Impaired Reverse Cholesterol Transport is Associated with Changes in Fatty Acid Profile in Children and Adolescents with Abdominal Obesity.

BACKGROUND: Abdominal obesity is an important cardiovascular disease risk factor. Plasma fatty acids display a complex network of both pro and antiatherogenic effects. High density lipoproteins (HDL) carry out the antiatherogenic pathway called reverse cholesterol transport (RCT), which involves cellular cholesterol efflux (CCE), and lecithin:cholesterol acyltransferase (LCAT) and cholesteryl ester transfer protein (CETP) activities. OBJECTIVES: Our aim was to characterize RCT and its relation to fatty acids present in plasma in pediatric abdominal obesity. METHODS: Seventeen children and adolescents with abdominal obesity and 17 healthy controls were studied. Anthropometric parameters were registered. Glucose, insulin, lipid levels, CCE employing THP-1 cells, LCAT and CETP activities, plus fatty acids in apo B-depleted plasma were measured. RESULTS: The obese group showed a more atherogenic lipid profile, plus lower CCE (Mean±Standard Deviation) (6 ± 2 vs. 7 ± 2%; P < 0.05) and LCAT activity (11 ± 3 vs. 15 ±5 umol/dL.h; P < 0.05). With respect to fatty acids, the obese group showed higher myristic (1.1 ± 0.3 vs. 0.7 ± 0.3; P < 0.01) and palmitic acids (21.5 ± 2.8 vs. 19.6 ± 1.9; P < 0.05) in addition to lower linoleic acid (26.4 ± 3.3 vs. 29.9 ± 2.6; P < 0.01). Arachidonic acid correlated with CCE (r = 0.37; P < 0.05), myristic acid with LCAT (r = -0.37; P < 0.05), palmitioleic acid with CCE (r = -0.35; P < 0.05), linoleic acid with CCE (r = 0.37; P < 0.05), lauric acid with LCAT (r = 0.49; P < 0.05), myristic acid with LCAT (r = -0.37; P < 0.05) ecoisatrienoic acid with CCE (r = 0.40; P < 0.05) and lignoseric acid with LCAT (r = -0.5; P < 0.01). CONCLUSIONS: Children and adolescents with abdominal obesity presented impaired RCT, which was associated with modifications in proinflammatory fatty acids, such as palmitoleic and myristic, thus contributing to increased cardiovascular disease risk.

Metabolic alterations, HFE gene mutations and atherogenic lipoprotein modifications in patients with primary iron overload.

Iron overload (IO) has been associated with glucose metabolism alterations and increased risk of cardiovascular disease (CVD). Primary IO is associated with mutations in the HFE gene. To which extent HFE gene mutations and metabolic alterations contribute to the presence of atherogenic lipoprotein modifications in primary IO remains undetermined. The present study aimed to assess small, dense low-density lipoprotein (LDL) levels, chemical composition of LDL and high-density lipoprotein (HDL) particles, and HDL functionality in IO patients. Eighteen male patients with primary IO and 16 sex- and age-matched controls were recruited. HFE mutations (C282Y, H63D and S65C), measures of insulin sensitivity and secretion (calculated from the oral glucose tolerance test), chemical composition and distribution profile of LDL and HDL subfractions (isolated by gradient density ultracentrifugation) and HDL functionality (as cholesterol efflux and antioxidative activity) were studied. IO patients compared with controls exhibited insulin resistance (HOMA-IR (homoeostasis model assessment-estimated insulin resistance): +93%, P< 0.001). Metabolic profiles differed across HFE genotypes. C282Y homozygotes (n=7) presented a reduced ß-cell function and insulin secretion compared with non-C282Y patients (n=11) (-58% and -73%, respectively, P< 0.05). In addition, C282Y homozygotes featured a predominance of large, buoyant LDL particles (C282Y: 43±5; non-C282Y: 25±8; controls: 32±7%; P< 0.001), whereas non-C282Y patients presented higher amounts of small, dense LDL (C282Y: 23±5; non-C282Y: 39±10; controls: 26±4%; P< 0.01). HDL particles were altered in C282Y homozygotes. However, HDL functionality was conserved. In conclusion, metabolic alterations and HFE gene mutations are involved in the presence of atherogenic lipoprotein modifications in primary IO. To what extent such alterations could account for an increase in CVD risk remains to be determined.

Treatment patterns and outcomes in light chain amyloidosis: An institutional registry of amyloidosis report in Argentina.

