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Context: Adolescents and young women (AYA) with type 1 diabetes (T1D) may require hormonal contraception for an extended period. However, it is unclear what effect hormonal contraception has on telomere length, a marker of the risk for complications. Objective: To investigate the relative telomere length (RTL) in AYA with T1D (AYA-T1D) and healthy young women (AYA-C) after 18 months of combined oral contraception use (COC) with ethinyl estradiol/desogestrel, or a subdermal etonogestrel implant (IM). Methods: A nonrandomized prospective study was performed in which 39 AYA-T1D and 40 AYA-C chose the COC or the IM. RTL was measured by monochrome multiplex-quantitative PCR in DNA from peripheral blood mononuclear cells (PBMC). The impact of contraceptives and clinical variables on RTL was assessed using lineal regression analysis. Results: Longer RTL compared to baseline was observed in AYA-T1D (P < .05) and AYA-C (P < .01) after using the IM. However, the total of AYA and the AYA-C group treated with COC decreased RTL after 18 months of treatment compared to baseline (P < .05). The type of contraceptive used was determinant for the changes in RTL compared to baseline in all subjects and controls (P ≤ .006). For AYA-T1D, HbA1c levels were not associated with RTL, but the high-sensitivity C-reactive protein was negatively related with the changes in RTL at 18 months compared to baseline (standardized R2 : 0.230, P = .003). Conclusion: IM was associated with longer RTL in AYA-T1D and AYA-C. In contrast, a shortening of telomere length in PBMC was observed after using COC.
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BACKGROUND AND PURPOSE: Juvenile-onset Huntington disease (JHD) is defined when symptoms initiate before 20 years of age. Mechanisms explaining differences between juvenile and adult onset are not fully understood. Our aim was to analyze the distribution of initial symptoms in a cohort of JHD patients and to explore its relationship with CAG expansion and relative telomere length (RTL). METHODS: A total of 84 JHD patients and 54 neurologically healthy age and sex matched individuals were recruited. CAG length was measured by southern blot or triplet repeat primed polymerase chain reaction. RTL was measured using the Cawthon method. RESULTS: Psychiatric symptoms were most frequent when considering the entire cohort. When divided into onset before or after 10 years, cognitive symptoms were more frequent in the youngest, whilst in the older group psychiatric symptoms prevailed. Motor symptoms were rare in the youngest and epilepsy was observed only in this group as well as a larger CAG expansion. RTL analysis revealed shorter telomeres in JHD patients compared to controls. This difference is not influenced by age, initial symptoms, time of disease or CAG expansion. CONCLUSIONS: To the best of our knowledge this is the largest cohort of JHD patients reported. Psychiatric manifestations deserve special attention when JHD is suspected and epilepsy is especially important in the youngest patients. Initial symptoms seem to be influenced by CAG expansion and therefore age of onset. RTL is significantly reduced in JHD patients which can influence the characteristic neurodegeneration of JHD and contribute to the clinical discrepancy between adult and juvenile forms of Huntington disease.
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Enfermedad de Huntington , Adulto , Humanos , Enfermedad de Huntington/genética , Enfermedad de Huntington/diagnóstico , Repeticiones de Trinucleótidos/genética , Telómero , Edad de InicioRESUMEN
Leukocyte telomere length in the elderly has been positively associated with healthy living and physical activity. Factors that interfere with telomere shortening are similar to those that may be associated with decreasing functional capacity. To investigate the relationship between mean leukocyte telomere length and functional capacity in community-dwelling elderly individuals, this is an observational, cross sectional, multicentric study conducted with elderly Brazilian patients. Sample characterization was performed using a sociodemographic clinical questionnaire. Telomere length was evaluated by quantitative polymerase chain reaction, and functional capacity was evaluated by the Short Physical Performance Battery (SPPB). A total of 113 elderly individuals (age 70 ± 5.4 years; 75 women and 38 men) were enrolled in this study. Unexpectedly, it was found that lower relative telomere length was associated with better physical capacity in the global SPPB score. Although telomere shortening is observed with increasing age, it is not associated with decreased functional capacity. Functionality is broad and multidimensional, involving the connection of biopsychosocial and cultural factors. While functionality may not be considered a marker of functional aging in an elderly cohort, it can still play an important role in longitudinal studies, which attempt to elucidate process theories. Future studies should use different techniques to measure telomere lengths in subpopulations of cells.