DUOX1 Gene Missense Mutation Confers Susceptibility on Type 2 Amiodarone-Induced Thyrotoxicosis.

Possible triggers and genetic markers involved in pathogenesis of amiodarone-induced thyrotoxicosis (AIT) or amiodarone-induced hypothyroidism (AIH) are currently unknown. This study aimed to analyze the association between polymorphisms in the genes involved in thyroid hormones biosynthesis and metabolism. Thirty-nine consecutive patients with confirmed type 2 amiodarone-induced thyrotoxicosis were enrolled; 39 patients on the same therapy for at least 6 months without thyroid pathology were included as a control group. A comparative study was carried out to determine the distribution and genotypes of polymorphic markers of the (Na)-iodide symporter (NIS) genes (rs7250346, C/G substitution), thyroid stimulating hormone receptor (TSHR) (rs1991517, C/G substitution), thyroid peroxidase (TPO) (rs 732609, A/C substitution), DUOX 1-1 (C/T substitution), DUOX 1-2 (G/T substitution), DUOX 1-3 (C/T substitution), glutathione peroxidase 3 (GPX3) (C/T substitution), glutathione peroxidase 4 (GPX4) (C/T substitution). Statistical analysis was performed using Prism (Version 9.0.0 (86)). This study showed that the risk of AIT2 is 3.18 times higher in the G/T of the DUOX1 gene carriers. This study is the first report of genetic markers associated with amiodarone-related adverse events conducted in humans. The obtained results indicate the necessity for a personalized approach to amiodarone administration.

A summary of the Russian clinical guidelines on the diagnosis and treatment of osteoporosis.

Key statements of the Russian clinical guidelines on the diagnosis and treatment of osteoporosis are summarized. They were developed by a task force representing the key Russian professional associations involved in the management of osteoporosis and approved by the Russian Ministry of Health. PURPOSE: To summarize key statements of the Russian clinical practice guidelines for the diagnosis and treatment of osteoporosis. METHODS: The Russian clinical guidelines on the diagnosis and treatment of osteoporosis were developed by a task force representing the key Russian professional associations involved in the management of osteoporosis: These comprised the Russian Association of Endocrinologists, the Russian Association for Osteoporosis, the Association of Rheumatologists of Russia, the Association of Orthopedic surgeons and Traumatologists of Russia, the Russian Association of Gynecologists-Endocrinologists, and the Russian Association of Gerontologists and Geriatrics. The guidelines are based on a systematic literature review and principles of evidence-based medicine and were compiled in accordance with the requirements for clinical recommendations developed by the Ministry of Health of the Russian Federation. RESULTS: Key statements included in the Russian guidelines of osteoporosis approved by the Russian Ministry of Health in 2021 are summarized. The statements are graded based on levels of evidence and supported by short comments. The guidelines are focused on the current approach to screening, diagnosis, differential diagnosis, and treatment of osteoporosis. CONCLUSION: These guidelines are a practical tool for general practitioners, as well as medical specialists, primarily endocrinologists, rheumatologists, orthopedic surgeons, and other physicians who are involved in the management of patients with osteoporosis.

Malignant Endo-suprasellar Glioma: A Case Report and a Brief Review of the Literature.

Introduction: Malignant sellar gliomas are very rare phenomena. To date, only few cases of sellar and suprasellar glioblastomas have been reported, most of which originate from the optic nerve or optic chiasm. Case Presentation: We present a 34-year-old woman with malignant endo-suprasellar glioma, originating from the pituitary stalk, which was initially classified as a macroprolactinoma. Conclusions: Although malignant sellar gliomas can mimic the clinical, endocrinological, and radiological features of pituitary macroadenomas, rapid progression without appropriate hormonal activity suggests their diagnosis. Considering the high malignant potential of sellar glioblastomas, it is important to discuss the specific features of these tumors and to investigate the possibility of differential diagnosis in the preoperative stage, which can be useful for early selection of the treatment plan.

Vitamin D and Its Role in Oral Diseases Development. Scoping Review.

Vitamin D is a fat-soluble secosteroid that plays a significant role in the whole body, including the maxillofacial region. The discovery of its receptors in many cells and organs made it possible to reveal the participation of vitamin D not only in the regulation of calcium phosphate metabolism, but also in immune processes, in providing anti-inflammatory and antimicrobial effects, slowing down cell proliferation and stimulating differentiation. In this literature review, we demonstrate the association between low vitamin D levels and the development of recurrent aphthous stomatitis, the course and response to treatment of squamous cell carcinoma of the oral cavity, the severity of periodontal diseases, and the processes of osseointegration and bone remodeling during dental implantation and guided tissue regeneration. The aim of our article was to demonstate a possible connection between vitamin D level and the oral diseases that can be presented at an oral surgery appointment, which will help clinicians to reduce the risk of early dental implant failure, ensure favorable outcomes of augmentative operations, as well as decrease the destructive effects of severe periodontitis and other conditions throug knowledge and timely lab tests and endocrinologist prescriptions.

Reproducibility and Interobserver Agreement of Different Thyroid Imaging and Reporting Data Systems (TIRADS).

