Immunoglobulin E-mediated severe allergy to hyoscine butylbromide

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Nefropatía por mieloma múltiple / Nephropathy due to multiple myeloma

Resumen Gran parte de los pacientes con mieloma múltiple inician con signos y síntomas relacionados con la infiltración de células plasmáticas o el exceso de cadenas ligeras kappa. La enfermedad renal es común con enfermedad heterogénea que puede involucrar diferentes mecanismos. Se comunica el caso de un paciente con sospecha de mieloma múltiple debido a la existencia de lumbalgia, insuficiencia renal, anemia e hipercalcemia; con electroforesis de proteínas séricas negativa para hipergammaglobulinemia, en quien se confirmó el diagnóstico al demostrar la existencia de cadenas ligeras kappa en tejido renal; se realiza una revisión de la bibliografía actual.

Abstract Much of the patients with multiple myeloma present with signs and symptoms related to plasma cells infiltration or by the excess of kappa light chains. Kidney disease is common and has a heterogeneous pathophysiology that may involve different mechanisms. We present the case of a patient with suspected multiple myeloma because of low back pain, renal failure, anemia and hypercalcemia; without hipergammaglobulinemia in the electrophoresis, in whom the diagnosis was confirmed by the presence of kappa chains light in renal tissue; a review of current literature is made.

Terapia de ondas de choque lineales en el tratamiento de la disfunción eréctil / Linear shock wave therapy in the treatment of erectile dysfunction

Introducción: La terapia de ondas de choque lineales (LSWT) es una nueva terapia no invasiva que utiliza ondas de choque de baja intensidad para inducir la angiogénesis local controlada y mejorar significativamente la función eréctil. Objetivo: Evaluar la eficacia de la LSWT en hombres con disfunción eréctil vasculogénica (DE) en un centro de atención de tercer nivel. Material y métodos: Se incluyeron 15 hombres de edades comprendidas entre 45 y 70 años, sexualmente activos con DE vascular leve y moderada, evaluados con el índice internacional de función eréctil (IIEF). El estudio se realizó en 3 etapas: detección, tratamiento y seguimiento. Recibieron 4 sesiones de LSWT semanales (RENOVA®) 5.000 ondas (0,09 mJ/mm2). La función eréctil se evaluó con IIEFF-EF, Perfil del encuentro sexual (SEP) y Cuestionario de evaluación global (GAQ) al mes y a los 6 meses después del tratamiento. Resultados: La tasa de éxito fue del 80% (12/15). Pacientes con DE leve 40% y DE moderada 60%. Se encontró una asociación positiva entre el IIEF-basal (promedio 14,23 pts) y IIEF un mes y 6 meses después del tratamiento (19,69 pts) una diferencia de 5,46 puntos (p < 0,013). Conclusiones: La factibilidad y tolerabilidad de este tratamiento, y sus características potenciales de rehabilitación, hacen que pueda ser una nueva opción terapéutica atractiva para pacientes con DE

Introduction: Linear Shock Wave Therapy (LSWT) is a new noninvasive therapy that uses low-intensity shock waves to induce local angiogenesis promising modality in the treatment of erectile dysfunction (ED). Objective: To evaluate the effectiveness of LSWT in men with vasculogenic erectile dysfunction (ED), in a Tertiary Care Center. Material and methods: Included 15 men aged 45-70 years, sexually active with mild and moderate vascular ED evaluated with the International Index of Erectile Function (IIEF). The study was conducted in three stage: screening, treatment and results. Treatment stage: 4 weekly sessions LSWT (RENOVA ®) 5000 waves (.09 mJ/mm2). Erectile function was assessed with IIEFF-EF, SEP (Sexual Encounter Profile) and GAQ (Global Assessment Questions) at one and six months after treatment. Results: The rate of success was 80% (12/15). Patients with mild ED (6/15) 40% and moderate ED (9/15) 60%. We found a positive association between IIEF-Basal (average 14.23 pts) and IIEF at one month and six months after therapy (19.69 pts) a difference of 5.46 pts. (P < .013). Conclusions: The feasibility and tolerability of this treatment, and rehabilitation potential features, make it this an attractive new treatment option for patients with ED

Genetic analysis in retinoblastoma and peripheral blood correlation.

