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Antecedentes: El Shock Cardiogénico (SC) y las Angioplastías de Alto Riesgo (AAR) están asociadas con altas tasas de mortalidad. El uso del dispositivo Impella CP podría reducir el riesgo de muerte en estos escenarios. En Chile no existen reportes evaluando el uso del dispositivo Impella CP. Objetivo: Analizar los desenlaces clínicos en pacientes que fueron sometidos al uso del dispositivo Impella CP por SC o por AAR. Métodos: Se realizó un estudio retrospectivo en 17 pacientes, los cuales representan el total de implantes realizados en el país, entre octubre 2021 y agosto 2023. Se describió las características, demográficas, procedimentales y después del implante. Se estimó la mortalidad general y se identificaron factores asociados. Resultados: La edad de los pacientes fue 69± 3,7 años y 88,2% fueron hombres. El 64,7% recibió el dispositivo por SC y 35,3% por AAR. Dentro de las comorbilidades estudiadas, la hipertensión arterial fue la más frecuente, 94,1%. Un 58,8% de los pacientes fueron revascularizados a través de la arteria radial. El 29,4% recibió el dispositivo previo a la angioplastía y 70,6% lo recibió después. El 47,1% de las angioplastías fue guiada por imágenes. En 11,8% de ellos se realizó litotricia intracoronaria y 5,9% por ablación intracoronaria. Los pacientes estuvieron 13 ±3,4 días con el soporte. La mortalidad global fue de 41,2%. Conclusiones: El uso del dispositivo Impella presentó pocas complicaciones vasculares. La mortalidad asociada con su colocación en Chile fue relativamente similar con la reportada en la literatura.
Background: Cardiogenic shock and high-risk Angioplasty are associated with a high mortality rate. Using the Impella CP device could reduce the risk of death in these scenarios. In Chile, there are no studies evaluating the use of the Impella CP device. Objective: To analyse the clinical outcomes in patients who have undergone placement of the Impella CP device for cardiogenic shock and high-risk angioplasties. Methods: A retrospective study was carried out on 17 patients, which represent the total number of implants performed in the country, between October 2021 and August 2023. The demographic, procedural and post-implant characteristics were described. Overall mortality and associated factors were identified. Results: The age was 69± 3.7 years, where 88.2% were men. 64.7% of patients received the device by SC and 35.3% by AAR. Among the comorbidities studied, arterial hypertension was the most frequent with 94.1%. 58.8% of patients were revascularized through the radial artery. 29.4% of patients received the device before angioplasty and 70.6% received it afterwards. 47.1% of angioplasties were image-guided, 11.8% had intracoronary lithotripsy, and 5.9% had intracoronary ablation. The patients spent 13 ±3.4 days with the support. Overall mortality was 41.2%. Conclusion: use of the Impella device was associated with few vascular complications. Mortality associated with use of the Impella device in Chile was similar to that previously reported in other studies.
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Los transportadores de monocarboxilatos (MCT) permiten el ingreso celular de hormonas tiroideas, especialmente en el sistema nervioso central (SNC), donde son indispensables para el neurodesarrollo. La deficiencia de MCT8 produce la combinación de hipotiroidismo en SNC e hipertiroidismo periférico, caracterizada por T3 elevada. El único tratamiento actualmente disponible es el ácido 3,3',5-triyodotiroacético (TRIAC), un análogo de hormonas tiroideas que tiene como objetivo mejorar la tirotoxicosis periférica y prevenir la progresión del deterioro neurológico. En el presente artículo, se evalúan las características clínicas, imagenológicas, bioquímicas y genéticas de 4 pacientes con deficiencia de MCT8 tratados con TRIAC hasta la fecha, las dosis utilizadas y la respuesta al tratamiento.
Monocarboxylate transporters (MCTs) allow the cellular entry of thyroid hormones, especially into the central nervous system (CNS), where they are crucial for neurodevelopment. MCT8 deficiency results in the combination of hypothyroidism in the CNS and peripheral hyperthyroidism, characterized by elevated T3 levels. The only treatment currently available is 3,3',5-triiodothyroacetic acid (TRIAC), a thyroid hormone analogue aimed at improving peripheral thyrotoxicosis and preventing the progression of neurological impairment. Here we assess the clinical, imaging, biochemical, and genetic characteristics of 4 patients with MCT8 deficiency who have received TRIAC to date, the doses used, and the response to treatment.
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Humanos , Lactente , Criança , Simportadores/genética , Hormônios Tireóideos , Tri-Iodotironina , Transportadores de Ácidos Monocarboxílicos/genéticaRESUMO
La biolixiviación, usando consorcios microbianos, es considera una alternativa ecoeficiente y de bajo costo para la recuperación de metales a partir de minerales de baja ley. En este estudio, se realizó la caracterización fisiológica y molecular de consorcios microbianos psicrotolerantes lixiviantes (CMPL), aislados de drenajes ácidos de minas de cuatro localidades mineras de las provincias de Pasco y Huarochirí, Perú, ubicados sobre los 4200 m de altitud. Se aislaron seis consorcios adaptados a medio 9K con ion ferroso y medio basal 9K con CuS al 0.5% p/v a 15 °C. Se evidenció la liberación de cobre en todos los consorcios. El CMPL con mejor crecimiento, presentó una recuperación de cobre de 12.47% en 30 días de evaluación. Los análisis de la secuenciación del gen ARNr 16S de la comunidad bacteriana, mostraron que los CMPL están dominados por el género Acidithiobacillus, seguido de Acidiphilium. En conclusión, se obtuvieron consorcios que pueden ser aplicados en biolixiviación de cobre en la minería altoandina.
