Abstract Elevation of branched-chain amino acids (BCAAs) in biological fluids indicates a deficiency in the branched-chain ketoacid dehydrogenase complex, which causes maple syrup urine disease (MSUD). Detection of increased levels of alloisoleucine confirms the diagnosis, while routine monitoring of leucine concentration is crucial for preventing metabolic decompensation and neurological dysfunction. In the metabolic center at Universidad de Chile, we have confirmed and monitored more than fifty MSUD patients in the last 20 years. Most diagnoses were made by clinical and sibling diagnosis, as MSUD is not included in the Chilean national newborn screening program. Shortening diagnosis time has a fundamental impact on the outcome of patients, therefore we focused on implementing detection of BCAAs in dried blood spot by liquid chromatography mass spectrometry (LC-MSMS) for disease confirmation as well as for biochemical monitoring. Retrospective analysis of samples from 9 diagnosed MSUD patients were performed; BCAAs values were determined via MSMS and LC-MSMS conducted in parallel. Leucine and alloisoleucine levels were positively correlated with patient’s diagnosis age. Alloisoleucine was significatively elevated as early as 24 hr after birth. A predictable variation in BCAAs levels after nutritional intervention among diagnosed MSUD patients was found.

Abstract Since 1992, Chile has had a Newborn Screening Program for Phenylketonuria (PKU), which currently has an incidence of 1:18,916 newborns. The objective of the current study was to describe the 2020 follow up of the Chilean PKU cohort. The variables analyzed were: nutritional status, dietary compliance and neuropsychological functioning. We conducted a descriptive cross-sectional statistical analysis. The 271 subjects with PKU had an average age of diagnosis of 17±8 days and a phenylalanine (Phe) level of 1122±546 umol/L. Approximately 80% of protein requirement came from a protein substitute. For those <18 years of age, 80% had good dietary compliance with Phe level between 120-360 umol/L and those >18 years had a median of 522 umol/L (95%CI 468 - 636). Forty-four percent of the active PKU cohort had overweight/obesity. Eighty-five percent of the cohort >4 years of age had a normal intelligence quotient (IQ) (score 80-120). We observed a negative correlation (p <0.001; 95% CI: - 0.5, -0.2) between IQ score and Phe level. The Chilean protocol and protein substitute subsidy for life, together with the follow-up and continuous education carried out by the clinical team has encouraged compliance.

Introduction: Even today the aesthetic impairment remains a problem when assessing corporal damage, as it has not been established which are the elements to be considered and their quantification, thus assuming a subjective component by both the individual as the expert in charge of the assessment. Materials and methods: A literature review and analysis of the texts and major scales found is carried out. An analysis of methods and scales used in the assessment of aesthetic impairment is carried out in order to propose a new systematic assessment of aesthetic damage, minimizing subjectivity and assessing the different parts of the aesthetic damage. Results: A new scale for assessing the aesthetic damage is proposed; taking into account 3 main areas: changes in the skin (scars and burns), amputations and loss of substance, and disturbances of the dynamic (motion, posture, expression, and speech), with reference to the Real Decreto Legislativo 8/2004. Discussion: The preparation of this protocol has been relied on the scale of Table VI contained in the Real Decreto Legislativo 8/2004, which states that age, sex and profession should not be taken into account, and that the assessment of aesthetic impairment is done in a separate section of functional impairment. A valid scale should include all aspects pertaining to the aesthetic impairment, both static and dynamic.

Introducción: el perjuicio estético sigue siendo hoy en día un problema a la hora de la valoración del daño corporal, ya que no se establecen cuáles son los elementos a considerar ni su cuantificación, asumiendo así un componente subjetivo tanto por parte del individuo que lo sufre como del perito encargado de la valoración. Material y métodos: se lleva a cabo una revisión bibliográfica. Se realiza un análisis de los textos y baremos más importantes empleados en la valoración del perjuicio estético, para posteriormente proponer una nueva sistemática de valoración del daño estético, que intente disminuir al máximo la subjetividad y valorar las diferentes partes del perjuicio estético. Resultados: se propone un nuevo baremo para la valoración del daño estético, en el cual se tienen en cuenta tres aspectos principales: alteraciones en la piel (cicatrices y quemaduras), amputaciones y pérdidas de sustancia, y alteraciones dinámicas (marcha, postura, expresión y habla), tomando como referencia el baremo del Real Decreto Legislativo 8/2004. Discusión: la elaboración del presente protocolo se ha basado en el baremo de la Tabla VI recogida en el Real Decreto Legislativo 8/2004, en el que se establece que edad, sexo y profesión no deben tenerse en cuenta, y en el que la valoración del daño estético se hace en un apartado independiente del daño funcional. Un baremo válido debe incluir todos los aspectos que atañen al perjuicio estético, tanto estático como dinámico.

The availability of a useful tool for simple and timely detection of the most important virulent varieties of Escherichia coli is indispensable. To this end, bacterial DNA pools which had previously been categorized were obtained from isolated colonies as well as selected in terms of utilized phenotype; the pools were assessed by two PCR Multiplex for the detection of virulent E. coli eaeA, bfpA, stx1, stx2, ipaH, ST, LT, and aatA genes, with the 16S gene used as DNA control. The system was validated with 66 fecal samples and 44 wastewater samples. At least one positive isolate was detected by a virulent gene among the 20 that were screened. The analysis of fecal samples from children younger than 6 years of age detected frequencies of 25% LT positive strains, 8.3% eae, 8.3% bfpA, 16.7% ipaH, as well as 12.5 % aatA and ST. On the other hand, wastewater samples revealed frequencies of 25.7% eaeA positive, 30.3% stx1, 15.1% LT and 19.7% aatA. This study is an initial step toward carrying out epidemiological field research that will reveal the presence of these bacterial varieties.

