Type IV FDP avulsion: lessons learned clinically and through review of the literature.
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ABSTRACT:
SUBMITTER: Henry SL
PROVIDER: S-EPMC2787222 | biostudies-other | 2009 Dec
REPOSITORIES: biostudies-other
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Project description:BackgroundResources within the Undiagnosed Diseases Network (UDN), such as genome sequencing (GS) and model organisms aid in diagnosis and identification of new disease genes, but are currently difficult to access by clinical providers. While these resources do contribute to diagnoses in many cases, they are not always necessary to reach diagnostic resolution. The UDN experience has been that participants can also receive diagnoses through the thoughtful and customized application of approaches and resources that are readily available in clinical settings.MethodsThe UDN Genetic Counseling and Testing Working Group collected case vignettes that illustrated how clinically available methods resulted in diagnoses. The case vignettes were classified into three themes; phenotypic considerations, selection of genetic testing, and evaluating exome/GS variants and data.ResultsWe present 12 participants that illustrate how clinical practices such as phenotype-driven genomic investigations, consideration of variable expressivity, selecting the relevant tissue of interest for testing, utilizing updated testing platforms, and recognition of alternate transcript nomenclature resulted in diagnoses.ConclusionThese examples demonstrate that when a diagnosis is elusive, an iterative patient-specific approach utilizing assessment options available to clinical providers may solve a portion of cases. However, this does require increased provider time commitment, a particular challenge in the current practice of genomics.
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Project description:BackgroundTo help understand the potential impact of the 2009 H1N1 pandemic in Africa, we reviewed published data from Africa of the two previous influenza pandemics.MethodsWe conducted a systematic search of three biomedical databases for articles in any language on 1957 H2N2 or 1968 H3N2 pandemic influenza virus infection in Africa published from January 1950 through August 2008.ResultsWe identified 1327 potentially relevant articles, and 298 warranted further review. Fourteen studies on 1968 H3N2 influenza met inclusion criteria, while two studies identified describing 1957 H2N2 were excluded for data limitations. Among these 14 studies, community attack rates for symptomatic infection during all 1968 pandemic waves were around 20%. However, the proportion infected in communities ranged from 6% in isolated communities to 100% in enclosed populations. A total of 22-64% of sampled clinic patients and 8-72% of hospitalized patients had evidence of 1968 H3N2 virus infection. After the second pandemic wave, up to 41-75% of persons tested had serological evidence of 1968 H3N2 virus infection.ConclusionThe 1968 H3N2 influenza pandemic, generally regarded as mild worldwide, appears to have had a substantial impact upon public health in Africa. Without more epidemiologic data the impact of the 2009 H1N1 pandemic in Africa cannot be assumed to have been mild. Assessment of the burden of 2009 H1N1 virus and future influenza pandemics in Africa should attempt to assess disease impact by a variety of methods, including substudies among specific populations.
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Project description:BackgroundAction research (AR) is an established research framework to introduce change in a community following a cyclical approach and involving stakeholders as coresearchers in the process. In recent years, it has also been used for eHealth development. However, little is known about the best practices and lessons learned from using AR for eHealth development.ObjectiveThis literature review aims to provide more knowledge on the best practices and lessons learned from eHealth AR studies. Additionally, an overview of the context in which AR eHealth studies take place is given.MethodsA semisystematic review of 44 papers reporting on 40 different AR projects was conducted to identify the best practices and lessons learned in the research studies while accounting for the particular contextual setting and used AR approach.ResultsRecommendations include paying attention to the training of stakeholders' academic skills, as well as the various roles and tasks of action researchers. The studies also highlight the need for constant reflection and accessible dissemination suiting the target group.ConclusionsThis literature review identified room for improvements regarding communicating and specifying the particular AR definition and applied approach.
