Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays.

Antithrombin deficiency, the most severe congenital thrombophilia, might be underestimated, as some pathogenic variants are not detected by routine functional methods. We have identified 2 new SERPINC1 variants, p.Glu227Lys and p.Asn224His, in 4 unrelated thrombophilic patients with early and recurrent thrombosis that had normal antithrombin activity. In one case, the mutation was identified by whole genome sequencing, while in the 3 remaining cases, the mutation was identified by sequencing SERPINC1 based on a single functional positive finding supporting deficiency. The 2 variants shared a common functional defect, an impaired or null N-glycosylation of Asn224 according to a eukaryotic expression model. Carriers had normal anti-FXa or anti-FIIa activities but impaired anti-FVIIa activity and a detectable loss of inhibitory function when incubating the plasma for 1 hour at 41°C. Moreover, the ß glycoform of the variants, lacking 2 N-glycans, had reduced secretion, increased heparin affinity, no inhibitory activity, and a potential dominant-negative effect. These results explain the increased thrombin generation observed in carriers. Mutation experiments reflected the role that Lysine residues close to the N-glycosylation sequon have in impairing the efficacy of N-glycosylation. Our study shows new elements involved in the regulation of N-glycosylation, a key posttranslational modification that, according to our results, affects folding, secretion, and function, providing new evidence of the pathogenic consequence of an incorrect N-glycosylation of antithrombin. This study supports that antithrombin deficiency is underestimated and encourages the development of new functional and genetic tests to diagnose this severe thrombophilia.

Glucocorticoid signaling in pancreatic islets modulates gene regulatory programs and genetic risk of type 2 diabetes.

Glucocorticoids are key regulators of glucose homeostasis and pancreatic islet function, but the gene regulatory programs driving responses to glucocorticoid signaling in islets and the contribution of these programs to diabetes risk are unknown. In this study we used ATAC-seq and RNA-seq to map chromatin accessibility and gene expression from eleven primary human islet samples cultured in vitro with the glucocorticoid dexamethasone at multiple doses and durations. We identified thousands of accessible chromatin sites and genes with significant changes in activity in response to glucocorticoids. Chromatin sites up-regulated in glucocorticoid signaling were prominently enriched for glucocorticoid receptor binding sites and up-regulated genes were enriched for ion transport and lipid metabolism, whereas down-regulated chromatin sites and genes were enriched for inflammatory, stress response and proliferative processes. Genetic variants associated with glucose levels and T2D risk were enriched in glucocorticoid-responsive chromatin sites, including fine-mapped variants at 51 known signals. Among fine-mapped variants in glucocorticoid-responsive chromatin, a likely casual variant at the 2p21 locus had glucocorticoid-dependent allelic effects on beta cell enhancer activity and affected SIX2 and SIX3 expression. Our results provide a comprehensive map of islet regulatory programs in response to glucocorticoids through which we uncover a role for islet glucocorticoid signaling in mediating genetic risk of T2D.

Spanish version of the Self-Care of Chronic Illness Inventory: A validation study amongst community-dwelling older adults with chronic multimorbidity.

