Evaluation of the structure, autoimmunity, and functions of the thyroid gland in familial Mediterranean fever patients.

Objective Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder that is frequently seen in the eastern Mediterranean region. The thyroid gland can be affected in FMF patients through autoimmunity or amyloidosis. Here, we aimed to evaluate the structure and functions of the thyroid gland in addition to possible autoimmunity in FMF patients. Subjects and methods The study was conducted by the Endocrinology and Metabolism and Internal Medicine Departments. Thirty FMF patients and 30 age and gender-matched healthy controls were enrolled in the study. Free thyroxin (fT4), free triiodothyronine (fT3), thyroid-stimulating hormone (TSH), and anti-thyroid peroxidase (anti-TPO) autoantibodies were investigated. Detailed thyroid grayscale and Doppler Ultrasonography examinations and shear-wave elastosonography (SWE) were performed in the patient and control groups. Results Anti-TPO was detected in 24% (n = 7) of the patients. On the grayscale US, mean thyroid volumes were similar between the FMF and the control groups (p > 0.05). By Doppler US, thyroid vascularity observed was detected in 10.3% (n = 3) of the patients. SWE revealed that the mean velocity value of right vs. left lobe in the patient group was 1.77 ± 0.45 m/s and 1.95 ± 0.51 m/s, respectively. Compared to the control group, the mean velocity values were significantly higher in the right (p = 0.004) and left (p = 0.01) lobes of the patient group. The mean stiffness value in the patient group was also significantly higher in the right and left lobes [10.13 ± 5.65 kPa (p = 0.005) and 12.24 ± 6.17 kPa (p = 0.02), respectively]. Conclusion Recognizing the complications of FMF early in the course of the disease is as important as the early diagnosis of the disorder. Based on this, thyroid functions and changes in its structure should be evaluated carefully for early diagnosis of a possible coexisting thyroid disorder. Arch Endocrinol Metab. 2020;64(1):66-70.

Evaluation of the structure, autoimmunity, and functions of the thyroid gland in familial Mediterranean fever patients

ABSTRACT Objective Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder that is frequently seen in the eastern Mediterranean region. The thyroid gland can be affected in FMF patients through autoimmunity or amyloidosis. Here, we aimed to evaluate the structure and functions of the thyroid gland in addition to possible autoimmunity in FMF patients. Subjects and methods The study was conducted by the Endocrinology and Metabolism and Internal Medicine Departments. Thirty FMF patients and 30 age and gender-matched healthy controls were enrolled in the study. Free thyroxin (fT4), free triiodothyronine (fT3), thyroid-stimulating hormone (TSH), and anti-thyroid peroxidase (anti-TPO) autoantibodies were investigated. Detailed thyroid grayscale and Doppler Ultrasonography examinations and shear-wave elastosonography (SWE) were performed in the patient and control groups. Results Anti-TPO was detected in 24% (n = 7) of the patients. On the grayscale US, mean thyroid volumes were similar between the FMF and the control groups (p > 0.05). By Doppler US, thyroid vascularity observed was detected in 10.3% (n = 3) of the patients. SWE revealed that the mean velocity value of right vs. left lobe in the patient group was 1.77 ± 0.45 m/s and 1.95 ± 0.51 m/s, respectively. Compared to the control group, the mean velocity values were significantly higher in the right (p = 0.004) and left (p = 0.01) lobes of the patient group. The mean stiffness value in the patient group was also significantly higher in the right and left lobes [10.13 ± 5.65 kPa (p = 0.005) and 12.24 ± 6.17 kPa (p = 0.02), respectively]. Conclusion Recognizing the complications of FMF early in the course of the disease is as important as the early diagnosis of the disorder. Based on this, thyroid functions and changes in its structure should be evaluated carefully for early diagnosis of a possible coexisting thyroid disorder. Arch Endocrinol Metab. 2020;64(1):66-70

Lipid profile and atherogenic indices and their association with platelet indices in familial Mediterranean fever.

