Hyperglycemia in pediatric age: could it be maturity onset diabetes of the young? Case reports and review of the literature

Maturity Onset Diabetes of the Young (MODY) includes a clinically and genetically heterogeneous group of diabetes subtypes with MODY-2 being the second most prevalent form. We report 2 cases of MODY-2 identified during the investigation of asymptomatic hyperglycemia. A 12-year-old girl with a familiar history of diabetes (mother, maternal aunt, and maternal grandfather) was referred due to hypercholesterolemia, abnormal fasting glucose (114 mg/dL), and increased levels of glycated haemoglobin (HbA(1c)) (6%) presenting with negative β-cell antibodies. A glucokinase (GCK) heterozygous missense mutation c.364C>T (p.Leu122Phe) in exon 4 was identified in the index patient and in the 3 family members. An obese 9-year-old boy was investigated for elevated fasting glycemic levels (99–126 mg/dL), HbA(1c) rise (6.6%–7.6%), and negative β-cell antibodies. The patient's father, paternal aunt, and paternal grandfather had a history of diabetes during their childhood. A GCK heterozygous missense mutation c.698G>A (p.Cys233Tyr) in exon 7 was identified in the index patient. This variant was only described in another family strongly affected by both MODY and classic autoimmune mediated diabetes, contrary to our case. MODY-2 should be suspected in the presence of early onset of persistent mild fasting hyperglycemia and negative β-cell antibodies associated with a positive family history of diabetes. These cases illustrate the challenging aspects of MODY diagnosis due to possible phenotypic overlap with other types of diabetes. The diagnosis requires a high level of suspicion and GCK genetic screening should be performed in the presence of compatible features. An early diagnosis allows for appropriate management, genetic counselling, and the identification of affected family members.

Drug use and associated demographic factors of freshman students in a Chilean University / Consumo de drogas y factores demográficos asociados en estudiantes de primer año de una universidad Chilena

OBJECTIVE: to characterize the student population first enters the Universidad Austral de Chile in terms of drug use and associated factors. METHODS: association study of drug use and demographic variables of 845 students. The self-administered questionnaire contained two main instruments, the detection pattern of alcohol and other drugs (DEP-ADO) and the AUDIT. Partnerships were established using parametricand nonparametric tests. RESULTS: increased consumption of alcohol and marijuana was associated with male gender. The onset of drug and alcohol consumption did not differ significantly according to sex. The frequency of alcohol consumption on faculties has significant differences in men and women. The variables "where you live" and "who lives" was significantly related to consumption of amphetamine and marijuana. CONCLUSION: the main problem of this population is the consumption of alcohol, snuff and Marijuana.

OBJETIVO: Caracterizar a população estudantil que ingressa pela primeira vez na Universidad Austral de Chile, em termos do uso de drogas e fatores demográficos associados. MÉTODOS: Estudo de corte transversal e de associação do uso de drogas e variáveis ​​demográficas de 845 alunos. O questionário autoadministrado continha dois instrumentos principais, o padrão de detecção de álcool e outras drogas. Foram estabelecidas associações por meio de testes paramétricos e não paramétricos. RESULTADOS: O aumento do consumo de álcool e de maconha foi associado ao gênero masculino. O início do consumo de drogas e álcool não diferiu significativamente em função do gênero. A frequência de consumo de álcool teve diferenças significativas por faculdade entre homens e mulheres. As variáveis "lugar onde vive" e "com quem vive", foram significativamente relacionadas com o consumo de anfetaminas e maconha. CONCLUSÃO: O consumo de tabaco, álcool e maconha foi o principal identificado nessa população.

OBJETIVO: Caracterizar la población estudiantil que ingresa por primera vez en la Universidad Austral de Chile, en términos del uso de drogas y factores demográficos asociados. MÉTODOS: Estudio de corte transversal y de asociación del uso de drogas y variables ​​demográficas de 845 alumnos. El cuestionario autoadministrado contenía dos instrumentos principales, el patrón de detección de alcohol y otras drogas. Se establecieron asociaciones por medio de tests paramétricos y no paramétricos. RESULTADOS: El aumento del consumo de alcohol y de marihuana fue asociado al género masculino. El inicio del consumo de drogas y alcohol no difirió significativamente en función del género. La frecuencia de consumo de alcohol tuvo diferencias significativas por facultad entre hombres y mujeres. Las variables "lugar donde vive" y "con quién vive", fueron significativamente relacionadas con el consumo de anfetaminas y marihuana. CONCLUSIÓN: El consumo de tabaco, alcohol y marihuana fue el principal identificado en esa población.