frequently than isolated celiac disease, whose natural history can vary considerably, with evidence of gastrointestinal symptoms in the minority of patients. Objective: To characterize patients with type 1 diabetes mellitus and celiac disease. Method: Observational, descriptive and cross-sectional study in 63 children treated at Centro Habana Pediatric Teaching Hospital between the years 2016-2017 with a diagnosis of type 1 diabetes mellitus. The variables studied were expressed in absolute and relative values, a measure of central tendency and dispersion. Results: Males accounted for 58.73 percent of the patients, most of them between 10 and 14 years old. The anti-transglutaminase antibody was positive in less than 10 percent of the children, usually without symptoms, signs, or findings related to celiac disease. The frequency of both diseases in the patients studied was 3.17 percent. Conclusions: Type 1 diabetes mellitus predominates in males unlike celiac disease which is diagnosed in female patients. The results of anti-transglutaminase antibodies are negative in most patients while the positive ones have more than a year of evolution of diabetes, are eutrophic or overweight, asymptomatic and with slightly higher values of glycosylated hemoglobin(AU)


Subject(s)
Male , Female , Child , Adolescent , Celiac Disease , Transglutaminases , Diabetes Mellitus, Type 1/epidemiology , Epidemiology, Descriptive , Cross-Sectional Studies , Observational Study
4.
Rev. cuba. med ; 61(2): e2637, abr.-jun. 2022. tab, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1408993

ABSTRACT

Introducción: Los autoanticuerpos anti-insulina (AAI) representan un marcador serológico de la diabetes tipo 1 (DT1). El significado clínico de los AAI aún no ha sido determinado en la población cubana. Objetivo: Determinar el valor clínico de AAI en pacientes con DT1. Métodos: Se determinaron los niveles séricos de AAI por el ensayo inmuno-adsorbente ligado a enzima (ELISA) en 33 pacientes adultos con DT1, 78 pacientes con otras condiciones endocrinas (CEE) como diabetes tipo 2, tiroiditis de Hashimoto e hiperinsulinemia, y 49 controles normales (CN). El valor de corte se determinó con el análisis de las curvas características operativas del receptor (COR) (ROC por sus siglas en inglés). Se utilizaron pruebas no paramétricas para comparar los niveles de AAI de pacientes con DT1, CEE y CN, y determinar la correlación entre AAI y la edad. Resultados: El valor de corte óptimo de AAI para DT1 fue el índice de 1,05, con sensibilidad de 45,5 por ciento, especificidad de 81,6 por ciento, razón de verosimilitud positiva de 2,47, y razón de verosimilitud negativa de 0,67. Los niveles de AAI en DT1 (índice de 0,97) fueron significativo, más altos que los de CN (índice de 0,70; p=0,020) y los de CEE (índice de 0,63; p= 0,009). Los niveles de AAI resultaron inversamente proporcionales a la edad en pacientes diabéticos ( =-0,252; p=0,030). Conclusiones: Los pacientes con DT1 se distinguieron por niveles más altos de AAI, aunque la presencia de estos anticuerpos no fue exclusiva de DT1. Los niveles de AAI dependieron de la edad en los pacientes diabéticos(AU)


Introduction: Anti-insulin autoantibodies (AAI) represent a serological marker of type 1 diabetes (T1D). The clinical significance of AAIs has not yet been determined in the Cuban population. Objective: To determine the clinical value of AAI in patients with T1D. Methods: AAI serum levels were determined by enzyme-linked immunosorbent assay (ELISA) in 33 adult patients with T1D, 78 patients with other endocrine conditions (CEE) such as type 2 diabetes, Hashimoto's thyroiditis, and hyperinsulinemia, and 49 normal controls (CN). The cut-off value was determined by receiver operating characteristic (ROC) curve analysis. Nonparametric tests were used to compare the AAI levels of patients with T1D, CEE, and CN, and to determine the correlation between AAI and age. Results: AAI optimal cut-off value for T1D was the index of 1.05, with 45.5 percent of sensitivity, 81.6 percent specificity, 2.47 positive likelihood ratio, and 0.67 negative likelihood ratio. AAI levels in DT1 (index of 0.97) were significant, higher than those of CN (index of 0.70; p= 0.020) and CEE levels (index of 0.63; p= 0.009). AAI levels were inversely proportional to age in diabetic patients (ρ = -0.252; p=0.030). Conclusions: Patients with T1D were distinguished by AAI higher levels, although the presence of these antibodies was not exclusive to T1D. AAI levels depended on age in diabetic patients(AU)


Subject(s)
Humans , Male , Female , Autoantibodies , Enzyme-Linked Immunosorbent Assay/methods , Diabetes Mellitus, Type 1/epidemiology , Cuba , Insulin Antibodies
5.
Arch. endocrinol. metab. (Online) ; 66(1): 88-91, Jan.-Feb. 2022. tab
Article in English | LILACS | ID: biblio-1364299

ABSTRACT

ABSTRACT We assess the severity and frequency of diabetic ketoacidosis (DKA) in new-onset type 1 diabetes mellitus (T1D) patients and in patients with previous diagnosis of T1D in a referral Brazilian university hospital in the first five months of the COVID-19 pandemic. We also compare the data with data from pre-pandemic periods. Forty-three new-onset T1D patients were diagnosed between April and August of the years 2017, 2018, 2019, and 2020. During the COVID-19 pandemic, the number of new-onset T1D was over twice the number of new-onset T1D in the same period in the three previous years. All the 43 patients survived and are now on outpatient follow-up. We also compared the characteristics of the T1D patients hospitalized between April and August of the years 2017, 2018, and 2019 (32 hospitalizations) to the characteristics of the T1D patients hospitalized between April and August/2020 (35 hospitalizations; 1 patient was hospitalized twice in this period). Fourteen of the 34 patients admitted during the pandemic presented with COVID-19-related symptoms (any respiratory symptom, fever, nausea, vomiting, and diarrhea), but only one had positive SARS-CoV-2 RT-PCR test. Samples from 32 out of these 34 patients were assayed for SARS-CoV-2 antibodies, and four patients were positive for total antibodies (IgM and IgG). In agreement with recent reports from European countries, we observed increased frequency of DKA and severe DKA in new-onset and previously diagnosed T1D children and adolescents in a large referral public hospital in Brazil in the first five months of the COVID-19 pandemic. The reasons for this outcome might have been fear of SARS-CoV-2 infection in emergency settings, the more limited availability of primary healthcare, and the lack of school personnel's attention toward children's general well-being.