Light chain (AL) amyloidosis is a form of systemic amyloidosis, causing organ dysfunction, mainly affecting the heart and kidney. Patient-tailored and risk-adapted decision making is critical in AL amyloidosis management. There is limited real-world evidence data from Argentina and Latin America regarding the treatment approaches for AL amyloidosis. This retrospective cohort study aimed to describe the treatment patterns and outcomes in adult patients (>18 years) diagnosed with AL amyloidosis at the Hospital Italiano in Buenos Aires, Argentina, using a 10-yearfollow-up data (June 1, 2010 to May 31, 2019) from the institutional registry of amyloidosis (IRA). The study population had a mean age of 63 years and 54.4% weremale. Heart and kidney were the most frequently affected organs. Of the 90 eligible patients included in the study, 70underwent treatment. Bortezomib-based regimen was the preferred first-line treatment (75.7% patients). Overall,54.4% of the patients presented a deep response (complete or very good partial response). Median overall survival (OS) was 5years, the 1-year OS and progression free survival rates were 80% (95% confidence interval [CI]: 68-87) and 80% (95%CI 68-87)), respectively. This study provides vital real-world evidence for the long-term treatment patterns and survival in a large cohort of AL amyloidosis patients in Argentina.

Effect of Tocilizumab on LDL and HDL Characteristics in Patients with Rheumatoid Arthritis. An Observational Study.

BACKGROUND: In patients with rheumatoid arthritis (RA), qualitative alterations of low and high-density lipoproteins (LDL and HDL, respectively) might partially explain their increased cardiovascular risk. Tocilizumab has been associated with an increase in lipids, including triglyceride (TG) and cholesterol levels. The aim of this study is to evaluate the effect of tocilizumab on certain LDL and HDL characteristics (oxidized LDL levels, HDL-associated enzymes, chemical composition of both total HDL and HDL3c subpopulation, and their capacity to promote cellular cholesterol efflux) at baseline and 3 months after the start of treatment in patients with RA. METHODS: Twenty-eight RA patients (ACR/EULAR 2010 criteria) with indication of treatment with tocilizumab were included in the present study. Clinical assessment [Health assessment questionnaire (HAQ)], disease activity score 28 (DAS28), high-sensitivity C reactive protein (hsCRP) concentration, lipid profile, and lipoprotein (a) [Lp(a)] levels were evaluated in all patients at baseline and after 3 months of treatment with tocilizumab. Lipoprotein characteristics were evaluated through the levels of oxidized LDL (OxLDL), the activity of paraoxonase (PON) 1, the composition of total HDL and small, dense HDL3c subpopulation, and their ability to promote cellular cholesterol efflux. RESULTS: After 3 months of treatment with tocilizumab, HAQ (- 23%, p < 0.05), DAS28 (- 49%, p < 0.001), and hsCRP (- 94%, p < 0.01) levels decreased significantly. Total cholesterol (TC), LDL-C, non-HDL-C, and apo B levels showed a significant increase after treatment (TC: + 7.0%, p < 0.01; LDL-C: + 10%, p < 0.01; non-HDL-C: + 9.9%, p < 0.01; and apo B: + 9.6%, p < 0.05). Decreases in Lp(a) and OxLDL levels were also observed after treatment [Lp(a): - 50%, p < 0.01; and oxLDL: - 5.4%, p < 0.05]. The latter was in accordance with the increment detected in PON activity. No changes were observed in HDL capacity to promote cholesterol efflux (p > 0.05) in the whole group. CONCLUSIONS: Treatment with tocilizumab reduced hsCRP levels and displayed positive effects on certain lipoprotein-related parameters, such as a potent decrease inLp(a) and a reduction in OxLDL levels. Moreover, HDL capacity to promote cellular cholesterol efflux was maintained after 3 months of treatment.

Validation of CSF free light chain in diagnosis and prognosis of multiple sclerosis and clinically isolated syndrome: prospective cohort study in Buenos Aires.

