Isolated metastasis in the thyroid gland secondary to renal cell carcinoma: case report / Metástasis aislada en glándula tiroides secundaria a carcinoma de células renales: reporte de caso

ABSTRACT Introduction: Metastatic disease of the thyroid corresponds to 2% of thyroid malignancies in autopsy series. Up to 50% of metastases are due to renal cell carcinoma (Ree). These can occur several years after diagnosis or nephrectomy. An isolated presence in the thyroid gland is rare. Clinical case presentation: We present the case of a 68-year-old woman with a history of Ree managed with nephrectomy and retroperitoneal lymphadenectomy. After 7 years free of symptoms, she noticed a mass over the thyroid region. Ultrasonography reported bilateral thyroid nodules. Due to the oncologic history and the affirmation of symptoms during swallowing, a full thyroidectomy was performed. The histopathological report was compatible with Ree metastasis. Discussion: The literature shows that the median time for thyroid metastasis in patients with Ree is 92 months. Most patients are asymptomatic, and a full thyroidectomy is recommended to prevent disease progression with a favorable impact on Survival. Conclusion: In patients with thyroid nodules and a history of Ree, metastasis should be suspected.

RESUMEN Introducción: La enfermedad metastásica a tiroides corresponde a 2% de las malignidades tiroideas en series de autopsias. Hasta el 50% de las metástasis se deben a carcinoma de células renales (Ree). Estas pueden ocurrir varios años después del diagnóstico o la nefrectomía. La presentación aislada en la glándula tiroides es rara. Presentación caso clínico: Presentamos el caso de una mujer de 68 años con historia de Ree manejada con nefrectomía y linfadenectomía retroperitoneal. Tras 7 años libre de síntomas notó la aparición de una masa sobre la región tiroidea. La ultrasonografía reportó nódulos tiroideos bilaterales. Por el antecedente oncológico y la afirmación de síntomas durante la deglución se le realizó tiroidectomía total. El reporte histopatológico fue compatible con metástasis de Ree. Discusión: La literatura muestra que el tiempo medio de metástasis a tiroides en pacientes con Ree es 92 meses. La mayoría de los pacientes son asintomáticos. Se recomienda la tiroidectomía total para prevenir progresión de la enfermedad con impacto favorable en la supervivencia. Conclusión: En los pacientes con nódulos tiroideos y antecedente de Ree se debe sospechar enfermedad metastásica.

Calidad de atención en el manejo de enfermedad cerebrovascular isquémica aguda posterior a la iniciativa angels / Acute ischemic cerebrovascular disease management quality of care following the adoption of the angels initiative

Introducción: el ataque cerebrovascular (ACV) es común a nivel mundial, una de cada cuatro personas puede presentarlo a lo largo de la vida. Constituye la segunda causa de muerte y la tercera principal de discapacidad. Es importante la atención integral para lograr un impacto en la calidad de vida. Objetivo: determinar la calidad de atención en el manejo del ACV isquémico agudo de los pacientes que consultaron al servicio de neurología en los Hospitales de San José e Infantil Universitario de San José, Bogotá DC, entre enero 1/2019 y enero 1/2020. Metodología: estudio descriptivo de corte transversal. El criterio de inclusión fue pacientes mayores de 18 años con diagnóstico de ACV isquémico. La información se recolectó de las historias clínicas, se empleó estadística descriptiva para analizar los datos. Resultados: se incluyeron 411 pacientes, 88,8% sin alteración del estado de conciencia, 26,4% ingresaron antes de las 4,5 horas de ventana para trombólisis, se realizaron procedimientos de recanalización endovenosa a 11,4%. El tiempo puerta aguja tuvo una mediana de 37,2 minutos comparado con la mediana nacional de tiempo que fue 56,5 min según lo registrado en la plataforma ResQ. El 72% recibió terapia antiagregante y estatina 88.8%. Discusión y conclusiones: al identificar los síntomas es importante ser estrictos en el tiempo de atención y la implementación de plataformas para óptimos planes de atención. Se requieren campañas masivas de educación, así como que planes de mejora institucionales.

