[Show abstract][Hide abstract] ABSTRACT: High frequencies of inherited variants in the Mediterranean fever (MEFV) gene have been identified in patients with multiple myeloma (MM). The sample size of the present pilot study was small, therefore, the actual frequency of inherited variants in the MEFV gene could be investigated in patients with MM. Twenty-eight patients with MM and 65 healthy controls were included in the study. Six heterozygous and one homozygous (E148Q/E148Q) variant was identified in patients with MM. None of the patients had a family history compatible with familial Mediterranean fever. In the healthy control group, 11 heterozygous variants were identified. The difference in the overall frequency of the inherited variants in the MEFV gene between the MM patients and the controls was statistically significant (χ(2)=4.905; P=0.027). In conclusion, a high frequency of inherited variants in the MEFV gene was identified in patients with MM. Based on the current data, it is hypothesized that the MEFV gene is a cancer susceptibility gene. Additional evidence, such as familial aggregation, monozygotic versus dizygotic twin concordance, and tumors in genetically engineered model organisms, is required in order to support this hypothesis.
[Show abstract][Hide abstract] ABSTRACT: Objective:
As little is known about relationship between acylation stimulating protein (ASP) and oxidative stress, whether there is any link between ASP and oxidative stress in young obese males were investigated.
Design and methods:
Forty-five obese (median body mass index (BMI) = 36.99 (IQR = 3.65) kg m(-2)) male subjects (median age = 22 (IQR = 6) years) and 24 age-matched (median age = 22.5 (IQR = 4.8) years) healthy male volunteers (median body mass index (BMI) = 23.67 (IQR = 2.45) kg m(-2)) were recruited into the study. All obese subjects have BMI > 30 kg m(-2), while all controls have BMI < 25 kg m(-2).
Fasting plasma ASP, lipid hydroperoxide, high sensitivity C-reactive protein (hs-CRP), fasting insulin, triglyceride, LDL-cholesterol levels and HOMA-IR were higher, whereas the mean HDL-cholesterol levels and glutathione peroxidase (GPx) enzyme activity were significantly lower in obese subjects than controls. The linear regression analysis showed that lipid hydroperoxide was independently associated with only BMI, while ASP was independently associated with BMI and triglyceride.
The present data support the concept that obesity occurs under condition of compex interactions by adipokines, insulin, inflammation, and oxidative stress.
[Show abstract][Hide abstract] ABSTRACT: To provide insight into the factors by which obesity in itself may directly lead to early arterial damage, we aimed to determine early sonographic markers of obesity-related vascular dysfunction in young obese males.
Thirty-five young obese males and 23 age-matched healthy male volunteers were recruited into the study. Common carotid artery pulsatility index and resistance index were calculated from blood flow velocities curves obtained by pulsed Doppler ultrasonography.
The mean pulsatility index, resistance index, body mass index, waist circumference, systolic and diastolic blood pressure, homeostasis model assessment for insulin resistance, plasma fasting glucose, insulin, C-peptide, triglycerides, low-density lipoprotein cholesterol, and high-sensitivity C-reactive protein were statistically higher in obese subjects than in healthy controls.
Our results suggest that depressed vessel compliance and increased vascular resistance are features of young, obese, normotensive subjects independently of and in addition to cardiovascular risk factors. As changes in arterial wall properties may be incipient in young obese subjects, future studies will be required to demonstrate whether early intervention such as diet and exercise in this population can improve vascular functions.
No preview · Article · Jul 2012 · Journal of Clinical Ultrasound
[Show abstract][Hide abstract] ABSTRACT: We investigated the frequency of inherited variants in the MEFV gene, which is mutated in familial Mediterranean fever (FMF), in patients with acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). Eight MEFV gene variants (M694I, M694V, M680I (G/C-A), V726A, R761H, E148Q and P369S) were analyzed in 33 MDS patients, 47 AML patients and 65 healthy controls; none had a history or family history compatible with FMF. We identified two homozygous (E148Q/E148Q), one compound heterozygous (M694V/E148Q) and five heterozygous inherited variants in the MEFV gene in AML patients. We also identified nine heterozygous variants in MDS patients, while we found 11 heterozygous variants in controls. The mean overall frequency of inherited variants in the MEFV gene rate was higher in MDS (χ
2 = 4.241; P = 0.039) and AML (χ
2 = 3.870; P = 0.043) patients than in healthy controls. In conclusion, this study reports high frequency of inherited variants in the MEFV gene in patients with MDS and AML. However, the hypothesis that MEFV is a cancer susceptibility gene at this point remains speculative. Additional evidence from future studies is needed to allow a more thorough evaluation of this hypothesis.
No preview · Article · Feb 2012 · International journal of hematology
[Show abstract][Hide abstract] ABSTRACT: The aim was to evaluate the therapeutic effectiveness of granulocyte colony-stimulating factor (G-CSF) mobilized peripheral blood mononuclear cells (PBMNCs) in critical limb ischemia (CLI) of type 2 diabetic patients.
