Current Issue : January-March Volume : 2022 Issue Number : 1 Articles : 5 Articles
Background: Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic inherited disease caused by mutations of the autoimmune regulator gene (AIRE). The three major components of this syndrome are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical insufficiency. Case presentation: We report a 20-year-old male who was clinically diagnosed with APS-1 at the age of 15. He was admitted to our department this time for suffering from polyuria and polydipsia for 6 months and was finally diagnosed with diabetes insipidus. Whole-exome sequencing (WES) revealed a novel compound heterozygous mutation of the AIRE gene —the c.239 T > G (p.Val80Gly) variant on one allele and the copy number variant (CNV) of 21q22.3(chr21:45,670,150–45,706,528)*1 on the other. Conclusions: This case suggests that diabetes insipidus is a rare component of APS-1 and expands the variety of mutations on AIRE gene....
Background: Despite the increased fracture risk, bone mineral density (BMD) is variable in type 1 (T1D) and type 2 (T2D) diabetes mellitus. We aimed at comparing independent BMD predictors in T1D, T2D and control subjects, respectively. Methods: Cross-sectional case-control study enrolling 30 T1D, 39 T2D and 69 age, sex and body mass index (BMI) – matched controls that underwent clinical examination, dual-energy X-ray absorptiometry (BMD at the lumbar spine and femoral neck) and serum determination of HbA1c and parameters of calcium and phosphate metabolism. Results: T2D patients had similar BMD compared to T1D individuals (after adjusting for age, BMI and disease duration) and to matched controls, respectively. In multiple regression analysis, diabetes duration – but not HbA1cnegatively predicted femoral neck BMD in T1D (β= -0.39, p = 0.014), while BMI was a positive predictor for lumbar spine (β = 0.46, p = 0.006) and femoral neck BMD (β = 0.44, p = 0.007) in T2D, besides gender influence. Age negatively predicted BMD in controls, but not in patients with diabetes. Conclusions: Long-standing diabetes and female gender particularly increase the risk for low bone mass in T1D. An increased body weight partially hinders BMD loss in T2D. The impact of age appears to be surpassed by that of other bone regulating factors in both T1D and T2D patients....
Background: Atherosclerotic cardiovascular disease (ASCVD) is a major cause of death worldwide. A large number of deaths due to ASCVD occurs among people with diabetes mellitus (DM). One of the important modifiable risk factors associated with ASCVD is dyslipidaemia and its prevalence is not known in central South Africa (SA). This study aimed to determine the pattern and prevalence of dyslipidaemia among type 2 diabetes mellitus (T2DM) patients on lipid-lowering therapy. Methods: This descriptive, retrospective study of patients’ records was conducted at Universitas Academic Hospital in Bloemfontein, SA. The study population included 143 consecutive T2DM patients of any age that attended the Diabetes Clinic from 1 January to 31 March 2019. The patients had to be on lipid-lowering therapy for a minimum duration of 3 months. Data were sourced from the clinic files and included the patient’s lipid profile, anthropometric and demographic data. Dyslipidaemia was defined using the 2018 SA dyslipidaemia guidelines. Results: The median age of the participants was 63 years (interquartile range [IQR] 52–71 years). The majority of the participants were female (n = 92; 64.3 %). The median duration since the DM diagnosis was 18 years (IQR 13–23 years). The prevalence of dyslipidaemia was 86.7 % (n = 124). Combined dyslipidaemia, namely either triglycerides (TG) + low-density lipoprotein cholesterol (LDL), high-density lipoprotein cholesterol (HDL) + TG or HDL + LDL, was the most common pattern (n = 51; 42.5 %) largely due to raised TG + LDL contributing 37.2 % (n = 19) to this pattern. The second and third most common patterns were isolated (either LDL, HDL or TG) and mixed dyslipidaemia (TG + HDL + LDL) at 40.8 % (n = 49) and 16.7 % (n = 20), respectively. The most frequent lipid abnormality (n = 84; 70.0 %) was LDL of ≥ 1.8 mmol/L. Of the 140 participants on statin therapy, only 5 % were on high-intensity therapy. Conclusions: A high prevalence of dyslipidaemia among DM patients was observed, despite the use of lipidlowering therapy in this small observational study. Our findings highlight the need to better educate healthcare providers regarding the intensification of lipid-lowering therapy, along with improved strategies to address poor glycaemic control and other modifiable lifestyle factors....
Background: Despite strong evidence demonstrating the role of estrogen as a protective factor for kidney function in women, limited data are available regarding the influence of endogenous estrogen exposure (EEE) on chronic kidney disease (CKD). The present study aimed to assess the incidence of CKD in women with various levels of EEE. Methods: In a prospective population-based study over a 15-year follow-up, a total of 3043 eligible women aged 30–70 years, participating in Tehran-Lipid and Glucose-Study were recruited and divided into two groups (EEE < 11 and EEE ≥ 11 years). EEE calculated based on age at menarche, age at menopause, number and duration of pregnancies, lactation, and duration of oral contraceptive use after excluding the progesterone dominant phase of the menstrual cycle. Cox’s proportional hazards model was applied to estimate the hazard ratio of CKD between the study groups, after adjusting for confounders. Results: The total cumulative incidence rate of CKD was 50.1 per 1000 person years; 95% CI: 47.7–52.6); this was 53.9 (95%CI, 50.2–57.8) and 47.1 (95%CI, 44.0–50.4) per 1000 person years in women with EEE < 11 and EEE ≥ 11 years, respectively. The model adjusted for age, BMI, smoking, hypertension, and diabetes showed that the hazard ratio (HR) of incidence CKD in women with EEE < 11 compare to those with EEE ≥ 11 years in the subgroup of women aged< 45 years was 2.66(95% CI, 2.2, 3.2), whereas, in the subgroup aged ≥45 years, it was 1.22 (95% CI, 1.04, 1.4). Conclusion: This study shows a higher HR of CKD incidence in women with low EEE levels in their later life. Screening of these women for CKD may be recommended....
Introduction: The exhaustion of healthcare resources due to the rising prevalence in Saudi Arabia mandates the search for each method that can help in better control of diabetes. Methods: The gathered task force gathered to develop an explicit, evidence-based consensus for the use of time-in-range targets as guidance for better glycemic control while using continuous glucose monitoring (CGM). This article has the recommendations of this expert panel. Results: HbA1c and self-monitoring blood glucose (SMBG) are not enough to detect blood glucose (BG) fluctuations on a daily basis. The incorporation of technology like FreeStyle Libre with its applications like Libre View is now used in many institutes in Saudi Arabia. This system is comprehensive and has all the standardized metrics needed. However, training and support are always needed. Barriers and challenges include the awareness & experience of the technology, the time barrier, the patients’ barriers, the technical barriers, and of course, the availability barrier. All the barriers and challenges should be dealt with by designing new training programs. Conclusion: The expert panel recommended using CGMs technology in people with type 1 diabetes (T1DM) children and adults, type 2 diabetes (T2DM) on multiple insulin injections, gestational diabetes (GDM) who need further glycemic control, and those at high risk for hypoglycemia. In addition, we recommend using them for a short period for those who require intensive BG control or during acute illness or stress. In addition, Ambulatory Glucose Profile (AGP) could be used as an educational tool for any individuals with DM to study the impact of certain elements of lifestyle modifications on their immediate BG level....
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