Subject(s)
Humans , Child , Adolescent , Diabetic Ketoacidosis/epidemiology , Diabetes Mellitus, Type 1/epidemiology , COVID-19/epidemiology , Brazil/epidemiology , Pandemics , SARS-CoV-2
6.
Arch. endocrinol. metab. (Online) ; 65(6): 684-694, Nov.-Dec. 2021. tab, graf
Article in English | LILACS | ID: biblio-1350000

ABSTRACT

ABSTRACT Objectives: To assess the prevalence of psychiatric disorders in patients with type 1 diabetes mellitus (T1D) and to compare patients with and without psychiatric disorder. Materials and methods: We made a cross-sectional study including patients with T1D assisted in the outpatient clinics of the Brazilian National Health System. To assess depression and anxiety, we used the PHQ-9 questionnaire and the DSM-5th edition criteria, respectively. B-PAID evaluated the level of emotional distress associated with diabetes; EAT-26, eating disorders; SCI-R, adherence to the proposed clinical treatment. Results: We analyzed 166 patients aged 33 (22-45.2) years, 53.6% female. The prevalence of depression and anxiety was 20.5% and 40.4%, respectively. HbA1c was worse in the depressed (9.0% vs. 8.4%, p = 0.008), in the anxious ones (9.0% vs. 8.3%, p = 0.012) and in the patients with high levels of B-PAID (8.8 % vs. 8.3 %, p = 0.009). There was no difference in the prevalence of complications related to diabetes. Conclusions: The prevalence of psychiatric disorders and emotional distress related to diabetes was high in our population of T1D patients, and depression and high levels of B-PAID were associated with the worse glycemic control.


Subject(s)
Humans , Male , Female , Diabetes Mellitus, Type 1/complications , Diabetes Mellitus, Type 1/epidemiology , Psychological Distress , Mental Disorders , Cross-Sectional Studies , Depression/etiology , Depression/epidemiology , Glycemic Control
7.
Rev. invest. clín ; 73(4): 222-230, Jul.-Aug. 2021. tab, graf
Article in English | LILACS | ID: biblio-1347568

ABSTRACT

Background: Information regarding diagnosis, treatment, and follow-up of patients with type 1 diabetes (PWT1D) in Mexico is limited. We developed an on-line platform Registro Nacional de Pacientes con Diabetes Tipo 1 (RENACED-DT1). Objective: The objective of the study was to describe the characteristics and healthcare of PWT1D registered in RENACED-DT1. Methods: Analyses of 965 PWT1D from July 2014 to January 2018 in different endocrinology clinics around Mexico. Results: Sixty-one percent were female with median age of 21 years, age at diagnosis 11 years, and disease duration at inclusion 8.2 years. Treatment regimen was basal-bolus in 61% and insulin-pumps in 21% (mainly in the private sector); 33.3% with self-monitoring of blood-glucose (SMBG) ≥4 times/day. Mean HbA1c at last follow-up was 8.7 ± 2.1% (72±23 mmol/mol), 18% had HbA1c < 7% (53 mmol/mol), and 35% > 9% (75 mmol/mol). SMBG ≥ 4 times/day was associated with HbA1c < 7%. Time since diagnosis > 10 years, female sex, BMI ≥ 30 kg/m2, SMBG < 4 times/day, and any hypoglycemia were associated with microvascular complications (p < 0.05). Conclusions: Percentage of patients achieving HbA1c < 7% is low; increased blood glucose monitoring is associated with better glycemic control. The achievement of optimal glycemic control must be increased to reduce the incidence of chronic complications and improve quality of life in PWT1D.


Subject(s)
Humans , Male , Female , Child , Adolescent , Young Adult , Diabetes Mellitus, Type 1/therapy , Diabetes Mellitus, Type 1/epidemiology , Quality of Life , Blood Glucose , Glycated Hemoglobin/analysis , Blood Glucose Self-Monitoring , Registries , Hypoglycemic Agents , Insulin , Mexico/epidemiology
8.
Rev. méd. Chile ; 149(3): 330-338, mar. 2021. ilus, graf
Article in Spanish | LILACS | ID: biblio-1389451

ABSTRACT

Background: Previous studies have assessed the role of Type 1 diabetes (DM1) antibodies as predictors of the natural history of disease. Aim: To determine the frequency and combinations of positivity for DM1 antibodies in patients with DM1 and the relationship between antibody positivity and the age of the patient. To explore the relationship between history of insulin therapy or diabetic ketoacidosis (DKA) at the onset of the disease with antibody positivity in a subsample. Material and Methods: Data was gathered from every sample processed for DM1 antibodies in our laboratory between January 2015 and September 2019. Medical records from 84 patients who tested positive for at least one antibody were revised to study the relationship between insulin therapy or DKA at the onset of the disease with antibody positivity. Results: Forty percent of DM1 antibody tests were positive. Among positive tests, 1, 2, 3 or 4 DM1 antibodies were detected in 48%, 33%, 17% and 3% of cases, respectively. The likelihood of testing positive was inversely related with age for ICA, GAD, IA-2, ZnT8 and directlyproportionalforIAA (p= −0,012; −0,013; −0,014; −0,009; 0,005 respectively). An association between DKA at the onset of the disease and IA-2 positivity was observed (Odds ratio (OR) 5.38 95% confidence intervals (CI) 1.79 − 16.16, P < 0.01). No association was found between IAA positivity and history of insulin therapy (OR 2.25 95%CI 0.63 − 7.90, P = 0.2403). The results obtained from this study represent a novel local profile of DM1 antibody data, highlighting a relationship between antibody positivity and age.


