Autoimmune polyendocrine syndrome type 1: Clinical manifestations, pathogenetic features, and management approach.

Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive hereditary pathology that develops with endocrine and non-endocrine manifestations in childhood. The classic triad of APS-1 includes chronic candidiasis of the skin and mucous membranes, adrenal insufficiency, and hypoparathyroidism. APS-1 is often accompanied by hypogonadism, type 1 diabetes, autoimmune thyroiditis, vitiligo, alopecia, asplenia, pneumonitis, gastritis, pernicious anemia, and intestinal dysfunction, nephritis, and hepatitis. The prevalence rate is highest in genetically isolated populations (up to 1:6500-1:9000). APS-1 occurs because of mutations in the autoimmune regulator (AIRE) gene, leading to a disrupted mechanism of normal antigen expression, the formation of abnormal clones of immune cells, and autoimmune damage to various organs. Analysis of the AIRE gene is the main diagnostic method for early detection of APS-1 and the choice of methods for its treatment. Timely genetic counseling makes it possible to identify the disease early, prescribe appropriate treatment and prevent serious complications. This paper analyzes scientific information characterizing clinical manifestations of autoimmune polyendocrine syndrome type 1 in association with its pathogenetic features, epidemiology, and current management.

Epidemiology of stroke and transient ischemic attacks in the population of the territories adjacent to the former Semipalatinsk Nuclear Test Site, Kazakhstan.

The issue of radiation exposure as a potential cause of cerebrovascular disease raises many concerns. The aim of the present study was to investigate the epidemiology of stroke and transient ischemic attacks (TIA) along with the associated risk factors among the population of East Kazakhstan exposed to ionising radiation from the former Semipalatinsk Nuclear Test Site (SNTS) in comparison with the unexposed population of the same region. This 5-year retrospective cross-sectional study included the data on 10,970 patients, of whom the majority (62.3%) suffered from ischemic stroke, 11.7% had hemorrhagic stroke and the remaining 26.0% had TIA. At the moment when stroke/TIA happened, exposed patients were younger than the unexposed (mean age 63 years versus 64 years, p < 0.001) and showed higher rates of nearly all associated comorbidities, which commonly were more severe. Besides, exposed patients showed a higher risk of stroke lethality in contrast with the unexposed. The observed features might indicate that people residing in the vicinity of the SNTS are vulnerable to cerebrovascular disease and thus, this study contributes to timely recognition of this public health problem. In addition, a longitudinal study has to be envisaged to clarify whether there is any cause-effect relationship between exposure to radiation from the SNTS and the development of stroke or transient ischemic attacks.

Clinical characteristics and risk factors for disease severity and mortality of COVID-19 patients with diabetes mellitus in Kazakhstan: A nationwide study.

BACKGROUND: Diabetes mellitus (DM) is associated with higher risk of developing infectious disease and COVID-19 is not the exception. There is a need to generate more data on clinical characteristics and risks of COVID19 patients presenting with DM. In this retrospective study we aimed to report on demographic features, clinical data, and outcomes of COVID-19 patients with DM in comparison with age- and sex-matched patients without DM. METHODS: This was a retrospective study that relied on the nationwide data on all COVID-19 patients who were diagnosed from 14 March to 18 April, 2020. Overall, there were 31 cases with DM for which we randomly matched 4 patients without DM by age and sex. RESULTS: COVID-19 patients with associated DM had less beneficial outcomes and more severe disease course both at hospital admission and final diagnosis, as compared with the age and sex-matched non-DM patients. Diabetics were more predisposed to impaired breathing (29.0 % versus 4.9 % in controls), nausea/vomiting (6.5 % versus 0 % in controls) and weakness/lethargy (45.2 % versus 26.0 % in controls). Finally, 48.4 % of diabetics showed the signs of pneumonia on CT scans versus 20.3 % of non-diabetics (p = 0.001), and 32.3 % of DM patients were admitted to intensive care units as compared with just 5.7 % of non-DM patients (p<0.001). CONCLUSION: There is a need to envisage early status monitoring and supportive care in this vulnerable category of patients to enable better prognosis.