Cytogenomic characterization of small supernumerary marker chromosomes in patients with pigmentary mosaicism.

Introduction: The combination of gene content on the marker chromosome, chromosomal origin, level of mosaicism, origin mechanism (chromothripsis), and uniparental disomy can influence the final characterization of sSMCs. Several chromosomal aberrations, including sSMCs, have been observed in 30%-60% of patients with pigmentary mosaicism, and in more than 80%, chromosomal abnormalities are present in the mosaic state. In patients with pigmentary mosaicism the most representative chromosomes involved in sSMCs are 3, 5, 6, 9, 10, 13, 15, 18, 20, and X. In this study, we included the complete clinical, cytogenetic, and molecular characterization of seven patients with pigmentary mosaicism associated with the presence of SMCs of different chromosomal origins. Methods: The patients were diagnosed by the Genetics and Dermatology Department of three different hospitals. Cytogenetic and FISH analyses were performed on peripheral blood, light skin, and dark skin. FISH analysis was performed using different probes, depending on the marker chromosome description. Different array analysis was performed. Results: To date, of the seven cases studied, the chromosomal origins of six were successfully identified by FISH or array analysis. The chromosomes involved in SMCs were 6, 9, 15, and 18, X. The most frequently found was the centric minute structure. Discussion: To date, this group of seven patients constitutes the largest clinical and cytogenetically finely described study of cases with pigmentary mosaicism associated with sSMCs. Undoubtedly, analysis of the two skin types is a fundamental part of our study, as numerical differences may occur in the cell lines found in each skin type. The knowledge generated in this study will help delineate a very heterogeneous entity more accurately, and in the future, analyzing more patients with PM will likely establish a more definite association with the presence of this genetic alteration.

Lower access to risk stratification tests and drugs, and worse survival of chronic lymphocytic leukaemia patients treated in public as compared to private hospitals in Brazil: A retrospective analysis of the Brazilian registry of chronic lymphocytic leukaemia.

Chronic lymphocytic leukaemia (CLL) has a highly variable clinical course. In addition to biological factors, socioeconomic factors and health system characteristics may influence CLL outcome. Data from the Brazilian Registry of CLL were analyzed to compare clinical and treatment-related characteristics in patients with CLL, from public or private institutions. A total of 3326 patients from 43 centres met the eligibility criteria, of whom 81% were followed up at public hospitals and 19% at private hospitals. The majority were male (57%), with a median age of 65 years. Comparing public and private hospitals, patients in public hospitals were older, had more advanced disease at diagnosis, and more frequently had elevated creatinine levels. All investigated prognostic markers were evaluated more often in private hospitals. First-line treatment was predominantly based on chlorambucil in 41% of the cases and fludarabine in 38%. Anti-CD20 monoclonal antibody was used in only 36% of cases. In public hospitals, significantly fewer patients received fludarabine-based regimens and anti-CD20 monoclonal antibodies. Patients from public hospitals had significantly worse overall survival (71% vs. 90% for private hospitals, p < 0.0001) and treatment-free survival (32% vs. 40%, for private hospitals, p < 0.0001) at seven years. Our data indicate striking differences between patients followed in public and private hospitals in Brazil. A worse clinical condition and lack of accessibility to basic laboratory tests and adequate therapies may explain the worse outcomes of patients treated in public institutions.

Poor Sleep quality and health-related quality of life impact in adolescents with and without chronic immunosuppressive conditions during COVID-19 quarantine