Subject(s)
Humans , Diabetic Ketoacidosis/epidemiology , Diabetes Mellitus, Type 1/drug therapy , Diabetes Mellitus, Type 1/epidemiology , Autoantibodies , Chile/epidemiology , Insulin/therapeutic use
9.
Arch. endocrinol. metab. (Online) ; 65(5): 562-569, 2021. tab
Article in English | LILACS | ID: biblio-1345194

ABSTRACT

ABSTRACT Objective: People with Down's syndrome (DS) have a higher risk of developing type 1 diabetes mellitus (T1D) and may have specific clinical features compared to T1D patients without DS. This study evaluated the clinical and laboratory aspects of T1D in children and adolescents with DS in an admixed population. Subjects and methods: A case-control study comparing patients with T1D and DS (T1D+DS) to patients with T1D without DS (T1D controls) from two tertiary academic Hospitals in São Paulo, Brazil. Results: The sample consisted of 9 patients with T1D+DS and 18 T1D age and sex-matched controls. Anti-glutamic acid decarboxylase 65 antibodies were positive in 7/7 of the 9 T1D+DS patients, confirming the presence of diabetes autoimmunity in this group. Mean age at diagnosis of T1D was 4.9 ± 3.9 years in the T1D+DS group and 6.4 years ± 3 in the T1D control group; early diagnosis (<2 years old) occurred in three T1D+DS patients but only in one T1D control patients, both suggesting lower age of diagnosis in T1D+DS group, although without statistical significance (p = 0.282 and p = 0.093, respectively). The T1D+DS group presented lower total insulin dose (0.7 IU/kg/day ± 0.2) and HbA1c (7.2% ± 0.6) than the control group (1.0 IU/kg/day ± 0.3 and 9.1% ± 0.7, respectively) (p = 0.022 and p = 0.047, respectively). Conclusion: We confirmed the autoimmune etiology of diabetes in people with DS in this admixed population. T1D+DS patients developed diabetes earlier and achieved better metabolic control with a lower insulin dose than T1D controls. These findings are in agreement with previous studies in Caucasian populations.


Subject(s)
Humans , Child, Preschool , Child , Adolescent , Down Syndrome/complications , Diabetes Mellitus, Type 1/complications , Diabetes Mellitus, Type 1/epidemiology , Brazil/epidemiology , Autoimmunity , Case-Control Studies
10.
Rev. enferm. UERJ ; 28: e49109, jan.-dez. 2020.
Article in English, Portuguese | LILACS, BDENF | ID: biblio-1146588

ABSTRACT

Objetivo: verificar associação entre diabetes mellitus e doenças oculares em pessoas com deficiência visual. Método: estudo transversal com 51 pessoas com diabetes e deficiência visual, em um centro de reabilitação visual do interior paulista, que participaram de entrevista estruturada, em 2018. Utilizou-se os testes: Kolmogorov Smirnov, Regressão de Poisson, Regressão de Logística Binária, e Correlação de Spearman. Resultados: a maioria das pessoas era cega e relatou que a retinopatia diabética, o glaucoma e a catarata foram causa da deficiência visual; com tempo de diagnóstico do diabetes acima de 109 meses. A catarata apresentou um nível de correlação baixa (r=0,280 e p=0,047), e a retinopatia diabética um nível de correlação moderada (r=0,565 e p=0,000), considerando o tempo de diagnóstico do diabetes. Conclusão: associação estatisticamente significante entre o tipo de diabetes e a retinopatia, e correlação estatisticamente significante entre o tempo de diagnóstico do diabetes, a catarata e a retinopatia diabética.


Objective: to verify the association between diabetes mellitus and eye diseases in people with visual impairment. Method: this cross-sectional study involved 51 people with diabetes and visual impairment at a Visual Rehabilitation Center in São Paulo, who participated in a structured interview in 2018. The tests used were: Kolmogorov Smirnov, Poisson Regression, Binary Logistic Regression, and Spearman Correlation. Results: most participants were blind, reported that diabetic retinopathy, glaucoma and cataracts were the causes of their visual impairment, and had been diagnosed with diabetes over 109 months earlier. Cataract returned a low level of correlation with time with diagnosis of diabetes (r = 0.280 and p = 0.047), and diabetic retinopathy, moderate correlation (r = 0.565 and p = 0.000). Conclusion: a statistically significant association was found between type of diabetes and retinopathy, and statistically significant correlations between the time diagnosed with diabetes, cataracts and diabetic retinopathy.


Objetivo: verificar la asociación entre diabetes mellitus y enfermedades oculares en personas con discapacidad visual. Método: este estudio transversal involucró a 51 personas con diabetes y discapacidad visual en un Centro de Rehabilitación Visual en São Paulo, quienes participaron en una entrevista estructurada en 2018.Las pruebas utilizadas fueron: Kolmogorov Smirnov, Regresión de Poisson, Regresión Logística Binaria y Spearman Correlación. Resultados: la mayoría de los participantes eran ciegos, informaron que la retinopatía diabética, el glaucoma y las cataratas eran las causas de su discapacidad visual y habían sido diagnosticados con diabetes más de 109 meses antes. La catarata devolvió un bajo nivel de correlación con el tiempo con el diagnóstico de diabetes (r = 0,280 yp = 0,047) y la retinopatía diabética, correlación moderada (r = 0,565 yp = 0,000). Conclusión: se encontró asociación estadísticamente significativa entre tipo de diabetes y retinopatía, y correlaciones estadísticamente significativas entre el tiempo de diagnóstico de diabetes, cataratas y retinopatía diabética.


