Consultas de demanda espontánea sobre trastornos del desarrollo en el Hospital Garrahan / Spontaneous consultations for developmental disorders at Garrahan Hospital

Introducción: Los trastornos del desarrollo (TD) constituyen un motivo de consulta muy frecuente en la práctica pediátrica. El Hospital Garrahan recibe por demanda espontánea al servicio de Mediano Riesgo (MR) consultas de cuidadores con preocupaciones sobre el desarrollo de los niños, niñas y adolescentes (NNyA). Allí son valorados por pediatras clínicos, quienes realizan la interconsulta al servicio de Clínicas Interdisciplinarias del Neurodesarrollo (CIND) según necesidad (representan el 10% del total de consultas en MR). El objetivo del trabajo es comparar las características de los pacientes de MR que fueron consultados al área de Maduración de CIND durante el bimestre marzo/abril de 2016, 2021 y 2022. Materiales y métodos: estudio retrospectivo, observacional y comparativo. Se revisaron las historias clínicas analizando las siguientes variables: edad, procedencia, contar con pediatra de cabecera, cobertura de salud, motivo de consulta y sospecha diagnóstica. Resultados: La cantidad de consultas aumentó por encima del 20%, con un descenso en la mediana de edad de alrededor de un año. Aproximadamente el 70% de los pacientes procedían del conurbano en los tres períodos. Observamos un descenso respecto al número de NNyA con seguimiento pediátrico y cobertura social. El lenguaje y la conducta fueron los motivos más frecuentes de consulta y la mayor sospecha diagnóstica fue el Trastorno del Espectro Autista (TEA). Conclusiones: Los datos observados pueden relacionarse con el impacto de la pandemia así como también con las condiciones socio-económicas de los últimos cinco años, con un mayor conocimiento acerca del desarrollo y un probable aumento de la prevalencia de los TD (AU)

Introduction: Developmental disorders (DD) are a frequent reason for consultation in pediatric practice. The Garrahan Hospital receives spontaneous consultations at the department of Intermediate Risk (IR) from caregivers with concerns about the development of children and adolescents. At the IR department, children and adolescents are evaluated by clinical pediatricians, who consult with specialists at the Interdisciplinary Neurodevelopmental Clinic (INDC) as needed (accounting for 10% of the total number of consultations at the IR department). The aim of this study was to compare the characteristics of IR patients who were consulted at the INDC during the bimonthly period March/April 2016, 2021, and 2022. Materials and methods: a retrospective, observational, and comparative study was conducted. Medical records were reviewed analyzing the following variables: age, provenance, having a primary care pediatrician, healthcare insurance, reason for consultation, and diagnostic suspicion. Results: The number of consultations increased by over 20%, with a decrease in median age of around one year. Approximately 70% of the patients came from Greater Buenos Aires in the three periods. A decrease in the number of children and adolescents with pediatric follow-up and a social health insurance was observed. Language and behavior disorders were the most frequent reasons for consultation and autism spectrum disorder (ASD) was most often suspected. Conclusions: The observed data may be related to the impact of the pandemic as well as socio-economic conditions over the last five years, together with increased knowledge about development and a probable increase in the prevalence of ASD (AU)

Evaluación funcional del neurodesarrollo a los 24-30 meses de edad, de niños que requirieron terapias complejas durante el período neonatal / Functional assessment of neurodevelopment at 24-30 months of life of children requiring complex interventions in the neonatal period

