bluuebunny/crossref_metadata_2025_split huggingface dataset:
Non-invasive prenatal testing for fetal aneuploidy by massively parallel DNA sequencing of maternal plasma: the future has arrived today/Nicht-invasiver Pränatal-Test auf fetale Aneuploidie mittels massiv-paralleler DNA-Sequenzanalyse im mütterlichen Plasma: in der Zukunft angekommen
Authors: Swanson Amy , Coffeen Christin , Sehnert Amy J. 
Published: February 2015

Abstract
After decades of research, non-invasive prenatal testing (NIPT) using maternal blood to determine fetal chromosome status has found its way from the research laboratory into clinical practice, triggering a long-awaited paradigm shift in prenatal care. A variety of methods using sequencing of maternal cell-free DNA (cfDNA) have now been studied, primarily demonstrating their ability to detect the most common fetal aneuploidy, trisomy 21 (T21). The focus of this article is on massively parallel sequencing (MPS) with optimized sequence tag mapping and chromosome quantification, which accurately detects T21 as well as multiple other aneuploidies across the genome. The power of this technique resides in its high precision and reduction of variation within and between sequencing runs. Using MPS, classification of aneuploidy status for a given sample can be reliably assigned from the genetic information alone without the need to factor in other maternal pre-test risk or other clinical variables. Performance of this method has been prospectively demonstrated in a rigorous, blinded, multi-center study in the United States. The findings suggest that MPS can be incorporated into existing prenatal screening algorithms to reduce unnecessary invasive procedures. This technology and key considerations for clinical implementation are discussed.
Stand der Implementierung der OECD-Leitlinien für Qualitätssicherung im molekulargenetischen Labor im deutschsprachigen Raum/The status of implementation of the OECD guidelines for quality assurance in molecular genetic testing in the German speaking area
Authors: Lechner Silvia , Hagleitner Magdalena , Staudinger Bettina 
Published: February 2015

Zusammenfassung

Hintergrund: Die Frage nach der in der Literatur geforderten Qualitätsarbeit in molekulargenetischen Laboratorien ist Gegenstand dieser Arbeit. Untersucht werden Art und Umfang des praktischen Qualitätsmanagements.

Methode: Auf Basis der OECD-Guidelines for Quality Assurance in Molecular Genetic Testing 2007 wurde ein Fragebogen mit 40 Fragen entwickelt. Daten von 144 molekulargenetischen Labors (MGTL) wurden durch eine postalische Fragebogenerhebung im September 2009 gesammelt und mit SPSS 15.0 und EXCEL ausgewertet.

Ergebnisse: Die 144 möglichen, kontaktierten MGTL im deutschsprachigen Raum setzten sich zusammen aus 122 MGTL in Deutschland, 13 MGTL in Österreich und 9 MGTL in der Schweiz. Es nahmen 48 an der Fragebogenerhebung teil (Rücklaufquote von 33,3%), wovon 9 MGTL aufgrund von Umstrukturierungen im Labor den Fragebogen nicht ausfüllten. Alle gehören dem Berufsverband Deutscher Humangenetiker (BVDH) an (n=144, insgesamt Rücklaufquote 33,3%). Die 39 Studienteilnehmer erklärten, dass sie Tests für 4–400 verschiedene Krankheiten anbieten. 64,1% der Befragten gaben an, dass sie bereits über ein Qualitätsmanagementsystem verfügen und 35,9% der Teilnehmer waren in der Planungsphase eines Qualitätsmanagementsystems. 82,21% gaben an, dass sie in „The European Molecular Genetics Quality Network“ (EMQN) teilnehmen.

Schlussfolgerung: Die Studie hat gezeigt, dass vielfältige Ansätze der Qualitätsarbeit existieren. Es herrscht eine Konzentration auf die Ergebnisqualität vor, die Integration der OECD-Guidelines kann weitgehend nachgewiesen werden. Die rasche Entwicklung von Untersuchungsmethoden stellt für die praktische Qualitätsarbeit eine gegenwärtige und zukünftige Herausforderung dar.
Cystatin C – an endogenous GFR marker and prognosis factor1)
Authors: Woitas Rainer 
Published: February 2015