BACKGROUND: The objective was to evaluate the precision of kappa and lambda free light chains (KFLC and LFLC) in CSF for the diagnosis of multiple sclerosis (MS) and prognosis of clinically isolated syndrome (CIS). METHODS: CSF and serum samples from CIS, MS and other neurological non-MS disease were collected between 2015 and 2017. FLC concentrations were measured using immunoassay Freelite™. Results were correlated with the patients' diagnoses and ROC curve analysis was used to determine accuracy. In CIS patients, analysis of FLC were compared in CIS converters vs. non-converter during follow-up. RESULTS: In the MS group (n = 41), the optimal cut-off for KFLC determined was 7 mg/L, with a diagnostic sensitivity and specificity of 95% and 97%, respectively. The optimal cut-off for LFLC was 0.7 mg/L, with a diagnostic sensitivity and specificity of 71% and 81%, respectively. 36 CIS patients were included; mean follow-up time was 28 ± 9 months, and 22 (61.1%) patients converted to MS. The median concentration of CSF K and LFLCs at CIS diagnosis was slightly higher in CIS-converters compared to non-converters, but this did not reach statistical significance (KFLC: median 7 ± 5.3 mg/L vs. 5 ± 2.3 mg/L, p = 0.11; LFLC 0.7 ± 0.33 mg/L vs. 0.5 ± 0.23 mg/L p = 0.16). A strong correlation was observed between the concentration of K and L FLCs at diagnosis and the change in PBVC during follow-up (r = 0.72 and r = 0.65, respectively). CONCLUSION: KFLCs have a high sensitivity and specificity for the diagnosis of MS. FLC concentrations at CIS diagnosis were not significantly higher in CIS-converters.

Oxidative stress, HDL functionality and effects of intravenous iron administration in women with iron deficiency anemia.

BACKGROUND AND AIMS: Iron deficiency anemia (IDA) affects around 20-30% of adults worldwide. An association between IDA and cardiovascular disease (CVD) has been reported. Oxidative stress, inflammation and low concentration of high-density lipoproteins (HDL) were implicated on endothelial dysfunction and CVD in IDA. We studied the effects of iron deficiency and of an intravenous iron administration on oxidative stress and HDL characteristics in IDA women. METHODS: Two studies in IDA women are presented: a case-control study, including 18 patients and 18 age-matched healthy women, and a follow-up study 72hr after the administration of intravenous iron (n = 16). Lipids, malondialdehyde, cholesteryl ester transfer protein (CETP), paraoxonase-1 (PON-1) and HDL chemical composition and functionality (cholesterol efflux and antioxidative activity) were measured. Cell cholesterol efflux from iron-deficient macrophages to a reference HDL was also evaluated. RESULTS: IDA patients showed higher triglycerides and CETP activity and lower HDL-C than controls (all p < 0.001). HDL particles from IDA patients showed higher triglyceride content (+30%,p < 0.05) and lower antioxidative capacity (-23%,p < 0.05). Although HDL-mediated cholesterol efflux was similar between the patients and controls, iron deficiency provoked a significant reduction in macrophage cholesterol efflux (-25%,p < 0.05). Arylesterase activity of PON-1 was significantly lower in IDA patients than controls (-16%,p < 0.05). The intravenous administration of iron was associated with a decrease in malondialdehyde levels and an increase in arylesterase activity of PON-1 (-22% and +18%, respectively, p < 0.05). CONCLUSION: IDA is associated with oxidative stress and functionally deficient HDL particles. It remains to be determined if such alterations suffice to impair endothelial function in IDA.

[Not Available]. / Insatisfacción corporal y conductas de control del peso en chicas adolescentes con sobrepeso: papel mediador de la ansiedad y la depresión.

Introducción: los problemas relacionados con el peso constituyen un problema importante de salud pública debido a su alta prevalencia y a las adversas consecuencias que tienen para la salud.Objetivo: el objetivo principal de este estudio fue analizar si la depresión y la ansiedad tienen un papel mediador en la relación entre la insatisfacción corporal y las conductas de control del peso en chicas adolescentes con sobrepeso.Material y métodos: en el estudio participaron 140 mujeres de 16 a 20 años con sobrepeso. Las participantes tuvieron que cumplimentar la escala de insatisfacción corporal del EDI-2, las escalas de ansiedad y depresión del GHQ-28 y una adaptación de las escalas del EAT survey para evaluar las conductas de control del peso. Para los análisis estadísticos se utilizaron métodos de diferencias de medias, correlaciones y de mediación secuencial.Resultados: las adolescentes con sobrepeso y alta insatisfacción corporal presentaban más sintomatología ansiosa y depresiva, así como mayor cantidad de conductas de control del peso. Los resultados del análisis de mediación secuencial evidencian que el efecto de la insatisfacción corporal en las conductas de control del peso está parcialmente mediado por las variables depresión y ansiedad. Mientras que la sintomatología ansiosa presenta efectos directos e indirectos sobre las conductas de control de peso, la sintomatología depresiva solamente presenta un efecto indirecto.Conclusiones:los resultados del estudio destacan el rol mediador de la sintomatología depresiva y, especialmente, de la ansiedad en el desarrollo de conductas no saludables de control del peso.