OBJECTIVE: To determine the importance of intratumoral genetic analysis in the diagnosis of germ-line mutations in patients with retinoblastoma. To underline the importance of performing these genetic tests in every case of retinoblastoma. METHOD: Intratumoral genetic analysis of RB1 mutation was performed on 17 enucleated eyes that were non-responsive to conservative treatment. Patients had no family history of retinoblastoma, and lesions were always single. The identified mutations were then also studied in peripheral blood analysis. RESULTS: There were 12 (70.6%) cases with positive results in intratumoral analysis. In 8 cases (47.1%) mutation of both RB1 alelli were detected, and in 4 (23.5%) cases only one allele was found mutated. In 5 patients (29.4%) no mutation was identified. In the first hit, mutations comprised 7 frameshift or nonsense and 2 splice, whereas in the second hit, one splice mutation, 2 nonsense and 8 loss of heterozygosity were identified. Among 6 patients where intratumoral analysis detected a single mutation associated with a loss of heterozygosity, the peripheral blood analysis was able to detect the same mutation in 3 cases (50%). CONCLUSIONS: Intratumoral genetic analysis of sporadic retinoblastoma can detect germ-line mutations. These patients are at higher risk of bilateralization and development of second tumors or trilateral retinoblastoma. Genetic screening is recommended in every patient diagnosed with retinoblastoma.

[Genetic analysis results of patients with a retinoblastoma refractory to systemic chemotherapy]. / Resultados del analisis genético de los pacientes con retinoblastoma resistente a quimioterapia sistémica.

OBJECTIVE: To analyze the genetic alterations identified in the RB1 gene in retinoblastoma patients who do not respond to systemic chemotherapy. METHODS: A genetic analysis was performed on 115 patients with retinoblastoma, 40 of whom had received systemic chemotherapy, and 29 of them had bilateral disease. Descriptive and retrospective study. Non-responders were considered as patients who are finally enucleated. RESULTS: Patients with deletion type mutations are those with less preservation of the eyeball (Pearson Chi-square, P=.055). Patients with an impaired nonsense-frameshift type are more likely to preserve the eyeball. Of the 3 patients who had undergone bilateral enucleation, 2 of them had deletions and one missense alteration. Survival analysis (Kaplan-Meier curve) shows that patients with deletion type mutations are more resistance to chemotherapy, are suffering higher rates of enucleation, and for a shorter period of time (log rank [Mantel-Cox] with a significance level of P=.053), which are also associated with increased rate of being bilateral. CONCLUSIONS: Patients with a genotype show increased resistance to chemotherapy should be evaluated more closely and treated with various therapeutic weapons early. Patients that have deletions in the RB1 gene are at increased risk of chemoresistance. It is likely that other genetic alterations other than RB1 gene may be related to tumor aggressiveness and treatment resistance.

Linear shock wave therapy in the treatment of erectile dysfunction.

INTRODUCTION: Linear Shock Wave Therapy (LSWT) is a new noninvasive therapy that uses low-intensity shock waves to induce local angiogenesis promising modality in the treatment of erectile dysfunction (ED). OBJECTIVE: To evaluate the effectiveness of LSWT in men with vasculogenic erectile dysfunction (ED), in a Tertiary Care Center. MATERIAL AND METHODS: Included 15 men aged 45-70 years, sexually active with mild and moderate vascular ED evaluated with the International Index of Erectile Function (IIEF). The study was conducted in three stage: screening, treatment and results. Treatment stage: 4 weekly sessions LSWT (RENOVA ®) 5000 waves (.09mJ/mm(2)). Erectile function was assessed with IIEFF-EF, SEP (Sexual Encounter Profile) and GAQ (Global Assessment Questions) at one and six months after treatment. RESULTS: The rate of success was 80% (12/15). Patients with mild ED (6/15) 40% and moderate ED (9/15) 60%. We found a positive association between IIEF-Basal (average 14.23 pts) and IIEF at one month and six months after therapy (19.69 pts) a difference of 5.46 pts. (P<.013). CONCLUSIONS: The feasibility and tolerability of this treatment, and rehabilitation potential features, make it this an attractive new treatment option for patients with ED.

Central obesity and altered peripheral adipose tissue gene expression characterize the NAFLD patient with insulin resistance: Role of nutrition and insulin challenge.

