Tuberculosis disease in immunocompromised children and adolescents: a pTBnet multi-centre case-control study.

BACKGROUND: In high-resource settings the survival of immunocompromised (IC) children has increased and immunosuppressive therapies are increasingly being used. This study aimed to determine the clinical characteristics, performance of diagnostic tools and outcome of IC children with TB in Europe. METHODS: Multicentre, matched case-control study within the Paediatric Tuberculosis Network European Trials Group (ptbnet), capturing TB cases <18 years diagnosed 2000-2020. RESULTS: 417 TB cases were included, comprising 139 children with IC (HIV, inborn errors of immunity, drug-induced immunosuppression and other immunocompromising conditions) and 278 non-IC children as controls. Non-respiratory TB was more frequent among cases than controls (32.4% vs. 21.2%; p = 0.013). IC patients had an increased likelihood of presenting with severe disease (57.6% vs. 38.5%; p < 0.001; OR [95% CI]: 2.073 [1.37-3.13]). Children with IC had higher rates of false-negative tuberculin skin test (31.9% vs. 6.0%; p < 0.001) and QuantiFERON-TB Gold assay (30.0% vs. 7.3%; p < 0.001) results at diagnosis. Overall, the microbiological confirmation rate was similar in IC and non-IC cases (58.3% vs. 49.3%; p = 0.083). Although the mortality in IC children was <1%, the rate of long-term sequelae was significantly higher than in non-IC cases (14.8% vs. 6.1%; p = 0.004). CONCLUSIONS: IC children with TB disease in Europe have increased rates of non-respiratory TB, severe disease, and long-term sequelae. Immune-based TB tests have poor sensitivity in those children. Future research should focus on developing improved immunological TB tests that perform better in IC patients, and determining the reasons for the increased risk of long-term sequelae, with the aim to design preventive management strategies.

Treatments for multi-system inflammatory syndrome in children - discharge, fever, and second-line therapies.

Scarce evidence exists about the best treatment for multi-system inflammatory syndrome (MIS-C). We analyzed the effects of steroids, intravenous immunoglobulin (IVIG), and their combination on the probability of discharge over time, the probability of switching to second-line treatment over time, and the persistence of fever 2 days after treatment. We did a retrospective study to investigate the effect of different treatments on children with MIS-C from 1 March 2020 to 1 June 2021. We estimated the time-to-event probability using a Cox model weighted by propensity score to balance the baseline characteristics. Thirty of 132 (22.7%) patients were initially treated with steroids alone, 29/132 (21.9%) with IVIG alone, and 73/132 (55%) with IVIG plus steroids. The probability of early discharge was higher with IVIG than with IVIG plus steroids (hazard ratio [HR] 1.65, 95% CI 1.11-2.45, p = 0.013), but with a higher probability of needing second-line therapy compared to IVIG plus steroids (HR 3.05, 95% CI 1.12-8.25, p = 0.028). Patients on IVIG had a higher likelihood of persistent fever than patients on steroids (odds ratio [OR] 4.23, 95% CI 1.43-13.5, p = 0.011) or on IVIG plus steroids (OR 4.4, 95% CI 2.05-9.82, p < 0.001). No differences were found for this endpoint between steroids or steroids plus IVIG.    Conclusions: The benefits of each approach may vary depending on the outcome assessed. IVIG seemed to increase the probability of earlier discharge over time but also of needing second-line treatment over time. Steroids seemed to reduce persistent fever, and combination therapy reduced the need for escalating treatment. What is Known: • Steroids plus intravenous immunoglobulin, compared with intravenous immunoglobulin alone for multi-system inflammatory syndrome (MIS-C) might reduce the need for hemodynamic support and the duration of fever, but the certainty of the evidence is low. What is New: • Intravenous immunoglobulin, steroids, and their combination for MIS-C may have different outcomes. • In this study, intravenous immunoglobulin increased the probability of discharge over time, steroids reduced persistent fever, while combination therapy reduced the need for second-line treatments.

Green Alternatives in Treatment of Liver Diseases: the Challenges of Traditional Medicine and Green Nanomedicine.