Alpha-1 Antitrypsin Deficiency in COPD Patients: A Cross-Sectional Study.

INTRODUCTION: Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder associated with early onset chronic obstructive pulmonary disease (COPD) and liver disease. It is also a highly under-diagnosed condition. As early diagnosis could prompt specific interventions such as smoking cessation, testing of family members, genetic counselling and use of replacement therapy, screening programs are needed to identify affected patients. OBJECTIVE: To estimate the prevalence of severe AATD in COPD patients by routine dried blood spot testing and subsequent genotyping in patients with alpha-1 antitrypsin (AAT) levels below an established threshold. MATERIALS AND METHODS: Cross-sectional study of adult COPD patients attending the Hospital Dr. Antonio Cetrángolo (Buenos Aires, Argentina) between 2009 and 2012. The study consisted of capillary blood collection via finger stick to determine AAT levels, clinical evaluation and lung function tests. Genotype was determined in AAT-deficient patients. RESULTS: A total of 1,002 patients were evaluated, of whom 785 (78.34%) had normal AAT levels, while low AAT levels were found in 217 (21.66%). Subsequent genotyping of the latter sub-group found: 15 (1.5%, 95% CI 0.75-2.25) patients with a genotype associated with severe AATD, of whom 12 were ZZ (1.2%, 95% CI 0.52-1.87) and 3 SZ (0.3%, 95% CI 0-0.64). The remaining 202 patients were classified as: 29 Z heterozygotes (2.89%, 95% CI 1.86-3.93), 25 S heterozygotes (2.5%, 95% CI 1.53-3.46) and 4 SS (0.4%, 95% CI 0.01-0.79). A definitive diagnosis could not be reached in 144 patients (14.37%, 95% CI 12.2-16.54). CONCLUSION: The strategy using an initial serum AAT level obtained by dried blood spot testing and subsequent genotyping was a satisfactory initial approach to a screening program for severe AAT, as a definitive diagnosis was achieved in 87% of patients. However, results were not obtained for logistical reasons in the remaining 13%. This major obstacle may be overcome by the use of dried blood spot phenotyping techniques. We believe this approach for detecting AATD in COPD patients, in compliance with national and international guidelines, is supported by our results.

Anti-fat stereotypes and prejudices among primary school children and teachers in Spain / Estereotipos hacia el sobrepeso/obesidad y ajuste escolar en niños de educación primaria en España

The aim of the present study was to investigate stereotypes and prejudices among children and schoolteachers toward overweight/obesity. Two thousand fifty-five 8- to 12-year-olds and their teachers took part in the study. Children’s body mass index, children’s perceptions of overweight/obesity and teachers’ assessment of school adjustment were measured. Students, particularly younger children, ascribed less positive attributes and more negative attributes to fat figures. Furthermore, in a task to assess their behavioral intentions to participate in social and recreational activities according to target’s body size, the fat figure was the least frequently chosen. Teachers reported lower overall school adjustment for overweight/obese students. Both children and teachers showed anti-fat bias. Future research should examine cost-effective interventions to prevent anti-fat bias and to promote healthy school climate

El objetivo del presente estudio fue investigar los estereotipos y prejuicios de los niños y maestros hacia el sobrepeso/obesidad. Dos mil cincuenta y cinco niños de 8 a 12 años y sus profesores participaron en el estudio. Se midió el Índice de Masa Corporal y la percepción hacia el sobrepeso/obesidad en los niños, y la evaluación de ajuste escolar por parte de los profesores. Los escolares, particularmente los más jóvenes, eligieron menos atributos positivos y más negativos para las figuras gruesas. Además, en una tarea para evaluar su disposición a participar en actividades sociales y recreativas en función del tamaño corporal, la figura gruesa fue la elegida con menos frecuencia. Los profesores puntuaron con un menor ajuste escolar a los estudiantes con sobrepeso/obesidad. Futuras investigaciones deberían centrarse en intervenciones de prevención eficaces y en promover un clima escolar saludable

