991 resultados para Cases


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This paper addresses the problems often faced by social workers and their supervisors in decision making where human rights considerations and child protection concerns collide. High profile court cases in the United Kingdom and Europe have consistently called for social workers to convey more clarity when justifying their reasons for interfering with human rights in child protection cases. The themes emerging from these case law decisions imply that social workers need to be better at giving reasons and evidence in more explicit ways to support any actions they propose which cause interference with Convention Rights. Toulmin (1958, 1985) offers a structured approach to argumentation which may have relevance to the supervision of child protection cases when social workers and managers are required to balance these human rights considerations. One of the key challenges in this balancing act is the need for decision makers to feel confident that any interventions resulting in the interference of human rights are both justified and proportionate. Toulmin’s work has already been shown to have relevance for assisting social workers navigate pathways through cases involving competing ethical and moral demands (Osmo and Landau, 2001) and more recently to human rights and decision making in child protection (Duffy et al, 2006). Toulmin’s model takes the practitioner through a series of stages where any argument or proposed recommendation (claim) is subjected to intense critical analysis involving exposition of its strengths and weaknesses. The author therefore proposes that explicit argumentation (Osmo and Landau, 2001) may help supervisors and practitioners towards safer and more confident decision making in child protection cases involving the interference of the human rights of children and parents. In addition to highlighting the broader context of human rights currently permeating child protection decision making, the paper will include case material to practically demonstrate the application of Toulmin’s model of argumentation to the supervision context. In this way the paper adopts a strong practice approach in helping to assist practitioners with the problems and dilemmas they may come up against in decision making in complex cases.

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This paper discusses whether or not Strasbourg organs have created principled criteria governing the use of the doctrine within the context of free speech and public morals. The first part of the paper gives an overview of the doctrine and further examines how the doctrine has evolved within the European context. Part II focuses on the rationale behind the doctrine and discusses the legitimacy of the doctrine in light of its application to various forms of free speech. Part III covers one of the most problematic applications of the doctrine in matters concerning public morality, where Contracting States have a wide margin of appreciation. This part will discuss whether or not the “lack of European consensus” criterion is an elusive concept that might create a risk of abuse in the application of the doctrine. The paper concludes that while margin of appreciation today serves as a flexible instrument between the local necessities and the universal application of human rights, the imprecise and contradictory points might lead to its potential abuse that might endanger its future existence.

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The European Court of Human Rights has now clearly established that domestic violence constitutes a human rights issue. However, there are a number of difficulties involved in using the Human Rights Act 1998 in relation to violence against women in the home. One of these obstacles is the restrictive test of standing found in the Act, which is problematic as regards an ‘unseen crime’ such as domestic violence. This article examines this test of standing and the difficulties it poses in the context of violence against women in the home. It then considers alternative models for the standing requirement and assesses whether a change in the test of standing would produce beneficial results as regards the issue of domestic violence.

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Diagnosing psychotic disorders in young people is difficult. High rates of co-morbidity may be one reason for this difficulty, but it may also be the case that current diagnostic categories are not the most useful when approaching the care of young people with psychotic symptoms. The Northern Ireland Early Onset Psychosis Study is the first study to investigate psychotic disorders in children and adolescents in this region. Young people presenting with psychotic symptoms with onset before their 18th birthday were prospectively ascertained over a three-year period (2001-2004). Those who provided informed consent were subject to a diagnostic interview using the Kiddie-Schedule for Affective Disorders and Schizophrenia - Present and Lifetime Version. Twenty-five young people have completed the full assessment process to date. Ten young people met criteria for schizophrenia, 11 for affective psychosis, two for schizoaffective disorder and two for schizophreniform disorder. Twenty-one (80%) subjects also fulfilled criteria for at least one other DSM-IV diagnosis. In conclusion, whilst all subjects met criteria for one or other psychotic disorder, co-morbidity was common in this clinical sample. Greater awareness of the difficulties encountered when trying to reach a diagnosis in this age group may help to improve treatment outcomes.

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Introduction: Amplicon deep-sequencing using second-generation sequencing technology is an innovative molecular diagnostic technique and enables a highly-sensitive detection of mutations. As an international consortium we had investigated previously the robustness, precision, and reproducibility of 454 amplicon next-generation sequencing (NGS) across 10 laboratories from 8 countries (Leukemia, 2011;25:1840-8).