El objetivo de este trabajo fue la evaluación funcional del neurodesarrollo de niños que requirieron terapias complejas neonatales entre los 24 y 30 meses de vida. Se incluyeron 104 pacientes evaluados en el Servicio de Clínicas Interdisciplinarias del Neurodesarrollo del Hospital de Pediatría Juan P. Garrahan, mediante pruebas estandarizadas; cuestionarios auto administrados y datos extraídos del interrogatorio, el examen físico y la historia clínica. A partir de los mismos los pacientes fueron agrupados según el grado de compromiso de su funcionalidad en dos grupos: el primero sin compromiso o compromiso leve y el segundo con compromiso moderado o severo. La evaluación funcional intenta desde una perspectiva biopsicosocial evaluar las habilidades, las dificultades y las características del entorno, que pueden ser tanto facilitadores como barreras para el desarrollo de la persona. De esta manera, permite un abordaje holístico del paciente y muestra como gran fortaleza frente a los diagnósticos categórico y etiológico, la adecuación de los sistemas de apoyos necesarios para cada paciente particular. En concordancia con la bibliografía sobre el riesgo biológico aumentado de esta población, el 44.2% de los niños de la muestra se encontraron dentro del grupo con compromiso funcional moderado/severo. En el análisis univariado las variables que presentaron asociación significativa con el grado de severidad del funcionamiento fueron la prematurez extrema, la displasia broncopulmonar, las lesiones en las ecografías cerebrales neonatales, internaciones neonatales prolongadas y los síndromes genéticos. Entre los factores medio-ambientales, se encontró asociación con progenitor solo y necesidad básicas insatisfechas (AU)

The aim of this study was the functional assessment of the neurodevelopment of children who require complex neonatal interventions between 24 and 30 months of life. Overall, 104 patients were evaluated at the Department of Interdisciplinary Clinics of Neurodevelopment at Hospital de Pediatría Juan P. Garrahan, with standardized tests, self-administered questionnaires and data gleaned from the interview, physical examination, and clinical records. Based on these data, the patients were divided into two groups according to the degree of functional involvement: a first group without or with mild functional compromise and a second group with moderate or severe compromise. From a biopsychosocial perspective, the purpose of functional assessment is the evaluation of skills, difficulties, and environmental characteristics that may be either facilitators or barriers to personal development. Thereby the assessment allows for a holistic approach of the patient and, unlike categorical and etiologic diagnosis, may lead to the adequate selection of the necessary support systems for each individual patient. In agreement with the literature on the increased biological risk in this population, 44.2% of the children in this sample were in the moderate/severe functional compromise group. In univariate analysis, the variables that were statistically significantly associated with degree of severity of function were extreme prematurity, bronchopulmonary dysplasia, lesion on neonatal ultrasonography, prolonged neonatal hospitalization, and genetic syndromes. Among environmental factors a significant association was found with a single parent and unsatisfied basic needs (AU)

Estudio de riesgo de recurrencia de trastorno del espectro autista (TEA) en hermanos de niños con diagnóstico TEA / Study on recurrence risk of autism spectrum disorders (ASD) in siblings of children diagnosed with ASD

El trastorno del espectro autista (TEA) es un trastorno del desarrollo, común de la niñez, con una fuerte predisposición genética y alta heredabilidad. El riesgo de recurrencia en hermanos oscila entre 10-20% y en caso de familias con dos o más niños afectados el riesgo de recurrencia aumenta hasta un 35%. Dentro de las pruebas complementarias para el diagnóstico, el gold standard es la escala ADOS, existe además una prueba de pesquisa, el M-CHAT. Objetivo: evaluar riesgo de recurrencia de TEA en hermanos menores de niños con diagnóstico de TEA. Materiales y Métodos: se realizó un estudio de tipo transversal, observacional y descriptivo. Fueron estudiados niños entre 18-36 meses, hermanos de pacientes con diagnóstico de TEA. La evaluación del desarrollo se realizó utilizando: Escalas CAT/CLAMS, M-CHAT y ADOS 2. Resultados: se estudiaron 39 hermanos. 25 fueron varones y 14 fueron mujeres. Se identificaron 5 niños con diagnóstico de TEA, por lo que el riesgo de recurrencia en la población estudiada fue de 13%, con una relación varón/mujer de 4/1. Del resto de la población estudiada, 13% reunieron criterios para fenotipo ampliado del autismo (Broader Autism Phenotype ­BAP­ en su sigla en inglés), 31% presentaron retraso del lenguaje(RL) y 7%retraso global del desarrollo (RGD). Solo el 36% presentó desarrollo típico. Conclusión: Los hermanos de niños afectados representan un grupo de riesgo para problemas del desarrollo, que debe ser tenido en cuenta por los profesionales de la salud que siguen longitudinalmente a niños con diagnóstico confirmado de TEA (AU)

