Current Reference Data Research Articles

SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.

DNA methylation signatures ("episignatures") can be used as biomarkers of genetic aberrations, clinical phenotypes, and environmental exposures in rare diseases. Episignatures are utilized in molecular diagnostics and can clarify variants of uncertain significance. A growing number of disease genes, including epilepsy genes, exhibit robust and reproducible episignatures. However, whether SCN1A, the most prominent epilepsy gene, has one or more episignatures has not yet been determined. We generated genome-wide DNA methylation data and performed episignature analysis on 64 individuals with Dravet syndrome due to pathogenic loss-of-function (LOF) variants in SCN1A and seven individuals with early infantile SCN1A developmental and epileptic encephalopathy due to pathogenic gain-of-function (GOF) variants in SCN1A, relative to a large reference database of controls and rare disease episignature-positive cohorts. We analyzed all samples with LOF variants together and performed separate analyses for missense, nonsense, and GOF variant cohorts. A reproducible blood-derived episignature was not evident in any of the cohorts using current analytical approaches and reference data.

Design and simulation of zeta solar charge controller with artificial neural network MPPT

Fossil fuel are non-renewable energy sources with constrained reserves. This advocates renewable energy as a viable alternative for electricity generation. PV is a renewable energy source that harnesses solar energy. The current issue with PV is its low efficiency and elevated cost. Photovoltaic control devices and Maximum Power Point Tracking (MPPT) mimic human neural networks in processing multiple conditions and providing solutions from current reference data to optimise photovoltaic power. This technique is known as Artifical neural network (ANN). This method uses a zeta converter to adjust the photovoltaic voltage to supply specific loads, allowing ANN to optimize power as sunlight intensity changes. In this work, a charge controller for solar applications was designed using MPPT algorithms. This is responsible for overseeing the battery circuit and producing PWM signals to regulate zeta converter according to the battery voltage. The artificial neural network (ANN) received as inputs temperature and irradiation (G). Several simulations verified the efficiency of the suggested MPPT algorithm. The Zeta solar charge controller (ZSCC) device achieved up to 92% efficiency with low irradiance. The proposed ANN-based MPPT controller and perturb-observed Maximum Power Point Tracking (MPPT) algorithm were compared in different solar insolations. The simulation results show that MPPT-ANN can track power up to 2000 Watts for a 2000 WP photovoltaic in 0.056 seconds, with no power oscillations at the MPP.

Studying eruption patterns of mandibular third molars for forensic age assessment: Introducing current reference data from a population of black South Africans

IntroductionEvaluation of the eruption of mandibular third molars in orthopantomograms (OPGs) is a method of forensic age assessment. The objective of our study was to provide valid reference data for this trait within a population of black South Africans. The study was guided by the criteria for reference studies in age assessment.Materials and methodsA study population from Pretoria, South Africa comprising 670 OPGs obtained from 338 black females and 332 black males aged between 15.00 and 25.97 years was analysed. All OPGs were performed for medical indication during the period from 2011 to 2022 and were retrospectively evaluated. From the 670 OPGs, a total of 1021 mandibular third molars were evaluated. The assessment of mandibular third molars was conducted using the staging scale presented by Olze et al. in 2012. Two experienced dentists evaluated the OPGs independently of each other. If the two examiners diverged in their assessments, a consensus stage was assigned.ResultsAs expected, the mean, median and minimal age increased with higher stages for both teeth and both sexes. The minimum age recorded for stage D, indicating complete tooth eruption, was 15.79 years in females and 16.62 years in males.ConclusionAs it is the case for previous reference studies in other countries, placing exclusive reliance on the evaluation of mandibular third molar eruption is inadequate for ascertaining the age of majority among Black South Africans. Future studies need to examine if our results are transferable to other countries in Sub-Saharan Africa.

