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OBJECTIVE: To validate an educational material on diabetes through an expert consensus for its implementation into a web site. MATERIAL AND METHODS: An observational study was carried out in a group of health professionals, for which an educational material was developed for patients with diabetes. Topics included nutrition, physical exercise, control indicators, complications, pharmacological treatment, among others. The language, text and figures were focused on easy comprehension, additionally, a section of didactic activities to be answered by the patient with diabetes at the end of each module was included. To evaluate the educational material by health professionals, an instrument was designed and validated. Once all the educational material was available, each of the modules was sent by e-mail to at least three clinical experts in the assigned topic, as well as the instrument for the evaluation of the module. RESULTS: Thirty-seven experts were included in the study, 76% rated the educational modules evaluated as highly adequate, while only 24% rated them as adequate. The instrument used obtained a good level of internal consistency, with a Cronbach's alpha coefficient of 0.92. In the dimensions of the instrument, the lowest Cronbach's alpha score was that of "call-to-action", with a value of 0.71. CONCLUSION: The diabetes educational material was rated as highly appropriate by the clinical experts. The developed instrument has an adequate content validity, as well as a good level of internal consistency.
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Diabetes Mellitus , Humanos , Reprodutibilidade dos Testes , Psicometria/métodos , Diabetes Mellitus/terapia , Educação em Saúde , Pessoal de SaúdeRESUMO
AIMS: To describe the contribution of nursing students to clinical settings based on the perceptions of nurse preceptors and to examine whether certain characteristics of nurses' professional activity are associated with a positive perception of nursing students. BACKGROUND: Most clinical agencies receive many nursing students each year, who acquire clinical competencies under the guidance of a registered nurse preceptor. However, there is limited evidence of the contributions made by nursing students during clinical placements. METHODS: A multi-center cross-sectional study was carried out between June and December 2019. A convenience sample of Registered Nurses (n = 927) was recruited from four public hospitals in Spain. The Nursing Student Contributions to Clinical Settings' questionnaire was used. In addition, sociodemographic, work and teaching activity variables were collected. Multivariable logistic regression was used to determine the variables associated with positive student contributions. RESULTS: The nursing student contributions were deemed favorable by 70.7% of the nurse preceptors, mainly because the nursing students are future professionals who know the center, support the development of the nurses' teaching role and constitute a link between the health center and the university. Certain professional characteristics of the Registered Nurses were significantly associated with a positive perception of the contributions of nursing students: having daily coffee breaks (Odds ratio: 2.60; 95% Confidence interval:1.27-5.32), high levels of professional satisfaction (Odds ratio: 2.13; 95% Confidence interval:1.21-3.75) and work in medical-surgical units (Odds ratio: 1.62; 95% Confidence interval: 1.08-2.41). In contrast, nurses with greater work experience (≥ 30 years) (Odds ratio: 0.48; 95% Confidence interval: 0.27-0.85) and who worked at units where 10 or more students perform clinical practice (Odds ratio: 0.57; 95% Confidence interval: 0.36-0.90) were associated with a lower probability of positive perceptions. CONCLUSIONS: In Spain, the contributions made by nursing students to clinical settings are favorable, both for the nursing profession and for healthcare institutions. Their contributions are influenced by the professional characteristics of the Registered Nurses, as well as the environment and the teaching activity within the units.
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Bacharelado em Enfermagem , Estudantes de Enfermagem , Humanos , Estudos Transversais , Papel do Profissional de Enfermagem , Preceptoria , Inquéritos e Questionários , Competência ClínicaRESUMO
INTRODUCTION: Health-disease processes are established and programmed in the first 1500 days of life, a period in which nutrition and the microbiota play a fundamental role. Feeding practices vary, according to regional sociocultural characteristics. The Early Nutrition Group of the Latin American Society for Pediatric Gastroenterology, Hepatology and Nutrition (LASPGHAN) established the goal of identifying the main feeding practices in the first 1500 days that were recommended by health professionals in Latin America. MATERIALS AND METHODS: A survey was conducted on the aspects of maternal-infant and young child nutrition during the first 1500 days of life. An open invitation was extended to Latin American healthcare professionals to anonymously answer the online survey. RESULTS: A total of 1284 surveys from participants in 18 Latin American countries were analyzed. The mean age of the participants was 37.14⯱â¯11.1 years, 75.7% were women, 64.7% were physicians, and the rest were nutritionists/nutriologists. A total of 71.4% were familiar with the concept of the first 1000 days of life, 95% answered that exclusive breastfeeding should be carried out up to 6 months of age, and 34.3% responded that complementary feeding should be begun between 4 and 6 months of age. There was scant knowledge regarding nutrition in the pregnant woman. Adherence to traditional complementary feeding practices was evident. CONCLUSIONS: In a group of Latin American healthcare professionals, knowledge about nutrition in the first 1000-1500 days of life of an individual is still incomplete and insufficient, showing the need for continued training of healthcare professionals, with respect to those themes.