OBJECTIVE: Insulin resistance (IR) and white adipose tissue (WAT) dysfunction frequently are associated with nonalcoholic fatty liver disease (NAFLD); however, the pathogenic mechanisms contributing to their clustering are not well defined. The aim of this study was to define some nutritional, anthropometric, metabolic, and genetic mechanisms contributing to their clustering. METHODS: Forty-five (20 men, 25 women) patients (age 45.7 ± 11.1 y) with recent diagnosis of NAFLD were grouped according to IR state. Energy balance was assessed using a food questionnaire and indirect calorimetry, and body composition with anthropometry and dual-energy x-ray absorptiometry. Biochemical and hormonal parameters combined with adipose tissue gene expression were determined. Microarray analysis of gene expression was performed in a subset of WAT samples from IR patients (n = 9), in the fasted state, after specific test meals (monounsaturated fatty acid [MUFA], saturated fat [SAT], and carbohydrate-rich) and after being challenged with insulin. RESULTS: IR patients exhibited higher trunk fat to leg fat ratio (P < 0.05) and had a higher ratio of SAT/MUFA fat intake (P < 0.05) than insulin-sensitive (IS) individuals. Deposition of fat in the trunk but not in the leg was directly related to liver enzyme levels (P < 0.05). IR patients also had lower adiponectin serum levels and leptin (LEP) mRNA expression in WAT compared with IS patients (P < 0.01 and P < 0.05, respectively). Microarray analysis after insulin challenge confirmed that insulin treatment induces the expression of PPARG gene and LEP and decreases GCGR gene (P < 0.05 for all) in WAT. No changes in these genes were observed in the postprandial state induced after the acute effect of specific diets. CONCLUSIONS: Patients exhibiting NAFLD and IR had preferential central fat deposition directly related to their serum alanine aminotransferase levels. These patients showed peripheral adipose tissue dysfunction and exhibited inappropriately low LEP biosynthesis that could be partially restored after anabolic conditions induced by insulin signaling.

[Trilateral retinoblastoma. Correlation between the genetic anomalies of the RB1 gene and the presence of pineal gland cysts]. / Retinoblastoma trilateral. Correlación de las alteraciones genéticas del gen RB1 y la presencia de quistes de la glándula pineal.

OBJETIVE: To determine the correlation between the presence of genetic anomalies identified in the RB1 gene and the development of trilateral retinoblastoma. METHOD: No patients with primitive neuroectodermal tumour (PNET) were identified out of a total of 206 patients, but there were 17 cases of pineal cysts, of which 11 had a genetic study. RESULTS: Of the 11 patients who had a genetic study performed, the anomaly in the germinal line was identified in 8 cases, which was equivalent to 100% of the bilateral retinoblastomas, and 25% of the unilateral ones. It is more common to find a germinal mutation in patients with bilateral disease (P=.024). There are no significant differences in the type of anomaly identified, although the nonsense-frameshift type is more frequent in cases with bilateral involvement. Identification of the genetic anomaly is more frequent in patients who have pineal cysts (Fisher test; P=.490). Nine of the 17 patients received systemic chemotherapy (52.29% of the cases), which could be able to prevent the development of PNET. Although a certain trend was observed in all the mentioned parameters, there was a relationship between, the presence of pineal cysts and bilateral disease (Pearson Chi X2: P=.191), a known family history (Fisher test; P=.114) and age of early diagnosis (Fisher test; P=.114). There were no significant differences in the mutation type identified. CONCLUSIONS: Considering pineal cysts as a pre-malignant form of pinealoblastoma, we found a relationship between the germinal line mutation of the RB1 gene and the cases with bilateral or unilateral retinoblastoma.

Heart rate variability and phantom pain in male amputees: application of linear and nonlinear methods.

Phantom-limb pain (PLP) is a phenomenon that may appear among people with amputation. Some studies reveal that 70% of people with amputation experience PLP years postamputation. There is a lack of scientific evidence about the cause of PLP. It has been hypothesized that the autonomic nervous system (ANS) could be involved in the mechanism that triggers PLP, but this hypothesis remains unclear. The aim of this study was to correlate ANS function, through heart rate variability (HRV) analysis, with PLP in adult males with amputation. The study population comprised 35 subjects, with 27 reporting PLP often or always. The rest of the subjects did not report any PLP. In order to calculate linear and nonlinear parameters of HRV, all subjects underwent 10 min of resting heart rate monitoring. The study did not find correlations between HRV parameters and PLP. Most of the subjects showed decreased values in linear parameters of HRV while nonlinear values were normal. HRV is not implicated in PLP. Linear and nonlinear methods for HRV analysis might reflect different physiological phenomena; while linear values place people with amputation at cardiovascular risk, nonlinear values indicate normality.

Changes of somatotype in high school students, V region, Chile: 1985-2010.