Autism spectrum disorder (ASD) is a developmental disorder that is common in childhood with a strong genetic predisposition and high heritability. The risk of recurrence in siblings is found to be between 10-20% and in families with two or more affected children recurrence risk is as high as 35%. Among the complementary diagnostic tests, the gold standard is the ADOS scale, and additionally the M-CHAT screening test. Objective: To evaluate the recurrence risk of ASD in younger siblings of children diagnosed with ASD. Material and Methods: A cross-sectional, observational, descriptive study was conducted. Children between 18- 36 months of age, siblings of children diagnosed with ASD were studied. Development was assessed using the CAT/CLAMS, MCHAT, and ADOS 2 scales. Results: 39 siblings were studied; 25 were male and 14 female. Five children with ASD were identified, accounting for a recurrence risk of 13% in the study population and a male/female ratio of 4/1. Of the remaining children, 13% met the criteria for the broader autism phenotype (BAP), 31% had language delay (LD), and 7% global developmental delay (GDD). Only 36% had normal development. Conclusion: Siblings of affected children are at risk for developmental disorders that should be taken into account by health professionals that ongitudinally follow children with a confirmed diagnosis of ASD (AU)

Rhombohedral R3c to orthorhombic Pnma phase transition induced by Y-doping in BiFeO3.

In this work we study, by means of ab initio calculations, the structural, electronic and magnetic properties of Y-doped BiFeO3 compounds. We determine that there is a morphotropic phase boundary at an yttrium concentration of [Formula: see text], where the structure changes from R3c to Pnma. This structural transition is driven by the chemical pressure induced by the dopant. By analyzing the evolution of the oxygen octahedral tilts we find an enhanced antiferrodistortive distortion when increasing the Y-doping, together with a reduction of the ferroelectric distorsion, that gives rise to a smaller value of the electric polarization. These cooperative effects should lead to a larger canting of the Fe magnetic moments and to a larger ferromagnetic response in the R3c phase, as it is observed in the experiments.

An experimental limit on the charge of antihydrogen.

The properties of antihydrogen are expected to be identical to those of hydrogen, and any differences would constitute a profound challenge to the fundamental theories of physics. The most commonly discussed antiatom-based tests of these theories are searches for antihydrogen-hydrogen spectral differences (tests of CPT (charge-parity-time) invariance) or gravitational differences (tests of the weak equivalence principle). Here we, the ALPHA Collaboration, report a different and somewhat unusual test of CPT and of quantum anomaly cancellation. A retrospective analysis of the influence of electric fields on antihydrogen atoms released from the ALPHA trap finds a mean axial deflection of 4.1 ± 3.4 mm for an average axial electric field of 0.51 V mm(-1). Combined with extensive numerical modelling, this measurement leads to a bound on the charge Qe of antihydrogen of Q=(-1.3 ± 1.1 ± 0.4) × 10(-8). Here, e is the unit charge, and the errors are from statistics and systematic effects.

Effect of magnetism and light sp-dopants on chain creation in Ir and Pt break junctions.

Applying the generalization of the model for chain formation in break-junctions (Di Napoli et al 2012 J. Phys.: Condens. Matter 24 135501), we study the effect of light impurities on the energetics and elongation properties of Pt and Ir chains. Our model enables us to develop a tool ideal for detailed analysis of impurity-assisted chain formation, in which zigzag bonds play an important role. In particular we focus on H (s-like) and O (p-like) impurities and assume, for simplicity, that the presence of impurity atoms in experiments results in a ..M-X-M-X-... (M: metal, X: impurity) chain structure in between the metallic leads. Feeding our model with material-specific parameters from systematic full-potential first-principles calculations, we find that the presence of such impurities strongly affects the binding properties of the chains. We find that, while both types of impurities enhance the probability of chains being elongated, the s-like impurities lower the chain's stability. We also analyze the effect of magnetism and spin-orbit interaction on the growth properties of the chains.