Introduction: cerebrovascular attack (CVA) is common worldwide. One in four people may have a stroke during their lifetime. It is the second leading cause of death and the third leading cause of disability. Thus, it is important to provide integrated care to achieve an impact on quality of life. Objective: to determine ischemic CVA management quality of care among patients seen at the neurology service of the San José and Infantil Universitario de San José hospitals in Bogotá DC, between January 1/2019 and January 1/2020. Methodology: a descriptive, cross-sectional study. The inclusion criteria included patients over 18 years of age diagnosed with ischemic CVA. Information was collected from clinical records. Data was analyzed using descriptive statistics. Results: 411 patients were included; 88.8% had an altered state of consciousness, 26.4% were admitted within the 4.5-hour window for thrombolysis; 11.4% underwent intravenous reperfusion procedures. Door-to-needle time: median was 37.2 minutes versus the national media of 56.5 min according to the ResQ records platform; 72% received anti-platelet therapy and 88.8% received statins. Discussion and conclusions: the establishment of a strict time to care and the implementation of platforms to improve care plans, is essential. Massive education campaigns are required, as well as, institutional improvement plans.

Quality of care from the perspective of people obtaining abortion: a qualitative study in four countries.

OBJECTIVE: This qualitative study aimed to identify person-centred domains that would contribute to the definition and measurement of abortion quality of care based on the perceptions, experiences and priorities of people seeking abortion. METHODS: We conducted interviews with people seeking abortion aged 15-41 who obtained care in Argentina, Bangladesh, Ethiopia or Nigeria. Participants were recruited from hospitals, clinics, pharmacies, call centres and accompaniment models. We conducted thematic analysis and quantified key domains of quality identified by the participants. RESULTS: We identified six themes that contributed to high-quality abortion care from the clients' perspective, with particular focus on interpersonal dynamics. These themes emerged as participants described their abortion experience, reflected on their interactions with providers and defined good and bad care. The six themes included (1) kindness and respect, (2) information exchange, (3) emotional support, (4) attentive care throughout the process, (5) privacy and confidentiality and (6) prepared for and able to cope with pain. CONCLUSIONS: People seeking abortion across multiple country contexts and among various care models have confirmed the importance of interpersonal care in quality. These findings provide guidance on six priority areas which could be used to sharpen the definition of abortion quality, improve measurement, and design interventions to improve quality.

Pleural and pulmonary dissemination patterns from gastric adenocarcinoma among patients with treated primary disease in Latin America.

Purpose: Latin America is one of the regions with the highest incidence of gastric cancer. Even though, there are not reports about the patterns of pleuro-pulmonary metastases in patients with gastric adenocarcinoma treated with curative intent and the prognosis according to each dissemination pattern. Material and methods: We conducted a retrospective analysis of patients with gastric adenocarcinoma treated with curative intent at the National Cancer Institute (INC) between 2010 and 2017. Demographic variables, variables associated with the primary disease and variables associated with the presence of pleuro-pulmonary opacities and metastases were collected. A univariate and multivariate logistic regression analysis was performed and survival curves were presented using the Kaplan Meier method and compared using the log-rank test. A Cox regression model was performed for multivariate analysis for overall survival. Results: The study included 450 patients, 51.3% were male and the median age was 63 years. Intestinal adenocarcinoma was the most frequent histological subtype, in 261 cases (58.0%). Gastric cancer initial pathological stage was stage I in 23.3% of the patients, stage II in 19.3% and stage III in 53.6%. During a median follow-up of 31.9 months, 37 (8.2%) patients developed pleuro-pulmonary opacities; among those, 14 (3.1%) met the criteria for pleuro-pulmonary metastases: 6 (1.3%) had lymphangitic metastasis, 4 (0.9%) had a mixed pattern of pleural and lung nodules, 3 (0.7%) had pleural metastasis, and only one (0.2%) had hematogenous metastasis. The median OS was 114.5 months for the entire cohort and 38.2 (95%CI, 19.2-57.2) months for patients with pleuro-pulmonary metastases. Patients with pleural metastasis and lymphangitic carcinomatosis had median survival of 24.3 (95%CI, 0.01-51.0) and 26.4 (95%CI, 18.2-34.7) months, respectively. Conclusions: incidence of pleuro-pulmonary metastases in patients with gastric adenocarcinoma treated with curative intention was low. In our series, lymphangitic carcinomatosis was the main pattern of dissemination; meanwhile, hematogenous metastasis was rare and patients with pleural carcinomatosis had the lowest median survival.