AIM: To psychometrically assess the Spanish version of the Self-Care of Chronic Illness Inventory (SC-CII-Sp) in community-dwelling older adults with chronic multimorbidity. DESIGN: A methodological study. METHOD: A total of 1260 older adults participated in the study between May 2020 and February 2022. The data were analysed using SPSS Statistics® 26 and AMOS® 24. The items' content validity index and the Fleiss' kappa were calculated to assess the SC-CII-Sp's content validity. Convergent validity was assessed by calculating the Pearson correlation coefficient between the participants' scores on the SC-CII-Sp and their scores on the Spanish Chronic Disease Self-Efficacy scale (SCD-SE). Construct validity was tested by performing a confirmatory factor analysis (CFA). The SC-CII-Sp's reliability was tested by computing the Cronbach's alpha. RESULTS: The SC-CII-Sp showed good content and convergent validity. The CFA showed that the SC-CII-Sp has three sub-scales. The 8-item Self-Care Maintenance sub-scale has good internal consistency and is comprised of two dimensions: illness-related and health-promoting behaviour. The Self-Care Monitoring sub-scale had excellent internal consistency and its five loaded items belonged to a single dimension. The 6-item Self-Care Management sub-scale has adequate internal consistency and two dimensions: autonomous and consulting behaviour. CONCLUSION: The Spanish version of SC-CII is a valid and reliable instrument to be used in the assessment of self-care behaviours amongst Spanish-speaking, community-dwelling older adults with chronic multimorbidity. IMPLICATIONS FOR THE PROFESSION: Nurses need valid and reliable tools to assess self-care behaviours in Spanish-speaking community-dwelling older adults with chronic multimorbidity. This study provides a 19-item tool that allows for the comprehensive evaluation of self-care behaviours in healthy and ill states. IMPACT: Using the SC-CII-Sp in clinical or research settings could help nurses to examine the effects of different interventions on self-care behaviours amongst Spanish-speaking, community-dwelling older adults with chronic multimorbidity. PATIENT OR PUBLIC CONTRIBUTION: None to be reported.

A correlative biomarker study and integrative prognostic model in chemotherapy-naïve metastatic castration-resistant prostate cancer treated with enzalutamide.

BACKGROUND: There is a considerable need to incorporate biomarkers of resistance to new antiandrogen agents in the management of castration-resistant prostate cancer (CRPC). METHODS: We conducted a phase II trial of enzalutamide in first-line chemo-naïve asymptomatic or minimally symptomatic mCRPC and analyzed the prognostic value of TMPRSS2-ERG and other biomarkers, including circulating tumor cells (CTCs), androgen receptor splice variant (AR-V7) in CTCs and plasma Androgen Receptor copy number gain (AR-gain). These biomarkers were correlated with treatment response and survival outcomes and developed a clinical-molecular prognostic model using penalized cox-proportional hazard model. This model was validated in an independent cohort. RESULTS: Ninety-eight patients were included. TMPRSS2-ERG fusion gene was detected in 32 patients with no differences observed in efficacy outcomes. CTC detection was associated with worse outcome and AR-V7 in CTCs was associated with increased rate of progression as best response. Plasma AR gain was strongly associated with an adverse outcome, with worse median prostate specific antigen (PSA)-PFS (4.2 vs. 14.7 m; p < 0.0001), rad-PFS (4.5 vs. 27.6 m; p < 0.0001), and OS (12.7 vs. 38.1 m; p < 0.0001). The clinical prognostic model developed in PREVAIL was validated (C-Index 0.70) and the addition of plasma AR (C-Index 0.79; p < 0.001) increased its prognostic ability. We generated a parsimonious model including alkaline phosphatase (ALP); PSA and AR gain (C-index 0.78) that was validated in an independent cohort. CONCLUSIONS: TMPRSS2-ERG detection did not correlate with differential activity of enzalutamide in first-line mCRPC. However, we observed that CTCs and plasma AR gain were the most relevant biomarkers.

Patients' experiences and perceptions of dignity in end-of-life care in emergency departments: A qualitative study.

AIMS: To explore and understand the experiences of patients with advanced illness in relation to dignity during end-of-life care in emergency departments. DESIGN: Qualitative study based on Gadamer's hermeneutics. METHODS: Between September 2019 and February 2020, 16 in-depth interviews were carried out with advanced illness patients who attended emergency departments. The participants were informed priorly and signed informed consent. The data were analysed using an inductive strategy for finding emerging themes. The Consolidated Criteria for Reporting Qualitative Research was used for writing the study's report. RESULTS: In the data analysis process, two main themes emerged that glean the experiences of patients in relation to dignity during end-of-life care in emergency departments. 'Dignity as an individual's attribute' and 'Acting with dignity: Dignity as a behavioural attribute'. CONCLUSION: Patient dignity in end-of-life care is centred around the principle of control (of oneself, one's death and one's emotions). The strategies required for patients to preserve their dignity can be somewhat incompatible with the dynamics and objectives of healthcare professionals who work in emergency departments. IMPACT STATEMENT: The dignity of patients with advanced illness who attend emergency departments is a relevant issue that merits being addressed from the patients' perspective. Participants have identified that dignity is a way of being and behaving in the face of illness. Emergency departments need to respect end-of-life patients' desires by supporting and accompanying them, avoiding therapeutic obstinacy. We recommend care to be centred on patients' well-being, to respect their autonomy and decision-making processes, and to allow prompt referrals to palliative care services. PATIENT OR PUBLIC CONTRIBUTION: Managers from the Emergency Departments participated in the study design and patients' recruitment. Patients' relatives were informed about the study's aim, and they contributed to the development of the interview protocol.