OBJECTIVE: The aim of this study was to investigate lipid profiles and atherogenic indices and their association with platelet indices in Familial Mediterranean Fever (FMF) patients. METHODS: A total of 63 FMF patients and 51 healthy individuals were included in this retrospective study. Inflammatory marker values (erythrocyte sedimentation rate [ESR], C-reactive protein [CRP] and fibrinogen), platelet indices (mean platelet volume, plateletcrit value, platelet large cell ratio, and platelet distribution width), lipid profiles (levels of total cholesterol, triglycerides, high-density lipoprotein [HDL] cholesterol, and low-density lipoprotein cholesterol) were recorded. Atherogenic indices (atherogenic index of plasma [AIP], atherogenic coefficient [AC], Castelli's risk indices I and II [CRI I and II]) were calculated using lipid parameters. RESULTS: In FMF patients, while AIP, AC, and CRI I and II values were significantly higher than in the healthy control group, the HDL cholesterol level was significantly lower (all p<0.05). However, no significant difference was determined in terms of the other studied parameters (all p>0.05). In male FMF patients, whereas AIP, AC, and CRI I and II values were significantly higher than in female FMF patients, the platelet count, ESR, and HDL cholesterol levels were significantly lower (all p<0.05). The level of CRP was negatively correlated with HDL cholesterol (r=-0.275; p=0.032) and total cholesterol level (r=-0.313; p=0.014) in FMF patients. HDL cholesterol level was negatively correlated with disease duration (r=-0.269; p=0.049). CONCLUSION: The use of atherogenic indices may be recommended to identify patients with an increased risk of atherosclerotic cardiovascular disease in FMF, especially in male patients.

Fas and Fas ligand gene polymorphisms in Turkish patients with Familial Mediterranean Fever.

Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder characterized by recurrent fever, serositis, abdominal pain, arthritis, arthralgia and erysipelas like erythema. Fas and Fas ligand molecules play a central role in the apoptosis signaling of various cell types including neutrophils. Neutrophils are the major cell population involved in acute inflammation in patients with FMF and the role of Fas and Fas ligand molecules in this cells of FMF patients may be crucial. Therefore, in the present study, we aimed to investigate whether the Fas cell surface receptor gene (FAS); NM_000043.5: c.-671A>G (rs1800682, MvaI) and Fas ligand gene (FASLG), NM_000639.2: c.-844C>T (rs763110, BsrD1) functional polymorphisms in patients with FMF and their relation to the main clinical features of the disease. The polymorphisms in the promoter regions of FAS c.-671A>G and FASLG c.-844C>T were investigated in 97 non-related FMF patients and 70 non-related healthy controls by using PCR-RFLP technique. The frequencies of FAS c-671AG genotype and G allele were not significantly different between FMF patients and healthy subjects. The frequency of FASLG -844TC genotype was found significantly different between the patients with FMF and healthy controls whereas T or C allele frequency was not significantly different between the groups. Haplotype frequencies of the studied polymorphisms were also not significantly different between FMF patients and controls. There were no correlations between the studied FAS c.-671A>G and FASLG c.-844C>T polymorphisms and the main clinical features of FMF such as fever, arthritis, abdominal and chest pain, arthralgia and erysipelas-like erythema. Our findings suggest that FAS c.-671AG genotype or G allele and FASLG c.-844 allele are not to be a risk factor, whereas FASLG c.-844TC genotype may be protective in the studied Turkish population. According to our results we may suggest that although not statistically significant, higher frequencies of FASLG c.-844CC genotype in FMF patients may be related to delayed apoptosis of neutrophils and ultimately cause neutrophilic inflammation by increasing FASLG expression.

Impaired Pulmonary Function in Patients with Psoriasis.

BACKGROUND: Psoriasis is associated with chronic obstructive pulmonary disease. There is no study on the spirometric pulmonary function testing in patients with psoriasis. OBJECTIVE: The aim of this study was to compare the spirometric parameters in patients with psoriasis and controls. METHODS: Ninety-six patients with psoriasis and 60 sex- and age-matched control subjects were included in this study. Spirometric pulmonary function testing, including percent forced vital capacity (FVC%), percent forced expiratory volume in the 1st second (FEV1%), forced expiratory flow at 25-75% of FVC (FEF25-75%), and FEV1/FVC ratio, was performed in all study subjects. RESULTS: The mean FEV1/FVC ratio and FEF25-75% were significantly lower in the psoriasis patients than in the controls (82.4 ± 6.3 vs. 90.7 ± 10.7, p < 0.001, and 86.7 ± 24.2 vs. 94.8 ± 23.0, p = 0.04, respectively). Both FEV1/FVC ratio and FEF25-75% were significantly associated with the presence of psoriasis (p < 0.001 and p = 0.029, respectively). CONCLUSION: Psoriasis patients had lower mean FEV1/FVC ratios and FEF25-75%, compared with the control subjects. FEV1/FVC and FEF25-75% are independently associated with the presence of psoriasis.

