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. All the cases harbored biallelic PPA2 variants in compound heterozygous status. Two brothers from family 1 suffered sudden death after a small first intake of alcohol in 2013 and 2022. The sister remains alive but affected with cardiomyopathy, extensive scar on cardiac imaging, and high sensitivity to alcohol intake. The three siblings carried PPA2 c.290A > G (p.Glu97Gly) novel missense variant and PPA2 c.513C > T (p.Cys171 = ) altering splicing site variant, both probably leading to mRNA degradation based on in-silico and transcript analyses. A teenager from family 2 suffered sudden death after a small intake of alcohol in 2018 and carried PPA2 c.683C > T (p.Pro228Leu) missense and PPA2 c.980_983del (p.Gln327fs) novel frameshift variant, both probably leading to abnormal protein structure. All cases were asymptomatic until adolescence. Furthermore, the sister in family 1 has survived as an asymptomatic adult. PPA2 disease can manifest as cardiac arrest in the young, especially after alcohol exposure. Our results show that PPA2 deficiency can be related to different pathogenicity mechanisms such as abnormal protein structure but also mRNA decay caused by synonymous or missense variants. Strict avoidance of alcohol consumption and early defibrillator implantation might prevent lethal arrhythmias in patients at risk.

SbSeI and SbSeBr micro-columnar solar cells by a novel high pressure-based synthesis process.

Van der Waals chalcogenides and chalcohalides have the potential to become the next thin film PV breakthrough, owing to the earth-abundancy and non-toxicity of their components, and their stability, high absorption coefficient and quasi-1D structure, which leads to enhanced electrical anisotropic properties when the material is oriented in a specific crystalline direction. However, quasi-1D semiconductors beyond Sb2(S,Se)3, such as SbSeX chalcohalides, have been scarcely investigated for energy generation applications, and rarely synthesised by physical vapor deposition methodologies, despite holding the promise of widening the bandgap range (opening the door to tandem or semi-transparent devices), and showing enticing new properties such as ferroelectric behaviour and defect-tolerant nature. In this work, SbSeI and SbSeBr micro-columnar solar cells have been obtained for the first time by an innovative methodology based on the selective halogenation of Sb2Se3 thin films at pressure above 1 atm. It is shown that by increasing the annealing temperature and pressure, the height and density of the micro-columnar structures grows monotonically, resulting in SbSeI single-crystal columns up to 30 µm, and tuneable morphology. In addition, solar cell prototypes with substrate configuration have shown remarkable Voc values above 550 mV and 1.8 eV bandgap.

Validity of the Espiro Mobile Application in the Interpretation of Spirometric Patterns: An App Accuracy Study.

Spirometry is a pulmonary function test where correct interpretation of the results is crucial for accurate diagnosis of disease. There are online tools to assist in the interpretation of spirometry results; however, as yet none are validated. We evaluated the interpretation accuracy of the Espiro app using pulmonologist interpretations as the gold standard. This is an observational descriptive study in which 118 spirometry results were interpreted by the Espiro app, two pulmonologists, two primary care physicians, and two residents of a primary care training program. We determined the interpretation accuracy of the Espiro app and the concordance of the pattern and severity interpretation between the Espiro app and each of the observers using Cohen's kappa coefficient (k). We obtained a sensitivity and specificity for the Espiro app of 97.5% (95% confidence interval (CI): 86.8-99.9%) and 94.9% (95%CI: 87.4-98.6%) with pulmonologist 1 and 100% (95%CI: 91.6-100%) and 98.7% (95%CI: 92.9-99.9%) with pulmonologist 2. The concordance for the pattern interpretation was greater than k 0.907, representing almost perfect agreement. The concordance of the severity interpretation was greater than k 0.807, representing substantial to almost perfect agreement. We concluded that the Espiro app is a valid tool for spirometry interpretation.

A prospective study among neonates born to mothers with active or past Graves disease.

