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    A new entity in the NARS2 variant: the first reported case of type 1 diabetes mellitus associated with the phenotype
    (Oxford Univ Press, 2022) Cokyaman, Turgay; Cetin, Huriye; Dogan, Durmus; Sılan, Fatma
    NARS2 mutations are known to cause various clinical phenotypes such as nonsyndromic hearing loss, Leigh/Alpers syndrome, refractory epilepsy, developmental delay, intellectual disability and myopathy. We presented the first Turkish variant of NASR2 and added type 1 diabetes mellitus (DM), which was not previously described in the phenotype spectrum of this disease. A 4.5-month-old girl presented with hearing loss, hypotonia, refractory myoclonic epilepsy, severe developmental delay and large subdural hemorrhage. In the first year of the follow-up, type 1 DM developed. A homozygous missense mutation, [c.500 A>G, p.H167R] in the NARS2 gene was detected in the trio-based whole-exome sequencing (WES). In this disease, in addition to multi-organ involvement, type 1 DM may also develop, as in our case. Since it is a mitochondrial disease, the decision to treat with valproic acid should be reconsidered. The long diagnostic process can be shortened with WES.
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    Assessment of Nature Camp on Quality of Life in Children with Type 1 Diabetes: The Çanakkale Experience
    (Çanakkale Onsekiz Mart Üniversitesi, 2024) Dogan, Durmus; Karabulut, Hacer; Saltık, Zeynep Alara
    Objectives: This study assessed the quality of life (QoL) in children with Type 1 Diabetes Mellitus (DM) attending diabetes camps, examining factors influencing their QoL. Methods: Participants were 8-17 year olds with type 1 DM, under the care of Pediatric Endocrinology department, who either attended Diabetes Nature Camps or did not. The Pediatric Quality of Life Inventory (PedsQoL) Diabetes Module 3.0 was used to evaluate QoL, with a focus on diabetes impact on daily life and well-being. Diabetes duration and HbA1c levels pre-and-post camp were retrospectively reviewed. PedsQoL scores were statistically analyzed using Wilcoxon Paired Ranks Test, and comparisons between camp attendees and non-attendees were made using Mann-Whitney U and chi-square tests. Results: Seventy diabetic patients participated. No significant differences were found between participants and non-participants in terms of gender, age, and pre-camp HbA1c levels. In the QoL questionnaire, no differences were noted in diabetes symptoms, treatment, and anxiety subcategories. However, communication scores were significantly higher in camp attendees [91.6 (75-100)] compared to non-attendees [83.33 (50-91.6)], (p = 0.044). Factors like age, gender, diabetes duration, hospitalization history, and camp participation didn't significantly influence the overall QoL score. HbA1c values pre-and-post camp also didn't show notable changes in campers. Conclusion: Diabetes nature camps did not reveal significant changes in the quality of life of children experiencing camping. Larger and longer-term studies are needed to make the effects of the camping process more visible in diabetic campers