Experiences of poverty amongst low-income older adults living in a high-income country: A qualitative study.

AIM: To understand the experience of low-income older adults living in poverty in a high-income country. DESIGN: A qualitative study based on Gadamer's hermeneutic phenomenology. METHODS: A convenience sample of twenty-seven low-income older adults were interviewed in-depth between September 2021 and January 2022. Fleming's method for conducting phenomenological qualitative studies was followed and ATLAS.ti software was used for data analysis. RESULTS: Three main themes were extracted from the analysis: (i) 'living in the shadow of poverty', (ii) 'unprotected by the 'social shield' of the welfare state' (iii) 'the struggle to attain good health'. CONCLUSION: Living in poverty affects all spheres of life. Older adults living in poverty feel excluded from social support policies and laws. This has a negative impact on the older adults' mental health and can lead to social isolation. IMPLICATIONS FOR THE PROFESSION AND/OR PATIENT CARE: Nursing interventions to promote health amongst older adults living in poverty should include an assessment of the patient's social determinants and a focus on increasing social participation. Older people living in poverty experience difficulties accessing formal social support so nurses should implement patient navigation interventions that aim to help them overcome the complexities of the system. Nursing interventions to improve mental health amongst older adults living in poverty are much needed. IMPACT: Living in poverty increases older adults' vulnerability. Older adults living in poverty suffer from mental health issues as they live under constant pressure to meet their basic needs and lack formal social support. These findings are important for nurses, who play a pivotal role in the design, implementation and evaluation of policies and interventions that promote health equity. REPORTING METHOD: The study has been conducted following the COREQ guidelines. PATIENT OR PUBLIC CONTRIBUTION: There has been no public or patient involvement in the design or development of the study.

Compassion in health professionals: Development and validation of the Capacity for Compassion Scale.

BACKGROUND: Health professionals witness pain and suffering when they care for sick people and their families. Compassion is a necessary quality in their work as it combines the will to help, alleviate suffering and promote the well-being of both the people they are attending and the professionals themselves. The aim of the study was to design and evaluate the psychometric properties of the Capacity for Compassion Scale (CCS). DESIGN: A quantitative, descriptive and cross-sectional study was carried out to evaluate the psychometric properties of the scale (reliability, temporal stability, content validity, criterion validity and construct validity). METHODS: The study was carried out in two phases: pilot study and final validation. The data were collected between April and May 2022. The sample was selected by convenience sampling and was made up of a total of 264 participants, 59 in the pilot phase and 205 in the final validation. RESULTS: The Capacity for Compassion Scale has been shown to have good psychometric properties in relation to reliability, temporal stability, and content, criterion, and construct validity. Factor analysis showed that there were four subdimensions of the scale: motivation/commitment, presence, shared humanity and self-compassion. The results also indicate that compassionate ability is significantly correlated with age and work experience. CONCLUSIONS: The Capacity for Compassion Scale shows adequate psychometric properties. This instrument measures the compassion capacity of health professionals, which is a valuable discovery for new lines of research in this field. IMPACT: Through this scale, low levels of capacity for compassion can be detected that negatively influence the quality of care provided by health professionals. The Capacity for Compassion Scale can therefore contribute to the identification of needs and promote training around compassion for health professionals. PATIENT OR PUBLIC CONTRIBUTION: No patient or public contribution. WHAT PROBLEM DID THE STUDY ADDRESS?: Compassion in health professionals has positive effects on improving the quality of care, the satisfaction of professionals and the work environment. There are compassion cultivation programmes whose validity has been proven for the development of the dimensions of compassion. There is no specific instrument that measures capacity for compassion in healthcare professionals. WHAT WERE THE MAIN FINDINGS?: A scale is designed to measure capacity for compassion in health professionals. This is the only such scale available up until now. The scale measures four dimensions of compassion: motivation/commitment, presence, shared humanity and self-compassion. WHERE AND ON WHOM WILL THE RESEARCH HAVE AN IMPACT?: The development of specific programmes that can increase the compassion of health professionals with all the benefits that this can bring to health care is encouraged. It will be possible to analyse the effects of training programmes on the cultivation of compassion.