Aims: In Phase II of the study, we established distinct working groups for various hematological malignancies, i.e. acute myeloid leukemia (AML), acute lymphoblastic leukemia (ALL), chronic lymphocytic leukemia (CLL), chronic myelogenous leukemia (CML), myelodysplastic syndromes (MDS), myeloproliferative neoplasms (MPN), and multiple myeloma. Currently, 27 laboratories from 13 countries are part of this research consortium. In total, 74 gene targets were selected by the working groups and amplicons were developed for a NGS deep-sequencing assay (454 Life Sciences, Branford, CT). A data analysis pipeline was developed to standardize mutation interpretation both for accessing raw data (Roche Amplicon Variant Analyzer, 454 Life Sciences) and variant interpretation (Sequence Pilot, JSI Medical Systems, Kippenheim, Germany).

Results: We will report on the design, standardization, quality control aspects, landscape of mutations, as well as the prognostic and predictive utility of this assay in a cohort of 8,867 cases. Overall, 1,146 primer sequences were designed and tested. In detail, for example in AML, 924 cases had been screened for CEBPA mutations. RUNX1 mutations were analyzed in 1,888 cases applying the deep-sequencing read counts to study the stability of such mutations at relapse and their utility as a biomarker to detect residual disease. Analyses of DNMT3A (n=1,041) were focused to perform landscape investigations and to address the prognostic relevance. Additionally, this working group is focusing on TET2, ASXL1, and TP53 analyses. A novel prognostic model is being developed allowing stratification of AML into prognostic subgroups based on molecular markers only. In ALL, 1,124 pediatric and adult cases have been screened, including 763 assays for TP53 mutations both at diagnosis and relapse of ALL. Pediatric and adult leukemia expert labs developed additional content to study the mutation incidence of other B and T lineage markers such as IKZF1, JAK2, IL7R, PAX5, EP300, LEF1, CRLF2, PHF6, WT1, JAK1, PTEN, AKT1, IL7R, NOTCH1, CREBBP, or FBXW7. Further, the molecular landscape of CLL is changing rapidly. As such, a separate working group focused on analyses including NOTCH1, SF3B1, MYD88, XPO1, FBXW7 and BIRC3. Currently, 922 cases were screened to investigate the range of mutational burden of NOTCH1 mutations for their prognostic relevance. In MDS, RUNX1 mutation analyses were performed in 977 cases. The prognostic relevance of TP53 mutations in MDS was assessed in additional 327 cases, including isolated deletions of chromosome 5q. Next, content was developed targeting genes of the cellular splicing component, e.g. SF3B1, SRSF2, U2AF1, and ZRSR2. In BCR-ABL1-negative MPN, nine genes of interest (JAK2, MPL, TET2, CBL, KRAS, EZH2, IDH1, IDH2, ASXL1) have been analyzed in a cohort of 155 primary myelofibrosis cases searching for novel somatic mutations and addressing their relevance for disease progression and leukemia transformation. Moreover, an assay was developed and applied to CMML cases allowing the simultaneous analysis of 25 leukemia-associated target genes in a single sequencing run using just 20 ng of starting DNA. Finally, nine laboratories are studying CML, applying ultra-deep sequencing of the BCR-ABL1 tyrosine kinase domain. Analyses were performed on 615 cases investigating the dynamics of expansion of mutated clones under various tyrosine kinase inhibitor therapies.

Conclusion: Molecular characterization of hematological malignancies today requires high diagnostic sensitivity and specificity. As part of the IRON-II study, a network of laboratories analyzed a variety of disease entities applying amplicon-based NGS assays. Importantly, the consortium not only standardized assay design for disease-specific panels, but also achieved consensus on a common data analysis pipeline for mutation interpretation. Distinct working groups have been forged to address scientific tasks and in total 8,867 cases had been analyzed thus far.

