•Slip-slide control method eliminating drawbacks of existing approaches is proposed.•Dynamic analysis of phase shift of traction system including adhesion model is done.•Control method is transformed ...into an adaptive form using the outcomes of analysis.•Comparative test study with the existing successful approaches is conducted.
In railway transport, braking and traction forces mainly depend on the normal force and the adhesion coefficient between the wheel and the rail. Regarding the restrictions on controlling the normal force, maximization of adhesion coefficient seems to be the only way of increasing braking and tractive efforts. Moreover, efficient utilization of adhesion can also reduce operating costs with avoiding early wheel and rail damages and minimizing the trip time. On the other hand, adhesion between the rail and the wheel is a highly dynamic function of many parameters such as environmental conditions, speed and slip ratio. Unfortunately, there is not any sufficiently accurate and reliable way of obtaining these parameters yet. Recently, an event based control scheme has been presented to maximize adhesion utilization without necessitating any of the above-mentioned parameters. This method provides efficient utilization of adhesion and eliminates problems (e.g. reliability, stability, continuous excitation of traction system and slow recuperation detection time) that are faced with the previously developed approaches. In this paper, dynamics of phase shift between the input and the output of the traction system is analyzed and an adaptive form of the recently proposed event based control scheme is constructed in order to further develop the adhesion utilization. Results obtained with the adaptive approach are compared with the conventional form of the control scheme as well as experimentally proven and industrially applied two successful methods for different driving scenarios and wheel-rail conditions.
Purpose
Premature ovarian insufficiency (POI) is a heterogeneous disorder characterized by the cessation of menstrual cycles before the age of 40 years due to the depletion or dysfunction of the ...ovarian follicles. POI is a highly heterogeneous disease in terms of etiology. The aim of this study is to reveal the genetic etiology in POI patients.
Methods
A total of 35 patients (mean age: 27.2 years) from 28 different families diagnosed with POI were included in the study. Karyotype,
FMR1
premutation analysis, single nucleotide polymorphism (SNP) array, and whole-exome sequencing (WES) were conducted to determine the genetic etiology of patients.
Results
A total of 35 patients with POI were first evaluated by karyotype analysis, and chromosomal anomaly was detected in three (8.5%) and
FMR1
premutation was detected in six patients (17%) from two different families. A total of 29 patients without
FMR1
premutation were included in the SNP array analysis, and one patient had a 337-kb deletion in the chromosome 6q26 region including
PARK2
gene, which was thought to be associated with POI. Twenty-nine cases included in SNP array analysis were evaluated simultaneously with WES analysis, and genetic variant was detected in 55.1% (16/29).
Conclusion
In the present study, rare novel variants were identified in genes known to be associated with POI, which contribute to the mutation spectrum. The effects of detected novel genes and variations on different pathways such as gonadal development, meiosis and DNA repair, or metabolism need to be investigated by experimental studies. Molecular etiology allows accurate genetic counseling to the patient and family as well as fertility planning.
The true prevalence of Non-Alcoholic Fatty Liver Disease (NAFLD) is unknown in Turkey due to a lack of population-based studies. The aim of this study was (i) to determine the overall and ...region-specific prevalence of NAFLD in Turkey; (ii) to analyze the factors associated with the prevalence; and (iii) to determine the nationwide change in the prevalence of NAFLD in the last decade.
The 10-year data (2007 to 2016) of 113,239 apparently healthy subjects visiting the check-up clinics of Acibadem Hospitals Group were retrospectively analyzed. A subgroup of patients (n=8120) statistically representing the bigger cohort were selected. The prevalence was analyzed according to ultrasound findings, age, sex, body mass index (BMI), geographical region, and time periods trisected as 2007-2010, 2011-2013 and 2014-2016.
The overall prevalence of NAFLD in Turkey was found to be 48.3%. It was highest among people >50 years of age (65.6%), male sex (64.0%), with a BMI>25 kg/m2 (63.5%) and in Central and Eastern Anatolia regions (57.1% and 55.7%, respectively). The prevalence of NAFLD was 43.5% between 2007-2010, 47.6% between 2011-2013 and 53.1% between 2014-2016 and the rate of increase was 22%. Multivariate analysis showed that male sex, serum alanine aminotransferase (ALT) level, older age, BMI, type-II diabetes mellitus, hypertension and dyslipidemia were independent factors associated with NAFLD.
NAFLD is a highly prevalent disease affecting almost half of the Turkish population (48.3%). We are faced with a dramatic increase in NAFLD prevalence in the past 10 years.
Polycystic kidney disease (PKD) is a life-threatening condition resulting in end-stage renal disease. Two major forms of PKD are defined according to the inheritance pattern. Autosomal dominant PKD ...(ADPKD) is characterized by renal cysts, where nearly half of the patients suffers from renal failure in the 7th decade of life. Autosomal recessive PKD (ARPKD) is a rarer and more severe form presenting in childhood. Whole-exome sequencing (WES) analyses was performed to investigate molecular causes of the disease in the fetus. In this study, we present 2 fetuses prenatally diagnosed with PKD in a consanguineous family. WES analysis of the second fetus revealed a homozygous variant (c.740+1G>A) in DNAJB11 which is related to ADPKD. This study reveals that DNAJB11 biallelic mutations may cause an antenatal severe form of ARPKD and contributes to understanding the DNAJB11-related ADPKD phenotype. The possibility of ARPKD due to biallelic mutations in ADPKD genes should be considered in genetic counseling.