Irregular migrants' experiences of health disparities while living in informal settlements during the COVID-19 pandemic.

AIMS: The objective of this study was to describe and understand irregular migrants' (IMs') experiences of health disparities while living in informal settlements (ISs) during the COVID-19 pandemic. DESIGN: Qualitative descriptive study. METHODS: Thirty-four IMs originating from different African countries living in ISs took part in this study. Data were collected between January and March 2022 through three focus groups and 17 in-depth interviews. Thematic analysis was used to analyse qualitative data with ATLAS.ti computer software. RESULTS: Three main themes emerged: (1) Extreme vulnerability: ISs and abuse; (2) Inequality in health treatment has increased during COVID-19; and (3) The impact of COVID-19 on the health of IMs: help from non-governmental organizations and nurses. CONCLUSION: Irregular migrants are at a higher risk of exposure to COVID-19 due to their precarious living conditions, administrative situation and access to the health system. It is recommended that specific programmes be strengthened to improve health care for this population. IMPACT: What problem did the study address? This study examines IMs' experiences of health disparities during the COVID-19 pandemic. What were the main findings? IMs are at higher risk of exposure to COVID-19 due to social, health, housing and work inequalities. Community health nurses alongside non-governmental organizations have facilitated the implementation of measures to protect this population against COVID-19. Where and on whom will the research have an impact? With the aim of improving care for IMs, strategies have been suggested for health institutions to address problems relating to accessing the health system, and to promote networking between non-governmental organizations and community health nurses.

Driver Identification Using Statistical Features of Motor Activity and Genetic Algorithms.

Driver identification refers to the process whose primary purpose is identifying the person behind the steering wheel using collected information about the driver him/herself. The constant monitoring of drivers through sensors generates great benefits in advanced driver assistance systems (ADAS), to learn more about the behavior of road users. Currently, there are many research works that address the subject in search of creating intelligent models that help to identify vehicle users in an efficient and objective way. However, the different methodologies proposed to create these models are based on data generated from sensors that include different vehicle brands on routes established in real environments, which, although they provide very important information for different purposes, in the case of driver identification, there may be a certain degree of bias due to the different situations in which the route environment may change. The proposed method seeks to intelligently and objectively select the most outstanding statistical features from motor activity generated in the main elements of the vehicle with genetic algorithms for driver identification, this process being newer than those established by the state-of-the-art. The results obtained from the proposal were an accuracy of 90.74% to identify two drivers and 62% for four, using a Random Forest Classifier (RFC). With this, it can be concluded that a comprehensive selection of features can greatly optimize the identification of drivers.

Detection of Pedestrians in Reverse Camera Using Multimodal Convolutional Neural Networks.

In recent years, the application of artificial intelligence (AI) in the automotive industry has led to the development of intelligent systems focused on road safety, aiming to improve protection for drivers and pedestrians worldwide to reduce the number of accidents yearly. One of the most critical functions of these systems is pedestrian detection, as it is crucial for the safety of everyone involved in road traffic. However, pedestrian detection goes beyond the front of the vehicle; it is also essential to consider the vehicle's rear since pedestrian collisions occur when the car is in reverse drive. To contribute to the solution of this problem, this research proposes a model based on convolutional neural networks (CNN) using a proposed one-dimensional architecture and the Inception V3 architecture to fuse the information from the backup camera and the distance measured by the ultrasonic sensors, to detect pedestrians when the vehicle is reversing. In addition, specific data collection was performed to build a database for the research. The proposed model showed outstanding results with 99.85% accuracy and 99.86% correct classification performance, demonstrating that it is possible to achieve the goal of pedestrian detection using CNN by fusing two types of data.

