Genetic Risk Factors in Chronic Obstructive Lung Disease (COPD)

COPD is a leading cause of morbidity and mortality among the adult population. The major risk factor of COPD is, undoubtedly, cigarette smoking. In a significant proportion of smokers clinically significant airflow obstruction develops. Exogenous factors outside the meeting, increasing susceptibility to disease and genetic factors in the development of the disease is thought to play an important role.Apart from the contribution by the well-recognized α-1 antitrypsin deficiency, the genetic basis of COPD is poorly understood. However, many genes are thought to be associated with COPD. The most important ones are α-1-antitrypsin (AAT), α-1-antichymotrypsin (AACT), matrix metalloproteinase (MMP), microsomal epoxide hydrolase (EPHX1), glutathione S-transferase (GST), tumor necrosis factor-α (TNF ) and transforming growth factor beta (TGFβ). [Archives Medical Review Journal 2010; 19(3.000): 168-179

Detection of CAG trinucleotide repeat numbers with fragment analysis in patients diagnosed with Huntington's disease and in their families

WOS: 000480626400029Purpose: Huntington's Disease (HD) is an autosomal dominant disorder affecting nervous system. CAG trinucleotide repeat (TNR) increase in Huntingtin gene causes the disease. In normal individuals, 10-35 TNRs are found whereas in HD this number exceeds 36-37. This study aimed to investigate TNR numbers in individuals with HD diagnosed family and to provide genetic counselling for individuals with abnormal alleles. Materials and Methods: Subjects consist of family members of a male who died at age of 60 due to HD. Randomly selected 57 healthy individuals are also analysed for control. TNR numbers were determined by fragment analysis. Results: TNR numbers of family members were determined as 17, 21, 23, 25, 33, 36 and 39. TNR numbers of randomly selected healthy people were found below 26. Individuals with 33 and 36 TNRs were considered as risk groups. Individuals with 39 TNRs were considered as HD patients. Conclusion: Since some subjects had 39 TNRs, it was emphasized that these people should be under physician control. Prenatal diagnosis is recommended to those who plan to have children. In addition, subjects with 33 and 36 CAG trinucleotide repeats are advised to inform new generations about HD and that they may be affected in future

Changes in Lipid Profile and Body Mass Index in Patients with Subclinical Hypothyroidism: Evaluation of L-Thyroxine Treatment

Introduction: Subclinical hypothyroidism is defined as a mild elevation in serum thyroid stimulating hormone (TSH) level, while serum free T4 (FT4) and free T3 (FT3) levels are within the reference range. The main problem with these patients is whether they should receive therapy or not. In many studies, positive effects of levothyroxine treatment on hypothyroidism symptoms, serum lipid levels and cardiac functions are shown. In this prospective clinical study, we aimed to evaluate the metabolic changes in newly diagnosed subclinical hypothyroidism patients who were administered thyroxine. Methods: Sixty-three newly diagnosed patients with subclinical hypothyroidism were included in the study. Randomly chosen 36 patients receiving therapy constituted the study group, while the remaining 27 patients formed the control group and were followed without any treatment. The patients were questioned for symptoms and examined thoroughly at the beginning of the study and at the end of the third month. Thyroid function tests, lipid parameters and body mass index (BMI) were determined at both the beginning and the end of the study. Results: There were 32 (88.8%) female and 4 (11.2%) male patients in the study group; mean values of age and BMI were 44.66±13.34 years and 29.96±5.99 kg/m², respectively. The control group consisted of 23 (85.2%) female and 4 (14.8%) male patients; their mean values of age and BMI were 42.51±11.66 years and 30.68±5.61 kg/m², respectively. Mean TSH levels and mean fT3 levels were significantly decreased in the third month with respect to the beginning in patients receiving treatment when compared to the control group. In the beginning, the mean levels of serum LDL cholesterol were 127.55±44.69 mg/dl and 112.37±30.43 mg/dl in the study and control groups, respectively. Mean LDL cholesterol level showed a significant increase in the control group at three-month follow-up visit (p=0.041). Discussion: In this study, we found that the symptoms of clinical hypothyroidism mostly existed in patients with subclinical hypothyroidism, and clinical and metabolic parameters improved with levothyroxine therapy. (The Me di cal Bul le tin of Ha se ki 2011; 49: 131-6

