Search

Primary chylomicronemia (PCM) is a rare and intractable disease characterized by marked accumulation of chylomicrons in plasma. The levels of plasma triglycerides (TGs) typically range from 1,000 - 15,000 mg/dL or higher. PCM is caused by defects in the lipoprotein lipase (LPL) pathway due to genetic mutations, autoantibodies, or unidentified causes. The monogenic type is typically inherited as an autosomal recessive trait with loss-of-function mutations in LPL pathway genes ( LPL , LMF1 , GPIHBP1 , APOC2 , and APOA5 ). Secondary/environmental factors (diabetes, alcohol intake, pregnancy, etc.) often exacerbate hypertriglyceridemia (HTG). The signs, symptoms, and complications of chylomicronemia include eruptive xanthomas, lipemia retinalis, hepatosplenomegaly, and acute pancreatitis with onset as early as in infancy. Acute pancreatitis can be fatal and recurrent episodes of abdominal pain may lead to dietary fat intolerance and failure to thrive. The main goal of treatment is to prevent acute pancreatitis by reducing plasma TG levels to at least less than 500-1,000 mg/dL. However, current TG-lowering medications are generally ineffective for PCM. The only other treatment options are modulation of secondary/environmental factors. Most patients need strict dietary fat restriction, which is often difficult to maintain and likely affects their quality of life. Timely diagnosis is critical for the best prognosis with currently available management, but PCM is often misdiagnosed and undertreated. The aim of this review is firstly to summarize the pathogenesis, signs, symptoms, diagnosis, and management of PCM, and secondly to propose simple diagnostic criteria that can be readily translated into general clinical practice to improve the diagnostic rate of PCM. In fact, these criteria are currently used to define eligibility to receive social support from the Japanese government for PCM as a rare and intractable disease. Nevertheless, further research to unravel the molecular pathogenesis and develop effective therapeutic modalities is warranted. Nationwide registry research on PCM is currently ongoing in Japan with the aim of better understanding the disease burden as well as the unmet needs of this life-threatening disease with poor therapeutic options.

Submitted by Jonathan Sousa de Almeida (jonathan.sousa@ufma.br) on 2022-10-14T13:22:12Z No. of bitstreams: 1 SAMIRISCOSTADASILVA.pdf: 615180 bytes, checksum: b1a37ab2e9dcf251306990b28038110e (MD5) Made available in DSpace on 2022-10-14T13:22:12Z (GMT). No. of bitstreams: 1 SAMIRISCOSTADASILVA.pdf: 615180 bytes, checksum: b1a37ab2e9dcf251306990b28038110e (MD5) Previous issue date: 2021-10-08 CAPES Psychoanalysis is frequently presented on psychologist training as theory in which is possible to sustain a direction of a practice; this theory, however, is grounded by its own parameters, instituted from clinical experience, and should not be taken as closed concepts, but as guidelines and recommendations to sustain a practice that takes as a standpoint the concept of unconsciousness. Starting of the questions “who analyses today?” brought by Lacan in its text "The direction of treatment and the principles of its power", from 1958, in which he highlights the need to resume Freudian guidelines, it was pointed out as a research problem the following question: to wich parameters must the psychologist be submitted to guide a psychoanalytic practice? Considering the development of this question, it was established as main goal: place, as from the return to Freud by Lacan, beacons to think guidelines to psychoanalytic treatment, to point out how psychologists can guide a practice in psychoanalysis on the present day. For that, it was proposed as specific goals: present some of the main concepts that surround the theory of the practice proposed by Freud and re- established by Lacan, through its studies of linguistics, to move forward on psychoanalytic theory, starting from the formulation that the unconsciousness is structured as language; to understand the psychoanalytic treatment as sustained by the parameters of language and listening. Indicating the transference and interpretation as operators of the analyst and guide of this paper. It is a qualitative and bibliographic research, and its development comes from the research on psychoanalysis, that is specified and sustained by the parameters from the clinical experience, free association and floating attention. From that, a