OBJECTIVE: The aim of this prospective study was to describe demographic and clinical characteristics of neonates born to mothers with active or past Graves disease and to assess compliance since implementation of a new protocol in our center. METHODS: We prospectively followed up neonates born to mothers with active or past Graves disease in a tertiary hospital in Spain between August 2019 and September 2021 according to our protocol. We reviewed maternal and neonatal history of these neonates, and we followed up newborns at risk of neonatal hyperthyroidism. RESULTS: Among 5808 births, 33 neonates were born to mothers with active or past Graves disease (0.57%). Six mothers (18.2%) had positive levels of thyroid-stimulating hormone receptor antibodies during pregnancy and five mothers (15.1%) between weeks 20 and 24 of pregnancy. Two of them had received definitive therapy for Graves disease before pregnancy. Two neonates (7.1%) were at high risk of neonatal hyperthyroidism and were followed-up until two months, without hyperthyroidism signs or abnormal thyroid hormone levels. Compliance of protocol during pregnancy was 84.9% and 75.8% at birth. CONCLUSIONS: Prevalence of Graves disease among pregnant women was 0.57%, with no cases of neonatal hyperthyroidism. Compliance of protocol was adequate during pregnancy (84.9%) and acceptable at birth (75.8%).

Does Sb2Se3 Admit Nonstoichiometric Conditions? How Modifying the Overall Se Content Affects the Structural, Optical, and Optoelectronic Properties of Sb2Se3 Thin Films.

Sb2Se3 is a quasi-one-dimensional (1D) semiconductor, which has shown great promise in photovoltaics. However, its performance is currently limited by a high Voc deficit. Therefore, it is necessary to explore new strategies to minimize the formation of intrinsic defects and thus unlock the absorber's whole potential. It has been reported that tuning the Se/Sb relative content could enable a selective control of the defects. Furthermore, recent experimental evidence has shown that moderate Se excess enhances the photovoltaic performance; however, it is not yet clear whether this excess has been incorporated into the structure. In this work, a series of Sb2Se3 thin films have been prepared imposing different nominal compositions (from Sb-rich to Se-rich) and then have been thoroughly characterized using compositional, structural, and optical analysis techniques. Hence, it is shown that Sb2Se3 does not allow an extended range of nonstoichiometric conditions. Instead, any Sb or Se excesses are compensated in the form of secondary phases. Also, a correlation has been found between operating under Se-rich conditions and an improvement in the crystalline orientation, which is likely related to the formation of a MoSe2 phase in the back interface. Finally, this study shows new utilities of Raman, X-ray diffraction, and photothermal deflection spectroscopy combination techniques to examine the structural properties of Sb2Se3, especially how well-oriented the material is.

Neonates With Urinary Tract Infection: Is a Lumbar Puncture Always Indicated?

BACKGROUND: Our objectives were to determine the prevalence of and to identify risk factors for coexisting bacterial meningitis (BM) in neonates with urinary tract infection (UTI). METHODS: A cross-sectional study was conducted at pediatric emergency department of a tertiary teaching hospital from 2001 to 2017. Infants <29 days of age with UTI (≥10,000 colony-forming units/mL of a single pathogen from a catheterized specimen in association with positive urinalysis) were included. Definite BM was defined as growth of a single bacterial pathogen from a cerebrospinal fluid (CSF) sample and probable BM as (1) positive blood culture with CSF pleocytosis and treatment consistent with BM or (2) antibiotic pretreatment before lumbar puncture, CSF pleocytosis and treatment consistent with BM. Univariate testing was used to identify possible risk factors associated with BM. Receiver operating characteristics curves were constructed for the laboratory markers associated with BM. RESULTS: Three hundred seventy-one infants were included. Five [1.3%; 95% confidence interval (CI): 0.6%-3.1%] had BM: 4 definite BM and 1 probable BM. Risk factors detected for BM were classified as not being well-appearing and a procalcitonin value ≥0.35 ng/mL [sensitivity of 100% (95% CI: 56.6%-100%) and negative predictive value of 100% (95% CI: 96.1%-100%)]. CONCLUSIONS: Coexisting BM occurs uncommonly in neonates with UTI. Well-appearing neonates with UTI and procalcitonin value <0.35 ng/mL were at very low risk for BM; avoiding routine lumbar puncture in these patients should be considered.

Cross-sectional association between non-soy legume consumption, serum uric acid and hyperuricemia: the PREDIMED-Plus study.

