Does opening a milk bank in a neonatal unit change infant feeding practices? A before and after study

<p>Abstract</p> <p>Background</p> <p>Donor human milk banks are much more than simple centers for collection, storage, processing, and distribution of donor human milk, as they cover other aspects and represent a real opportunity to promote and support breastfeeding. The aim of our study is to assess the impact that opening a human milk bank has had on the proportion of infants receiving exclusive breast milk at discharge and other aspects related to feeding children with birth weight < or = 1500 g or < 32 weeks gestation admitted to the neonatal unit.</p> <p>Methods</p> <p>The study included babies of < or = 1500 g or < 32 weeks gestation. Fifty infants born from February to July in 2006, before the opening of the human milk bank, and 54 born from February to July in 2008, after its opening, met inclusive criteria. We collected data about days of hospital stay, hours of life when feeding was started, hours of life when full enteral feeding was attained, the type of milk received during admission, and the type of feeding on discharge.</p> <p>Results</p> <p>Children born in 2008 commenced feeding 16 hours earlier than those born in 2006 (p = 0.00). The proportion of infants receiving exclusive breast milk at discharge was 54% in 2006 and 56% in 2008 (p = 0.87). The number of days they received their mother's own milk during the first 28 days of life was 24.2 days in 2006, compared to 23.7 days in 2008 (p = 0.70). In 2006, 60% of infants received infant formula at least once in the first 28 days of life, compared to 37% in 2008 (p = 0.01).</p> <p>Conclusions</p> <p>The opening of a donor human milk bank in a neonatal unit did not reduce the proportion of infants exclusively fed with breast milk at discharge, but did reduce the proportion of infants that received infant formula during the first four weeks of life. Also, having donor human milk available enables commencement of enteral feeding earlier.</p

Características del líquido sinovial en pacientes con artritis idiopática juvenil

Introducción: El análisis del líquido sinovial (LS) es una herramienta importante en el diagnóstico de pacientes con artritis idiopática juvenil (AIJ). Pacientes y métodos: Análisis retrospectivo de las características citológicas del LS obtenido de pacientes con AIJ en el periodo 2008-2016. Resultados: Se analizaron 102 LS de 59 pacientes. El 66% fueron mujeres y la forma clínica más frecuente fue la AIJ oligoarticular persistente (52,5%). La mediana de edad al inicio fue de 5 años (RIC 2,4-11,8). El LS generalmente era de características inflamatorias (mediana leucocitos 11.757/mm3; RIC 4.543-18.800) con predominio de polimorfonucleares (PMN, 61%; RIC 30-75). Ocho pacientes (14%) presentaron recuentos inferiores a 2.000 cél/mm3, con predominio de mononucleares (80%), mientras que 3 pacientes (5%) presentaron recuentos superiores a 50.000 cél/mm3, con predominio de PMN (90%). No se encontraron diferencias en los recuentos celulares entre las distintas formas de AIJ. La mediana del recuento de leucocitos de pacientes positivos para ANA fue un 20% inferior a la de niños negativos para ANA (9.340 vs. 11.600/mm3; p = 0,23). La proporción de PMN en LS tendía a aumentar conforme se incrementaba la VSG (p < 0,001) y/o la PCR (p = 0,03). No existe correlación del índice JADAS-10 con el recuento en LS (p = 0,4). El LS en artrocentesis simultáneas de diferentes articulaciones mostró una correlación significativa (p = 0,001). Conclusiones: El LS de pacientes con AIJ generalmente tiene características inflamatorias, aunque un 19% presentó recuentos inferiores a 2.000 o superiores a 50.000 cél/mm3. Los recuentos en pacientes positivos para ANA tendían a ser menores que en los negativos para ANA (no significativo). La proporción de PMN aumentaba con los reactantes.Introduction: Synovial fluid (SF) analysis is an important tool for the diagnosis of patients with juvenile idiopathic arthritis (JIA). Patients and methods: A retrospective analysis was carried out of cytological features of SF samples obtained from patients with JIA during the period 2008-2016. Results: A total of 102 SF samples from 59 patients were analysed. JIA was more common in females (66%). The most frequent form was persistent oligoarticular JIA (52.5%). The median age at onset was 5 years (IQR 2.4-11.8). SF usually showed an inflammatory pattern (median white blood cells count 11,757/mm3; IQR 4,543-18,800), with a predominance of polymorphonuclear (PMN) cells (61%; IQR 30-75). Eight patients (14%) had white blood cells counts of less than 2,000 cells/mm3, with predominance of mononuclear cells (80%), whereas 3 patients (5%) had white blood cells counts higher than 50,000 cells/mm3, with a predominance of PMN cells (90%). Synovial white blood cells count did not show significant differences among the different forms of JIA. The median synovial white blood cells count in ANA-positive patients was 20% lower than in ANA-negative (9,340 vs. 11,600/mm3; P=.23). The proportion of PMN increased with increasing levels of ESR (P<.001) and/or CRP (P=.03). No significant correlation was found between JADAS-10 and synovial white blood cells count (P=.4). SF obtained from different joints in simultaneous arthrocentesis showed a significant correlation P=.001). Conclusion: SF from JIA patients usually had inflammatory characteristics, although 19% of the patients showed white blood cells counts below 2,000cells/mm3 or higher than 50,000cells/mm3. SF cell count was non-significantly lower in ANA-positive patients, and the proportion of PMN increased with increasing levels of ESR/CRP

Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management

Primary immune regulatory disorders (PIRD) are associated with autoimmunity, autoinflammation and/or dysregulation of lymphocyte homeostasis. Autoimmune lymphoproliferative syndrome (ALPS) is a PIRD due to an apoptotic defect in Fas-FasL pathway and characterized by benign and chronic lymphoproliferation, autoimmunity and increased risk of lymphoma. Clinical manifestations and typical laboratory biomarkers of ALPS have also been found in patients with a gene defect out of the Fas-FasL pathway (ALPS-like disorders). Following the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA), we identified more than 600 patients suffering from 24 distinct genetic defects described in the literature with an autoimmune lymphoproliferative phenotype (ALPS-like syndromes) corresponding to phenocopies of primary immunodeficiency (PID) (NRAS, KRAS), susceptibility to EBV (MAGT1, PRKCD, XIAP, SH2D1A, RASGRP1, TNFRSF9), antibody deficiency (PIK3CD gain of function (GOF), PIK3R1 loss of function (LOF), CARD11 GOF), regulatory T-cells defects (CTLA4, LRBA, STAT3 GOF, IL2RA, IL2RB, DEF6), combined immunodeficiencies (ITK, STK4), defects in intrinsic and innate immunity and predisposition to infection (STAT1 GOF, IL12RB1) and autoimmunity/autoinflammation (ADA2, TNFAIP3,TPP2, TET2). CTLA4 and LRBA patients correspond around to 50% of total ALPS-like cases. However, only 100% of CTLA4, PRKCD, TET2 and NRAS/KRAS reported patients had an ALPS-like presentation, while the autoimmunity and lymphoproliferation combination resulted rare in other genetic defects. Recurrent infections, skin lesions, enteropathy and malignancy are the most common clinical manifestations. Some approaches available for the immunological study and identification of ALPS-like patients through flow cytometry and ALPS biomarkers are provided in this work. Protein expression assays for NKG2D, XIAP, SAP, CTLA4 and LRBA deficiencies and functional studies of AKT, STAT1 and STAT3 phosphorylation, are showed as useful tests. Patients suspected to suffer from one of these disorders require rapid and correct diagnosis allowing initiation of tailored specific therapeutic strategies and monitoring thereby improving the prognosis and their quality of life.his work was supported by grants from Fondo de Investigación Sanitaria (FIS-PI16/2053) to LA and LG-G. The project has been co-financed with FEDER funds. ML-N was co-financed by Fondo Social Europeo, Programa Operativo de empleo juvenil (YEI)

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. Diagnostically, a hallmark feature is the presence of increased sister chromatid exchanges (SCEs) on cytogenetic testing. Here, we describe biallelic mutations in TOP3A in ten individuals with prenatal-onset growth restriction and microcephaly. TOP3A encodes topoisomerase III alpha (TopIIIα), which binds to BLM as part of the BTRR complex, and promotes dissolution of double Holliday junctions arising during homologous recombination. We also identify a homozygous truncating variant in RMI1, which encodes another component of the BTRR complex, in two individuals with microcephalic dwarfism. The TOP3A mutations substantially reduce cellular levels of TopIIIα, and consequently subjects’ cells demonstrate elevated rates of SCE. Unresolved DNA recombination and/or replication intermediates persist into mitosis, leading to chromosome segregation defects and genome instability that most likely explain the growth restriction seen in these subjects and in Bloom syndrome. Clinical features of mitochondrial dysfunction are evident in several individuals with biallelic TOP3A mutations, consistent with the recently reported additional function of TopIIIα in mitochondrial DNA decatenation. In summary, our findings establish TOP3A mutations as an additional cause of prenatal-onset short stature with increased cytogenetic SCEs and implicate the decatenation activity of the BTRR complex in their pathogenesis

