20 research outputs found

    The Role of Respiratory Viruses in Children with Ataxia-Telangiectasia

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    Background: The impact of respiratory virus infection in patients diagnosed with ataxia-telangiectasia (A-T) has not been well studied. Methods: A prospective case control study was performed at a National Reference Unit for Primary Immunodeficiency in Spain (from November 2018 to July 2019), including patients younger than 20 years. Symptom questionnaires and nasopharyngeal swabs from multiple respiratory viruses' polymerase chain reaction were collected monthly, and between visits in case of symptoms. Results: Twenty-two individuals were included (11 patients; 11 controls); 164 samples were obtained (81 patients; 84 controls). Patients presented respiratory symptoms more frequently compared with controls (26.5% vs. 3.5%; p < 0.01). Viral detection was observed in 23 (27.3%) episodes in patients and in 15 (17.8%) episodes in controls (p = 0.1). Rhinovirus was the most frequent virus in patients and controls (60% and 53.3%, respectively). Episodes with positive viral detection had associated symptoms in 54% of patients and 18% of controls (p = 0.07). However, patients with A-T presented a similar rate of symptoms during episodes with positive and negative viral detection (26% vs. 27%). The median points given for each questionnaire during symptomatic episodes with negative viral detection were 13/23 points, and during symptomatic positive detection, 7.5/23 points (p = 0.1). In the control group, all but two were asymptomatic during positive viral episodes (score: 2/23 and 3/23 points). Symptomatic episodes, with either positive or negative viral detection, were associated with lower IgA and higher IgM titers and higher CD8+ counts (p < 0.05), particularly when these episodes were moderate/severe. Conclusions: Patients with A-T more frequently present symptomatic viral infections than controls, especially those with lower IgA and higher IgM titers and higher CD8+ counts.This study was supported by the Spanish Ministry of Science and Innovation—Instituto de Salud Carlos III, and Fondos FEDER of the EU, Grant No. PI18CIII/00372 (Fondo de Investigaciones Sanitarias—Spanish Health Research Fund (ISCIII)).S

    Severe vaccine-acquired rotavirus infection in an infant with primary intestinal lymphangiectasia

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    Clinical letterTo date, severe cases of vaccine-related rotavirus infection have only been reported in infants with severe combined immunodeficiency after immunization. We describe the first case of vaccine-related rotavirus gastroenteritis in an infant with intestinal lymphangiectasia.S

    Primary and Secondary Immunodeficiency Diseases in Oncohaematology: Warning Signs, Diagnosis, and Management

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    Background: Immunodeficiencies (ID), in particular primary immunodeficiencies (PID), are often associated with haematological manifestations, such as peripheral cytopenias or lymphoproliferative syndromes. Early diagnosis and management have significant prognostic implications. Secondary immunodeficiencies (SID) may also be induced by oncohaematological diseases and their treatments. Haematologists and oncologists must therefore be aware of the association between blood disorders and cancer and ID, and be prepared to offer their patients appropriate treatment without delay. Our aim was to define the warning signs of primary and secondary IDs in paediatric and adult patients with oncohaematological manifestations.Methods: A multidisciplinary group of six experts (2 haematologists, 2 immunologists, and 2 paediatricians specializing in ID) conducted a literature review and prepared a document based on agreements reached an in-person meeting. An external group of 44 IDs specialists from all over Spain assessed the document and were consulted regarding their level of agreement.Results: This document identifies the haematological and extra-haematological diseases that should prompt a suspicion of PIDs in adults and children, in both primary care and haematology and oncology departments. Cytopenia and certain lymphoproliferative disorders are key diagnostic pointers. The diagnosis must be based on a detailed clinical history, physical exploration, complete blood count and standard laboratory tests. The immunological and haematological tests included in the diagnostic process will depend on the care level. Patients who are candidates for immunoglobulin replacement therapy must be carefully selected, and treatment should be offered as soon as possible to avoid the development of complications. Finally, this document recommends procedures for monitoring these patients.Conclusions: This document combines scientific evidence with the opinion of a broad panel of experts, and emphasizes the importance of an early diagnosis and treatment to avoid complications. The resulting document is a useful tool for primary care physicians and specialists who see both adult and paediatric patients with oncohaematological diseases

    Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

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    The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

    Evidence of spatial clustering of childhood acute lymphoblastic leukemia cases in Greater Mexico City: report from the Mexican Inter-Institutional Group for the identification of the causes of childhood leukemia

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    BackgroundA heterogeneous geographic distribution of childhood acute lymphoblastic leukemia (ALL) cases has been described, possibly, related to the presence of different environmental factors. The aim of the present study was to explore the geographical distribution of childhood ALL cases in Greater Mexico City (GMC).MethodsA population-based case-control study was conducted. Children &lt;18 years old, newly diagnosed with ALL and residents of GMC were included. Controls were patients without leukemia recruited from second-level public hospitals, frequency-matched by sex, age, and health institution with the cases. The residence address where the patients lived during the last year before diagnosis (cases) or the interview (controls) was used for geolocation. Kulldorff’s spatial scan statistic was used to detect spatial clusters (SCs). Relative risks (RR), associated p-value and number of cases included for each cluster were obtained.ResultsA total of 1054 cases with ALL were analyzed. Of these, 408 (38.7%) were distributed across eight SCs detected. A relative risk of 1.61 (p&lt;0.0001) was observed for the main cluster. Similar results were noted for the remaining seven ones. Additionally, a proximity between SCs, electrical installations and petrochemical facilities was observed.ConclusionsThe identification of SCs in certain regions of GMC suggest the possible role of environmental factors in the etiology of childhood ALL

    COVID-19 Pandemic. What have we learned?

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    Desde que en marzo de 2020 se declarara la pandemia COVID-19 hemos aprendido muchas cosas del coronavirus SARS-CoV-2, y de su papel en la enfermedad pediátrica. Los niños se infectan en un porcentaje bastante similar a los adultos, si bien en la mayoría de las ocasiones sufren cuadros leves o asintomáticos. Alrededor de un 1% de infectados precisan hospitalización, menos de un 0,02% precisan cuidados intensivos, y la mortalidad es muy baja y generalmente en niños con comorbilidades. Los cuadros clínicos más habituales son infecciones respiratorias de vías altas o bajas, cuadros gastrointestinales y con mayor gravedad el síndrome inflamatorio multisistémico (MIS-C). La mayoría de los episodios no precisan tratamiento, salvo el MIS-C. El remdesivir se ha empleado generalmente como tratamiento compasivo y aún está por definir su papel. El recién nacido puede infectarse, si bien la transmisión vertical es muy baja (<1%), y se ha demostrado que el bebé puede cohabitar de manera segura con su madre y recibir lactancia materna. En general las infecciones neonatales han sido leves. La atención primaria ha soportado una parte muy importante del manejo de la pandemia en pediatría. Se han producido numerosos daños colaterales derivados de la dificultad de acceso a la asistencia y del aislamiento que han sufrido los niños. La salud mental de la población pediátrica se ha visto seriamente afectada. A pesar de que se ha demostrado que la escolarización no ha supuesto un incremento de los contagios, sino más bien todo lo contrario. Es fundamental seguir manteniendo las medidas de seguridad que permitan hacer de las escuelas un lugar seguro, tan necesario no solo para la educación infantil, sino para su salud en general.Since the COVID-19 pandemic was declared in March 2020, we have learned a lot about the SARS-CoV-2 coronavirus, and its role in pediatric pathology.Children are infected in a rate quite similar to adults, although in most cases they suffer mild or asymptomatic symptoms. Around 1% of those infected require hospitalization, less than 0.02% require intensive care, and mortality is very low and generally in children with comorbidities. The most common clinical diagnoses are upper or lower respiratory infections, gastrointestinal infection and, more seriously, multisystemic inflammatory syndrome (MIS-C). Most episodes do not require treatment, except for MIS-C. Remdesivir has been widely used as a compassionate treatment and its role has yet to be defined.The newborn can become infected, although vertical transmission is very low (<1%) and it has been shown that the baby can safely cohabit with its mother and be breastfed. In general, neonatal infections have been mild.Primary care has supported a very important part of the management of the pandemic in pediatrics. There has been numerous collateral damage derived from the difficulty of access to care and the isolation suffered by children. The mental health of the pediatric population has been seriously affected. Although it has been shown that schooling has not led to an increase in infections, but rather the opposite. It is essential to continue maintaining the security measures that make schools a safe place, so necessary not only for children's education, but for their health in general.Sin financiación2.377 JCR (2021) Q3, 77/130 Pediatrics0.312 SJR (2021) Q3, 180/320 Pediatrics, Perinatology and Child HealthNo data IDR 2020UE

