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2.
Genet Med ; 2019 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-31363182

RESUMO

PURPOSE: Kabuki syndrome (KS) (OMIM 147920 and 300867) is a rare genetic disorder characterized by specific facial features, intellectual disability, and various malformations. Immunopathological manifestations seem prevalent and increase the morbimortality. To assess the frequency and severity of the manifestations, we measured the prevalence of immunopathological manifestations as well as genotype-phenotype correlations in KS individuals from a registry. METHODS: Data were for 177 KS individuals with KDM6A or KMT2D pathogenic variants. Questionnaires to clinicians were used to assess the presence of immunodeficiency and autoimmune diseases both on a clinical and biological basis. RESULTS: Overall, 44.1% (78/177) and 58.2% (46/79) of KS individuals exhibited infection susceptibility and hypogammaglobulinemia, respectively; 13.6% (24/177) had autoimmune disease (AID; 25.6% [11/43] in adults), 5.6% (10/177) with ≥2 AID manifestations. The most frequent AID manifestations were immune thrombocytopenic purpura (7.3% [13/177]) and autoimmune hemolytic anemia (4.0% [7/177]). Among nonhematological manifestations, vitiligo was frequent. Immune thrombocytopenic purpura was frequent with missense versus other types of variants (p = 0.027). CONCLUSION: The high prevalence of immunopathological manifestations in KS demonstrates the importance of systematic screening and efficient preventive management of these treatable and sometimes life-threatening conditions.

3.
Plast Reconstr Surg ; 143(6): 1747-1758, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30907816

RESUMO

BACKGROUND: The submental flap is a pedicled island flap with excellent color match for facial reconstruction. The flap can be raised with muscle, submandibular gland, or bone and can be transposed to reach defects up to two-thirds of the face. The authors report the primary author's (D.M.) experience of 25 years using the submental flap from its original description to most recent technical evolutions in both Europe and Africa. METHODS: This is a retrospective study including all patients with facial defects who underwent reconstruction using a submental flap between 1991 and 2016. This study included the use of all four variations of the submental flap: platysmal, digastric, extended, and superextended. The authors report technical adaptations and complications encountered. RESULTS: The authors performed 311 facial reconstructions using submental flaps: 32 platysmal, 133 digastric, 91 extended, and 45 superextended variations. In conjunction with these reconstructions, the authors performed 10 osteocutaneous submental flaps and two free flaps. The authors report two cases of total flap necrosis (0.6 percent) and 28 minor complications, including 23 cases of distal skin necrosis (7 percent), one reversible mandibular facial nerve palsy (0.3 percent), and three hematomas (1 percent). CONCLUSIONS: The submental flap has proven to be a reliable flap for head and neck reconstruction. The four technical modifications described use varying amounts of soft tissue to replace tissue lost and can include vascularized bone from the mandibular margin. This flap exemplifies Gillies' principle of "replacing like with like" and should be discussed as an alternative to free tissue transfer in facial reconstruction, especially in settings where resources are limited. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.


Assuntos
Face/cirurgia , Retalhos de Tecido Biológico , Procedimentos Cirúrgicos Reconstrutivos/métodos , Transplante de Pele/métodos , Adulto , África , Criança , Queixo , Europa (Continente) , Neoplasias Faciais/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Noma/cirurgia , Procedimentos Cirúrgicos Reconstrutivos/tendências , Estudos Retrospectivos , Transplante de Pele/tendências , Coleta de Tecidos e Órgãos/métodos , Coleta de Tecidos e Órgãos/tendências , Técnicas de Fechamento de Ferimentos/tendências
5.
Kidney Int ; 95(4S): S1-S33, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30904051

RESUMO

The global nephrology community recognizes the need for a cohesive strategy to address the growing problem of end-stage kidney disease (ESKD). In March 2018, the International Society of Nephrology hosted a summit on integrated ESKD care, including 92 individuals from around the globe with diverse expertise and professional backgrounds. The attendees were from 41 countries, including 16 participants from 11 low- and lower-middle-income countries. The purpose was to develop a strategic plan to improve worldwide access to integrated ESKD care, by identifying and prioritizing key activities across 8 themes: (i) estimates of ESKD burden and treatment coverage, (ii) advocacy, (iii) education and training/workforce, (iv) financing/funding models, (v) ethics, (vi) dialysis, (vii) transplantation, and (viii) conservative care. Action plans with prioritized lists of goals, activities, and key deliverables, and an overarching performance framework were developed for each theme. Examples of these key deliverables include improved data availability, integration of core registry measures and analysis to inform development of health care policy; a framework for advocacy; improved and continued stakeholder engagement; improved workforce training; equitable, efficient, and cost-effective funding models; greater understanding and greater application of ethical principles in practice and policy; definition and application of standards for safe and sustainable dialysis treatment and a set of measurable quality parameters; and integration of dialysis, transplantation, and comprehensive conservative care as ESKD treatment options within the context of overall health priorities. Intended users of the action plans include clinicians, patients and their families, scientists, industry partners, government decision makers, and advocacy organizations. Implementation of this integrated and comprehensive plan is intended to improve quality and access to care and thereby reduce serious health-related suffering of adults and children affected by ESKD worldwide.