OBJECTIVE: To assess the possible factors that influence sleep quality in adolescents with and without chronic immunosuppressive conditions quarantined during the coronavirus disease 2019 (COVID-19) pandemic. METHODS: This cross-sectional study included 305 adolescents with chronic immunocompromised conditions and 82 healthy adolescents. Online surveys were completed, which included questions on socio-demographic data and self-rated healthcare routine during COVID-19 quarantine and the following validated questionnaires: the Pittsburgh Sleep Quality Index (PSQI), Pediatric Quality of Life Inventory 4.0 (PedsQL4.0), and Pediatric Outcome Data Collection Instrument (PODCI). RESULTS: The median current age [14 (10-18) vs. 15 (10-18) years, p=0.847] and frequency of female sex (62% vs. 58%, p=0.571) were similar in adolescents with chronic conditions compared with healthy adolescents. The frequency of poor sleep quality was similar in both groups (38% vs. 48%, p=0.118). Logistic regression analysis, including both healthy adolescents and adolescents with chronic conditions (n=387), demonstrated that self-reported increase in screen time (odds ratio [OR] 3.0; 95% confidence interval [CI] 1.3-6.8; p=0.008) and intrafamilial violence report (OR 2.1; 95% CI 1.2-3.5; p=0.008) were independently associated with poor sleep quality in these adolescents. However, the PODCI global function score was associated with a lower OR for poor sleep quality (OR 0.97; 95% CI 0.94-0.99; p=0.001). Further logistic regression, including only adolescents with chronic conditions (n=305), demonstrated that self-reported increase in screen time (OR 3.1; 95% CI 1.4-6.8; p=0.006) and intrafamilial violence report (OR 2.0; 95% CI 1.2-3.4; p=0.011) remained independently associated with poor quality of sleep, whereas a lower PODCI global function score was associated with a lower OR for sleep quality (OR 0.96; 95% CI 0.94-0.98; p<0.001). CONCLUSION: Self-reported increases in screen time and intrafamilial violence report impacted sleep quality in both healthy adolescents and those with chronic conditions. Decreased health-related quality of life was observed in adolescents with poor sleep quality.

Genetic and clinical characterization of 73 Pigmentary Mosaicism patients: revealing the genetic basis of clinical manifestations.

BACKGROUND: Pigmentary mosaicism constitutes a heterogeneous group of skin pigmentation alterations associated with multisystem involvement. The aim of this study was to establish a complete cytogenetic and molecular characterization of PM patients, emphasizing on searching for possible low chromosomal mosaicism and on establishing an accurate genotype-phenotype correlation. RESULTS: A total of 73 patients were included (3 months to 18 years of age), 52% male and 48% female. Observed in 69 (95%) patients, the most frequent pattern of pigmentation was fine and whorled BL, which was associated with disseminated skin extent in 41 (59%) patients. Central nervous system (84%) alterations were the most frequent observed in the group of patients, followed by the musculoskeletal (53%) and ophthalmologic (27%) alterations. Considering the pattern of pigmentation, no significant differences in association with skin extent or extracutaneous manifestations were detected. Following a strict cytogenetic analysis strategy, screening metaphases from three different tissues (peripheral blood, hyperpigmented and hypopigmented skin) we found that 23/73 patients had chromosomal abnormalities classified as follows: 1) Mosaic with 2 or more different cell lines with structural alterations n = 19; 2) Polyploidy (mosaic) n = 1 and 3) Alterations in all cells in three different tissues n = 3. SNP array, array CGH and FISH were useful for the complete characterization of the chromosomal aberrations, for the detection of microdeletions in patients with normal karyotype but with strong clinical suspicious of chromosomal alteration, and for a better establishment of genotype-phenotype correlation. In 2 patients we found genes associated with some of the extracutaneous manifestations (SHH, MNX1, PPP2R2C). CONCLUSIONS: This group of 73 patients finely described is the largest series of patients with pigmentary mosaicism reported worldwide. As we showed in this study, the followed analysis strategy allowed the detection of cytogenetic and molecular abnormalities, and made possible the establishment of genotype-phenotype associations in some patients. An important limitation of our study was the analysis of fibroblasts cultures instead of melanocytes and keratinocytes. In some cases the direct molecular DNA analysis of skin biopsy could be another choice.

Tracking morphological complexities of organ development in culture.