Aspectos técnicos y clínicos de la prueba cruzada de histocompatibilidad en el trasplante de órganos solidos / Technical and clinical aspects of the histocompatibility crossmatch assay in solid organ transplantation

La presencia de anticuerpos dirigidos contra los antígenos leucocitarios humanos (Human Leukocyte Antigens, HLA) que se expresan en las células del donante, es uno de los factores de riesgo más importantes asociados con las complicaciones clínicas después del trasplante. La prueba cruzada es una de las pruebas de histocompatibilidad más eficaces para la detección de anticuerpos específicos contra el donante en los receptores de injertos. En los primeros métodos de la prueba cruzada, se utilizaba la citotoxicidad dependiente del complemento, que es útil para detectar dichos anticuerpos responsables del rechazo hiperagudo del injerto, pero carece de la sensibilidad adecuada. Por ello, se desarrollaron métodos de pruebas cruzadas más sensibles, entre ellas, la prueba cruzada por citometría de flujo que hoy se considera el método preferido. En este artículo se revisa la evolución de la prueba cruzada y los factores más importantes que deben tenerse en cuenta al realizarla y al interpretar los resultados de esta prueba fundamental para la supervivencia a largo plazo del injerto.

The presence of antibodies directed against human leukocyte antigens (HLA) expressed on donor cells is a significant risk factor for serious clinical complications after transplantation. The crossmatch assay is one of the most important tests available for the detection of donor-specific antibodies in potential allograft recipients. Early crossmatch methods utilized complement-dependent cytotoxicity, which is useful for detecting the donor-specific anti- HLA antibodies responsible for hyperacute allograft rejection but lacks adequate sensitivity. Consequently, more sensitive crossmatch methods have been developed, ultimately leading to the flow cytometry crossmatch as the currently preferred methodology. Herein, we review the evolution of the crossmatch assay and the most important factors to consider when performing and interpreting the results of this fundamental assay for ensuring the long-term survival of the transplanted organ.

Perspectives on high-quality interpersonal care among people obtaining abortions in Argentina.

INTRODUCTION: Little is known about how people who have abortions describe high-quality interpersonal care in Argentina. This qualitative study aimed to understand preferences and priorities in their interactions with providers. STUDY DESIGN: We conducted 24 in-depth interviews with people who obtained abortions at a comprehensive reproductive health clinic or with support from a feminist accompaniment group in Buenos Aires and Neuquén, Argentina. We iteratively coded transcripts using a thematic analysis approach based on interpersonal domains present in current quality of care frameworks. RESULTS: Participants described high-quality abortion care as feeling acompañamiento and contención from their providers - terms that imply receiving kind, caring, compassionate and emotionally supportive care throughout their abortion. They described four key elements of interpersonal interactions: attentive communication from providers and accompaniers, clear and understandable information provision, non-judgmental support, and individualized options for pain management. CONCLUSIONS: People obtaining abortions in Argentina consistently identified receiving compassionate and supportive care throughout an abortion as a key aspect of care. The findings have implications for incorporating people's perspectives in the development of care guidelines, training of providers, and monitoring and improving of services. This is particularly important as the government of Argentina prepares to expand legal access to abortion.