INTRODUCTION: A number of classification systems (TIRADS) have been developed to estimate the likelihood of malignancy in thyroid nodules, but their reproducibility is yet to be assessed. We evaluated the interobserver variability and diagnostic performance of the TIRADS in Kwak's modification (Kw-TIRADS) and European TIRADS (EU-TIRADS). METHODS: Two independent specialists, blinded concerning the morphology of the nodules, evaluated ultrasound images of 153 thyroid nodules identified in 149 patients at multiple time points. RESULTS: The interobserver agreement (Cohen's κ) was 0.52 and 0.67 for Kw-TIRADS and EU-TIRADS, respectively, and rated as substantial. There were strong correlations between Kw-TIRADS and EU-TIRADS for the two observers with Spearman's coefficients of 0.731 (p = 0.00025) and 0.661 (p = 0.0012), respectively. Sensitivity of Kw-TIRADS for the diagnosis of thyroid cancer was 95-92.31% and that of EU-TIRADS was 92.31-89.74%, with specificity of about 60% for both TIRADS. CONCLUSION: Despite the wide variability in the description of single ultrasonographic features, both Kw-TIRADS and EU-TIRADS may be a useful diagnostic tool in clinical practice.

Clinical course and outcome of patients with ACTH-dependent Cushing's syndrome infected with novel coronavirus disease-19 (COVID-19): case presentations.

OBJECTIVE: To analyze the clinical presentations of patients with endogenous Cushing's syndrome (CS) affected by Coronavirus disease-19 (COVID-19). MATERIALS AND METHODS: Patients who were referred to our clinic with active CS from 31st March to 15th May 2020 were screened for COVID-19 using real-time reverse transcriptase-polymerase chain reaction (RT-PCR). Late-night serum cortisol (64-327 nmol/L), late-night salivary cortisol (LNSC) (0.5-9.4 nmol/L), or 24-h urinary free cortisol (24 hUFC) (100-379 nmol/24 h) were measured by electrochemiluminescence immunoassay. RESULTS: Among 22 patients with active CS we found three cases affected by COVID-19. Nonspecific inflammation markers were within the reference range or slightly elevated in these patients. A 71-year-old woman with newly diagnosed CS (late-night serum cortisol >1750 nmol/L, LNSC 908.6 nmol/L) developed dyspnea as an only symptom and died from bilateral polysegmantal hemorrhagic pneumonia 7 days later. A 38-year-old woman with a 5-year medical history of active Cushing's disease (CD) (late-night serum cortisol 581.3 nmol/L, 24 hUFC 959.7 nmol/24-h) suffered from dyspnea, cough, fever (39.3 °C) and chest pain. Oxygen therapy, antibiotics and symptomatic treatments lead to full recovery 24 days later. A 66-year-old woman with a 4-year medical history of mild CD (late-night serum cortisol 603.4 nmol/L, LNSC 10.03 nmol/L) tested positive for COVID-19 in routine screening and remained asymptomatic. CONCLUSIONS: The outcome of COVID-19 in patients with CS depends on the severity of hypercortisolism. Thus, severe hypercortisolism is a warning sign that CS affected by COVID-19 could require emergency care despite a lack of clinical presentations and low inflammation biomarkers.

[Alexithymia and its relation with eating disorders and obesity].

This manuscript provides a review of current literature on the relationship between overweight and alexithymia as a psychological factor associated with obesity, as well as the role of alexithymia in the development of various abnormalities and eating disorders (ED). Obesity is a multifactorial disease, and lifestyle characteristics are the most important pathogenetic links on its development, as well as a complex of genetic, epigenetic, biological and psychological factors that cause accumulation of excessive fat and prevent effective reduction and retention of body weight. One possible reason for the increased prevalence of obesity in adults is poor emotional management, which can affect healthy eating behavior and lifestyle. It was found that overweight and obese people have a high prevalence of alexithymia, and also the study shows its prognostic role in the development of ED. Alexithymia is a factor that not only predisposes to weight gain, but is also a significant predictor of inefficiency and premature termination of programs for the treatment of obesity and ED. Timely diagnosis and correction of alexithymic syndrome can help in developing the effective treatment strategies for obese patients.

Subclinical hyperthyroidism of variable etiology and its influence on bone in postmenopausal women.

OBJECTIVE: To evaluate the effects of subclinical hyperthyroidism of variable etiology on bone mineral density (BMD) and bone metabolism in postmenopausal women. DESIGN: T he study included data of 88 postmenopausal women classified into four groups depending on the etiology of subclinical hyperthyroidism: (1) 20 with toxic multinodular goiter without history of clinical hyperthyroidism; (2) 25 on levothyroxine suppressive therapy after thyroidectomy due to differentiated thyroid cancer; (3) 21 with Graves' disease (GD) receiving antithyroid drugs; (4) 22 healthy women matched for age and duration of menopause. In all subjects biochemical markers of bone turnover and B MD were determined. RESULTS: Biochemical markers of bone turnover were significantly higher (p-value =0.001) in all patients with subclinical hyperthyroidism compared to the control group (group 4). T he women of group 1 had significantly lower B MD at all regions of the skeleton, whereas the women of group 3 had significantly lower B MD at Total Hip (p-value = 0.013) and Radius Total (p-value = 0.0003) compared to group 4. No significant differences in B MD between groups 2 and 4 were detected. CONCLUSION: The etiology of subclinical hyperthyroidism influences B MD in postmenopausal women. Endogenous subclinical hyperthyroidism might be considered as an additional risk factor for osteoporosis in postmenopausal women, especially for cortical bone, whereas exogenous subclinical hyperthyroidism has no effect on BMD.