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Aleitamento Materno , Fenômenos Fisiológicos da Nutrição do Lactente , Lactente , Criança , Gravidez , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Pré-Escolar , Masculino , América Latina , Inquéritos e Questionários , Atenção à SaúdeRESUMO
BACKGROUND: Myocardial blood flow (MBF) can be quantified using dynamic PET studies. These studies also inherently contain tomographic images of early bolus displacement, which can provide cardiopulmonary transit times (CPTT) as measure of cardiopulmonary physiology. The aim of this study was to assess the incremental prognostic value of CPTT in heart transplant (OHT) recipients. METHODS: 94 patients (age 56 ± 16 years, 78% male) undergoing dynamic 13N-ammonia stress/rest studies were included, of which 68 underwent right-heart catherization. A recently validated cardiac allograft vasculopathy (CAV) score based on PET measures of regional perfusion, peak MBF and left-ventricular (LV) ejection fraction (LVEF) was used to identify patients with no, mild or moderate-severe CAV. Time-activity curves of the LV and right ventricular (RV) cavities were obtained and used to calculate the difference between the LV and RV bolus midpoint times, which represents the CPTT and is expressed in heartbeats. Patients were followed for a median of 2.5 years for the occurrence of major adverse cardiac events (MACE), including cardiovascular death, hospitalization for heart failure or acute coronary syndrome, or re-transplantation. RESULTS: CPTT was significantly correlated with cardiac filling pressures (r = .434, P = .0002 and r = .439, P = .0002 for right atrial and pulmonary wedge pressure), cardiac output (r = - .315, P = .01) and LVEF (r = - .513, P < .0001). CPTT was prolonged in patients with MACE (19.4 ± 6.0 vs 14.5 ± 3.0 heartbeats, P < .001, N = 15) with CPTT ≥ 17.75 beats showing optimal discriminatory value in ROC analysis. CPTT ≥ 17.75 heartbeats was associated with a 10.1-fold increased risk (P < .001) of MACE and a 7.3-fold increased risk (P < .001) after adjusting for PET-CAV, age, sex and time since transplant. CONCLUSION: Measurements of cardiopulmonary transit time provide incremental risk stratification in OHT recipients and enhance the value of multiparametric dynamic PET imaging, particularly in identifying high-risk patients.
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Transplante de Coração , Adulto , Idoso , Biomarcadores , Feminino , Átrios do Coração , Transplante de Coração/efeitos adversos , Transplante de Coração/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Tomografia por Emissão de Pósitrons , Medição de RiscoRESUMO
When it is safe to proceed with transplantation after coronavirus disease 2019 (COVID-19) infection is still unknown. We describe the clinical course and management of immunosuppression in a patient with positive real-time polymerase chain reaction (RT-PCR) for Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) in a nasopharyngeal swab at the time of kidney transplantation, and with positive antibodies for SARS-CoV-2. The patient had no complications and was discharged with a functioning graft.
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PURPOSE: Cold exposure activates the hypothalamus-pituitary-thyroid (HPT) axis, response blunted by previous acute stress or corticosterone administration. Chronic stressors can decrease serum T3 concentration, and thyrotropin-releasing hormone (Trh) expression in the paraventricular nucleus (PVN), but impact on the response to cold is unknown; this was studied in rats submitted to daily repeated restraint (rRes) that causes habituation of hypothalamus-pituitary-adrenal (HPA) axis response, or to chronic variable stress (CVS) that causes sensitization and hyperreactivity. METHODS: Wistar male adult rats were submitted to rRes 30 min/day, or to CVS twice a day, for 15 days. On day 16, rats were exposed 1 h to either 5 or 21 °C. Parameters of HPT and HPA axes activity and of brown adipose tissue (BAT) cold response were measured; gene expression in PVN and BAT, by RT-PCR; serum hormone concentration by radioimmunoassay or ELISA. RESULTS: Compared to naïve animals, Crh and corticosterone concentrations were attenuated at the end of rRes, but increased at the end of CVS treatments. Cold exposure increased mRNA levels of Crh, Trh, and serum concentration of thyrotropin in naïve, but not in rRes or CVS rats; corticosterone increased in all groups. Cold induced expression of thermogenic genes in BAT (Dio2 and Ucp1) in naïve but not in stressed rats; Adrb3 expression was differentially regulated. CONCLUSION: Both types of chronic stress blunted HPT and BAT responses to cold. Long-term stress effects on noradrenergic and/or hormonal signaling are likely responsible for HPT dysfunction and not the type of chronic stressor.