Abstract
Glomerular filtration rate (GFR) is the most sensitive parameter of excretory kidney function. GFR reduction is usually detectable prior to the onset of clinical symptoms. Exact knowledge of GFR is helpful for pharmacotherapy and the use of contrast media. Everyday routine usually applies creatinine and creatinine-based equations to estimate GFR. However, because these equations were derived from patient cohorts with advanced renal insufficiency, they underestimate true GFR, if GFR is higher than 60 mL/min/1.73 m2. Moreover, serum creatinine concentrations are influenced by muscle mass, dietary protein intake, sex, age, and drugs thus limiting the precision of creatinine-based methods. An alternative endogenous parameter of GFR is cystatin C, which is a 13.3 kDa large cysteine proteinase inhibitor produced at a constant rate in virtually all nucleated cells. It is freely filtered by the glomerular membrane, reabsorbed in the proximal tubule, and catabolized to more than 99%. Its serum concentrations are virtually independent of body composition, sex, and age or inflammation. In routine diagnostics one single reference interval serves for males and females irrespective of ethnicity. Furthermore, serum concentrations of cystatin C are stable from the second year of life until the end of the fifth decade. Even subtle reductions of renal function in the creatinine-blind range can be diagnosed safely and are reproducible. In comparison to creatinine, cystatin C-based clearance formula allow for an easy estimation of GFR which is robust against diverse sources of error. Cystatin C also enables prognostic statements. This applies for acute renal failure due to shock, sepsis or surgical interventions, as well as for contrast media. Additionally, chronic renal failure and cardiovascular events may be predicted. In summary cystatin C is a reliable marker for GFR estimation and its diagnostic accuracy is less influenced than creatinine. Furthermore, it provides prognostic information on patients regarding all-cause mortality and cardiovascular risk, suggesting cystatin C as a potential screening parameter.
Hospital care in transition – Opportunities and risks in laboratory medicine1)
Authors: Neubauer Günter 
Published: February 2015

AbstractOwing to the huge demographic challenge in terms of a considerable restructuring of the employed workforce, hospital care has changed and thus laboratory medicine underlies increased rationalization pressure. Management solutions include internal process optimization, procurement management, service outsourcing and development of regional networks. The laboratory medicine must face these challenges in order to remain competitive.
Carbon dioxide uptake in nitrite-sodalite: reaction kinetics and template ordering of the carbonate-nosean formation
Authors: Šehović Malik , Robben Lars , Gesing Thorsten M. 
Published: February 2015

Abstract
We report on the phase transformation and the reaction kinetics of aluminosilicate nitrite-sodalite |Na8(NO2)2|[AlSiO4]6 crystallizing in space group

P

4
¯

3
n

$P\bar 43n$

into carbonate-nosean |Na8(CO3)□|[AlSiO4]6 described in space group P23. Investigations were carried out in carbon dioxide atmosphere by in situ high-temperature X-ray diffraction measurements. The collected diffraction patterns were examined using the autocorrelation method and Rietveld and structure independent refinements. For this reaction an activation energy of E

A

=7.788(6) kJ/mol was observed. Whereas the framework remains almost unchanged during the phase transformation first a high number of newly formed template-domains are observed indicating only a short range order of CO3
2– occupied and empty cages. This can be deduced from the obtained average crystallite size ratios taken from structure independent Pawley fits of the reflections allowed in

P

4
¯

3
n

$P\bar 43n$

and constrained single-peak refinements of the remaining ones additionally allowed in P23. This initially high number of template domains is reduced with increasing reaction time developing faster at higher temperatures. An average formation of 2.2(1) ordered domains within one crystallite could be evaluated for the longest reaction time.
Study of Preferred Profile of Accelerated Stability Test Method for Quartz Flexible Accelerometer
Authors: Xu Dan , Chen Yunxia , Kang Rui 
Published: February 2015

Abstract
Manufactured quartz flexible accelerometers have problems of poor long-term stability, which can be attributed to drifting of key parameters (e.g., zero bias, scale factor) that is influenced by a combination of time and external environmental stress inducing factors that include temperature fluctuation, thermal cycling, and dynamic mechanical loading. This paper focused on the experimental design for such a device. Accelerated stability experiments are performed and are divided into three kinds: thermal cycling test, test of concurrent application of thermal cycling and vibrational loading, and test of thermal cycling with subsequent vibrational loading. Experimental data are analyzed using the mobile linear regression coefficient test and the mobile standard deviation, after which the steady-state cycle number is determined. Based on the above analysis, the rapid effectiveness of the profiles is evaluated. Finally, the preferred profile is determined by thoroughly considering the equipment capacity and engineering operational convenience. It is illustrated that the vibrational loading has a significant effect on accelerated stability for various parameters. Overall, the research on the accelerated stability test enables an accelerometer to quickly attain a steady-state and also provides initial technical support to improve the robustness of the accelerometer's long-term stability.
First record of Lopescladius Oliveira, 1967 (Chironomidae: Orthocladiinae) in the Piranhas-Açu River basin, Brazil, with ecological notes on its habitat use
Authors: Farias Rafaela Lima de , Alencar Thuanny Fernanda Braga , Medeiros Elvio S.F. 
Published: January 2015