Bioleaching, using microbial consortia, is regarded as an eco-efficient and cost-effective alternative for the recovery of metals from low-grade ores. In this study, we conducted physiological and molecular characterization of psychrotolerant leaching microbial consortia (PLMC) isolated from acid mine drainage in four mining sites within the Pasco and Huarochirí provinces of Peru, situated at altitudes above 4200 meters. Six consortia adapted to a medium containing ferrous ions (9K medium) and a basal medium with 0.5% w/v CuS at 15°C were isolated. All consortia exhibited copper release. The PLMC with the most robust growth achieved a copper recovery of 12.47% within 30 days of evaluation. 16S rRNA gene sequencing analysis of the bacterial community revealed that the PLMCs were predominantly dominated by the genus Acidithiobacillus, followed by Acidiphilium. In conclusion, consortia suitable for copper biolixiviation in high-altitude mining contexts were successfully obtained.
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Early T-cell precursor Acute Lymphoblastic Leukemia (ALL) has a dismal prognosis. Nelarabine is a purine nucleoside analog that increases the apoptosis rate in T-cell lymphoblasts. We present a 30-year-old patient diagnosed with T-cell ALL. He was a high-risk patient because of an early precursor phenotype and a complex karyotype that had been refractory to three previous lines of treatment. He started a course of nelarabine (1500 mg/m for three days), pegylated-asparaginase, doxorubicin, vincristine, and prednisone (Nelarabine Peg-Asp AdmVP). He reached complete remission and received an allogeneic sibling hematopoietic stem cell transplant with fludarabine, total body irradiation, and cyclophosphamide as the conditioning regimen. He developed a pulmonary mycosis, which resolved, and grade-2 neurotoxicity in his upper and lower limbs. He was discharged after 40 days and to date remains with 23 months of complete remission. The Nelarabine Peg-Asp AdmVP regimen seems to be effective and safe. Further research is needed to establish it as an induction treatment in refractory early T-cell precursor acute lymphoblastic leucemia.
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Trehalose is a type of carbohydrate that protects against different types of stress and is also used as a source of carbon storage in prokaryotes. There are four different ways of synthesizing trehalose in Acidithiobacillus ferrivorans and two in Acidithiobacillus ferrooxidans, but its purpose remains unknown. This study aimed to measure the production of trehalose under different conditions by quantifying it in three culture media at two different temperatures. The growth kinetics of both species were also assessed, and the trehalose concentration was analysed during the early stationary phase using an enzymatic method. The results showed that the modified 9K medium with ferrous iron at 28°C had the highest production of trehalose, with A. ferrivorans CF27 having a higher production of 0.34 µmol/mg protein compared to A. ferrooxidans ATCC 23270 at 0.31 µmol/mg protein. When using CuS, the production of trehalose was lower, with 0.02 and 0.03 µmol/mg protein for A. ferrivorans CF27 and A. ferrooxidans ATCC 23270, respectively, while no trehalose was detected in the presence of zinc. At 15°C, the enzymatic method did not detect any trehalose in all three culture media, this would indicate that this carbohydrate does not protect against low temperatures in either species.
La trehalosa es un tipo de carbohidrato, que en procariotas protege contra diferentes tipos de estrés y también se utiliza como fuente de almacenamiento de carbono. Hay cuatro formas diferentes de sintetizar trehalosa en Acidithiobacillus ferrivorans y dos en Acidithiobacillus ferrooxidans, pero su propósito sigue siendo desconocido. Este estudio tuvo como objetivo medir la producción de trehalosa en diferentes condiciones mediante su cuantificación en tres medios de cultivo a dos temperaturas diferentes. También se evaluó la cinética de crecimiento de ambas especies y se analizó la concentración de trehalosa durante la fase estacionaria temprana mediante un método enzimático. Los resultados mostraron que el medio 9K modificado con hierro ferroso a 28 °C tuvo la mayor producción de trehalosa, con A. ferrivorans CF27 con una mayor producción de 0.34 µmol/mg de proteína en comparación con A. ferrooxidans ATCC 23270 a 0.31 µmol/mg de proteína. Al utilizar CuS, la producción de trehalosa fue menor, con 0.02 y 0.03 µmol/mg de proteína para A. ferrivorans CF27 y A. ferrooxidans ATCC 23270, respectivamente, mientras que en presencia de zinc no se detectó trehalosa. A 15°C, el método enzimático no detectó trehalosa en los tres medios de cultivo, lo que indicaria que este carbohidrato no protege contra las bajas temperaturas en ninguna de las especies.
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Abstract The growth hormone receptor (GHR) mediates the effect of growth hormone (GH) on linear growth and metabolism. In humans, it exists as two isoforms differing by the retention or exclusion of exon 3; a full-length GHR isoform (GHRfl) and the exon 3-deleted isoform (GHRd3). The genotypic frequency of this polymorphism was analyzed in several studies and in different human populations. However scarce information in Argentinean population is available. Associations between GHRd3 and growth have been reported previously. Some studies have shown that the presence of GHRd3 polymorphism might be a potential variant that improves growth response to recombinant human GH (rhGH) therapy in patients born small for gestational age (SGA), among others. However, over the years the results have been controversial and inconclusive. Based on this, it would be proposed that variants at the genomic level are not completely reflected at the mRNA level. Our aim was to evaluate the genotypic frequencies (%) of the GHR gene polymorphism (GHRfl/GHRfl; GHRfl/GHRd3; GHRd3/GHRd3) in normal Argentinean population (n = 94) and SGA patients (n = 65), and the expression of these polymorphisms at mRNA level in the fetal side of placenta tissues was analyzed. In addition, their asso ciation with spontaneous postnatal catch-up growth in SGA patients was also evaluated. In this study, we show a significant increment of compensatory growth in small for gestational age children (SGA) associated to the presence of the GHRd3 allele polymorphism. In addition, the expression of GHR in healthy placentas revealed that no alternative splicing mechanism occurs.
