International Society of Paediatric Oncology (SIOP) Global Mapping Program: Analysis of healthcare centers in countries of the Latin American Society of Pediatric Oncology (SLAOP).

BACKGROUND: The International Society of Paediatric Oncology Society Global Mapping Program aims to describe the local pediatric oncology capacities. Here, we report the data from Latin America. METHODS: A 10-question survey was distributed among chairs of pediatric oncology services. Centers were classified according to patient volume into high- (HVC; 100 or more new cases per year), medium- (MVC; 31-99 cases), and low-volume centers (LVC; 30 cases or less), respectively. National referral centers (NRC) were identified. RESULTS: Total 307 centers in 20 countries were identified (271 responded), and 264 responses were evaluable, accounting for 78% of the expected cases (21,359 cases per year). Seventy-seven percent of patients are treated in public centers, including additional support by civil society organizations. We found that 66% of the patients are treated in 70 centers of excellence, including 21 NRC. There was a median of one pediatric oncologist every 21 newly diagnosed patients (44 for NRC), and in 84% of the centers, nurses rotated to other services. A palliative care team was lacking in 25% of the centers. LVC with public funding have significantly lower probability of having a palliative care team or trained pediatric oncology surgeons. Psychosocial, pharmacy, and nutrition services were available in more than 93% of the centers. No radiotherapy facility was available on campus in nine of 21 NRC. CONCLUSIONS: Most children with cancer in Latin America are treated in public HVC. There is a scarcity of pediatric oncologists, specialized nurses and surgeons, and palliative care teams, especially in centers with public funding.

International Society of Paediatric Oncology (SIOP) Global Mapping Programme: Latin American Society of Pediatric Oncology (SLAOP) country-level report.

BACKGROUND: Latin American countries are improving childhood cancer care, showing strong commitment to implement the Global Initiative for Childhood Cancer, but there are scant publications of the situation at a continental level. METHODS: As part of the International Society of Paediatric Oncology Global Mapping project, delegates of each country participating in the Latin American Society of Pediatric Oncology (SLAOP) and chairs of national pediatric oncology societies and cooperative groups were invited to provide information regarding availability of national pediatric cancer control programs (NPCCP), pediatric oncology laws, pediatric oncology tumor registries, and training programs and support to diagnosis and treatment. RESULTS: Nineteen of the 20 countries participating in SLAOP responded. National delegates reported nine countries with NPCCP and four of them were launched in the past 5 years. National pediatric tumor registries are available in eight countries, and three provided published survival results. Fellowship programs for training pediatric oncologists are available in 12 countries. National delegates reported that eight countries provide support to most essential diagnosis and treatments and 11 provide partial or minimal support that is supplemented by civil society organizations. Seven countries have a pediatric oncology law. There are three international cooperative groups and four national societies for pediatric oncology. CONCLUSION: Despite many challenges, there were dramatic advances in survivorship, access to treatment, and availability of NPCCP in Latin America. Countries with highest social development scores in general provide more complete support and are more likely to have NPCCP, training programs, and reported survival results.

Epigenetic and immunological indicators of IPEX disease in subjects with FOXP3 gene mutation.

BACKGROUND: Forkhead box protein 3 (FOXP3) is the master transcription factor in CD4+CD25hiCD127lo regulatory T (Treg) cells. Mutations in FOXP3 result in IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome. Clinical presentation of IPEX syndrome is broader than initially described, challenging the understanding of the disease, its evolution, and treatment choice. OBJECTIVE: We sought to study the type and extent of immunologic abnormalities that remain ill-defined in IPEX, across genetic and clinical heterogeneity. METHODS: We performed Treg-cell-specific epigenetic quantification and immunologic characterization of severe "typical" (n = 6) and "atypical" or asymptomatic (n = 9) patients with IPEX. RESULTS: Increased number of cells with Treg-cell-Specific Demethylated Region demethylation in FOXP3 is a consistent feature in patients with IPEX, with (1) highest values in those with typical IPEX, (2) increased values in subjects with pathogenic FOXP3 but still no symptoms, and (3) gradual increase over the course of disease progression. Large-scale profiling using Luminex identified plasma inflammatory signature of macrophage activation and TH2 polarization, with cytokines previously not associated with IPEX pathology, including CCL22, CCL17, CCL15, and IL-13, and the inflammatory markers TNF-α, IL-1A, IL-8, sFasL, and CXCL9. Similarly, both Treg-cell and Teff compartments, studied by Mass Cytometry by Time-Of-Flight, were skewed toward the TH2 compartment, especially in typical IPEX. CONCLUSIONS: Elevated TSDR-demethylated cells, combined with elevation of plasmatic and cellular markers of a polarized type 2 inflammatory immune response, extends our understanding of IPEX diagnosis and heterogeneity.

Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease.

Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare primary cutaneous non-Hodgkin lymphoma involving CD8+ T cells, the genetic underpinnings of which remain incompletely understood. Here we report two unrelated patients with B cell Expansion with NF-κB and T cell Anergy (BENTA) disease and a novel presentation of SPTCL. Patient 1 presented early in life with recurrent infections and B cell lymphocytosis, linked to a novel gain-of-function (GOF) CARD11 mutation (p.Lys238del). He developed SPTCL-like lesions and membranoproliferative glomerulonephritis by age 2, treated successfully with cyclosporine. Patient 2 presented at 13 months with splenomegaly, lymphadenopathy, and SPTCL with evidence of hemophagocytic lymphohistiocytosis. Genetic analysis revealed two in cis germline GOF CARD11 variants (p.Glu121Asp/p.Gly126Ser). Autologous bone marrow transplant resulted in SPTCL remission despite persistent B cell lymphocytosis. These cases illuminate an unusual pathological manifestation for BENTA disease, suggesting that CARD11 GOF mutations can manifest in cutaneous CD4+and CD8+ T cell malignancies.

CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics.

CD40 ligand (CD40L) deficiency is a rare inborn error of immunity presenting with heterogeneous clinical manifestations. While a detailed characterization of patients affected by CD40L deficiency is essential to an accurate diagnosis and management, information about this disorder in Latin American patients is limited. We retrospectively analyzed data from 50 patients collected by the Latin American Society for Immunodeficiencies registry or provided by affiliated physicians to characterize the clinical, laboratory, and molecular features of Latin American patients with CD40L deficiency. The median age at disease onset and diagnosis was 7 months and 17 months, respectively, with a median diagnosis delay of 1 year. Forty-seven patients were genetically characterized revealing 6 novel mutations in the CD40LG gene. Pneumonia was the most common first symptom reported (66%). Initial immunoglobulin levels were variable among patients. Pneumonia (86%), upper respiratory tract infections (70%), neutropenia (70%), and gastrointestinal manifestations (60%) were the most prevalent clinical symptoms throughout life. Thirty-five infectious agents were reported, five of which were not previously described in CD40L deficient patients, representing the largest number of pathogens reported to date in a cohort of CD40L deficient patients. The characterization of the largest cohort of Latin American patients with CD40L deficiency adds novel insights to the recognition of this disorder, helping to fulfill unmet needs and gaps in the diagnosis and management of patients with CD40L deficiency.

Impact of COVID-19 in pediatric oncology care in Latin America during the first year of the pandemic.

BACKGROUND: The ongoing coronavirus 2019 disease (COVID-19) pandemic strained medical systems worldwide. We report on the impact on pediatric oncology care in Latin American (LATAM) during its first year. METHOD: Four cross-sectional surveys were electronically distributed among pediatric onco-hematologists in April/June/October 2020, and April/2021 through the Latin American Society of Pediatric Oncology (SLAOP) email list and St Jude Global regional partners. RESULTS: Four hundred fifty-three pediatric onco-hematologists from 20 countries responded to the first survey, with subsequent surveys response rates above 85%. More than 95% of participants reported that treatment continued without interruption for new and active ongoing patients, though with disruptions in treatment availability. During the first three surveys, respondents reported suspensions of outpatient procedures (54.2%), a decrease in oncologic surgeries (43.6%), radiotherapy (28.4%), stem cell transplants (SCT) (69.3%), and surveillance consultations (81.2%). Logistic regression analysis showed that at the beginning of the first wave, participants from countries with healthcare expenditure below 7% were more likely to report a decrease in outpatient procedures (odds ratio [OR]: 1.84, 95% CI: 1.19-2.8), surgeries (OR: 3, 95% CI: 1.9-4.6) and radiotherapy (OR: 6, 95% CI: 3.5-10.4). Suspension of surveillance consultations was higher in countries with COVID-19 case fatality rates above 2% (OR: 3, 95% CI: 1.4-6.2) and SCT suspensions in countries with COVID-19 incidence rate above 100 cases per 100,000 (OR: 3.48, 95% CI: 1.6-7.45). Paradoxically, at the beginning of the second wave with COVID-19 cases rising exponentially, most participants reported improvements in cancer services availability. CONCLUSION: Our data show the medium-term collateral effects of the pandemic on pediatric oncology care in LATAM, which might help delineate oncology care delivery amid current and future challenges posed by the pandemic.