7.
Transplantation ; 102(1): e2-e9, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29019810

RESUMO

Eradicating transplant tourism depends on complex solutions that include efforts to progress towards self-sufficiency in transplantation. Meanwhile, professionals and authorities are faced with medical, legal, and ethical problems raised by patients who return home after receiving an organ transplant abroad, particularly when the organ has been obtained through illegitimate means. In 2016, the Declaration of Istanbul Custodian Group convened an international, multidisciplinary workshop in Madrid, Spain, to address these challenges and provide recommendations for the management of these patients, which are presented in this paper. The core recommendations are grounded in the belief that principles of transparency, traceability, and continuity of care applied to patients who receive an organ domestically should also apply to patients who receive an organ abroad. Governments and professionals are urged to ensure that, upon return, patients are promptly referred to a transplant center for evaluation and care, not cover the costs of transplants resulting from organ or human trafficking, register standardized information at official registries on patients who travel for transplantation, promote international exchange of data for traceability, and develop a framework for the notification of identified or suspected cases of transnational transplant-related crimes by health professionals to law enforcement agencies.


Assuntos
Continuidade da Assistência ao Paciente , Turismo Médico , Transplante de Órgãos , Humanos , Obtenção de Tecidos e Órgãos
8.
Lancet ; 390(10099): 1024-1025, 2017 09 09.
Artigo em Inglês | MEDLINE | ID: mdl-28901933
9.
J Med Philos ; 42(5): 537-558, 2017 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-28922903

RESUMO

Public surveys conducted in many countries report widespread willingness of individuals to donate a kidney while alive to a family member or close friend, yet thousands suffer and many die each year while waiting for a kidney transplant. Advocates of financial incentive programs or "regulated markets" in kidneys present the problem of the kidney shortage as one of insufficient public motivation to donate, arguing that incentives will increase the number of donors. Others believe the solutions lie-at least in part-in facilitating so-called "altruistic donation;" harnessing the willingness of relatives and friends to donate by addressing the many barriers which serve as disincentives to living donation. Strategies designed to minimize financial barriers to donation and the use of paired kidney exchange programs are increasingly enabling donation, and now, an innovative program designed to address what has been termed "chronologically incompatible donation" is being piloted at the University of California, Los Angeles, and elsewhere in the United States. In this program, a person whose kidney is not currently required for transplantation in a specific recipient may instead donate to the paired exchange program; in return, a commitment is made to the specified recipient that priority access for a living-donor transplant in a paired exchange program will be offered when or if the need arises in the future. We address here potential ethical concerns related to this form of organ "banking" from living donors, and argue that it offers significant benefits without undermining the well-established ethical principles and values currently underpinning living donation programs.


Assuntos
Altruísmo , Rim , Doadores Vivos/ética , Temas Bioéticos , Doação Dirigida de Tecido/ética , Família , Humanos , Transplante de Rim/ética , Transplante de Rim/estatística & dados numéricos , Princípios Morais , Obtenção de Tecidos e Órgãos , Estados Unidos
10.
AJOB Empir Bioeth ; 8(2): 99-105, 2017 Apr-Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28949839

RESUMO

BACKGROUND: Clinical research is increasingly being undertaken in primary care settings. This development offers both benefits and challenges. The ethical challenges of occupying the roles of both clinician and researcher may be accentuated in primary care settings, where relationships are longer lasting and medical conditions are less acute. This article examines primary care physicians' experiences of undertaking research, particularly their decision making about recruiting patients in the context of their own dual roles. METHODS: This project comprised in-depth interviews with eight Australian primary care physicians working in general or specialist practices that were involved in clinical research. Data were analyzed using inductive thematic analysis. RESULTS: Physicians involved in recruiting their patients into clinical trials acted as gatekeepers; they were selective about which patients to recruit and did not necessarily approach all patients who met the research eligibility criteria. Physicians' accounts suggested they prioritized their clinician role over their researcher role. In addition to the rigor and merit of the research, physicians considered the possible benefit of trial participation for individual patients. Physicians described making recruitment decisions based on their perceived knowledge of patients' personal, behavioral, and attitudinal characteristics-often derived from their long-standing relationships with their patients. CONCLUSION: Our data show evidence of gatekeeping by primary care physicians when deciding to participate in, and recruit their patients to, clinical studies. We argue that such gatekeeping is a way of addressing the dual and sometimes conflicting roles of clinician and researcher. It need not be ethically problematic, but primary care physicians should be reflexive about their recruitment practices and biases. In addition, this form of gatekeeping should be explicitly recognized in protocol design and the analysis of trial findings.