Background. The determination of prognostic factors in acute lymphoblastic leukaemia (ALL) is increasingly important in establishing a correct treatment. We analyse the overall survival (OS), event free survival (EFS) and prognostic factors in our 16 years experience of treating acute lymphoblastic leukaemia. Methods. We performed univariate and multivariate analyses of the prognostic factors we considered most significant in our serie of patients Results. From January 1989 to December 2005, 50 cases of ALL were reported in 58 patients with LA. We analysed a subgroup of 41 patients with LLA as they were included in standard protocols. In this group the EFS was 78% and OS 87.8%. Inmunophenotype is a predictor of prognosis when we compare Common with Others, with a HR of 13.82 (CI95%: 1.019-166.008) p<0.05; Protocol of Treatment of the Paediatric Haematology Oncology Society (SHOP) (94-99/89) with HR of 0.065 (CI95%: 0.005-0.008) p<0.02; and Age (120 months/12-120 months) with a HR of 13.82 (CI95%: 0.58-329.48) p=0.1 Conclusions. The OS in our series is similar to that reported in the literature. Inmunophenotype and protocols of treatment are the most significant prognostic factors.

Fundamento. El conocimiento de factores que se comportan como pronósticos en la leucemia linfoblástica aguda (LLA) es cada vez más importante para establecer una estrategia de tratamiento correcta. Se analiza la supervivencia global (SG), supervivencia libre de eventos (SLE) y los factores pronósticos en 16 años de experiencia en nuestra comunidad. Material y métodos. Estudio descriptivo retrospectivo en el que se incluyen los pacientes diagnosticados de leucemia aguda (LA) en ese periodo de tiempo. Análisis uni y multivariante de aquellos factores que hemos considerado relevantes en nuestra serie aplicando el paquete estadístico SPSS para Windows versión 12. Resultados. En el periodo comprendido entre enero de 1989 y diciembre de 2005 se diagnosticaron 58 pacientes de LA, 50 de ellos tipo linfoblástica aguda (LLA). Se analiza un subgrupo de 41 pacientes de forma más exhaustiva por ser el tipo de leucemia más frecuente y por haber estado incluidos en protocolos bien establecidos. En este grupo la SLE fue del 78% y la SG del 87,8%. Las variables multivariante predictoras en nuestra serie fueron: el inmunofenotipo (B-Común/Otras) con un HR de 13,82 (IC95%: 1.019-166.008) p<0,05, el Protocolo de la Sociedad de Hemato-Oncología Pediátrica (SHOP) (94-99/89) con HR de 0,065 (IC95%: 0,005-0,808) p <0,02 y la edad (120meses/12-120meses) con un HR de 13,82 (IC95%: 0,58-329,48) p =0,1. Conclusiones. En nuestra serie la tasa de supervivencia es superponible a la de otros grupos colaborativos. El inmunofenotipo y el protocolo vigente se comportan como factores que influyen significativamente en la evolución de los pacientes.

A proportion of colorectal cancers shows some type of genetic predisposition that can be recognised in clinical practice. From the classical dominant inheritance pattern of familial adenomatous polyposis or hereditary non-polyposis colorectal cancer, through the recessive transmission of the MYH associated polyposis, to the new syndromes of the "serrated pathway" or low-penetrance alleles, the discovery of new genes and a deeper understanding of the mechanisms of action of already-known ones are enabling us to understand new aspects of the colorectal carcinogenesis. This is throwing a new light on some of the observed familial aggregation patterns which had remained unexplained.

Una proporción de los cánceres colorrectales presentan algún tipo de predisposición genética que es posible reconocer en la práctica clínica. Desde los clásicos patrones hereditarios dominantes de la poliposis adenomatosa familiar o el cáncer de colon hereditario no asociado a poliposis, pasando por la transmisión recesiva mostrada por la poliposis asociada al gen MYH, hasta llegar a los novedosos síndromes de la "vía serrada" o los alelos de baja penetrancia, el descubrimiento de nuevos genes y el mejor conocimiento de los mecanismos de acción de los ya conocidos, están permitiendo comprender nuevos aspectos de la carcinogénesis colorrectal que arrojan nueva luz sobre algunas de las observaciones de patrones de agregación familiar al cáncer de colon que permanecían inexplicadas.

Fanconi’s anaemia (FA) is an autosomal recessive syndrome associated with chromosomal instability, and hypersensitivity of the DNA to claustrogenic agents. Clinically it presents a progressive marrow insufficiency, different congenital anomalies and an predisposition to malignancy. Eight complementation groups have been defined and the genes corresponding to six of them have been cloned. Recent advances in molecular biology have made it possible to investigate the relationship between the FA genotype and the nature and severity of the clinical phenotype. The treatment of FA is also the object of intense research that is currently centred on the transplant of hematopoyetic progenitors, especially successful in cases of an HLA-identical brother or sister donor, and in gene therapy, which is still in the phase of clinical research.

La anemia de Fanconi (AF) es un síndrome de inestabilidad cromosómica, autosómico recesivo, caracterizado por una hipersensibilidad del DNA a agentes clastogénicos. Clínicamente presenta una insuficiencia medular progresiva, diversas anomalías congénitas e incremento en la predisposición a padecer enfermedades malignas. Se han definido ocho grupos de complementación y se han clonado los genes correspondientes a seis de ellos. Recientes avances en biología molecular han permitido investigar la relación entre el genotipo de AF y la naturaleza y severidad del fenotipo clínico. El tratamiento de la AF es también objeto de una intensa investigación que actualmente se centra en el trasplante de progenitores hematopoyéticos, con éxito especialmente en caso de donante hermano HLA-idéntico, y en la terapia génica todavía en fase de investigación clínica.