212 research outputs found

    Relationship between subclinical hypothyroidism and serum homocysteine concentration in premenopausal women

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    Objective: In our study we aimed to examine serum homocysteinelevels of patients without thyroid dysfunctionswho have high serum anti thyroid peroxidase (anti-TPO)levels and patients with subclinical hypothyroidism whohave high serum thyroid stimulating hormone (TSH) andanti-TPO levels.Methods: One hundred and seven premenopause femaleoutpatients who referred to endocrine clinic of our hospitalwere included in our study. We generated 3 groups. Firstgroup (Control) consists of 53 (50%) patients between theages of 30-40 years. Second group (Euthyroid) consistsof 31 (29%) patients between the ages of 26-49. Thirdgroup (Subclinical Hypothyroidism) consists of 23 (21%)patients between the ages of 33-53 years. Serum totalcholesterol, triglycerides, high density lipoprotein (HDL)levels were measured by Olympus 2700 autoanalyzer.Serum TSH, free T4, anti-TPO and homocysteine levelswere measured by Siemens Immulite 2000 autoanalyzer.Results: In our study, total cholesterol, triglycerides, lowdensity lipoprotein (LDL) and very low density lipoprotein(VLDL) levels were not statistically significantly differentamong the groups. Although serum homocysteine levelsof the third group were higher than the other groups it wasnot statistically significantly different among the groups.Conclusion: Serum homocysteine and lipid levels of patientswith euthyroidism and subclinical hypothyroidismwho have positive anti-TPO levels may be inadequate inassessing the risk of cardiovascular diseases. J Clin ExpInvest 2013; 4 (3): 293-297Key words: Hypothyroidsm, homocysteine, premenopaus

    SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

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    SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated families who present with atypical muscular dystrophy and neurological defects. Nine hypomorphic SNUPN biallelic variants, predominantly clustered in the last coding exon, are ascertained to segregate with the disease. We demonstrate that mutant SPN1 failed to oligomerize leading to cytoplasmic aggregation in patients’ primary fibroblasts and CRISPR/Cas9-mediated mutant cell lines. Additionally, mutant nuclei exhibit defective spliceosomal maturation and breakdown of Cajal bodies. Transcriptome analyses reveal splicing and mRNA expression dysregulation, particularly in sarcolemmal components, causing disruption of cytoskeletal organization in mutant cells and patient muscle tissues. Our findings establish SNUPN deficiency as the genetic etiology of a previously unrecognized subtype of muscular dystrophy and provide robust evidence of the role of SPN1 for muscle homeostasis

    Decreasing trends in cardiovascular mortality in Turkey between 1988 and 2008.

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    BACKGROUND: Cardiovascular disease (CVD) mortality increased in developed countries until the 1970s then started to decline. Turkey is about to complete its demographic transition, which may also influence mortality trends. This study evaluated trends in coronary heart disease (CHD) and stroke mortality between 1988 and 2008. METHODS: The number of deaths by cause (ICD-8), age and sex were obtained from the Turkish Statistical Institute (TurkStat) annually between 1988 and 2008. Population statistics were based on census data (1990 and 2000) and Turkstat projections. European population standardised mortality rates for CHD and stroke were calculated for men and women over 35 years old. Joinpoint Regression was used to identify the points at which a statistically significant (p < 0.05) change of the trend occurred. RESULTS: The CHD mortality rate increased by 2.9% in men and 2.0% in women annually from 1988 to 1994, then started to decline. The annual rate of decline for men was 1.7% between 1994-2008, whilst in women it was 2.8% between 1994-2000 and 6.7% between 2005-2008 (p < 0.05 for all periods).Stroke mortality declined between 1990-1994 (annual fall of 3.8% in both sexes), followed by a slight increase between 1994-2004 (0.6% in men, 1.1% in women), then a further decline until 2008 (annual reduction of 4.4% in men, 7.9% in women) (p < 0.05 for all periods). CONCLUSIONS: A decrease in CVD mortality was observed from 1995 onwards in Turkey. The causes need to be explored in detail to inform future policy priorities in noncommunicable disease control

    Diverse aging rates in ectothermic tetrapods provide insights for the evolution of aging and longevity

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    Comparative studies of mortality in the wild are necessary to understand the evolution of aging; yet, ectothermic tetrapods are underrepresented in this comparative landscape, despite their suitability for testing evolutionary hypotheses. We present a study of aging rates and longevity across wild tetrapod ectotherms, using data from 107 populations (77 species) of nonavian reptiles and amphibians. We test hypotheses of how thermoregulatory mode, environmental temperature, protective phenotypes, and pace of life history contribute to demographic aging. Controlling for phylogeny and body size, ectotherms display a higher diversity of aging rates compared with endotherms and include phylogenetically widespread evidence of negligible aging. Protective phenotypes and life-history strategies further explain macroevolutionary patterns of aging. Analyzing ectothermic tetrapods in a comparative context enhances our understanding of the evolution of aging.Animal science

    Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

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    Funder: European Society of Intensive Care Medicine; doi: http://dx.doi.org/10.13039/501100013347Funder: Flemish Society for Critical Care NursesAbstract: Purpose: Intensive care unit (ICU) patients are particularly susceptible to developing pressure injuries. Epidemiologic data is however unavailable. We aimed to provide an international picture of the extent of pressure injuries and factors associated with ICU-acquired pressure injuries in adult ICU patients. Methods: International 1-day point-prevalence study; follow-up for outcome assessment until hospital discharge (maximum 12 weeks). Factors associated with ICU-acquired pressure injury and hospital mortality were assessed by generalised linear mixed-effects regression analysis. Results: Data from 13,254 patients in 1117 ICUs (90 countries) revealed 6747 pressure injuries; 3997 (59.2%) were ICU-acquired. Overall prevalence was 26.6% (95% confidence interval [CI] 25.9–27.3). ICU-acquired prevalence was 16.2% (95% CI 15.6–16.8). Sacrum (37%) and heels (19.5%) were most affected. Factors independently associated with ICU-acquired pressure injuries were older age, male sex, being underweight, emergency surgery, higher Simplified Acute Physiology Score II, Braden score 3 days, comorbidities (chronic obstructive pulmonary disease, immunodeficiency), organ support (renal replacement, mechanical ventilation on ICU admission), and being in a low or lower-middle income-economy. Gradually increasing associations with mortality were identified for increasing severity of pressure injury: stage I (odds ratio [OR] 1.5; 95% CI 1.2–1.8), stage II (OR 1.6; 95% CI 1.4–1.9), and stage III or worse (OR 2.8; 95% CI 2.3–3.3). Conclusion: Pressure injuries are common in adult ICU patients. ICU-acquired pressure injuries are associated with mainly intrinsic factors and mortality. Optimal care standards, increased awareness, appropriate resource allocation, and further research into optimal prevention are pivotal to tackle this important patient safety threat
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