Estatura alta e hipodesenvolvimento mamário após reposição estrogênica em paciente com hipogonadismo hipergonadotrófico e cariótipo 45,X/46,X, der(X) com superdosagem do gene SHOX

SHOX is exclusively expressed in the developing distal limb bones of human embryos and in the first and second pharyngeal arches. It works as a promoter for linear growth and as a repressor of growth plate fusion. It was reported, recently, that SHOX overdosage and gonadal estrogen deficiency have led to tall stature due to continued growth. We report, in the present study, a female patient with 45,X/46,X, psu idic(X)(pter→q21:q21→pter) karyotype, tall stature, and hypergonadotrophic hypogonadism without Turner stigmas. She did not present breast development even after long term therapy with high estrogen doses. Fluorescence in situ hybridization depicted the presence of three copies of SHOX gene. Microsatellite studies showed paternal origin of der(X). Further studies in similarly affected patients will clarify if the absence of breast development, despite previous high-dose estrogen treatment, is associated to triple copy of SHOX gene.O gene SHOX é expresso, exclusivamente, no primeiro e no segundo arcos faríngeos, assim como nas extremidades dos ossos dos membros em embriões humanos. SHOX normalmente atua como um promotor para o crescimento linear e como um repressor do fechamento da placa de crescimento. Recentemente, foi descrito que o excesso da proteína SHOX associada à deficiência estrogênica gonadal leva à estatura alta devido ao contínuo crescimento. Neste estudo descrevemos uma paciente do sexo feminino com cariótipo 45,X/46,X,psu idic(X)(pter→q21:q21→pter), estatura alta, hipogonadismo hipergonadotrófico e sem estigmas de Turner. A paciente não apresentou desenvolvimento de mamas, mesmo depois do tratamento prolongado com altas doses de estrógenos. FISH evidenciou a presença de três cópias do SHOX. Estudo de microssatélites demonstrou a origem paterna do der(X). Estudos futuros em pacientes com semelhanças clínicas esclarecerão se a ausência de desenvolvimento de mamas, apesar do tratamento com altas doses de estrógenos, está associada à tripla cópia do SHOX.Conselho Nacional de Pesquisa (CNPq

Developing a low cost model for chest drainage simulate training

Objetivo: Descrever a construção de um simulador de baixo custo de drenagem torácica para capacitar a realização deste procedimento. Métodos: A concepção do modelo se deu em 2014 por integrantes do Programa de Educação Tutorial do curso de Medicina da UNIFOR. A seguir, o modelo foi testado por 10 especialistas e posteriormente aprovado para ser aplicado em quatro edições de um curso teórico-prático de procedimentos invasivos com acadêmicos de Medicina de diferentes universidades. Para avaliar o simulador e o desempenho no seu uso, aplicou-se questionários semiestruturados e checklist. Os dados foram analisados pelo Statistical Package for the Social Sciences v. 22 usando estatística descritiva. Resultados: Usou-se um manequim plástico comercial em que foi realizado um corte de 8x8 cm na região lateral do tórax, correspondente ao local da drenagem. Neste local, foram posicionadas folhas de E.V.A. (simulando pele e músculos intercostais), esponja de estofado (subcutâneo) e folha de PVC (pleura). Na parte interna do manequim foi colocada uma estrutura de madeira contendo duas costelas e, entre elas, um copo plástico recoberto por E.V.A. contendo líquido vermelho (simulando um hemotórax). O custo inicial do modelo completo foi de R$81,00/US$ 21,00. Quando testado por especialistas, todos concordaram que o modelo pode ser usado para o ensino na graduação. Durante o curso de procedimentos invasivos, 129 acadêmicos realizaram o procedimento, em que 64,3% dos alunos inseriram corretamente o dreno e 79,1% conectaram ao sistema de drenagem. Apesar de um percentual de erros importante visto em passos iniciais básicos, os alunos conseguiram executar a técnica proposta de forma suficiente. Conclusão: O simulador de drenagem de tórax mostrou-se ser de fácil acesso e reprodução nas universidades, o que o torna uma ferramenta útil para o ensino.Objective: To describe the construction of a low-cost simulator of chest drainage for the training of undergraduate medical students. Methods: The model was conceived in 2014 by members of the Tutorial Education Program - UNIFOR. It was tested by 10 specialists and approved for application in four editions of a theory and practice course on invasive procedures with medical students from different universities. To evaluate the simulator and its performance, semi-structured questionnaires and checklists were applied. Data were analyzed in the Statistical Package for the Social Sciences v. 22, using descriptive statistics. Results: A commercial mannequin was used to build the model. An 8 x 8 cm square cut was made in the lateral wall of the chest. Inside this region, EVA sheets (simulating skin and intercostal muscles), foam padding (subcutaneous tissue) and transparent PVC sheet (pleura) were placed. In the inner part of the mannequin, a wooden structure containing two ribs was constructed and a plastic cup containing red-dyed water was placed between the two ribs. The complete model had an initial cost of R$81,00/US$ 21,00. The medical specialists agreed (100%) that it can be used for undergraduate teaching. During the course on invasive procedures, 129 students performed the procedure; 64.3% of them were able to correctly insert the drain and 79.1% connected it to the drainage system. Despite of the high percentage of errors in basic initial steps, the students were able to execute the technique satisfactorily. Conclusion: The low-cost chest drainage simulator was easy to access and to reproduce in universities, which makes it an important tool for teaching

