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Spondylocarpotarsal synostosis syndrome (SCT) is a very rare skeletal dysplasia characterized by vertebral, carpal, and tarsal fusion; growth retardation; and mild dysmorphic facial features. Variants in FLNB, MYH3, and RFLNA have been implicated in this dysplasia. We report the clinical and radiological follow-up of seven SCT pediatric cases associated with biallelic FLNB variants, from four Argentinian families. The seven cases share previously described facial characteristics: round facies, large eyes, and wide based nose; all of them had variable height deficit, in one case noted early in life. Other findings included clinodactyly, joint limitation without bone fusion, neurosensorial hearing loss, and ophthalmological compromise. All cases presented with spinal fusion with variable severity and location, carpal bones coalition, and also delay in carpal ossification. The heterozygous carrier parents had normal height values to -2.5 score standard deviation, without skeletal defects detected. Three different FLNB variants, one nonsense and two frameshift, were detected, all of which were predicted to result in a truncated protein or are degraded by nonsense mediated decay. All cases had at least one copy of the nonsense variant, c.1128C> G; p. (Tyr376*), suggesting the presence of a common ancestor.
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Pancreatite , Doença Aguda , Fidelidade a Diretrizes , Humanos , Pancreatite/diagnóstico , Pancreatite/terapiaRESUMO
Diabetic neuropathy (DN) encompasses a group of clinical or subclinical manifestations involving a dysfunction in the peripheral nervous system. The cause of the dysfunction is the development of microvascular complications related to diabetes, a disease that affects about 381 million people worldwide. Approximately 50% of patients currently diagnosed with diabetes are expected to manifest DN in the next 10 years. The diagnosis can be made clinically by establishing a good patient history and delving into the symptoms to rule out other etiologies. Treatment of DN focuses on glycemic control and the use of medications to reduce pain, including NSAIDs, antidepressants and antiepileptic drugs. The pathogenesis is of multifactorial origin, associated with various metabolic, vascular, inflammatory and neurodegenerative disorders. The three fundamental cellular alterations participating in the development of DN are chronic inflammation, endothelial dysfunction and oxidative stress. Since the combination of all three is capable of giving rise to nerve ischemia and direct axonal injury, these factors play a key role in the development of polyneuropathy. However, neuronal and microvascular changes do not occur in the same way in all patients with DN, some of whom have no detectable blood abnormalities.
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Diabetes Mellitus , Neuropatias Diabéticas , Neuropatias Diabéticas/diagnóstico , Neuropatias Diabéticas/tratamento farmacológico , Humanos , Inflamação/complicações , Estresse OxidativoRESUMO
Studies evaluating the influence of health literacy on patient behavior and outcomes suggest a positive relationship between health literacy and health knowledge, health behaviors, and health status. In Latin American countries, studies assessing health literacy are few, regional, and demonstrate considerable variation, with reported rates of adequate health literacy ranging from 5.0% to 73.3%. In this paper, we examine and explore the state of health literacy and efforts to promote it in Latin America. Key challenges to those efforts include socioeconomic inequality, social/geographic isolation, and cultural-, language-, and policy-related barriers, many of which disproportionately affect indigenous populations and others living in rural areas. Greater use of infographics, videos, and mobile apps may enhance health literacy and patient empowerment, especially when language barriers exist. This paper provides strategies and tools for tailored programming, examples of successful health literacy interventions, and policy recommendations to improve health literacy in Latin America, intending to spur additional discussion and action. Centrally organized collaboration across multiple sectors of society, with community involvement, will enhance health literacy and improve health and well-being across Latin America.
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Letramento em Saúde , Participação da Comunidade , Humanos , América LatinaRESUMO
Generation 4 of polyamidoamine dendrimer (G4-PAMAM) has several biological effects due to its tridimensional globular structure, repetitive branched amides, tertiary amines, and amino-terminal subunit groups liked to a common core. G4-PAMAM is cytotoxic due to its positive charges. However, its cytotoxicity could increase in cancer cells due to the excessive intracellular negative charges in these cells. Furthermore, this work reports G4-PAMAM chemical structural characterization using UHPLC-QTOF-MS/MS (LC-MS) by electrospray ionization to measure its population according to its positive charges. Additionally, the antiproliferative effects and intracellular localization were explored in the HMC-1 and K-562 cell lines by confocal microscopy. The LC-MS results show that G4-PAMAM generated multivalent mass spectrum values, and its protonated terminal amino groups produced numerous positive charges, which allowed us to determine its exact mass despite having a high molecular weight. Additionally, G4-PAMAM showed antiproliferative activity in the HMC-1 tumor cell line after 24 h (IC50 = 16.97 µM), 48 h (IC50 = 7.02 µM) and 72 h (IC50 = 5.98 µM) and in the K-562 cell line after 24 h (IC50 = 15.14 µM), 48 h (IC50 = 14.18 µM) and 72 h (IC50 = 9.91 µM). Finally, our results showed that the G4-PAMAM dendrimers were located in the cytoplasm and nucleus in both tumor cell lines studied.
