Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or ...liver disease in children and adults, in which some aspects remain unresolved.
In this review, we summarise and update current knowledge on alpha-1 antitrypsin deficiency in order to identify and discuss areas of controversy and formulate questions that need further research.
1) AATD is a highly underdiagnosed condition. Over 120,000 European individuals are estimated to have severe AATD and more than 90% of them are underdiagnosed.
2) Several clinical and etiological aspects of the disease are yet to be resolved. New strategies for early detection and biomarkers for patient outcome prediction are needed to reduce morbidity and mortality in these patients; 3) Augmentation therapy is the only specific approved therapy that has shown clinical efficacy in delaying the progression of emphysema. Regrettably, some countries reject registration and reimbursement for this treatment because of the lack of larger randomised, placebo-controlled trials. 4) Alternative strategies are currently being investigated, including the use of gene therapy or induced pluripotent stem cells, and non-augmentation strategies to prevent AAT polymerisation inside hepatocytes.
Detection of epidermal growth factor receptor (EGFR) mutations in exons 18-21 is recommended in all patients with advanced Non-small-cell lung carcinoma due to the demonstrated efficiency of the ...standard therapy with tyrosine kinase inhibitors in EGFR-mutated patients. Therefore, choosing a suitable technique to test EGFR mutational status is crucial to warrant a valid result in a short turnaround time using the lowest possible amount of tissue material. The Idylla™ EGFR Mutation Test is a simple, fast and reliable method designed for the detection of EGFR mutations from formalin-fixed paraffin-embedded samples. The aim of this study was the Clinical Performace Evaluation of the Idylla™ EGFR Mutation Test on the Idylla™ System.
EGFR mutational status was determined on 132 archived formalin-fixed paraffin-embedded tissue sections with Idylla™ technology. Results were compared with the results previously obtained by routine method in the reference lab (Therascreen® EGFR RGQ PCR v2, Qiagen in Molecular Pathology lab, Hospital Universitario Virgen del Rocío de Sevilla).
The overall agreement between results obtained with the Idylla™ EGFR Mutation Test and the Comparator test method was 95.38% (with 1-sided 95% lower limit of 91.7%) showing Positive Diagnostic Agreement of 93.22% and Negative Diagnostic Agreement of 97.18%, with a Limit Of Detection ≤5%.
The Idylla™ EGFR Mutation Test passed its clinical validity performance characteristics for accuracy.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
We aimed to analyze risk factors related to the development of delirium, aiming for early intervention in patients with greater risk.
Observational study, including prospectively collected patients ...treated in a single general ICU. These were classified into two groups, according to whether they developed delirium or not (screening performed using CAM-ICU tool). Demographics and clinical data were analyzed. Multivariate logistic regression analyses were performed to quantify existing associations.
1462 patients were included. 93 developed delirium (incidence: 6.3%). These were older, scored higher on the Clinical Frailty Scale, on the risk scores on admission (SAPS-3 and SOFA), and had a greater number of organ failures (OF). We observed more incidence of delirium in patients who (a) presented more than two OF (20.4%; OR 4.9; CI95%: 2.9-8.2), and (b) were more than 74 years old albeit having <2 OF (8.6%; OR 2.1; CI95%: 1.3-3.5). Patients who developed delirium had longer ICU and hospital length-of-stays and a higher rate of readmission.
The highest risk observed for developing delirium clustered in patients who presented more than 2 OF and patients over 74 years old. The detection of patients at high risk for developing delirium could imply a change in management and improved quality of care.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Small for gestational age (SGA) perform a postnatal catch-up growth to recover their genetic trajectory. We studied the postnatal catch-up growth pattern of fetuses born with an ...appropriate-for-gestational-age (AGA) weight but with fetal growth deceleration (FGD) to explore whether they catch up.
Nine hundred and sixty-six newborns at Villalba University General Hospital (HUGV), were followed from 34 to 37 weeks to birth. Z-scores, adjusted for sex and age, of weight, length, and BMI at 3, 6, 9, and 12 months were calculated. We define catch-up as an increase in z-score greater than 0.67 SD in the growth curves.
AGA FGD had lower mean weight and length than AGA non-FGD at all time points; BMI was lower until 3 months. AGA FGD had a lower weight, length, and BMI z-score (until 9, 6 months, and at birth, respectively) than AGA non-FGD. AGA FGD newborns had a significantly increased likelihood of weight catch-up at 3 months (OR 1.79; 95% CI: 1.16, 2.78; p = 0.009) and BMI in all investigated periods (OR 1.90; 95% CI 1.30, 2.78; p < 0.001 at 3 months), compared to AGA non-FGD newborns.
AGA FGD newborns perform catch-up growth, especially in weight and BMI, in the first year of life, compared to AGA non-FGD.
Appropriate-for-gestational-age (AGA) newborns with fetal growth deceleration (FGD), between the third trimester of pregnancy and delivery, present a lower weight and height, during the first year of life, compared to AGA non-FGD. Appropriate-for-gestational-age (AGA) newborns with fetal growth deceleration (FGD), between the third trimester of pregnancy and delivery, present a higher likelihood of weight catch-up in the first 3 months of life and of BMI in the first year compared to AGA non-FGD. AGA FGD experienced early weight and BMI catch-up, especially in the first 3 months of life, like SGA. This finding should be considered in the future follow-up.