OBJECTIVE: To determine the trend of high school students from Valparaíso Chile by means of an anthropometrical somatotype. MATERIAL AND METHODS: two samples of students during the years 1984-1985 (86 men and 71 women) and 2009-2010 (77 men and 86 women) between 15 and 18 years of age have been studied. Somatotype was estimated by the Heath-Carter anthropometric method. RESULTS: significant differences were found in all the variables of the somatotype during the periods studied (p < 0.01), except for height (p = 0.176) and humeral breadth in women (p = 0.067). Important distinctions were also found in the endomorphic, mesomorphic and ectomorphic components (p < 0.01). Men measurements registered remarkable differences in all the variables (p < 0.01), with the exception of weight (p = 0.156), calf breadth (p = 0.906) and arm breadth in contraction (p = 0.284). Measurement results of endomorphic (p < 0.01), ectomorphic (p < 0.01) and mesomorfic components (p < 0.05) revealed considerable differences. During the period 1984-1985, men classified as balanced mesomorph 2.7-4.8-3.1 which switched to mesomorph-endomorph 3.8-4.3-2.5 in the period 2009-2010. And the population of women in the 1984-1985 period is classified as mesomorph-endomorph 4.2-4.7-2.1 and changes to a mesomorphic-endomorph biotype 6.6-4.1-1.3 in the 2009-2010. CONCLUSIONS: the somatotype of the adolescent population, especially women in Valparaiso, Chile has changed to a predominant endomorphic biotype, and its mesomorphic component has decreased. A high relative adiposity contributes to increase the probability for these people to suffer non-transmissible chronic diseases and cardiovascular issues.

Changes of somatotype in high school students, V region, Chile: 1985-2010 / Desplazamiento del somatotipo de estudiantes de enseñanza secundaria, V región, Chile: 1985-2010

Objective: To determine the trend of high school students from Valparaíso Chile by means of an anthropometrical somatotype Material and methods: two samples of students during the years 1984-1985 (86 men and 71 women) and 2009-2010 (77 men and 86 women) between 15 and 18 years of age have been studied. Somatotype was estimated by the Heath-Carter anthropometric method. Results: significant differences were found in all the variables of the somatotype during the periods studied(p < 0.01), except for height (p = 0.176) and humeral breadth in women (p = 0.067). Important distinctions were also found in the endomorphic, mesomorphic andectomorphic components (p < 0.01). Men measurements registered remarkable differences in all the variables (p <0.01), with the exception of weight (p = 0.156), calf breadth (p = 0.906) and arm breadth in contraction (p =0.284). Measurement results of endomorphic (p<0.01),ectomorphic (p < 0.01) and mesomorfic components (p <0.05) revealed considerable differences. During the period 1984-1985, men classified as balanced mesomorph 2.7-4.8-3.1 which switched to mesomorph-endomorph 3.8-4.3-2.5 in the period 2009-2010.And the population of women in the 1984-1985 period is classified as mesomorph-endomorph 4.2-4.7-2.1 and changes to a mesomorphic-endomorph biotype 6.6-4.1-1.3 in the 2009-2010.Conclusions: the somatotype of the adolescent population, especially women in Valparaiso, Chile has changedto a predominant endomorphic biotype, and its mesomorphic component has decreased. A high relative adiposity contributes to increase the probability for these people to suffer non-transmissible chronic diseases and cardiovascular issues (AU)

Objetivo: Determinar la tendencia de una población de estudiantes de educación secundaria de Valparaíso, Chilea través del somatotipo. Material y métodos: Se han estudiado dos muestras de estudiantes durante los períodos 1984-1985 (hombres 86y mujeres 71) y 2009-2010 (hombres 77 y mujeres 86) de15 a 18 años. Se registraron los datos antropométricos para evaluar el somatotipo antropométrico de Heath Carter. Resultados: Para todas las variables del somatotipo de Heath-Carter se encontraron diferencias significativas entre los períodos estudiados (p < 0,01) excepto para talla(p = 0,176) y diámetro humeral (p = 0,067) en mujeres,para los componentes endomorfo, mesomorfo y ectomorfo también se registran diferencias significativas (p <0,01). En hombres, se registran diferencias significativas para todas las variables (p < 0,01) con excepción de peso(p = 0,156), perímetro de pierna (p=906) y perímetro de brazo en contracción (p = 0,284). También se observan diferencias significativas en los componentes endomorfo(p < 0,01), ectomorfo (p < 0,01) y mesomorfo (p < 0,05). La población de mujeres del periodo 1984-1985 se clasifica como endomorfo-mesomorfo 4,2-4,7-2,1 y cambia a un perfil endo-mesomórfico 6,6-4,1-1,3 en el 2009-2010. En los hombres en el periodo 1984-1985 se clasifica como mesomorfismo balaceado 2,7-4,8-3,1 y cambia a un endomorfo-mesomorfo 3,8-4,3-2,5 en el periodo 2009-2010. Conclusiones: El somatotipo de la población de adolescentes de Valparaíso, Chile se ha desplazado hacia un biotipo predominantemente endomorfo sobre todo en mujeres y ha disminuido su componente mesomórfico. Este perfil con una alta adiposidad relativa contribuye a aumentar las probabilidades de que esta población sufra enfermedades crónicas no transmisibles y cardiovasculares (AU)

Urological complications after simultaneous pancreas-kidney transplantation.