Lived experiences and opinions of women of sub-Saharan origin on female genital mutilation: A phenomenological study.

AIMS AND OBJECTIVES: This study aimed to describe and understand the lived experiences and opinions of sub-Saharan women living in Spain in relation to female genital mutilation. BACKGROUND: Female genital mutilation is a bloody procedure with serious consequences for the health of women and girls. Understanding mutilated women's lived experiences plays a crucial role in the management of health consequences and could help healthcare professionals to provide assistance to these women. DESIGN: A descriptive phenomenological study was carried out. The COREQ checklist was followed as guidance to write the manuscript. METHODS: A total of 12 in-depth interviews were conducted. Interviews were recorded, transcribed and analysed using ATLAS.ti 9.0. RESULTS: Two themes with four subthemes were identified from the data analysis: 1) 'The traumatic experience of female circumcision' with the subthemes 'Female mutilation is a physical and psychological torture procedure' and 'recognising and coping with negative emotions'; 2) 'The fight for the eradication of female genital mutilation' which contains the subthemes 'the need for a real sociocultural change at the origin' and '"I want to be the last": Personal development leads to sociocultural change'. CONCLUSIONS: Female genital mutilation was experienced by women as a very aggressive and traumatic event. It causes considerable negative emotions that last over time. Although there is a tendency to reject the practice, in women's countries of origin, there is social pressure for girls to be mutilated. RELEVANCE TO CLINICAL PRACTICE: Caring for women who have suffered from female genital mutilation requires awareness of the traumatic experience they underwent when they were girls. Healthcare professionals play a crucial role in eradicating female genital mutilation. Apart from education, preventive measures may include specific recommendations when girls are travelling to the country of origin and participatory action research.

Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency.

Multiplex ligation-dependent probe amplification (MLPA) identifies genetic structural variants in SERPINC1 in 5% of cases with antithrombin deficiency (ATD), the most severe congenital thrombophilia. Our aim was to unravel the utility and limitations of MLPA in a large cohort of unrelated patients with ATD (N = 341). MLPA identified 22 structural variants (SVs) causing ATD (6.5%). MLPA did not detect SVs affecting introns (four cases), and the diagnosis was inaccurate in two cases according to long-range PCR or nanopore sequencing. MLPA was used to detect possible hidden SVs in 61 cases with type I deficiency with single nucleotide variations (SNVs) or small insertion/deletion (INDEL). One case had a false deletion of exon 7, as the 29-bp deletion affected an MLPA probe. We evaluated 32 variants affecting MLPA probes: 27 SNVs and 5 small INDELs. In three cases, MLPA gave false-positive results, all diagnosed as deletions of the affected exon: a small INDEL complex, and two SNVs affecting MLPA probes. Our study confirms the utility of MLPA to detect SVs in ATD, but also shows some limitations in detecting intronic SVs. MLPA renders imprecise and false-positive results for genetic defects which affect MLPA probes. Our results encourage the validation of MLPA results.

Factor XI in Carriers of Antiphospholipid Antibodies: Elevated Levels Associated with Symptomatic Thrombotic Cases, While Low Levels Linked to Asymptomatic Cases.