Assuntos
Atitude do Pessoal de Saúde , Pesquisa Biomédica/ética , Tomada de Decisões/ética , Controle de Acesso , Seleção de Pacientes/ética , Médicos de Atenção Primária/psicologia , Pesquisadores/psicologia , Austrália , Ética em Pesquisa , Feminino , Humanos , Masculino , Relações Médico-Paciente , Médicos de Atenção Primária/ética , Pesquisa Qualitativa , Pesquisadores/ética
11.
Lancet ; 389(10081): 1851-1856, 2017 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-28238456

RESUMO

Treatment for end-stage kidney disease is a major economic challenge and a public health concern worldwide. Renal-replacement therapy poses several practical and ethical dilemmas of global relevance for patients, clinicians, and policy makers. These include how to: promote patients' best interests; increase access to dialysis while maintaining procedural and distributive justice; minimise the influence of financial incentives and competing interests; ensure quality of care in service delivery and access to non-dialytic supportive care when needed; minimise the financial burden on patients and health-care system; and protect the interests of vulnerable groups during crisis situations. These issues have received comparatively little attention, and there is scant ethical analysis and guidance available to decision makers. In this Health Policy, we provide an overview of the major ethical issues related to dialysis provision worldwide, identify priorities for further investigation and management, and present preliminary recommendations to guide practice and policy.


Assuntos
Falência Renal Crônica/economia , Diálise Renal/ética , Terapia de Substituição Renal/ética , Tomada de Decisões/ética , Assistência à Saúde/economia , Assistência à Saúde/ética , Política de Saúde/legislação & jurisprudência , Humanos , Falência Renal Crônica/terapia , Guias de Prática Clínica como Assunto/normas , Saúde Pública , Qualidade da Assistência à Saúde/normas
12.
Cornea ; 36(2): 252-257, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28060077

RESUMO

PURPOSE: To review ethical issues that may arise in the setting of transnational eye banking activities, such as when exporting or importing corneal tissue for transplantation. METHODS: A principle-based normative analysis of potential common dilemmas in transnational eye banking activities was performed. RESULTS: Transnational activities in eye banking, like those in other fields involving procurement and use of medical products of human origin, may present a number of ethical issues for policy makers and professionals. Key ethical concerns include the potential impact of export or import activities on self-sufficiency of corneal tissue supply within exporting and importing countries; potential disclosure requirements when obtaining consent or authorization for ocular tissue donation when donations may be exported; and difficulties inherent in assuring equity in the allocation of tissues available for export and in establishing and respecting standards of safety and quality across different jurisdictions. CONCLUSIONS: Further analysis of specific ethical issues in eye banking is necessary to inform development of guidelines and other governance tools that will assist policy makers and professionals to support ethical practice.


Assuntos
Córnea , Transplante de Córnea , Bancos de Olhos/ética , Ética Médica , Bancos de Olhos/organização & administração , Bancos de Olhos/normas , Saúde Global , Guias como Assunto , Humanos , Consentimento Livre e Esclarecido , Garantia da Qualidade dos Cuidados de Saúde/normas , Alocação de Recursos , Doadores de Tecidos , Obtenção de Tecidos e Órgãos
14.
J Med Ethics ; 42(12): 805-808, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27733438

RESUMO

Ethical concerns about therapeutic misconception have been raised since the early 1980s. This concept was originally described as research participants' assumptions that decisions relating to research interventions are made on the basis of their individual therapeutic needs. The term has since been used to refer to a range of 'misunderstandings' that research participants may have. In this paper, we describe a new concept-therapeutic appropriation Therapeutic appropriation occurs when patients, or clinicians, actively reframe research participation as an opportunity to enhance patients' clinical care, while simultaneously acknowledging the generalised research aims. To illustrate the concept of therapeutic appropriation, we draw on data from an interview study which we conducted to investigate the experiences of patients and general practitioners involved in clinical trials in primary care. We argue that therapeutic appropriation has two key elements: comprehension that the research project is not necessarily aiming to benefit participants and the deliberate use of incidental features of the research for personal therapeutic benefit of various kinds. We conclude that therapeutic appropriation is a useful concept that refines understanding of potential ethical problems in clinical research, and points to strategies to address them.