Organogenesis is one of the most striking process during development. During this period, organ primordia pass throughout several stages in which the level of organisation increases in complexity to achieve the final organ architecture. Organ culture, a method in which an isolated organ is explanted and maintained ex-vivo, is an excellent tool for following the morphological dynamics during development. While most of the work has been made in early stages of development, culturing organs in mid-late stages is needed to understand the achievement of the final organ anatomy in the new-born. Here, we investigated the possibility of following morphological changes of the mice heart, lung, kidney and intestine using a filter-grid culture method for 7 days starting at E14.5. We observed that the anatomy, histology and survival of the cultured organs were indicative of a continuity of the developmental processes: they survived and morphodifferentiated during 5-7 days in culture. The exception was the heart, which started to die after 4 days. Using a second approach, we demonstrated that heart tissue can be easily cultured in body slices, together with other tissues such as the lung, with a healthier differentiation and longer survival. The culture method used here, permits a high-resolution imaging to identify the dynamic of organ architecture ex-vivo using morphovideos. We also confirmed the suitability of this system to perform lineage tracing using a vital dye in branching organs. In summary, this work tested the feasibility of monitoring and recording the anatomical changes that establish the final organ structure of the heart, lung, kidney and intestine. Additionally, this strategy allows the morphological study of organ development including fate maps with a relative long-term survival up to the onset of differentiation. This work contributes to elucidating how organs are formed, promoting the understanding of congenital malformations and to design organ replacement therapies.

Low concentrations of permethrin and malathion induce numerical and structural abnormalities in KMT2A and IGH genes in vitro.

Pesticides are commonly used worldwide and almost every human is potentially exposed to these chemicals. Exposure to pesticides such as permethrin and malathion has been associated with hematological malignancies in epidemiological studies. However, biological evidence showing if these chemicals induce genetic aberrations involved in the etiology of leukemia and lymphoma is missing. In our previous work, we have shown that a single high exposure (200 µm, 24 hours) of permethrin and malathion induce damage in genes associated with hematological malignancies in peripheral blood mononuclear cells analyzed by interphase fluorescence in situ hybridization (FISH). In the present study, we assessed by FISH whether exposure to low concentrations (0.1 µm, 72 hours) of permethrin and malathion induce aberrations in KMT2A and IGH genes, which are involved in the etiology of leukemia and lymphoma. Peripheral blood mononuclear cells were exposed to the chemicals, and damage in these genes was assessed on interphases and metaphases. We observed that both chemicals at low concentration induced structural aberrations in KMT2A and IGH genes. A higher level of damage was observed in KMT2A gene with malathion treatment and in IGH gene with permethrin exposure. We also observed numerical aberrations induced by these chemicals. The most frequent aberrations detected on interphase FISH were also observed on metaphases. Our results show that permethrin and malathion induce genetic damage in genes associated with hematological cancer, at concentrations biologically relevant. In addition, damage was observed on dividing cells, which suggests that these cells maintain their proliferation capacity in spite of the genetic damage they possess.

Agressive pediatric myofibromatosis in a two-year-old child.

INTRODUCTION: Aggressive paediatric myofibromatosis is an autosomal recessive disease characterized by fibroblastic proliferation from cells originated in muscle-aponeurotic tissue. Its etiology is unknown, and the average age of the reported cases is 7 years old. The tumor exhibits rapid painless growth and appears attached to muscle tissue and/or bone. The treatment of choice is conservative surgical excision despite of early relapses has been reported. OBSERVATION: A 2-year-old patient, with no morbid history, presented with a large swelling in the left submandibular region, firm, neither defined limits nor inflammatory characteristics. Its size doubled 2 months after an incisional biopsy. CT images showed great compromise of the left mandibular body with expanded and thinned cortical bone. The MRI showed extension towards the pharynx. Histopathological findings were elongated fibroblastic and ovoid cells arranged in bundles and fascicles within fibromyxoid stroma, an image consistent with the diagnosis. The treatment consisted in a conservative exeresis of the tumor, preserving the jaw. Control 1 year after surgical removal shows no signs of relapse and the mandibular structure has been restored. DISCUSSION: The large size of the lesion and bone involvement at such an early age evidenced a very aggressive lesion, however, supported by a previous biopsy, we performed a conservative treatment, which only caused the loss of a dental germ, impossible to take off from the intraosseous tumor. The control of this type of lesions requires a longer follow-up.