Autoresonant-spectrometric determination of the residual gas composition in the ALPHA experiment apparatus.

Knowledge of the residual gas composition in the ALPHA experiment apparatus is important in our studies of antihydrogen and nonneutral plasmas. A technique based on autoresonant ion extraction from an electrostatic potential well has been developed that enables the study of the vacuum in our trap. Computer simulations allow an interpretation of our measurements and provide the residual gas composition under operating conditions typical of those used in experiments to produce, trap, and study antihydrogen. The methods developed may also be applicable in a range of atomic and molecular trap experiments where Penning-Malmberg traps are used and where access is limited.

Non-Fermi-liquid behavior in transport through Co-doped Au chains.

We calculate the conductance as a function of temperature G(T) through Au monatomic chains containing one Co atom as a magnetic impurity, and connected to two conducting leads with a fourfold symmetry axis. Using the information derived from ab initio calculations, we construct an effective model H(eff) that hybridizes a 3d(7) quadruplet at the Co site with two 3d(8) triplets through the hopping of 5d(xz) and 5d(yz) electrons of Au. The quadruplet is split by spin anisotropy due to spin-orbit coupling. Solving H(eff) with the numerical renormalization group we find that at low temperatures G(T)=a-b√[T] and the ground state impurity entropy is ln(2)/2, a behavior similar to the two-channel Kondo model. Stretching the chain leads to a non-Kondo phase, with the physics of the underscreened Kondo model at the quantum critical point.

Description and first application of a new technique to measure the gravitational mass of antihydrogen.

Physicists have long wondered whether the gravitational interactions between matter and antimatter might be different from those between matter and itself. Although there are many indirect indications that no such differences exist and that the weak equivalence principle holds, there have been no direct, free-fall style, experimental tests of gravity on antimatter. Here we describe a novel direct test methodology; we search for a propensity for antihydrogen atoms to fall downward when released from the ALPHA antihydrogen trap. In the absence of systematic errors, we can reject ratios of the gravitational to inertial mass of antihydrogen >75 at a statistical significance level of 5%; worst-case systematic errors increase the minimum rejection ratio to 110. A similar search places somewhat tighter bounds on a negative gravitational mass, that is, on antigravity. This methodology, coupled with ongoing experimental improvements, should allow us to bound the ratio within the more interesting near equivalence regime.

Delecion 22q11.2: características de un grupo de pacientes atendidos en el Hospital Juan P. Garrahan / 22q11.2 deletions: features of a group of patients seen at the Juan P. Garrahan Hospital

El síndrome de Deleción 22q11.2 afecta el aparato cardiovascular, la inmunidad, las funciones endocrinológicas, la cavidad oral, el desarrollo neurocognitivo, con un fenotipo particular debido a una anomalía cromosómica. Objetivo: evaluar las características clínicas y citogenéticas de pacientes atendidos en forma multidisciplinaria, a través de un estudio observacional, descriptivo, transversal e interdisciplinario de una cohorte en seguimiento. Se diagnosticaron 194 pacientes con microdeleción 22q11.2, M 95/ F 99, con un rango etario: 0 a 192m (4días-16 a) y una mediana: 23m, el signo más constante fue la facies característica que se observó en un 100%, el 72,5% presentó malformación cardiovascular, 74,7% mostró defectos en su cavidad oral y el 30,5% hipoacusias. La mayoría de los pacientes evidenciaron compromiso de su neurodesarrollo en forma global, con retraso y trastorno de lenguaje. Se detectaron alteraciones en la inmunidad en el 64,31% con disminución de los linfocitos T, hipocalcemia en 36,8% y defectos urológicos en un 14,7%. Entre los diagnósticos citogenéticos se observó además dos pacientes con traslocaciones cromosómicos de novo que involucraban la microdeleción y un paciente con la deleción en mosaico. Los estudios parentales evidenciaron un 10% de casos heredados. La población estudiada mostró una clínica y frecuencia de anomalías similar a la referida en la bibliografía a excepción de los trastornos auditivos y urológicos que se vieron con menor frecuencia mientras que la prevalencia de alteraciones neurocognitivas fue mayor. La complejidad y variabilidad del síndrome requiere un manejo multidisciplinario.

