Independent effects of long and short-term exposures to non-optimal increased temperature on mortality.

Although the short-term heat effects are well-established, longer-term effects, beyond those, have recently received attention, in the context of climate change. Our study aims to investigate the potential effects of long-term exposure to non-optimal warm period temperatures on all-cause mortality in four large regions in the UK, Norway, Italy, and Greece. Daily all-cause mortality counts from 1996 to 2018 for four European NUTS-2 regions including 52-662 small areas were collected and associated with spatiotemporal temperature estimates.

Determination of Lead in Bee Products by Solid Surface Fluorescence Using Complexation and Coacervation at Room Temperature Processes. An Environmental Friendly Methodology.

An accurate, economic and green methodology for Pb(II) monitoring in bee products is proposed. Complexed metal traces were preconcentrated on Nylon membranes using the coacervation phenomenon based on room temperature reaction between the cationic surfactant hexadecyltrimethylammonium bromide and the bile salt sodium cholate. The increase in solid surface fluorescence signal of dyes 8-hydroxyquinoleine and o-phenanthroline due to Pb(II) presence was used for the metal quantification.

Burden of Respiratory Syncytial Virus in the European Union: estimation of RSV-associated hospitalizations in children under 5 years.

Background: No overall estimate of respiratory syncytial virus (RSV)-associated hospitalizations in children aged under 5 years has been published for the European Union (EU). We aimed to estimate the RSV hospitalization burden in children aged under 5 years in EU countries and Norway, by age group.

Methods: We collated national RSV-associated hospitalization estimates calculated using linear regression models via the RESCEU project for Denmark, England, Finland, Norway, the Netherlands, and Scotland, 2006-2018.

Sonochemical Synthesized Manganese Oxide Nanoparticles as Fluorescent Sensor for Selenium (IV) Quantification. Application to Food and Drink Samples.

Manganese oxide nanoparticles (MnO Nps), sonochemical synthesized and characterized in our laboratory, are proposed as fluorescent sensor for selenium (Se) determination. The new methodology has been developed based on the enhancing effect of the Se(IV) on fluorescent emission of MnO Nps. Experimental variables that influence on fluorimetric sensitivity were optimized.

Copper Traces Quantification in Bee's Products by Solid Surface Fluorescence. A Green Analytical Proposal.

A new methodology based on the fluorescence of Cu(II) ternary system with o-phenanthroline (o-Phen) and eosin (Eo) dyes is proposed. The metal was selectively retained on Nylon membranes and the solid surface fluorescence (SSF) was used for anayte quantification. Experimental variables that influence the formation of Cu(II)-o-Phen-eo system and retention step were studied and optimized.

Risk factors associated with severe disease in respiratory syncytial virus infected children under 5 years of age.

Objective: To evaluate risk factors for severe disease in children under 59 months of age hospitalized with respiratory syncytial virus (RSV) infection.

Study Design: We prospectively enrolled 1,096 cases of laboratory confirmed RSV infection during three consecutive RSV seasons in 2015-2018. Potential risk factors for severe disease were retrieved through patient questionnaires and linkage to national health registries.

Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease.

Despite recent attention to increasing diversity in clinical genomics research, researchers still struggle to recruit participants from varied sociodemographic backgrounds. We examined the experiences of parents from diverse backgrounds with enrolling their children in clinical genomics research on rare diseases. We explored the barriers and facilitators parents encountered and possible impacts of sociodemographic factors on their access to research.

Age-Specific Estimates of Respiratory Syncytial Virus-Associated Hospitalizations in 6 European Countries: A Time Series Analysis.

Background: Knowledge on age-specific hospitalizations associated with RSV infection is limited due to limited testing, especially in older children and adults in whom RSV infections are not expected to be severe. Burden estimates based on RSV coding of hospital admissions are known to underestimate the burden of RSV. We aimed to provide robust and reliable age-specific burden estimates of RSV-associated hospital admissions based on data on respiratory infections from national health registers and laboratory-confirmed cases of RSV.

Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics.

Given the limited therapeutic options for most rare diseases diagnosed through genomic sequencing (GS) and the proportion of patients who remain undiagnosed even after GS, it is important to characterize a broader range of benefits and potential harms of GS from the perspectives of families with diverse sociodemographic characteristics. We recruited parents of children enrolled in the Undiagnosed Diseases Network. Parents completed an in-depth interview, and we conducted a comparative content analysis of the data.

Variable clinical severity in TANGO2 deficiency: Case series and literature review.

Biallelic pathogenic variants in the TANGO2 (transport and Golgi organization 2 homolog) gene have been identified as causing a rare metabolic disorder characterized by susceptibility to recurrent rhabdomyolysis, lactic acidosis, encephalopathy, and life-threatening tachyarrhythmias. Recently published reports suggest variable clinical severity and phenotypes. This study details five new patients from two families with biallelic pathogenic variants in the TANGO2 gene identified by whole exome sequencing and includes the largest number of affected individuals from a single family reported to date.

Compound heterozygous variants in progressive myoclonus epilepsy.