The present study describes a new site of occurrence for the genus Lopescladius in Brazil and reports the first record for the Piranhas-Açu River basin, in the state of Rio Grande do Norte, northeastern Brazil. This new occurrence expands the distribution of the genus and adds to the knowledge of the chironomid fauna. The presence of this genus in an intermittent stream highlights the importance of future research on this type of aquatic system as well as ecological aspects related to Lopescladius.
Tantilla alticola (Boulenger, 1903) (Squamata: Colubridae): filling a geographical distribution gap in western Colombia
Authors: Vanega-Guerrero Jhonattan , Batista Abel , Medina Iliana , Vargas-Salinas Fernando 
Published: January 2015

Based on a single specimen collected in La Delfina, municipality of Dagua, department of Valle del Cauca, we fills a record gap of 255 km in the distribution of the snake Tantilla alticola in western Colombia.
New record and occurrence map of Tityus serrulatus Lutz &amp; Mello, 1922 (Scorpiones, Buthidae) in the state of Rio Grande do Sul, southern Brazil
Authors: Mario da Rosa Conrado , Abegg Arthur Diesel , Borges Leandro Malta , Bitencourt Gabriela S. S , Di Mare Rocco Alfredo 
Published: January 2015

The Brazilian scorpion Tityus serrulatus is recorded for the first time in the central region of Rio Grande do Sul, thus filling a gap of 567 km in its distribution. A specimen of the scorpion was collected in the urban area of the municipality of Santa Maria (29°43′51.31″ S, 053°48′5.74″ W) on 31 June 2014. A map was generated with the points of occurrence of the species in the state.
Frequency of CCR5Δ32 allele in healthy Bosniak population.
Authors: Adler Grażyna , Valjevac Amina , Skonieczna-Żydecka Karolina , Mackic-Djurovic Mirela , Parczewski Miłosz , Urbańska Anna , Salkic Nermin Nusret 
Published: January 2015

Recent evidence has demonstrated the role of CCR5Δ32 in a variety of human diseases: from infectious and inflammatory diseases to cancer. Several studies have confirmed that genetic variants in chemokine receptor CCR5 gene are correlated with susceptibility and resistance to HIV infection. A 32-nucleotide deletion within the CCR5 reading frame is associated with decreased susceptibility to HIV acquisition and a slower progression to AIDS. Mean frequency of CCR5Δ32 allele in Europe is approximately 10%. The highest allele frequency is observed among Nordic populations (about 12%) and lower in the regions of Southeast Mediterranean (about 5%). Although the frequency of CCR5Δ32 was determined in numerous European populations, there is a lack of studies on this variant in the Bosnia and Hercegovina population. Therefore, the aim of our study was to assess the frequency of CCR5Δ32 allele in the cohort of Bosniaks and compare the results with European reports. CCR5Δ32 was detected by sequence-specific PCR in a sample of 100 healthy subjects from Bosnia and Herzegovina (DNA collected 2011-2013). Mean age of the cohort being 58.8 (±10.7) years, with 82% of women. We identified 17 heterozygotes and one mutant homozygote in study group, with mean ∆32 allele frequency of 9.5%. CCR5∆32 allele frequency among Bosniaks is comparable to that found in Caucasian populations and follows the pattern of the north-southern gradient observed for Europe. Further studies on larger cohorts with adequate female-to-male ratio are necessary.
Beta lactam antibiotics residues in cow's milk: comparison of efficacy of three screening tests used in Bosnia and Herzegovina
Authors: Fejzic Nihad , Begagic Muris , Šerić-Haračić Sabina , Smajlovic Muhamed 
Published: January 2015