Un caso de amiloidosis AL / A case report of AL amyloidosis

Antecedentes: la amiloidosis es una enfermedad sistémica que resulta del depósito de proteínas mal plegadas; en la amiloidosis de cadena ligera de la inmunoglobulina (AL), las fibrillas están compuestas de fragmentos de cadenas ligeras monoclonales. En la Argentina, la densidad de incidencia de amiloidosis AL es 4,54 cada millón de personas/año. Caso: paciente femenina de 71 años que consulta por dolor neural localizado en miembro superior izquierdo, asociado a edemas en ambos miembros inferiores y disnea de esfuerzo, pérdida de peso, constipación y macroglosia. Al examen físico presenta tensión arterial de 100/60 mm Hg; está afebril, saturando 98% de aire ambiente; peso de 46 kg y un índice de masa corporal de 18,9. Se constatan cadenas livianas libres Kappa: 5,8 mg/L, Lambda: 430 mg/L y con relación K/L: 0,13 mg/L y un ProBNP de 1686 pg/mL. La biopsia de grasa abdominal informó depósitos de amiloide, tinción de rojo Congo positivo. Resonancia magnética (RM) de corazón con contraste (gadolinio), compatible con amiloidosis cardíaca. La tomografía computarizada (TC) de tórax demostró un área de consolidación en lóbulo superior del pulmón derecho, rojo Congo positivo focal. Ante el diagnóstico de amiloidosis AL se realiza tratamiento con CYBORD. Se consolidó el tratamiento con un trasplante autólogo de médula ósea. Discusión: la afectación cardíaca es la principal causa de morbilidad y mortalidad dentro de la amiloidosis. (AU)

Background: amyloidosis is a systemic disease resulting from the deposition of misfolding proteins, in immunoglobulin light chain amyloidosis (AL) fibrils are composed of fragments of monoclonal light chains. In Argentina the incidence density of AL amyloidosis is 4.54 per million people year. Case: a 71-year-old female patient who consults for neural pain located in the left upper limb, associated with edemas in both lower limbs and exertional dyspnea, weight loss, constipation and macroglossia. On physical examination she had blood pressure of 100/60 mmHg, afebrile, saturating 98% of ambient air, weight of 46 kg and body mass index of 18.9. The peripheral blood laboratory has Kappa free light chains: 5.8 mg/L, Lambda: 430 mg/L with K L ratio: 0.13 mg/L and a ProBNP of 1686 pg/mL. Abdominal fat biopsy reports positive Congo red staining. Cardiac magnetic resonance with contrast (gadolinium) has been performed and result compatible with cardiac amyloidosis. Chest CT showed an area of consolidation in the upper lobe of the right lung; positive congo red. With the diagnosis of AL amyloidosis she was treated with CYBORD. Autologous stem cell transplantation was performed. Discussion: cardiac involvement is the main cause of morbidity and mortality by amyloidosis. (AU)

Outcome of cognitive-behavioral therapy for relatives of people with severe mental disorders / Resultados de la terapia cognitivo-conductual para familiares de personas con trastorno mental severo

BACKGROUND: Over the past 20 years, research shows that families of people affected by severe mental illness (schizophrenia, bipolar disorder, and addiction) may suffer emotional distress and lack of self-esteem. AIMS: In this study, long-term effectiveness of a cognitive-behavioral treatment designed for relatives of people with severe mental illness was evaluated. METHOD: A total of 30 relatives living with a person affected by a severe mental disorder received 10 sessions of tailored cognitive-behavioral therapy. RESULTS: The study shows that the treatment was effective for the reduction of depression-anxiety symptoms, as well as for negative emotions and psychological distress. CONCLUSIONS: This psychological support program has shown to be effective as a treatment for the relatives of people with serious mental health problems both in the posttreatment and in the 12-month follow-up

ANTECEDENTES: en los últimos 20 años, la investigación muestra que los familiares de las personas afectadas por una enfermedad mental grave (esquizofrenia, trastorno bipolar y adicciones) pueden sufrir malestar emocional y falta de autoestima. OBJETIVOS: en este estudio se evalúa la eficacia a largo plazo de un tratamiento cognitivo-conductual diseñado para familiares de personas con enfermedad mental grave. MÉTODO: un total de 30 familiares que viven con una persona afectada por un trastorno mental grave recibió 10 sesiones individuales de terapia cognitivo-conductual. RESULTADOS:el tratamiento fue eficaz para la reducción de los síntomas ansioso-depresivos, así como para la disminución de las emociones negativas. CONCLUSIONES: este programa de apoyo psicológico ha demostrado ser eficaz como tratamiento para los familiares de las personas con graves problemas de salud mental, tanto en el postratamiento como en el seguimiento de los 12 meses