KCTD7 is a member of the potassium channel tetramerization domain-containing protein family and has been associated with progressive myoclonic epilepsy (PME), characterized by myoclonus, epilepsy, and neurological deterioration. Here we report four affected individuals from two unrelated families in which we identified compound heterozygous single nucleotide variants through exome sequencing. RNAseq was used to detect a non-annotated splicing junction created by a synonymous variant in the second family.

Respiratory Syncytial Virus-Associated Hospital Admissions in Children Younger Than 5 Years in 7 European Countries Using Routinely Collected Datasets.

Background: Respiratory syncytial virus (RSV) is a leading cause of respiratory tract infection (RTI) in young children. Registries provide opportunities to explore RSV epidemiology and burden.

Methods: We explored routinely collected hospital data on RSV in children aged < 5 years in 7 European countries.

Cardiac sympathetic denervation for conventional treatment refractory arrhythmias.

Objetivo: La denervación simpática cardiaca izquierda (DSCI) por toracoscopia se ha convertido en una alternativa terapéutica para el manejo de arritmias cardíacas refractarias al tratamiento convencional en pacientes con cardiopatía estructural, principalmente isquémicos, y enfermedades hereditarias asociadas con muerte súbita como el síndrome de QT largo. Generalmente se realiza en quienes manifiestan episodios recurrentes de arritmias ventriculares o incluso tormenta eléctrica a pesar del tratamiento convencional. El objetivo de este estudio es mostrar la experiencia de esta institución con la DSCI en pacientes refractarios al manejo convencional y los resultados derivados de su aplicación.

Tolfenamic acid on-line preconcentration strategy on carbon nanotubes minicolumn with fluorimetric detection.

Nonsteroidal anti-inflammatory agents (NSAIDs) are a group of pharmaceuticals considered one of the most popular drugs used in clinical practice applied to the treatment of acute and chronic conditions. Some pharmaceuticals products are excreted reaching the environment and altering the balance of ecosystems. This work proposes a new fluorimetric flow injection (FI) methodology for the NSAID tolfenamic acid quantification based on the quenching effect of the analyte on fluorescent signal of bovine serum albumin fluorophore.

Cardiac sympathetic denervation for conventional treatment refractory arrhythmias.

Objective: Cardiac sympathetic denervation (CSD) using video-assisted thoracoscopy is a therapeutic alternative for cardiac arrhythmias refractory to conventional treatment in patients with ventricular structural heart disease, mainly due to ischemia, and in patients with hereditary conditions associated with sudden death such as long QT syndrome. In general, it is performed in cases with recurrent episodes of ventricular tachycardia or electrical storm, in spite of conventional treatment. The objective of this study is to show the experience of this institution with DSCI in refractory patients to conventional management and the results derived from its application.

The porcine biomodel in translational medical research: From biomodel to human lung transplantation.

Introduction: Human and porcine anatomy are comparable. In consequence, the porcine biomodel has the potential to be implemented in the training of surgical professionals in areas such as solid organ transplantation. Objectives: We described the procedures and findings obtained in the experiments of translational respiratory medicine with the porcine biomodel, within an experimentation animal laboratory, and we present a comparative review between human and porcine lung.

Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.

Background: Despite growing evidence of diagnostic yield and clinical utility of whole exome sequencing (WES) in patients with undiagnosed diseases, there remain significant cost and reimbursement barriers limiting access to such testing. The diagnostic yield and resulting clinical actions of WES for patients who previously faced insurance coverage barriers have not yet been explored.

Methods: We performed a retrospective descriptive analysis of clinical WES outcomes for patients facing insurance coverage barriers prior to clinical WES and who subsequently enrolled in the Undiagnosed Diseases Network (UDN).

Determination of lead traces in honey using a fluorimetric method.

Heavy traces metals may be present in honey being their detection very important for the quality control and it also serves as an indicator of environmental pollution. A new methodology for lead traces determination has been developed based on the quenching effect of the metal on fluorescent emission of 8-hydroxyquinoline and o-phenanthroline at λ = 360 nm (λ = 250 nm). Experimental variables that influence on fluorimetric sensitivity were optimized by uni-variation assays.

A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.

There are approximately 7,000 rare diseases affecting 25-30 million Americans, with 80% estimated to have a genetic basis. This presents a challenge for genetics practitioners to determine appropriate testing, make accurate diagnoses, and conduct up-to-date patient management. Exome sequencing (ES) is a comprehensive diagnostic approach, but only 25%-41% of the patients receive a molecular diagnosis.

Sleeve pneumonectomy and carinal resection for management of primary adenoid cystic tumor of the lung with carinal extension: Report of two cases.

Adenoid cystic carcinoma is a rare tumor of low frequency, low grade malignancy and slow growth originating from the major and minor salivary glands. Its primary pulmonary presentation is very rare, it can manifest with central airway obstruction and extensive lung involvement. Although it is slow growing, it has a tendency to local recurrence and late hematogenous metastases.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

ATP synthase, H transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly ATP5D) is a subunit of mitochondrial ATP synthase and plays an important role in coupling proton translocation and ATP production. Here, we describe two individuals, each with homozygous missense variants in ATP5F1D, who presented with episodic lethargy, metabolic acidosis, 3-methylglutaconic aciduria, and hyperammonemia. Subject 1, homozygous for c.