Molecular Mechanisms of Distinct Diseases

Molecular medicine describes molecular structures and mechanisms and this chapter focuses on molecular and genetics errors of diseases. Diseases can be classified into deficiency diseases, hereditary diseases, infectious diseases and physiological diseases and to get a glimpse of the mechanisms the chapter covers the most common disease of each class

Previous, simultaneous, or subsequent occurrence of malignant tumours in patients with primary hyperparathyroidism: a closer look at the single-tertiary-centre cases

Introduction: Our aims were to explore the relationship between primary hyperparathyroidism (pHPT) and malignant tumour development, to determine the frequency and the time of occurrence of malignant tumours in patients with pHPT, and to evaluate the characteristics of pHPT in these patients. Material and methods: This retrospective cohort study included consecutive individuals who were diagnosed with pHPT aged 18 years or older in a university hospital during a 7-year period. A total of 198 patients with pHPT were reviewed retrospectively. Demographic, clinical, biochemical, radiologic findings, and histopathological diagnosis were collected from the electronic medical records of the hospital system. Results: The mean age of the study population was 58 ± 13 years and was predominantly female (female/male: 162/36). There were 42 (21.2%) patients with malignant tumours. Five (12%) out of 42 patients had metachronous double malignancies. The most common 2 concurrent malignancies were breast (36.1%) and thyroid (17.0%). Sixty-eight per cent of the malignant tumours occurred before the diagnosis of pHPT. A higher percentage (87.5%) of simultaneous tumours was seen in the thyroid gland. No statistically significant differences were observed between patients with and without malignant tumours in terms of demographic, clinical, biochemical, radiological, and histopathological features. The median follow-up duration was 24 months after parathyroid surgery. Conclusion: The results of this study revealed that pHPT was associated with various tumour types. The frequency of malignant tumours was 21.2%. Breast and thyroid cancers were the most common 2 cancers coexisting with pHPT. A large percentage of malignant tumours occurred before the diagnosis of pHPT. A higher percentage of simultaneous tumours was seen in the thyroid gland. pHPT patients with and without malignant tumours seemed to have similar characteristics

Supplementary Table 2

Suplementary Table 2. Comparison of pre-COVID-19 classical SAT and COVID-19 period classical SAT in terms of hypothyroidism and recurrence</p

Suplementary Table 3A, 3B and 3C

   Table 3A. Comparison of demographic data and clinical characteristics of the groups according to ≤30 and >30 days follow-up.    Table 3B. Comparison of demographic data and clinical characteristics of the groups according to    Table 3C. Comparison of demographic data and clinical characteristics of the groups according to </p

Suplementary Table 3A and 3B

Table 3A. Comparison of demographic data and clinical characteristics of the groups according to ≤30 and >30 days follow-up. Table 3B. Comparison of demographic data and clinical characteristics of the groups according to </p

Suplementary Table 3A and 3B

Table 3A. Comparison of demographic data and clinical characteristics of the groups according to ≤30 and >30 days follow-up. Table 3B. Comparison of demographic data and clinical characteristics of the groups according to </p

The effect of hypervitaminosis D and intoxication on hematological parameters

This study aimed to compare the hematological parameters of patients with very high and normal 25-hydroxyvitamin-D3 (25(OH)D3) levels. METHODS: This study was designed as a retrospective cross-sectional study. The patients were divided into three groups according to their 25(OH)D3 levels: groups 1, 2 and 3 consists of patients with normal 25(OH)D3 levels (30-88 ng/mL), hypervitaminosis D (89-149 ng/mL) and vitamin D intoxication (>150 ng/mL), respectively. According to vitamin D levels, statistical analysis was performed by comparing the biochemical and hematological data between the groups. RESULTS: This study evaluated 120 patients (40 patients) in three equal groups. A statistically significant difference was found between the three groups in hemoglobin (P=0.03), hematocrit (P=0.01), red blood cell levels (P=0.03), leukocyte count (P<0.001), neutrophil count (P<0.001), lymphocyte count (P=0.006), mean platelet volume (P=0.04), and neutrophil/lymphocyte ratio (P=0.03). In post-hoc analysis, hemoglobin, hematocrit and RBC were significantly higher in group 1 than in group 3 (post-hoc Tukey, P<0.05). A statistically significant negative correlation was noted between 25(OH)D3 level and hemoglobin (r=-0.236), hematocrit (r=-0.230), and red blood cell (r=-0.265) levels. CONCLUSIONS: Vitamin D intoxication has been observed to affect hemoglobin, hematocrit, and RBC levels negatively. However, more studies are needed to clarify the effects and mechanisms of high vitamin D levels on the hematopoietic system