Little is known about how people who have abortions perceive the quality of the care they receive and what aspects of interpersonal interactions with providers matter to them. This qualitative study aimed to understand preferences of  people who had abortions at both a reproductive health clinic and with an accompaniment group in Argentina. We interviewed 24 people who obtained abortion care in Buenos Aires and Neuquén, Argentina. We asked them about their preferences for and experiences of abortion care. Then we analyzed the interviews, specifically assessing aspects of interpersonal care based on quality of care frameworks from the literature. Participants described high-quality abortion care as feeling acompañamiento and contención from their providers­terms that imply receiving kind, caring, compassionate and emotionally supportive care throughout their abortions. They described four key elements of interpersonal interactions: attentive communication from providers and accompaniers, clear and understandable information provision, non-judgmental support, and individualized options for pain management. In conclusion, people obtaining abortions in two distinct models of care in Argentina consistently identified receiving compassionate and supportive care throughout an abortion as a key aspect of care. The findings have implications for incorporating people's perspectives in the development of care guidelines, training of providers, and monitoring and improving of services. This is particularly important as the government of Argentina prepares to expand legal access to abortion.

IN VITRO GERMINATION AND VEGETATIVE PROPAGATION THROUGH BUD DEVELOPMENT OF SACHA INCHI (Plukenetia volubilis) / Germinación y propagación vegetativa in vitro a través del desarrollo de yemas de Sacha Inchi (Plukenetia volubilis)

ABSTRACT This study describes the in vitro seed germination and micropropagation of Plukenetia volubilis (sacha inchi), an oilseed crop rich in omega-3 fatty acids, with health benefits and several industrial applications. Seed germination was evaluated in different culture media (MS and 1/2 MS), seed coat presence/absence and culture temperature (18 °C and 28 °C). Micropropagation was performed using axillary bud development (ABD) on nodal segments from in vitro seedlings. KIN, BAP and 2-ip were evaluated for ABD, and the effect of modified MS in 453 mg L-1 CaCl2 and 351.62 mg L-1 MgSO4 on ABD and shoot survival was assessed to improve the process. Finally, six treatments were evaluated to optimize ABD and shoot leaf formation. Seed germination of 91.6 % was achieved in MS at 28 °C when the seed coat was removed. ABD was obtained in 45 % and 40 % with 0.4 mg L-1 KIN and 0.6 mg L-1 2-ip, respectively, with the least CAL. The modification in 453 mg L-1 CaCl2 then allowed 76 % ABD and 82 % explant survival. ABD response was optimized to 95 % and 2.45 leaves with MS medium + CaCl2 modification + 10 % coconut water + 0.4 mg L-1 KIN. The same results were obtained by replacing the latter with 0.6 mg L-1 2-ip. Rooting was achieved in MS without PGR, and acclimatization was successful. The results indicate that plant production via germination and vegetative propagation is effective for commercial purposes.

RESUMEN Este estudio describe la germinación in vitro y micropropagación de Plukenetia volubilis, un cultivo oleaginoso rico en omega-3 benéfico para la salud y con múltiples aplicaciones industriales. Se evaluó en la germinación diferentes medios de cultivo (MS y 1/2 MS), presencia-ausencia de testa y temperatura de cultivo (18 ° C y 28 ° C). La micropropagación se realizó vía yemas axilares (ABD) de plántulas in vitro. Se evaluó el efecto de KIN, BAP y 2-ip sobre ABD, seguidamente, para mejorar el proceso se evaluó el efecto de MS modificado en 453 mg L-1 CaCl2 y 351.62 mg L-1 MgSO4 sobre ABD y supervivencia del brote. Finalmente, se evaluaron seis tratamientos para optimizar ABD y la formación de hojas. Se logró una germinación 91,6 % en MS a 28 °C cuando se retiró la testa. Se obtuvo 45 % y 40 % de ABD con 0,4 mg L-1 KIN y 0,6 mg L-1 2-ip respectivamente, ambos con la menor CAL. Posteriormente, la modificación de CaCl2 permitió 76 % ABD y 82 % de supervivencia. Se optimizó ABD al 95 % con 2,45 hojas por brote con el medio: MS + modificación de CaCl2 + 10 % de agua de coco + 0.4 mg L-1 KIN, los mismos resultados se obtuvieron cambiando este último con 0,6 mg L-1 2-ip, se logró enraizamiento en MS sin PGR, y la aclimatización fue exitosa. Los resultados indican que la producción de plantas vía germinación y propagación vegetativa es efectiva con fines comerciales.