Las alteraciones de la microbiota intestinal en la patogenia del hígado graso no alcohólico / Alterations of the intestinal microbiota in the pathogenesis of nonalcoholic fatty liver disease

Non-alcoholic fatty liver disease (NAFLD) is currently considered in Chile and worldwide, as the main cause of cirrhosis and liver transplantation. It is therefore one of the main public health objectives for reducing its prevalence. In last years, it was suggested that the intestinal microbiota (IM) might contribute to the pathophysiology of NAFLD, as well as in the progression toward nonalcoholic steatohepatitis (NASH) and cirrhosis. It is known that changes in the composition of IM are associated with alterations in intestinal permeability and the production of inflammatory metabolites. These alterations are part of the pathophysiological mechanisms leading to the development of NASH. However studies on MI in patients with NAFLD and NASH in Chile are scarce. Through a research grant, recently awarded at the Hospital Clínico Universidad de Chile, we aim to confirm and characterize the intestinal dysbiosis associated with NAFLD in Chilean patients and to establish the relationship between the changes in microbial composition with the progression of liver damage. The description of these alterations represents an opportunity to explore new therapeutic approaches for future interventions. In effect, through the restoration of an intestinal microbial environment towards homeostasis in these patients, we expect to reverse or improve the progression of damage provoked by this disease. (AU)

El aborto en Chile: aspectos epidemiológicos, históricos y legales

Antecedentes: En Chile, el aborto es ilegal en cualquier circunstancia. Objetivos: Describir la evolución epidemiológica del aborto en Chile, su relación con la introducción de los métodos anticonceptivos (MAC) y los cambios históricos de su legalidad. Adicionalmente, revisar los aspectos metodológicos de las estimaciones del aborto ilegal en Chile. Resultados: La tasa de mortalidad materna por aborto se ha reducido drásticamente en Chile, desde una de las más altas en Latinoamérica a principios del siglo XX a una de las más bajas en la actualidad. La importante reducción observada después de la introducción de los MAC refleja los cambios culturales y avances en el desarrollo económico y sanitario del país. El cambio de status del aborto legal a ilegal no se asoció a un aumento de las muertes maternas relacionadas a aborto que mantienen una reducción sostenida. Se desconoce con certeza la magnitud del aborto ilegal en Chile, metodologías utilizadas para su estimación podrían sobrestimarlo ampliamente si no se consideran factores condicionantes. Conclusión: Chile ha logrado descender drásticamente la mortalidad materna por aborto sin recurrir a la legalización o su despenalización, respetando al embrión humano desde la concepción. Se requiere considerar una metodología apropiada para el monitoreo de la prevalencia y causas de aborto ilegal que permita focalizar las intervenciones preventivas en la población vulnerable.

Background: In Chile abortion is illegal in any circumstance. Objectives: To describe epidemiological evolution of abortion in Chile, its relationship with the introduction of contraceptive methods (CM) and historical changes on its legal status. In addition, we review methodological issues of estimates of illegal abortion in Chile. Results: Maternal mortality rate to abortion have been reduced drastically in Chile, from one of the highest in Latin America at the beginning of the XX century to one of the lowest rates currently. The important reduction observed after the introduction of CM reflects cultural changes as well as economical and sanitary progress of the country. Legal status change from legal to illegal was not related to an increase in maternal mortality rate due to abortion that maintains a sustained reduction. Magnitude of illegal abortion in Chile is unknown; methodologies used for estimation may largely overestimate prevalence if conditionings factors are not taken into account. Conclusion: Chile has managed to drastically reduce maternal mortality due to abortion without recourse to legalization or decriminalization, respecting the human embryo from conception. A proper methodology is required to monitoring prevalence and causes of illegal abortion in order to focusing preventive interventions in the vulnerable population.

Perfil lipídico en mujeres embarazadas sanas de tres regiones de Chile / Lipid profile in healthy pregnant women in three regions of Chile