Protective effect of dexpanthenol against nephrotoxic effect of amikacin: An experimental study

Background: Amikacin has the largest spectrum among aminoglycosides, its nephrotoxic effect limits its utilization. Our purpose in this study is to review the protective effect of dexpanthenol against the nephrotoxic effect of amikacin, accompanied with histopathological and biochemical parameters

GAS6 intron 8 c.834+7G > A gene polymorphism in diabetic nephropathy

Background - Aim: In animal experiments, growth arrest-specific 6 (Gas6) protein plays a key role in the development of mesangial cell and glomerular hypertrophy in the early phase of diabetic nephropathy, and diabetic nephropathy is prevented by warfarin-induced inhibition of GAS6 protein. It was shown that GAS6 intron 8 c.834+7G>A polymorphism is protective against type 2 diabetes mellitus, and AA genotype is associated with higher blood levels of GAS6 protein. Our aim is to investigate whether this polymorphism is a risk factor for diabetic nephropathy in type 2 diabetes mellitus. Method: Eighty-seven patients with diabetic nephropathy were compared with 66 non-diabetic controls in terms of GAS6 intron 8 c.834+7G>A polymorphism. Patients with history of stroke, ischemic heart disease were excluded. Each patient was examined by the ophthalmologist to determine diabetic retinopathy. Results: Frequency of GG, GA and AA genotypes are similar in diabetic nephropathy and control groups according to GAS6 intron 8 c.834+7G>A polymorphism (p = 0.837). Rate of diabetic retinopathy was 54.02%. In the subgroup analysis, GA genotype was significantly more frequent than GG genotype in patients with diabetic retinopathy when compared to without diabetic retinopathy (p = 0.010). Conclusion: In our study, GAS6 intron 8 c.834+7G>A polymorphism was not associated with diabetic nephropathy in type 2 diabetes mellitus. However, heterozygous state of this polymorphism may be a risk factor for diabetic retinopathy in patients with diabetic nephropathy

Turkish registry for diagnosis and treatment of acute heart failure: TAKTIK study

WOS: 000392634300003PubMed ID: 28045409Objective: The goal of this study was to develop a national database of patients hospitalized in Turkey with acute heart failure (AHF) using evaluations of diagnostic and therapeutic approaches. Methods: Patient data were collected using an Internet-based survey. A total of 588 patients were enrolled from 36 participating medical centers across the country. Results: Mean age was 62 +/- 13 years and 38% of the patients were female. Ratio of de novo AHF to study cohort was 24%. Coronary heart disease and hypertension were found in 61% and 53% of the patients, respectively. Valvular heart disease was the underlying cause in 46% of heart failure patients. The most frequent factor associated with decompensation was noncompliance with treatment, observed in 34% of patients. Systolic blood pressure was 125 +/- 28 mmHg and heart rate was 93 +/- 22 beats/minute in the cohort. The most common findings on physical examination were inspiratory fine crackles (84%), peripheral edema (64%), and cold extremities in 34%. Mean ejection fraction (EF) measured at admission was 33 +/- 13%. Preserved EF (>=%40) was present in 20% of patients. On admission, 60%, 46%, and 40% of patients were using angiotens-in-converting enzyme inhibitor/angiotensin receptor blocker, beta-blocker, or aldosterone antagonist, respectively. In-hospital events were reported as 3.4% death, 1.6% stroke and 2% myocardial infarction. Conclusion: Compared to previous data collected around the world, AHF patients in Turkey were younger, had more frequently valvular heart disease as the underlying cause, and were more noncompliant with medical treatment, but overall mortality was lower. Drugs shown to reduce mortality, and which also form the basis of guideline-directed medical therapy, are still used inadequately.Turkish Society of CardiologyTurkish Society of Cardiolog