Julián Llera

Fanconi anemia is associated with a defect in the BRCA2 partner PALB2

The Fanconi anemia and BRCA networks are considered interconnected, as BRCA2 gene defects have been discovered in individuals with Fanconi anemia subtype D1. Here we show that a defect in the BRCA2-interacting protein PALB2 is associated with Fanconi anemia in an individual with a new subtype. PALB2-deficient cells showed hypersensitivity to cross-linking agents and lacked chromatin-bound BRCA2; these defects were corrected upon ectopic expression of PALB2 or by spontaneous reversion.

Impacto da separação sobre a qualidade de vida de crianças em idade escolar

OBJECTIVE To assess psychosocial quality of life in school-age children of divorced parents. METHODS A cross-sectional survey was conducted at the pediatric outpatient clinic of a community hospital. Children 5 to 12 years old from married families and divorced families were included. Child quality of life was assessed through maternal reports using a Child Health Questionnaire-Parent Form 50. A multiple linear regression model was constructed including clinically relevant variables significant on univariate analysis (beta coefficient and 95%CI). RESULTS Three hundred and thirty families were invited to participate and 313 completed the questionnaire. Univariate analysis showed that quality of life was significantly associated with parental separation, child sex, time spent with the father, standard of living, and maternal education. In a multiple linear regression model, quality of life scores decreased in boys -4.5 (-6.8 to -2.3) and increased for time spent with the father 0.09 (0.01 to 0.2). In divorced families, multiple linear regression showed that quality of life scores increased when parents had separated by mutual agreement 6.1 (2.7 to 9.4), when the mother had university level education 5.9 (1.7 to 10.1) and for each year elapsed since separation 0.6 (0.2 to 1.1), whereas scores decreased in boys -5.4 (-9.5 to -1.3) and for each one-year increment of maternal age -0.4 (-0.7 to -0.05). CONCLUSION Childrens psychosocial quality of life was affected by divorce. The Child Health Questionnaire can be useful to detect a decline in the psychosocial quality of life.OBJECTIVE: To assess psychosocial quality of life in school-age children of divorced parents. METHODS: A cross-sectional survey was conducted at the pediatric outpatient clinic of a community hospital. Children 5 to 12 years old from married families and divorced families were included. Child quality of life was assessed through maternal reports using a Child Health Questionnaire - Parent Form 50. A multiple linear regression model was constructed including clinically relevant variables significant on univariate analysis (beta coefficient and 95%CI). RESULTS: Three hundred and thirty families were invited to participate and 313 completed the questionnaire. Univariate analysis showed that quality of life was significantly associated with parental separation, child sex, time spent with the father, standard of living, and maternal education. In a multiple linear regression model, quality of life scores decreased in boys -4.5 (-6.8 to -2.3) and increased for time spent with the father 0.09 (0.01 to 0.2). In divorced families, multiple linear regression showed that quality of life scores increased when parents had separated by mutual agreement 6.1 (2.7 to 9.4), when the mother had university level education 5.9 (1.7 to 10.1) and for each year elapsed since separation 0.6 (0.2 to 1.1), whereas scores decreased in boys -5.4 (-9.5 to -1.3) and for each one-year increment of maternal age -0.4 (-0.7 to -0.05). CONCLUSION: Childrens psychosocial quality of life was affected by divorce. The Child Health Questionnaire can be useful to detect a decline in the psychosocial quality of life.

Benign Transient Hyperphosphatasemia of Infancy. A Common Benign Scenario, a Big Concern for a Pediatrician

ABSTRACT Benign transient hyperphosphatasemia of infancy (BTH) is a condition characterized by disproportionately high levels of serum alkaline phosphatase (SAP). We report 4 cases of healthy patients with an elevated SAP. The mean age of the patients was 33 (14-52) months, with three females and one male. All children had a normal physical exam and anthropometric measures. The maximum values of serum alkaline phosphatase recorded in the 4 patients were: 11900, 6500, 9700 and 7600 UI/L respectively, with the rest of the laboratory exams and diagnostic images being normal. The clinical course of all the patients was favourable and no patient presented signs of symptoms of illness. Blood was drawn on 6 occasions in patients 1 and 5 occasions in the rest. Benign transient hyperphosphatasemia of infancy was diagnosed. It is important to know the characteristics of this condition to order the necessary amount of complementary studies.