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Purpose: The authors present the unique clinical features of cavitary uveal melanoma. Design: Retrospective chart review. Participants: Eight patients with cavitary uveal melanoma. Main Outcome Measures: The clinical, ultrasonographic, and histopathologic features of eight patients with cavitary melanoma of the ciliary body were studied. Results: In all eyes there was a brown ciliary body mass that blocked transmission of light on trans-scleral transillumination. Ocular ultrasonography revealed a large, single hollow cavity (unilocular 'pseudocyst') in five cases and multiple hollow cavities (multilocular 'pseudocyst') in three cases. The cavity occupied a mean of 55% of the entire mass thickness (range, 31%-79%). In five cases, a basal uveal mass was noted on ultrasonography. Four patients underwent tumor resection; one had enucleation, and three had 1251 radioactive plaque treatment. In the five cases confirmed histopathologically, the cavitation was empty, contained erythrocytes, serous fluid, and/or pigment-laden macrophages. In no case was the cavity lined by necrotic tumor, endothelial cells, or epithelial cells. Conclusion: Ciliary body melanoma can develop an intralesional cavity resembling an intraocular cyst. The presence of a solid mass at the base and a thick wall surrounding the cavity can assist in the differentiation of cavitary melanoma from benign cyst.

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Objective: To describe clinical characteristics, management, and complications of primary iris stromal cysts. Design: A retrospective review. Results: Seventeen consecutive patients with primary iris stromal cysts were found. Nine (52%) patients were diagnosed under age 10 years (range, 1 day-7 years), and eight (47%) patients were diagnosed after age 10 years (range, 14-71 years). Overall, the cyst appeared unilaterally as a solitary clear translucent mass dissecting the iris stroma in all cases. The children with a primary iris stromal cyst demonstrated a more aggressive course than teenagers or adults. In children, the cyst obstructed the visual axis in eight cases (88%), requiring treatment such as aspiration, cryotherapy, and resection. In seven children, multiple treatments were necessary. Ultimate control of the cyst was achieved in all cases using techniques of needle aspiration (with or without cryotherapy) in three cases and using resection in five cases. Primary iris stromal cysts in teenagers and adults necessitated intervention in only two cases (25%). Conclusion: Primary iris stromal cysts can occur in children, teenagers, and adults. In children, primary stromal iris cysts appear to have a more aggressive clinical course, often requiring several treatments for globe and vision preservation.

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Objective: The authors evaluated the results of primary transpupillary thermotherapy for choroidal melanoma in 100 cases. Design: Prospective nonrandomized analysis of treatment method. Participants: One hundred patients with choroidal melanoma were studied. Main Outcome Measures: Tumor response, ocular side effects, and visual results. Results: Of 100 consecutive patients with choroidal melanoma treated with transpupillary thermotherapy, the mean tumor basal diameter was 7.1 mm and tumor thickness was 2.8 mm. The tumor margin touched the optic disc in 34 eyes (34%) and was beneath the fovea in 42 eyes (42%). Documented growth was present in 64 eyes (64%), and known clinical risks for growth were present in all of the remaining 36 eyes (36%), with an average of 4 of 5 statistical risk factors for growth per tumor. After a mean of three treatment sessions and 14 months of follow-up, the mean tumor thickness was reduced to 1.4 mm. Treatment was successful in 94 eyes (94%) and failed in 6 eyes (6%). Three patients with amelanotic tumors showed no initial response to thermotherapy, but subsequent intravenous indocyanine green administration during thermotherapy resulted in improved heat absorption and tumor regression to a flat scar. The six eyes classified as treatment failures included four eyes with tumors that showed partial or no response to thermotherapy, thus requiring plaque radiotherapy or enucleation, and two eyes with recurrence, subsequently controlled with additional thermotherapy. After treatment, the visual acuity was the same (within 1 line) or better than the pretreatment visual acuity in 58 eyes (58%) and worse in 42 eyes (42%). The main reasons for poorer vision included treatment through the foveola for subfoveal tumor (25 eyes), retinal traction (10 eyes), retinal vascular obstruction (5 eyes), optic disc edema (1 eye), and unrelated ocular ischemia (1 eye). Temporal location (versus nasal and superior, P = 0.02) and greater distance from the optic disc (P = 0.04) were risks for retinal traction. Conclusions: Transpupillary thermotherapy may be an effective treatment for small posterior choroidal melanoma, especially those near the optic disc and fovea. Despite satisfactory local tumor control, ocular side effects can result in decreased vision. Longer follow- up will be necessary to assess the impact of thermotherapy on ultimate local tumor control and metastatic disease.

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