Over the last decade, liver diseases have become a global problem, with approximately two million deaths per year. The high increase in the mortality rate of these diseases is mostly related to the limitations in the understanding of the evolutionary clinical cases of liver diseases, the low delivery of drugs in the liver, the non-specific administration of drugs, and the side effects generated at the systemic level by conventional therapeutic agents. Today it is common knowledge that phytochemicals have a high curative potential, even in the prevention and/or reversibility of liver disorders; however, even using these green molecules, researchers continue to deal with the same challenges implemented with conventional therapeutic agents, which limits the pharmacological potential of these friendly molecules. On the other hand, the latest advances in nanotechnology have proven that the use of nanocarriers as a delivery system for green active ingredients, as well as conventional ones, increases the pharmacological potential of these active ingredients due to their physicochemical characteristics (size, Zeta potential, etc.,) moldable depending on the therapeutic objective; in addition to the above, it should be noted that in recent years, nanoparticles have been developed for the specific delivery of drugs towards a specific target (stellar cells, hepatocytes, Kupffer cells), depending on the clinical state of the disease in the patient. The present review addresses the challenges of traditional medicine and green nanomedicine as alternatives in the treatment of liver diseases.

Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability.

Mutations in SPTAN1 gene, encoding the nonerythrocyte αII-spectrin, are responsible for a severe developmental and epileptic encephalopathy (DEE5) and a wide spectrum of neurodevelopmental disorders, as epilepsy with or without intellectual disability (ID) or ID with cerebellar syndrome. A certain genotype-phenotype correlation has been proposed according to the type and location of the mutation. Herein, we report three novel cases with de novo SPTAN1 mutations, one of them associated to a mild phenotype not previously described. They range from (1) severe developmental encephalopathy with ataxia and a mild cerebellar atrophy, without epilepsy; (2) moderate intellectual disability, severe language delay, ataxia and tremor; (3) normal intelligence, chronic migraine, and generalized tonic-clonic seizures. Remarkably, all these patients showed brain MRI abnormalities, being of special interest the subependymal heterotopias detected in the latter patient. Thus we extend the SPTAN1-related phenotypic spectrum, both in its radiological and clinical involvement. Furthermore, after systematic analysis of all the patients so far reported, we noted an excess of male versus female patients (20:9, p = 0.04), more pronounced among the milder phenotypes. Consequently, some protection factor might be suspected among female carriers, which if confirmed should be considered when establishing the pathogenicity of milder genetic variants in this gene.

Multi-inflammatory Syndrome in Children Related to Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) in Spain.

Some clusters of children with a multisystem inflammatory syndrome (MIS-C) associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection have been reported. We describe the epidemiological and clinical features of children with MIS-C in Spain. MIS-C is a potentially severe condition that presents in children with recent SARS-CoV-2 infection.

Diagnostic Accuracy of the Panbio Severe Acute Respiratory Syndrome Coronavirus 2 Antigen Rapid Test Compared with Reverse-Transcriptase Polymerase Chain Reaction Testing of Nasopharyngeal Samples in the Pediatric Population.

We conducted a multicenter clinical validity study of the Panbio coronavirus disease 2019 Antigen Rapid Test of nasopharyngeal samples in pediatric patients with coronavirus disease 2019-compatible symptoms of ≤5 days of evolution. Our study showed limited accuracy in nasopharyngeal antigen testing: overall sensitivity was 45.4%, and 99.8% of specificity, positive-predictive value was 92.5%.

The demographic history of Castanea sativa Mill. in southwest Europe: A natural population structure modified by translocations.

In domesticated species, translocation of materials can alter natural demographic patterns; this may have occurred in Castanea sativa (European chestnut), a species conserved in several refuges, with a long domestication history for nut production. Bayesian analysis of population genetic structure in marginal areas and in the centre of C. sativa range, considering spatial information and making corrections for unbalanced size, allowed visualization of a genetic structure that was subsequently analysed by approximate Bayesian computation to assess its natural demographic history and test the origin of some hypothetical translocated germplasm. We obtained evidence of C. sativa population contraction during the earliest Pleistocene, resulting in a split into eastern (Greek) and western (Italian and Iberian) populations. The northern Iberian population, in the Eurosiberian area, is one of the vestiges that remained after the contraction that split the global Tertiary population. A secondary encounter, occurred from Middle to Upper Pleistocene, which explains the hybrid origin of the Western Mediterranean population present in Italy and in the centre and south of the Iberian Peninsula. It has been demonstrated that a germplasm translocation from Italy to the Central Iberian Range may have occurred. Recent translocations have hybridized with the local northern Iberian population, producing naturalized populations with high diversity. The populations of C. sativa in southwestern Europe have a genetic structure compatible with a natural origin, in which signs of population contractions and expansions caused by climatic oscillations since the Late Miocene have been imprinted.