    Antibiotic Utilization in Hospitalized Children with Bronchiolitis: A Prospective Study Investigating Clinical and Epidemiological Characteristics at a Secondary Hospital in Madrid (2004-2022)

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    Bronchiolitis is a viral respiratory infection, with respiratory syncytial virus (RSV) being the most frequent agent, requiring hospitalization in 1% of affected children. However, there continues to be a noteworthy incidence of antibiotic prescription in this setting, further exacerbating the global issue of antibiotic resistance. This study, conducted at Severo Ochoa Hospital in Madrid, Spain, focused on antibiotic usage in children under 2 years of age who were hospitalized for bronchiolitis between 2004 and 2022. In that time, 5438 children were admitted with acute respiratory infection, and 1715 infants (31.5%) with acute bronchiolitis were included. In total, 1470 (87%) had a positive viral identification (66% RSV, 32% HRV). Initially, antibiotics were prescribed to 13.4% of infants, but this percentage decreased to 7% during the COVID-19 pandemic thanks to adherence to guidelines and the implementation of rapid and precise viral diagnostic methods in the hospital. HBoV- and HAdV-infected children and those with viral coinfections were more likely to receive antibiotics in the univariate analysis. A multivariate logistic regression analysis revealed a statistically independent association between antibiotic prescription and fever > 38 °C (p < 0.001), abnormal chest-X ray (p < 0.001), ICU admission (p = 0.015), and serum CRP (p < 0.001). In conclusion, following guidelines and the availability of rapid and reliable viral diagnostic methods dramatically reduces the unnecessary use of antibiotics in infants with severe bronchiolitis.This research was funded by FIS of the Carlos III Institute, grant numbers PI98/0310, PI06/0532, PI12/0129, PI15CIII/00028, PI18CIII/00009, PI21CIII/00019, and PI21/00377. Grant MSD MISP: IISP 60255.S

    Lung ultrasound for prediction of respiratory support in infants with acute bronchiolitis: A cohort study

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    Objective: Respiratory tract infections are among the most common causes of morbidity and mortality worldwide. Acute bronchiolitis (AB) is the leading cause of hospital admission among infants. Clinical scores have proven to be inaccurate in predicting prognosis. Our aim was to build a score based on findings of lung ultrasound (LU) performed at admission, to stratify patients at risk of needing respiratory support (non-invasive and invasive ventilation). Study design: Prospective, multicenter study including infants 1 cm was the main factor associated to NIV (RR 4.4; [CI95%1.8-10.8]) The LU score built according to the findings on admission showed an AUC: 0.845(CI95%:0.78-0.91). A score ≥3.5 showed a sensitivity of 89.1% (CI95%:78.2-94.9%) and specificity of 56% (CI95%: 45.3-66.1%) CONCLUSIONS: Among infants below 6 months of age admitted with AB, point-of-care LU was a helpful tool to identify patients at risk of needing respiratory support.Sin financiación2.534 JCR (2019) Q2, 33/128 Pediatrics0.927 SJR (2019) Q1, 55/311 Pediatrics, Perinatology and Child HealthNo data IDR 2019UE
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