Subject(s)
Humans , Male , Female , Middle Aged , Aged , Vision Disorders/epidemiology , Cataract/epidemiology , Glaucoma/epidemiology , Diabetes Mellitus, Type 1/epidemiology , Diabetes Mellitus, Type 2/epidemiology , Diabetic Retinopathy/epidemiology , Brazil/epidemiology , Logistic Models , Poisson Distribution , Prevalence , Risk Factors , Statistics, Nonparametric , Visually Impaired Persons/statistics & numerical data , Diabetes Mellitus, Type 1/diagnosis , Diabetes Mellitus, Type 2/diagnosis
11.
Arch. endocrinol. metab. (Online) ; 64(5): 584-590, Sept.-Oct. 2020. tab
Article in English | LILACS | ID: biblio-1131123

ABSTRACT

ABSTRACT Objective In this study, we aimed to determine the frequency of and the clinical and metabolic features of patients with latent autoimmune diabetes in adults (LADA) at a single center in Turkey. Subjects and methods Patients over 30 years of age diagnosed with type 2 diabetes who did not require insulin for a minimum of 6 months following diagnosis were included. Data from 324 patients (163 women; 161 men), with a mean age of 54.97 ± 7.53 years, were analyzed in the study. Levels of antibodies to glutamate decarboxylase (anti-GAD) were measured in all patients, and LADA was diagnosed in patients testing positive for anti-GAD antibodies. Results Anti-GAD positivity was identified in 5 patients (1.5%). Family history of diabetes, body mass index (BMI), age, sex distribution, insulin resistance, serum triglycerides, high-density lipoprotein, and low-density lipoprotein were similar in the LADA and type 2 diabetes patients. Median HbA1c was significantly higher (10.8% vs. 7.38%, p = 0.002) and fasting C-peptide was lower (0.75 ng/mL vs. 2.82 ng/mL, p = 0.009) in patients with LADA compared to in those with type 2 diabetes. Among the 5 patients with LADA, 4 were positive for antithyroid peroxidase antibodies. The median disease duration was relatively shorter among patients with LADA (4 years vs. 7 years, p = 0.105). Conclusion We observed a LADA frequency of 1.5% among Turkish patients followed for type 2 diabetes. The presence of obesity and metabolic syndrome did not exclude LADA, and patients with LADA had worse glycemic control than patients with type 2 diabetes did.


Subject(s)
Humans , Male , Female , Infant , Adult , Diabetes Mellitus, Type 1/epidemiology , Diabetes Mellitus, Type 2/epidemiology , Latent Autoimmune Diabetes in Adults/epidemiology , Autoantibodies , Turkey/epidemiology , C-Peptide , Glutamate Decarboxylase , Middle Aged
12.
Acta pediátr. hondu ; 11(2): 1176-1180, oct. 2020-mar. 2021. tab, graf.
Article in Spanish | LILACS | ID: biblio-1283059

ABSTRACT

Antecedentes: Diabetes Mellitus (DM) se consi- dera una enfermedad metabólica con hiperglu- cemia de forma crónica, causada por un déficit parcial o total en la secreción o acción de la in- sulina. El 70-90% de DM1 tienen base autoin- mune. Objetivo: Describir las características clí- nico- epidemiológicas de Diabetes Mellitus I en Pediatría del Hospital Mario Catarino Rivas, San Pedro Sula, Cortés, en el período comprendido entre junio de 2017 - junio de 2019. Pacientes y métodos: Estudio cuantitativo, descriptivo, observacional, realizado en pacientes menores de 18 años que reunieron criterios de inclusión. Los datos se recolectaron mediante encuesta. Re- sultados: El grupo de edad más frecuente fue el escolar de 6-12 años en 49%. Mas frecuente en mujeres en 51%, 29% de los pacientes estudiados presentaron sedentarismo, 17% dislipidemias y sobrepeso, diagnosticadas en el debut de la enfer- medad. Los síntomas más frecuentes fueron po- lifagia en 44%, poliuria en 21%. Conclusiones: Las características socio-demográficas del grupo poblacional estudiado fueron las siguientes, el sexo más afectado fue el femenino y el grupo de edad más frecuente los escolares que se encuen- tran cursando la primaria, la mayoría de los pa- cientes estudiados no presentaban enfermedades asociadas, mientras que solo unos pocos presen- taban sobrepeso y dislipidemias asociado a Dia- betes Mellitus tipo I, se observó un predominio del debut sintomático asociado con la triada de polifagia, polidipsia y poliuria, además visión borrosa y pérdida de peso...(AU)


Subject(s)
Humans , Male , Female , Child , Diabetes Mellitus, Type 1/epidemiology , Insulin/deficiency , Dyslipidemias , Pediatric Obesity/complications
14.
Article in English, Portuguese | LILACS, SES-SP | ID: biblio-1136734

ABSTRACT

ABSTRACT Objective: To analyze the variables associated with the presence of diabetic ketoacidosis in type 1 diabetes mellitus (T1DM) diagnosis and its impact on the progression of the disease. Methods: We reviewed the records of 274 children and adolescents under 15 years, followed in a Pediatric Endocrinology clinic of a university hospital in Curitiba-PR. They had their first appointment between January 2005 and April 2015. Results: Most patients received their T1DM diagnosis during a diabetic ketoacidosis episode. The associated factors were: lower age and greater number of visits to a physician's office prior to diagnosis; diabetic ketoacidosis was less frequent in patients who had siblings with T1DM and those diagnosed at the first appointment. Nausea and vomiting, abdominal pain, tachydyspnea, and altered level of consciousness were more common in the diabetic ketoacidosis group. There was no association with socioeconomic status, duration of symptoms before diagnosis, and length of the honeymoon period. Conclusions: Prospective studies are necessary to better define the impact of these factors on diagnosis and disease control. Campaigns to raise awareness among health professionals and the general population are essential to promote early diagnosis and proper treatment of diabetes mellitus in children and adolescents.