Sortin2 enhances endocytic trafficking towards the vacuole in Saccharomyces cerevisiae.

BACKGROUND: A highly regulated trafficking of cargo vesicles in eukaryotes performs protein delivery to a variety of cellular compartments of endomembrane system. The two main routes, the secretory and the endocytic pathways have pivotal functions in uni- and multi-cellular organisms. Protein delivery and targeting includes cargo recognition, vesicle formation and fusion. Developing new tools to modulate protein trafficking allows better understanding the endomembrane system mechanisms and their regulation. The compound Sortin2 has been described as a protein trafficking modulator affecting targeting of the vacuolar protein carboxypeptidase Y (CPY), triggering its secretion in Saccharomyces cerevisiae. RESULTS: A reverse chemical-genetics approach was used to identify key proteins for Sortin2 bioactivity. A genome-wide Sortin2 resistance screen revealed six yeast deletion mutants that do not secrete CPY when grown at Sortin2 condition where the parental strain does: met18, sla1, clc1, dfg10, dpl1 and yjl175w. Integrating mutant phenotype and gene ontology annotation of the corresponding genes and their interactome pointed towards a high representation of genes involved in the endocytic process. In wild type yeast endocytosis towards the vacuole was faster in presence of Sortin2, which further validates the data of the genome-wide screen. This effect of Sortin2 depends on structural features of the molecule, suggesting compound specificity. Sortin2 did not affect endocytic trafficking in Sortin2-resistant mutants, strongly suggesting that the Sortin2 effects on the secretory and endocytic pathways are linked. CONCLUSIONS: Overall, the results reveal that Sortin2 enhances the endocytic transport pathway in Saccharomyces cerevisiae. This cellular effect is most likely at the level where secretory and endocytic pathways are merged. Them Sortin2 specificity over the endomembrane system places it as a powerful biological modulator for cell biology.

Birth defects in a cohort of infants born to HIV-infected women in Spain, 2000-2009.

BACKGROUND: Antiretroviral therapy (ART) in pregnancy has resulted in a marked impact on reducing the risk of mother-to-child transmission (MCT) of HIV. However the safety of in utero ART exposure in newborns remains a concern. METHODS: A multicenter prospective observational study of HIV-infected mother and their infants was performed in Madrid, Spain, from 2000 to 2009. Children had regular visits with clinical examination according to protocol until the age of 24 months. An abdominal ultrasound and an echocardiogram were scheduled during follow up. Birth defects (BDs) were registered according to European Surveillance of Congenital Anomalies (EUROCAT). RESULTS: A total of 897 live births from 872 mothers were included. Overall the birth defects prevalence observed was 6.9% (95% CI 5.4-9.1).The most commonly reported birth defects types were in genital organs and urinary system (19 cases, 30.6%) and cardiovascular system (17 cases, 27.4%). There was no increased risk for infants exposed in the first trimester to ARVs compared with unexposed infants. No significant associations were observed between exposure to any individual antiretroviral agent during pregnancy and birth defects CONCLUSION: A higher prevalence of BDs was observed, higher than previously reported. In utero exposure to ART was not proved to be a major risk factor of birth defects in infants. However the relatively small number of patients is a major limitation of this study.

CENTRAL NERVOUS SYSTEM INFECTION BY GROUP A STREPTOCOCCUS IN CHILDREN IN SPAIN (2019-2023).

Central nervous system infections in children caused by group A Streptococcus are rare. This study, conducted across 52 hospitals in Spain from 2019 to 2023, identified 32 cases of central nervous system infections in children caused by group A Streptococcus, with a significant increase from October 2022 onward (1.1% vs. 5.9%, P = 0.002). Half required pediatric intensive care unit admission, 12.5% exhibited sequelae and the mortality rate was 6.2%. Mastoiditis was the predominant primary infection.

Dynamin-Related Proteins Enhance Tomato Immunity by Mediating Pattern Recognition Receptor Trafficking.