Antecedentes: Los lípidos plasmáticos maternos durante el embarazo pueden influir en el crecimiento fetal, particularmente en pacientes con diabetes gestacional; estos lípidos cambian su concentración plasmática materna a lo largo de la gestación. Objetivo: Calcular tablas y curvas de lípidos normales según edad gestacional en una población de embarazadas chilenas. Método: Se midió el colesterol total (CT), colesterol LDL (LDL-C) triglicéridos (TG), Colesterol-HDL (HDL-C), y ácidos grasos no esterificados (NEFA), en 94 embarazadas sanas y jóvenes (<33 años, edad media de 27,6 +/- 6,2 años), con peso pregestacional normal (Índice de Masa Corporal entre 20 y 24,9 Kg/m2 y medio de 23,3 +/- 2,0 Kg/m2). Las pacientes provenían de: Hospital Parroquial de San Bernardo, Santiago (n=55), Hospital de Talca (n=2); Hospital del Profesor, Santiago (n=18); Hospital Regional de Concepción (n=9) y Hospital Clínico de la Pontificia Universidad Católica de Chile (n=10). Resultados: Calculamos, para cada uno de los cuatro lípidos, las curvas de percentil 50, percentil 90 y percentil 10, en mg/dL y mmol/l. Los NEFA solo fueron expresados en mmol/l. Incluimos las funciones matemáticas de las curvas de regresión polinomial de los cuatro lípidos con el fin que sean fácilmente reproducibles en otros tamaños. Conclusiones: Calculamos las tablas y curvas de lípidos maternos normales a lo largo del embarazo, que sean aplicables a la población de embarazadas chilenas.

Background: In normal human pregnancy, maternal lipids can modify the rate of fetal growth, particularly in pregnancies with Gestational Diabetes Mellitus (GDM). These lipids change continuously their serum concentration in the mother along the pregnancy. Aim: To calculate tables and curves of normal serum lipids, according to gestational age, in healthy Chilean pregnant women. Methods: We measured total cholesterol (CT), LDL-cholesterol (LDL-C), triglycerides (TG), HDL-Cholesterol (HDL-C), and Non-Esterified Fatty Acids (NEFA) in 94 young and healthy pregnant women (< 33 years, mean age 27.6 +/- 6.2 years), with normal pregestational Body Mass Index (BMI, 20.0-24.9 Kg/m2 , mean value= 23.3 +/- 2.0 Kg/m2). The women of the study were patients of 5 hospitals: Hospital Parroquial de San Bernardo, Santiago (n=55), Hospital de Talca (n=2); Hospital del Profesor, Santiago (n=18); Hospital Regional de Concepción (n=9) and Hospital Clínico de la Pontificia Universidad Católica de Chile (n=10). Results: For each one of the lipids, we calculated curves of 50th, 90th and 10th percentiles, both in mg/dL and mmol/L (the NEFA were expressed only in mmol/L). The mathematical functions of the curves of polynomial regression of all lipids were included in the manuscript, in order to facilitate their reproduction. Conclusions: We calculated tables and curves of normal maternal serum lipids in relation to gestational, in order to make these available for use in the care of Chilean pregnant women.

Experiencia de trauma renal abierto en el Servicio de Urgencias Hospital Padre Hurtado / Open renal trauma experience in the emergency unit of Hospital Padre Hurtado

El trauma renal se presenta en el 10 por ciento de los pacientes traumatizados y se clasifica en abierto o cerrado de acuerdo a su mecanismo. El trauma renal abierto alcanza en zonas urbanas entre un 15-20 por ciento del total de traumas renales. Es producido principalmente por armas blancas o de fuego; estas últimas son de alta energía y se asocian a /lesiones de otros órganos. Se presenta nuestra experiencia en traumatismo renal abierto en los últimos 18 meses. Se evaluaron un total de 196 pacientes con traumatismo torácico, abdominal y toracoabdominal ingresados entre Julio de 2009 y Diciembre de 2010. Se identificaron 9 pacientes con diagnóstico de trauma renal abierta con confirmación diagnóstica por imágenes o durante el intraoperatorio. Las edades oscilan entre 16 y 30 años con un promedio de 22,7; 8 de 9 son de sexo masculino. El mecanismo de trauma es en un 55,5 por ciento (5/9) por arma de fuego y en un 44,5 por ciento (4/9) por arma blanca. Se clasificó el trauma renal según American Association for the Surgery of Trauma. Encontrándose que 2/9 (22 por ciento) corresponden a grado ll, 3/9 (33 por ciento) a grado a grado ll,3/9 (33 por ciento) a grado IV y 1/9 (11 por ciento) a grado V. La baja de hematocrito varió entre 1 y 23 por ciento, con un promedio de 11,3 por ciento. Se decidió manejo conservador en 5/9 pacientes: dentro de esto no se consideran las cirugías efectuadas por lesión de órgano no urológico. Un total de 3 pacientes (33,3 por ciento) requirió nefrectomía. Lesiones toracoabdominales asociadas se observaron en 7 de 9 pacientes, siendo las más frecuentes el Bazo (2), Hígado (2), Estómago (2), Diafragma (2) y Colon (2). No hubo muertes en el grupo de estudio en seguimiento de 6 /meses. A pesar de la baja incidencia de trauma renal abierto, se observa un gran número de pacientes considerando otras series nacionales. La anterior, probablemente debido a las características socioculturales del centro hospitalario...