Experimental investigation of thermophysical properties of ethylene glycol based secondary fluids

Aqueous solutions of ethylene glycol are commonly used as secondary fluids in different indirect refrigeration systems and heat pumps as well as nanofluids. A very extensive literature review has been done, including more than 90 references published from 1905 to 2023. Despite the wide application and importance, especially in the energy sector, ethylene glycol solutions seem to be less investigated in low temperature ranges and more research is required to improve the quality and quantity of available data. The novelty of this paper is to investigate the most important thermophysical properties of ethylene glycol solutions in low temperatures. In this study a different approach was made and solutions having a specific freezing point temperature (between -5 and -50 ºC) rather than specific concentration were investigates in temperature ranges applicable for different cooling applications. The concentrations giving a certain freezing point temperature seemed to deviate in some cases with 1–2 wt-% between different sources. Nevertheless, the density results were in rather good agreement with all reference data. The viscosity results were lower by up to ±10% compared to reference values. Additionally, the obtained experimental results for thermal conductivity were higher by up to 12% compared to ASHRAE (American Society of Heating, Refrigerating and Air-Conditioning Engineers) data. The specific heat capacity results were higher by up to 14.6% and 5.4% than current reference data. There is a high probability that the current ASHRAE data for specific heat are actually indirectly calculated values from thermal conductivity data and not validated using differential scanning calorimetry techniques.

Key Data-Based Church Growth in Indonesia From Evangelical Perspective and Critical Review of Them

The datas which is contained in the books of church growth are mostly non-empirical research, on the other hand only raises subject of motivational, hope & promises and apologetic figures. Empirical research approach on the theme or theology of church growth produces data with factual figures. Bilangan Research Center (BRC) is an empirical research institute that provides relevant, valid and current reference data on Christian spirituality and church growth. Spirituality and church growth are discussed using a national-level empirical research database. This paper examines the BRC from an evangelical perspective and critiques its findings from an ecumenical perspective.

Key Data-Based Church Growth in Indonesia From Evangelical Perspective and Critical Review of Them

The datas which is contained in the books of church growth are mostly non-empirical research, on the other hand only raises subject of motivational, hope & promises and apologetic figures. Empirical research approach on the theme or theology of church growth produces data with factual figures. Bilangan Research Center (BRC) is an empirical research institute that provides relevant, valid and current reference data on Christian spirituality and church growth. Spirituality and church growth are discussed using a national-level empirical research database. This paper examines the BRC from an evangelical perspective and critiques its findings from an ecumenical perspective.

Use of craniometric data to facilitate migrant identifications at the United States/Mexico border.

Thousands of migrants have died along the United States/Mexico border and many remain unidentified. The purpose of this research is to test whether estimations of population affinity, derived from craniometric data, can facilitate identification of migrant remains and provide a geographic region of origin rather than the broad label Hispanic. The appropriateness of current forensic reference data will also be assessed. A case study combined with craniometric data from positively identified and unidentified migrants from the Pima County Office of the Medical Examiner (n=489) in Arizona and operation identification (n=201) in Texas were compared to skeletal data representing Guatemalan (n=87) and Mexican (n=65) Mayans. Biological distance and discriminant function analyses were used to assess overall population relationships and classificatory models for forensic anthropological application. The majority of evidence indicates that estimations of population affinity can assist in the facilitation identification of migrant remains, even when a broad classification is used. Biological distances among the groups suggest that positively identified Guatemalan and Mexican migrants are similar to one another but differ from Guatemalan and Mexican Mayans. Population affinity estimations can aid migrant identification, and current reference data used in forensic anthropological practice should be replaced with data from positive identifications. Estimates of geographic origin may be more useful than the broad generic term Hispanic for narrowing down the search for a missing person, but more data and research is needed to achieve this goal. Although, the utility of geographic origin estimates relies on transnational data centralization and sharing, which is not always the case.

Reference Values of Sensory and Motor Nerve Conduction for Patients of a Fourth Level Hospital in Bogotá, Colombia

Objective: To establish normal values of motor and sensory nerve conductions and late responses for the electrodiagnostic laboratory of the hospital universitario San Ignacio.
 Materials and Methods: Sensory and motor nerve conduction studies were performed on 77 healthy volunteers between 18 and 65 years old, for a total of 154 analyzes, using a standardized technique for measurement.
 Results: Motor nerve conduction. For the median nerve the latency ≤4.2ms, amplitude ≥3.1mV and conduction velocity ≥50.8m/s. In the ulnar nerve the latency ≤3.6ms, amplitude ≥4.6mV and conduction velocity ≥49m/s. Tibial nerve latency ≤4.4ms, amplitude ≥5mV and conduction velocity ≥41m/s. Peroneal nerve latency ≤4.8ms, amplitude ≥1.6mV and conduction velocity ≥42m/s. Sensory nerve conduction. For the median nerve the latency ≤2.8ms and conduction velocity ≥45m/s. In the ulnar nerve the latency ≤2.7ms and conduction velocity ≥46m/s. Sural nerve latency ≤2.2ms and conduction velocity ≥41m/s. A Shapiro Wilk test was performed, finding that the amplitude parameters for sensory nerve conductions did not follow a normal distribution, so percentile analysis was performed. Only sex showed a statistically significant difference for the parameters of tibial nerve amplitude (p = 0.0099) being greater in women, and latency of the peroneal nerve (p = 0.0091) being greater in men.
 Conclusion: Normal parameters were established for motor and sensory nerve conductions and late responses for the electrodiagnostic laboratory of the hospital universitario San Ignacio, which mostly correlate with the current reference data, with certain differences that could be related with height and sex, however, additional studies are required to establish this difference.