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Project description:Recurrent ischemic strokes are a cause of significant healthcare burdens globally. Patients with uncontrolled vascular risk factors are more likely to develop recurrent ischemic strokes. This study aims to compile information gained from current secondary prevention programs. A pre-defined literature search strategy was applied to PubMed, SCOPUS, CINAHL, and Google Scholar databases, and studies from 1997 to 2020 were evaluated for quality, study aims, and outcomes. The search produced 1175 articles (1092 after duplicates were removed) and titles were screened; 55 titles were retained for the full-text analysis. Of the remaining studies, 31 were retained for assessment, five demonstrated long-term effectiveness, eight demonstrated short-term effectiveness, and 18 demonstrated no effectiveness. The successful studies utilized a variety of different techniques in the categories of physical fitness, education, and adherence to care plans to reduce the risk of recurrent strokes. The lessons we learned from the current prevention programs included (1) offer tailored care for underserved groups, (2) control blood pressure, (3) provide opportunities for medication dosage titration, (4) establish the care plan prior to discharge, (5) invest in supervised exercise programs, (6) remove barriers to accessing care in low resource settings, and (7) improve the transition of care.
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Project description:Donor-cell derived myeloid neoplasm (DDMN), a rare complication after allogeneic hematopoietic cell transplantation (HCT), is of interest for its potential to reveal donor-derived and host-derived factors that contribute to the pathogenesis of leukemia. The accurate diagnosis of donor-derived leukemias has been facilitated by the more frequent use of molecular techniques. In this study, we describe three additional cases of DDMN; the first reported case of donor-derived chronic myelomonocytic leukemia (CMML), one acute myeloid leukemia (AML) with t(8;21)(q22;22); RUNX1-RUNX1T1 and one donor-derived MDS with deletion 5q. A review of the cytogenetic profiles of previously reported DDMN indicates a significant contribution of therapy-related myeloid neoplasms. Cases with direct evidence of donor- or recipient-dependent factors are rare; a role of direct transfer of leukemic cells, genomic instability of the donor, abnormal gene methylation in donor cells, proleukemic potential of abnormal stromal niche, and the role of immunological surveillance after transplantation has been observed. The role of additional potential pathogenetic factors that are without clinically observed evidence are also reviewed.
| S-EPMC9028156 | biostudies-literature
Project description:BackgroundThe world is witnessing an unprecedented crisis with Coronavirus disease 2019 (COVID-19). It is important to accurately analyze the available evidence to provide correct clinical guidance for optimal patient care. We aim to discuss current clinical evidence regarding chloroquine, hydroxychloroquine, azithromycin, remdesivir, and the cardiovascular burden of COVID-19.MethodsA literature review was performed using PubMed and Google Scholar. Additional clinical trials were identified through the "TrialsTracker" project.ResultsWe found conflicting evidence of chloroquine, hydroxychloroquine plus azithromycin, and remdesivir in COVID-19 despite promising early reports of in vitro antiviral activity against severe acute respiratory syndrome coronavirus 2. Some of the current studies have demonstrated adverse drug reactions to chloroquine and hydroxychloroquine + azithromycin. Widespread systemic inflammation and procoagulant/hypercoagulable state, including thrombotic microangiopathy, endothelial dysfunction, bleeding disorder, and thrombosis are increasingly being witnessed in COVID-19. Evidence of cardiac injury and stroke is mostly reported in hospitalized patients; however, large specialized studies that focus on cardiac or neuropathology are lacking.DiscussionThere is no convincing clinical evidence of chloroquine, hydroxychloroquine with or without azithromycin, and remdesivir use in COVID-19. As evidence of systemic inflammation is rapidly unfolding, there is a dire need to maximize our resources to find the best possible solutions to the current crisis while conclusive evidence from clinical trials emerges.
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Project description:Antimicrobial peptides (AMPs) or host defense peptides protect the host against various pathogens such as yeast, fungi, viruses and bacteria. AMPs also display immunomodulatory properties ranging from the modulation of inflammatory responses to the promotion of wound healing. More interestingly, AMPs cause cell disruption through non-specific interactions with the membrane surface of pathogens. This is most likely responsible for the low or limited emergence of bacterial resistance against many AMPs. Despite the increasing number of antibiotic-resistant bacteria and the potency of novel AMPs to combat such pathogens, only a few AMPs are in clinical use. Therefore, the current review describes (i) the potential of AMPs as alternatives to antibiotics, (ii) the challenges toward clinical implementation of AMPs and (iii) strategies to improve the success rate of AMPs in clinical trials, emphasizing the lessons we could learn from these trials.