Antiphospholipid syndrome (APS) is a thromboinflammatory disorder caused by circulating antiphospholipid autoantibodies (aPL) and characterized by an increased risk of thrombotic events. The pathogenic mechanisms of these antibodies are complex and not fully understood, but disturbances in coagulation and fibrinolysis have been proposed to contribute to the thrombophilic state. This study aims to evaluate the role of an emerging hemostatic molecule, FXI, in the thrombotic risk of patients with aPL. Cross-sectional and observational study of 194 consecutive and unrelated cases with aPL recruited in a single center: 82 asymptomatic (AaPL) and 112 with primary antiphospholipid syndrome (APS). Clinical and epidemiological variables were collected. The profile of aPL was determined. Plasma FXI was evaluated by Western blotting and two coagulation assays (FXI:C). In cases with low FXI, molecular analysis of the F11 gene was performed. FXI:C levels were significantly higher in patients with APS than in patients with AaPL (122.8 ± 33.4 vs. 104.5 ± 27.5; p < 0.001). Multivariate analysis showed a significant association between symptomatic patients with aPL (APS) and high FXI (>150%) (OR = 11.57; 95% CI: 1.47-90.96; p = 0.020). In contrast, low FXI (<70%), mostly caused by inhibitors, was less frequent in the group of patients with APS compared to AaPL (OR = 0.17; 95%CI: 0.36-0.86; p = 0.032). This study suggests that FXI levels may play a causal role in the prothrombotic state induced by aPLs and holds the promise of complementary treatments in APS patients by targeting FXI.

Effects of home visiting programmes on community-dwelling older adults with chronic multimorbidity: a scoping review.

BACKGROUND: Chronic ultimorbidity is the most frequent and serious health problem in older adults. Home visiting programmes could be a strategy with potential benefits. However, there are no scoping reviews to date that examine the effects of home visiting programmes on community-dwelling older adults with chronic multimorbidity. OBJECTIVE: To examine the effects of home visiting programmes on community-dwelling older adults with chronic multimorbidity. METHODS: A scoping review was carried out following PRISMA-ScR reporting guidelines. The search was conducted in six databases (PubMed/Medline, Cochrane, CINAHL, Web of Science, Scopus and EMBASE) between October 2021 and April 2022. RESULTS: Four RCTs with 560 patients were included. The visits were carried out by nurses, nursing students, volunteers, and other healthcare professionals. The interventions varied in the number of visits, frequency, duration of follow-up, and whether or not they were combined with other strategies such as telephone calls. Discrepancies were found in the effects of the interventions on quality of life, self-efficacy, self-rated health, and use and cost of health and social services. CONCLUSION: This review shows that home visiting programmes could have potential benefits for older adults with chronic multimorbidity. However, its results have been inconclusive. There is a need for high quality studies involving a larger number of patients, in which home visits are the main intervention.

Spanish version of the self-care self-efficacy scale: A validation study in community-dwelling older adults with chronic multimorbidity.

OBJECTIVE: To test the psychometric properties of the Spanish version of the Self-Care Self-Efficacy Scale (SCSES-Sp) in community-dwelling older adults with chronic multimorbidity. METHODS: A sample of 1013 community-dwelling older adults with chronic multimorbidity participated in an observational cross-sectional study that was carried out in 3 phases. RESULTS: Confirmatory factor analysis showed that the SCSES-Sp has 4 dimensions: "self-efficacy in self-care behaviours based on clinical knowledge", "self-efficacy in self-care maintenance", "self-efficacy in self-care monitoring", and "self-efficacy in self-care management". A panel of independent experts considered the content of the SCSES-Sp valid. Convergent validity analysis showed moderate-strong correlations between all of the SCSES-Sp's dimensions and the reference criteria chosen. Reliability was good for the SCSES-Sp and all its dimensions. Test-retest reliability analysis showed that the SCSES-Sp was temporally stable. CONCLUSIONS: The SCSES-Sp is a valid and reliable tool to assess self-efficacy in self-care in Spanish-speaking, community-dwelling older adults with chronic multimorbidity.

Incidence of Guillain-Barré syndrome following SARS-CoV-2 immunization: Analysis of a nationwide registry of recipients of 81 million doses of seven vaccines.