Treatment of Childhood Acute Myeloid Leukemia in Uruguay: Results of 2 Consecutive Protocols Over 20 Years.

We evaluated the outcome of 71 children with de novo acute myeloid leukemia enrolled in 2 consecutive protocols in the main pediatric hospital in Uruguay. In the LAM97 protocol (n=34), patients received, as consolidation, autologous or allogeneic hematopoietic stem cell transplantation (HSCT), depending on the availability or not of a matched sibling donor. In the LAM08 protocol (n=37), patients were stratified into risk groups, autologous HSCT was abandoned, and allogeneic HSCT was limited to intermediate-risk patients with matched sibling donor and to all patients who fulfilled the high-risk criteria. Complete remission was achieved in 91% and 92% of patients in LAM97 and LAM08, respectively. Deaths in complete remission were 9.6% and 17.6%, respectively. The incidence of relapse was significantly higher in LAM97, 35.4%, versus 12.5% in LAM08. The 5-year event-free survival and overall survival were 50.0% and 55.9% in LAM97 and 59.9% and 64.8% in LAM08. The 5-year overall survival rates in each of the risk groups were 85.7% and 100% for low risk, 50.0% and 61.2% for intermediate risk, and 42.9% and 50.0% for high risk in LAM97 and LAM08 protocols, respectively. Survival has improved over the last 2 decades, and results are comparable to those published in Europe and North America.

The -(α)(5.2) Deletion Detected in a Uruguayan Family: First Case Report in the Americas.

In Uruguay, α-thalassemia (α-thal) mutations were introduced predominantly by Mediterranean European immigrant populations and by slave trade of African populations. A patient with anemia with hypochromia and microcytosis, refractory to iron treatment and with normal hemoglobin (Hb) electrophoresis was analyzed for α-thal mutations by multiplex gap-polymerase chain reaction (gap-PCR), automated sequencing and multiplex ligation-dependent probe amplification (MLPA) analyses. Agarose gel electrophoresis of the multiplex gap-PCR showed a band of unexpected size (approximately 700 bp) in the samples from the proband and mother. Automated sequencing of the amplified fragment showed the presence of the -(α)(5.2) deletion (NG_000006.1: g.32867_38062del5196) [an α-thal-1 deletion of 5196 nucleotides (nts)]. The MLPA analysis of the proband's sample also showed the presence of the -(α)(5.2) deletion in heterozygous state. We report here the presence of the -(α)(5.2) deletion, for the first time in the Americas, in a Uruguayan family with Italian ancestry, detected with a previously described multiplex gap-PCR.

Pharmacogenetics of pediatric acute lymphoblastic leukemia in Uruguay: adverse events related to induction phase drugs.

In Uruguay, the pediatric acute lymphoblastic leukemia (ALL) cure rate is 82.2%, similar to those reported in developed countries. However, many patients suffer adverse effects that could be attributed, in part, to genetic variability. This study aims to identify genetic variants related to drugs administered during the induction phase and analyze their contribution to adverse effects, considering individual genetic ancestry. Ten polymorphisms in five genes (ABCB1, CYP3A5, CEP72, ASNS, and GRIA1) related to prednisone, vincristine, and L-asparaginase were genotyped in 200 patients. Ancestry was determined using 45 ancestry informative markers (AIMs). The sample ancestry was 69.2% European, 20.1% Native American, and 10.7% African, but with high heterogeneity. Mucositis, Cushing syndrome, and neurotoxicity were the only adverse effects linked with genetic variants and ancestry. Mucositis was significantly associated with ASNS (rs3832526; 3R/3R vs. 2R carriers; OR: = 6.88 [1.88-25.14], p = 0.004) and CYP3A5 (non-expressors vs. expressors; OR: 4.55 [1.01-20.15], p = 0.049) genes. Regarding Cushing syndrome, patients with the TA genotype (rs1049674, ASNS) had a higher risk of developing Cushing syndrome than those with the TT genotype (OR: 2.60 [1.23-5.51], p = 0.012). Neurotoxicity was significantly associated with ABCB1 (rs9282564; TC vs. TT; OR: 4.25 [1.47-12.29], p = 0.007). Moreover, patients with <20% Native American ancestry had a lower risk of developing neurotoxicity than those with ≥20% (OR: 0.312 [0.120-0.812], p = 0.017). This study shows the importance of knowing individual genetics to improve the efficacy and safety of acute lymphoblastic leukemia.