Pattern recognition receptor (PRR) trafficking to the plasma membrane and endocytosis plays a crucial role in pattern triggered immunity (PTI). Dynamin-related proteins (DRPs) participate in endocytosis and recycling. In Arabidopsis, DRP1 and DRP2 are involved in plasma membrane scission during endocytosis. They are required for the PRR FLS2 endocytosis induction and PTI activation after elicitation with flg22, the MAMP recognized by FLS2. In tomato, SlDRP2A regulates the PRR LeEIX2 endocytosis and PTI activation in response to EIX, the MAMP recognized by LeEIX2. However, it is unknown if other DRPs participate in these processes. Taking advantage of bioinformatics tools, we selected SlDRP2B among the eight DRP2 tomato orthologues to study its functionality in trafficking and plant immunity. Through transient expression of SlDRP1B and its dominant-negative mutant on Nicotiana benthamiana and Nicotiana tabacum, we analyzed SlDRP1B function. We observed that SlDRP1B is physically associated with the LeEIX2 and modifies LeEIX2 trafficking, increasing its presence in endosomes. An enhancement of EIX-elicitated defense responses accompanies the role of SlDRP1B on LeEIX endocytosis. In addition, SlDRP1B overexpression enhanced flg22-elicited defense response. With these results, we conclude that SlDRP1B regulates PRR trafficking and, therefore, plant immunity, similarly to the SlDRP2A role.

Staphylococcus aureus Community-acquired Pneumonia in Children After 13-Valent Pneumococcal Vaccination (2008-2018): Epidemiology, Clinical Characteristics and Outcomes.

BACKGROUND: The epidemiology of community-acquired pneumonia (CAP) has changed, influenced by sociosanitary conditions and vaccination status. We aimed to analyze the recent epidemiology of bacterial CAP in hospitalized children in a setting with high pneumococcal vaccination coverage and to describe the clinical characteristics of pediatric Staphylococcus aureus CAP. METHODS: Children <17 years old hospitalized from 2008 to 2018 with bacterial CAP in 5 tertiary hospitals in Spain were included. Cases with pneumococcal CAP were randomly selected as comparative group following a case-control ratio of 2:1 with S. aureus CAP. RESULTS: A total of 313 bacterial CAP were diagnosed: Streptococcus pneumoniae CAP (n = 236, 75.4%), Streptococcus pyogenes CAP (n = 43, 13.7%) and S. aureus CAP (n = 34, 10.9%). Throughout the study period, the prevalence of S. pyogenes increased (annual percentage change: +16.1% [95% CI: 1.7-32.4], P = 0.031), S. pneumoniae decreased (annual percentage change: -4.4% [95 CI: -8.8 to 0.2], P = 0.057) and S. aureus remained stable. Nine isolates of S. aureus (26.5%) were methicillin-resistant. Seventeen cases (50%) with S. aureus CAP had some pulmonary complication and 21 (61.7%) required intensive care. S. pneumoniae CAP showed a trend toward higher prevalence of pulmonary complications compared with S. aureus CAP (69.1% vs. 50.0%, P = 0.060), including higher frequency of pulmonary necrosis (32.4% vs. 5.9%, P = 0.003). CONCLUSIONS: The incidence of S. aureus CAP in children remained stable, whereas the prevalence of pneumococcal CAP decreased and S. pyogenes CAP increased. Patients with S. aureus presented a high frequency of severe outcomes, but a lower risk of pulmonary complications than patients with S. pneumoniae.

Influence of Aquatic Therapy in Children and Youth with Cerebral Palsy: A Qualitative Case Study in a Special Education School.

Cerebral palsy results in the progressive loss of motor functions, with a negative impact on daily activities and participation. Despite the well described benefits of aquatic therapy in children, little is known about the effects of the same in school settings. This study aimed to describe the experience of children and youth with cerebral palsy participating in an aquatic therapy program within a special education school considering their educational and therapeutic perspectives. A qualitative descriptive case study with embedded units was developed, comprising 27 participants. This study employed purposeful sampling to include children and youth with cerebral palsy from the Asociación Ayuda a la Paralisis Cerebral (APACE) special education school, together with their parents, the special education teachers, and health care professionals. Data were collected via non-participant observation, semi-structured and informal interviews, focus groups, and researcher field notes. A thematic analysis was conducted, revealing the following themes: (a) the connection with the environment; (b) postural improvements and mobility; (c) the opportunity to perform tasks; (d) learning and transfer. A motivating environment leads to physical, cognitive and social benefits, both at school and in the home. Aquatic therapy was viewed as a means for learning and participation. These findings may enhance understanding regarding the potential benefits of implementing multidisciplinary aquatic therapy programs in specialist school settings.