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Dendrímeros/farmacologia , Leucemia/tratamento farmacológico , Leucemia/metabolismo , Nylons/farmacologia , Antineoplásicos/análise , Antineoplásicos/farmacocinética , Antineoplásicos/farmacologia , Linhagem Celular Tumoral , Cromatografia Líquida , Dendrímeros/análise , Dendrímeros/farmacocinética , Ensaios de Seleção de Medicamentos Antitumorais/métodos , Humanos , Concentração Inibidora 50 , Espaço Intracelular/efeitos dos fármacos , Espaço Intracelular/metabolismo , Células K562 , Leucemia/patologia , Nylons/análise , Nylons/farmacocinética , Espectrometria de Massas por Ionização por Electrospray , Espectrometria de Massas em Tandem , Distribuição TecidualRESUMO
River regime has been modified in several freshwater bodies around the world. This alteration has led to species loss, water pollution, higher or lesser economic profits, changes in magnitude, timing, duration and rate change of flow, among others. Thus, hydrologic alteration assessment allows evaluating the regime parameters so that stakeholders, decision-makers, and dams managers may take efficient actions to mitigate or rehabilitate riparian ecosystems. In the present study, Hydrologic Alteration Indexes on Rivers (IAHRIS, for its acronym in Spanish) and the Mexican standard approach were considered to evaluate 1150 gauged catchments in Mexico and come up with an alteration baseline for 67.03% of the country surface. The comparison may assist stakeholders to propose potential changes in the Mexican standard approach. Results reveal that 232 analyzed catchments can be considered as non-altered according to IAHRIS. In stark contrast, there are 281 non-altered catchments in Mexico in agreement with the official standard approach. Altered catchments are mainly impacted by minimum flow metrics and connectivity discharge. Additionally, the correlation between alteration indexes and 5 socio-economic variables was checked to identify which variables may greatly impact hydrologic alteration evolution or mitigation. From the five selected variables, the Human Development Index is significatively correlated to extreme minimum metrics (pâ¯=â¯0.94) while the Gross Domestic Product to extreme maximum metrics (pâ¯=â¯0.90).
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El 2 de diciembre de 2019 se presentó la Agenda Nacional de Investigación en Salud Pública en el Ministerio de Salud de Argentina. El establecimiento de prioridades en una Agenda Nacional de Investigación en Salud Pública es un proceso sistemático, participativo y reflexivo, que permite guiar la investigación hacia problemas relevantes, prevalentes y emergentes de la población, orientar los recursos hacia los temas priorizados, fortalecer y/o crear grupos, centros y redes de investigación para la salud pública, mejorar las capacidades para el desarrollo de investigación de calidad e incrementar la evidencia local para la toma de decisiones a fin de mejorar la salud de la población y los sistemas sanitarios en el marco de los Objetivos de Desarrollo Sustentable 2030. Como metodología para la elaboración de la Agenda se eligió el Método Delphi modificado por la Organización Panamericana de la Salud (OPS). En la elaboración de esta herramienta participaron la Dirección de Investigación para la Salud (DIS) del Ministerio de Salud de la Nación, a través de la Red Ministerial de Investigación en Salud (REMINSA), y la OPS. A lo largo de todo el proceso se consideró imprescindible lograr una amplia participación de actores de los niveles provinciales y nacionales, y de los sectores público y privado. La presencia de una Agenda Nacional de Investigación en Salud Pública permitirá generar investigación científica nacional y regional, e implementar políticas y recomendaciones que impacten en la salud de las poblaciones
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Agenda de Prioridades em Saúde , Agenda de Pesquisa em SaúdeRESUMO
Resumen: Debido a que la alteración electrolítica en la enfermedad renal crónica más importante es la hipercalemia, se realizó una revisión de la bibliografía respecto del tratamiento de la misma en pacientes con enfermedad renal crónica en terapia dialítica. Se analizaron artículos seleccionados en PubMed Central, EBSCO, Medlineplus, SciELO bajo el título hiperkalemia, hyperkalemia management, hyperkalemia treatment e hiperkalemia aguda y crónica (causa, epidemiología, métodos diagnósticos y métodos de tratamientos clásicos y actuales). Se analizaron diversos artículos de revisión y artículos de tratamiento en etapa prediálisis y en terapia dialítica; se analizaron los artículos que definieron la hipercalemia como la elevación mayor a 5 mEq/L en suero y que consideraron causa la excesiva ingesta de potasio, el desplazamiento extracelular y la alteración en la eliminación de potasio en los riñones, incluidas las manifestaciones clínicas y de laboratorio. Tambien se incluyó el análisis de artículos que asociaron la hipercalemia con la aparición de la insuficiencia renal, insuficiencia cardiaca y con la administración de medicamentos, incluidos los inhibidores del sistema renina angiotensina aldosterona, diuréticos ahorradores de potasio y antinflamatorios no esteroides. Las opciones de tratamiento de la hipercalemia en la enfermedad renal crónica continúan siendo limitadas a pesar del desarrollo de nuevos medicamentos, por lo que el objetivo del tratamiento en la hipercalemia aguda y crónica es revertir los efectos adversos principalmente en el corazón, desplazando el potasio a nivel intracelular, eliminando el potasio a nivel corporal, disminuyendo los síntomas y normalizando las concentraciones séricas del mismo.