psychoanalytic practice is possible when are taken as ground rules the freudian recommendations, reinterpreted by Lacan afterwards., based on the proposal of the existence of the unconsciousness as an instance wich overlaps the psychic functioning. Considering that the languange passes through the speaker, showing that psychic functioning is marked by dialectic, as the constitution of the subject happens as an effect of the incidence of the significant, that install the neurotic division, an hiatus through the Edipo Complex – castration, amongst an egoic instance, imaginary (moi) and the subject of the unconsciousness (je). Therefore, it is a paper about neurosis. The psychologists job on the psychoanalytic practice is sustained by the management of transference and interpretation, as the difference amongst je and moi aims as the subjects functioning, in what he brings an structural positioning, singular, marked by the incidence of the significant, and to which it sees as summoned to return. Thus, it is pointed out that the work on psychoanalysis, independently of where it takes place, is implied on telling this structural position from the subject as the guidelines to this work. A psicanálise é frequentemente apresentada na formação do psicólogo como uma teoria através da qual é possível sustentar a direção de uma prática; esta teoria, entretanto, é alicerçada por parâmetros próprios, instituídos a partir da experiência clínica, e que não devem ser tomados como conceitos fechados, mas como diretrizes e recomendações para sustentação de uma prática que toma como ponto de apoio o conceito de inconsciente. Partindo da questão “quem analisa hoje?” trazida por Lacan em seu texto “A direção do tratamento e os princípios de seu poder”, de 1958, em que aponta a necessidade de retomar às diretrizes freudianas, elencou-se como problema de pesquisa o seguinte questionamento: a quais parâmetros deve o psicólogo estar submetido a fim de dirigir uma prática a partir do referencial da psicanálise? Tendo em vista o desenvolvimento desta questão, foi estabelecido como objetivo geral: situar, a partir do retorno à Freud com Lacan, balizas para se pensar a direção do tratamento psicanalítico, tendo em vista apontar de que maneira o profissional de psicologia pode vir a dirigir uma prática a partir da psicanálise, nos dias de hoje. Para isso, foram propostos como objetivos específicos: apresentar alguns dos conceitos principais que norteiam a teoria da prática proposta por Freud, tendo em vista apontar a especificidade deste referencial teórico-prático; identificar as referências fundadas por Freud e retomadas por Lacan, através de seus estudos em linguística, para avançar na teoria psicanalítica, partindo da formulação de que o inconsciente é estruturado como uma linguagem; situar o tratamento psicanalítico enquanto sustentado pelos parâmetros da fala e da escuta, apontando a transferência e a interpretação como operadores do analista na direção deste trabalho. A pesquisa é de cunho qualitativo e bibliográfico e seu desenvolvimento deu-se a partir da pesquisa em psicanálise, que tem como especificidade a de ser sustentada pelos mesmos parâmetros da experiência clínica: associação livre e atenção flutuante. Disso, situa-se que uma prática psicanalítica se faz possível quando são tomados como alicerces as recomendações freudianas, relidas por Lacan a posteriori, pautadas na aposta da existência do inconsciente enquanto instância que sobredetermina o funcionamento psíquico. Considerando o atravessamento do falante pela linguagem, mostra-se que este funcionamento psíquico é marcado por uma dialética, visto que a constituição do sujeito se dá como efeito da incidência do significante, o que por intermédio do Complexo de Édipo- castração, instaura para o neurótico uma divisão, uma hiância, entre uma instância egóica, imaginária (moi) e o sujeito do inconsciente (je). Portanto, trata-se de um estudo da neurose. Sustenta-se que o trabalho do psicólogo na direção de uma prática psicanalítica, pelo manejo da transferência e da interpretação, ao contar a diferença entre je e moi visa o funcionamento do sujeito, naquilo que ele traz de uma posição estrutural, singular, marcada pela incidência do significante, e ao qual vê-se sempre convocado a retornar. Assim, aponta-se que o trabalho com a psicanálise, independentemente do espaço em que se esteja inserido, implica em contar essa posição estrutural do sujeito como aquilo que orienta a direção deste trabalho.