Resumen El receptor de la hormona de creci miento (GHR) media la acción de la hormona de crecimiento (GH) en el crecimiento lineal y el metabolismo. En los seres humanos, existen dos isoformas que difieren en la retención (GHRfl) o exclusión del exón 3 (GHRd3). La frecuencia genotípica de este polimorfismo fue analizada en varios estudios y en diferentes poblaciones. Sin embargo, la información disponible en la población argentina es escasa. Se ha reportado anteriormente asociación entre el polimorfismo GHRd3 y el crecimiento. Varios estudios ha n demostrado que la presencia del polimorfismo GHRd3 podría mejorar, en pacientes nacidos pequeños para la edad gestacional, entre otros, la respuesta a la terapia con GH humana recombinante (rhGH). Sin embargo, a lo largo de los años los resultados han sido con trovertidos y no concluyentes. En base a esto, se propondría que las variantes a nivel genómico no se reflejan completamente a nivel del ARNm. Nuestro objetivo fue evaluar la frecuencia genotípica de los polimorfismos del gen del GHR (GHRfl/GHRfl; GHRfl/GHRd3; GHRd3/GHRd3) en la población argentina normal (n = 94) y en niños pequeños para la edad gestacional (n = 65), y se analizó la expresión de estos polimorfismos a nivel de ARNm en la porción fetal de placentas sanas. Además, se evaluó la asociación de este polimorfismo con el cre cimiento postnatal espontáneo en pacientes pequeños para la edad gestacional. En este estudio, mostramos un incremento significativo del crecimiento compensatorio en niños pequeños para la edad gestacional asociado a la presencia del polimorfismo del alelo GHRd3. Además, los ensayos de expresión de GHR en placentas sanas revelaron que no se produciría ningún mecanismo de splicing alternativo.
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Humanos , Feminino , Gravidez , Criança , Receptores da Somatotropina/genética , Hormônio do Crescimento Humano , Polimorfismo Genético , Proteínas de Transporte , Éxons , Idade GestacionalRESUMO
Background: In our country, transplantation centers differ in the age limit for allogeneic hematopoietic transplantation (ALOHT). In our program, transplants with age- adjusted conditioning are performed in patients until 70 years old. Currently more than 60% of ALOHT reported to the Center for International Bone Marrow Transplantation Research (CIBMTR) are performed in patients older than 40 years. Aim: To report our experience with ALOHT in acute myelogenous leukemia (AML), analyzing patient age at transplantation in different periods and transplant results in different age groups. Material and Methods: A retrospective analysis of the database of adult hematopoietic transplants in AML patients was performed. Demographic data, disease characteristics, transplant data, survival and relapse times, and mortality were collected. Results: In our program, 1030 transplants were performed in adults and 119 ALOHT were performed in AML patients, between 1990 and 2020. The median age of patients in all periods was 41 years, (range 16-69). The median age was 33 and 45 years, in the periods 1990-2000 and 2000-2020 respectively (p < 0.01). Seventy-eight patients received myeloablative conditioning (median age 44 years) and 41 reduced intensity conditioning (median age 53 years). Five-year overall survival was 44.6% (confidence intervals (CI) 41-48). Non relapse mortality of all periods was 19% (CI 17 - 40%) and relapse rate was 17 % (CI 16-22). No difference in five years overall survival among patients younger than 40, 41 to 50 and over 51 years was observed. Conclusions: Overall Survival, non-relapse mortality and relapse rate were similar in younger and older patients in our program and similar to those previously reported in other centers.
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Reintervention of a mitral degenerated bioprosthesis has a high surgical risk, especially in elderly patients with multiple comorbidities. We report a 74 years old female with two previous cardiac surgical procedures and a new structural mitral bioprosthesis deterioration with severe mitral regurgitation. Considering her high-surgical risk, a fully percutaneous treatment was performed with a balloon-expandable aortic valve in mitral position (valve-in-valve) through a transseptal approach with a favorable outcome. This technique is an attractive and effective option with a relatively low rate of complications that could solve this challenging and complex disease.
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Abstract Acidithiobacillus ferrivorans is a psychrotolerant acidophile capable of growing and oxidizing ferrous and sulphide substrates at low temperatures. To date, six genomes of this organism have been characterized; however, evidence of a plasmid in this species has been reported only once, whereby there is no conclusive role of the plasmids in the species. Herein, two novel plasmids of A. ferrivorans PQ33 were molecularly characterized and compared at a genomic scale. The genomes of two plasmids (12 kbp and 10 kbp) from A. ferrivorans PQ33 (NZ_LVZL01000000) were sequenced and annotated. The plasmids, named pAfPQ33-1 (NZ_CP021414.1) and pAfPQ33-2 (NZ_CP021415.1), presented 9 CDS and 13 CDS, respectively. In silico analysis showed proteins involved in conjugation (TraD, MobA, Eep and XerD), toxin-antitoxin systems (HicA and HicB), replication (RepA and DNA binding protein), transcription regulation (CopG), chaperone DnaJ, and a virulence gene (vapD). Furthermore, the plasmids contain sequences similar to phosphate-selective porins O and P and a diguanylate cyclase-phosphodiesterase protein. The presence of these genes suggests the possibility of horizontal transfer, a regulatory system of plasmid maintenance, and adhesion to substrates for A. ferrivorans species and PQ33. This is the first report of plasmids in this strain.