RESUMO Objetivo: Avaliar as variáveis associadas ao diagnóstico de diabetes melito tipo 1 (DM1) na vigência de cetoacidose diabética e seu impacto na evolução da doença. Métodos: Foram avaliadas 274 crianças e adolescentes com idade até 15 anos acompanhados em um ambulatório de endocrinologia pediátrica de um hospital universitário de Curitiba, Paraná, cuja primeira consulta ocorreu entre janeiro de 2005 e abril de 2015. Resultados: A maioria dos pacientes teve diagnóstico de DM1 na vigência de cetoacidose diabética. Os fatores associados foram: menor idade e maior número de consultas prévias ao diagnóstico; a cetoacidose diabética foi menos frequente quando havia um irmão com DM1 e quando o diagnóstico foi feito na primeira consulta médica. Náuseas ou vômitos, dor abdominal, taquidispneia e alteração do nível de consciência foram mais frequentes no grupo com cetoacidose diabética ao diagnóstico. Não se observou associação com nível socioeconômico, tempo de sintomas antes do diagnóstico e duração do período de lua de mel. Conclusões: São necessários estudos prospectivos para definir melhor o impacto desses fatores no diagnóstico e no controle da doença. Campanhas de conscientização dos profissionais de saúde e da população são necessárias para que haja diagnóstico precoce e tratamento adequado do diabetes melito em crianças e adolescentes.


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Diabetic Ketoacidosis/etiology , Diabetic Ketoacidosis/epidemiology , Diabetes Mellitus, Type 1/complications , Diabetes Mellitus, Type 1/epidemiology , Brazil/epidemiology , Prevalence , Cross-Sectional Studies , Risk Factors , Diabetic Ketoacidosis/pathology , Diabetic Ketoacidosis/therapy , Disease Progression , Diabetes Mellitus, Type 1/diagnosis , Diabetes Mellitus, Type 1/therapy , Diagnosis, Differential , Ambulatory Care/statistics & numerical data , Insulin/therapeutic use
15.
Rev. bras. enferm ; 73(6): e20190473, 2020. tab
Article in English | LILACS, BDENF | ID: biblio-1125917

ABSTRACT

ABSTRACT Objective: To evaluate the prevalence of altered touch perception in the feet of individuals with diabetes mellitus and the associated risk factors. Method: Cross-sectional study with 224 individuals with diabetes mellitus conducted in an endocrinology clinic at a public hospital in Campina Grande, Paraíba. The evaluation used touch sensitivity and perception, and a descriptive and multivariate analysis with Poisson regression was performed. Results: We found the prevalence of altered touch perception to be 53.1%. The risk factors that had a significant and joint impact on its occurrence were: female gender; previous ulcer; diabetes mellitus type 2; burning sensation, cracks, fissures, calluses, and Charcot foot. Conclusions: This study found a high prevalence of altered perception of touch, and this should support the planning of actions aimed at preventing the problem. The study showed the relevance of the phenomenon as a nursing diagnosis that could be included in NANDA-International.


RESUMEN Objetivo: Evaluar la prevalencia de la percepción alterada del tacto en los pies de individuos con diabetes mellitus y los factores de riesgo asociados. Método: Estudio transversal con 224 individuos con diabetes mellitus conducido en ambulatorio de endocrinología del hospital público de Campina Grande, Paraíba. Testes de sensibilidad y percepción del tacto han sido empleados en la evaluación; y ha sido realizado análisis descriptivo y multivariado con regresión de Poisson. Resultados: Ha sido encontrado prevalencia de la percepción alterada del tacto de 53,1%. Los factores de riesgo que tuvieron impacto de forma significativa y conjunta en su ocurrencia han sido: sexo femenino; úlcera previa; diabetes mellitus tipo 2; irritación, rajaduras, fisuras, callosidades y pies de Charcot. Conclusiones: Alta prevalencia de la percepción alterada del tacto ha sido encontrada, y esta debe subsidiar el planeamiento de acciones vueltas para la prevención del problema. El estudio evidenció la relevancia del fenómeno en cuanto un diagnóstico de enfermaría pasible de inclusión en la NANDA International.


RESUMO Objetivo: Avaliar a prevalência da percepção do tato alterada nos pés de indivíduos com diabetes mellitus e os fatores de risco associados. Método: Estudo transversal com 224 indivíduos com diabetes mellitus conduzido em ambulatório de endocrinologia de hospital público de Campina Grande, Paraíba. Testes de sensibilidade e percepção do tato foram empregados na avaliação; e foi realizada análise descritiva e multivariada com regressão de Poisson. Resultados: Encontrou-se prevalência da percepção do tato alterada de 53,1%. Os fatores de risco que tiveram impacto de forma significativa e conjunta na sua ocorrência foram: sexo feminino; úlcera prévia; diabetes mellitus tipo 2; queimação, rachaduras, fissuras, calosidades e pés de Charcot. Conclusões: Alta prevalência da percepção do tato alterada foi encontrada, e esta deve subsidiar o planejamento de ações voltadas para a prevenção do problema. O estudo evidenciou a relevância do fenômeno enquanto um diagnóstico de enfermagem passível de inclusão na NANDA-International.


