91 research outputs found

    Dehumanization and Medical Abuse: Understanding Munchausen Syndrome by Proxy and Physician Liability

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    Munchausen Syndrome by Proxy (MSBP), according to the Diagnostic and Statistical Manual of Mental Disorders, is a relatively rare psychiatric disorder and form of child abuse wherein a caretaker will either purposefully induce real symptoms to make their child appear gravely sick or fabricate false medical symptoms, even in the absence of external rewards. It remains difficult to diagnose perpetrators of MSBP because the caretaker’s extreme concern for their child’s supposed ailments is rationalized as caring and devoted. However, the victim may suffer grievous physical and psychological damage, including death. Thus, it is pivotal that medical professionals and forensic evaluators are conscious of the different warning signs in perpetrators and victims so that they can appropriately intervene and report the suspicions of child abuse to the applicable authorities in their jurisdiction. Under 34 U.S. Code § 20341, mandated reporters working in their professional capacity must report their suspicions of child abuse as soon as they learn of facts that give reason to suspect that a child has suffered an incident of physical injury, sexual abuse, exploitation, or treatment of a child. Failure to report instances of child abuse can result in criminal charges and potential civil liability. While many physicians fear malpractice defamation lawsuits from MSBP perpetrators, they are immune from civil liability if they report under the good faith standard

    Behavioral development of dusky dolphins

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    This thesis examines the characteristics of dusky dolphin (Lagenorhynchus obscurus) nursery groups and ontogeny of dusky dolphin calves. Data were collected via boat-based group focal follows of nurseries from October 2006-May 2007. A total of 87 nursery groups were encountered. Data were analyzed according to age category (infant or yearling) and season (early or late). Nursery group membership was lowest in the early season and when yearlings were present. The average number of yearlings in a nursery group was less than that of infants. The predominant activity of calves was rest. Early infants rested the most, while travel seemed most important for late infants, and early yearlings were most likely to forage. With the exception of early infants, all calves were more likely than adults to interact with boats. When taking month into account, yearlings were more social in general than infants. Infants showed a positive trend in sociality, while yearling sociality remained relatively stable. Nursery groups are markedly segregated by calf age, and 80% of nursery groups contained calves of only one age group. Dusky dolphin calves show a similar trend in preference for position in relation to the mother as that in bottlenose dolphins (Tursiops sp.), with echelon swim decreasing with age. However, all calves appear to prefer echelon swim when nursery groups are traveling. Calves were more likely to swim independently in the late part of the season and while foraging or socializing, and were more likely to be in close proximity to their mothers while resting or traveling. Calves learned noisy leaps, followed by clean, coordinated, and acrobatic leaps, in that order. There was no clear relationship between behavioral state and types of leaps performed by calves. Early infants leapt less often than older calves, but leap frequency did not differ among the older calves. The overall pattern in the ontogeny of dusky dolphin leaps indicates that the physical development of leaps is learned individually, while the context in which the leaps are performed is learned from conspecifics. These results indicate that nursery groups represent an important environment for healthy physical and social development of calves

    HMMSplicer: A Tool for Efficient and Sensitive Discovery of Known and Novel Splice Junctions in RNA-Seq Data

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    Background: High-throughput sequencing of an organism’s transcriptome, or RNA-Seq, is a valuable and versatile new strategy for capturing snapshots of gene expression. However, transcriptome sequencing creates a new class of alignment problem: mapping short reads that span exon-exon junctions back to the reference genome, especially in the case where a splice junction is previously unknown. Methodology/Principal Findings: Here we introduce HMMSplicer, an accurate and efficient algorithm for discovering canonical and non-canonical splice junctions in short read datasets. HMMSplicer identifies more splice junctions than currently available algorithms when tested on publicly available A. thaliana, P. falciparum, and H. sapiens datasets without a reduction in specificity. Conclusions/Significance: HMMSplicer was found to perform especially well in compact genomes and on genes with low expression levels, alternative splice isoforms, or non-canonical splice junctions. Because HHMSplicer does not rely on prebuilt gene models, the products of inexact splicing are also detected. For H. sapiens, we find 3.6 % of 39 splice sites and 1.4% of 59 splice sites are inexact, typically differing by 3 bases in either direction. In addition, HMMSplicer provides a score for every predicted junction allowing the user to set a threshold to tune false positive rates depending on the needs of the experiment. HMMSplicer is implemented in Python. Code and documentation are freely available a

    Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG

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    BACKGROUND In spite of intensive efforts, understanding of the genetic aspects of familial prostate cancer (PC) remains largely incomplete. In a previous microsatellite‐based linkage scan of 1,233 PC families, we identified suggestive evidence for linkage (i.e., LOD ≥ 1.86) at 5q12, 15q11, 17q21, 22q12, and two loci on 8p, with additional regions implicated in subsets of families defined by age at diagnosis, disease aggressiveness, or number of affected members. METHODS In an attempt to replicate these findings and increase linkage resolution, we used the Illumina 6000 SNP linkage panel to perform a genome‐wide linkage scan of an independent set of 762 multiplex PC families, collected by 11 International Consortium for Prostate Cancer Genetics (ICPCG) groups. RESULTS Of the regions identified previously, modest evidence of replication was observed only on the short arm of chromosome 8, where HLOD scores of 1.63 and 3.60 were observed in the complete set of families and families with young average age at diagnosis, respectively. The most significant linkage signals found in the complete set of families were observed across a broad, 37 cM interval on 4q13–25, with LOD scores ranging from 2.02 to 2.62, increasing to 4.50 in families with older average age at diagnosis. In families with multiple cases presenting with more aggressive disease, LOD scores over 3.0 were observed at 8q24 in the vicinity of previously identified common PC risk variants, as well as MYC , an important gene in PC biology. CONCLUSIONS These results will be useful in prioritizing future susceptibility gene discovery efforts in this common cancer. Prostate 72:410–426, 2012. © 2011 Wiley Periodicals, Inc.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/90245/1/21443_ftp.pd

    The Brain Tumor Segmentation (BraTS) Challenge 2023: Focus on Pediatrics (CBTN-CONNECT-DIPGR-ASNR-MICCAI BraTS-PEDs)

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    Pediatric tumors of the central nervous system are the most common cause of cancer-related death in children. The five-year survival rate for high-grade gliomas in children is less than 20\%. Due to their rarity, the diagnosis of these entities is often delayed, their treatment is mainly based on historic treatment concepts, and clinical trials require multi-institutional collaborations. The MICCAI Brain Tumor Segmentation (BraTS) Challenge is a landmark community benchmark event with a successful history of 12 years of resource creation for the segmentation and analysis of adult glioma. Here we present the CBTN-CONNECT-DIPGR-ASNR-MICCAI BraTS-PEDs 2023 challenge, which represents the first BraTS challenge focused on pediatric brain tumors with data acquired across multiple international consortia dedicated to pediatric neuro-oncology and clinical trials. The BraTS-PEDs 2023 challenge focuses on benchmarking the development of volumentric segmentation algorithms for pediatric brain glioma through standardized quantitative performance evaluation metrics utilized across the BraTS 2023 cluster of challenges. Models gaining knowledge from the BraTS-PEDs multi-parametric structural MRI (mpMRI) training data will be evaluated on separate validation and unseen test mpMRI dataof high-grade pediatric glioma. The CBTN-CONNECT-DIPGR-ASNR-MICCAI BraTS-PEDs 2023 challenge brings together clinicians and AI/imaging scientists to lead to faster development of automated segmentation techniques that could benefit clinical trials, and ultimately the care of children with brain tumors

    Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families.