Forty diabetic patients with CLI were enrolled and randomized to treatment and control groups. In the treatment group, the patients received subcutaneous injections of recombinant human G-CSF (30 MU/day) for 5 days to mobilize stem cells. PBMNCs were collected and transplanted by multiple intramuscular injections of 1 ml in 1-1.5-cm depth into ischemic limbs.
At the end of 12 weeks of follow-up, the baseline and end point results in transplant group were as follows: Fontaine score improved from 3.8±03 to 3±0.5 (P=.0001), ankle brachial pressure index increased from 0.68±0.24 to 0.87±024 (P=.001), transcutaneous oxygen increased from 33±14 mmHg to 44±10 mmHg (P=.0001), and 6-min walking distance improved from 280±82 m to 338±98 m (P=.0001). Pain score decreased from 8.2±1.3 to 5.63±1.6 (P=.001), and the number of patients with limb ulcers was reduced from 9/20 (45%) to 3/20 (15%) (P=.031). In the control group, Fontaine score, 6-min walking distance, and pain score were improved; ankle brachial pressure index and transcutaneous oxygen pressure were not improved. The number of patients with limb ulcers did not change in the control group. There are improvement in amputation rates, collateral vessel development, and number of limb ulcers healed.
These results indicate that the autologous transplantation of G-CSF that mobilized PBMNCs in CLI diabetic patients is safe and effective in patient compliant reduction and improved perfusion.
No preview · Article · Jan 2012 · Journal of diabetes and its complications
[Show abstract][Hide abstract] ABSTRACT: In the present study, we aimed to determine the frequency of inherited variants in the MEFV (Mediterranean FeVer), the gene responsible for familial Mediterranean fever (FMF), gene in patients with acute lymphocytic leukemia (ALL). The eight MEFV gene variants (M694I, M694V, M680I (G/C-A), V726A, R761H, E148Q and P369S) were detected in 36 patients with ALL and 65 healthy controls; none had own and/or family history compatible with FMF. We identified 11 heterozygous inherited variants in the MEFV gene in both ALL patients and controls. The mean overall frequency of inherited variants in the MEFV gene rate was higher in ALL patients than healthy controls (P = 0.040). It is interesting to note that M680I/0 is predominant variant in patients with ALL. In addition, E148Q variant frequency was also significantly higher in the patient group than the controls (P = 0.012). In conclusion, overall frequency of inherited variants in the MEFV gene was found to be higher in patients with ALL. Based on the present data, it is difficult to reach a definitive conclusion regarding the possibility that inherited variants in the MEFV gene could represent a causative role in ALL. However, the data of our study may provide some new insights in understanding of individual genetic differences in susceptibility to these neoplasms. Further investigations are needed to determine the actual role of inherited variants in the MEFV gene in pathogenesis of ALL.
Full-text · Article · Sep 2011 · Indian Journal of Hematology and Blood Transfusion
[Show abstract][Hide abstract] ABSTRACT: The aim of this study is to examine the relation between body iron, oxidative stress and cognitive function in elderly.
Eighty-seven elderly residents from nursing homes were the subjects of our study. Cognitive status was screened by the Mini-Mental State Examination (MMSE). Of the 87 eligible subjects, 46 patients who obtained 24 or fewer points on the MMSE scale were considered as subjects with cognitive dysfunction. The control group consisted of 41 subjects who obtained more than 24 points on the MMSE. Routine biochemical analyses, parameters of iron metabolism, malondialdehyde (MDA) and glutathione peroxidase (GSH-Px) were determined in all subjects.
There were statistically significant increases in serum iron, transferrin saturation, ferritin and MDA levels; whereas there was a statistically significant decrease in serum GSH-Px enzyme activity and serum sodium levels in subjects with cognitive dysfunction. A significant negative correlation was found between serum iron, transferrin saturation, ferritin and MMSE score. There was a negative correlation between MMSE score and serum MDA; however, a positive significant correlation was found between MMSE score and both GSH-Px enzyme activity and serum sodium.
Our study provides evidence of increased markers of iron deposition and oxidative stress in patients with cognitive dysfunction. It seems likely that these markers negatively affect the MMSE score. Interestingly, we did not find any correlation between the markers of iron deposition and oxidative stress. Future studies will be required to demonstrate whether diminishing iron and oxidative stress will enhance MMSE score and thereby ameliorate cognitive impairment.