Insatisfacción corporal y conductas de control del peso en chicas adolescentes con sobrepeso: papel mediador de la ansiedad y la depresión / Body dissatisfaction and weight control behaviors among overweight adolescent girls: mediating role of anxiety and depression

Introducción: los problemas relacionados con el peso constituyen un problema importante de salud pública debido a su alta prevalencia y a las adversas consecuencias que tienen para la salud. Objetivo: el objetivo principal de este estudio fue analizar si la depresión y la ansiedad tienen un papel mediador en la relación entre la insatisfacción corporal y las conductas de control del peso en chicas adolescentes con sobrepeso. Material y métodos: en el estudio participaron 140 mujeres de 16 a 20 años con sobrepeso. Las participantes tuvieron que cumplimentar la escala de insatisfacción corporal del EDI-2, las escalas de ansiedad y depresión del GHQ-28 y una adaptación de las escalas del EAT survey para evaluar las conductas de control del peso. Para los análisis estadísticos se utilizaron métodos de diferencias de medias, correlaciones y de mediación secuencial. Resultados: las adolescentes con sobrepeso y alta insatisfacción corporal presentaban más sintomatología ansiosa y depresiva, así como mayor cantidad de conductas de control del peso. Los resultados del análisis de mediación secuencial evidencian que el efecto de la insatisfacción corporal en las conductas de control del peso está parcialmente mediado por las variables depresión y ansiedad. Mientras que la sintomatología ansiosa presenta efectos directos e indirectos sobre las conductas de control de peso, la sintomatología depresiva solamente presenta un efecto indirecto. Conclusiones: los resultados del estudio destacan el rol mediador de la sintomatología depresiva y, especialmente, de la ansiedad en el desarrollo de conductas no saludables de control del peso (AU)

Introduction: The weight-related problems are a major public health problem due to its high prevalence rate and negative health consequences. Objective: The main target of this study was to find out if anxiety and depression play a mediating role between body dissatisfaction and unhealthy weight control behaviors among overweight adolescent girls. Material and methods: Participants in this study were 140 overweight adolescent girls aged 16 to 20. The questionnaires used in the study were the EDI-2 subscale for body dissatisfaction, the GHQ-28 scales for anxiety and depression symptoms and an adaptation of the EAT survey scales to assess the weight control behaviors. Mean differences, correlations and sequential mediation were utilized for data analysis. Results: Overweight adolescent girls with high body dissatisfaction showed more anxiety and depression symptoms, as well as more weight control behaviors. According to the sequential mediation analysis, the infl uence of body dissatisfaction in the weight control behaviors is partially mediated by psychopathological variables (anxiety and depression). Anxiety symptoms have a direct and indirect influence on the weight control behaviors, but depressive symptoms have only an indirect influence. Conclusions: The results of this study highlight the mediating roles of depressive and, mainly anxiety symptoms in overweight adolescent girls for the development of unhealthy weight control behaviors (AU)

Déficit de alfa 1 antitripsina en pacientes con EPOC: estudio de corte transversal / Alpha-1 Antitrypsin Deficiency in COPD Patients: A Cross-Sectional Study