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Tecido Adiposo Marrom/metabolismo , Resposta ao Choque Frio/fisiologia , Corticosterona , Sistema Hipotálamo-Hipofisário/metabolismo , Glândula Tireoide/metabolismo , Hormônio Liberador de Tireotropina/metabolismo , Animais , Corticosterona/sangue , Corticosterona/metabolismo , Regulação da Expressão Gênica , Iodeto Peroxidase/metabolismo , Masculino , Núcleo Hipotalâmico Paraventricular/metabolismo , Ratos , Ratos Wistar , Receptores Adrenérgicos beta 3/metabolismo , Estresse Fisiológico , Tempo , Proteína Desacopladora 1/metabolismo , Iodotironina Desiodinase Tipo IIRESUMO
Abstract It has been shown that there is a decrease in the concentrations of 25 hydroxyvitamin D (25-OHD) and bone mineral density (BMD) in patients with phenylketonuria (PKU) in their follow-up. Our objective was to determine concentrations of 25-OHD in subjects with PKU and hyperphenylalaninemia (HPA). Transversal analytical study considered three groups: G1-PKU with neonatal diagnosis and formula intake without Phe; G2-HPA, without specific treatment and G3-C control group. Sixteen patients per group (aged 6-23) were included. Levels of 25-OHD, lumbar spine (L2-L4), femur and total BMD, intact parathormone (PTH) and vitamin D (VitD) and calcium intake were calculated. The Kruskal-Wallis statistical test was applied (p-value<0,05). Significant differences were detected in concentrations of 25-OHD between G1-PKU and G2-HPA (38.9 ng/mL; 28 ng/mL, respectively) (NV: >30 ng/mL). G1-PKU had a higher intake of VitD, with differences among groups. There were no significant differences among groups in relation to BMD and intact PTH. In conclusion, G1-PKU under treatment and with good adherence, does not present VitD deficiency and no BMD alterations are observed. In contrast, G2-HPA had a lower intake of VitD and decreased 25-OHD concentrations which could affect the bone architecture in the long term. Further studies on the G2-HPA are suggested.
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The data set presented here offers evidence of the elemental composition related to a SEM micrograph of [Mn5(PO3(OH))2(PO4)2â 4H2O] (MnPhos) powders, known as hurealite, and synthesized by the reflux method. In addition, it contains additional information of the glass transition, melting and decomposition temperatures and their weight loss percent of coatings based on MnPhos incorporated into waterborne poly(urethane) (WPU). These data are complementing of the article "Corrosion investigation of new hybrid organic/inorganic coatings for carbon steel substrates: electrochemical and surface characterizations".
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INTRODUCTION: Cerebral palsy is one of the main causes of disability in childhood. Resistive therapy has proved to be beneficial in increasing strength and motor function in these patients, but its impact on gait is not yet clear. AIM: To analyse the impact of resistive therapy on improving gait through a systematic review and meta-analysis. PATIENTS AND METHODS: A search was conducted in Medline, ISI Web of Knowledge and PEDro for clinical trials in which resistive therapy was used and at least one gait parameter was assessed. RESULTS: Nine controlled studies and one single-arm study were identified. In terms of pre-post difference, the overall intragroup effect was in favour of the intervention, with null heterogeneity (standardised mean difference: 0.32; 95% CI: 0.19-0.44). The standardised mean differences were also positive as they restricted each of the gait parameters analysed: 0.36, 0.35 and 0.22 for step cadence, gait speed and step length, respectively. As regards the difference between groups, the results showed high heterogeneity, and the mean difference was also favourable, especially for speed (7.3 cm/s; 95% CI: 2.67-11.92), cadence (5.66 steps; 95% CI: 1.86-9.46) and, to a lesser extent, step length (3.25 cm; 95% CI: -1.69 to 8.19). CONCLUSION: The results support the impact of resistive therapy on gait improvement, especially in terms of the gait speed and step cadence parameters.