Assuntos
Pesquisa Biomédica/ética , Assistência à Saúde , Consentimento Livre e Esclarecido , Intenção , Projetos de Pesquisa , Mal-Entendido Terapêutico , Compreensão , Formação de Conceito , Ética em Pesquisa , Acesso aos Serviços de Saúde , Humanos , Atenção Primária à Saúde , Sujeitos da Pesquisa , Inquéritos e Questionários
15.
Transplantation ; 100(9): 2006-9, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27355820

RESUMO

Governmental and private programs that pay next of kin who give permission for the removal of their deceased relative's organs for transplantation exist in a number of countries. Such payments, which may be given to the relatives or paid directly for funeral expenses or hospital bills unrelated to being a donor, aim to increase the rate of donation. The Declaration of Istanbul Custodian Group-in alignment with the World Health Organization Guiding Principles and the Council of Europe Convention Against Trafficking in Human Organs-has adopted a new policy statement opposing such practices. Payment programs are unwise because they produce a lower rate of donations than in countries with voluntary, unpaid programs; associate deceased donation with being poor and marginal in society; undermine public trust in the determination of death; and raise doubts about fair allocation of organs. Most important, allowing families to receive money for donation from a deceased person, who is at no risk of harm, will make it impossible to sustain prohibitions on paying living donors, who are at risk. Payment programs are also unethical. Tying coverage for funeral expenses or healthcare costs to a family allowing organs to be procured is exploitative, not "charitable." Using payment to overcome reluctance to donate based on cultural or religious beliefs especially offends principles of liberty and dignity. Finally, while it is appropriate to make donation "financially neutral"-by reimbursing the added medical costs of evaluating and maintaining a patient as a potential donor-such reimbursement may never be conditioned on a family agreeing to donate.


Assuntos
Compensação e Reparação , Conflito de Interesses/economia , Família , Doadores de Tecidos , Obtenção de Tecidos e Órgãos/economia , Causas de Morte , Compensação e Reparação/ética , Humanos , Motivação , Opinião Pública , Doadores de Tecidos/ética , Obtenção de Tecidos e Órgãos/ética
16.
Indian J Med Ethics ; 1(3): 180-3, 2016 Jul-Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27178671

RESUMO

In India, as in most countries where trade in human organs is legally prohibited, policies governing transplantation from living donors are designed to identify and exclude prospective donors who have a commercial interest in donation. The effective implementation of such policies requires resources, training and motivation on the part of health professionals responsible for organ procurement and transplantation. If professionals are unconvinced by or unfamiliar with the ethical justification of the relevant laws and policies, they may fail to perform a robust evaluation of prospective donors and transplant candidates, and to act on suspicions or evidence of illicit activities. I comment here on a recent paper by Aggarwal and Adhikary (2016), in which the authors imply that tolerance of illicit commercialism in living kidney donation programmes is not unreasonable, given the insufficiency of kidneys available for transplantation. I argue that such tolerance is unethical not only because of the harmful consequences of kidney trafficking, but because professional tolerance of commercialism undermines public trust in organ procurement programmes and impairs the development of sustainable donation and transplant systems.


Assuntos
Doadores de Tecidos/ética , Obtenção de Tecidos e Órgãos , Humanos , Índia , Transplante de Rim/ética , Doadores Vivos/ética , Estudos Prospectivos
17.
Orphanet J Rare Dis ; 11: 2, 2016 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-26754025