PURPOSE: To assess the association between the consumption of non-soy legumes and different subtypes of non-soy legumes and serum uric acid (SUA) or hyperuricemia in elderly individuals with overweight or obesity and metabolic syndrome. METHODS: A cross-sectional analysis was conducted in the framework of the PREDIMED-Plus study. We included 6329 participants with information on non-soy legume consumption and SUA levels. Non-soy legume consumption was estimated using a semi-quantitative food frequency questionnaire. Linear regression models and Cox regression models were used to assess the associations between tertiles of non-soy legume consumption, different subtypes of non-soy legume consumption and SUA levels or hyperuricemia prevalence, respectively. RESULTS: Individuals in the highest tertile (T3) of total non-soy legume, lentil and pea consumption, had 0.14 mg/dL, 0.19 mg/dL and 0.12 mg/dL lower SUA levels, respectively, compared to those in the lowest tertile (T1), which was considered the reference one. Chickpea and dry bean consumption showed no association. In multivariable models, participants located in the top tertile of total non-soy legumes [prevalence ratio (PR): 0.89; 95% CI 0.82-0.97; p trend = 0.01, lentils (PR: 0.89; 95% CI 0.82-0.97; p trend = 0.01), dry beans (PR: 0.91; 95% C: 0.84-0.99; p trend = 0.03) and peas (PR: 0.89; 95% CI 0.82-0.97; p trend = 0.01)] presented a lower prevalence of hyperuricemia (vs. the bottom tertile). Chickpea consumption was not associated with hyperuricemia prevalence. CONCLUSIONS: In this study of elderly subjects with metabolic syndrome, we observed that despite being a purine-rich food, non-soy legumes were inversely associated with SUA levels and hyperuricemia prevalence. TRIAL REGISTRATION: ISRCTN89898870. Registration date: 24 July 2014.

Recovery capital pathways: Modelling the components of recovery wellbeing.

BACKGROUND: In recent years, there has been recognition that recovery is a journey that involves the growth of recovery capital. Thus, recovery capital has become a commonly used term in addiction treatment and research yet its operationalization and measurement has been limited. Due to these limitations, there is little understanding of long-term recovery pathways and their clinical application. METHODS: We used the data of 546 participants from eight different recovery residences spread across Florida, USA. We calculated internal consistency for recovery capital and wellbeing, then assessed their factor structure via confirmatory factor analysis. The relationships between time, recovery barriers and strengths, wellbeing and recovery capital, as well as the moderating effect of gender, were estimated using structural equations modelling. RESULTS: The proposed model obtained an acceptable fit (χ2 (141, N=546)=533.642, p<0.001; CMIN/DF=3.785; CFI=0.915; TLI=0.896; RMSEA=0.071). Findings indicate a pathway to recovery capital that involves greater time in residence ('retention'), linked to an increase in meaningful activities and a reduction in barriers to recovery and unmet needs that, in turn, promote recovery capital and positive wellbeing. Gender differences were observed. CONCLUSIONS: We tested the pathways to recovery for residents in the recovery housing population. Our results have implications not only for retention as a predictor of sustained recovery and wellbeing but also for the importance of meaningful activities in promoting recovery capital and wellbeing.

First demonstration and field trial on multi-user UDWDM-PON full duplex PSK-PSK with single monolithic integrated dual-output-DFB-SOA based ONUs.

We demonstrate a monolithically integrated dual-output DFB-SOA, and conduct the field trial on a multi-user bidirectional coherent ultradense wavelength division multiplexing-passive optical network (UDWDM-PON). To the best of our knowledge, this is the first achievement of simplified single integrated laser-based neighboring coherent optical network units (ONUs) with a 12.5 GHz channel spaced ultra-dense access network, including both downstream and upstream, taking the benefits of low footprint and low-temperature dependence.

Simple intradyne PSK system for udWDM-PON.

A homodyne coherent receiver for ultra-dense WDM-PON with off the shelf components is presented. It consists of a conventional DFB, phase switched clock signal, an optical coupler instead of a 90° hybrid, balanced photodetectors and digital signal processing. The phase swing for a DBPSK signal was optimized and the performance was experimentally evaluated in terms of the sensitivity for several laser linewidths. The acceptable frequency offset and clock time delay was also assessed. The results exhibit a sensitivity of -48 dBm at a BER of 10(-3) and indicate a high tolerance to phase noise.