Renal trauma is present in 10 percent of politraumatized patients. It’s classified into opened or closed renal trauma, according to its mechanism. Opened renal trauma in urban areas reaches 15ta 20 percent of all renal traumas. It’s mainly secondary to gunshot wounds or knifes. Gunshot wounds are classified as hi energy trauma and usually are associated to other organ lesions. We present our experience in opened renal trauma in the last 18 months. Retrospective study where 196 patients with thoracic, abdominal and thoraco-abdominal trauma admitted in the emergency room between July 2009 and December 201 0. Nine patients were identified with opened renal trauma, with diagnostic confirmation y imaging study o during surgery. The ages ranged between 16 and 30 years; with an average of 22, 7 years. Eight out of nine patients were males. The mechanism of injury was in 55.5 percent (5/9) produced by gunshot and 44.5 percent (4/9) by knife. The opened renal traumas were classified according to the American Association for the Surgery of Trauma. We found that 2/9 (22 percent) belonged to grade ll. 3/9 (33 percent) to grade lll. 3/9 (33 percent) to grade IV and 1/9 to grade V (11 percent). The drop in hematocrit ranged between 1percent and 23percent, with an average of 11.3 percent. Five out of nine patients were treated conservatively, excluding surgeries because of neurologic¡ organs. Three patients required nephrectomy. Seven out of nine patients presented association with thoraco-abdominat injuries. The most frequent were spleen (2), liver (2), stomach (2), and diaphragm (2), and colon (2). There was no mortality during a six months follow-up. Despite the low incidence of opened renal trauma, we present a large number of patients according to other national reports, probably due to socio-cultural environment of this hospital...

¿Existe un aumento de los nacimientos en Chile en el período 2000-2009?: análisis de los principales indicadores materno-infantiles de la década / Trend in annual live birth in Chile between 2000 and 2009

Objetivo. Describir la tendencia en los nacimientos y los principales indicadores materno-infantiles en Chile desde el año 2000 al 2009. Método. Se realiza un análisis descriptivo de la información obtenida desde el Ministerio de Salud de Chile para el período estudiado. Resultados. Durante el período estudiado nacen aproximadamente 2.400.000 personas, se observa un significativo aumento en su número a partir del año 2004 al 2009 (+9,7 por ciento). Las tasas de mortalidad neonatal precoz, tardía, post neonatal e infantil fueron de 3,86; 1,18; 2,54 y 7,58 por 1000 nacidos vivos durante el año 2009, presentado un porcentaje de disminución de un 13,5; 8,4; 16,2; 13,7 por ciento respectivamente en comparación al año 2000. La mortalidad materna disminuyó en un 13,2 por ciento desde 19,7 a 17,1 por cien mil nacimientos en el mismo período. La prematurez (<37s) incrementa significativamente en un 20,82 por ciento (de 5,96 a 7,2 por ciento). El mayor cambio se observa entre las 32-33 y 34-36 semanas (aumento de un 18 por ciento y 32 por ciento, respectivamente). El porcentaje de nacimientos múltiples (dos) aumento significativamente en un 11 por ciento, desde 1,66 a 1,84 por cien nacimientos. Conclusión. Durante el período estudiado se observa un aumento significativo de los nacimientos totales, del porcentaje de primigestas y de madres sobre 40 años. Se presenta un aumento de la prematurez, del bajo peso al nacer y del porcentaje de embarazos múltiples. Los cambios observados se asocian aun a una mejoría de los indicadores neonatales.