A South American Experience With Postoperative Complications Following Chest Wall Reconstruction for Neoplasms.

BACKGROUND: This study aims to report postoperative complications of chest wall reconstructions due to resections of primary or secondary neoplasms in a South American cancer institution and their association with prosthesis reconstruction. MATERIALS AND METHODS: We retrospectively reviewed clinical records of patients with primary or secondary chest wall neoplasms who underwent resection and reconstruction between November 2008 and October 2018 at the Instituto Nacional de Cancerología, Bogota, Colombia. RESULTS: A total of 77 patients were analyzed, 50 were women (64.9%), and the median age was 45.8 years. There were 22(28.6%) sternal resections and 55(71.4%) costal resections. Prosthetic material was used in 14(18.2%) sternal and 37(48.1%) costal reconstructions. There were 26(33.7%) early postoperative complications and 16(20.8%) reinterventions. Infections were observed in 12(15.6%) patients and 4(5.2%) patients developed respiratory complications. 33.3% of all the early infections were presented in patients with methyl methacrylate (MMA) reconstructions and the same percentage in those with titanium plates. There were six (7.8%) late complications and five were related to prosthetic material extrusion, all required prosthetic material removal. The mean overall survival was 77,3 months (SD = 8 months), and 1-year and 5-year overall survival was 85% and 61%, respectively. CONCLUSIONS: Infections were the more frequent postoperative complications in chest wall reconstructions. The use of either MMA or titanium plates was not related to early postoperative complications, although MMA reconstructions developed higher late complications and required prosthetic material removal.

Primary BRAF Mutant Melanoma of the Lung Treated with Immunotherapy and Pulmonary Bilobectomy: A Case Report.

BACKGROUND Primary melanoma of the lung is a rare tumor that represents 0.01% of primary lung tumors, with only 40 cases reported in the literature. Mucosal melanomas are tumors with a biological and clinical presentation that differs from that of cutaneous melanomas; therefore, the therapeutic approach differs as well. Survival rates of patients with primary melanoma of the lung are much lower than those of patients with cutaneous melanoma, and there are no diagnostic or treatment guidelines for this entity. Radical surgery is the treatment of choice when disease is resectable. The effectiveness of current established treatments for cutaneous melanoma (eg, immunotherapy and targeted therapy) is unknown in this particular subgroup. CASE REPORT We present the case of a patient who presented with cough and hemoptysis. The fiberoptic bronchoscopy revealed an endobronchial mass and the computed tomography images suggested an unresectable mass. The patient was initially diagnosed with an unresectable primary lung melanoma with a clinical stage IIIB (T4N2M0). This lesion achieved partial response after treatment with Pembrolizumab, which allowed radical surgery to be performed, achieving complete resection with negative margins and adequate postoperative evolution. Despite the delays in our health care system, she is currently alive and disease-free more than 24 months after diagnosis. CONCLUSIONS Immunotherapy can reduce the size of mucosal melanoma to the point that it can be resectable and this therapeutic approach increases the survival opportunities of these patients.

"It's not a seven-headed beast": abortion experience among women that received support from helplines for medication abortion in restrictive settings.

There are a growing number of abortion helplines where counselors provide person-centered medication abortion services in legally restrictive settings. Few researchers have explored the perceptions and experiences of the people who obtain support from these helplines. Between April and August 2017, we conducted 30 interviews with women who had a medication abortion with support from helpline counselors in Poland, Brazil, or Nigeria. Before seeking care with the helpline, women often heard negative stories about abortion and faced enacted stigma from the formal healthcare sector, or chose not to seek services from their doctors due to fear of stigmatizing treatment. Conversely, during their care with the helpline counselors, women received clear information in a timely manner, and were treated with kindness, compassion, respect, and without judgment. Many women gained knowledge and understanding of medication abortion, and some gained a sense of community among those who experienced abortion. Helpline models can provide high-quality, person-centered abortion care to people seeking abortions in legally restrictive contexts. Evidence from these service-delivery models could help improve service within the formal healthcare systems and expand access to high-quality, safe abortion by redefining what it means to provide care.

