Investigation of the relationship between disease severity and development of amyloidosis and genetic mutation in FMF disease.

BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive genetic disease. Amyloidosis is the most important complication of FMF that determines the prognosis of the disease. AIMS: In our study, we have investigated the relationship between the genetic mutations with the disease severity and the frequency of development of amyloidosis inpatients with FMF. METHODS: A total of 148 patients with FMF were included this study. The relationship between disease activity score, clinical findings, response to treatment, and presence of amyloid and genetic mutations were evaluated. RESULTS: One hundred forty-eight patients (80 women (54%), 68 men (46%)) were enrolled over 18 years of age. The mean age of the patients was 30.98 ± 11.18 (18-67) years. In our study, the most frequently seen mutations are M694V, M680I, R202Q, and E148Q, respectively. The most common genotype is M694V/M694V mutation and this mutation has been found in 37 patients (25%). In 25 patients, M694V heterozygous have been found (16.8%). The third frequent mutationis M694V/M680I/R202Q has been found in13 patients (8.7%). In 23 patients, amyloidosis has been developed. Ten patients with amyloidosis have M694V homozygous mutations (27%) and 5 patients with amyloidosis M694V heterozygous (20%) mutations. The both of the two patients who carry the homozygous E148Q mutations have developed amyloidosis. CONCLUSIONS: In our study, the distribution of the frequency of mutations is consistent with other similar studies performed in Turkey. We found that patients with M694V mutation had a significantly higher rate of exacerbation, higher drug doses for treatment, and a close relationship with amyloidosis, as compared to patients with other mutations.

Evaluation of subclinical atherosclerosis in obese patients with three noninvasive methods: Arterial stiffness, carotid intima-media thickness, and biomarkers of endothelial dysfunction.

Objective: In this study, we aimed to evaluate subclinical atherosclerosis in patients with obesity who had cardiovascular disease risk indicators such as arterial stiffness, which is evaluated using pulse wave velocity (PWV), carotid intima-media thickness (CIMT), and biomarkers of endothelial dysfunction such as endocan, ADAMTS97, and ADAMTS9. Subjects and methods: Sixty obese subjects, including 23 subjects with body mass index (BMI) ≥ 40, 37 subjects with BMI ≥ 30 but < 40, and 60 age-and sex-matched control subjects, were included in our study. Serum endocan, ADAMTS97, and ADAMTS9 levels as well as PWV and CIMT measurements of the subjects in the obese and control groups were performed. Results: In the obesity group, PWV levels were significantly higher than they were in the control group and endocan levels were significantly lower than they were in the control group. When we compared the obese group with BMI ≥ 40 and the control group, the BMI ≥ 40 group had significantly higher PWV and CIMT levels than the control group had, whereas endocan, ADAMTS7, and ADAMTS9 levels were similar to those of the control group. When we compared the obese group with BMI ≥ 30 < 40 to the control group, endocan levels were lower in the group with BMI ≥30 < 40, and PWV and CIMT levels were similar to the control group. Conclusion: We found that arterial stiffness and CIMT increased in obese patients with BMI ≥ 40 and that increased arterial stiffness was associated with age, systolic blood pressure, and HBA1C. In addition, we found that the endocan levels were lower in obese patients than they were in nonobese control individuals.

Thyroid Nodules in Patients with Acromegaly: Frequency According to the ACR TI-RADS Classification and its Relationship with Disease Activity.

PURPOSE: In our study, we aimed to determine the frequency of thyroid nodules in patients with acromegaly according to the American College of Radiology (ACR) Thyroid Imaging, Reporting and Data System (TI-RADS) classification and its relationship with acromegaly disease activity. METHODS: A total of 56 patients with acromegaly and age, sex, and body mass index matched with 56 healthy control subjects were included in our study. Thyroid-stimulating hormone, free thyroxine, and anti-thyroperoxidase antibody levels of patients and control subjects were measured. In addition, patients and healthy controls were evaluated by ultrasonography to determine thyroid structure, thyroid volume, and thyroid nodules and to make ACR TI-RADS classification. RESULTS: Thyroid nodules were present in 31 (55.4%) of 56 patients in the acromegaly group and 20 (35.7%) of 56 subjects in the control group, and the frequency of thyroid nodules was significantly higher in the acromegaly group (p=0.038). The mean number of nodules in the acromegaly group and control group was 1.27±1.43 and 0.48±0.73, respectively, and the mean number of nodules was significantly higher in the acromegaly group (p=0.003). The number of patients with TI-RADS 1, TI-RADS 2, and TI-RADS 4 nodules in the acromegaly group was higher than the control group (p=0.026, p=0.049, p=0.007, respectively). No difference was found in terms of cytological findings between those who have undergone FNAB in the acromegaly group and control group. CONCLUSION: In our study, we found that the frequency of thyroid nodules, the number of thyroid nodules, and the number of TI-RADS 1, TI-RADS 2, and TI-RADS 4 nodules increased in patients with acromegaly. There was no significant difference between acromegaly disease activity and thyroid nodule frequency, number of thyroid nodules, and TI-RADS classifications.

Evaluation of subclinical atherosclerosis in obese patients with three noninvasive methods: Arterial stiffness, carotid intima-media thickness, and biomarkers of endothelial dysfunction

ABSTRACT Objective: In this study, we aimed to evaluate subclinical atherosclerosis in patients with obesity who had cardiovascular disease risk indicators such as arterial stiffness, which is evaluated using pulse wave velocity (PWV), carotid intima-media thickness (CIMT), and biomarkers of endothelial dysfunction such as endocan, ADAMTS97, and ADAMTS9. Subjects and methods: Sixty obese subjects, including 23 subjects with body mass index (BMI) ≥ 40, 37 subjects with BMI ≥ 30 but < 40, and 60 age-and sex-matched control subjects, were included in our study. Serum endocan, ADAMTS97, and ADAMTS9 levels as well as PWV and CIMT measurements of the subjects in the obese and control groups were performed. Results: In the obesity group, PWV levels were significantly higher than they were in the control group and endocan levels were significantly lower than they were in the control group. When we compared the obese group with BMI ≥ 40 and the control group, the BMI ≥ 40 group had significantly higher PWV and CIMT levels than the control group had, whereas endocan, ADAMTS7, and ADAMTS9 levels were similar to those of the control group. When we compared the obese group with BMI ≥ 30 < 40 to the control group, endocan levels were lower in the group with BMI ≥ 30 < 40, and PWV and CIMT levels were similar to the control group. Conclusions: We found that arterial stiffness and CIMT increased in obese patients with BMI ≥ 40 and that increased arterial stiffness was associated with age, systolic blood pressure, and HBA1C. In addition, we found that the endocan levels were lower in obese patients than they were in nonobese control individuals.