Prognostic value of imaging markers from 18FDG-PET/CT in paediatric patients with Hodgkin lymphoma.

OBJECTIVE: Identification of imaging prognostic parameters for early therapy personalisation to reduce treatment-related morbidity in paediatric Hodgkin lymphoma (HL). Our aim was to evaluate quantitative markers from baseline 2-[18F]fluoro-2-deoxy-d-glucose PET/CT as prognostic factors for treatment outcomes. Another goal was assessing the prognostic value of Deauville score at interim PET/CT. METHODS: Twenty-one patients were prospectively enrolled. Median age was 12 years (range 6-17); 13 were female. Patients underwent PET/CT for disease staging (bPET), at the end of two cycles of chemotherapy (iPET) and after chemotherapy. A total of 173 lesions were segmented from bPET. We calculated 51 texture features for each lesion. Total metabolic tumour volume and total lesion glycolysis from bPET were calculated for response prediction at iPET. Univariate and multivariate analyses were used for optimal cut-off values to separate responders at iPET according to the Deauville score. RESULTS: We identified four texture features as possible independent predictors of treatment outcomes at iPET. The areas under the ROC for univariate analysis were 0.89 (95% CI, 0.75-1), 0.82 (95% CI, 0.64-1), 0.79 (95% CI, 0.59-0.99) and 0.89 (95% CI, 0.75-1). The survival curves for patients assigned Deauville scores 1, 2, 3 and X were different from those assigned a score 4, with 4-year progression free-survival (PFS) rates of 85 versus 29%, respectively (P = 0.05). CONCLUSIONS: We found four textural features as candidates for predicting early response to chemotherapy in paediatric patients with HL. The Deauville score at iPET was useful for differentiating PFS rates.

IMPORTANCE trial: a provisional study-design of a single-center, phase II, double-blinded, placebo-controlled, randomized, 4-week study to compare the efficacy and safety of intranasal esketamine in chronic opioid refractory pain.

Background:  Cancer is the second leading cause of death globally. Up to 86% of advanced cancer patients experience significant pain, while 10-20% live in chronic pain. Besides, increasing prescription of opioids resulted in 33,000 deaths in the US in 2015. Both reduce patients' functional status and quality of life. While cancer survival rates are increasing, therapeutic options for chronic opioid refractory pain are still limited. Esketamine is the s-enantiomer of ketamine, with superior analgesic effect and less psychotomimetic side effects. Intranasal esketamine was approved by the FDA for treatment-resistant depression. However, its use in chronic cancer pain has never been tested. Therefore, we propose a phase II, randomized, placebo-controlled trial to evaluate the efficacy and safety of intranasal esketamine in chronic opioid refractory cancer pain. Methods and analysis: We will recruit 120 subjects with chronic opioid refractory pain, defined as pain lasting more than 3 months despite optimal therapy with high dose opioids (>60 mg morphine equivalent dose/day) and optimal adjuvant therapy. Subjects will be randomized into two groups: intranasal esketamine (56mg) and placebo. Treatment will be administered twice a week for four consecutive weeks. The primary outcome is defined as reduction in the Numeric Pain Rating Scale (NPRS) after first application. Secondary outcomes include NPRS reduction after four weeks, the number of daily morphine rescue doses, functional status and satisfaction, and depression. Conclusion: This study may extend therapeutic options in patients with chronic pain, thus improving their quality of life and reducing opioid use. Trial registration: Clinical Trials.gov, NCT04666623. Registered on 14 December 2020.