POLYPHENOLS DISTRIBUTION AND RESERVE SUBSTANCES ANALYSIS IN CACAO SOMATIC EMBRYOGENESIS / Análisis de distribución de polifenoles y sustancias de reserva en embriogénesis somática de cacao

In order to understand the causes of lack of regeneration in cacao somatic embryos, two cacao varieties with different responses to regeneration potential were described based on their capacity to store different compounds. It is well known that seed reserves play a central role in the regenerative capability of somatic embryos; thus, we followed histochemical changes and reserve fluctuations of proteins, polysaccharides and polyphenols during somatic embryogenesis (SE) in the two cacao varieties. The study showed that, in somatic embryos of the regenerating variety, polyphenols were localized mainly in the periphery of the embryo (epidermal cells) and proteins were the main storage substance in the embryo expression medium, while the non-regenerating variety had a high presence of polysaccharides with random distribution of polyphenols at the end of the embryo induction step.

Dos variedades de cacao con diferentes respuestas a la regeneración fueron descritas en función de su capacidad para almacenar diferentes compuestos, con el fin de aproximarse al entendimiento de las causas de la falta de regeneración en embriones somáticos de cacao. Es bien sabido que las reservas de semillas desempeñan un papel central en la capacidad de regeneración de embriones somáticos; por tanto, se realizó un seguimiento de cambios histoquímicos y fluctuaciones de reserva de proteínas, polisacáridos y polifenoles durante la embriogénesis somática (SE) en dos variedades de cacao. El estudio mostró que, en los embriones somáticos de la variedad regenerante, los polifenoles se localizaron principalmente en la periferia del embrión (células de la epidermis) y las proteínas fueron el componente principal de almacenamiento en el medio de expresión de embriones, mientras que la variedad no regenerante tenía una alta presencia de polisacáridos y una distribución aleatoria de los polifenoles en el final de la etapa de inducción de embriones.

The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.

BACKGROUND: The Argentinean program was initiated more than a decade ago as the first experience of systematic translational research focused on NCL in Latin America. The aim was to overcome misdiagnoses and underdiagnoses in the region. SUBJECTS: 216 NCL suspected individuals from 8 different countries and their direct family members. METHODS: Clinical assessment, enzyme testing, electron microscopy, and DNA screening. RESULTS AND DISCUSSION: 1) The study confirmed NCL disease in 122 subjects. Phenotypic studies comprised epileptic seizures and movement disorders, ophthalmology, neurophysiology, image analysis, rating scales, enzyme testing, and electron microscopy, carried out under a consensus algorithm; 2) DNA screening and validation of mutations in genes PPT1 (CLN1), TPP1 (CLN2), CLN3, CLN5, CLN6, MFSD8 (CLN7), and CLN8: characterization of variant types, novel/known mutations and polymorphisms; 3) Progress of the epidemiological picture in Latin America; and 4) NCL-like pathology studies in progress. The Translational Research Program was highly efficient in addressing the misdiagnosis/underdiagnosis in the NCL disorders. The study of "orphan diseases" in a public administrated hospital should be adopted by the health systems, as it positively impacts upon the family's quality of life, the collection of epidemiological data, and triggers research advances. This article is part of a Special Issue entitled: "Current Research on the Neuronal Ceroid Lipofuscinoses (Batten Disease)".

Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.