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    BACKGROUND: Genetic variants are likely to contribute to a portion of prostate cancer risk. Full elucidation of the genetic etiology of prostate cancer is difficult because of incomplete penetrance and genetic and phenotypic heterogeneity. Current evidence suggests that genetic linkage to prostate cancer has been found on several chromosomes including the X; however, identification of causative genes has been elusive. METHODS: Parametric and non-parametric linkage analyses were performed using 26 microsatellite markers in each of 11 groups of multiple-case prostate cancer families from the International Consortium for Prostate Cancer Genetics (ICPCG). Meta-analyses of the resultant family-specific linkage statistics across the entire 1,323 families and in several predefined subsets were then performed. RESULTS: Meta-analyses of linkage statistics resulted in a maximum parametric heterogeneity lod score (HLOD) of 1.28, and an allele-sharing lod score (LOD) of 2.0 in favor of linkage to Xq27-q28 at 138 cM. In subset analyses, families with average age at onset less than 65 years exhibited a maximum HLOD of 1.8 (at 138 cM) versus a maximum regional HLOD of only 0.32 in families with average age at onset of 65 years or older. Surprisingly, the subset of families with only 2-3 affected men and some evidence of male-to-male transmission of prostate cancer gave the strongest evidence of linkage to the region (HLOD = 3.24, 134 cM). For this subset, the HLOD was slightly increased (HLOD = 3.47 at 134 cM) when families used in the original published report of linkage to Xq27-28 were excluded. CONCLUSIONS: Although there was not strong support for linkage to the Xq27-28 region in the complete set of families, the subset of families with earlier age at onset exhibited more evidence of linkage than families with later onset of disease. A subset of families with 2-3 affected individuals and with some evidence of male to male disease transmission showed stronger linkage signals. Our results suggest that the genetic basis for prostate cancer in our families is much more complex than a single susceptibility locus on the X chromosome, and that future explorations of the Xq27-28 region should focus on the subset of families identified here with the strongest evidence of linkage to this region.RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'. In brief you may : copy, distribute, and display the work; make derivative works; or make commercial use of the work - under the following conditions: the original author must be given credit; for any reuse or distribution, it must be made clear to others what the license terms of this work are

    Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans

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    Genome-wide association studies (GWAS) have identified numerous common prostate cancer (PrCa) susceptibility loci. We have fine-mapped 64 GWAS regions known at the conclusion of the iCOGS study using large-scale genotyping and imputation in 25 723 PrCa cases and 26 274 controls of European ancestry. We detected evidence for multiple independent signals at 16 regions, 12 of which contained additional newly identified significant associations. A single signal comprising a spectrum of correlated variation was observed at 39 regions; 35 of which are now described by a novel more significantly associated lead SNP, while the originally reported variant remained as the lead SNP only in 4 regions. We also confirmed two association signals in Europeans that had been previously reported only in East-Asian GWAS. Based on statistical evidence and linkage disequilibrium (LD) structure, we have curated and narrowed down the list of the most likely candidate causal variants for each region. Functional annotation using data from ENCODE filtered for PrCa cell lines and eQTL analysis demonstrated significant enrichment for overlap with bio-features within this set. By incorporating the novel risk variants identified here alongside the refined data for existing association signals, we estimate that these loci now explain ∼38.9% of the familial relative risk of PrCa, an 8.9% improvement over the previously reported GWAS tag SNPs. This suggests that a significant fraction of the heritability of PrCa may have been hidden during the discovery phase of GWAS, in particular due to the presence of multiple independent signals within the same regio

    Choosing to run: a history of gender and athletics in Kenya, c. 1940s - 1980s

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    Choosing to Run: A History of Athletics and Gender in Kenya, c. 1940s – 1980s explores the history of gender and athletics in Kenya, with focus on the Rift Valley Province, from the onset of late colonial rule in the 1940s through the professionalisation of the sport during the last decades of the twentieth century. The first two empirical chapters provide a history of athletics during the colonial period. The first highlights the continuity of ideas about sport and masculinity that were developed in nineteenth century Britain and were subsequently perpetuated by the men in charge of colonial sport in Kenya. The next chapter considers how pre-colonial divisions of labour and power within Rift Valley communities informed local peoples' cultures of running. The absence of women’s running was not only the result of sexism translated from the British metropole to its Kenyan colony but also of pre-existing divisions of responsibilities of indigenous Kenyan men and women into separate, gendered domains. The second half of the thesis considers the impact of social change within women’s athletics internationally and of marriage, childbirth and education locally on female runners in the Rift Valley during the post-colonial period. Most women abandoned athletics once they reached maturity. Those who sought to do otherwise, as the final chapter argues, found that they could only do so by replicating the prototype of masculine runners that had already been established. Later, after the professionalisation of running allowed women to become wealthy, female patrons took this a step further by providing resources to those in their community in need, setting themselves up as 'Big (Wo)men'. This thesis uses athletics to reveal how gender relations and gender norms have evolved and the benefits and challenges that the sport has brought both to individual Kenyan women and their communities.This thesis is not currently available in ORA
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