Modificaciones en el tratamiento de pacientes con bronquiolitis luego de la radiografía de tórax / Treatment modifications in patients with bronchiolitis after chest X-rays

Resumen: Introducción: las pautas nacionales vigentes sobre bronquiolitis recomiendan la realización de radiografía de tórax a todos los pacientes admitidos en áreas de internación. Estudios recientes sugieren que esta conducta tiene bajo rendimiento para diagnosticar complicaciones y determina una mayor prescripción de antibióticos. Objetivos: analizar las características de la radiografía de tórax en pacientes con bronquiolitis que requieren hospitalización y comprobar si se modificó la conducta terapéutica a partir de la realización de la misma. Material y métodos: estudio observacional prospectivo durante el invierno de 2015 en dos centros de asistencia pediátrica. Las radiografías fueron interpretadas por médicos clínicos y un imagenólogo siguiendo un protocolo único en forma independiente. Resultados: se incluyeron 82 pacientes en el estudio. Se observó una escasa coincidencia entre las lecturas radiográficas del médico clínico y el médico imagenólogo. El médico clínico informó neumonía en la radiografía con mayor frecuencia que el imagenólogo (26% vs 6%), Se observó indicación de antibióticos por parte del MC en pacientes con radiografías informadas por el MI como típicas de bronquiolitis. Conclusiones: la radiografía de tórax en lactantes hospitalizados por bronquiolitis fue normal o típica en un 93%. Hubo escasa coincidencia entre el informe del médico clínico y el médico imagenólogo. Se constató una mayor prescripción de antibióticos basado en la interpretación radiográfica realizada por el médico clínico, y no confirmadas por el MI.

Summary: Introduction: current national guidelines recommend routine chest x-rays to patients admitted with bronchiolitis. Recent publications suggest that performing chest x-rays to all admitted infants results in low performance rates in the diagnosis of complications and leads to higher rates of antibiotic prescription. Objectives: to analyze chest x-ray findings in admitted patients with bronchiolitis, and to evaluate whether x-rays findings determine modifications in medical treatment. Compare the interpretation of the x-rays between clinicians and radiologists. Method: observational study conducted in winter 2015, in the pediatric units of two different hospitals. X-rays were independently interpreted by clinicians and by one radiologist, following a single protocol. Results: 82 patients were included in the study. According to the radiologist, 6 % showed complications or non-consistent findings with broncholitis in the chest x-ray (atypical). Clinicians and radiologists interpretation of chest x-rays were barely coincident. Clinicians diagnosed pneumonia more frequently than imagenologists (26% vs 6%), leading to higher antibiotic prescription. Clinicians diagnosed anitbiotics in x-rays informed as typical bronchiolitis by imagenologists. Conclusions: chest x-ray in admitted infants with bronchiolitis were either normal or typical in 93 % of normal or typical findings. Clinicians´ and radiologists´ interpretations differed significantly. Clinicians overdiagnosed pneumonia, and thus antibiotic prescription was higher based on their x-ray interpretation.

Neuroblastoma en niños menores de 18 meses. Experiencia de 10 años en Centro Hematooncológico / Neuroblastoma less than 18 months of age. 10 years experience in pediatric hematooncologic of the Pereira Rossell Hospital Center

Introducción: el neuroblastoma es el tumor maligno más frecuente en los lactantes. Su curso clínico es variable, desde la regresión espontánea a la progresión maligna, y los factores pronósticos son múltiples, como edad, estadio, amplificación de N-myc y ploidía tumoral. Se describen las características de todos los pacientes con neuroblastoma menores de 18 meses asistidos en CHOP. Pacientes y métodos: estudio observacional, descriptivo y retrospectivo en el período entre 31 de enero de 2000 y 31 de enero de 2011. El diagnóstico se realizó por histología y aspirado de médula ósea. Los pacientes se estadificaron por INSS; el tratamiento se decidió según estadio y riesgo. Resultados: se incluyeron 22 pacientes menores de 18 meses (52% de todos los neuroblastomas), con una media de edad de 9,6 meses. Once pacientes se encontraban en estadio 4. La localización más frecuente fue suprarrenal; presentaban metástasis 13 pacientes. Quince niños recibieron poliquimioterapia y 20 fueron tratados quirúrgicamente. La amplificación del gen N-myc se demostró en tres pacientes. La sobrevida global fue de 77% y la sobrevida libre de enfermedad fue de 77%. Discusión y conclusiones: la mayor parte de los casos fueron diagnosticados en niños menores de 9 meses. Fueron más frecuentes los estadios 4 y 1. No se pudo demostrar asociación entre N-myc y estadio de enfermedad. La sobrevida fue excelente.