Beta lactam antibiotics are widely used in therapy of cattle, particularly for the treatment of mastitis. Over 95% of residue testing in dairies in Bosnia and Herzegovina is for Beta lactams. The aim of this paper is to compare the efficacy of three most common screening tests for Beta lactam residues in cow’s milk in our country. The tests used in the study are SNAP β Lactam test (Idexx), Rosa Charm β Lactam test and Inhibition MRL test. Study samples included: standardized concentrations of penicillin solution (0, 2, 3, 4, 5 and 6 ppb). In addition we tested milk samples from three equal size study groups (not receiving any antibiotic therapy, treated with Beta lactams for mastitis and treated with Beta lactams for diseases other than mastitis). Sensitivity and specificity were determined for each test, using standard penicillin concentrations with threshold value set at concentration of 4 ppb (Maximum residue level – MLR). Additionally we determined proportions of presumably false negative and false positive results for each test using results of filed samples testing. Agreement of test results for each test pair was assessed through Kappa coefficients interpreted by Landis-Koch scale. Detection level of all tests was shown to be well below MRL. This alongside with effects of natural inhibitors in milk contributed to finding of positive results in untreated and treated animals after the withholding period. Screening tests for beta lactam residues are important tools for ensuring that milk for human consumption is free from antibiotics residues.
Left ventricular mechanics in Behcet’s disease: A speckle tracking echocardiographic study
Authors: Demirelli Selami , Degirmenci Hüsnü , Bilen Handan , Ermis Emrah , Duman Hakan , Arisoy Arif , Bakirci Eftal Murat , Ipek Emrah , Askin Lutfu 
Published: January 2015

Although cardiac involvement is rarely seen in Behcet’s disease (BD), it is essential to detect subclinical left ventricular (LV) dysfunction for prognostic purposes. Herein we aimed to show the role of two dimensional (2D) speckle tracking echocardiography (STE) in determination of subclinical LV dysfunction in patients with BD. 30 patients diagnosed as BD due to International Study Group Behcet’s diagnostic criteria and 25 control subjects underwent Doppler echocardiography including pulsed tissue Doppler of the mitral annulus and speckle-tracking echocardiography. LV peak longitudinal strain and strain rate (SR) was calculated in four-chamber (4C), apical long-axis (LAX), and two-chamber (2C) views, and values of the three views were averaged LV global longitudinal strain (LV-GLS) and SR. LV torsion was determined as the net difference in the mean rotation between the apical and basal levels. There was not any significant difference in age and gender between groups. Patients with BD had significantly lower LV longitudinal strain and Sr measurements than the control group. Although LV basal rotation (LVR) basal values were similar in both groups, LVR-apical and LV torsion (LVTR) values were significantly higher in patient group. LVR-apical and LV-GLS were found to have a good positive corelation (r:0.44, p<0.001) (r: -0.56, r: -0.65,respectively. p<0.001). There was a weak positive correlation between LVTR and LV-GLS (r: 0.29, p<0.05). We demonstrated that combined assessement of LV-GLS, LV-GLSR, LVTR and LVR-apical values detected by STE can be useful in determination of subclinical left ventricular dysfunction in BD.
C - reactive protein and chitinase 3-like protein 1 as biomarkers of spatial redistribution of retinal blood vessels on digital retinal photography in patients with diabetic retinopathy
Authors: Cekic Sonja Predrag , Cvetkovic Tatjana , Jovanovic Ivan , Jovanovic Predrag , Pesic Milica , Stankovic Babic Gordana , Milenkovic Svetislav , Risimic Dijana 
Published: January 2015

The aim of the study was to investegate the correlation between the levels of CRP and YKL-40 in blood samples with morphometric parameters of retinal blood vessels in patients with diabetic retinopathy.
Blood laboratory examination of 90 patients included the measurement of glycemia, HbA1C, total cholesterol, LDL-C, HDL-C, triglycerides and CRP. Levels of YKL-40 were detected and measured in serum by ELISA (Micro VueYKL-40 EIA Kit, Quidel Corporation, San Diego, USA).
Morphmetric analysis was performed with ImageJ software (http://rsbweb.nih.gov/ij/) for digital retinal photography. We measured the number, diameter of retinal blood vessels in five different parts concentric to the optic disc. Differences between the morphometric parameters and the blood test analysis results were evaluated using the Student’s t – test. One Way ANOVA was used to establish the significance of differences.
CRP and YKL-40 levels were moderately higher in the group of patients with severe diabetic retinopathy. Levels of YKL-40 correlated positively with diameter and negatively with number of retinal blood vessels. The average number of the blood vessels per retinal zone was significantly higher in the group of patients with mild non-proliferative diabetic retinopathy than in the group with severe form in the optic disc and all five retinal zones. The average outer diameter of the evaluated retinal zones and optic disc vessels was significantly higher in the group with severe compared to the group with mild diabetic retinopathy.
Morphological analysis of the retinal vessels on digital fundus photography and correlation with YKL-40 may be valuable for the follow-up of diabetic retinopathy.
Dynamic Magnetic Resonance Imaging of Endoscopic Third Ventriculostomy Patency With Differently Acquired Fast Imaging With Steady-State Precission Sequences
Authors: Lucic Milos A. , Koprivsek Katarina , Kozic Dusko , Spero Martina , Spirovski Milena , Lucic Silvija 
Published: January 2015