El angioedema hereditario (HAE) es una enfermedad rara, autosómica dominante, caracterizada por episodios que comprometen la piel, el tracto gastrointestinal y la laringe. Tiene una mortalidad histórica por asfixia del 15 al 50%. Es producida por la deficiencia funcional del C1 inhibidor. La identificación de la bradiquinina como mediador principal ha estimulado el desarrollo de nuevos medicamentos para tratar la enfermedad. El tratamiento del HAE se establece en consensos internacionales. El desarrollo de guías para el tratamiento de la enfermedad permite ordenar el uso de procedimientos diagnósticos y drogas. Describimos aquí algunas características farmacológicas de los medicamentos utilizados en el tratamiento del HAE en la Argentina: el concentrado plasmático de C1 inhibidor, el antagonista de la bradiquinina, icatibant, el andrógeno atenuado danazol y los agentes anti-fibrinolíticos ácidos épsilon aminocaproico (EACA) y tranexámico. Asimismo, se describe su forma de uso y del control de los eventos adversos más frecuentes, así como las recomendaciones del último consenso internacional, aplicables para conformar una primera guía de tratamiento del HAE en la Argentina.Hereditary angioedema (HAE) is a rare autosomal dominant disease, characterized by episodes of edema involving the skin, gastrointestinal tract and larynx. HAE has a historical asphyxia mortality of 15% to 50%. It is the consequence of functional C1 inhibitor deficiency. The identification of bradykinin as the principal mediator of the disease has lead to the development of new drugs for its treatment. HAE management and treatment are agreed by international consensus decision. A therapeutic guide for the treatment of the disease is important to improve diagnosis and treatment. We here describe the pharmacology of drugs available for the treatment of HAE in Argentina: plasma derived C1 Inhibitor, the bradykinin antagonist: icatibant, the attenuated androgen danazol and the anti-fibrinolytic agents epsilonaminocaproic acid and tranexamic acid. Furthermore, we describe drug use and adverse effects control, as well as the last international consensus document recommendations applicable to Argentina to conform a first guide to HAE treatment in our country.

Objetivo: Establecer una pauta de actuación y un algoritmo terapéutico ante la aparición de hematuria en pacientes con antecedentes de radioterapia pélvica, revisando para ello las diferentes opciones de tratamiento reflejadas en la literatura médica. Material y métodos: A través de PubMed se realiza una revisión bibliográfica de artículos relacionados con la cistitis rádica, incluyendo términos de búsqueda referidos a las diferentes opciones de tratamiento: ácido hialurónico endovesical; estrógenos conjugados, pentosan polisulfato, ácido aminocaproico oral, factor VIIa recombinante, cámara hiperbárica, embolización, aluminio endovesical, balón Helmstein y formolización. Se limita la búsqueda a publicaciones en castellano e inglés y se excluyen aquellas referidas a la experimentación animal. Resultados: Se expone cada una de las opciones citadas, haciendo referencia al mecanismo de acción, pauta y dosis de administración, efectos secundarios y prevención de los mismos si es posible así como eficacia del tratamiento. Tras conseguir estabilizar hemodinamicamente al paciente y descartar la presencia de lesiones neoformativas vesicales y/o hematurias originadas en tramo urinario superior, se debe iniciar un tratamiento escalonado. Conclusiones: El conocer diferentes opciones de tratamiento y sus pautas de administración permitirá al urólogo obtener una mayor tasa de éxitos en el difícil manejo de esta patología. Objective: Establish a pattern of behavior and treatment algorithm at the onset of hematuria in patients with a previous history of pelvic radiation, checking for this different treatment options reflected in the literature. Material and methods: Through performing a PubMed literature review of articles related to IC lies, searching items includes the different treatment options: intravesical hyaluronic acid, conjugated estrogens, pentosan polysulfate, oral aminocaproic acid, recombinant factor VIIa, hyperbaric chamber, embolization, aluminum intravesical, Helmstein ball and formalin. Limits the search to english or spanish publications and excluding those related to animal experimentation. Results: Every option is exposed, referring to the physiopathology, dosage regimen and administration, side effects and treatment efficacy. Conclusions: Once patient hemodynamic stabilization is achieved, and after rule out bladder tumors injuries and /or haemathuria originating from the upper urinary tract, treatment should start rolling. To know different treatment options and patterns of administration will allow the urologist to obtain a higher rate of success in the difficult management of this condition.