Effect of Exenatide on Nonalcoholic Steatohepatitis and Inflammation-Related Indices in Diabetic Patients with Non-Alcoholic Fatty Liver Disease

Diabetes mellitus is a chronic disease often associated with nonalcoholic steatohepatitis (NASH) and obesity. Both obesity and NASH are closely related to inflammation. In this study, we examined how exenatide, a glucagon-like peptide 1 analog, affects inflammatory and NASH-related markers in patients with diabetes. Methods: This retrospective study was conducted on 100 patients who visited our hospital with a diagnosis of type 2 diabetes mellitus. NASH-related indices and inflammatory indices were calculated from data obtained at baseline and at the third month of exenatide treatment. All data were analyzed first in all patients, and then the patients were grouped according to glycosylated hemoglobin A1c (HbA1c) levels of <8% or ≥8% and body mass index (BMI) of <40 or ≥40 kg/m2 and their data were reanalyzed. Results: A highly significant improvement was found in the conventional lipid profile. Among NASH-related indices, the nonalcoholic fatty liver disease (NAFLD) fibrosis score and aspartate aminotransferase-platelet ratio index (APRI) showed statistically significant decreases (P < 0.001 and P = 0.016, respectively). In particular, these significant decreases were independent of BMI and glycemic parameters. No statistically significant change was found in inflammatory indices. The decreases in NAFLD fibrosis score and APRI were statistically more significant in the group with HbA1c ≥8% (P = 0.021 and P = 0.002, respectively) and the group with BMI ≥40 kg/m2 (P = 0.002 and P = 0.029, respectively). Conclusions: Besides its established effects, such as lowering fasting plasma glucose levels and weight loss, exenatide exerts positive effects on the conventional lipid profile and NASH-associated indexes

Biochemical characteristics and calcium and PTH levels of patients with high normal and elevated serum 25(OH)D levels in Turkey: DeVIT-TOX survey

A Summary Vitamin D intake over the recommended dose is usually associated with high serum 25(OH)D levels and generally not associated with symptoms of hypercalcemia. High doses of cholecalciferol need to be avoided to protect against vitamin D toxicity and related complications. Strict adherence to the clinical guidelines for treating vitamin D deficiency can ensure safe and effective treatment. Purpose We observed a tendency to use high doses of cholecalciferol for vitamin D deficiency treatment or vitamin D supplementation. We aimed to determine the biochemical characteristics of patients with high normal and elevated serum 25(OH)D levels. Methods An online invitation was sent to all tertiary endocrinology clinics in Turkey to complete an online retrospective survey (DeVIT-TOX Survey) for patients diagnosed with high serum 25(OH)D levels (> 88 ng/mL) between January 2019 and December 2019. The patients were evaluated according to the presence of signs and symptoms of hypercalcemia and doses of vitamin D intake, evaluated into the following three groups according to their 25(OH)D levels: group 1, > 150 ng/mL; group 2, 149-100 ng/mL; and group 3, 99-88 ng/mL. Results A total of 253 patients were included in the final analysis (female/male: 215/38; mean age, 51.5 +/- 15.6 years). The average serum 25(OH)D level was 119.9 +/- 33 (range, 88-455) ng/mL, and the average serum calcium level was 9.8 +/- 0.7 (range, 8.1-13.1) mg/dL. Most (n = 201; 75.4%) patients were asymptomatic despite having high serum 25(OH)D and calcium levels. The serum 25(OH)D level was significantly higher in the symptomatic groups than in the asymptomatic groups (138.6 +/- 64 ng/mL vs. 117.7 +/- 31 ng/mL, p < 0.05). The most common cause (73.5%) associated with high serum 25(OH) D levels was the inappropriate prescription of a high dose of oral vitamin D (600.000-1.500.000 IU) for treating vitamin D deficiency/insufficiency in a short time (1-3 months). The cut-off value of 25 (OH) D level in patients with hypercalcemia was found to be 89 ng/mL [median 116.5 (89-216)]. Conclusions High dose of vitamin D intake is associated with a high serum 25 OH D level, without symptoms of hypercalcemia. Inappropriate prescription of vitamin D is the primary cause for elevated 25(OH) D levels and related hypercalcemia. Hypercalcemia may not be observed in every patient at very high 25(OH) D levels. Adherence to the recommendation of guidelines is essential to ensure safe and effective treatment of vitamin D deficiency