Análisis de registros de tensión arterial en pacientes de 3-20 años por pediatras en la historia clínica electrónica

INTRODUCTION: Blood pressure measurement (BPM) is a recommended practice at least once a year for all of healthy children starting from 3 years old and before that age in population at risk. Pediatricians fulfilling of this recommendation is irregular. Objective. Identify the prevalence of records of BPM in a pediatric electronic health record (EHR) in patients from 3 to 20 years of age and the prevalence of records of hypertension (HBP) and prehypertension (preHBP) according to sex, age and percentile of height. POPULATION, MATERIAL AND METHODS: A cross-sectional and analytical study was conducted. 8140 patients from 3 to 20 years of age seen by their primary care physician at least in one opportunity between January and June 2005 were evaluated. Hypertension, prehypertension and normal BP was defined based on the recommendation published in Pediatrics 2004 Aug; 114: 555-76. RESULTS: 2.723 of the 8.140 patients had BP registered in the EHR (33.4%), 76% of the records were of normal BP, 17% of preHBP and 7% of HBP. The percentage of preHBP was significantly higher in males (21.7% vs. 13.4%) OR: 1.6 (IC 95% 1.3-1.9), but not in HBP (7.4% vs. 6.8%). 50% of the pediatricians registered 9% or less of their patients BP. CONCLUSIONS: The prevalence of BPM was a third; there is a need of generating actions that stimulate this practice.INTRODUCTION Blood pressure measurement (BPM) is a recommended practice at least once a year for all of healthy children starting from 3 years old and before that age in population at risk. Pediatricians fulfilling of this recommendation is irregular. Objective. Identify the prevalence of records of BPM in a pediatric electronic health record (EHR) in patients from 3 to 20 years of age and the prevalence of records of hypertension (HBP) and prehypertension (preHBP) according to sex, age and percentile of height. POPULATION, MATERIAL AND METHODS A cross-sectional and analytical study was conducted. 8140 patients from 3 to 20 years of age seen by their primary care physician at least in one opportunity between January and June 2005 were evaluated. Hypertension, prehypertension and normal BP was defined based on the recommendation published in Pediatrics 2004 Aug; 114: 555-76. RESULTS 2.723 of the 8.140 patients had BP registered in the EHR (33.4%), 76% of the records were of normal BP, 17% of preHBP and 7% of HBP. The percentage of preHBP was significantly higher in males (21.7% vs. 13.4%) OR: 1.6 (IC 95% 1.3-1.9), but not in HBP (7.4% vs. 6.8%). 50% of the pediatricians registered 9% or less of their patients BP. CONCLUSIONS The prevalence of BPM was a third; there is a need of generating actions that stimulate this practice.

Utilización de recursos y costos médicos directos de las enfermedades crónicas en una población pediátrica argentina

OBJECTIVES To evaluate the distribution and analyze the use of resources and direct medical costs in children and adolescents diagnosed with a chronic disease and compare them with healthy children of the same age from a health insurer perspective. METHODS We analyzed the resources used and direct medical costs generated during 2008 in 21-year-old patients or younger affiliated to a health plan of community hospital in Buenos Aires, Argentina. We compared the outcomes of patients with at least one chronic disease as defined by Stein with healthy patients from a health insurer perspective with a one year time horizon. The costs were expressed in U.S. dollars for 2008. RESULTS We identified 1885 children and adolescents with chronic illness, accounting for 6.7% of the total pediatric population studied. This group had a greater number and length of hospitalization, greater use of medications, practices and medical consultations than the healthy pediatric population. The mean total annual costs were US

[Estimated prevalence of musculoskeletal pain in children, who attend a community hospital].