COVID-19 Severity and Survival over Time in Patients with Hematologic Malignancies: A Population-Based Registry Study

Mortality rates for COVID-19 have declined over time in the general population, but data in patients with hematologic malignancies are contradictory. We identified independent prognostic factors for COVID-19 severity and survival in unvaccinated patients with hematologic malignancies, compared mortality rates over time and versus non-cancer inpatients, and investigated post COVID-19 condition. Data were analyzed from 1166 consecutive, eligible patients with hematologic malignancies from the population-based HEMATO-MADRID registry, Spain, with COVID-19 prior to vaccination roll-out, stratified into early (February–June 2020; n = 769 (66%)) and later (July 2020–February 2021; n = 397 (34%)) cohorts. Propensity-score matched non-cancer patients were identified from the SEMI-COVID registry. A lower proportion of patients were hospitalized in the later waves (54.2%) compared to the earlier (88.6%), OR 0.15, 95%CI 0.11–0.20. The proportion of hospitalized patients admitted to the ICU was higher in the later cohort (103/215, 47.9%) compared with the early cohort (170/681, 25.0%, 2.77; 2.01–3.82). The reduced 30-day mortality between early and later cohorts of non-cancer inpatients (29.6% vs. 12.6%, OR 0.34; 0.22–0.53) was not paralleled in inpatients with hematologic malignancies (32.3% vs. 34.8%, OR 1.12; 0.81–1.5). Among evaluable patients, 27.3% had post COVID-19 condition. These findings will help inform evidence-based preventive and therapeutic strategies for patients with hematologic malignancies and COVID-19 diagnosis.Depto. de MedicinaFac. de MedicinaTRUEFundación Madrileña de Hematología y HemoterapiaFundación Leucemia y LinfomaAsociación Madrileña de Hematología y Hemoterapiapu

The Human Phenotype Ontology in 2024: phenotypes around the world.

The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs

Combined fit to the spectrum and composition data measured by the Pierre Auger Observatory including magnetic horizon effects

The measurements by the Pierre Auger Observatory of the energy spectrum and mass composition of cosmic rays can be interpreted assuming the presence of two extragalactic source populations, one dominating the flux at energies above a few EeV and the other below. To fit the data ignoring magnetic field effects, the high-energy population needs to accelerate a mixture of nuclei with very hard spectra, at odds with the approximate E$^{-2}$ shape expected from diffusive shock acceleration. The presence of turbulent extragalactic magnetic fields in the region between the closest sources and the Earth can significantly modify the observed CR spectrum with respect to that emitted by the sources, reducing the flux of low-rigidity particles that reach the Earth. We here take into account this magnetic horizon effect in the combined fit of the spectrum and shower depth distributions, exploring the possibility that a spectrum for the high-energy population sources with a shape closer to E$^{-2}$ be able to explain the observations

Studies of the mass composition of cosmic rays and proton-proton interaction cross-sections at ultra-high energies with the Pierre Auger Observatory

In this work, we present an estimate of the cosmic-ray mass composition from the distributions of the depth of the shower maximum (Xmax) measured by the fluorescence detector of the Pierre Auger Observatory. We discuss the sensitivity of the mass composition measurements to the uncertainties in the properties of the hadronic interactions, particularly in the predictions of the particle interaction cross-sections. For this purpose, we adjust the fractions of cosmic-ray mass groups to fit the data with Xmax distributions from air shower simulations. We modify the proton-proton cross-sections at ultra-high energies, and the corresponding air shower simulations with rescaled nucleus-air cross-sections are obtained via Glauber theory. We compare the energy-dependent composition of ultra-high-energy cosmic rays obtained for the different extrapolations of the proton-proton cross-sections from low-energy accelerator data