TITLE: Impacto de la terapia resistida sobre los parametros de la marcha en niños con paralisis cerebral: revision sistematica y metaanalisis.Introduccion. La paralisis cerebral es una de las principales causas de discapacidad en la infancia. La terapia resistida ha demostrado beneficio en el aumento de la fuerza y la funcion motora de estos pacientes, pero su impacto en la marcha aun no esta claro. Objetivo. Analizar el impacto de la terapia resistida sobre la mejora en la marcha, mediante una revision sistematica y metaanalisis. Pacientes y metodos. Se realizo una busqueda en Medline, ISI Web of Knowledge y PEDro de ensayos clinicos en los que se intervino con terapia resistida y se evaluo al menos un parametro de marcha. Resultados. Se identificaron nueve estudios controlados y uno de un solo brazo. En cuanto a la diferencia pre-post, el efecto global intragrupo fue a favor de la intervencion, con una heterogeneidad nula (diferencia estandarizada de medias: 0,32; IC 95%: 0,19-0,44). Las diferencias estandarizadas de medias fueron asimismo positivas al restringir a cada uno de los parametros de marcha analizados: 0,36, 0,35 y 0,22 para la velocidad de la marcha, la cadencia del paso y la longitud del paso, respectivamente. En relacion con la diferencia entre grupos, los resultados mostraron una heterogeneidad elevada y la diferencia de medias tambien fue favorable, especialmente para la velocidad (7,3 cm/s; IC 95%: 2,67-11,92) y la cadencia (5,66 pasos; IC 95%: 1,86-9,46), y en menor medida para la longitud del paso (3,25 cm; IC 95%: -1,69 a 8,19). Conclusion. Los resultados apoyan el impacto de la terapia resistida en la mejora en la marcha, especialmente en cuanto a los parametros de velocidad de la marcha y cadencia del paso.
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Paralisia Cerebral/fisiopatologia , Paralisia Cerebral/reabilitação , Marcha , Treinamento Resistido , Humanos , Resultado do TratamentoRESUMO
This update, written by authors designated by multiple pediatric endocrinology societies (see List of Participating Societies) from around the globe, concisely addresses topics related to changes in GnRHa usage in children and adolescents over the last decade. Topics related to the use of GnRHa in precocious puberty include diagnostic criteria, globally available formulations, considerations of benefit of treatment, monitoring of therapy, adverse events, and long-term outcome data. Additional sections review use in transgender individuals and other pediatric endocrine related conditions. Although there have been many significant changes in GnRHa usage, there is a definite paucity of evidence-based publications to support them. Therefore, this paper is explicitly not intended to evaluate what is recommended in terms of the best use of GnRHa, based on evidence and expert opinion, but rather to describe how these drugs are used, irrespective of any qualitative evaluation. Thus, this paper should be considered a narrative review on GnRHa utilization in precocious puberty and other clinical situations. These changes are reviewed not only to point out deficiencies in the literature but also to stimulate future studies and publications in this area.
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Hormônio Liberador de Gonadotropina/uso terapêutico , Puberdade Precoce , Adolescente , Criança , Feminino , Humanos , Masculino , Puberdade Precoce/diagnóstico , Puberdade Precoce/tratamento farmacológico , Puberdade Precoce/patologia , Puberdade Precoce/fisiopatologiaRESUMO
Since April 2015, medication reconciliation is performed in our Department. The objective of this study is to assess the impact of this activity on patients' care after one year of practice. METHODS: All patients who received medication reconciliation between April-October 2015 and June-December 2016 were included in this retrospective study. Undocumented unintentional discrepancies (DNIND) which result from the comparison between the patient's usual treatments and the medication prescribed at admission were collected. Then, a multidisciplinary discussion was initiated to correct them. The gravity of each DNIND was determined a posteriori. RESULTS: A statistical comparison between the two studies (2015 vs. 2016) showed the following significant results: decrease in DNIND (0.9 vs. 0.43), in percentage of patients with at least one DNIND (43% vs 31% P <5.10-6), in reconciliation time (43min vs. 23min) and no significant difference in the distribution of DNIND typology. The main therapeutic classes are: metabolism-diabetes-nutrition (21%), cardiology (18%), pneumology (17%) and neurology-psychiatry (15%). Drugs mainly concerned with DNIND are inhaled anti-asthmatics (13% of the medicines with DNIND), vitamins (8% of DNIND) and the levetiracetam antiepileptic drug (5% of DNIND). CONCLUSION: The implementation of the reconciliation medication allowed a significant reduction of the DNIND that permits to improve the patient healthcare pathway.
