Neurofibromatosis type 1: natural history and impact on quality of life

Neurofibromatosis Type 1 (NF1, von Recklinghausen’s disease) is among the more common autosomal dominant genetic disorders, with a worldwide incidence of approximately 1 in 3000 live births. NF1 can occur as either an inherited defect or as a spontaneous “de novo” mutation. NFI is caused by mutation of the neurofibromin gene that leads to a lack of neurofibromin in the cytoplasm of the cell. Neurofibromin, among other cytoplasmic roles, is a key regulator of certain cellular growth pathways. There is currently no cure for NF1. The disorder has an almost 100% penetrance, but is widely variable in its manifestation. NF1 is a progressive multisystem disorder, and the clinical manifestations tend to worsen with advancing age. NF1 typically manifests as multiple benign skin tumors (neurofibromas), café-au-lait spots, axillary freckles, optical nerve gliomas, iris hamartomas (Lisch nodules), learning disabilities, speech impairment, and orthopedic and cardiovascular problems. More severe manifestations can cause vision loss, headaches, seizures, chronic pain, and orthopedic problems limiting physical activity. Patients with NF1 are four times more likely to develop malignancies than the general population. Several studies have shown that NF1 impairs the patient’s quality of life through association with more severe complications, impacts on the patient’s appearance, and through learning disabilities and depression. In both mild and severe cases, there seemed to be an equal emotional impact on the patient. The psychosocial impact manifests in various ways, including loss of confidence and self-esteem. This can stem from insecurity due to an underlying learning disability or insecurity due to NF1-related cosmetic damage. The academic and emotional damage that follow the learning disability or the lack of confidence, if not treated with appropriate therapy, can go on to impact the patient’s relationships and career. The patient may suffer from social exclusion, financial hardship and inability to obtain health insurance. Patients may be unwilling to have children out of fear of passing on the mutation. This thesis seeks to present in detail the impacts on quality of life that neurofibromatosis causes, and discuss current management and treatment strategies that exist and what can be done further to improve these people’s lives. Early individualized treatment is necessary to achieve better outcomes. Support groups can help educate NF1 patients and their family members and may help alleviate stress. Widespread public education about the condition would help remove the public stigma of Nf1, and allow for patients to feel normal and valued in society. Early individualized treatment is necessary to achieve better outcomes

Widening the scope of virtual reality and augmented reality in dermatology

Virtual reality (VR) and augmented reality (AR) are making headlines, pushing the boundaries of educational experiences and applicability in a variety of fields. Medicine has seen a rapid growth of utilization of these devices for various educational and practical purposes. With respect to the field of dermatology, very few uses are discussed in the literature. We briefly present the current status of VR/AR with regard to this specialty

Stevens-Johnson syndrome/toxic epidermal necrolysis associated with natural thyroid medication

Steven-Johnson syndrome (SJS)/toxic epidermal necrolysis (TEN) is a rare immunologic hypersensitivity reaction to stimuli that presents as widespread eruption with mucocutaneous detachment and involvement of other organs. Multiple causes have been noted in literature, including numerous medications. In this report, we present a 52-year-old woman who arrived at the emergency department with a complaint of rash, malaise, and pruritus. She subsequently developed diffuse cutaneous and mucosal detachment. Work-up supported a diagnosis of SJS/TEN secondary to her thyroid replacement therapy, derived from desiccated pig thyroid glands. The patient's natural thyroid medication was discontinued and she responded well to appropriate treatment. This case is unique in that thyroid replacement therapy is not a commonly reported trigger of SJS/TEN. Providers should be aware of the potential for natural thyroid and other animal-derived natural medications to cause adverse reactions such as SJS/TEN

La contribución de las editoriales del periódico el tiempo a la construcción de las representaciones sociales del perdón y la reconciliación, y de la violencia y el conflicto

El objetivo general de esta investigación consiste en identificar la orientación del discurso editorial del periódico El Tiempo en la construcción de representaciones sociales asociadas al perdón y la reconciliación (mensaje tipo 1), y a la violencia y el conflicto (mensaje tipo 2). Esto es, identificar si los tratamientos del lenguaje utilizados por el periódico contribuyeron a la construcción de un consenso social del perdón y la reconciliación, o del conflicto y la violencia, durante el periodo agosto 2009- julio 2010. El capítulo 2, correspondiente al marco teórico, contribuye al desarrollo de una primera fase argumentativa en la que se explica por qué la guerra -no se da sólo en el plano de la confrontación armada y cómo valiéndose de los medios de comunicación produce un impacto en la estructura psicológica de poblaciones enteras. En este sentido, se aborda la importancia de las representaciones sociales como constructoras de realidades humanas. En el capítulo 3 tiene lugar el desarrollo de los Programas Narrativos para cada uno de los ejes de estudio, con el objetivo de visibilizar la mayor o menor contribución de las editoriales del diario El Tiempo a la construcción de representaciones sociales asociadas a cada uno de ellos. El análisis Crítico, por último, pone en evidencia cómo la simbología tiene un papel central en los tratamientos del lenguaje de El Tiempo en la construcción de un consenso social de perdón y reconciliación o violencia y conflicto en nuestro país