Tripeptidyl-peptidase 1 (TPP1) null or residual activity occurs in neuronal ceroid lipofuscinosis (NCL) with underlying TPP1/CLN2 mutations. A survey of 25 South American CLN2 affected individuals enabled the differentiation of two phenotypes: classical late-infantile and variant juvenile, each in approximately 50% of patients, with residual TPP1 activity occurring in approximately 32%. Each individual was assigned to one of three subgroups: (I) n=11, null TPP1 activity in leukocytes; (II) n=8, residual TPP1 activity of 0.60-15.85 nmol/h/mg (nr 110-476); (III) n=6, activity not measured in leukocytes. Curvilinear bodies (CB) appeared in almost all studied CLN2 subjects; the only exceptions occurred in cases of subgroup II: two individuals had combined CBs/fingerprints (FPs), and one case had pure FPs. There were 15 mutations (4 first published in this paper, 3 previously observed in South America by our group, and 8 previously observed by others). In subgroup I, mutations were either missense or nonsense; in subgroups II and III, mutations prevailed at the non-conserved intronic site, c.887-10A>G (intron 7), and to a lesser extent at c.89+5G>C (intron 2), in heterozygous combinations. Grouping phenotypically and genetically known individuals on the basis of TPP1 activity supported the concept that residual enzyme activity underlies a protracted disease course. The prevalence of intronic mutations at non-conserved sites in subgroup II individuals indicates that some alternative splicing might allow some residual TPP1 activity.

X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patients.

X-linked adrenoleukodystrophy (X-ALD) is an inherited metabolic disease associated with mutations in the ABCD1 gene that encodes an ATP-binding cassette transporter protein, ALDP. The disease is characterized by increased concentrations of very long-chain fatty acids (VLCFAs) in plasma and in adrenal, testicular and nervous tissues, due to a defect in peroxisomal VLCFA ß-oxidation. In the present study, we analyzed 10 male patients and 17 female carriers from 10 unrelated pedigrees with X-ALD from Argentina. By sequencing the ABCD1 we detected 9 different mutations, 8 of which were novel. These new mutations were verified by a combination of methods that included both functional (western blot and peroxisomal VLCFA ß-oxidation) and bioinformatics analysis. The spectrum of novel mutations consists of 3 frameshift (p.Ser284fs*16, p.Glu380Argfs*21 and p.Thr254Argfs*82); a deletion (p.Ser572_Asp575del); a splicing mutation (c.1081+5G>C) and 3 missense mutations (p.Ala341Asp, p.His420Pro and p.Tyr547Cys). In one patient 2 changes were found: a known missense (p.His669Arg) and an unpublished amino acid substitution (p.Ala19Ser). In vitro studies suggest that p.Ala19Ser is a polymorphism. Moreover, we identified two novel intronic polymorphisms and two amino acid polymorphisms. In conclusion, this study extends the spectrum of mutation in X-ALD and facilitates the identification of heterozygous females.

Prevalencia y factores asociados al consumo de sustancias psicoactivas legales farmacológicas en médicos residentes de una universidad de Bogotá / Prevalence and factors associated with the use of legal pharmacologic psychoactive substances in resident doctors of a university of Bogota

Objetivo: Identificar la prevalencia y los factores asociados al consumo de sustancias controladas en médicos residentes de una universidad de Bogotá. Año 2008. Metodología: Se realizó un estudio observacional de corte transversal, con una muestra de 157 residentes estratificada por especialidades médico quirúrgicas de programas de posgrado. Como criterios de inclusión se tomaron; ser médico residente matriculado actualmente en los programas académicos y ser mayor de 18 años. Se utilizaron como variables independientes la edad, el género, el estado civil, la relación familiar, el tipo de residencia, el ambiente laboral, el número de turnos por semana y como variables dependientes tipo de medicamento y su frecuencia de consumo. Resultados: En relación con el consumo de sustancias controladas se encontró que el 12.4% (N=39) consume o ha consumido alguna vez sustancias psicoactivas. El 10.4% (N=33) ha consumido alguna vez una sustancia controlada y 7.6% (N=25) las ha consumido durante la especialidad. Entre los factores asociados dados por el análisis bivariado se encontró asociación significativa entre el consumo de sustancias psicoactivas legales con el número de turnos por semana y un ambiente laboral en el que predomino el maltrato dado por turnos de castigo, insultos, falta de respeto y amenazas, (valor p <0,05), con el análisis multivariado no se encontró asociación. Conclusiones: Diferentes factores de riesgo se encuentran asociados al consumo de sustancias psicoactivas legales, en especial el ambiente laboral y el número de turnos por semana. La prevalencia de consumo de sustancias psicoactivas legales farmacológicas fue considerada como baja.

