Reducing Blood Draws in Pediatric Patients With Solid Organ Injury Through Protocolized Transcutaneous Hemoglobin Monitoring.

Background: Management of pediatric solid organ injuries continues to evolve, decreasing the need for serial hemoglobin measurements, repeat imaging, and operative intervention. Transcutaneous continuous hemoglobin monitoring (TCHM) has been shown to effectively monitor hemoglobin levels in children with solid organ trauma.

Methods: A 6-year, single-center, retrospective chart review was conducted of pediatric solid organ injury patients aged 30 days to <18 years admitted to a quaternary children's hospital following implementation of a highly protocolized TCHM system.

Identifying distant relatives using benchtop-scale sequencing.

The genetic component of forensic genetic genealogy (FGG) is an estimate of kinship, often conducted at genome scales between a great number of individuals. The promise of FGG is substantial: in concert with genealogical records and other nongenetic information, it can indirectly identify a person of interest. A downside of FGG is cost, as it is currently expensive and requires chemistries uncommon to forensic genetic laboratories (microarrays and high throughput sequencing).

A new implementation of a semi-continuous method for DNA mixture interpretation.

A new calculation module within the PopStats module of the CODIS software package, based on the underlying mathematics presented in the MixKin software package, has been developed for assigning the Likelihood Ratio (LR) of DNA mixture profiles. This module uses a semi-continuous model that allows for population structure and allelic drop-out and drop-in but does not require allelic peak heights or other laboratory-specific parameters. This new implementation (named SC Mixture), like MixKin, does not specify or estimate a probability of drop-out.

Mixture detection with Demixtify.

The de facto genetic markers of forensics are short tandem repeats (STRs). There are many analytical tools designed to work with STRs, including techniques for analyzing and assessing DNA mixtures. In contrast, the nascent field of forensic genetic genealogy often relies on biallelic single nucleotide polymorphisms (SNPs).

TNFα induced by DNA-sensing in macrophage compromises retinal pigment epithelial (RPE) barrier function.

Increasing evidence suggests that chronic inflammation plays an important role in the pathogenesis of age-related macular degeneration (AMD); however, the precise pathogenic stressors and sensors, and their impact on disease progression remain unclear. Several studies have demonstrated that type I interferon (IFN) response is activated in the retinal pigment epithelium (RPE) of AMD patients. Previously, we demonstrated that human RPE cells can initiate RNA-mediated type I IFN responses through RIG-I, yet are unable to directly sense and respond to DNA.

Hydrothermal enrichment of lithium in intracaldera illite-bearing claystones.

Developing a sustainable supply chain for the global proliferation of lithium ion batteries in electric vehicles and grid storage necessitates the extraction of lithium resources that minimize local environmental impacts. Volcano sedimentary lithium resources have the potential to meet this requirement, as they tend to be shallow, high-tonnage deposits with low waste:ore strip ratios. Illite-bearing Miocene lacustrine sediments within the southern portion of McDermitt caldera (USA) at Thacker Pass contain extremely high lithium grades (up to ~1 weight % of Li), more than double the whole-rock concentration of lithium in smectite-rich claystones in the caldera and other known claystone lithium resources globally (<0.

Ovarian Torsion and Its Remediation in a Three-Year-Old Girl.

Ovarian torsion is a rare, emergent occurrence seen in the premenarchal population. If detected promptly, ovarian torsion can be treated via detorsion. We present a case of a three-year-old girl whose ovary spontaneously torsed and was corrected via ovarian detorsion.

Study of CTS DNA Proficiency Tests with Regard to DNA Mixture Interpretation: A NIST Scientific Foundation Review.

The National Institute of Standards and Technology has released a document entitled DNA Mixture Interpretation: A NIST Scientific Foundation Review for public comment. This has become known as the Draft NIST Foundation Review. It contains the statement: "Across these 69 data sets, there were 80 false negatives and 18 false positives reported from 110,408 possible responses (27,602 participants × two evidence items × two reference items).

Assessment of human nuclear and mitochondrial DNA qPCR assays for quantification accuracy utilizing NIST SRM 2372a.

In forensic DNA casework, a highly accurate real-time quantitative polymerase chain reaction (qPCR) assay is recommended per the Scientific Working Group on DNA Analysis Methods (SWGDAM) (SWGDAM Validation Guidelines for DNA Analysis Methods [1]) to determine whether a DNA sample is of sufficient quantity and robust quality to move forward with downstream short tandem repeats (STR) or sequencing analyses. Most of these assays rely on a standard curve, referred to herein and traditionally as absolute qPCR, in which an unknown is compared, relative to that curve. However, one fundamental issue with absolute qPCR is the quantifiable concentration of commercial assay standards can vary depending on (1) origin, i.

Exploring likelihood ratios assigned for siblings of the true mixture contributor as an alternate contributor.

Relatives tend to have more DNA in common than unrelated people. The closer the biological relationship, the higher the chance of alleles being identical by descent between the individuals. Therefore, when considering a mixed DNA profile, close relatives of the true contributor may not always be excluded as a possible contributor to a mixture due to allele sharing.

Genetic Control of Collective Behavior in Zebrafish.