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Medicina Interna/organização & administração , Reconciliação de Medicamentos , Admissão do Paciente , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Lista de Checagem/normas , Procedimentos Clínicos/organização & administração , Procedimentos Clínicos/normas , Feminino , França/epidemiologia , Humanos , Medicina Interna/normas , Medicina Interna/estatística & dados numéricos , Masculino , Reconciliação de Medicamentos/normas , Reconciliação de Medicamentos/estatística & dados numéricos , Pessoa de Meia-Idade , Admissão do Paciente/normas , Admissão do Paciente/estatística & dados numéricos , Segurança do Paciente/normas , Segurança do Paciente/estatística & dados numéricos , Estudos Retrospectivos , Inquéritos e Questionários , Adulto JovemRESUMO
INTRODUCTION: Lysosomal acid lipase deficiency (LAL-D) causes progressive cholesteryl ester and triglyceride accumulation in the lysosomes of hepatocytes and monocyte-macrophage system cells, resulting in a systemic disease with various manifestations that may go unnoticed. It is indispensable to recognize the deficiency, which can present in patients at any age, so that specific treatment can be given. The aim of the present review was to offer a guide for physicians in understanding the fundamental diagnostic aspects of LAL-D, to successfully aid in its identification. METHODS: The review was designed by a group of Mexican experts and is presented as an orienting algorithm for the pediatrician, internist, gastroenterologist, endocrinologist, geneticist, pathologist, radiologist, and other specialists that could come across this disease in their patients. An up-to-date review of the literature in relation to the clinical manifestations of LAL-D and its diagnosis was performed. The statements were formulated based on said review and were then voted upon. The structured quantitative method employed for reaching consensus was the nominal group technique. RESULTS: A practical algorithm of the diagnostic process in LAL-D patients was proposed, based on clinical and laboratory data indicative of the disease and in accordance with the consensus established for each recommendation. CONCLUSION: The algorithm provides a sequence of clinical actions from different studies for optimizing the diagnostic process of patients suspected of having LAL-D.
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Doença de Wolman/diagnóstico , Algoritmos , Diagnóstico Diferencial , Humanos , México , Doença de Wolman/patologia , Doença de Wolman/fisiopatologia , Doença de WolmanRESUMO
Hepatocellular carcinoma (HCC) is the main primary liver malignancy. Its prevalence is increasing and is associated in 90% to cirrhotic patients. Hemoperitoneum secondary to spontaneous rupture of the tumor is an uncommon complication in Latin America and the Western world, being more prevalent in Asian races. However, it is associated to hemodynamic repercussion with high mortality, therefore high level of suspicion and early treatment are required. Regarding the management of the condition, in addition to hemodynamic stabilization, active hemostatic control is recommended over conservative management, transarterial chemoembolization being currently the chosen alternative. We present a series of three clinical cases of patients who debuted with clinical manifestation of hemoperitoneum during the diagnostic process of a HCC.
El carcinoma hepatocelular (CHC) corresponde a la principal neoplasia maligna primaria hepática. Su prevalencia va en aumento y se asocia en 90% a pacientes cirróticos. El hemoperitoneo secundario a rotura espontánea del tumor constituye una complicación infrecuente en Latinoamérica y Occidente, siendo más prevalente en razas asiáticas. Sin embargo, se asocia a repercusión hemodinámica con alta mortalidad, por lo que requiere un alto índice de sospecha y tratamiento oportuno precoz. En cuanto al manejo del cuadro, junto a la estabilización hemodinámica se recomienda un control hemostático activo por sobre manejo conservador, siendo la embolización transarterial la alternativa de elección actualmente. Describimos a continuación una serie de tres casos clínicos de pacientes que debutan con manifestación clínica de hemoperitoneo durante el proceso diagnóstico de un CHC.
