29 research outputs found

    Heart rate turbulence analysis in female patients with fibromyalgia

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    OBJECTIVE: Fibromyalgia is characterized by diffuse musculoskeletal pain and discomfort. There are several reports regarding autonomic nervous system dysfunction in patients with fibromyalgia. Heart rate turbulence is expressed as ventriculophasic sinus arrhythmia and has been considered to reflect cardiac autonomic activity. Heart rate turbulence has been shown to be an independent and powerful predictor of sudden cardiac death in various cardiac abnormalities. The aim of this study is to determine whether heart rate turbulence is changed in female patients with fibromyalgia compared with healthy controls. METHODS: Thirty-seven female patients (mean age, 40±11 years) with fibromyalgia, and 35 age- and sex-matched healthy female control subjects (mean age, 42±9 years) were included. Twenty-four hours of ambulatory electrocardiography recordings were collected for all subjects, and turbulence onset and turbulence slope values were automatically calculated. RESULTS: The baseline clinical characteristics of the two groups were similar. There were no significant differences in turbulence onset and turbulence slope measures between patients and control subjects (turbulence onset: −1.648±1.568% vs. −1.582±1.436%, p ϝ 0.853; turbulence slope: 12.933±5.693 ms/RR vs. 13.639±2.505 ms/RR, p ϝ 0.508). Although body mass index was negatively correlated with turbulence slope (r ϝ −0.258, p ϝ 0.046), no significant correlation was found between body mass index and turbulence onset (r ϝ 0.228, p ϝ 0.054). CONCLUSION: To the best of our knowledge, this is the first study to evaluate heart rate turbulence in patients with fibromyalgia. It appears that heart rate turbulence parameters reflecting cardiac autonomic activity are not changed in female patients with fibromyalgia

    Volume CXIV, Number 4, November 7, 1996

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    Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population.Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014.Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%.Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespa

    Genome of Wild Olive and the Evolution of Oil Biosynthesis

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    Here we present the genome sequence and annotation of the wild olive tree (Olea europaea var. sylvestris), called oleaster, which is considered an ancestor of cultivated olive trees. More than 50,000 protein-coding genes were predicted, a majority of which could be anchored to 23 pseudochromosomes obtained through a newly constructed genetic map. The oleaster genome contains signatures of two Oleaceae lineage-specific paleopolyploidy events, dated at similar to 28 and similar to 59 Mya. These events contributed to the expansion and neo-functionalization of genes and gene families that play important roles in oil biosynthesis. The functional divergence of oil biosynthesis pathway genes, such as FAD2, SACPD, EAR, and ACPTE, following duplication, has been responsible for the differential accumulation of oleic and linoleic acids produced in olive compared with sesame, a closely related oil crop. Duplicated oleaster FAD2 genes are regulated by an siRNA derived from a transposable element-rich region, leading to suppressed levels of FAD2 gene expression. Additionally, neofunctionalization of members of the SACPD gene family has led to increased expression of SACPD2,3, 5, and 7, consequently resulting in an increased desaturation of steric acid. Taken together, decreased FAD2 expression and increased SACPD expression likely explain the accumulation of exceptionally high levels of oleic acid in olive. The oleaster genome thus provides important insights into the evolution of oil biosynthesis and will be a valuable resource for oil crop genomics

    Is Hydatid Cyst with Musculoskeletal Involvement a Problem that Causes Morbidity? Long-Term Follow-Up and Functional Results

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    Background The aim of study is to evaluate the involvement characteristics of hydatid cysts, which are rarely involved the musculoskeletal system, and the results of recurrence, morbidity, and functional and mental scoring. Methods We retrospectively investigated 18 patients with skeletal hydatid disease. Patients were categorized as those with bone or skeletal muscle involvement. Pre- and post-operative physical component scores (PCS) and mental component scores (MCS) on the functional Short Form 12-item Survey were recorded in these patients.We compared the functional scores, number of recurrences, and lesion volumes between patients with hydatid cyst of bone (HCOB) and those with hydatid cyst of soft tissue (HCOST). Results This study included 11 women and 7 men with bone hydatid cysts. Patients' mean age was 38 years (range 22-70 years). Patients were followed up for a mean of 118.16 months (range 49-230 months). The mean lesion volume was 447.39 cm(3) (36-1260 cm(3)). The 12th and 48th month PCS, the PCS was lower in the HCOB group during both periods (p = 0.04 and p = 0.001, respectively). The 48th month MCS was lower in the HCOB group (p = 0.04). Postoperative residual cysts were detected in five patients who underwent surgical treatment for bone c; all residual lesions were located in the pelvis. Conclusions Bone hydatid cysts are associated with high recurrence rates, and treatment is challenging. In view of the low functional results and high infection and recurrence rates observed in patients over long-term follow-up, particularly in those with pelvic hydatid cysts, we conclude that this disease is associated with significant morbidity

    A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty

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    WOS: 000378169400018PubMed ID: 27087292Partial androgen insensitivity syndrome (PAIS) typically presents with micropenis, perineoscrotal hypospadias, and a bifid scrotum with descending or undescending testes and gynecomastia at puberty. It is an X-linked recessive disorder resulting from mutations in the androgen receptor (AR) gene. However, AR gene mutations are found in less than a third of PAIS cases. A 16-year-old boy was admitted with complaints of gynecomastia and sparse facial hair. Family history revealed male relatives from maternal side with similar clinical phenotype. His external genitalia were phenotypically male with pubic hair Tanner stage IV, penoscrotal hypospadias, and a bifid scrotum with bilateral atrophic testes. He had elevated gonadotropins with a normal testosterone level. Chromosome analysis revealed a 46,XY karyotype. Due to the family history suggesting a disorder of X-linked trait, PAIS was considered and molecular analysis of AR gene was performed. DNA sequence analysis revealed a novel hemizygous mutation p.T576I (c. 1727C>T) in the AR gene. The diagnosis of PAIS is based upon clinical phenotype and laboratory findings and can be confirmed by detection of a defect in the AR gene. An accurate approach including a detailed family history suggesting an X-linked trait is an important clue for a quick diagnosis