Resumen Acidithiobacillus ferrivorans es un acidófilo psicrotolerante capaz de hacer crecer y oxidar sustratos ferrosos y sulfurosos a bajas temperaturas. Hasta la fecha se han caracterizado seis genomas de este organismo; sin embargo, la evidencia de un plásmido en esta especie ha sido informado solo una vez, por lo que no hay un rol concluyente de los plásmidos en la especie. Aquí, dos plásmidos novedosos de A. ferrivorans PQ33 se caracterizaron molecularmente y se compararon a escala genómica. Se secuenciaron y anotaron los genomas de dos plásmidos (12 kpb y 10 kpb) de A. ferrivorans PQ33 (NZ_LVZL01000000). Los plásmidos, denominados pAfPQ33-1 (NZ_CP021414.1) y pAfPQ33-2 (NZ_CP021415.1), presentaron 9 CDS y 13 CDS, respectivamente. El análisis in silico mostró proteínas involucradas en la conjugación (TraD, MobA, Eep y XerD), sistemas de toxina-antitoxina (HicA y HicB), replicación (RepA y proteína de unión al ADN), regulación de la transcripción (CopG), chaperona DnaJ y un gen de virulencia (vapD). Además, los plásmidos contienen secuencias similares a las porinas selectivas de fosfato O y P y una proteína diguanilato ciclasa-fosfodiesterasa. La presencia de estos genes sugiere la posibilidad de transferencia horizontal, un sistema regulador de mantenimiento de plásmidos y adhesión a sustratos para especies de A. ferrivorans y PQ33. Este es el primer informe de plásmidos en esta cepa.
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El condrosarcoma de esternón es una neoplasia maligna poco frecuente que se presenta mayormente en adultos mayores de 50 años. El condrosarcoma grado 1 es el más frecuente dentro del grupo heterogéneo de tumores que entran en esta clasificación, sin embargo, tiene una presentación más frecuente en la región pélvica, en huesos largos del esqueleto apendicular y en la región costal. El hecho de presentarse en la región esternal puede comprometer la constitución de órganos cercanos. Debido a que la radioterapia y la quimioterapia tienen un escaso efecto terapéutico se procedió con la intervención quirúrgica donde se realizó la resección amplia del condrosarcoma esternal y la metastasectomía hepática, posteriormente se reconstruyó la pared torácica mediante placas de titanio y un colgajo microquirúrgico de músculo dorsal ancho derecho. El resultado final fue favorable. Se presenta el caso de un condrosarcoma convencional (grado 1) a nivel del apéndice xifoides con metástasis al hígado.
Sternum chondrosarcoma is an infrequent malignant neoplasm which occurs mainly in adults over 50 years old. Grade 1 chondrosarcoma is the most frequent among the heterogenous group of tumors that fall into this classification, however, it is most frequently presented in the pelvic region, in long bones of the appendicular skeleton and in the costal region. The fact that it presents in the sternal region compromises the constitution of nearby organs. Due to radiotherapy and chemotherapy having a scarce therapeutic effect, we proceeded with surgical intervention where a wide resection of the sternal chondrosarcoma and liver metastasectomy was performed, subsequently, the chest wall was rebuilt using titanium plates and microsurgical right dorsal muscle flap. The final result was favorable. We present a conventional chondrosarcoma (grade 1) case at the xyphoid process level with liver metastasis.
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Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder due to a deficiency of enzymes involved in cortisol biosynthesis. In more than 90% of cases, CAH is secondary to deleterious mutations in the CYP21A2 gene leading to 21-hydroxilase deficiency (21OHD). The CYP21A2 gene is located on the short arm of chromosome 6 (6p21·3) and encodes the cytochrome P450C21 enzyme. Neonatal screening programs detect the classic forms of CAH-21OHD quantifying 17OH-progesterone in dried blood spots (DBS). This test is very sensitive, but it has a low specificity, requiring a second sample to confirm the result. In these cases, a second-tier test in the same sample may be useful. Our aim was to evaluate a DNA extraction method from DBS and assess the performance of such DNA in the molecular analysis of the CYP21A2 gene mutations. Twelve individuals, who presumably had CAH based on the initial neonatal screening results, were analyzed using DNA extracted from freshly collected blood on EDTA and DBS. The CYP21A2 gene was analyzed by automated sequencing of all exons and intron boundaries and MLPA analysis in DBS. Molecular analysis results from both extraction methods were compared. In this study, we show that DNA extracted from neonatal screening DBS is a useful tool to define CYP21A2 gene mutations in 21-OHD diagnostic confirmation for the newborn screening program and that its results are comparable to traditional genotyping.
La hiperplasia suprarrenal congénita (HSC) es un desorden autosómico recesivo producido por la deficiencia de alguna de las enzimas involucradas en la biosíntesis de cortisol. Más del 90% se debe a mutaciones en el gen CYP21A2 que genera deficiencia de 21 hidroxilasa (21OHD). Este gen se encuentra en el brazo corto del cromosoma 6 (6p21·3) y codifica para la enzima citocromo P450C21. Los programas de pesquisa neonatal detectan la forma clásica de la HSC-21OHD cuantificando 17OH-progesterona en gota de sangre en papel de filtro (GSPF). Este test es muy sensible, pero tiene baja especificidad , por lo que se utiliza una segunda muestra para confirmar el resultado. En estos casos, una segunda determinación en la misma muestra podría ser de utilidad. Nuestro objetivo fue evaluar el método de extracción de ADN y posterior análisis molecular del gen CYP21A2 en muestras de GSPF. Analizamos doce individuos presumiblemente afectados por HSC en la pesquisa neonatal usando ADN extraído de sangre fresca recolectada sobre EDTA y de GSPF. Realizamos el análisis del gen CYP21A2 mediante secuenciación automática de todos los exones y regiones intrónicas flanqueantes y MLPA en GSPF, y comparamos los resultados con ambos métodos de extracción. En este estudio demostramos que el ADN extraído de GSPF es una herramienta muy útil para analizar las mutaciones del gen CYP21A2 en la confirmación diagnóstica de 21-OHD para los programas de pesquisa neonatal y que los resultados son comparables con la genotipificación tradicional.