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Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Carcinoma Hepatocelular/complicações , Hemoperitônio/etiologia , Hemoperitônio/terapia , Neoplasias Hepáticas/complicações , Ruptura Espontânea , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Carcinoma Hepatocelular/diagnóstico por imagem , Embolização Terapêutica , Neoplasias Hepáticas/diagnóstico por imagemRESUMO
The oviduct plays important roles in the early reproductive process. The aim of this study was to evaluate gene transcription and protein expression of progesterone receptor (PGR), estrogen receptors 1 (ESR1) and 2 (ESR2); oxytocin receptor (OXTR); prostaglandin F2α synthase (AKR1C3), and prostaglandin E2 synthase (Ptges) in mare oviduct in different estrous cycle stages. Estradiol (E2), progesterone (P4), oxytocin (OXT), and tumor necrosis factor α (TNF) effect on in vitro PGE2 and prostaglandin F2α (PGF2α) secretion by equine oviduct explants or by oviductal epithelial cells (OECs) were also assessed. During the breeding season, oviduct tissue was obtained post mortem from cyclic mares. Protein of ESR1, ESR2, PGR, AKR1C3, and Ptges was present in OECs, whereas OXTR was shown in oviduct stroma. In follicular phase, protein expression of ESR1, ESR2, PGR, and OXTR increased in oviduct explants (P < 0.05), whereas no estrous cycle effect was noted for AKR1C3 or Ptges. In follicular phase, mRNA transcription was upregulated for Pgr but downregulated for Oxtr, Ptges, and Akr1c3 (P < 0.05). Nevertheless, Esr1 and Esr2 mRNA levels did not change with the estrous cycle. In the ampulla, Esr1, Esr2, and Oxtr mRNA transcription increased, but not for Pgr or Ptges. In contrast, Akr1c3 mRNA level was upregulated in the infundibulum (P < 0.05). In follicular phase, E2, P4, and OXT downregulated PGE2 production by OEC (P < 0.05), but no difference was observed in mid-luteal phase. Explants production of PGE2 rose when treated with OXT in follicular phase; with TNF or OXT in early luteal phase; or with TNF, OXT, or P4 in mid-luteal phase. PGF2α production by OEC was downregulated by all treatments in follicular phase but upregulated in mid-luteal phase (P < 0.05). Oviduct explants PGF2α production was stimulated by TNF or OXT in all estrous cycle phases. In conclusion, this work has shown that ESR1, ESR2, OXTR, Ptges, and AKRLC3 gene transcription and/or translation is estrous cycle dependent and varies with oviduct portion (infundibulum vs ampulla) and cell type. Ovarian steroid hormones, OXT and TNF stimulation of PGF2α and/or PGE2 production is also estrous cycle dependent and varies in the different portions of mare oviduct. Differential transcription level and protein localization in various portions of the oviduct throughout the estrous cycle, as well as PG production, suggest coordinated physiologic actions and mechanisms of steroid hormones, OXT, and TNF in the equine oviduct.
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Cavalos/fisiologia , Ovário/metabolismo , Ocitocina/metabolismo , Fator de Necrose Tumoral alfa/fisiologia , Animais , Dinoprosta/metabolismo , Dinoprostona/metabolismo , Feminino , Regulação da Expressão Gênica/fisiologia , Oviductos/metabolismo , Prostaglandina-Endoperóxido Sintases/genética , Prostaglandina-Endoperóxido Sintases/metabolismo , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Receptores de Ocitocina/genética , Receptores de Ocitocina/metabolismo , Transcrição GênicaRESUMO
Introducción. El síndrome X frágil (SXF) es la causa más frecuente de discapacidad intelectual hereditaria y se asocia a un amplio espectro de enfermedades en las distintas generaciones de una misma familia. En este trabajo se revisan las manifestaciones clínicas de los trastornos asociados al X frágil y el espectro de mutaciones en el gen 1 del retraso mental del X frágil (FMR1), la neurobiología de la proteína del retardo mental X frágil (FMRP) y una visión general de los potenciales blancos terapéuticos y el asesoramiento genético. Desarrollo. Esta enfermedad es causada por una amplificación de las repeticiones CGG (>200 repeticiones) en la región 5 no traducida del gen FMR1, que lleva al déficit o ausencia de la proteína FMRP. La FMRP es una proteína de unión al ARN que regula la traducción de varios genes que son importantes en la plasticidad sináptica y la maduración dendrítica. Se cree que expansiones de las repeticiones CGG en el rango de premutación (55-200 repeticiones) generan un aumento en los niveles de mRNA de FMR1, lo que produciría toxicidad neuronal. Esto se manifiesta en problemas del desarrollo tales como autismo y problemas de aprendizaje, así como en patologías neurodegenerativas como el síndrome de temblor/ataxia asociado al X frágil (FXTAS). Conclusiones. Los avances en la identificación de las bases moleculares del SXF pueden servir como modelo para comprender las causas de las enfermedades neuropsiquiátricas y probablemente conducirán al desarrollo de tratamientos cada vez más específicos (AU)