Abstract Since the most important electrolytic alteration in chronic kidney disease is hyperkalemia, a review of the literature was conducted in the management of renal hyperkalemia in patients with chronic kidney disease and in dialysis therapy. Analysis of selected articles in PubMed Central, EBSCO, Medlineplus, SciELO under the title hyperkalemia, hyperkalemia management, hyperkalemia treatment and acute and chronic hyperkalemia (etiology, epidemiology, diagnostic methods and methods of classic and current treatments). Various review articles and treatment articles were analyzed in the pre-dialysis and dialysis stages. The articles that defined hyperkalemia as an elevation greater than 5 mEq/L in serum were analyzed and considered the etiology of excessive potassium intake, extracellular displacement and alteration in the elimination of potassium at the renal level, including clinical and laboratory manifestations. Also included was the analysis of articles that associated hyperkalemia with the development of renal failure, heart failure and with the use of drugs including renin angiotensin aldosterone system inhibitors, potassium-sparing diuretics and non-steroidal anti-inflammatory drugs. Treatment options for hyperkalemia in chronic kidney disease continue to be limited despite the development of new drugs, so the goal of treatment in both acute and chronic hyperkalemia is to reverse adverse effects primarily at the cardiac level, potassium at the intracellular level, eliminating the potassium at the corporal level, diminishing the symptoms and normalizing the serum concentrations of the same.
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SETTING: Mexico City, Mexico. OBJECTIVE: To identify proteins synthetised by Mycobacterium tuberculosis in hypoxic culture, which resemble more closely a granuloma environment than aerobic culture, and to determine if they are recognised by antibodies from patients with active pulmonary tuberculosis (PTB). DESIGN: Soluble extracts from M. tuberculosis H37Rv cultured under aerobic or hypoxic conditions were analysed using two-dimensional polyacrylamide gel electrophoresis, and proteins over-expressed under hypoxia were identified by mass spectrometry. The presence of immunoglobulin (Ig) G, IgA and IgM antibodies against these proteins was determined in the serum of 42 patients with active PTB and 42 healthy controls. RESULTS: We selected three M. tuberculosis H37Rv proteins (alpha-crystallin protein [Acr, Rv2031c], universal stress protein Rv2623 and isocitrate lyase [ICL, RV0467]) that were over-expressed under hypoxia. Titres of anti-Acr and anti-ICL IgA antibodies were higher in patients than in healthy controls, with an area under the receiver operating characteristic curve of 0.71 for anti-ICL IgA antibodies. CONCLUSION: ICL could be used in combination with other M. tuberculosis antigens to improve the sensitivity and specificity of current serological TB diagnostic methods.
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Anticorpos Antibacterianos/sangue , Imunoglobulina A/sangue , Isocitrato Liase/imunologia , Tuberculose Pulmonar/diagnóstico , alfa-Cristalinas/imunologia , Adulto , Idoso , Antígenos de Bactérias/sangue , Estudos de Casos e Controles , Feminino , Humanos , Imunoglobulina G/sangue , Imunoglobulina M/sangue , Masculino , México , Pessoa de Meia-Idade , Mycobacterium tuberculosis/isolamento & purificação , Sensibilidade e Especificidade , Tuberculose Pulmonar/sangue , Adulto JovemRESUMO
La cirugía bariátrica, en sus diferentes modalidades, es una técnica empleada cada vez más en el manejo de los pacientes con obesidad. La cirugía de manga gástrica es una técnica restrictiva utilizada ampliamente y que presenta buenos resultados; sin embargo, al igual que cualquier otro procedimiento, no está exento de complicaciones. En este artículo se indica una manera precisa de evaluar el volumen del remanente gástrico, ya que el incremento de este posterior a la cirugía de manga gástrica es una de las principales causas por las cuales no hay pérdida de peso luego este procedimiento.
Bariatric surgery, through its various forms, is a technique which is increasingly used in the management of patients with obesity. The gastric sleeve is a widely used restrictive technique and it has good results, however, like any other procedure is not exempt of complications. This paper discusses an accurate measurement of gastric pouch, since its increased size is a major cause of absence of weight loss after this procedure.