501 (95% CI: 419-583) and US

Prevalencia de estereotipias en pacientes sin enfermedades crónicas

212 (95% CI: 188-236), respectively (p < 0.001). Overweight, obesity and asthma, even with relatively low or moderate costs per patient, generated almost 39% of the total costs of chronic diseases due to its high prevalence. CONCLUSION The pediatric population with diagnosis of at least one chronic disease had significantly greater utilization of medical services and increased costs in all areas studied. It is also important to recognize that diseases of low or moderate cost per patient, but highly prevalent, generate the largest share of expenditure of chronic diseases in the population.

Correlation between the educational environment and burn-out syndrome in residency programs at a university hospital

INTRODUCTION Musculoskeletal pain is a common symptom in childhood. It is estimated that 5 to 19% of healthy children experience musculoskeletal pain. AIMS To estimate the prevalence of musculoskeletal pain and to describe epidemiological characteristics in children 3 to 12 years of age, who attend a community hospital. POPULATION, MATERIAL AND METHODS This is an observational transversal study. A self-administered questionnaire was completed in the waiting room of the Pediatric ambulatory area. Children with chronic diseases were excluded. Statistical tests used included chi(2) test, Mc Nemar and a logistic regression model analysis. RESULTS A total of 240 questionnaires were distributed and 229 were returned. Median age of children was 6 years and 36 (25-50) years in their mothers. Fifty four percent were girls. Pain was present in 21.4% in the last year, and 19.2% in the past 3 months, both groups were concordant (Mc Nemar test not significant). Associated factors with pain in the last year were: age and family history of current pain and during childhood (logistic regression model). No relation was found with sex of the child, mother age, mono-parental family, siblings or stress family factors in the last year. The musculoskeletal pain was localized in: lower limbs (66%), muscles (52%), joints (38%) and was bilateral in 33%. In 40% of children the pain duration was transient (minutes), 55% developed pain, at least, once a month and in 51% was related to exercise. Limitation of daily living activities due to pain was seen in 16%. The pain resolved spontaneously in 50%. Pediatricians were consulted in 63% of the cases and 8% consulted in Orthopedics. When comparing the pain pattern in 2 groups of children (< and > 6 years), we found that older children tended to present pain more than once a month and related to exercise. CONCLUSIONS The prevalence of musculoskeletal pain was 21.4%. Pain was associated to child age and family history of musculoskeletal pain. Pain was referred to lower limbs (mainly muscles), periodic (more than once a month) and related to exercise.

Evaluación del impacto del diagnóstico precoz de las cardiopatías congénitas

Introduccion: Las estereotipias han sido descritas en ninos con trastornos del desarrollo pero su prevalencia y caracteristicas en ninos con desarrollo madurativo normal no es conocida. Objetivo: Estimar la prevalencia de estereotipias en ninos sin enfermedades cronicas y describir sus caracteristicas clinicas y epidemiologicas Pacientes y Metodos: Estudio de corte transversal. Se aplico una encuesta a madres de ninos recien nacidos hasta ninos de 12 anos que concurrieron a los consultorios externos con muestreo consecutivo y no aleatorizado. La encuesta fue analizada previamente en un subgrupo de madres. Resultados: Se completaron 406 encuestas, en el 57% se refirieron estereotipias y las mas frecuentes fueron chuparse los dedos (21,8%) y comerse las unas (20%). El analisis multivariado identifico mayor probabilidad de presentar estereotipias en ninos con antecedentes de esterotipia en los padres, situaciones de estres y madres mayores de 35 anos. Conclusion: Las estereotipias tienen una elevada prevalencia en los ninos y son mas frecuentes en ninos con antecedentes familiares de estereotipias, situaciones de estres y en ninos con madres de mayor edad.