Surveillance of external ventricular drainage-associated meningitis and ventriculitis in German intensive care units

In light of the infection risk associated with external ventricular drainage (EVD), we decided to establish the surveillance of EVD-associated meningitis/ventriculitis in German intensive care units (ICUs) in the framework of the German national nosocomial infection surveillance system (KISS). Here, we present the current reference data and subsequent risk-factor analysis for EVD-associated meningitis/ventriculitis rates. The surveillance method corresponds with the surveillance methods for device-associated infections recommended by the National Healthcare Safety Network (NHSN). All ICUs participating for at least 1 month from 2008 to 2016 in the module ICU-KISS were included in the reference dataset and the multivariate analysis. Current reference data (2008-2016) are based on input from 157 ICUs. The mean EVD-associated meningitis/ventriculitis rate per 1,000 EVD days was 3.96, with little variation between neurosurgical, surgical, interdisciplinary (hospitals with >400 beds), and neurological ICUs. In total, 893 EVD-associated meningitis/ventriculitis cases and 225,351 EVD days were included in the risk-factor analysis. After multivariate analysis, 2 factors remained significant: (1) stay in an ICU labeled other than neurosurgical, surgical, interdisciplinary (>400 beds), and neurological as a protective factor and (2) EVD utilization rate above the 75th quantile as a risk factor for acquisition of EVD-associated meningitis/ventriculitis. EVD-associated meningitis and ventriculitis are frequent complications of care in intensive care patients at risk. A long hospital stay and/or the presence of the EVD puts the patient at high risk for pathogen acquisition with subsequent infection.

Road Surface Photometric Characterisation and Its Impact on Energy Savings

How road surfaces reflect light in space is a physical characteristic that plays a key role in the design of road lighting installations: by European Standards the average luminance is the target quantity to assure the required safety conditions of the motorized road traffic. Lighting systems are designed (luminous flux installed per kilometre) to comply with the above requirement, starting from reference values of road surfaces reflection published in an old scientific document. These data are obsolete and not representative of current road surfaces, but they are still used to design current LED lighting systems. European Community funded a SURFACE project to provide to EU standard organization new traceable reference data, representative of current road surfaces used in EU. The paper presents the data collections and the impact on road lighting of using available old reference data versus SURFACE collected data of current road surfaces. Results highlight advantages in using bright pavements as well the need for introducing systems for flux control in road lighting installation to compensate for the discrepancies between current reference data and actual road surface data.

M111 - EXOME SEQUENCING IN SEVERE ALCOHOL USE DISORDER CASES

M111 - EXOME SEQUENCING IN SEVERE ALCOHOL USE DISORDER CASES

Age and Gender-Related Pretreatment Quality of Life Profiles in Patients with Higher-Risk Myelodysplastic Syndromes. Establishing Benchmark Data from an International Study

Age and Gender-Related Pretreatment Quality of Life Profiles in Patients with Higher-Risk Myelodysplastic Syndromes. Establishing Benchmark Data from an International Study

Mapping wetlands in the Hudson Highlands ecoregion with ALOS PALSAR: an effort to identify potential swamp forest habitat for golden-winged warblers