Introducción: El déficit de alfa 1 antitripsina (DAAT) es un desorden genético asociado a enfermedad pulmonar obstructiva crónica (EPOC) en edad temprana y enfermedad hepática. A su vez, es una condición altamente subdiagnosticada, lo que haría necesario el desarrollo de programas de cribado para identificar a pacientes afectados, ya que el diagnóstico podría promover intervenciones específicas como cese tabáquico, estudio de familiares, consejo genético y uso de terapia de reemplazo. Objetivo: Estimar la prevalencia de DAAT grave en pacientes con EPOC mediante la cuantificación de la proteína en sangre seca de forma rutinaria y posterior genotipado de aquellos pacientes con concentraciones por debajo de un umbral establecido. Materiales y métodos: Estudio de corte transversal de pacientes adultos con diagnóstico de EPOC que consultaron al Hospital Dr. Antonio Cetrángolo (Buenos Aires, Argentina) entre 2009 y 2012. La participación en el estudio consistió en la toma de una muestra de sangre por punción capilar del pulpejo del dedo para la determinación de las concentraciones de alfa 1 antitripsina (AAT), evaluación clínica y evaluación de función pulmonar. En los pacientes con déficit, se determinó adicionalmente el genotipo. Resultados: Un total de 1.002 pacientes fueron evaluados, de los cuales 785 (78,34%) tuvieron un valor normal de AAT, mientras que en 217 (21,66%) se detectó un déficit de concentración de AAT; a este último subgrupo se les realizó genotipado posterior, que arrojó: 15 (1,5%, IC 95% 0,75-2,25) pacientes con genotipo asociado a DAAT grave, de los cuales 12 ZZ (1,2%, IC 95% 0,52-1,87) y 3 SZ (0,3%, IC 95% 0-0,64). Los 202 pacientes restantes se clasificaron como: 29 heterocigotos Z (2,89%, IC 95% 1,86-3,93), 25 heterocigotos S (2,5%, IC 95% 1,53-3,46) y 4 SS (0,4%, IC 95% 0,01-0,79). Por otra parte, en 144 pacientes (14,37%, IC 95% 12,2-16,54) no se llegó a un diagnóstico definitivo. Conclusión: La estrategia utilizada con concentración sérica inicial de AAT según la proteína en sangre seca y posterior genotipado resultó adecuada como primera aproximación a un programa de cribado de DAAT grave, ya que se logró el diagnóstico definitivo en un 87% de los pacientes. Sin embargo, no se obtuvieron resultados por razones logísticas en el 13% restante. La implementación de técnicas para fenotipado en proteína en sangre seca permitirá corregir este significativo problema en esta etapa. Creemos que los resultados obtenidos avalarían su aplicación para la detección DAAT en poblaciones de pacientes con EPOC en cumplimiento de las recomendaciones de las guías nacionales e internacionales

Introduction: Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder associated with early onset chronic obstructive pulmonary disease (COPD) and liver disease. It is also a highly under-diagnosed condition. As early diagnosis could prompt specific interventions such as smoking cessation, testing of family members, genetic counselling and use of replacement therapy, screening programs are needed to identify affected patients. Objective: To estimate the prevalence of severe AATD in COPD patients by routine dried blood spot testing and subsequent genotyping in patients with alpha-1 antitrypsin (AAT) levels below an established threshold. Materials and methods: Cross-sectional study of adult COPD patients attending the Hospital Dr. Antonio Cetrángolo (Buenos Aires, Argentina) between 2009 and 2012. The study consisted of capillary blood collection via finger stick to determine AAT levels, clinical evaluation and lung function tests. Genotype was determined in AAT-deficient patients. Results: A total of 1,002 patients were evaluated, of whom 785 (78.34%) had normal AAT levels, while low AAT levels were found in 217 (21.66%). Subsequent genotyping of the latter sub-group found: 15 (1.5%, 95% CI 0.75-2.25) patients with a genotype associated with severe AATD, of whom 12 were ZZ (1.2%, 95% CI 0.52-1.87) and 3 SZ (0.3%, 95% CI 0-0.64). The remaining 202 patients were classified as: 29 Z heterozygotes (2.89%, 95% CI 1.86-3.93), 25 S heterozygotes (2.5%, 95% CI 1.53-3.46) and 4 SS (0.4%, 95% CI 0.01-0.79). A definitive diagnosis could not be reached in 144 patients (14.37%, 95% CI 12.2-16.54). Conclusion: The strategy using an initial serum AAT level obtained by dried blood spot testing and subsequent genotyping was a satisfactory initial approach to a screening program for severe AAT, as a definitive diagnosis was achieved in 87% of patients. However, results were not obtained for logistical reasons in the remaining 13%. This major obstacle may be overcome by the use of dried blood spot phenotyping techniques. We believe this approach for detecting AATD in COPD patients, in compliance with national and international guidelines, is supported by our results

Imagen corporal y realización de dieta: diferencias entre adolescentes españolas y latinoamericanas / Body Image and Dieting: Differences between Spanish Adolescents and Latinamericans Adolescents