No preview · Article · Mar 2011 · Geriatrics & Gerontology International
[Show abstract][Hide abstract] ABSTRACT: The aim of this study was to determine the rate of MEFV gene mutations, the gene responsible for familial Mediterranean fever (FMF), in patients with hematolymphoid neoplasm. The rate of the five most common MEFV gene mutations (M694V, M680I, V726A, M694I and E148Q) was determined in 46 patients with hematolymphoid neoplasm. We found a high frequency of carriers in patients with multiple myeloma (60%) and acute lymphocytic leukaemia (33.3%), whereas patients with chronic lymphocytic leukaemia (9%) and non-Hodgkin lymphoma (5%) had a low mutation carrier rate. There is no MEFV gene mutation in patients with Hodgkin lymphoma. Furthermore, the statistically significant predominance of strong heterozygous mutations such as M694V and M680I in patients with hematolymphoid neoplasm; none had own and/or family history compatible with FMF, is interesting. In conclusion, we found a high frequency of carriers for MEFV gene in patients with multiple myeloma and acute lymphocytic leukaemia. The data of our study may provide some new insights in understanding of individual genetic differences in susceptibility to these neoplasms.
No preview · Article · Oct 2010 · International Journal of Immunogenetics
[Show abstract][Hide abstract] ABSTRACT: We aimed to investigate the rate of MEFV, the gene mutated in familial Mediterranean fever, mutations in patients with myeloid neoplasm and to determine if known mutations of MEFV cause a tendency for myeloid neoplasms. The frequency of the five most common MEFV gene mutations (M694V, M680I, V726A, E148Q and M694I) was determined in 26 patients with myeloid neoplasm. We identified 1 homozygous (E148Q/E148Q), 1 compound heterozygous (M694V/E148Q) and 5 heterozygous MEFV gene mutations; none had their own and/or family history compatible with familial Mediterranean fever. The mean overall mutation rate was 0.269. We found a high frequency of carriers in patients with myelodysplastic syndrome (66.6%), polycythemia vera (33.3%) and acute myeloid leukemia (28.6%). However, there was no MEFV gene mutation in patients with chronic myeloid leukemia. In conclusion, this study reports for the first time a possibly high prevalence of MEFV gene mutations in patients with myeloid neoplasm, especially myelodysplastic syndrome, polycythemia vera and acute myeloid leukemia. Our findings could open new perspectives for MEFV gene mutations in myeloid neoplasms and its association with tumor promotion. Further research is needed to determine the actual role of MEFV gene mutations in these malignancies.
Full-text · Article · Jun 2010 · International journal of hematology
[Show abstract][Hide abstract] ABSTRACT: The aim of the study is to investigate MPV (mean platelet volume) showing platelet reactivity if it is associated with the severity of the critical illness or mortality in ICU patients. Study group (130 patients) was formed from survivor group (68 patients) and non-survivor group (62 patients). Platelet counts and MPV values were compared between two groups in the first five days of hospitalization. MPV correlation was studied with APACHE II score, age, haemoglobin level, duration in the ICU and as an independent risk factor in mortality. Mean age and APACHE scores were significantly higher in non-survivor group compared to survivor group (p<0.05). There was no significant difference between two groups according to MPV and platelet counts in first five days of hospitalization. There was a unique positive correlation between MPV and APACHE score (r: 0.34, p< 0.05). Only age was independent risk factor in mortality. In our study, we found positive correlation between severity of critical illness and MPV. However, there was no relation between MPV and mortality in heterogenic critical patients. Subgroup analysis of patients in ICU might be useful in assessing prediction for mortality.
[Show abstract][Hide abstract] ABSTRACT: Background: Citric acid is widely used in detergent industry. Information about citric acid intoxication is limited. Its ingestion is a life-threatening condition that requires a multidisciplinary approach. Case report: A 44 year-old male patient arrived to the hospital after a suicide attempt by taking 150 ml of dishwasher polisher. Vomiting was induced by his relatives before coming to hospital 4 hours after. Arterial blood-gas and electrolytes evaluation revealed blood-pH and potassium to be 7.15 and 6.13 mg/dL, respectively, and an increased plasma anion gap. Two weeks later, bilateral vocal cord paralysis was diagnosed and tracheostomy was performed. Internal Medicine consultation revealed a initial diagnosis of vasculitis and he was admitted to Internal Medicine Department. There was a diffuse cutaneous petechial rash which was nonpalpable and the largest one was about 2 cm diameter. The pathological punch biopsy sample taken from the lower part of the left leg, where there was diffuse rash, revealed leucocytoclastic vasculitis. One mg/kg prednizolone was started after vasculitis was confirmed pathologically. Cutaneous lesions recovered dramatically. Discussion: Many drugs are indicated to cause leucocytoclastic vasculitis. Antibiotic, especially those of penicilin group and clarithromycin are reported to cause leucocytoclastic vasculitis and henoch-schönlein purpura. Other agents that may cause leucocytoclastic vasculitis development are non-steroid anti-inflammatory drugs, proplytiouracil, paracetamol, simetidin, streptokinase, metformin and acenocumaral. There's no other case in literature as ours who took foreign substances such as citric acid for suicidal purposes rather than treatment purposes. The only case found in literature about citric acid had metabolic acidosis with high level of anion gap, which recovered after ionized calcium infusion; however, its follow up do not report a leucocytoclastic vasculitis similar to our case.