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Humanos , Masculino , Feminino , Recém-Nascido , Esteroide 21-Hidroxilase/genética , Triagem Neonatal/métodos , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/genética , Teste em Amostras de Sangue Seco/métodos , Mutação , Valores de Referência , Espectrofotometria , Reação em Cadeia da Polimerase , Reprodutibilidade dos Testes , Idade Gestacional , 17-alfa-Hidroxiprogesterona/análise , AlelosRESUMO
Abstract Introduction Patients with benign or malignant blood disorders, who require allogeneic stem cell transplantation and lack an identical human leukocyte antigen HLA identicalHL sibling donor, could be transplanted with hematopoietic stem cells from unrelated adult or umbilical cord donors. However, in our country, both approaches are costly and time-consuming options. Methods Over the last few years, haploidentical modalities have been investigated as an alternative donor source, showing similar results to those obtained with identical HLA donors. We started using T-cell-replete haploidentical with post-transplant cyclophosphamide in 2012 and we presented our experience with patients undergoing haploidentical ransplantation compared to SIB. Results Since January 2012 to date, 91 allogeneic transplants have been performed, of which 49 were haploidentical and 42 were HLA identical. The mean age of the patients was 35 years (range: 17-62). The mean CD34/kg × 106 infused per group was 5.93 and 5.89, respectively. Time to granulocyte and platelet engraftment was 11 and 15 days, respectively, for haploidentical, and 12 and 14 days, respectively, for HLA identical (p = 0.10). The 100-day cumulative incidence of global acute GVHD was 34% for haploidentical and 29% for SIHLA identical (p = 0.9). The 2-year overall global graft-versus-host disease was 43% for haploidentical and 41% for HLA identical (p = 0.8). Overall survival, relapse, and transplant and relapse-related mortality were similar between both groups. Conclusion Our experience showed that haploidentical has similar outcomes to those obtained with HLA idential and can be performed in our country safely.
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Humanos , Masculino , Feminino , Adulto , Leucemia , Transplante Haploidêntico , Linfoma , Polyomavirus , Doença Enxerto-HospedeiroRESUMO
Abstract In the present work, we introduce the theoretical development and a new approach to validate a novel method to calibrate the efficiency of a gamma radiation detector for point sources, which we have named the "Efficiency Extrapolation Method". The method consists in the determination of the detector efficiency using a set of monoenergetic gamma sources, which we will refer to as reference efficiencies. From these values, we will extrapolate the detector efficiency to the complete energy range using the first principle physics of gamma radiation detection theory. Therefore the proposed method corresponds to a semi-empirical one. The determination of reference efficiencies must be done experimentally, but in this work, simulations were performed using FLUKA code. The reference energies will be: 59,54 keV, 661,66 keV and 1 274,54 keV associated to the isotopes 241Am, 137Cs and 22Na respectively. The second part of the method, the extrapolation from the reference energies to the gamma range, will be done over the energies emitted by 152Eu and 133Ba. In general, the results are very good. While the obtained results for energies 53,16 keV and greater than 344,3 keV show an excellent agreement, the results obtained for energies in the middle range are only good.
Resumen En el presente trabajo presentamos el desarrollo teórico y un nuevo enfoque para validar un nuevo método para calibrar la eficiencia de un detector de radiación gamma para fuentes puntuales, al cual hemos llamado el método de extrapolación de la eficiencia. El método consiste en la determinación de la eficiencia del detector usando un conjunto de fuentes gamma monoenergéticas, a las cuales llamaremos eficiencias de referencia. Desde estos valores, extrapolaremos la eficiencia del detector al rango completo de energías usando la física de primeros principios de la teoría de detección de radiación gamma. Por lo tanto el método propuesto corresponde a un método semiempírico. La determinación de las eficiencias de referencia debe hacerse experimentalmente, pero en este trabajo, se realizaron simulaciones usando el código FLUKA. Las energías de referencia serán: 59,54 keV, 661,65 keV y 1 274,54 keV asociadas a los isótopos 241 Am, 137Cs y 22Na respectivamente. La segunda parte del método, la extrapolación desde las energías de referencia hacia el rango gamma de las energías, será realizada sobre las energías emitidas por los isótopos 152Eu y 133Ba. En general, los resultados son muy buenos. Mientras que los resultados obtenidos para las energías de 53,16 keV y mayores que 344,3 keV muestran un excelente acuerdo, los resultados obtenidos para las energías del rango intermedio son solo buenas.
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Background: Balloon pulmonary angioplasty (BPA) is a therapeutic alternative for patients with inoperable chronic thromboembolic pulmonary hypertension (CTEPH). Aim: To report the initial experience with the "refined BPA technique" with the use of intravascular images. Patients and Methods: Between June 2015 and June 2016 we selected fourteen patients with CTEPH who were considered candidates for BPA. Lesions targeted for treatment were further analyzed using intravascular imaging with optical frequency domain imaging (OFDI). We report the immediate hemodynamic results and four weeks of follow-up of the first eight patients of this series. Results: We performed 16 BPA in eight patients aged 61 ± 14 years (88% women). Mean pulmonary artery pressure (PAPm) was 48.6 ± 5.8 mmHg. Success was achieved in seven patients (88%). A mean of 2.3 segments per patient were intervened in 11 sessions (1.6 sessions/ patient). Only one patient developed lung reperfusion injury. No mortality was associated with the procedure. After the last BPA session, PAPm decreased to 37.4 ± 8.6 mmHg (p=0.02). Pulmonary vascular resistance (RVP) decreased from 858,6 ± 377,0 at baseline to 516,6 ± 323,3 Dynes/sec/cm−5 (p<0.01) and the cardiac index increased from 2.4±0.6 at baseline to 2.8±0.3 L/min/m2 (p=0.01). At 4 weeks after the last BPA, WHO functional class improved from 3.3±0.5 to 2.5±0.5 (p<0,01) and six minutes walking distance from 331±92 to 451±149 m (p=0.01). Conclusions: BPA guided by OFDI for the treatment of inoperable CTEPH patients is a safe alternative with excellent immediate hemodynamic and clinical results.
Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Embolia Pulmonar/terapia , Angioplastia com Balão/métodos , Hipertensão Pulmonar/terapia , Embolia Pulmonar/fisiopatologia , Embolia Pulmonar/diagnóstico por imagem , Fatores de Tempo , Angiografia/métodos , Doença Crônica , Reprodutibilidade dos Testes , Resultado do Tratamento , Tomografia de Coerência Óptica/métodos , Hemodinâmica , Hipertensão Pulmonar/fisiopatologia , Hipertensão Pulmonar/diagnóstico por imagemRESUMO
RESUMEN De las aproximadamente 190 especies de Lutzomyia en el Perú, solo un reducido número han sido incriminadas como vectores de leishmaniasis tegumentaria en valles occidentales e interandinos: Lutzomyia (Lu.) peruensis, Lu. verrucarum, Lu. tejadai, Lu. ayacuchensis, Lu. pescei; mientras que en la región amazónica Lu. yuilli yuilli, Lu. chagasi, Lu. davisi y Lu. auraensis han sido encontradas infectadas naturalmente con Leishmania del subgénero Viannia. Lutzomyia auraensis constituye un nuevo reporte como vector potencial de leishmaniasis en regiones neotropicales. En relación a los vectores de la bartonellosis humana o enfermedad de Carrión, Lu. verrucarum y Lu. peruensis son los vectores principales y de más amplia distribución en regiones andinas del norte, centro y sur del Perú. Otros potenciales vectores de la enfermedad de Carrión son Lu. serrana en el valle del Monzón, Huamalíes, Huánuco, Lu. pescei en Apurímac y Cusco; Lu. robusta y Lu. maranonensis en las provincias de Jaén, San Ignacio y Utcubamba, selva alta del Perú. Debido a la alta prevalencia de la leishmaniasis y bartonellosis en el Perú y a su dispersión que sobrepasa los límites de las áreas endémicas conocidas, es necesario actualizar tanto la información como los mapas de distribución de los vectores de estas enfermedades, para contribuir con el mejoramiento de las medidas de prevención y control. La información existente sobre flebotomíneos vectores en el Perú ha sido reunida en este artículo.
ABSTRACT Among approximately 190 species of Lutzomyia in Peru, only a small number have been identified as vectors of tegumentary leishmaniasis in Western and inter-Andean valleys. These include L. peruensis, L. verrucarum, L. tejadai, L. ayacuchensis, and L. pescei. In the Amazon region, L. yuilli yuilli, L. chagasi, L. davisi, and L. auraensis are naturally infected, among the subgenera Leishmania and Viannia. L. auraensis is newly reported as a potential vector of leishmaniasis in neotropical regions. Among the primary and most widely distributed vectors of human bartonellosis or Carrión's disease, L. verrucarum and L. peruensis are predominant in the Andean regions of northern, central, and southern Peru. Other potential vectors of Carrion's disease are L. serrana in the Monzon Valley, Huamalies, and Huanuco; L. pescei in Apurímac and Cusco; and L. robusta and L. maranonensis in Jaén, San Ignacio, and Utcubamba provinces, and the high forests of Peru. Because of the high prevalence of leishmaniasis and bartonellosis outside of known endemic areas in Peru, it is necessary to update data and distribution maps of these disease vectors. This may improve both prevention and control measures. Existing information about sandfly vectors in Peru is also provided in this article.
Assuntos
Animais , Psychodidae , Infecções por Bartonella/transmissão , Leishmaniose/transmissão , Insetos Vetores , PeruRESUMO
En el presente trabajo se reporta la actividad inhibitoria del crecimiento bacteriano por nanopartículas de cobre cementado y de cobre comercial. Se utilizaron las cepas de Staphylococcus aureus ATCC 6538 (Gram positiva) y Escherichia coli ATCC 35218 (Gram negativa) para determinar el efecto inhibitorio mediante la concentración mínima inhibitoria de las nanopartículas diluidas en caldo de cultivo nutritivo y distribuidas en placas de ELISA. Las muestras de cobre cementado (obtenidas por procesos hidrometalúrgicos) y de cobre comercial fueron nanoestructuradas empleando un equipo de molienda mecánica. Los resultados indican que las nanopartículas de cobre comercial (a 2.5 horas de molienda) muestran acción inhibitoria del crecimiento de la cepa S. aureus y no así en la cepa E. coli. Asimismo, se determinó que la concentración mínima inhibitoria de la muestra de cobre comercial fue de 20 μg/mL frente a S. aureus. El cobre cementado (en su forma sólida y nanoestructurada) no mostró efecto inhibitorio del crecimiento en ninguna de las dos cepas estudiadas.
In this paper, we report on the bacterial growth inhibitory activity of nanoparticles of cemented and commercial copper. Strains of Staphylococcus aureus ATCC 6538 (Gram positive) and Escherichia coli ATCC 35218 (Gram negative) were used to determine the inhibitory effect by the minimal inhibitory concentration of the nanoparticles diluted in nutrient culture broth and distributed in ELISA plates. The copper cements (obtained from hydrometallurgical processes) and the commercial one were nanostructured employing a mechanical milling equipment. The results indicate that commercial copper nanoparticles (after 2.5 hours of milling) show growth inhibitory action of S. aureus strain. However, in the case of E. coli strains no inhibitory action has been observed. It was also determined that the minimal inhibitory concentration of the commercial copper is 20 μg/mL against S. aureus. On the other hand, copper cements (in solid and nanostructured form) do not show inhibitory effects.
