Long QT syndrome (LQTS) is closely associated with syncope, seizure, and sudden death but LQTS is frequently misdiagnosed as epilepsy. LQTS and epilepsy both belong to the group of ion channelopathies that manifest in the heart and brain. Therefore, genetic analysis of genes associated with potassium and sodium homeostasis and electrical disorders may reveal a link between epilepsy and lethal cardiac arrhythmia. Here, the authors report a young woman who suffered recurrent seizure episodes and syncopes that occurred while walking and also during rest. She showed electroencephalogram abnormalities and a pathological prolonged QTc interval in electrocardiogram. The patient and the patient's asymptomatic family members underwent genetic screening of the three genes most frequently associated with LQTS: KCNQ1, KCNH2, and SCN5A. The patient and the family members did not show DNA alterations in the genes KCNQ1 and SCN5A associated with LQT-1 and LQT-3, respectively. However, the patient showed a de novo mutation 2587T→C in exon 10 of KCNH2 gene associated with LQT-2. The mutation caused a stop codon substitution (R863X) in the HERG channel, leading to a 296-amino acid deletion. The patient's asymptomatic relatives did not show the KCNH2 gene mutation. R863X alteration in HERG channel may be involved in both prolonged QTc interval and epilepsy. This fact raises the possibility that R863X alteration in KCNH2-encoded potassium channel may confer susceptibility for epilepsy and cardiac LQT-2 arrhythmia.
Background: Malignancy-associated bleeding can pose diagnostic dilemmas. We report a unique case of paraneoplastic acquired hemophilia A (AHA), immune thrombocytopenia (ITP), and immune neutropenia in a patient with pancreatic adenocarcinoma.Case Presentation: A 66-year-old male with newly diagnosed pancreatic cancer and normal preoperative hematological evaluation was taken to the operating room for pancreaticoduodenectomy. The operation was aborted due to empyema of the gall bladder, cholangitis, and local extent of disease. Postoperatively, the patient developed bleeding diatheses with mucocutaneous and intra-abdominal bleeding and a prolonged activated partial thromboplastin time. Evaluation revealed high-titer factor VIII inhibitor confirming AHA. Management with bypassing agents such as recombinant activated factor VII, factor VIII inhibitor bypassing activity, and immunosuppression with steroids, cyclophosphamide, and rituximab achieved remission in 2 months. ITP developed after achieving normal factor VIII levels, which was managed with intravenous immunoglobulin. Neutropenia was detected before initiation of chemotherapy and was managed with granulocyte-colony stimulating factor.Conclusion: These unique challenges posed by paraneoplastic hematological syndromes warrant the need for astute clinical judgment and multidisciplinary collaboration for effective management.
who showed me the joy of an inquiring mind, and Professor Witold Krajewski, who inspired me to address my scientific questions with discipline and passion. I want to thank the University of Iowa and the Iowa Flood Center for providing the perfect environment for a scientific mindset.
Resumen: La ética del cuidado es un constructo teórico y práctico que busca resaltar la vinculación esencialmente humana y emocional entre el profesional de la salud y el paciente. En este artículo se propone su instrumentación en el campo de la salud sexual y, principalmente, en la difusión y establecimiento de los derechos sexuales. Dicha estrategia está orientada a propiciar el diálogo bioético entre los profesionales de la salud y las personas que reciben su cuidado, puesto que la reciprocidad de conocimientos e información genera empatía y trato humanizado. Se consideran la definición de salud sexual, la declaración de los Derechos Sexuales y la ética de la sexualidad como elementos que se integran finalmente en la ética del cuidado de las personas que acuden a los servicios de salud en el contexto latinoamericano.Palabras clave: ética del cuidado, ética de la sexualidad, salud sexual, derechos sexuales ETHICS OF CARE IN SEXUAL AND REPRODUCTIVE HEALTH CONTEXTAbstract: Ethics of care is a theoretical and practical construct which highlights the essentially human and emotional bond between the health care professional and the patient. This essay emphasizes its application to the field of reproductive health and, mainly, to the dissemination and setting of the reproductive rights. Such strategy is oriented towards allowing a bioethics dialogue among health care professionals and whoever receives their care, since knowledge and information reciprocity generates empathy and humane treatment. The definition of sexual health, the Declaration of Sexual Rights and sexual ethics are considered integrated elements in the ethics of care for those looking for health care services in the Latin American context. Key words: ethics of care, ethics of sexuality, reproductive health, reproductive rightsA ÉTICA DO CUIDADO NO CONTEXTO DA SAÚDE SEXUAL E REPRODUTIVA Resumo: A ética do cuidado é um construto teórico e prático que busca ressaltar a vinculação essencialmente humana e emocional entre o profissional da saúde e o doente. Neste artigo se propõe sua instrumentalização no campo da saúde sexual e, principalmente, na difusão e estabelecimento dos direito sexuais. Tal estratégia orienta-se na perspectiva de propiciar o diálogo bioético entre os profissionais de saúde e as pessoas que recebem seu cuidado, posto que a reciprocidade de conhecimentos e informação gera empatia e trato humanizado no cuidado em saúde. São consideradas a definição de saúde sexual, a declaração dos Direitos Sexuais e a ética da sexualidade, como elementos que se integram finalmente na ética do cuidado, das pessoas que procuram os serviços de saúde no contexto latinoamericano.Palavras-chave: ética do cuidado, ética da sexualidade, saúde sexual, direitos sexuais
La articulación temática entre bioética y estudios de género resulta evidente, además de vigente, en el análisis de las llamadas terapias reparativas para la "corrección" o cambio de la orientación homosexual. En este artículo se exponen los elementos básicos que, a manera de insumos, permiten el diálogo bioético sobre este asunto. Se exponen los fundamentos de la orientación sexual y su reconocimiento como un derecho humano. Además, se toman algunos elementos teóricos respecto del empleo del poder médico como mecanismo de domesticación. En la parte final se analizan algunas características de las terapias reparativas y se exponen las razones que no hacen éticamente sustentable su aplicación.
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