[Familial presentation of microdeletion and inverted microduplication with array-CGH]. / Microdelecion y microduplicacion inversa de presentacion familiar con array-CGH.

INTRODUCTION. Over the years the field of genetics has advanced significantly. Following the polymerase chain reaction and mass sequencing techniques, the array-CGH technique (comparative genomic hybridization) has helped to improve genetic procedures. A resolution of up to 200 kb is currently being accomplished in the human genome. CASE REPORTS. We report the case of two sisters with delays in developmental milestones and a characteristic phenotype with normal results from initial studies of the karyotype and subtelomeric regions. Array-CGH was later used to detect a deletion and duplication that were different in each of the sisters, this being the result of a balanced paternal translocation. In the two cases, despite being the result of the same translocation, the genetic and phenotype expression were different. CONCLUSIONS. The precision achieved by means of array-CGH is making it possible to establish a correlation between minimum gains or losses of the genome and the clinical features. Chromosome 3 codes for genes that play a fundamental role in neurological development (contactins, neurotransmitter modulator proteins, etc.) and chromosome 10 codes for proteins involved in apoptosis and proteins regulating transcription. In the literature there have been reports of chromosome 3 deletion syndrome and monosomy 10. Likewise, there are also descriptions of rearrangements between these chromosomes in individuals from the same family. Nevertheless, we describe two cases of a family with a micro-deletion and an inverted microduplication, detected by means of array-CGH, that have not been reported to date. This technique can provide a diagnostic and prognostic approximation as regards development and offer genetic counselling.

TITLE: Microdelecion y microduplicacion inversa de presentacion familiar con array-CGH.Introduccion. A lo largo de los años se han logrado avances en torno a la genetica; tras la reaccion en cadena de la polimerasa y las tecnicas de secuenciacion masiva, la tecnica array-CGH (comparative genomic hybridization) ha contribuido a mejorar los procedimientos geneticos. Actualmente esta consiguiendo una resolucion de hasta 200 kb en el genoma humano. Casos clinicos. Se presentan dos hermanas con retraso en los hitos del desarrollo y fenotipo caracteristico con estudio inicial de cariotipo y de regiones subtelomericas normales. Posteriormente, mediante array-CGH se detecto en cada una una delecion y una duplicacion diferentes, fruto de una translocacion equilibrada paterna. En ambas, siendo fruto de una misma translocacion, muestra diferente expresion genetica y fenotipica. Conclusiones. La precision conseguida mediante el array-CGH esta permitiendo correlacionar minimas ganancias o perdidas del genoma con la clinica. En el cromosoma 3 se encuentran codificados genes fundamentales en el desarrollo neurologico (contactinas, proteinas moduladoras de neurotransmisores…), y en el cromosoma 10, proteinas implicadas en la apoptosis y proteinas reguladoras de la transcripcion. En la bibliografia se han descrito el sindrome de delecion del cromosoma 3 y la monosomia 10. Igualmente, hay descritos reordenamientos entre estos cromosomas en individuos de una misma familia. Sin embargo, aportamos dos casos de una familia con una microdelecion y una microduplicacion inversa, detectados mediante array-CGH, no descritos hasta el momento. Dicha tecnica puede ofrecer una aproximacion diagnostica y pronostica en cuanto a la evolucion y ofertar consejo genetico.

Low rates of mother-to-child transmission of HIV-1 and risk factors for infection in Spain: 2000-2007.

BACKGROUND: The objective of the study was to describe temporal patterns in the management of HIV-1 infected women and their newborns and the changes over time in the mother-to-child transmission (MTCT) rates and risk factors. METHODS: A multicenter prospective observational study was performed in Madrid, Spain, from 2000 to 2007. Cohort period 1 (CP1) included births in 2000-2003 and cohort period 2 (CP2) included births in 2004-2007. RESULTS: Of the 803 HIV-infected women and their infants, 427 were in the CP1 and 376 in CP2. Almost all CP2 women received highly active antiretroviral therapy. More women in CP2 received antiretroviral treatment for ≥16 weeks during pregnancy (72.0% in CP1 vs. 84.8% in CP2; P < 0.001). Overall, no differences in trends in mode of delivery were observed. The proportion of women with vaginal deliveries who had undetectable viral loads increased from 31.1% in CP1 to 42.7% in CP2 (P = 0.02). Thirteen children (1.6%, 95% confidence interval: 0.68-2.55) were HIV-1 infected by MTCT. No changes in the rates of infection were observed over time. All the cases of MTCT occurred when antiretroviral treatment was not given or was given for <16 weeks during pregnancy. CONCLUSIONS: Low MTCT rates were observed over time. Lack of timely provision of antiretroviral drugs was the main limitation to develop all preventive interventions available nowadays. Nonsustained control of viral load could be associated with residual transmission.