Introduction: neuroblastoma is the most common malignant tumor in infants. Its clinical behavior is variable, from spontaneous regression to malignant progression; prognostic factors are multiple, such as age, stage, N-myc amplification and tumor ploidy. We describe the characteristic of all patients with neuroblastoma less than 18 months of age assisted in CHOP. Patients and methods: retrospective, observational and descriptive study in the period between 31/1/00 y 31/01/11. Diagnose was made from histology and bone marrow aspirate. Patients were classified by INSS stage; treatment was decided according to stage and risk. Results: 22 patients were included (52% of all neuroblastomas), with a mean age of 9,6 months. Eleven patients were classified in stage 4. The most frequent localization was adrenal; 14 patients presented methastasis. Fifteen patients received chemotherapy and 20 were surgically intervened. N-myc amplification was detected in 3 patients. Overall survival was 77% and event-free survival was 77%. Discussion and conclusions: the majority of cases were diagnosed in children younger than 9 months. Stages 4 and 1 were the most frequent. No association between N-myc and stage could be determined. Overall and event-free survival were excellent.

Trasplante alogénico haploidéntico de progenitores hematopoyéticos en pediatría en Uruguay / Haploidentical allogeneic hematopoietic transplant of hematopoietic parents in pediatrics in Uruguay

Introducción: el trasplante alogénico de progenitores hematopoyéticos (TPH) es actualmente la única opción de tratamiento curativo disponible para un número de neoplasias hematológicas de alto riesgo, así como para algunas enfermedades no malignas hereditarias o adquiridas. El TPH haploidéntico (HI) es una opción válida para pacientes que no tienen un hermano HLA-idéntico. Objetivo: describir los resultados obtenidos con TPH HI en pediatría. Material y método: en el año 2005 se inició en el Centro Hemato-Oncológico Pediátrico del Centro Hospitalario Pereira Rossell un programa de TPH HI para aquellos pacientes sin donante relacionado HLA-idéntico. Resultados: se trasplantaron 32 pacientes, 24 con neoplasias hematológicas y 8 con enfermedades no malignas. Se utilizaron dos estrategias de prevención de la enfermedad injerto contra huésped (EICH), depleción de linfocitos T (DLT) in vitro (28 pacientes) y DLT alorreactivos in vivo con altas dosis de ciclofosfamida postrasplante (4 pacientes). Veintisiete pacientes (84%) tuvieron un implante con quimerismo total del donante. La incidencia de EICH agudo y crónico fue de 26,9% y 11,8%, respectivamente. La muerte no relacionada a recaída al año del trasplante fue de 21,9%. Con una mediana de seguimiento de 32 meses, la sobrevida global a dos años fue de 52,4%. Conclusiones: el TPH HI ha demostrado ser una opción factible en nuestro medio para aquellos pacientes sin donante HLA-idéntico. Los resultados son comparables a los obtenidos con otros donantes alternativos y con costos más accesibles. Uruguay está hoy día mejor posicionado para ofrecer un TPH a los pacientes que así lo requieran...

Neuroblastoma en niños menores de 18 meses. Experiencia de 10 años en Centro Hematooncológico Pediátrico del Centro Hospitalario Pereira Rossel / Neuroblastome in children younger than 18 months. Ten years experience at the Pediatric Hemato Oncological Center of the Centro Hospitalario Pereira Rossell

El neuroblastoma es el tumor maligno más frecuente en los lactantes. Su curso clínico es variable, desde la regresión espontánea a la progresión maligna, y los factores pronósticos son múltiples, como edad, estadio, amplificación de N-myc y ploidía tumoral. Se describen las características de todos los pacientes con neuroblastoma menores de 18 meses asistidos en CHOP. Pacientes y métodos: estudio observacional, descriptivo y retrospectivo en el período entre 31 de enero de 2000 y 31 de enero de 2011. El diagnóstico se realizó por histología y aspirado de médula ósea. Los pacientes se estadificaron por INSS; el tratamiento se decidió según estadio y riesgo. Resultados: se incluyeron 22 pacientes menores de 18 meses (52% de todos los neuroblastomas), con una media de edad de 9,6 meses. Once pacientes se encontraban en estadio 4. La localización más frecuente fue suprarrenal; presentaban metástasis 13 pacientes. Quince niños recibieron poliquimioterapia y 20 fueron tratados quirúrgicamente. La amplificación del genN-myc se demostró en tres pacientes. La sobrevida global fue de 77% y la sobrevida libre de enfermedad fuede 77%. Discusión y conclusiones: la mayor parte de los casosfueron diagnosticados en niños menores de 9 meses. Fueron más frecuentes los estadios 4 y 1. No se pudo demostrar asociación entre N-myc y estadio de enfermedad. La sobrevida fue excelent...