Protective Effects of Intralipid and Caffeic Acid Phenethyl Ester on Nephrotoxicity Caused by Dichlorvos in Rats.

The protective effects of Caffeic Acid Phenethyl Ester (CAPE) and intralipid (IL) on nephrotoxicity caused by acute Dichlorvos (D) toxicity were investigated in this study. Forty-eight Wistar Albino rats were divided into 7 groups as follows: Control, D, CAPE, intralipid, D + CAPE, D + IL, and D + CAPE + IL. When compared to D group, the oxidative stress index (OSI) values were significantly lower in Control, CAPE, and D + IL + CAPE groups. When compared to D + IL + CAPE group, the TOS and OSI values were significantly higher in D group (P < 0.05). When mitotic cell counts were assessed in the renal tissues, it was found that mitotic cell count was significantly higher in the D group while it was lower in the D + CAPE, D + IL, and D + IL + CAPE groups when compared to the control group (P < 0.05). Also, immune reactivity showed increased apoptosis in D group and low profile of apoptosis in the D + CAPE group when compared to the Control group. The apoptosis level was significantly lower in D + IL + CAPE compared to D group (P < 0.05) in the kidneys. As a result, we concluded that Dichlorvos can be used either alone or in combination with CAPE and IL as supportive therapy or as facilitator for the therapeutic effect of the routine treatment in the patients presenting with pesticide poisoning.

Relation of fragmented QRS to tissue Doppler-derived parametersin patients with familial Mediterranean fever.

BACKGROUND: Familial Mediterranean fever (FMF) may pose a risk for cardiovascular diseases due to continuous inflammatory status observed during the course of the disease. Recently, the presence of fragmented QRS (fQRS) has been recognized as a predictor of myocardial fibrosis. In this study, we aim to investigate the frequency of fQRS and its relation to Doppler-based indices. METHODS: This study consisted of 80 FMF patients and 30 healthy control subjects. fQRS pattern was defined as the presence of additional R waves or RSR', evidenced by notched R or S wave on electrocardiography (ECG). The patient and the control groups underwent conventional echocardiography and tissue Doppler echocardiography. RESULTS: There was no significant difference between groups regarding age (29 ± 12 vs 29 ± 15). FMF patients exhibited a statistically higher frequency of fQRS (% 56 vs % 13) (p < 0.01). E/Em ratio showed a statistically significant increase in the FMF group with fQRS (p < 0.0001), while the mean Em value was markedly lower (p < 0.0001). CONCLUSIONS: FMF patients displayed a statistically significant increase in frequency of fQRS. Doppler-derived diastolic index was statistically significantly impaired in FMF patients with fQRS as compared with the patients without fQRS. In conclusion, fQRS might be a new noninvasive marker for cardiac involvement in FMF patients.

Frequency of MEFV gene mutations in Hatay province, Mediterranean region of Turkey and report of a novel missense mutation (I247V).

In the present study, 1000 patients with clinical suspicion of FMF were retrospectively reviewed to determine the spectrum of MEFV gene mutations by using DNA sequence analysis between September, 2008 and April, 2012. Sixteen different mutations and 55 different genotypes were detected in 618 of 1000 patients. Among 16 different mutations, R202Q (21.35%) was the most frequently observed mutation; followed by E148Q (8.85%), M694V (7.95%), M680I (2.40%), V726A (1.85%), M694I (0.95%), A744S (0.80%), R761H (0.55%), P283L (0.35%), K695R (0.20%), E230K (0.15%), L110P (0.10%), I247V (0.05%), G196W (0.05%) and G304R (0.05%). In the present study, a novel missense mutation (I247V) and a silent variant (G150G) were identified in the MEFV gene. On the other hand, P238L, G632A and G304R mutations are the first cases reported from Turkey. Our results indicated that MEFV mutations are highly heterogeneous in our study population as in other regions of Turkey and mutation screening techniques such as PCR-RFLP, amplification refractory mutation system or reverse hybridization do not adequately detect uncommon or novel mutations. Therefore, it was proven that sequence analysis of the MEFV gene could be useful for detection of rare or unknown mutations.