The aim of the study was to determine the possibilities of two differently acquired two-dimensional fast imaging with steady-state precession (FISP 2D) magnetic resonance sequences in estimation of the third ventricle floor fenestration patency after endoscopic third ventriculostomy (ETV) in the subjects with aqueductal stenosis/obstruction.
Fifty eight subjects (37 males, 21 females, mean age 27 years) with previously successfully performed ETV underwent brain MRI on 1.5T MR imager 3-6 months after the procedure. Two different FISP 2D sequences (one included in the standard vendor provided software package, and the other, experimentally developed by our team) were performed respectively at two fixed slice positions: midsagittal and perpendicular to the ETV fenestration, and displayed in a closed-loop cinematographic format in order to estimate the patency. The ventricular volume reduction has been observed as well.
Cerebrospinal fluid (CSF) flow through the ETV fenestration was observed in midsagittal plane with both FISP 2D sequences in 93.11% subjects, while in 6.89% subjects the dynamic CSF flow MRI was inconclusive. In the perpendicular plane CSF flow through the ETV fenestration was visible only by use of experimentally developed FISP 2D (TR30/FA70) sequence. Postoperative volume reduction of lateral and third ventricle was detected in 67.24% subjects.
Though both FISP 2D sequences acquired in midsagittal plane may be used to estimate the effects of performed ETV, due to achieved higher CSF pulsatile flow sensitivity, only the use of FISP 2D (TR30/FA70) sequence enables the estimation of the treatment effect in perpendicular plane in the absence of phase-contrast sequences.
Elevation in circulating YKL-40 concentration in patients with cerebrovascular disease
Authors: Xu Xue , Ma Hongling , Xu Jia , Huang Haiwei , Wu Xiaohong , Xiong Yan , Zhan Hong , Huang Fan 
Published: January 2015

YKL-40 is a novel inflammatory protein. Elevated serum levels of YKL-40 have been reported in patients with atherosclerosis and other cardiovascular diseases, but the circulating profile of YKL-40 in patients with cerebrovascular disease has been less investigated. This prospective observational study aimed to determine serum levels of YKL-40 in patients with different subtypes and severities of cerebrovascular disease. Eighty patients with acute ischemic stroke, 30 patients with acute hemorrhagic stroke, 15 patients with transient ischemic attack (TIA) and 18 age- and gender-matched healthy control subjects were recruited. Blood was sampled. Serum levels of YKL-40 were measured by ELISA. In healthy control subjects, serum levels of YKL-40 were 45.09±31.41 ng/ml, significantly lower than those in patients with acute ischemic stroke (178.58±127.78 ng/ml), hemorrhagic stroke (105.32±87.35 ng/ml) and TIA (148.09±108 ng/ml) respectively (P<0.05). When the 80 acute ischemic stroke cases were stratified into four Oxfordshire Community Stroke subtypes, serum levels of YKL-40 were significantly higher in patients with total anterior (n=16), partial anterior (n=25) and posterior (n=12) circulation infarctions respectively than those with lacunar (n=27) infarction (P<0.05). Moreover, 63 of 80 patients with acute ischemic stroke survived. Circulating levels of YKL-40 in these stroke survivors were associated with the United States National Institutes of Health Stroke Scale (NIHSS) scores of neurological deficit. In summary, serum levels of YKL-40 were elevated in patients with cerebrovascular disease in lesion subtype- and severity-dependent manners. These observations suggest a potential for YKL-40 as a diagnostic/prognostic biomarker for cerebrovascular disease.