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Project description:ABSTRACT A patent foramen ovale (PFO) is a frequent incidental finding during echocardiography in otherwise healthy children. In most healthy children with a diagnosis of isolated incidental PFO, no further follow-up or intervention is necessary. In some children, PFO is associated with certain clinical syndromes such as cryptogenic stroke, decompression sickness, migraine, and platypnea–orthodeoxia syndrome. This review discusses PFO anatomy, diagnostic imaging, PFO-associated clinical situations, management options, and the role of PFO in certain congenital heart disease. This review also highlights the current deficiency of pediatric data guiding management of these uncommon but important PFO-associated conditions. Future multicenter randomized controlled studies are necessary to guide the management of these unique and challenging PFO-associated conditions.
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Project description:Large-scale transcriptome and methylome data analyses obtained by high-throughput technologies have been enabling the identification of novel imprinted genes. We investigated genome-wide DNA methylation patterns in multiple human tissues, using a high-resolution microarray to uncover hemimethylated CpGs located in promoters overlapping CpG islands, aiming to identify novel candidate imprinted genes. Using our approach, we recovered ~30% of the known human imprinted genes, further 168 candidates were identified, 61 of which with at least three hemimethylated CpGs shared by more than two tissue types. Thirty-four of these candidate genes are members of the protocadherins cluster on 5q31.3; in mice, protocadherin genes have non-imprinted monoallelic randomic expression, which might be the case in humans. Among the remaining 27 genes, ZNF331 was recently validated as an imprinted gene, and six of them have been reported as candidates, supporting our prediction. Five candidates (CCDC166, ARC, PLEC, TONSL and VPS28) map to 8q24.3, and might constitute a novel imprinted cluster. Additionally, we performed a comprehensive compilation of known human and mice imprinted genes from literature and databases, and a comparison among high-throughput imprinting studies in humans. The screening for hemimethylated CpGs shared by multiple human tissues, together with the extensive review, appears as a useful approach to reveal candidate imprinted genes.
2017-09-26 | GSE103413 | GEO
Project description:BackgroundKnowledge translation platforms (KTPs), which are partnerships between policymakers, stakeholders, and researchers, are being established in low- and middle-income countries (LMICs) to enhance evidence-informed health policymaking (EIHP). This study aims to gain a better understanding of the i) activities conducted by KTPs, ii) the way in which KTP leaders, policymakers, and stakeholders perceive these activities and their outputs, iii) facilitators that support KTP work and challenges, and the lessons learned for overcoming such challenges, and iv) factors that can help to ensure the sustainability of KTPs.MethodsThis paper triangulated qualitative data from: i) 17 semi-structured interviews with 47 key informants including KTP leaders, policymakers, and stakeholders from 10 KTPs; ii) document reviews, and iii) observation of deliberations at the International Forum on EIHP in LMICs held in Addis Ababa in August 2012. Purposive sampling was used and data were analyzed using thematic analysis.ResultsDeliberative dialogues informed by evidence briefs were identified as the most commendable tools by interviewees for enhancing EIHP. KTPs reported that they have contributed to increased awareness of the importance of EIHP and strengthened relationships among policymakers, stakeholders, and researchers. Support from policymakers and international funders facilitated KTP activities, while the lack of skilled human resources to conduct EIHP activities impeded KTPs. Ensuring the sustainability of EIHP initiatives after the end of funding was a major challenge for KTPs. KTPs reported that institutionalization within the government has helped to retain human resources and secure funding, whereas KTPs hosted by universities highlighted the advantage of autonomy from political interests.ConclusionsThe establishment of KTPs is a promising development in supporting EIHP. Real-time lesson drawing from the experiences of KTPs can support improvements in the functioning of KTPs in the short term, while making the case for sustaining their work in the long term. Lessons learned can help to promote similar EIHP initiatives in other countries.
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