RESUMO

BACKGROUND: We report here selected findings from a mixed-methods study investigating the role of Australian rare disease patient organisations (RDPOs) in research. Despite there being many examples of RDPOs that have initiated and supported significant scientific advances, there is little information - and none at all in Australia - about RDPOs generally, and their research-related goals, activities, and experiences. This information is a pre-requisite for understanding what RDPOs bring to research and how their involvement could be strengthened. METHODS: We reviewed 112 RDPO websites, conducted an online survey completed by 61 organisational leaders, and interviewed ten leaders and two key informants. Quantitative and qualitative data were analysed using basic descriptive statistics and content analysis, respectively. RESULTS: Although most are small volunteer-based groups, more than 90% of the surveyed RDPOs had a goal to promote or support research on the diseases affecting their members. Nearly all (95 %) had undertaken at least one research-related activity - such as providing funding or other support to researchers - in the previous five years. However, RDPO leaders reported considerable challenges in meeting their research goals. Difficulties most frequently identified were insufficient RDPO resources, and a perceived lack of researchers interested in studying their diseases. Other concerns included inadequate RDPO expertise in governing research "investments", and difficulty engaging researchers in the organisation's knowledge and ideas. We discuss these perceived challenges in the light of two systemic issues: the proliferation of and lack of collaboration between RDPOs, and the lack of specific governmental policies and resources supporting rare disease research and patient advocacy in Australia. CONCLUSION: This study provides unique information about the experiences of RDPOs generally, rather than experiences retrospectively reported by RDPOs associated with successful research. We describe RDPOs' valuable contributions to research, while also providing insights into the difficulties for small organisations trying to promote research. The study is relevant internationally because of what it tells us about RDPOs; however, we draw attention to specific opportunities in Australia to support RDPOs' involvement in research, for the benefit of current and future generations affected by rare diseases.


Assuntos
Defesa do Paciente , Doenças Raras , Austrália , Política de Saúde , Humanos , Inquéritos e Questionários
18.
Transplantation ; 100(8): 1776-84, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-26528771

RESUMO

BACKGROUND: Many nations are able to prosecute transplant-related crimes committed in their territory, but transplant recipients, organ sellers and brokers, and transplant professionals may escape prosecution by engaging in these practices in foreign locations where they judge the risk of criminal investigation and prosecution to be remote. METHODS: The Declaration of Istanbul Custodian Group convened an international working group to evaluate the possible role of extraterritorial jurisdiction in strengthening the enforcement of existing laws governing transplant-related crimes across national boundaries. Potential practical and ethical concerns about the use of extraterritorial jurisdiction were examined, and possible responses were explored. RESULTS: Extraterritorial jurisdiction is a legitimate tool to combat transplant-related crimes. Further, development of a global registry of transnational transplant activities in conjunction with a standardized international referral system for legitimate travel for transplantation is proposed as a mechanism to support enforcement of national and international legal tools. CONCLUSIONS: States are encouraged to include provisions on extraterritorial jurisdiction in their laws on transplant-related crimes and to collaborate with professionals and international authorities in the development of a global registry of transnational transplant activities. These actions would assist in the identification and evaluation of illicit activities and provide information that would help in developing strategies to deter and prevent them.


Assuntos
Política de Saúde/legislação & jurisprudência , Cooperação Internacional , Turismo Médico/legislação & jurisprudência , Tráfico de Órgãos/prevenção & controle , Transplante de Órgãos/legislação & jurisprudência , Formulação de Políticas , Doadores de Tecidos/legislação & jurisprudência , Atitude do Pessoal de Saúde , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Imperícia/legislação & jurisprudência , Turismo Médico/ética , Tráfico de Órgãos/ética , Tráfico de Órgãos/legislação & jurisprudência , Transplante de Órgãos/ética , Papel do Médico , Má Conduta Profissional/legislação & jurisprudência , Sistema de Registros , Doadores de Tecidos/ética , Doadores de Tecidos/provisão & distribução , Revelação da Verdade
20.
Am J Kidney Dis ; 66(3): 389-95, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26060182

RESUMO

In the face of the perceived failure of altruistic organ donation programs to generate sufficient kidneys to meet demand, introducing financial incentives for living donors is sometimes argued as the only effective strategy by which lives currently lost while awaiting kidney transplantation might be saved. This argument from life-saving necessity is implicit in many incentive proposals, but rarely challenged by opponents. The core empirical claims on which it rests are thus rarely interrogated: that the gap between supply of and demand for donor kidneys is large and growing, the current system cannot meet demand, and financial incentives would increase the overall supply of kidneys and thus save lives. We consider these claims in the context of the United States. While we acknowledge the plausibility of claims that incentives, if sufficiently large, may successfully recruit greater numbers of living donors, we argue that strategies compatible with the existing altruistic system may also increase the supply of kidneys and save lives otherwise lost to kidney failure. We conclude that current appeals to the life-saving necessity argument have yet to establish sufficient grounds to justify trials of incentives.


Assuntos
Altruísmo , Apoio Financeiro , Transplante de Rim/economia , Doadores Vivos/psicologia , Humanos , Doadores Vivos/estatística & dados numéricos , Motivação , Doadores de Tecidos/provisão & distribução , Obtenção de Tecidos e Órgãos/economia , Obtenção de Tecidos e Órgãos/organização & administração
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