Objective. To describe the trend in annual live birth in Chile between 2000 and 2009, as well as the main descriptive statistics and health indicators associated. Methods. We performed a descriptive analysis form the database provided by the Department of Statistics and Information of the Chilean Ministry of Health. Data of 2.400.000 deliveries were analyzed from 2000 and 2009. We analyzed live births, maternal, fetal, infant mortality, as well as main descriptive characteristics by year. Results. The total of live births in Chile has progressively increased after the year 2005 until 2009 (+ 9.7 percent). The early neonatal, late neonatal, post neonatal mortality and mortality infant were 3.86, 1.18, 2.54 and 7.58 per 1000 live births in 2009, showing a decrease of 13.5; 8.4; 16.2; 13.7 percent respectively compared to 2000. Maternal mortality declined a 13.2 percent from 19.7 to 17.1 x 100.000 births in the same period. Prematurity (<37weeks) increased significantly in a 20.82 percent (5.96 percent to 7.2 percent). The biggest change is observed at late preterm birth 32-33 and 34-36 weeks (increase of 18 percent and 32 percent respectively). The rate of multiple births (two) significantly increased also in a 11 percent, from 1.66 to 1.84 x 100.000 birth. Conclusion. During the study period, a significant increase of total births, the percentage of primipare and mothers over 40 years was observed. It's also shown an increase in prematurity, low birth weight and the percentage of multiple pregnancies. The observed changes are associated with improved neonatal indicators.

Niveles séricos del antígeno prostático específico (PSA) dentro de la campaña de prevención del cáncer de próstata / Serum levels of the prostate-specific antigen (PSA) in the prostate cancer prevention campaign

La determinación del antígeno prostático específico (PSA) forma parte del diagnóstico del cáncer de próstata. Como en condiciones patológicas sus niveles aumentan, es considerado marcador tumoral útil de diagnóstico de cáncer de próstata en forma precoz. Determinamos los niveles séricos de PSA, dentro de la campaña “Semana de la Próstata” organizado por la Cátedra de Urología del Hospital de Clínicas en Octubre 2007. De los 89 pacientes, el 86,5% presentó niveles de PSA entre 0 y 4ng/ml, 10,1% entre 4 y 10 ng/ml y el 3,4% entre 10 y 40 ng/ml respectivamente. Se realizó una distribución por edad y se determinaron las medias de los valores de PSA en los mismos. El 12,4% del grupo E1 (41 a 50 años) con 0,5ng/ml de PSA, el 52,8% del grupo E2 (51 a 60 años) con 7,4ng/ml de PSA, el 28,1% del grupo E3 (61 a 70 años) con 5,2ng/ml de PSA y el 6,7% del grupo E4 (71 a 80 años) con 1,5 ng/ml de PSA. Hallándose valores más elevados de PSA en el grupo E2 y E3, no así en el grupo E4. En relación al tacto rectal (TR) y los valores del PSA, el 31,5%(28) presentaron TR normal con un valor medio de PSA de 3,4. Mientras que el 65,1% (58) presentaban TR patológico con valores medios de PSA de 7,17 en 55 pacientes y sólo 3 pacientes con TR patológico presentaron niveles de PSA por debajo de 2,5 ng/ml. El TR resultó ser la variable con mayor poder de discriminación, con respecto al resultado de PSA en estos pacientes.

The determination of prostate-specific antigen (PSA) is part of the diagnosis of prostate cancer.It is considered an useful tumor marker for early diagnosis of porostate cancer because in pathological conditions its levels increase.Serum levels of PSA were determined within the campaign "Prostate Week" organized by the Department of Urology of the Hospital de Clínicas in October 2007.;Of the 89 patients, 86.5% had PSA levels between 0 and 4 ng/ml, 10.1% between 4 and 10 ng/ml and 3.4% between 10 and 40 ng/ml respectively. An age distribution was made and the mean of PSA values were determined in each group. Twelve point four percent of group E1 (41 to 50 years) had 0.5 ng/ml of PSA, 52.8% of group E2 (51 to 60 years) 7.4 ng/ml PSA, 28.1% of E3 group (61 to 70 years) 5.2 ng/ ml of PSA and 6.7% of the E4 group (71 to 80 years) had 1.5 ng/ml of PSA.The highest values of PSA were found in E2 and E3 groups, but not in the E4 group. In relation to digital rectal examination (DRE) and PSA values, 31.5% (28) showed normal DRE with a mean value of PSA of 3.4 while 65.1% (58) had pathological DRE with mean values of PSA of 7.17 in 55 patients and only 3 patients had pathological TR with PSA levels below 2.5 ng/ml. The DRE was the variable with the greatest ability to discriminate in relation to the results of PSA in these patients.