Background. Fragile X syndrome, the most common inherited cause of intellectual disability, is associated with a broad spectrum of disorders across different generations of a single family. This study reviews the clinical manifestations of fragile X-associated disorders as well as the spectrum of mutations of the fragile X mental retardation 1 gene (FMR1) and the neurobiology of the fragile X mental retardation protein (FMRP), and also provides an overview of the potential therapeutic targets and genetic counselling. Development. This disorder is caused by expansion of the CGG repeat (>200 repeats) in the 5 prime untranslated region of FMR1, resulting in a deficit or absence of FMRP. FMRP is an RNA-binding protein that regulates the translation of several genes that are important in synaptic plasticity and dendritic maturation. It is believed that CGG repeat expansions in the premutation range (55 to 200 repeats) elicit an increase in mRNA levels of FMR1, which may cause neuronal toxicity. These changes manifest clinically as developmental problems such as autism and learning disabilities as well as neurodegenerative diseases including fragile X-associated tremor/ataxia syndrome (FXTAS). Conclusions. Advances in identifying the molecular basis of fragile X syndrome may help us understand the causes of neuropsychiatric disorders, and they will probably contribute to development of new and specific treatments (AU)
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Humanos , Masculino , Feminino , Deficiência Intelectual Ligada ao Cromossomo X/diagnóstico , Deficiência Intelectual Ligada ao Cromossomo X/tratamento farmacológico , Deficiência Intelectual/genética , Transtorno Autístico/genética , Metilação de DNA/genética , Proteína do X Frágil da Deficiência Intelectual/análise , Proteína do X Frágil da Deficiência Intelectual/administração & dosagem , Proteína do X Frágil da Deficiência Intelectual/genética , Neurobiologia/métodos , Deficiência Intelectual/diagnóstico , Transtorno Autístico/complicações , Neuropatologia/métodosRESUMO
BACKGROUND: Fragile X syndrome, the most common inherited cause of intellectual disability, is associated with a broad spectrum of disorders across different generations of a single family. This study reviews the clinical manifestations of fragile X-associated disorders as well as the spectrum of mutations of the fragile X mental retardation 1 gene (FMR1) and the neurobiology of the fragile X mental retardation protein (FMRP), and also provides an overview of the potential therapeutic targets and genetic counselling. DEVELOPMENT: This disorder is caused by expansion of the CGG repeat (>200 repeats) in the 5 prime untranslated region of FMR1, resulting in a deficit or absence of FMRP. FMRP is an RNA-binding protein that regulates the translation of several genes that are important in synaptic plasticity and dendritic maturation. It is believed that CGG repeat expansions in the premutation range (55 to 200 repeats) elicit an increase in mRNA levels of FMR1, which may cause neuronal toxicity. These changes manifest clinically as developmental problems such as autism and learning disabilities as well as neurodegenerative diseases including fragile X-associated tremor/ataxia syndrome (FXTAS). CONCLUSIONS: Advances in identifying the molecular basis of fragile X syndrome may help us understand the causes of neuropsychiatric disorders, and they will probably contribute to development of new and specific treatments.
Assuntos
Ataxia/genética , Proteína do X Frágil da Deficiência Intelectual/genética , Proteína do X Frágil da Deficiência Intelectual/farmacologia , Síndrome do Cromossomo X Frágil/genética , Tremor/genética , Ataxia/diagnóstico , Transtorno Autístico , Síndrome do Cromossomo X Frágil/diagnóstico , Humanos , Deficiência Intelectual , Mutação/genética , RNA Mensageiro , Tremor/diagnósticoRESUMO
The airway often provides predictable or in some instances unexpected situations depending the different scenarios like the emergency, the operating room or critical patient units. The challenge is to ensure proper management of the airway in these different situations of varying complexity. Therefore, planning based on what anesthetists call difficult airway will allow us to anticipate different ventilation and airway situations. This will then allow us conduct a judicious collaborative management of these situations with an emphasis on planning the different devices to be used as well as considering at any time the aid of the processes of intubation and mechanical ventilation connection in pediatric critical patients.