Rationale, study design, and analysis plan of the Alveolar Recruitment for ARDS Trial (ART): Study protocol for a randomized controlled trial

Background: Acute respiratory distress syndrome (ARDS) is associated with high in-hospital mortality. Alveolar recruitment followed by ventilation at optimal titrated PEEP may reduce ventilator-induced lung injury and improve oxygenation in patients with ARDS, but the effects on mortality and other clinical outcomes remain unknown. This article reports the rationale, study design, and analysis plan of the Alveolar Recruitment for ARDS Trial (ART). Methods/Design: ART is a pragmatic, multicenter, randomized (concealed), controlled trial, which aims to determine if maximum stepwise alveolar recruitment associated with PEEP titration is able to increase 28-day survival in patients with ARDS compared to conventional treatment (ARDSNet strategy). We will enroll adult patients with ARDS of less than 72 h duration. The intervention group will receive an alveolar recruitment maneuver, with stepwise increases of PEEP achieving 45 cmH(2)O and peak pressure of 60 cmH2O, followed by ventilation with optimal PEEP titrated according to the static compliance of the respiratory system. In the control group, mechanical ventilation will follow a conventional protocol (ARDSNet). In both groups, we will use controlled volume mode with low tidal volumes (4 to 6 mL/kg of predicted body weight) and targeting plateau pressure <= 30 cmH2O. The primary outcome is 28-day survival, and the secondary outcomes are: length of ICU stay; length of hospital stay; pneumothorax requiring chest tube during first 7 days; barotrauma during first 7 days; mechanical ventilation-free days from days 1 to 28; ICU, in-hospital, and 6-month survival. ART is an event-guided trial planned to last until 520 events (deaths within 28 days) are observed. These events allow detection of a hazard ratio of 0.75, with 90% power and two-tailed type I error of 5%. All analysis will follow the intention-to-treat principle. Discussion: If the ART strategy with maximum recruitment and PEEP titration improves 28-day survival, this will represent a notable advance to the care of ARDS patients. Conversely, if the ART strategy is similar or inferior to the current evidence-based strategy (ARDSNet), this should also change current practice as many institutions routinely employ recruitment maneuvers and set PEEP levels according to some titration method.Hospital do Coracao (HCor) as part of the Program 'Hospitais de Excelencia a Servico do SUS (PROADI-SUS)'Brazilian Ministry of Healt