Left internal mammary artery (LIMA) grafts should be used in patients undergoing CABG. No other procedure results in patency equivalent to that of the left anterior descending coronary artery ...(LAD)-LIMA bypass graft. The CHA2DS2-Vasc-HS scoring system can be used to successfully predict CAD severity in stable CAD patients. We aimed to investigate the relationship between LIMA flow and the CHA2DS2-Vasc-HS score.
A total of 684 patients, who underwent CABG surgery, were included in this study. Previous history of bypass surgery, emergency operations, patients with Leriche syndrome and patients with severe obstructive pulmonary and subclavian artery disease were excluded from our study. Patients with a LIMA flow that was suitable for bypass grafting, as determined during the intraoperative evaluation, were included in the low LIMA flow group, and the CHA2DS2-Vasc-HS score was calculated for all patients.
Patients in the low LIMA flow group (Group 1) were older. The CHA2DS2-Vasc-HS score (P < 0.001), presence of mild or moderate COPD (P = 0.022), number of severely diseased vessels (P = 0.036), and BMI (P < 0.001) were independent predictors of poor LIMA flow. The cutoff value of the CHA2DS2-VASc-HS score for the prediction of poor LIMA flow was >5.5, with a sensitivity of 92.9% and specificity of 83.4% (AUC: 0.938, 95% Cl: 0.906 - 0.970, P < 0.001).
A preoperative high CHA2DS2-Vasc-HS score can be used to predict low intraoperative LIMA flow. The CHA2DS2-Vasc-HS score is an easy-to-use and reliable estimation method and can be used as an additional preoperative of LIMA flow in patients undergoing CABG due to severe CAD.
Inflammation is the single greatest precipitator of aging and age-related diseases such as, diabetes, heart disease, alzheimer, arthritis, certain forms of cancer, as well as wrinkled, sagging skin. ...Inflammation, which takes place on a cellular level, is triggered by a wide variety of factors such as the oxidative stress, ingestion of toxins, excess exposure to ultraviolet radiation, hormonal changes and eating a pro-inflammatory diet (Hyperglycemic diet). The aim of this study was to determine whether or not procalcitonin is a specific marker of aging process. Our study revealed a raise in serum procalcitonin in diabetic patients within hyperglycemia. Hyperglycemia associated with increased circulating concentrations of procalcitonin may be a mechanism which explains many of the clinical and biochemical features of aging process. The PCT as aging biomarker can save drug companies huge amounts of money and time. Procalcitonin is a new aging biomarker which can help for discover new drugs to combat aging and DM, as well as new uses for already approved drugs.
Metastasis fingers (acral metastasis) are finding a poor prognosis. Past medical history should be questioned and metastasis from primary tumor should be kept in mind in patients with pain, swelling, ...and hyperemia in fingers. Successful surgical treatment on acral metastasis does not extend the life expectancy; however, it reduces the patient’s pain during his terminal period, saves the functions of the limb, and increases life comfort.
Warburg micro syndrome (WARBM) is a rare, autosomal recessive, neurodevelopmental disorder characterized by microcephaly, cortical dysplasia, corpus callosum hypoplasia, congenital hypotonia leading ...to subsequent spastic quadriplegia, severe developmental delay and hypogenitalism. Ophthalmologic findings that may affect any ocular segment including characteristic, small, atonic pupils. WARBM is known to be caused by biallelic, pathogenic variants in at least five genes although additional genetic loci may exist. The RAB3GAP1 c.748 + 1G>A, p.Asp250CysfsTer24 founder variant has been described in families of Turkish ancestry. We report the clinical and molecular findings in three, unrelated, Turkish families with WARBM. A novel c.974-2A>G variant causing WARBM in three siblings of Turkish descent was found. Functional studies of the novel, c.2606 + 1G>A variant in patients' mRNA revealed skipping of exon 22 which results in a premature stop codon in exon 23. However, the clinical consequences of this variant are blended given that the individual also had a maternally inherited chromosome 3q29 microduplication.
Down syndrome (DS) is the most common chromosomal abnormality. Many studies have assessed the association between maternal gene polymorphisms involved in folate metabolism and the risk of having a DS ...offspring, but data are conflicting. Six common polymorphisms in folate-metabolizing genes were analayzed to determine possible risk factors for a child to be born having DS (DS mothers); these samples were taken from 47 Turkish mothers having DS children (case group) and 49 control mothers. Investigated polymorphisms include methylenetetrahydrofolate reductase (MTHFR) C677T (rs1801133), A1298C (rs1801131), methionine synthase reductase (MTRR) A66G (rs1801394), methylenetetrahydrofolate dehydrogenase (MTHFD1) G1958A (rs2236225), reduced folate carrier (RFC1) A80G (rs1051266), and cystathionine β-synthase (CBS) 844ins68.
The frequency of the MTHFR 677C allele in DS mothers (79.8%) was significantly higher than in controls (66.3%), with a 0.499-fold increased risk of having a DS offspring (p=0.038 and 95% confidence interval CI, 0.259-0.961). Mothers with the MTHFD1 1958A allele had a 1.880-fold increased risk of having a child with DS (p=0.031 and 95% CI, 1.060-3.335). No significant association was found for the other polymorphic variants in this study. Gene-gene interactions were not statistically significant.
Polymorphic variants of the enzymes involved in folate metabolism may play an important role in determining the susceptibility of having a DS offspring. The gene-nutrition, gene-gene interactions and ethnicity are important variables to be considered in future studies.