22q11.2 deletion syndrome may affect the cardiovascular and immune systems, endocrine functions, the oral cavity, and neurocognitive development with a peculiar phenotype due to the chromosomal anomaly. Objective: To evaluate the clinical and cytogenetic features of patients followed-up by a multidisciplinary team in an observational, descriptive, cross-sectional and interdisciplinary cohort study. We diagnosed 194 patients with a 22q11.2 microdeletion, M 95/ F 99, with an age range of 0 to 192 months (4 days-16 years) and a me-dian age of 23 months. Characteristic facies was observed in 100% of the patients, cardiovascular malformation in 72.5%, oral cavity abnormalities in 74.7%, and hearing loss in 30.5%. The majority of the patients showed global impairment of neurological development, such as developmental delay and language disorders. Alterations in the immune system with a low T-lymphocyte count were found in 64.31% of the patients, hypocalcemia in 36.8%, and urinary abnormalities in 14.7%. Among the cytogenetic diagnoses, two patients were found to have de novo chromosome translocations involving the microdeletion and one patient had a mosaic deletion. Stud-ies in parents showed that the disease was inherited in 10% of the cases. Clinical findings and rate of anomalies in the study population were similar to those reported in the litera-ture, except for hearing loss and urinary disorders that were less frequently found, while the prevalence of neurocognitive impairment was higher. The complexity and variability of the syndrome warrants a multidisciplinay approach.

Modeling impurity-assisted chain creation in noble-metal break junctions.

In this work we present the generalization of the model for chain formation in break junctions, introduced by Thiess et al (2008 Nano Lett. 8 2144), to zigzag transition-metal chains with s and p impurities. We apply this extended model to study the producibility trends for noble-metal chains with impurities, often present in break junction experiments, namely, Cu, Ag and Au chains with H, C, O and N adatoms. Providing the material-specific parameters for our model from systematic full-potential linearized augmented plane-wave first-principles calculations, we find that the presence of such impurities crucially affects the binding properties of the noble-metal chains. We reveal that both the impurity-induced bond strengthening and the formation of zigzag bonds can lead to a significantly enhanced probability for chain formation in break junctions.

Resonant quantum transitions in trapped antihydrogen atoms.

The hydrogen atom is one of the most important and influential model systems in modern physics. Attempts to understand its spectrum are inextricably linked to the early history and development of quantum mechanics. The hydrogen atom's stature lies in its simplicity and in the accuracy with which its spectrum can be measured and compared to theory. Today its spectrum remains a valuable tool for determining the values of fundamental constants and for challenging the limits of modern physics, including the validity of quantum electrodynamics and--by comparison with measurements on its antimatter counterpart, antihydrogen--the validity of CPT (charge conjugation, parity and time reversal) symmetry. Here we report spectroscopy of a pure antimatter atom, demonstrating resonant quantum transitions in antihydrogen. We have manipulated the internal spin state of antihydrogen atoms so as to induce magnetic resonance transitions between hyperfine levels of the positronic ground state. We used resonant microwave radiation to flip the spin of the positron in antihydrogen atoms that were magnetically trapped in the ALPHA apparatus. The spin flip causes trapped anti-atoms to be ejected from the trap. We look for evidence of resonant interaction by comparing the survival rate of trapped atoms irradiated with microwaves on-resonance to that of atoms subjected to microwaves that are off-resonance. In one variant of the experiment, we detect 23 atoms that survive in 110 trapping attempts with microwaves off-resonance (0.21 per attempt), and only two atoms that survive in 103 attempts with microwaves on-resonance (0.02 per attempt). We also describe the direct detection of the annihilation of antihydrogen atoms ejected by the microwaves.