RESUMO
Background: Patients undergoing hematopoietic cell transplantation (HCT) are at increased risk of developing osteoporosis. Aim: To determine the frequency and severity of Vitamin D deficiency, secondary hyperparathyroidism and low bone mass in patients undergoing HCT. Patients and Methods: Analysis of the database of patients undergoing HCT in our institution in the 2010-2015 period. We searched for patients with measurements of 25-OH vitamin D (25OHD), parathyroid hormone (PTH) and bone densitometry by double beam X ray absorptiometry (DXA) prior and up to one year after HCT. Results: Ninety patients were included, 53 were evaluated prior to HCT and 37 after HCT. They represent 73% of all patients undergoing HCT in the period. Median 25OHD was 12 ng/ml (range 4-41.4). Ninety seven percent of patients had levels considered insufficient and 85% compatible with deficiency. Median PTH was 60.5 pg/ml (range 21-186). Forty five percent of patients had secondary hyperparathyroidism. DXA was performed in 65 patients (prior to HCT in 54 and after HCT in 11). Of these, 11% had had a low bone mineral density. Conclusions: Patients undergoing HCT have a high risk of vitamin D deficiency, secondary hyperparathyroidism and low bone mineral density.
Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Adulto Jovem , Hormônio Paratireóideo/análise , Vitamina D/análise , Deficiência de Vitamina D/etiologia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Hiperparatireoidismo Secundário/etiologia , Osteoporose/etiologia , Densidade Óssea , Estudos RetrospectivosRESUMO
Several heterozygous GLI2 gene mutations have been reported in patients with isolated GH deficiency (IGHD) or multiple pituitary hormone deficiency (MPHD) with or without other malformations. The primary aim of this study was to analyze the presence of GLI2 gene alterations in a cohort of patients with IGHD or MPHD and ectopic/absent posterior pituitary. The coding sequence and flanking intronic regions of GLI2 gene were amplified and directly sequenced from gDNA of 18 affected subjects and relatives. In silico tools were applied to identify the functional impact of newly found variants (Polyphen2, SIFT, Mutation Taster). We identified two novel heterozygous missense variations in two unrelated patients, p.Arg231Gln and p.Arg226Leu, located in the repressor domain of the protein. Both variations affect highly conserved amino acids of the Gli2 protein and were not found in the available databases. In silico tools suggest that these variations might be disease causing. Our study suggests that the GLI2 gene may be one of the candidate genes to analyze when an association of pituitary hormone deficiency and developmental defects in posterior pituitary gland. The highly variable phenotype found suggests the presence of additional unknown factors that could contribute to the phenotype observed in these patients.
Mutaciones heterocigotas en el gen GLI2 fueron previamente comunicadas como causa de déficit aislado de hormona de crecimiento (IGHD) o déficit múltiple de hormonas hipofisarias (MPHD), con o sin otras malformaciones. El objetivo del estudio fue analizar la presencia de alteraciones en el gen GLI2 en un grupo de pacientes con IGHD o MPHD acompañado de neurohipófisis ectópica o ausente. La secuencia codificante y las regiones intrónicas flanqueantes del gen GLI2 fueron amplificadas y secuenciadas de manera directa a partir de ADN genómico extraído de sangre periférica proveniente de 18 sujetos afectados y sus familiares. Se utilizaron herramientas informáticas para predecir el impacto funcional de las nuevas variantes encontradas (Polyphen2, SIFT, Mutation Taster). Identificamos dos nuevas variantes heterocigotas con pérdida de sentido en dos pacientes no relacionados, p.Arg231Gln y p.Arg226Leu, localizadas en el dominio represor de la proteína. Estas variantes afectan aminoácidos altamente conservados en la secuencia proteica de GLI2 y no se encuentran informadas en las bases de datos disponibles. Las herramientas informáticas utilizadas sugieren que estas variantes pueden ser la causa del desarrollo de la enfermedad. Nuestro resultados indican que el gen GLI2 es uno de los genes candidatos a estudiar cuando existe una asociación entre déficit de hormonas hipofisarias y alteraciones en el desarrollo de la neurohipófisis. Se sugiere la existencia de otros factores adicionales que podrían contribuir a la variabilidad del fenotipo observado.
Assuntos
Humanos , Masculino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Hormônios Hipofisários/deficiência , Hormônio do Crescimento Humano/deficiência , Mutação de Sentido Incorreto , Fatores de Transcrição Kruppel-Like/genética , Fenótipo , Argentina , Adeno-Hipófise/anormalidades , Neuro-Hipófise/anormalidades , Íntrons , Proteína Gli2 com Dedos de Zinco , Heterozigoto , Microcefalia/diagnósticoRESUMO
ABSTRACT Objective: Describe the functional outcomes of patients with contained lumbar disc herniation (L4-L5, L5-S1) treated with manual percutaneous nucleotomy (MPN) and demonstrate that it remains a technique with good results. Methods: A prospective, longitudinal study with 110 patients contained with lumbar disc herniation (LDH) treated with (MPN). The evaluation was pre-surgical and 4, 30, 180 and 365 days after the surgery. We used Numeric Pain Scale (NPS), Oswestry Disability Index (ODI) and Macnab criteria. Descriptive and inferential statistics for differences. Results: N=110: 58 (52.72%) men, 52 (47.27%) women; average age 37.95 years (14-56) ± 10.60; most affected level: L4-L5 in 63 (57.14%) patients. NPS preoperative average: 7.75 (5-9) ± 1.12, and at 365 days: 2.14 (0-7) ± 2.37. The mean preoperative ODI was 37% (28%-40%) + 3.06, and at 365 days 9.52% (0%-40%) + 13.92. The prognosis (ODI) was good to 79 (71.81%) patients at 365 days, regular in 26 (23.63%) and poor in 5 (4.57%), corresponding respectively to patients with no, mild, moderate and severe disability. The Macnab criteria showed similar results (p = 0.00, 95% CI 0.00 to 0.13 - Student's t). Conclusions: The results were good at one-year follow-up (p = 0.00), demonstrating that the MPN is still a good option for lumbosciatic pain relief.