BACKGROUND AND PURPOSE: Information on Guillain-Barré syndrome (GBS) as an adverse event following immunization (AEFI) against SARS-CoV-2 remains scarce. We aimed to report GBS incidence as an AEFI among adult (≥18 years) recipients of 81,842,426 doses of seven anti-SARS-CoV-2 vaccines between December 24, 2020, and October 29, 2021, in Mexico. METHODS: Cases were retrospectively collected through passive epidemiological surveillance. The overall observed incidence was calculated according to the total number of administered doses. Vaccines were analyzed individually and by vector as mRNA-based (mRNA-1273 and BNT162b2), adenovirus-vectored (ChAdOx1 nCov-19, rAd26-rAd5, Ad5-nCoV, and Ad26.COV2-S), and inactivated whole-virion-vectored (CoronaVac) vaccines. RESULTS: We identified 97 patients (52 males [53.6%]; median [interquartile range] age 44 [33-60] years), for an overall observed incidence of 1.19/1,000,000 doses (95% confidence interval [CI] 0.97-1.45), with incidence higher among Ad26.COV2-S (3.86/1,000,000 doses, 95% CI 1.50-9.93) and BNT162b2 recipients (1.92/1,00,000 doses, 95% CI 1.36-2.71). The interval (interquartile range) from vaccination to GBS symptom onset was 10 (3-17) days. Preceding diarrhea was reported in 21 patients (21.6%) and mild COVID-19 in four more (4.1%). Only 18 patients were tested for Campylobacter jejuni (positive in 16 [88.9%]). Electrophysiological examinations were performed in 76 patients (78.4%; axonal in 46 [60.5%] and demyelinating in 25 [32.8%]); variants were similar across the platforms. On admission, 91.8% had a GBS disability score ≥3. Seventy-five patients (77.3%) received intravenous immunoglobulin, received seven plasma exchange (7.2%), and 15 (15.5%) were treated conservatively. Ten patients (10.3%) died, and 79.1% of survivors were unable to walk independently. CONCLUSIONS: Guillain-Barré syndrome was an extremely infrequent AEFI against SARS-CoV-2. The protection provided by these vaccines outweighs the risk of developing GBS.

Molecular and clinical characterization of transient antithrombin deficiency: A new concept in congenital thrombophilia.

Antithrombin deficiency, the most severe thrombophilia, might be underestimated, since it is only investigated in cases with consistent functional deficiency or family history. We have analyzed 444 consecutive, unrelated cases, from 1998 to 2021, with functional results supporting antithrombin deficiency in at least one sample. Plasma antithrombin was evaluated by functional and biochemical methods in at least two samples. SERPINC1 gene was analyzed by sequencing and MPLA. Hypoglycosylation was studied by electrophoresis and high-performance liquid chromatography (HPLC). In 260 of 305 cases (85.2%) with constitutive deficiency (activity < 80% in all samples), a SERPINC1 (N = 250), or N-glycosylation defect (N = 10) was observed, while 45 remained undetermined. The other 139 cases had normal antithrombin activity (≥ 80%) in at least one sample, what we called transient deficiency. Sixty-one of these cases (43.9%) had molecular defects: 48 had SERPINC1 variants, with two recurrent mutations (p.Ala416Ser[Cambridge II], N = 15; p.Val30Glu[Dublin], N = 12), and 13 hypoglycosylation. Thrombotic complications occurred in transient deficiency, but were less frequent, latter-onset, and had a higher proportion of arterial events than in constitutive deficiency. Two mechanisms explained transient deficiency: The limitation of functional methods to detect some variants and the influence of external factors on the pathogenic consequences of these mutations. Our study reveals a molecular defect in a significant proportion of cases with transient antithrombin deficiency, and changes the paradigm of thrombophilia, as the pathogenic effect of some mutations might depend on external factors and be present only at certain timepoints. Antithrombin deficiency is underestimated, and molecular screening might be appropriate in cases with fluctuating laboratory findings.

Experiences of Home Care Nurses During the COVID-19 Pandemic.