Sortin2 enhances endocytic trafficking towards the vacuole in Saccharomyces cerevisiae

BACKGROUND: A highly regulated trafficking of cargo vesicles in eukaryotes performs protein delivery to a variety of cellular compartments of endomembrane system. The two main routes, the secretory and the endocytic pathways have pivotal functions in uni- and multi-cellular organisms. Protein delivery and targeting includes cargo recognition, vesicle formation and fusion. Developing new tools to modulate protein trafficking allows better understanding the endomembrane system mechanisms and their regulation. The compound Sortin2 has been described as a protein trafficking modulator affecting targeting of the vacuolar protein carboxypeptidase Y (CPY), triggering its secretion in Saccharomyces cerevisiae. RESULTS: A reverse chemical-genetics approach was used to identify key proteins for Sortin2 bioactivity. A genome-wide Sortin2 resistance screen revealed six yeast deletion mutants that do not secrete CPY when grown at Sortin2 condition where the parental strain does: met18, sla1, clc1, dfg10, dpl1 and yjl175w. Integrating mutant phenotype and gene ontology annotation of the corresponding genes and their interactome pointed towards a high representation of genes involved in the endocytic process. In wild type yeast endocytosis towards the vacuole was faster in presence of Sortin2, which further validates the data of the genome-wide screen. This effect of Sortin2 depends on structural features of the molecule, suggesting compound specificity. Sortin2 did not affect endocytic trafficking in Sortin2-resistant mutants, strongly suggesting that the Sortin2 effects on the secretory and endocytic pathways are linked. CONCLUSIONS: Overall, the results reveal that Sortin2 enhances the endocytic transport pathway in Saccharomyces cerevisiae. This cellular effect is most likely at the level where secretory and endocytic pathways are merged. Them Sortin2 specificity over the endomembrane system places it as a powerful biological modulator for cell biology.

[Epidemiological surveillance of vertically-transmitted Chagas disease at three maternity hospitals in the Valencian Community]. / Vigilancia epidemiológica de la transmisión vertical de la enfermedad de Chagas en tres maternidades de la Comunidad Valenciana.

INTRODUCTION AND AIM: Immigration to Spain of Latin Americans with Chagas disease in its indeterminate phase could result in vertical transmission of the disease or transmission by transfusion or organ transplantation. To ascertain the magnitude of this problem, we investigated the prevalence of bearers among women who gave birth in 3 state maternity hospitals in the Valencian Community and the incidence of vertical transmission. PATIENTS AND METHODS: An immunoprecipitation test to detect anti-Trypanosoma cruzi antibodies was carried out on 624 pregnant Latin American women. In positive cases, indirect immunofluorescence and PCR analysis were performed on mothers. In addition, a microhematocrit and PCR analysis were performed on the newborns of these mothers, and immune precipitation was carried out from age 7 months. Chagas-positive mothers were referred for outpatient care at the hospital internal medicine departments. Percentage of positive serology was calculated for the total number of patients and by country of origin. RESULTS: A total of 29 women (4.8%; 95% CI, 3.1-6.3) were Chagas-positive; all were asymptomatic and PCR-negative. None of their children were positive to the tests performed. Bolivian women were the most frequently affected: 24 out of 137 (17.5%; 95% CI, 11.2-23.9) DISCUSSION: The high prevalence of Chagas disease in the Latin American immigrant population has raised awareness of this disease among professionals involved in the study and treatment of this illness. Further epidemiological studies are needed to establish the feasibility of universal detection programs in this population.

Full breastfeeding and hospitalization as a result of infections in the first year of life.