Estabilidad en el diagnóstico, la cognición y el lenguaje en un grupo de niños con trastornos generalizados del desarrollo / Stability of the diagnosis and of cognitive and language development evaluation in a group of children with pervasive developmental disorders

Objetivo: observar la estabilidad del diagnóstico de trastorno generalizado del desarrollo (TGD) de la cognición y del lenguaje en una muestra de niños menores de 5 años. Material y Método: 32 niños (30 varones, 2 niñas) con diagnóstico de TGD (realizado con CARS, criterios de DSM IV y criterio clínico). Evaluación del desarrollo con CAT. Dos años después reevaluación con ADI-R, ADOS, criterios del DSM IV y criterio clínico. Cognición: Test Raven. Resultados: En la primera evaluación el diagnóstico se realizó a los 42 meses ± 11 (25-63). TA 23 (71%), TGDNE 9 (28%). Desarrollo: 4 niños normales; 14 retraso, y 14 no evaluables. Lenguaje: 13 (40%) verbales, y 19 (60%) no. En la reevaluación la edad fue de 76 ± 15 meses (50 a 114). Los diagnósticos fueron: TA 20 (62,5%), TGDNE 8 (25%), retardo mental 1 (3%), no cumplen criterios para TGD 3 (9,3%) 1 ADHD, 2 signos residuales en conducta. Evaluación cognitiva: normal 10 (31%); retraso 19 (59%); 3 (9.4%) no accedieron. Lenguaje: 65% (21/32) verbales. Del grupo total, 25 (78%) niños mantuvieron el diagnóstico, 28 (87%) permanecieron dentro de la categoría TGD. En cambio sólo el 37% mantuvo el diagnóstico cognitivo. Conclusiones: la estabilidad del diagnóstico de TA fue alta en un período entre 2 y 5 años. La estabilidad de la cognición fue baja (AU)

Objective: To assess the stability of the diagnosis of pervasive developmental disorders (PDD) of cognitive and language development in a series of children under 5 years of age. Material and Methods: 32 children (30 male, 2 female) with a diagnosis of PDD (made based on CARS, DSM IV criteria, and clinical evaluation). Developmental evaluation was by CAT. The children were reevaluated two years later using the ADI-R, ADOS, DSM IV criteria, and clinical criteria. Cognitive development was measured by Raven's Test. Results: On first evaluation, the diagnosis was made at 42 months ± 11 (25-63). Autistic disorder (AD) 23 (71%), PDDNOS 9 (28%). Cognitive development: normal 4, delayed 14, and 14 could not be evaluated. Language development: 13 (40%) verbal and 19 (60%) not verbal. Reevaluation took place at 76 ± 15 months (50 a 114). Diagnoses were: AD 20 (62.5%), PDD-NOS 8 (25%), mental retardation 1 (3%), did not meet PDD criteria 3 (9.3%) ADHD 1, residual signs in behavior 2. Cognitive development: normal 10 (31%); delayed 19 (59%); 3 were not evaluated (9.4%). Language development: 65% (21/32) verbal. Overall, the diagnosis was maintained in 25 (78%) children; 28 (87%) children stayed within the PDD category. However, the cognitive diagnosis was maintained in only 37%. Conclusions: firmness of the diagnosis of AD was high in the period between 2 and 5 years of age. Diagnosis of cognitive development was not stable (AU)

Correlated dynamics of water and amphiphilic molecules in thin Newton black films.