BACKGROUND: The COVID-19 pandemic has provoked several changes in home care. Understanding home care nurses' experiences during the COVID-19 pandemic plays an essential role in home care management. OBJECTIVE: This study aimed to explore and articulate the experience of home care nurses during the COVID-19 pandemic in Spain. DESIGN: A qualitative study using hermeneutic phenomenology was carried out. Twenty home care nurses were interviewed by teleconference between January and March 2021. Interviews were audio-recorded, transcribed verbatim, and analyzed using qualitative data analysis software. RESULTS: Three main themes with five subthemes emerged from the data analysis: (a) "The effect of COVID-19 pandemic on home care," with the subtheme "the reorganization of home care nurses' competencies"; (b) "The role of telehealth in home care," which included the subthemes "home care nurses' satisfaction with telehealth" and "barriers to implement telehealth in home care"; and (c) "Effects of the pandemic on home care nurses' lives," including the subthemes "working in a pandemic is emotionally draining" and "the continuing fear of infecting others." DISCUSSION: The findings from this study demonstrate the profound effect that home care has experienced during the COVID-19 pandemic. Home care nurses' competencies were modified to care for and diagnose COVID-19 patients. Face-to-face home care was replaced by telehealth. All home care nurses experienced physical and psychological symptoms and the fear of infecting others.

Validation of AQoL-8D: a health-related quality of life questionnaire for adult patients referred for otolaryngology.

PURPOSE: The purpose of the study was to validate the AQoL-8D questionnaire in the adult population of patients referred to an otolaryngology clinic. METHODS: AQoL-8D was translated into Polish. 463 patients (age18-80 years) with otolaryngological conditions were assessed with the AQoL-8D, SF-6D, and SWLS questionnaires. We investigated the item content-relevance, factor structure by means of Confirmatory Factor Analysis, corrected item-total correlations, Cronbach's alpha, Pearson correlation of the AQoL-8D scores with results from SF-6D and from the SWLS questionnaires. Finally, ANOVA was used to test the AQoL-8D ability to group the HRQoL of patients in terms of their otolaryngological management type. RESULTS: The median score of item content-relevance was 5.0 for all AQoL-8D items. Confirmatory Factor Analysis revealed the following fit indices: Comparative Fit Index = 0.81; Tucker-Lewis Index = 0.80; and Root Mean Square Error of Approximation = 0.07. Cronbach's alpha for AQoL-8D dimensions ranged from 0.48 to 0.79. Mean item-total correlations over all dimensions, super dimensions, and the instrument overall were higher than 0.3. There was a significant Pearson correlation between the results obtained with AQoL-8D and SF-6D (r = 0.68), and with AQoL-8D and SWLS (r = 0.43). A one-way ANOVA showed a significant effect of management type on HRQoL as measured by AQoL-8D [F(4,458) = 6.12, p < 0.001] CONCLUSION: AQoL-8D provides valid and reliable measures of HRQoL in patients undergoing otolaryngological treatment. Because it is a generic questionnaire, it is possible to make general comparisons of otolaryngology outcomes with those from other subspecialties.

Efectividad de las vacunas contra SARS-CoV-2 en hospitalizados con fallas vacunales en 10 hospitales de la CCINSHAE.

OBJETIVO: Evaluar la efectividad de las vacunas contra SARS-CoV-2 para evitar muerte e intubación en pacientes hospitalizados con Covid-19. Material y métodos. Se presentó un análisis de 3 565 hospitalizaciones por SARS-CoV-2 de personas mayores de 20 años de edad, reportadas con fines de salud pública por 10 hospitales de especialidad. Se comparó a los egresados por mejoría (2 094) con los fallecidos (1 471) en modelos mixtos de regresión logística ajustados por edad, sexo, número de comorbilidades y el hospital como variable aleatoria. RESULTADOS: Un esquema completo de vacunación, con cinco tipos de vacunas disponi-bles, tuvo un efecto protector para muerte o intubación (RM: 0.67, IC95%: 0.54,0.83, 33% de protección); y para muerte (RM: 0.80, IC95%: 0.64,0.99, 20% de protección) estos datos se compararon con los que no habían sido vacunados. Todas las vacunas aplicadas mostraron un efecto protector con un RM<0.8, con intervalos de confianza variables. Conclusio-nes. El antecedente de vacunación reduce los riesgos de ser intubado y morir, aun en pacientes previamente vacunados y hospitalizados con Covid-19 grave.