OBJECTIVE: Our objective was to assess the effect of breastfeeding on the probability of hospitalization as a result of infectious processes during the first year of life METHODS: We followed 1385 infants from birth to age 1 year between 1996 and 1999. Recruitment and data collection were done at the 6-month well-infant visit under the National Child Health Program. Full breastfeeding, hospital admission, and other relevant variables related to the delivery, infant, mother, health services system, and sociologic aspects were recorded. The statistical analysis included Kaplan-Meier test, Cox regression to obtain the hazard ratio, and the adjusted attributable risk. RESULTS: Full breastfeeding at discharge after delivery and at 3, 4, and 6 months of age were 85%, 52%, 41%, and 15%, respectively; 78 hospital admissions as a result of infections were recorded (38 respiratory tract, 16 gastrointestinal tract). Mean age at admission was 4.1 months. After estimating the attributable risk, it was found that 30% of hospital admissions would have been avoided for each additional month of full breastfeeding. Seemingly, 100% of full breastfeeding among 4-month-old infants would avoid 56% of hospital admissions in infants who are younger than 1 year. CONCLUSIONS: On the basis of the present data, we conclude that full breastfeeding would lower the risk for hospital admission as a result of infections among infants who are younger than 1 year within an industrialized country.

Microdeleción y microduplicación inversa de presentación familiar con array-CGH / Familial presentation of microdeletion and inverted microduplication with array-CGH

Introducción. A lo largo de los años se han logrado avances en torno a la genética; tras la reacción en cadena de la polimerasa y las técnicas de secuenciación masiva, la técnica array-CGH (comparative genomic hybridization) ha contribuido a mejorar los procedimientos genéticos. Actualmente está consiguiendo una resolución de hasta 200 kb en el genoma humano. Casos clínicos. Se presentan dos hermanas con retraso en los hitos del desarrollo y fenotipo característico con estudio inicial de cariotipo y de regiones subteloméricas normales. Posteriormente, mediante array-CGH se detectó en cada una una deleción y una duplicación diferentes, fruto de una translocación equilibrada paterna. En ambas, siendo fruto de una misma translocación, muestra diferente expresión genética y fenotípica. Conclusiones. La precisión conseguida mediante el array-CGH está permitiendo correlacionar mínimas ganancias o pérdidas del genoma con la clínica. En el cromosoma 3 se encuentran codificados genes fundamentales en el desarrollo neurológico (contactinas, proteínas moduladoras de neurotransmisores, etc.), y en el cromosoma 10, proteínas implicadas en la apoptosis y proteínas reguladoras de la transcripción. En la bibliografía se han descrito el síndrome de deleción del cromosoma 3 y la monosomía 10. Igualmente, hay descritos reordenamientos entre estos cromosomas en individuos de una misma familia. Sin embargo, aportamos dos casos de una familia con una microdeleción y una microduplicación inversa, detectados mediante array-CGH, no descritos hasta el momento. Dicha técnica puede ofrecer una aproximación diagnóstica y pronóstica en cuanto a la evolución y ofertar consejo genético (AU)

Introduction. Over the years the field of genetics has advanced significantly. Following the polymerase chain reaction and mass sequencing techniques, the array-CGH technique (comparative genomic hybridization) has helped to improve genetic procedures. A resolution of up to 200 kb is currently being accomplished in the human genome. Case reports. We report the case of two sisters with delays in developmental milestones and a characteristic phenotype with normal results from initial studies of the karyotype and subtelomeric regions. Array-CGH was later used to detect a deletion and duplication that were different in each of the sisters, this being the result of a balanced paternal translocation. In the two cases, despite being the result of the same translocation, the genetic and phenotype expression were different. Conclusions. The precision achieved by means of array-CGH is making it possible to establish a correlation between minimum gains or losses of the genome and the clinical features. Chromosome 3 codes for genes that play a fundamental role in neurological development (contactins, neurotransmitter modulator proteins, etc.) and chromosome 10 codes for proteins involved in apoptosis and proteins regulating transcription. In the literature there have been reports of chromosome 3 deletion syndrome and monosomy 10. Likewise, there are also descriptions of rearrangements between these chromosomes in individuals from the same family. Nevertheless, we describe two cases of a family with a microdeletion and an inverted microduplication, detected by means of array-CGH, that have not been reported to date. This technique can provide a diagnostic and prognostic approximation as regards development and offer genetic counselling (AU)