In New York State, the golden-winged warbler (GWW), a state species of special concern, has recently been found to nest in swamp forest habitat in Sterling Forest State Park in the Hudson Highlands ecoregion. These swamp forest breeding territories are often embedded in a mosaic of wetland cover types. An accurate map of wetlands in the Hudson Highlands would be a useful input to a GWW habitat suitability model and could help conservation managers better allocate limited resources towards GWW monitoring and habitat management. This study tests the effectiveness of single and dual-season dual-polarization L-band ALOS PALSAR data and National Wetlands Inventory ground reference data for classifying wetlands at high resolution in a mountainous landscape using a maximum likelihood decision rule. PALSAR imagery was chosen over Landsat for its ability to detect surface conditions beneath a vegetation canopy and for its higher spatial resolution, necessary for capturing land cover characteristics at a scale that would be meaningful for characterizing GWW territories. Dual-season dual-polarization imagery produced the highest overall accuracy (72 %, kappa = 0.5669) and the highest producer’s accuracy for forested wetlands (~58 %). Errors in classifying forested wetlands were dominated by misclassification to the Urban class, most likely due to the similarity of SAR double bounce trunk-ground and building-ground interactions. Emergent and scrub-shrub wetlands proved difficult to segregate and were classified with maximum accuracies of 49 and 14 %, respectively. These results are comparable to those of similar studies and could be improved with more current ground reference data. In addition, the classification captured the mosaic of wetland cover types present in GWW study sites and territories in Sterling Forest State Park indicating PALSAR imagery could be used for GWW habitat analyses.

Projection radiography of the clavicle: still recommendable for forensic age diagnostics in living individuals?

As superimposition effects often impede the evaluation of the ossification status of the medial clavicular epiphysis in standard posterior-anterior (PA) radiographs, additional oblique images (right anterior oblique, RAO, and left anterior oblique, LAO) are currently recommended to allow for reliable stage assessments. The present study examines the influence of the radiographic projection type on stage determination. To this end, 836 sternoclavicular joints were prospectively obtained during forensic autopsies of bodies aged between 15 and 30 years. Subsequently, three different radiographs (PA, RAO, and LAO) were taken from each specimen and separately evaluated as to the developmental stage of the medial clavicular epiphysis. A forensically established five-stage classification system was used. In 25 % of the cases, the medial clavicular epiphysis depicted in an oblique projection showed a different ossification stage than in the PA projection. In at least 10 % of the cases, a higher ossification stage was observed which would have significant disadvantages in criminal proceedings (ethically unacceptable error). In conclusion, the usage of the current radiographic reference data, which rely upon chest radiographs taken as PA projections, appears to be inadmissible for oblique projections. Projection radiography of the clavicle can therefore no longer be recommended for forensic age estimation practice. As to the question of whether an individual has achieved the age of 18 or 21, computed tomography of the clavicle must be regarded as the exclusive method of choice.

Reappraisal of Nuclear Quadrupole Moments of Atomic Halogens via Relativistic Coupled Cluster Linear Response Theory for the Ionization Process

The coupled cluster based linear response theory (CCLRT) with four-component relativistic spinors is employed to compute the electric field gradients (EFG) of (35)Cl, (79)Br, and (127)I nuclei. The EFGs resulting from these calculations are combined with experimental nuclear quadrupole coupling constants (NQCC) to determine the nuclear quadrupole moments (NQM), Q of the halide nuclei. Our estimated NQMs [(35)Cl = -81.12 mb, (79)Br = 307.98 mb, and (127)I = -688.22 mb] agree well with the new atomic values [(35)Cl = -81.1(1.2), (79)Br = 302(5), and (127)I = -680(10) mb] obtained via Fock space multireference coupled cluster method with the Dirac-Coulomb-Breit Hamiltonian. Although our estimated Q((79)Br) value deviates from the accepted reference value of 313(3) mb, it agrees well with the recently recommended value, Q((79)Br) = 308.7(20) mb. Good agreement with current reference data indicates the accuracy of the proposed value for these halogen nuclei and lends credence to the results obtained via CCLRT approach. The electron affinities yielded by this method with no extra cost are also in good agreement with experimental values, which bolster our belief that the NQMs values for halogen nuclei derived here are reliable.

Reference curves for triceps and subscapular skinfold thicknesses in US children and adolescents

Reference curves for triceps and subscapular skinfold thicknesses in US children and adolescents