Consulta pediátrica en la primera infancia: una oportunidad para la detección de indicadores de riesgo en el desarrollo emocional. Experiencia de tamizaje e intervención temprana / Pediatric consultation in early childhood: an opportunity to detect risk indicators in emotional development. Experience screening and early intervention

Este estudio considera al control pediátrico como una instancia potencial de promoción de la salud mental infantil.Se evaluaron 73 bebés durante un control pediátrico con la escala ADBB (Alarme Détresse Bébé, alerta sobre el desamparo o retraimiento del bebé, Guedeney 2001),que consiste en una observación sistematizada del niño entre 2 y 24 meses y permite la detección temprana de indicadores de riesgo en el desarrollo emocional primario. En los niños que se detectó retraimiento, se brindó a los pediatras recursos para implementar intervenciones en la consulta pediátrica y cinco meses después se realizó la segunda evaluación. Resultados: un 25%(18 niños) de los bebés presentaron indicadores de retraimiento en la primera evaluación(19% leves y 6% severos). En la segunda aplicación de la escala, posterior a la intervención, los lactantes con retraimiento se redujeron en un 71% (10 de 14 niños).Conclusiones:la aplicación de la escala ADBB en la consulta pediátrica posibilita una perspectiva más global y sistematizada del desarrollo del bebé. Permite detectar en forma temprana lactantes que presentan retraimiento e implementar intervenciones oportunas dentro del ámbito habitual de la consulta, ganando así en calidad de atención.

Quiste dural espinal: Reporte de un caso / Dural spinal cyst: report of a case

Introducción: se reporta un caso de quiste dural espinal. Estos muy poco frecuentes quiste se caracterizan por tener todas sus paredes formadas por duramadre. Caso clínico: el caso que presentamos es el de una niña de doce años que consultó por paraparesia progresiva, planteándose a su ingreso un proceso expansivo medular. Los estudios de imagen evidenciaron una extensa colección extramedular con densidad de líquidocefalorraquídeo de ubicación dorsal con respecto a la médula y de topografía torácica. Se operó con planteo de quiste aracnoidal, haciéndose una fenestración de los polos superior e inferior de la lesión. Al persistir el sector medio de la misma, con mejoría clínica parcial, se reoperó. en la segunda cirugía se generó una ampla comunicación cisto - subaracnoidea. Se enviaron las paredes del quiste a anatomia patológica, evidenciandose un tejido de características similares a la duramadre. La evolución posterior fue buena, con recuperación del déficit motor aunque persiste cierta dificultad en la marcha. Discusión y conclusiones: es de interés reportar este cas, dado que hasta el año 1998, sólo se publicaron once pacientes portadores de quiste espinales durales. El tratamiento recomendado en estos casos según la literatura y nuestra experiencia es la derivación cisto - subaracnoidea.(AU)

Quiste dural espinal: Reporte de un caso / Dural spinal cyst: report of a case

Introducción: se reporta un caso de quiste dural espinal. Estos muy poco frecuentes quiste se caracterizan por tener todas sus paredes formadas por duramadre. Caso clínico: el caso que presentamos es el de una niña de doce años que consultó por paraparesia progresiva, planteándose a su ingreso un proceso expansivo medular. Los estudios de imagen evidenciaron una extensa colección extramedular con densidad de líquidocefalorraquídeo de ubicación dorsal con respecto a la médula y de topografía torácica. Se operó con planteo de quiste aracnoidal, haciéndose una fenestración de los polos superior e inferior de la lesión. Al persistir el sector medio de la misma, con mejoría clínica parcial, se reoperó. en la segunda cirugía se generó una ampla comunicación cisto - subaracnoidea. Se enviaron las paredes del quiste a anatomia patológica, evidenciandose un tejido de características similares a la duramadre. La evolución posterior fue buena, con recuperación del déficit motor aunque persiste cierta dificultad en la marcha. Discusión y conclusiones: es de interés reportar este cas, dado que hasta el año 1998, sólo se publicaron once pacientes portadores de quiste espinales durales. El tratamiento recomendado en estos casos según la literatura y nuestra experiencia es la derivación cisto - subaracnoidea.