Cases of organophosphate poisoning treated with high-dose of atropine in an intensive care unit and the novel treatment approaches.

Organophosphate poisoning is a life-threatening condition, which is being responsible for the symptoms due to cholinergic effects. Clinical status and blood levels of cholinesterase are used its diagnosis. While atropine and pralidoxime (PAM) appear as essential medications, hemofiltration treatments and lipid solutions have been widely studied in recent years. In this study, the importance of high-dose atropine therapy and early intervention and novel treatment approaches are discussed. Records of a total of 25 patients treated for organophosphate poisoning in the intensive care unit (ICU) between April 2007 and December 2011 were evaluated retrospectively. Of the 25 patients, 14 (56%) were male and 11 (44%) were female with a mean age of 34.8 ± 17.66 years (range: 14-77 years). The patients were most frequently admitted in June (n = 4) and July (n = 4) (16%). Of the 25 patients, 22 patients (88%) were poisoned by oral intake, two (8%) by inhalation, and one (4%) by dermal route. Of them, 20 patients (80%) took organophosphates intentionally for suicidal purposes, while five (20%) cases poisoned due to accidental exposure. The scores of Glasgow Coma Scale of nine patients (36%) were below 8 point upon admission to hospital. The highest dose of atropine given was 100 mg intravenously on admission and 100 mg/h/day during follow-up. The total dose given was 11.6 g/12 days. A total of 11 patients (44%) were on mechanical ventilation for a mean duration of 5.73 ± 4.83 days. The mean duration of ICU stay was 6.52 ± 4.80 days. Of all, 23 patients (92%) were discharged in good clinical condition and one patient (4%) was referred to another hospital. This study suggests that atropine can be administered until secretions disappear and intensive care should be exerted in follow-up of these patients. In addition, in case of necessity for high doses, sufficient amounts of atropine and PAM should be available in hospitals.

Spectrum of α-thalassemia mutations including first observation of - -(FIL) deletion in Hatay Province, Turkey.

Alpha thalassemia (α-thal) is one of the most common genetic disorders in the world. It is characterized by the absence or reduced expression of α-globin genes. The frequency of α-thal mutations in the province of Hatay in South Turkey is unknown. Therefore, in the present study, we aimed to investigate the spectrum of α-thal mutations in this province. Three hundred and nine patients were tested for α-thal mutations by using reverse dot blot hybridization technique and nine different mutations were detected in 97 of them. Among the 9 different mutations found, the most frequent mutations were the -α(3.7) (43.81%), -α2(-5nt) (6.70%), - -(MED) (5.67%) and α2(Poly A2) (2.57%). In the present study, - -(FIL) mutation was detected in a patient for the first time in Turkey. Our results indicated that α-thal mutations are highly heterogeneous and -α(3.7) is the most prevalent mutation in Hatay province of South Turkey. In addition, - -(FIL) mutation was detected in a patient for the first time in Turkey. This new finding may contribute to the establishment of a national mutation database and genetic counseling.

Protective effects of beta glucan and gliclazide on brain tissue and sciatic nerve of diabetic rats induced by streptozosin.

There have not been yet enough studies about effects of beta glucan and gliclazide on oxidative stress created by streptozotocin in the brain and sciatic nerve of diabetic rats. The aim of this paper was to investigate the antioxidant effects of gliclazide and beta glucan on oxidative stress and lipid peroxidation created by streptozotosin in brain and sciatic nerve. Total of 42 rats were divided into 6 groups including control, diabetic untreated (DM) (only STZ, diabetic), STZ (DM) + beta glucan, STZ (DM) + gliclazide, only beta glucan treated (no diabetic), and only gliclazide treated (no diabetic). The brain and sciatic nerve tissue samples were analyzed for malondialdehyde (MDA), total oxidant status (TOS), total antioxidant status (TAS), oxidative stress index (OSI), and paraoxonase (PON-1) levels. We found a significant increase in MDA, TOS, and OSI along with a reduction in TAS level, catalase, and PON-1 activities in brain and sciatic nerve of streptozotocin-induced diabetic rats. Also, this study shows that in terms of these parameters both gliclazide and beta glucan have a neuroprotective effect on the brain and sciatic nerve of the streptozotocin-induced diabetic rat. Our conclusion was that gliclazide and beta glucan have antioxidant effects on the brain and sciatic nerve of the streptozotocin-induced diabetic rat.