Development and internal-external cross-validation of a patient-reported definition for acute calcium pyrophosphate crystal arthritis.

Objective: To develop and validate a patient-reported definition of acute calcium pyrophosphate (CPP) crystal arthritis in people with crystal-proven CPP deposition (CPPD) disease.

Methods: Consecutive patients with crystal-proven CPPD disease from seven centres across four countries were enrolled in a cross-sectional study. In each centre, patient-reported outcomes on the features of acute CPP crystal arthritis were collected.

Sex Differences in Transthyretin Cardiac Amyloidosis: Unraveling the Complexities in Epidemiology, Pathophysiology, Diagnosis, and Treatment.

Transthyretin cardiac amyloidosis (ATTR-CA) is characterised by the deposition of transthyretin amyloid fibrils in the heart. ATTR-CA affects both men and women although there is evidence of sex differences in prevalence and clinical presentation. PURPOSE OF REVIEW: This review paper aims to comprehensively examine and synthesise the existing literature on sex differences in ATTR-CA.

Sudden cardiac death triggered by minimal alcohol consumption in the context of novel PPA2 mutations in 2 unrelated families.

Biallelic variants in PPA2 gene cause a rare but lethal mitochondrial disorder. We describe the first four cases reported in Spain of PPA2 disease in two unrelated families. We have conducted a revision of the clinical history, necropsies, and postmortem genetic testing from probands, and clinical evaluation, genetic testing and blood transcript analysis in family members.

Toward Telemonitoring in Immune-Mediated Inflammatory Diseases: Protocol for a Mixed Attention Model Study.

Background: Rheumatic and musculoskeletal diseases (RMDs) are chronic diseases that may alternate between asymptomatic periods and flares. These conditions require complex treatments and close monitoring by rheumatologists to mitigate their effects and improve the patient's quality of life. Often, delays in outpatient consultations or the patient's difficulties in keeping appointments make such close follow-up challenging.

Mouth Breathing and Its Impact on Atypical Swallowing: A Systematic Review and Meta-Analysis.

The aim of this systematic review is the assessment of the effect of mouth breathing on the prevalence of tongue thrust. The review was performed according to the PRISMA 2020 checklist guidelines, and the protocol was registered with PROSPERO (CRD42022339527). The inclusion criteria were the following: studies of clinical trials and cross-sectional and longitudinal descriptive studies that evaluate the appearance of tongue thrust in patients with mouth breathing; healthy subjects of any age, race or sex; and studies with a minimum sample group of five cases.

Molecular diagnosis of cystic fibrosis by RNA obtained from nasal epithelial cells.

Background: The diagnosis of cystic fibrosis (CF) is established when characteristic clinical signs are coupled with biallelic CFTR pathogenic variants. No previously reported non-canonical splice site variants have to be considered as variants of uncertain significance unless their effect on splicing has been validated.

Methods: Two variants identified by next-generation sequencing were evaluated.

Identification of a HIV-1 circulating BF1 recombinant form (CRF75_BF1) of Brazilian origin that also circulates in Southwestern Europe.

Introduction: The high recombinogenic potential of HIV-1 has resulted in the generation of countless unique recombinant forms (URFs) and around 120 reported circulating recombinant forms (CRFs). Here we identify through analyses of near full-length genomes (NFLG) a new HIV-1 CRF derived from subtypes B and F1.

Methods: HIV-1 protease-reverse transcriptase (Pr-RT) sequences were obtained by RT-PCR amplification from plasma RNA.

The importance of prevalence and pre-test probability on the microbiological diagnosis of SARS-CoV-2: the case of Spain in 2020.

Objective: The aim of this work was to estimate the conditioned probability for the diagnosis of SARS-CoV-2 infection with reverse transcription polymerase chain reaction (RT-PCR), viral antigen rapid diagnostic tests (Ag-RDT), and antibody detection tests depending on the prevalence in the specific healthcare settings in Spain in 2020, and on the pre-test probability (PTP) according to the clinical situation, age and unknown or close contacts of the patient.

Methods: Performance parameters of tests were obtained from literature. Prevalence data and PTP were obtained from Spanish sources and a survey, respectively.

Prenatal genetic diagnosis of monogenic diseases.

Prenatal genetic diagnosis of monogenic diseases is a process involving the use of a variety of molecular techniques for the molecular characterization of a potential monogenic disease in the fetus during pregnancy. Prenatal genetic diagnosis can be performed through invasive and non-invasive methods. A distinction must be made between "NIPD" (non-invasive prenatal diagnosis), which is considered to be diagnostic, from "NIPT" (non-invasive prenatal test), which is a screening test that requires subsequent confirmation by invasive methods.

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.

ATP1A3 encodes the α3 subunit of the sodium-potassium ATPase, one of two isoforms responsible for powering electrochemical gradients in neurons. Heterozygous pathogenic ATP1A3 variants produce several distinct neurological syndromes, yet the molecular basis for phenotypic variability is unclear. We report a novel recurrent variant, ATP1A3(NM_152296.

Reliability and Validity of Computerized Adventitious Respiratory Sounds in People with Bronchiectasis.