Objective: Identify the prevalence and factors associated with controlled substances among medical residents from a university in Bogota. Year 2008. Methodology: A cross-sectional observational study was performed with a sample of 157 residents stratified by medical – surgical specialties from postgraduate programs. Inclusion criteria were taken: being a resident doctor currently enrolled in academic programs and to be over 18 years. It was used independent variables as age, gender, marital status, family relationship, type of residence, work environment, number of rotations per week and dependent variables as frequency of use and type of drug consumed. Results: Regarding the use controlled substance, it was found that 12.4% (N = 39) consume or they’ve ever used psychoactive substances. 10.4% (N = 33) has ever used a controlled substance and 7.6% (N = 25) has consumed during the specialization. Among the associated factors which were given by means of the bivariant analysis, it was found a significant association among the use of legal psychoactive substances with the number of rotations per week and a work environment in which prevails the given mistreatment by punishment rotation, insults, disrespect and threats (p <0, 05), it was not found association by means of the multivariant analysis. Conclusions: Different risk factors are associated with controlled substance use, especially the work environment and the number of rotations per week. The prevalence of controlled substances was considered low.

Componentes antioxidantes del chincho (Tagetes Elliptica Sm): vitamina “C” y flavonoides / Antioxidant components of Chincho (Tagetes elliptica Sm): vitamin C and flavonoids

El chincho (Tagetes elliptica Sm) es una hierba aromática de la sierra del Perú, normalmente utilizada como aditivo culinario, aparte de esta resaltante propiedad, en algunos casos es utilizada para fines terapéuticos, lo que aparentemente evidencia que posee otras propiedades. Con el fin ampliar la información sobre las propiedades funcionales de esta hortaliza, se planteó investigar los componentes antioxidantes: vitamina C y flavonoides, para ello se plantearon los siguientes objetivos: determinar el contenido de vitamina C (por espectrofotometría),flavonoides 3-hidroxilo en extractos acuoso y etenólico (por espectrofotometría), y el contenido de catequinas en las hojas del chincho (por HPLC). Los resultados fueron: vitamina C igual a 14,49 mg de ácido ascórbico/100 g de muestra húmeda; flavonoides 3-hidroxilo igual 39,72 mg de ácido gálico/g de muestra y flavonoides en términos de catequinas igual a 396,665 microgramo/ml de extracto. En base al estudio, se llegó a la conclusión de que el chincho, a parte de su buena cualidad culinaria, presenta muy bajas condiciones para ser considerada como una hortaliza con propiedades nutricionales o de capacidad antioxidante.

The chincho (Tagetes elliptica Sm) is anaromatic grass of the mountain range of Peru, normally is used as culinary additive, apart from this curious property, in some cases it is used for therapeutic aims , which apparently demonstrates it possesses other properties. With the aim to extend the information on the functional properties of this vegetable, it was proposed to investigate the antioxidant components: vitamin C and flavonoids, therefore it was proposed the following aims: determine the content of vitamin C (forespectrofotometría), flavonoids 3-hidroxilo in aqueous extracts and etenólico (for espectrofotometría), and the content of catequinas in the leaves of chincho (for HPLC). The results were: Vitamin C is equal to 14,49 mg of ascorbic acid /100 g of humid sample; Flavonoids 3-hidroxilo is equal 39,72 mg of galic acid/g of sample and Flavonoids in terms of catequinas is equal to 396,665 microgram/ml of extract. In basis to the study, it was reached the conclusion that the Chincho, apart of its good culinary quality, it presents very low conditions to be considered like an antioxidant capacity or a vegetable with nutritional properties.