Subject(s)
Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Sensation Disorders/epidemiology , Diabetes Mellitus, Type 1/complications , Diabetes Mellitus, Type 2/complications , Diabetic Neuropathies/epidemiology , Touch Perception , Peripheral Nerves/physiopathology , Prevalence , Cross-Sectional Studies , Risk Factors , Sex Distribution , Diabetes Mellitus, Type 1/epidemiology , Diabetes Mellitus, Type 2/epidemiology
16.
Article in English | LILACS | ID: biblio-1092125

ABSTRACT

ABSTRACT Objective: To assess the frequency of the hypertriglyceridemic waist phenotype and its associated factors in children and adolescents with type 1 diabetes mellitus. Methods: This is an observational analytical study with individuals with type 1 diabetes mellitus, aged 5 to 18 years, of both genders, followed in a university hospital in the Brazilian Northeast. Weight, height, and waist circumference were measured, and the lipid profile and glycated hemoglobin were analyzed. The hypertriglyceridemic waist phenotype was defined by the simultaneous presence of increased waist circumference (≥90th percentile for age and gender) and elevated serum triglyceride levels (≥75 mg/dL for children and ≥90 mg/dL for adolescents). We also investigated the family history of cardiovascular diseases and diabetes, as well as sociodemographic and behavioral variables. In the statistical inference tests, the proportions were compared by Pearson's chi-square test ­and/­or Fisher's exact test, being significant p<0.05. Results: A total of 102 patients were evaluated, most of them females (54.9%) and adolescents (66.7%). The frequency of hypertriglyceridemic waist was 23.5%, which was associated with females (p=0.043), overweight (p=0.023), hypercholesterolemia (p=0.002), high LDL (p=0.001), and borderline VLDL (<0.001). Conclusions: The frequency of the hypertriglyceridemic waist phenotype was associated with females, atherogenic lipid profile, and overweight, indicating the importance of the nutritional monitoring of this population, aiming at reducing future cardiovascular diseases.


RESUMO Objetivo: Avaliar a frequência do fenótipo cintura hipertrigliceridêmica e analisar seus fatores associados em crianças e adolescentes portadores de diabetes melito tipo 1. Métodos: Trata-se de um estudo observacional analítico com indivíduos com diabetes melito tipo 1, de cinco a 18 anos de idade, de ambos os sexos, acompanhados em um hospital universitário do Nordeste brasileiro. Foram realizadas medidas de peso, altura e circunferência da cintura, além da análise do perfil lipídico e da hemoglobina glicada. O fenótipo cintura hipertrigliceridêmica foi definido pela presença simultânea da circunferência da cintura aumentada (≥percentil 90 por idade e sexo) e dos níveis séricos de triglicerídeos elevados (≥75 mg/dL para crianças e ≥90 mg/dL para adolescentes). Investigaram-se, ainda, os antecedentes familiares para doenças cardiovasculares e diabetes, e também variáveis sociodemográficas e comportamentais. Nos testes de inferência estatística, as proporções foram comparadas pelo teste do qui-quadrado de Pearson e/ou exato de Fisher, sendo significante p<0,05. Resultados: Foram avaliados 102 pacientes, com predomínio do sexo feminino (54,9%) e de adolescentes (66,7%). A frequência de cintura hipertrigliceridêmica foi de 23,5%; a qual apresentou associação com o sexo feminino (p=0,043), excesso de peso (p=0,023), hipercolesterolemia (p=0,002), LDL elevado (p=0,001) e VLDL em valores limítrofes (<0,001). Conclusões: A frequência do fenótipo cintura hipertrigliceridêmica foi associada ao sexo feminino, ao perfil lipídico aterogênico e ao excesso ponderal, evidenciando a importância do acompanhamento nutricional dessa população, visando à redução de agravos cardiovasculares futuros.


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Diabetes Mellitus, Type 1/epidemiology , Hypertriglyceridemic Waist/epidemiology , Cardiometabolic Risk Factors , Brazil/epidemiology , Exercise , Sex Factors , Diabetes Mellitus, Type 1/blood , Overweight/epidemiology , Hypertriglyceridemic Waist/diagnosis , Hypertriglyceridemic Waist/blood , Hypercholesterolemia/epidemiology
17.
Rev. chil. endocrinol. diabetes ; 12(3): 170-174, jul. 2019. tab
Article in Spanish | LILACS | ID: biblio-1006512

ABSTRACT

Objetivo: El objetivo del estudio fue describir las características y evolución de los pacientes que acudieron a las urgencias de nuestro hospital y fueron diagnosticados de cetoacidosis diabética (CAD) utilizando la novedosa herramienta de Big Data Savana. Método: Estudio retrospectivo descriptivo de los pacientes atendidos en urgencias del Hospital Universitario Infanta Leonor durante los años 2011 al 2016 con diagnóstico de CAD. La búsqueda se realizó con Savana Manager. Resultados: Se diagnosticaron 95 episodios de CAD en 68 pacientes. Del total de episodios de CAD, 57 fueron en diabéticos tipo 1 (de ellos 4 LADA), 25 en diabéticos tipo 2, 2 en diabéticos postpancreatectomía y 12 fueron debuts diabéticos. Del total, 61 (64,2%) requirieron ingreso hospitalario, de ellos 23 (24,2%) ingresaron en UCI. La media de HbA1c fue de 10,6 ± 2,1%. Tres pacientes requirieron reingreso tras el alta. La mortalidad fue muy baja con el fallecimiento en 1 paciente diagnosticado simultáneamente de cáncer pulmonar. Los desencadenantes de la CAD fueron: 35 casos (36,8%) falta de adherencia al tratamiento, 31 (32,6%) infecciones, 12 (12,6%) debuts, 8 (8,4%) varias causas y 9 (9,5%) no se pudo determinar la causa. Se clasificaron como CAD de gravedad leve un 28%, un 38% como de gravedad moderada y 34% como graves. La duración del ingreso no se relacionó con la severidad de la cetoacidosis. Conclusiones: La CAD es una complicación grave que afecta tanto a diabéticos tipo 1 como a tipo 2 con elevado porcentaje de ingresos hospitalarios y en UCI, aunque con baja mortalidad en nuestro medio. La duración de los ingresos no se relaciona con la severidad del cuadro.