Aquaporin 4 and its Relationship with Brain Astrocytomas – Literature Review

Background Aquaporins (AQPs) are a family of membrane proteins that regulate the osmotic permeability of the plasma membrane. There are described in the literature a total of 13 types of Aquaporins in mammals, each with different places of expression. In addition to water, some AQPs allow the passage of glycerol and ammonia, being called Aquaglyceroproteins. In the central nervous system, AQPs 1 and 4 are expressed, being responsible for the water regulation in the blood-brain barrier. These two AQPs are believed to participate in the pathophysiological process that governs the behavior of various CNS diseases, such as trauma and primary tumors. More particularly, there are quite controversial data in the literature on the expression of AQP4 in tumors and its relationship with disease progression and treatment possibility. Objective This paper aims to perform a literature review on the function and expression of AQP4 in the CNS and primary tumors of this system, to compile what is in the literature on the subject and raise new possible research hypotheses. Methods The PUBMED platform was used for bibliographic survey using “Aquaporin 4,” “expression” and “astrocytomas” as keywords. Articles older than 2008 and articles that did not address AQP4 expression in astrocytomas were excluded. In the selected articles, the following topics were investigated: AQP4 structure, brain and tumor localization, and relationship with peritumoral edema. Results Regarding the structure and location of AQP4, the literature presents two isoforms of AQP4: M1 and M23. Both form clusters of AQP4 called “orthogonal arrays of proteins - OAPs.” In the tumor tissue, the literature shows a decrease in the formation of OAPs and an increase in the expression of both AQP4 isoforms, besides losing their polarity, diffusing through the cytoplasmic membrane. As for the function of AQP4 in tumors, AQP4 assists in cell migration and invasion, in addition to participating in cell proliferation and apoptosis. Regarding the relationship with cerebral edema, there are controversial knowledge. Studies have shown that increased AQP4 aggravates cytotoxic edema of tumor cells and, by assisting in cell migration and angiogenesis, indirectly assist in the formation of vasogenic edema by breaking the blood-brain barrier. Other studies, however, point to the increase in AQP4 as a protective mechanism to combat vasogenic edema that occurs in tumor formation. Furthermore, the literature presents a therapeutic proposal in which, by inhibiting AQP4 expression, tumor migration and cerebral edema decrease in rats with glioblastoma. Discussion As shown in the literature, there is a difference in histopathological structure between high and low grade gliomas. However, there are common changes between them. These common changes could then be used as a factor of severity or evolution of low-grade to high-grade tumors. Moreover, it is not yet possible to perceive the true relationship of AQP4 expression and increased VEGF evolution of peritumoral edema. Finally, it can be hypothesized that since the expression ratio between AQP4 isoforms in normal tissue is greater than in some tumors, the decrease in this ratio is due either to decreased M23 expression or increased of the isoform M1. Conclusion Further studies are needed to understand the physiology and pathophysiology involving AQP4 in astrocytomas to create effective therapeutic proposals to combat this disease

Perceptions of hemodialysis patients about dietary and fluid restrictions

Abstract Introduction: Dietary regimen for hemodialysis (HD) patients is complicate and identifying characteristics and reasons of those most likely to experience difficulty in adhering to dietary restrictions is important. Objective: To quantify HD patient's perceptions about dietary and fluid restrictions, acknowledge individual reasons that facilitate or complicate their adherence, and also their relationship with demographic, nutritional and clinical characteristics. Methods: Multi-center cross-sectional study in five dialysis facilities. HD patients (n = 147; 48% male; age: 51,3 ± 13,6 years) were encouraged to score on a scale of 0 to 10 their perception of the degree of difficulty to adhere the nutritional advice regarding control of sodium, fluid, potassium and phosphorus intake. Results: Sodium score was 4(1-7), fluids 6(3-8), potassium 4(2-6) and phosphate 6(3-8). Percentage of patients who perceived a greater difficulty (score ≥ 6) to control fluids and phosphate intake was higher than for sodium and potassium. Participants with excessive % interdialytic weight gain (%IDWG) had a higher score for fluids; the ones with hypercalemia perceived more difficulty to control potassium intake than others as well as hyperphosphatemic patients compared to normophosphatemic to control phosphorus intake. Participants with a greater difficulty to control sodium intake also perceived a greater difficulty to control fluids, potassium and phosphate intake. Conclusion: Participants perceived a greater difficulty to control fluid and phosphate intake rather than sodium and potassium, higher perceptions scores were associated with subgroups and with worse control of clinical parameters. Moreover, patients with a greater difficulty to control some dietary item also found harder to control the other ones