Breastfeeding and early infection in the aetiology of childhood leukaemia in Down syndrome.

BACKGROUND: For a child to develop acute leukaemia (AL), environmental exposure may not be sufficient: interaction with a susceptibility factor to the disease, such as Down syndrome (DS), may also be necessary. We assessed whether breastfeeding and early infection were associated with the risk of developing AL in children with DS. METHODS: Children with DS in Mexico City, and either with or without AL, were the cases (N=57) and controls (N=218), respectively. Population was divided in children with AL and with acute lymphoblastic leukaemia (ALL) and also in children < or = 6 and >6 years old. RESULTS: Breastfeeding and early infections showed moderate (but not significant) association for AL, whereas hospitalisation by infection during the first year of life increased the risk: odds ratios (confidence interval 95%) were 0.84 (0.43-1.61), 1.70 (0.82-3.52); and 3.57 (1.59-8.05), respectively. A similar result was obtained when only ALL was analysed. CONCLUSION: We found that breastfeeding was a protective factor for developing AL and ALL, and during the first year of life, infections requiring hospitalisation were related to a risk for developing the disease in those children with DS >6 years of age. These data do not support the Greaves's hypothesis of early infection being protective for developing ALL.

[Right ventricular assistance with a centrifugal pump. Report of two cases]. / Asistencia ventricular derecha con bomba centrífuga.

Acute right ventricular failure after cardiac surgery occurring in the first postoperative hours is associated with a bad prognosis. We have used a centrifugal pump either for left, right or biventricular assistance. However, the use of this device for pure right ventricular assistance is rare. We report a 30 year-old female undergoing a mitral valve replacement and a 42 year-old male undergoing a cardiac transplantation, who had a successful right ventricular assistance using a centrifugal pump, due to a failing right ventricle, as the result of insufficient myocardial protection and severe pulmonary hypertension. These two cases illustrate the value of the mechanical ventricular assist device for the treatment of right heart failure.

BCR-ABL, ETV6-RUNX1 and E2A-PBX1: prevalence of the most common acute lymphoblastic leukemia fusion genes in Mexican patients.

This study was conducted to determine the frequency of the most common fusion genes in Mexican pediatric patients with acute lymphoblastic leukemia (ALL). Molecular analysis using RT-PCR was carried out in 53-blood samples: 52 patients with de novo ALL and one with relapsed ALL. The ETV6-RUNX1 fusion was found in 7 cases (13.5%), BCR-ABL fusion was detected in 2 cases (3.8%), and 6 patients (11.5%) expressed the chimeric gene E2A-PBX1. The prevalence of E2A-PBX1 is one of the highest that has been described thus far in childhood ALL. Furthermore, we detected both the BCR-ABL, and E2A-PBX1 fusion in the relapsed patient. With regards to the immunophenotype, ETV6-RUNX1 was expressed in both pre-B and T-cell cases, while the presence of E2A-PBX1 and BCR-ABL was associated with the pre-B ALL phenotype. The prevalence of E2A-PBX1 in Mexican pediatric cases supports the existence of ethnic differences in the frequency of molecular markers of ALL.

Asistencia ventricular derecha con bomba centrífuga / Right ventricular assistance with a centrifugal pump. Report of two cases

Acute right ventricular failure after cardiac surgery occurring in the first postoperative hours is associated with a bad prognosis. We have used a centrifugal pump either for ¡eft, right or biventricular assistance. However, the use of this device for pure right ventricular assistance is rare. We report a 30 year-old female undergoing a mitral valve replacement and a 42 year-old male undergoing a cardiac transplantation, who had a successful right ventricular assistance using a centrifugal pump, due to a failing right ventricle, as the result of insufficient myocardial protection and severe pulmonary hypertension. These two cases illustrate the value of the mechanical ventricular assist device for the treatment of right heart failure.