The dynamical properties of amphiphilics in Newton black films, as well as those of the water confined between the two charged hydrophilic surfaces, have been calculated via a series of molecular dynamic calculations in several films with different water contents. A charged semiflexible amphiphilic model and the TIP5P model of water are used in our simulations [Z. Gamba, J. Chem. Phys. 129, 164901 (2008)]. We calculate the diffusion coefficients, reorientational dynamics, and the atomic density profile of water molecules as a function of the number of water molecules per amphiphilic (n(w)). We also analyze the reorientational motion of the amphiphilics and determine a strong correlation between the dynamics of water molecules and the translational and reorientational dynamics of the amphiphilics, as well as a correlation between the reorientational dynamics of the amphiphilics belonging to the upper and lower halves of the studied thin films.

Prevalencia de trastornos del desarrollo en consultorios de mediano riesgo del Hospital Garrahan / Prevalence of developmental disorders in patients seen at the aoutpatient clinic of the Garrahan Hospital

Los trastornos del desarrollo son problemas relevantes y de gran impacto para la familia y la sociedad. Según Glascoe aproximadamente el 15-18 por ciento de los niños en Estados Unidos tienen alteración del desarrollo o de la conducta. Los datos en países en vías de desarrollo son muy escasos. Objetivos. Determinar la prevalencia de trastornos del desarollo (TD) en niños de 1 año a 5 años, 11 meses y 29 días que asisten al consultorio de Mediano Riesgo (MR) del hospital de Pediatría Juan P. Garrahan. diferenciar y caracterizar a los niños con trastorno del desarrollo evidente o sospechoso. Materiales y métodos: Estudio de corte transversal, prospectivo y descriptivo realizado entre 07/2007 y 03/2008. Se incluyeron pacientes de 1 año a 5 años 11 meses y 29 días que consultaron al sector de Mediano Riesgo con trastornos del desarrollo evidente o sospechoso por evaluación clínica asistemática o presencia de factores de riesgo. Los evidentes fueron derivados para evaluación especifica del desarrollo. A los sospechosos se les realizó un interrogatorio del desarrollo y se les administró la prueba de pesquisa PRUNAPE. Resultados: Sobre un total de 922 pacientes elegidos al azar, el 45.5 por ciento (N=420) fueron incluidos por presentar alteraciones evidentes o sospechosas de trastornos del desarrollo para la población elegida en ese período fue del 20 por ciento (N=186) para los evidentes y 17.5 por ciento (N=161) para los sospechosos. Del grupo de pacientes sospechosos (N=161), el 62.2 por ciento (N=100) no pasó la prueba de pesquisa o presentó algún tipo de trastorno de conducta o disfluencia, que requirió intervención terapéutica orientada por el pediatra. Cuando la sospecha fue de los padres (N=20): un 75 por ciento falló en la PRUNAPE (N=15), un niño presentó trastorno de la conducta que requirió intervención terapéutica (N=1) y un niño disfluencia o trartamudez (N=1).

Consideraciones diagnósticas de los trastornos del espectro autista. Experienia de un servicio / Diagnostic Considerations in autism spectrum disorders: experience of a department