Se realizó un estudio comparativo para analizar las diferencias entre adolescentes españolas e inmigrantes latinoamericanas en diferentes componentes de la imagen corporal y conductas de control del peso que suponen un riesgo para el desarrollo de trastornos de la conducta alimentaria (TCA). Asimismo, se determinó cuáles variables tienen un mayor valor predictivo para la realización de dieta en las adolescentes. La muestra estaba compuesta por 403 mujeres de 13 a 17 años, 191 españolas y 212 inmigrantes latinoamericanas. Se recogieron variables sociodemográficas, imagen corporal (estado nutricional, autopercepción, insatisfacción y miedo a ganar peso), hábitos de alimentación y conductas de control del peso (dieta, vómitos autoinducidos y toma de laxantes). Los resultados mostraron que no había diferencias entre las adolescentes españolas y las latinoamericanas en el estado nutricional, en la forma de autopercepción, en sus expectativas de imagen, ni en el nivel de insatisfacción corporal. Sin embargo, había diferencias en la autopercepción del atractivo físico, en el miedo a ganar peso, en los hábitos de alimentación y en la realización de dieta. Un porcentaje significativamente mayor de adolescentes latinoamericanas se percibía atractiva, tenía más miedo a ganar peso, presentaba peores hábitos alimenticios y había realizado dieta.

A comparative study was done to analyze the differences between Spanish adolescent and Latin American immigrants at the same age in various components of body image and weight control behaviors related to development of eating disorders (ED). Likewise the study analysed what variables had a major predictive value of dieting among the adolescents. The sample group was formed by 403 females from 13 to 17 years old, 191 Spanish and 212 Latin American immigrants. Certain variables were collected such as socio-demographic, body image (nutritional state, self-perception, dissatisfaction and fear about gain weight), eating habits and weight control behaviors (diet, self-induce vomiting and taking laxatives). The results showed there were not differences between the Spanish and Latin American adolescent girls in the nutritional state, in how they perceived their body image, in their desired figure, nor in the level of body dissatisfaction. However, there were differences in their self-perception of physical attractiveness, in their fear of gaining weight, in their eating habits and dieting. A significant percentage of the Latin American adolescents perceived themselves as attractive, they were more fearful of gaining weight; they had worse eating habits and dieted more.

Diferencias en la frecuencia de experiencias emocionales positivas y negativas en mujeres con distintos tipos de trastornos de la conducta alimentaria / Differences in the frequency of positive and negative emotional experiences in women with different types of eating disorders

Con el objetivo de conocer la experiencia emocional de las mujeres con trastornos de la conducta alimentaria (TCA), analizamos la frecuencia con la que mujeres con distintos tipos de TCA tienen diversas experiencias emocionales positivas y negativas. Participaron 98 mujeres con TCA y 100 mujeres controles. De las mujeres con TCA, 17 tenían bulimia nerviosa (BN) purgativa, otras 17 BN no purgativa, 42 cumplían la mayoría de los criterios del DSM-IV-TR para una BN y 22 cumplían la mayoría de los criterios para una anorexia nerviosa (AN). Se diseñó ad hoc la Escala de Frecuencia de Experiencias Emocionales Positivas y Negativas. Los resultados mostraron que las mujeres que experimentaban emociones positivas menos frecuentemente y emociones negativas más frecuentemente eran las que cumplían la mayoría de los criterios para una AN. Por otra parte, las diferencias emocionales más claras se daban entre los casos que cumplían la mayoría de los criterios para una AN y los que cumplían la mayoría de los criterios para una BN. Estos resultados, además de tener implicaciones clínicas importantes, sugieren la necesidad de seguir estudiando este tema para confirmar si, como apuntan estos resultados, es necesario revisar la categoría de trastornos no especificados del DSM-IV-TR (AU)

With the aim of exploring the emotional experience of women suffering from eating disorders (EDs), we analyzed the frequency with which women with different types of EDs have diverse positive and negative emotional experiences. Participants were 98 women with EDs and 100 controls. Of the women with EDs, 17 had purgative bulimia nervosa (BN), 17 had non-purgative BN, 42 fulfilled the majority of DSM-IV-TR criteria for BN and 22 fulfilled the majority of criteria for anorexia nervosa (AN). The Positive and Negative Emotional Experience Frequency Scale was designed ad hoc for the study. The results revealed that women who experienced positive emotions less frequently and negative emotions more frequently were those who fulfilled the majority of criteria for AN. Also, the clearest emotional differences were observed between those who fulfilled the majority of criteria for AN and those who fulfilled the majority of criteria for BN. In addition to having important clinical implications, these results also suggest the need to continue studying this question in order to confirm whether (as the results suggest) it is necessary to review the DSM-IV-TR non-specific disorder category (AU)