RESUMO Objetivos: Descrever os resultados funcionais dos pacientes com hérnia de disco lombar contida (L4-L5, L5-S1) tratada com nucleotomia percutânea manual (NPM) e demonstrar que continua sendo uma técnica com bons resultados. Métodos: Estudo prospectivo, longitudinal com 110 pacientes com hérnia de disco lombar (HDL) contida tratados com NPM. A avaliação foi pré-cirúrgica e 4, 30, 180 e 365 dias depois da operação; utilizamos Escala Numérica de Dor (END), Índice de Incapacidade Funcional de Oswestry (ODI) e critérios de Macnab. Estatística descritiva e inferencial para diferenças. Resultados: N = 110: 58 (52,72%) homens, 52 (47,27%) mulheres; média de idade 37,95 anos (14-56) ± 10,60; nível mais afetado: L4-L5 em 63 (57,14%) pacientes. END pré-operatório média: 7,75 (5-9) ± 1,12; aos 365 dias: 2,14 (0-7) 2,37. O ODI pré-operatório médio foi 37% (28%-40%) ± 3,06, e aos 365 dias 9,52% (0%-40%) ± 13,92. O prognóstico (ODI) foi bom em 79 (71,81%) pacientes aos 365 dias, regular em 26 (23,63%) e ruim em 5 (4,57%), correspondendo, respectivamente, a pacientes sem incapacidade ou leve, moderada e severa. Os critérios de Macnab mostraram resultados similares (p = 0,00, IC 95% 0,00-0,13 - t de Student). Conclusões: Os resultados foram bons em um ano de acompanhamento (p = 0,00), demonstrando que a NPM continua sendo uma boa opção para o alívio da dor lombociática por HDL.
RESUMEN Objetivos: Describir los resultados funcionales de los pacientes con hernia discal lumbar contenida (L4-L5, L5-S1) tratada con nucleotomía percutánea manual (NPM) y demostrar que continua siendo una técnica con buenos resultados. Métodos: Estudio prospectivo, longitudinal, con 110 pacientes con hernia discal lumbar (HDL) contenida tratados con NPM. La evaluación fue preoperatoria y a los 4, 30, 180 y 365 días después de operados; utilizamos la Escala Numérica del Dolor (END), Índice de Discapacidad Funcional de Oswestry (IDO) y criterios de Macnab. Estadística descriptiva e inferencial para diferencias. Resultados: N = 110: 58 (52,72%) hombres, 52 (47,27%) mujeres; edad promedio 37,95 años (14-56) + 10,60; nivel más afectado: L4-L5 en 63 (57,14%) pacientes. END preoperatorio promedio: 7,75 (5-9) + 1,12; a los 365 días: 2,14 (0-7) + 2,37. El IDO preoperatorio promedio fue 37% (28%-40%) + 3,06, y a los 365 días 9,52% (0%-40%) + 13,92. El pronóstico (IDO) fue bueno en 79 (71,81%) pacientes a los 365 días, regular en 26 (23,63%) y malo en 5 (4,57%), correspondientes a pacientes sin incapacidad o leve, moderada y severa respectivamente. Los criterios de Macnab mostraron resultados similares, (p = 0,00, IC 95% 0,00-0,13 - t de Student). Conclusiones: Los resultados fueron buenos al año de seguimiento (p = 0,00), demostrando que la NPM continua siendo una buena opción para el alivio del dolor lumbociático por HDL.
Assuntos
Humanos , Discotomia Percutânea , Dor Lombar , Deslocamento do Disco Intervertebral , Região LombossacralRESUMO
ABSTRACT Introduction: Nutritional support is pivotal in patients submitted to hematopoietic stem cell transplantation. Nutritional status has been associated with time of engraftment and infection rates. In order to evaluate the association between nutritional parameters and clinical outcomes after transplantation a cohort of transplant patients was retrospectively evaluated. Methods: All 50 patients transplanted between 2011 and 2014 were included. The nutritional status before transplantation, ten days after transplantation and before discharge was assessed including anthropometry, body mass index, albumin, prealbumin and total urinary nitrogen. Results: The median follow-up time was 41 months and the median age of patients was 41 years. Thirty-two underwent allogeneic and 18 autologous transplants. Diagnoses included acute leukemias (n = 27), lymphoma (n = 7), multiple myeloma (n = 13), and aplastic anemia (n = 3). Thirty-seven patients developed mucositis (three Grade 1, 15 Grade 2, 18 Grade 3 and one Grade 4), and twenty-two allogeneic, and five autologous transplant patients required total parenteral nutrition. Albumin and total urinary nitrogen were associated with length of hospital stay and platelet and neutrophil engraftment. None of the nutritional parameters evaluated were associated with overall survival. Non-relapse mortality was 14% and overall survival was 79% at 41 months of follow-up. Conclusions: After hematopoietic stem cell transplantation, high catabolism was associated with longer length of hospital stay, the need of total parenteral nutrition and platelet and neutrophil engraftment times. Nutritional parameters were not associated with overall survival.