Objective: the study was designed to describe the clinical features and evolution of the diabetic patients attended in our hospital emergency department with diabetic ketoacidosis (DKA) using the novel Big Data tool Savana. Method: Retrospective descriptive study of the patients attended in the emergency room of the Infanta Leonor University Hospital during the years 2011 to 2016 with diagnosis of CAD. The search was made with Savana. Results: 95 episodes of DKA were diagnosed in 68 patients. Of the total episodes of CAD 57 were in type 1 diabetics (of which 4 were LADA), 25 in type 2 diabetics, 2 in diabetics postpancreatectomy and 12 were new onset of diabetes. Of the total, 61 (64.2%) required hospital admission, of which 23 (24.2%) were admitted to the intensive care unit (ICU). The mean HbA1c was 10.6 ± 2.1%. Three patients required readmission after discharge. Mortality was very low with death in 1 patient simultaneously diagnosed of lung cancer. The triggers of CAD were: 35 cases (36,8%) lack of adherence to treatment, 31 (32.6%) infections, 12 (12.6%) new onset, 8 (8,4%) various causes and 9 (9.5%) the cause could not be determined. They were classified as mild DKA 28%, 38% as moderate and 34% as severe. The duration of admission was not related to the severity of ketoacidosis. Conclusions: DKA is a serious complication that affects both, type 1 and type 2 diabetics patients, with a high percentage of hospital and ICU admissions, although with low mortality in our environment. The lenght of the stay in hospital is not related to the severity of the DKA.


Subject(s)
Humans , Male , Female , Child , Adolescent , Adult , Middle Aged , Diabetic Ketoacidosis/epidemiology , Diabetes Complications/epidemiology , Spain/epidemiology , Medical Informatics , Epidemiology, Descriptive , Retrospective Studies , Diabetic Ketoacidosis/etiology , Diabetes Mellitus, Type 1/complications , Diabetes Mellitus, Type 1/epidemiology , Diabetes Mellitus, Type 2/complications , Diabetes Mellitus, Type 2/epidemiology , Emergency Service, Hospital , Hyperglycemia/complications , Hyperglycemia/epidemiology
18.
Colomb. med ; 49(4): 273-279, Oct.-Dec. 2018. tab, graf
Article in English | LILACS | ID: biblio-984308

ABSTRACT

Abstract Introduction: Although the association between diabetes mellitus type 1 (T1DM) and celiac disease (CD) is well established; there are only a few studies that focus on South American children, haplotypes and their possible associations. Objective: To determine the prevalence of CD markers in a group of children with T1DM and to analyze the associated clinical, immunological and genetic manifestations. Methods: A prevalence study focusing on children with T1DM who were assessed based on variables including sociodemographics, anthropometric information, disease characteristics, laboratory results and family medical history. In partitipants a positive tTG2 (Ig A anti-transglutaminase), a duodenal biopsy and genotype were performed. The proportion of children with T1DM and CD was estimated (CI 95%). Determinations of central tendency, univariate and bivariate analysis, were also performed; p <0.05 was considered significant. Results: Thirteen (8.4%) of the 155 children (53.6% girls, 11.0 ±3.6 years, 2-18 years) with T1DM were tTG2 positive, four had CD (2.6%), seven had potential CD (4.5%) and nine were HLA DQ2/DQ8 positive (5.8%). Children with T1DM and CD had their last ketoacidotic episode (21.5 ±30.4 months versus 69.5 ±38.8 months, p= 0.0260) earlier than children with T1DM and potential CD. There were no differences with anthropometry or with the laboratory results regarding glycemic control. Conclusions: The prevalence of CD in these children with T1DM is higher than that reported in other South American countries. The prevalence of CD was found to be associated with the time of presentation of T1DM and its main allele, the DQ2/DQ8. These findings are different from what has been described in other places around the world.


Resumen Introducción: A pesar que la asociación entre diabetes mellitus tipo 1 (DMT1) y enfermedad celíaca (EC) está bien establecida; hay pocos estudios en niños suramericanos sobre haplotipos y sus posibles asociaciones. Objetivo: Determinar la prevalencia de marcadores de EC en un grupo de niños con DMT1, analizando las manifestaciones clínicas, inmunológicas y genéticas. Métodos: Estudio de prevalencia en niños con DMT1 a quienes se les tomaron variables sociodemográficas, antropométricas, de la enfermedad, paraclínicas y familiares metabólicas. A los niños con IgA anti-transglutaminasa (tTG2) positivos, se les realizó biopsia duodenal y genotipo. Se estimó la proporción de niños con DMT1 y EC y su IC 95%; medidas de tendencia central, análisis univariado y bivariado, siendo significativa una p <0.05. Resultados: Trece (8.4%) de los 155 niños (53.6% niñas, de 11.0 ±3.6 años, 2-18 años) con DMT1 fueron tTG2 positivos, cuatro presentaron EC (2.6%), siete EC potencial (4.5%) y nueve HLA DQ2/DQ8 (5.8%). Los niños con DMT1 y EC presentaron más pronto su último episodio cetoacidótico (21.5 ±30.4 meses versus 69.5 ±38.8 meses, p= 0.0260) que los niños con DMT1 y EC potencial. No hubo diferencias con la antropometría ni con los paraclínicos del control glicémico. Conclusiones: La prevalencia de EC en estos niños con DMT1 es superior a la de otros países suramericanos; estando asociada al tiempo de presentación de la DMT1 y su principal alelo el DQ2/DQ8, hallazgos diferentes a lo descrito a nivel mundial.


Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Male , HLA-DQ Antigens/genetics , Celiac Disease/epidemiology , Diabetes Mellitus, Type 1/complications , Time Factors , Biomarkers/metabolism , Celiac Disease/diagnosis , Celiac Disease/genetics , Prevalence , Diabetic Ketoacidosis/epidemiology , Colombia/epidemiology , Diabetes Mellitus, Type 1/genetics , Diabetes Mellitus, Type 1/epidemiology , Alleles , Genotype
19.
Rev. cuba. salud pública ; 44(3)jul.-set. 2018.
Article in Spanish | LILACS, CUMED | ID: biblio-1042983

ABSTRACT

La diabetes mellitus es un padecimiento conocido desde hace siglos; sin embargo, a fin del milenio el conocimiento de su etiología, historia natural y epidemiología es aún incompleto. Los estudios epidemiológicos sobre esta enfermedad y específicamente, de su tipo1 han tenido un gran impacto en la comunidad científica internacional(AU)


Diabetes mellitus is a condition known for centuries; however, at the end of the millennium the knowledge of its etiology, natural history and epidemiology is still incomplete. Epidemiological studies on this disease and specifically on type 1 have had a major impact in the international scientific community(AU)


Subject(s)
Humans , Male , Female , Diabetes Mellitus, Type 1/etiology , Diabetes Mellitus, Type 1/epidemiology
20.
Biomédica (Bogotá) ; 38(3): 329-337, jul.-set. 2018. tab, graf
Article in Spanish | LILACS | ID: biblio-973986

ABSTRACT

Resumen Introducción. La región del antígeno leucocitario humano (Human Leukocyte Antigen, HLA) se ha asociado claramente con enfermedades autoinmunitarias, como la diabetes mellitus de tipo 1. Los polimorfismos representativos de un solo nucleótido (tag Single Nucleotide Polymorphism, tag SNP) constituyen una forma alternativa de evaluar los alelos clásicos del HLA. En la población europea se ha reportado un grupo de tag SNP para múltiples alelos clásicos relacionados con la predisposición o la resistencia frente a dicha enfermedad. Objetivo. Validar la metodología basada en los tag SNP enfocada en la inferencia de alelos HLA clásicos, y evaluar su asociación con la diabetes mellitus de tipo 1 en una muestra de familias antioqueñas. Materiales y métodos. Se estudió una muestra de 200 familias antioqueñas con uno a dos hijos afectados por diabetes mellitus de tipo 1. Se genotipificaron 13 SNP mediante el ARMS-PCR (Amplification Refractory Mutation System-Polymerase Chain Reaction) con cuatro iniciadores, o mediante la PCR-RFLP (PCR-Restriction Fragment Length Polymorphism). Además, se evaluó la validez de los tag SNP de 1.000 genomas reportados en europeos en una muestra de 60 individuos de la población colombiana de Medellín. Se hicieron las pruebas de desequilibrio de la transmisión, de desequilibrio de ligamiento y de equilibrio de Hardy-Weinberg. Resultados. En la población de estudio no se encontró suficiente desequilibrio de ligamiento entre los SNP y los alelos clásicos evaluados, por lo cual no fue posible inferir los alelos clásicos del HLA para el conjunto de familias con diabetes mellitus de tipo 1. El estudio de asociación evidenció que esta región aporta factores tanto de riesgo como de protección para el desarrollo de la enfermedad. Los tag SNP apropiados para la muestra de estudio se determinaron usando los SNP ubicados en la región HLA en la base de datos del 1000 Genomes Project en la mencionada población. Conclusiones. Los patrones de desequilibrio de ligamiento en la población estudiada fueron diferentes a los reportados para la población europea. A pesar de esto, se encontró evidencia clara sobre el papel de la región HLA en el riesgo de padecer diabetes mellitus de tipo 1 en la población de estudio.


abstract Introduction: The HLA region strongly associates with autoimmune diseases, such as type 1 diabetes. An alternative way to test classical HLA alleles is by using tag SNP. A set of tag SNP for several classical HLA alleles has been reported as associated with susceptibility or resistance to this disease in Europeans. Objective: We aimed at validating the methodology based on tag SNP focused on the inference of classical HLA alleles, and at evaluating their association with type 1 diabetes mellitus in a sample of 200 families from Antioquia. Materials and methods: We studied a sample of 200 families from Antioquia. Each family had one or two children with T1D. We genotyped 13 SNPs using tetra-primer ARMS-PCR or PCRRFLP. In addition, we tested the validity of the tag SNP reported for Europeans in 60 individuals from a population of Colombians living in Medellín (CLM) from the 1000 Genomes Project database. Statistical analyses included the Hardy-Weinberg equilibrium, the transmission disequilibrium and the linkage disequilibrium tests. Results: The linkage disequilibrium was low in reported tag SNP and classical HLA alleles in this CLM population. Association analyses revealed both risk and protection factors to develop type 1 diabetes mellitus. Appropriate tag SNPs for the CLM population were determined by using the genotype information available in the 1000 Genome Project database. Conclusions: Although linkage disequilibrium patterns in this CLM population were different from those reported in Europeans, we did find strong evidence of the role of HLA in the development of type 1 diabetes mellitus in the study population.


Subject(s)
Adult , Female , Humans , Male , Genes, MHC Class I , Genes, MHC Class II , Polymorphism, Single Nucleotide , Diabetes Mellitus, Type 1/genetics , HLA Antigens/genetics , Computer Simulation , Linkage Disequilibrium , Colombia/epidemiology , Genetic Predisposition to Disease , Diabetes Mellitus, Type 1/epidemiology , Alleles , Epistasis, Genetic , Protein Tyrosine Phosphatase, Non-Receptor Type 22/genetics , CTLA-4 Antigen/genetics , Interferon-Induced Helicase, IFIH1/genetics , Genotype , Models, Genetic
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