THE OLD ONE TECHNIQUE IN A NEW STYLE: DEVELOPING PROCEDURAL SKILLS IN PARACENTESIS IN A LOW COST SIMULATOR MODEL

ABSTRACT BACKGROUND: Paracentesis is a routine medical procedure quite relevant in clinical practice. There are risks of complications related to paracentesis, so it is essential a proper trainee for the younger practicer. OBJECTIVE: The article describes the construction and the application of a low cost paracentesis simulator for undergraduate medical students and it also describes the perception of students about the simulator as well. METHODS: A low-cost model was developed by the Program of Tutorial Education for training medical students during three editions of an undergraduate theoretical-practical course of bedside invasive procedures. The authors constructed a model from very low-cost and easily accessible materials, such as commercial dummy plus wooden and plastic supports to represent the abdomen, synthetic leather fabric for the skin, upholstered sponge coated with plastic film to represent the abdominal wall and procedure gloves with water mixed with paint to simulate the ascitic fluid and other abdominal structures. One semi-structured form with quantitative and qualitative questions was applied for medical specialists and students in order to evaluate the paracentesis simulator. RESULTS: The paracentesis model has an initial cost of US$22.00 / R$70.00 for 30 simulations and US$16.00 / R$50.00 for every 30 additional simulations. It was tested by eight medical doctors, including clinical medicine, general surgeons and gastroenterologists, and all of them fully agreed that the procedure should be performed on the manikin before in the actual patient, and they all approved the model for undergraduate education. A total of 87 undergraduate medical students (56% male) individually performed the procedure in our simulator. Regarding the steps of the procedure, 80.5% identified the appropriate place for needle puncture and 75.9% proceeded with the Z or traction technique. An amount of 80.5% of the students were able to aspire the fluid and another 80.5% of students correctly performed the bandage at the end of the procedure. All the students fully agreed that simulated paracentesis training should be performed prior to performing the procedure on a real patient. CONCLUSION: The elaboration of a teaching model in paracentesis provided unique experience to authors and participants, allowing a visible correlation of the human anatomy with synthetic materials, deepening knowledge of this basic science and developing creative skills, which enhances clinical practice. There are no data on the use of paracentesis simulation models in Brazilian universities. However, the procedure is quite accomplished in health services and needs to be trained. The model described above was presented as qualified with low cost and easily reproducible

Perceptions of hemodialysis patients about dietary and fluid restrictions

<div><p>Abstract Introduction: Dietary regimen for hemodialysis (HD) patients is complicate and identifying characteristics and reasons of those most likely to experience difficulty in adhering to dietary restrictions is important. Objective: To quantify HD patient's perceptions about dietary and fluid restrictions, acknowledge individual reasons that facilitate or complicate their adherence, and also their relationship with demographic, nutritional and clinical characteristics. Methods: Multi-center cross-sectional study in five dialysis facilities. HD patients (n = 147; 48% male; age: 51,3 ± 13,6 years) were encouraged to score on a scale of 0 to 10 their perception of the degree of difficulty to adhere the nutritional advice regarding control of sodium, fluid, potassium and phosphorus intake. Results: Sodium score was 4(1-7), fluids 6(3-8), potassium 4(2-6) and phosphate 6(3-8). Percentage of patients who perceived a greater difficulty (score ≥ 6) to control fluids and phosphate intake was higher than for sodium and potassium. Participants with excessive % interdialytic weight gain (%IDWG) had a higher score for fluids; the ones with hypercalemia perceived more difficulty to control potassium intake than others as well as hyperphosphatemic patients compared to normophosphatemic to control phosphorus intake. Participants with a greater difficulty to control sodium intake also perceived a greater difficulty to control fluids, potassium and phosphate intake. Conclusion: Participants perceived a greater difficulty to control fluid and phosphate intake rather than sodium and potassium, higher perceptions scores were associated with subgroups and with worse control of clinical parameters. Moreover, patients with a greater difficulty to control some dietary item also found harder to control the other ones.</p></div