El proceso diagnóstico de los Trastornos Generalizados del Desarrollo (TGD) es un camino arduo para la mayoria de las familias. El tiempo hasta el diagnóstico influye en el acceso al tratamiento especifico, en el pronóstico y en el nivel de estrés familiar. Objetivo: describir la población de niños con o sin diagnóstico previo de TGD que consultaron a nuestro servicio, así como también describir el proceso del diagnóstico a través del análisis de algunas variables como: tiempo entre preocupación paterna y diagnóstico, número de profesionales consultados, conducta pediatríca y sintomas más prevalentes como motivo de consulta. Métodos: estudio transversal y retrospectivo. Se incluyeron las historias clínicas de los 76 niños atendidos en el servidio de clínicas Interdisciplinarias del Hospital Garrahan desde enero de 2004 hasta mayo de 2006. Resultados: 76 niños; relación sexo masculino; femenino 3.75:1. Los padres notaron los síntomas a los 25.5 más menos 9,1 meses y se preocuparon a los 28,2 más menos 13,5 meses. La edad de la primera consulta a un profesional fue a los 32 más menos 13.6 meses. El pedíatra fue el primer profesional que consultaron en 67,1 por ciento. La conducta del pediatra, luego de la consulta de los padres fue en el 57,6 por ciento derivar a otros profesionales y 42,4 por ciento adoptaron conducta expectante. Los padres consultaron a 3 más menos 2,3 profesionales hasta el diagnóstico definitivo. Los niños llegaron a nuestro consultorio por primera vez a la edad de 48,8 más menos 15,9 meses, variando de 25 hasta 85 meses. En 73,6 por ciento de los casos consultaron por trastornos en la comunicación, en 50 por ciento por trastornos en la socialización, en 42,1 por ciento por trastornos en la conducta y en el 32,9 por ciento por trastornos asociados. En nuestro análisis encontramos que los padres llevaron un promedio de 20 más menos 14,8 meses hasta el diagnóstico.

[Warfarin fetopathy]. / Foetopathie coumarinique.

UNLABELLED: We report a case of warfarin embryopathy. This disease affects more than 6% of fetuses exposed in utero to a vitamin K antagonist. OBSERVATION: A child whose mother was treated with acenocoumarol because of a mechanical heart valve presented with signs of warfarin embryopathy. He showed chondrodysplasia punctata with telebrachydactyly, facial dysmorphism with nasal hypoplasia, a cataract, and a bilateral pyeloureteral junction syndrome. COMMENTS: Characteristics of this drug induced embryopathy are reminded, while bearing in mind the conflict of interests between the mother and the fetus. The mechanisms of this embryopathy are debated in light of the recent knowledge concerning fetal metabolism of vitamin K.

Regulation of dendritic cell recruitment into resting and inflamed airway epithelium: use of alternative chemokine receptors as a function of inducing stimulus.

Dendritic cells (DC) were purified by flow cytometry from rat tracheal mucosa; they exhibited the phenotypic characteristics of immature DC including high endocytic activity, low CD80/86 expression, and in vitro responsiveness to a broad range of CC chemokines. Daily treatment of adult rats with the selective CCR1 and CCR5 antagonist Met-RANTES reduced baseline numbers of tracheal intraepithelial DC by 50-60%, and pretreatment of animals with Met-RANTES before inhalation of aerosol containing heat-killed bacteria abolished the rapid DC influx into the epithelium that occurred in untreated controls, implicating CCR1 and CCR5 and their ligands in recruitment of immature DC precursors into resting airway tissues and during acute bacterial-induced inflammation. Comparable levels of DC recruitment were observed during airway mucosal Sendai virus infection and after aerosol challenge of sensitized animals with the soluble recall Ag OVA. However, Met-RANTES did not affect these latter responses, indicating the use of alternative chemokine receptors/ligands for DC recruitment, or possibly attraction of different DC subsets, depending on the nature of the eliciting stimulus.

Elective laparoscopic cholecystectomy.

BACKGROUND: Gallbladder stones are very common in patients with sickle cell disease and are the cause of recurrent abdominal pain. Their management has been highly controversial, especially for children. Nonoperated patients and those treated on an emergency basis have a very high rate of morbidity (>50%). METHODS: We performed a retrospective review of a series of 29 homozygous SS sickle cell children who underwent laparoscopic cholecystectomy between 1991 and April 1998. RESULTS: Only in one case a conversion was necessary (early in the series). Exploration of the common bile duct was done via intraoperative cholangiography. There were no mortalities. The morbidity rate was 17%; (however, of the five patients concerned, four suffered from hyperthermia for 2 days. All of the children were improved and enjoyed resolution of their abdominal pain. CONCLUSIONS: We believe that elective laparoscopic cholecystectomy at the earliest time possible, along with correct perioperative management, is the treatment of choice for cholelithiasis in children with sickle cell disease.