Bone mineral density of the spine and femur in healthy Chinese men

To establish bone mineral density (BMD) reference database in healthy Chinese men of Han ethnicity, and to estimate the prevalence of osteoporosis in the population. The BMD in the lumbar spine 1-4 (L1-4) and proximal femur was measured using dual energy X-ray absorptiometry in a total of 1 385 healthy Chinese men of Han ethnicity aged 20-89 years old in Shanghai. The highly significant negative correlation between age and BMD at any sites of proximal femur was found in the studied population, wheras no correlation between age and BMD at lumbar spine was observed. The peak BMD of the lumbar spine and any sites of hip in Chinese men was defined as the mean BMD for the subjects aged 20-89 years. According to World Health Organization (WHO) criteria, the BMD cut-off values for osteoporosis of the L1-4, total hip, femoral neck, trochanter and intertrochanter in Chinese men are 0.719, 0.638, 0.575, 0.437 and 0.725 g/cm(2), respectively. Using the current Chinese reference data, the prevalence of osteoporosis at the L1-4, total hip, femoral neck, trochanter and intertrochanter is 5.4%, 3.8%, 6.3%, 1.8% and 2.8% in 1 084 men aged 50 years or older, respectively. However, using a database for US non-Hispanic white men (NHANES III), the prevalence of osteoporosis or osteopenia at any sites of the hip was significantly higher than that while using the current Chinese reference data. The BMD reference database was established in healthy Chinese men of Han ethnicity, and will facilitate more accurate diagnosis of osteoporosis in Chinese men.

Bond Strength of Chlorine Peroxide

The bond strength of chlorine peroxide (ClOOCl) is studied by photoionization mass spectrometry. The experimental results are obtained from the fragmentation threshold yielding ClO+, which is observed at 11.52 +/- 0.025 eV. The O-O bond strength D(o) is derived from this value in comparison to the first ionization energy of ClO, yielding D(o)298 = 72.39 +/- 2.8 kJ mol(-1). The present work provides a new and independent method to examine the equilibrium constant K(eq) for chlorine peroxide formation via dimerization of ClO in the stratosphere. This yields an approximation for the equilibrium constant in the stratospheric temperature regime between 190 and 230 K of the form K(eq) = 1.92 x 10(-27) cm3 molecules(-1) x exp(8430 K/T). This value of K(eq) is lower than current reference data and agrees well with high altitude aircraft measurements within their scattering range. Considering the error limits of the present experimental results and the resulting equilibrium constant, there is agreement with previous works, but the upper limit of current reference values appears to be too high. This result is discussed along with possible atmospheric implications.

Studies on human body composition during the first 4 months of life using magnetic resonance imaging and isotope dilution.

Assessing body composition during infancy requires data for the so-called reference infant. Currently available data for this purpose need to be updated and extended using methods based on principles different from those used previously to define the reference infant. Thus, magnetic resonance imaging was applied to full-term healthy boys (n = 25) and girls (n = 21), 4-131 d old, to estimate adipose tissue volume (ATV) and the amounts of s.c. and non-s.c. adipose tissue (AT). Total body water was estimated using isotope dilution. Total body fat (TBF), fat free weight (FFW) and the degree of hydration in FFW were calculated. Increases in weight, TBF, and FFW with age agreed with current reference data, although when compared with the reference, a slightly more rapid increase in % TBF was observed for boys. The degree of hydration in FFW was 78.9 +/- 4.5% (n = 45). Both sexes showed significant increases with age in s.c. ATV (14.7 and 13.0 mL/d for boys and girls, respectively) and in non-s.c. ATV (1.58 and 1.26 mL/d, respectively). Subcutaneous ATV was 90.5 +/- 1.8% (boys) and 91.1 +/- 1.9% (girls) of total ATV. In conclusion, a pronounced increase with age in the amount of AT was demonstrated involving a considerable gain in s.c. fat during early life. Except for % TBF in boys, changes in body composition with age agreed with current reference data.

Skeletal measurements among infants who die during the perinatal period: new population-based reference.

Reference data for roentgen skeletal measurements among infants who die during the perinatal period is not available, although it might prove helpful in the study of pre-autopsy radiographs. Our aim was to define new population-based reference data for skeletal measurements among infants who die during the perinatal period. We routinely took standardised pre-autopsy radiographs of aborted and stillborn fetuses from 16 weeks gestational age to 7 days after delivery during a period of 11 years in our hospital. The data presented here represents nearly all perinatal deaths in a well-defined geographical area during the study period. We calculated detailed plots of estimated 10th-90th centiles and quartiles of different skeletal measurements by gestational age at death. High correlations were seen between birth weight and the different skeletal measurements, including cranial width ( r>0.9, P<0.001). We were not able to identify any asymmetrical pattern of skeletal growth. Reference plots for femoral, tibial, humeral, radial and lumbar spine lengths, and for pelvic width are presented. We suggest that the current population-based reference data might be beneficial, and that skeletal radiographic measurements might contribute substantially in the assessment of fetal growth stage and in detection of skeletal abnormalities in infants who die during the perinatal period.