    Investigation of the Influence of Selected Soil and Plant Properties from Sakarya, Turkey, on the Bioavailability of Trace Elements by Applying an In Vitro Digestion Model

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    The main aim of this study was an investigation of the influence of selected soil and plant properties on the bioaccessibility of trace elements and hence their potential impacts on human health in urban environments. Two artificial digestion models were used to determine trace element levels passing from soil and plants to man for bioavailability study. Soil and plant samples were collected from various regions of the province of Sakarya, Turkey. Digestive process is started by addition of soil and plant samples to an artificial digestion model based on human physiology. Bioavailability % values are obtained from the ratio of the amount of element passing to human digestion to element content of soil and plants. According to bioavailability % results, element levels passing from soil samples to human digestion were B = Cr = Cu = Fe = Pb = Li < Al < Ni < Co < Ba < Mn < Sr < Cd < Na < Zn < Tl, while element levels passing from plant samples to human digestion were Cu = Fe = Ni = Pb = Tl = Na = Li < Co < Al < Sr < Ba < Mn < Cd < Cr < Zn < B. It was checked whether the results obtained reached harmful levels to human health by examining the literature

    Application of Wet vs. Microwave Digestion for Trace Element Determination in Soil, Vegetable, Nuts, and Grain Samples by ICP-OES

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    In this study, the ICP-OES determination of the trace elements Co, Cr, Cu, Fe, Mn, Ni, Se, and Zn in soil, vegetable, nuts and grain samples from Sakarya, Turkey, was evaluated after wet and microwave digestion. Element concentrations found in the soil samples were 0.6-1.7 mu g g(-1) (Co), 4.2-8.5 mu g g(-1) (Cr), 2.5-8.5 mu g g(-1) (Cu), 46.2-69.9 mu g g(-1) (Mn), 4.7-7.6 mu g g(-1) (Ni), and 5.3-9.4 mu g (Zn); in the vegetable samples 0.2-1.1 mu g (Cu), 27.2-114.6 mu g g(-1) (Fe), 3.8-6.5 mu g g(-1) (Mn), and 2.1-8.9 mu g g(-1) (Zn); and in the dried food samples 0.04-0.94 mu g g(-1) (Co), 0.24-5.64 mu g g(-1) (Cr), 2.55-15.92 mu g g(-1) (Cu), 4.82-37.55 mu g g(-1) (Fe), 1.12-30.17 mu g g(-1) (Mn), 0.43-2.27 mu g g(-1) (Ni), 0.03-0.94 mu g g(-1), (Se) and 2.93-20.91 mu g (Zn). The accuracy of the method was verified using certified reference materials NIST CRM 7001 Light Sandy Soil and NIST SRM 1515 Apple Leaves digested by wet ashing and microwave digestion. The microwave digestion method offered best results and was successfully carried out for all samples. The results agreed well with the literature values

    Loop Antenna Driven Double Microwave Resonator-Based Sensors Incorporating PDMS Microchannels on Glass Substrates

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    Microwave resonator-based sensors offer low-cost, contactless, label-free sensing solutions in a variety of applications. Sensing is done by the observation of the shifts in resonant frequency of the sensor structure, which depends on resonator geometry, material and physical properties of the environment. It is observed that the readings can be significantly affected by changes in secondary physical parameters or sample localization on resonator. A double microwave resonator sensing system incorporating microchannels on glass substrates are proposed to address these challenges. PDMS microchannels bonded on glass substrates are mounted on split ring resonators fabricated via low-cost processes. Experiments are performed with glucose solutions of 1.4 mg/mL–3.0 mg/mL concentration range. Results confirm that the use of double resonators increase rejection of background noise, whereas microchannel use increases measurement stability. Overall measurement sensitivity is shown to be 0.92 MHz/(mg/mL). Further improvements are aimed with the bonding of microchannels directly on resonators fabricated on glass substrates

    Impact of the unplanned excision on the oncological outcomes of patients with soft tissue sarcomas: a single-center retrospective review of 490 patients

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    Objective: This study aimed to (1) compare the oncological results of patients who underwent re-excision after unplanned excision with those who underwent planned excision and (2) analyze the impact of local recurrences on oncological outcomes. Methods: Patients with soft tissue sarcoma who had been treated in our center between 2000 and 2018 were retrospectively reviewed. Patients were divided into two groups: Group PE (Planned excision; n=345) and group UE (Unplanned excision; n=145). Two groups were compared in terms of local recurrence-free survival (LRFS), metastasis-free survival (MFS), and overall survival (OS). Local recurrences effects over MFS and OS were also analyzed. Results: There were 26 (17.9%) local recurrences in the UE group and 30 (8.7%) local recurrences in the PE group (P=0.005). There was no difference in MFS and OS between study groups (P=0.278 and P=0.848, respectively). Five years MFS rates of UE and PE groups were 76.4% and 73.6%, and five-year OS rates of UE and PE groups were 70.3% and 73.9%, respectively (P=0.417, P=0.656). Patients with local recurrence had a 1.96 times higher risk of metastasis than patients without local recurrence (P=0.008). Patients with local recurrence had 1.65 times higher risk of mortality than patients without local recurrence (P=0.047). Conclusion: Although local recurrence is much more common in the UE group, this outcome does not seem to affect MFS or OS. These results indicate that similar outcomes can be achieved if UE patients are referred and appropriately treated with wide re-resections
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