Background: Computerized adventitious respiratory sounds (ARS), such as crackles and wheezes, have been poorly explored in bronchiectasis, especially their measurement properties. This study aimed to test the reliability and validity of ARS in bronchiectasis. Methods: Respiratory sounds were recorded twice at 4 chest locations on 2 assessment sessions (7 days apart) in people with bronchiectasis and daily sputum expectoration.

Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain.

Background: The p.Glu109Lys variant (Glu89Lys) is a rare cause of hereditary transthyretin amyloidosis (ATTRv) for which clinical spectrum remains unresolved. We sought to describe the clinical characteristics and outcomes of ATTR Glu89Lys amyloidosis and assess a potential founder effect in Spain.

Impact of SARS-Cov-2 infection in patients with hypertrophic cardiomyopathy: results of an international multicentre registry.

Aims: To describe the natural history of SARS-CoV-2 infection in patients with hypertrophic cardiomyopathy (HCM) compared with a control group and to identify predictors of adverse events.

Methods And Results: Three hundred and five patients [age 56.6 ± 16.

(Not) being granted the right to belong-Amateur football clubs in Germany.

Empirical studies show that first- and second-generation immigrants are less likely to be members of sports clubs than their non-immigrant peers. Common explanations are cultural differences and socioeconomic disadvantages. However, lower participation rates in amateur sport could be at least partly due to ethnic discrimination.

Clinical presentation of pediatric patients with symptomatic SARS-CoV-2 infection during the first months of the COVID-19 pandemic in a single center in Mexico City.

Background: The clinical spectrum of COVID-19 is broad, from asymptomatic to severe cases and death. The objective of this study is to analyze the clinical course of patients attended during the first months of the SARS-CoV-2 pandemic in a third-level pediatric hospital.

Methods: prospective cohort study.

The KDM6B mutation: Phenotype and clinical characteristics-Report of a case.

Introduction: Alterations in the genes of lysine methylation as Lysine-specific demethylase 6B (KDM6B) have been associated with multiple neurodevelopmental disorders. Until now, there are few cases in the literature attributed to KDM6B mutations. This gap may be due to the fact that the exome sequencing technique is still being implemented in routine clinical practice.

Predictive factors of six-week mortality in critically ill patients with SARS-CoV-2: A multicenter prospective study.

Objective: The objective of the study is to identify the risk factors associated with mortality at six weeks, especially by analyzing the role of antivirals and munomodulators.

Design: Prospective descriptive multicenter cohort study.

Setting: 26 Intensive care units (ICU) from Andalusian region in Spain.

Optical imaging spectroscopy for rapid, primary screening of SARS-CoV-2: a proof of concept.

Effective testing is essential to control the coronavirus disease 2019 (COVID-19) transmission. Here we report a-proof-of-concept study on hyperspectral image analysis in the visible and near-infrared range for primary screening at the point-of-care of SARS-CoV-2. We apply spectral feature descriptors, partial least square-discriminant analysis, and artificial intelligence to extract information from optical diffuse reflectance measurements from 5 µL fluid samples at pixel, droplet, and patient levels.

Dataset for field experiments analyzing discrimination in amateur soccer.

This paper presents data of field experiments that analyze discrimination in amateur soccer. The studies created fake accounts and asked amateur soccer coaches to come for a trial practice. The fake accounts had either a native- or a foreign-sounding name.

Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene.

Pathogenic variants in the AP4B1 gene lead to a rare form of hereditary spastic paraplegia (HSP) known as SPG47. We report on a patient with a clinical suspicion of complicated HSP of the lower limbs with intellectual disability, as well as a novel homozygous noncanonical splice site variant in the AP4B1 gene, in which the effect on splicing was validated by RNA analysis. We sequenced 152 genes associated with HSP using Next-Generation Sequencing (NGS).

C4d as a Practical Marker for Cutaneous Amyloidosis.

Cutaneous amyloidosis (CA) is defined by the accumulation of amyloid in the dermis; it might be primary or secondary. The diagnosis is based on histopathological findings with the demonstration of amyloid deposits, confirmed by Congo red stain under the polarized light. Studies on other diagnostic markers are ongoing in the literature.

Learning analytics in higher education: a preponderance of analytics but very little learning?

Unlabelled: In a context where learning mediated by technology has gained prominence in higher education, learning analytics has become a powerful tool to collect and analyse data with the aim of improving students' learning. However, learning analytics is part of a young community and its developments deserve further exploration. Some critical stances claim that learning analytics tends to underplay the complexity of teaching-learning processes.

Performing Simulated Basic Life Support without Seeing: Blind vs. Blindfolded People.

Previous pilot experience has shown the ability of visually impaired and blind people (BP) to learn basic life support (BLS), but no studies have compared their abilities with blindfolded people (BFP) after participating in the same instructor-led, real-time feedback training. Twenty-nine BP and 30 BFP participated in this quasi-experimental trial. Training consisted of a 1 h theoretical and practical training session with an additional 30 min afterwards, led by nurses with prior experience in BLS training of various collectives.