La vía aérea representa una situación que a menudo ofrece desafíos previsibles o en algunas situaciones inesperados, en diferentes escenarios tanto en la urgencia, pabellón como en unidades de paciente crítico. El desafío es lograr un adecuado manejo de la vía aérea en diferentes situaciones de menor a mayor complejidad, por lo cual, una planificación basada en lo que los anestesistas llaman vía aérea difícil nos permitirá prever diferentes situaciones de ventilación y vía aérea complicada que nos permitirán realizar un manejo juicioso, en equipo, dando énfasis en la planificación de los diferentes dispositivos a usar, como también a considerar la ayuda en cualquier momento del proceso de intubación y conexión a ventilación mecánica en pacientes críticos.
Assuntos
Humanos , Criança , Unidades de Terapia Intensiva Pediátrica , Intubação Intratraqueal/métodos , Máscaras Laríngeas , Cuidados CríticosRESUMO
Male 12-year-old patient presenting urethrorrhagia after straddle injury associated to hemodynamic instability secondary to traumatic formation of pseudoaneurysm of the pudendal artery in the bulb of the penis. Satisfactory treatment with angiographic selective and direct percutaneous embolization was performed, with resolution of the bleeding.
RESUMO
BACKGROUND: In addition to obesity, low birth weight (LBW) has been proposed as another independent risk factor associated with cardiovascular disease and type 2 diabetes mellitus. OBJECTIVE: This study aimed to evaluate the influence of birth weight on abdominal fat distribution, adipocytokine levels and associated metabolic alterations in obese children. METHODS: A cross-sectional study was conducted in 92 children. Children were divided into three groups according to their body mass index and birth weight. Glucose and insulin (0 and 120 min), lipid profile and adipocytokines were measured. Abdominal fat distribution was assessed by magnetic resonance imaging. RESULTS: Obese LBW children had higher fasting glucose (P = 0.054) and insulin (P < 0.001), and 120 min glucose (P < 0.001) and insulin levels (P < 0.001), such as increased HOMA-IR (homeostasis model assessment of insulin resistance index) (P < 0.001). Obesity and LBW were associated with lower concentrations of high molecular weight (HMW) adiponectin (-2.38 [IC 95% -4.27; -0.42, P = 0.018]) and higher subcutaneous adipose tissue (SAT) (28.05 [IC 95% 0.40; 55.7, P = 0.047]) compared with NBW obese children, independent of age or sex. CONCLUSIONS: LBW in obese children is associated with lower HMW adiponectin, increased insulin resistance and greater SAT.
Assuntos
Gordura Abdominal/metabolismo , Adipocinas/sangue , Peso ao Nascer , Recém-Nascido de Baixo Peso/metabolismo , Obesidade Infantil/metabolismo , Glicemia/análise , Índice de Massa Corporal , Criança , Estudos Transversais , Feminino , Humanos , Insulina/sangue , Resistência à Insulina , Lipídeos/sangue , MasculinoRESUMO
BACKGROUND: Recurrence of hepatocellular carcinoma (HCC) and cirrhosis after a liver transplantation (LT) is a major concern, and a strict Milan criteria selection of candidates does not accurately discriminate the relapse rate after LT. PURPOSE: This study sought to analyze the risk factors affecting tumor recurrence after LT for related cirrhosis HCC and the application of the French prognostic model (preLT alpha-fetoprotein [AFP], size, number) in a single center. METHODS: In a retrospective observational study of LT for HCC and cirrhosis, clinicopathological features were analyzed. Also, the preoperative and postoperative AFP model score was calculated with a cutoff of 2. RESULTS: Of 480, 109 patients underwent cadaveric LT for HCC. Eight of them had a relapse (7%). High AFP level, AFP model score >2, high pathological tumor-node-metastasis (pTNM) stage, poor differentiation, macrovascular-microvascular invasion, infiltration, and R1 margin were statistically significant (P < .05) for recurrence. Also, in the preoperative model, AFP score >2 was a predictor of worse survival (1-, 3-, 5-, 10-year survival of 81%, 51%, 30%, 30% vs 90%, 76%, 73%, 69% in ≤2, with P = .005). Regarding the postoperative model, similar results were found (1-, 3-, 5-, 10-year survival of 84%, 47%, 37%, 37% vs 90%, 78%, 73%, 52%, P = .028) between AFP model score >2 and ≤2, respectively. However, Milan and up-to-7 criteria were not accurate in recurrence nor in survival. CONCLUSIONS: The French AFP model has proven to be a more discerning prognostic tool than other established criteria in the prediction of recurrence and survival. Also, in postoperative prognosis, pathological risk factors for relapse such as pTNM, differentiation grade, macrovascular-microvascular invasion, infiltration, and R1 margin have been predictors of recurrence.