Many animals, including humans, have evolved to live and move in groups. In humans, disrupted social interactions are a fundamental feature of many psychiatric disorders. However, we know little about how genes regulate social behavior.

αKlotho Regulates Age-Associated Vascular Calcification and Lifespan in Zebrafish.

The hormone αKlotho regulates lifespan in mice, as knockouts die early of what appears to be accelerated aging due to hyperphosphatemia and soft tissue calcification. In contrast, the overexpression of αKlotho increases lifespan. Given the severe mouse phenotype, we generated zebrafish mutants for αklotho as well as its binding partner fibroblast growth factor-23 (fgf23).

Abnormal Behavior of Zebrafish Mutant in Dopamine Transporter Is Rescued by Clozapine.

Dopamine transporter (SLC6A3) deficiency causes infantile Parkinson disease, for which there is no effective therapy. We have explored the effects of genetically deleting SLC6A3 in zebrafish. Unlike the wild-type, slc6a3-/- fish hover near the tank bottom, with a repetitive digging-like behavior.

Mitochondrial DNA control region variation in Lebanon, Jordan, and Bahrain.

This study investigated the mitochondrial DNA (mtDNA) control region variation in Middle Eastern populations (610 individuals from Lebanon, Jordan and the Kingdom of Bahrain) for which population data are scarce. FST comparison among populations revealed that there are significant differences in mtDNA distributions between Bahrain and the two other populations, while Lebanon and Jordan showed no significant differences. This was also reflected by the distribution of the observed lineages that differed prominently between Bahrain and the other two investigated populations.

STRmix™ collaborative exercise on DNA mixture interpretation.

An intra and inter-laboratory study using the probabilistic genotyping (PG) software STRmix™ is reported. Two complex mixtures from the PROVEDIt set, analysed on an Applied Biosystems™ 3500 Series Genetic Analyzer, were selected. 174 participants responded.

Maternal Prenatal Screening and Serologies.

Background: Maternal prenatal screening is essential in preventing pregnancy complications as well as preventing and/or predicting neonatal and infant medical issues after delivery that are due to certain communicable diseases.

Purpose: This article is aimed at gathering and presenting the most recent information regarding the most common prenatal screening laboratory studies and the implications with the various diseases.

Methods/search Strategy: An extensive medical database search was performed and the most relevant medical texts regarding the subject of prenatal screening were obtained.

Probabilistic genotyping software: An overview.

The interpretation of mixed profiles from DNA evidentiary material is one of the more challenging duties of the forensic scientist. Traditionally, analysts have used a "binary" approach to interpretation where inferred genotypes are either included or excluded from the mixture using a stochastic threshold and other biological parameters such as heterozygote balance, mixture ratio, and stutter ratios. As the sensitivity of STR multiplexes and capillary electrophoresis instrumentation improved over the past 25 years, coupled with the change in the type of evidence being submitted for analysis (from high quality and quantity (often single-source) stains to low quality and quantity (often mixed) "touch" samples), the complexity of DNA profile interpretation has equally increased.

Expanding beyond the current core STR loci: An exploration of 73 STR markers with increased diversity for enhanced DNA mixture deconvolution.

Current approaches to mixture deconvolution of complex biological samples at times do not have the capability to resolve component contributors in DNA evidence. Additional short tandem repeat (STR) loci were sought that may improve the forensic genetic analysis of mixtures. This study presents exploratory data of a multiplex comprised of 73 highly polymorphic STRs (referred herein as the 73Plex) that were selected because of their high diversity due to sequence variation.

NIST interlaboratory studies involving DNA mixtures (MIX13): A modern analysis.

MIX13 was an interlaboratory exercise directed by NIST in 2013. The goal of the exercise was to evaluate the general state of interpretation methods in use at the time across the forensic community within the US and Canada and to measure the consistency in mixture interpretation. The findings were that there was a large variation in analysts' interpretations between and within laboratories.

NIST interlaboratory studies involving DNA mixtures (MIX05 and MIX13): Variation observed and lessons learned.

Interlaboratory studies are a type of collaborative exercise in which many laboratories are presented with the same set of data to interpret, and the results they produce are examined to get a "big picture" view of the effectiveness and accuracy of analytical protocols used across participating laboratories. In 2005 and again in 2013, the Applied Genetics Group of the National Institute of Standards and Technology (NIST) conducted interlaboratory studies involving DNA mixture interpretation. In the 2005 NIST MIX05 study, 69 laboratories interpreted data in the form of electropherograms of two-person DNA mixtures representing four different mock sexual assault cases with different contributor ratios.

A response to "Likelihood ratio as weight of evidence: A closer look" by Lund and Iyer.

Recently, Lund and Iyer (L&I) raised an argument regarding the use of likelihood ratios in court. In our view, their argument is based on a lack of understanding of the paradigm. L&I argue that the decision maker should not accept the expert's likelihood ratio without further consideration.

The peopling of South America and the trans-Andean gene flow of the first settlers.

Genetic and archaeological data indicate that the initial Paleoindian settlers of South America followed two entry routes separated by the Andes and the Amazon rainforest. The interactions between these paths and their impact on the peopling of South America remain unclear. Analysis of genetic variation in the Peruvian Andes and regions located south of the Amazon River might provide clues on this issue.