OBJECTIVE: We evaluated the incidence of urological complications after simultaneous renal and pancreatic transplantation. PATIENTS AND METHODS: We retrospectively reviewed urological complications following 107 simultaneous kidney-pancreas transplantations performed at our institution between March 1995 and June 2008. The 46 women and 61 men were of mean age 37.8 years (range, 25-66). The mean duration of diabetes mellitus was 23.0 years (range, 9-48) and the mean duration of dialysis was 19.9 months (range, 0-70). The exocrine pancreatic secretions were drained to bladder in 58 cases, or enterically in 49 patients. The mean length of follow-up was 51.7 months. RESULTS: The most frequent urological complication was urinary tract infection, reported in 63.8% of patients: 42 bladder-drained and 25 enteric-drained (P = .011). Hematuria occurred in 13 patients (12.5%): 12 bladder-drained and 1 enteric-drained (P = .002). Five bladder-drained patients developed bladder calculi. Among 58 bladder-drained patients, reflux pancreatitis occurred in 28 patients and urine leaks related to the pancreatic graft occurred in 7 patients. Conversion of exocrine secretions from bladder to enteric diversion was required in 6 patients. One- and 3-year patient survival rates were 92.7% and 89.1%, respectively. Moreover, 1 and 3-year kidney graft survival rates were 90.6% and 84.4%, and pancreas graft survival rates were 78.1 and 70.3%, respectively. CONCLUSION: Simultaneous kidney-pancreas transplantation with bladder drainage is associated with a high frequency of urological complications. Appropriate treatment can resolve most complications. In our opinion, both enteric and bladder drainage seemed to be safe and effective alternatives to manage pancreatic exocrine secretions.

Epidemiología de la tuberculosis / Epidemiology of tuberculosis

La tuberculosis, “vieja conocida de la Neumología”, constituye todavía una enfermedad con una alta morbimortalidad en el mundo lo que hace que, pese a estar en el siglo XXI, continúe recabando nuestra atención, se planteen grandes retos como el control de la misma y surgan nuevos problemas como la emergencia de la tuberculosis multirresistente. Así pues, constituye para la Organización Mundial de la Salud una enfermedad de gran interés que le ha llevado a desarrollar un programa específico y ambicioso que pretende su erradicación para el año 2050. En este capítulo detallamos algunos de los aspectos más interesantes de la epidemiología de esta enfermedad, con una atención especial para el problema de la tuberculosis multirresistente y se exponen datos actual

Tuberculosis, that “old acquaintance of Pneumology”, is still a disease with a high morbidity and mortality in the world. This is why, in spite of our having entered the XXI century, it continues to demand our attention, great challenges continue to be faced, such as bringing it under control, and new problems continue to arise, such as the emergence of multiresistant tuberculosis. Thus, for the World Health Organisation, it represents a disease of great importance that has led this body to develop a specific and ambitious program that aims at its eradication by the year 2050. In this article we detail some of the most interesting aspects of the epidemiology of this disease, with special attention paid to the problem of multiresistant tuberculosis, and we present up to date data on the morbidity and mortality of tuberculosis in the world

[Other obstructive diseases: byssinosis, chronic bronchitis and occupational COPD and eosinophilic bronchitis]. / Otras enfermedades obstructivas: bisinosis, bronquitis crónica y EPOC de origen laboral y bronquitis eosinofílica.

Besides occupational asthma and diseases derived from acute inhalation, other obstructive diseases also have an occupational origin. Although at present byssinosis is a rare disease in Spain, we describe its characteristics because of its historical interest amongst occupational respiratory diseases and because it is still relevant in developing countries. Chronic bronchitis can also be related to exposure at work to dust and smoke, and is often referred to as "industrial bronchitis". Historically, the relation of CPOD to occupation has been subject to controversy, but nowadays this relationship is accepted; we describe the present evidence supporting this relationship. Finally, we describe eosinophilic bronchitis without asthma, an entity that was described for the first time in 1989 and that can sometimes have an occupational origin, sharing aetiological agents with occupational asthma.