El objetivo de la investigación es identificar las características del alumnado que no participa en episodios de bullying en función de estereotipos de género, crianza; actitudes y estrategias ...cognitivas sociales y sobre-ingesta alimentaria. En el estudio participaron 1190 alumnos de educación básica de once escuelas públicas del Estado de México, México. Investigación cuantitativa, con estudio descriptivo y diseño transversal. Se recogieron datos a partir de cinco instrumentos que miden las variables de estudio: bullying, estereotipos de género, crianza, estrategias cognitivas sociales, sobre-ingesta alimentaria. Los resultados permitieron identificar cinco tipos de alumnos (víctimas de violencia escolar; víctimas de bullying; bully; doble rol y no involucrados), los contrastes de medias a través del ANOVA de un factor, identificó diferencias significativas en los grupos con respecto a cada una de las variables estudiadas. Se concluye que el alumnado que no se involucran en episodios de bullying, tienen más hábitos de salud, más habilidades sociales que facilitan adaptación al contexto social, sin identificarse con estereotipos tradicionales como el femenino y el machismo. Con respecto a la crianza de sus padres, se identifica que no son educados a través de prácticas de crianza inefectivas como el maltrato. Los resultados describen características definitorios del alumnado que no se involucra en episodios de bullying, lo que será de gran utilidad para la elaboración de programas de prevención e intervención.
The objective of the research is to identify the characteristics of students who do not participate in bullying episodes (called “not involved”), in function of gender stereotypes, parenting styles; attitudes and social cognitive strategies and food intake. The study involved 1190 elementary school students, from eleven public schools in the State of Mexico, Mexico. Quantitative research, with descriptive study and cross-sectional design. Data were collected from five instruments that measure the study variables: bullying, gender stereotypes, parenting styles, social cognitive strategies, food intake. The results identified five types of students (victims of school violence; victims of bullying; bully; double role and not involved), the contrasts for one-way ANOVA of a factor, identified significant differences in the groups with respect to each of the variables studied. It is concluded that students who do not engage in bullying episodes (not involved), have more health habits, more social skills that facilitate adaptation to the social context, without identifying with traditional stereotypes such as traditional feminine and machismo. With regard to parenting, it is identified that they are not educated through ineffective parenting practices such as abuse. The results of this study describe defining characteristics of students who do not engage in bullying episodes, which will be very useful for the development of prevention and intervention programs.
Background:
Recent findings have shown a correlation between the intrathecal IgG index and variants at the immunoglobulin heavy chain (IGHC) locus in patients with multiple sclerosis (MS).
...Objectives:
The objective of this paper is to analyse the association of the locus with MS susceptibility and its relationship with intrathecal immunoglobulin (Ig) parameters.
Methods:
We genotyped the rs11621145 variant, located at the IGHC locus, in 2726 patients with MS and 2133 healthy controls. Associations of intrathecal IgG and IgM indexes with rs11621145 were analysed by linear regression analysis in 538 MS patients.
Results:
We found that rs11621145 showed statistically significant evidence for association with susceptibility to MS (odds ratio = 0.69, p = 1.053E-09), though validation of this result in additional cohorts would be desirable. We confirmed the association between the IgG index and the rs11621145 (p = 6.85E-07, Beta = 0.207). Furthermore, rs11621145 was inversely correlated with IgM index (p = 7.24E-04, Beta = -0.277), and therefore marks a decreased likelihood of presenting IgM oligoclonal bands (odds ratio = 0.38, p = 2.35E-06).
Conclusions:
Our results suggest that the polymorphism of the IGHC locus could be altering the switching of the Ig isotype in B cells and it may be interfering with T-dependent and T-independent antibody responses.
Epidemic outbreaks have significant impact on psychological well-being, increasing psychiatric morbidity among the population. We aimed to describe the early psychological impact of COVID-19 and its ...contributing factors in a large Spanish sample, globally and according to mental status (never mental disorder NMD, past mental disorder PMD, current mental disorder CMD).
An online questionnaire was conducted between 19 and 26 March, five days after the official declaration of alarm and the lockdown order. Data included sociodemographic and clinical information and the DASS-21 and IES questionnaires. We analysed 21 207 responses using the appropriate descriptive and univariate tests as well as binary logistic regression to identify psychological risk and protective factors.
We found a statistically significant gradient in the psychological impact experienced in five domains according to mental status, with the NMD group being the least affected and the CMD group being the most affected. In the three groups, the depressive response was the most prevalent (NMD = 40.9%, PMD = 51.9%, CMD = 74.4%,
= 1011.459,
< 0.001). Risk factors were female sex and classification as a case in any psychological domain. Protective factors were younger age and ability to enjoy free time. Variables related to COVID-19 had almost no impact except for having COVID-19 symptoms, which was a risk factor for anxiety in all three groups.
Our results can help develop coping strategies addressing modifiable risk and protective factors for each mental status for early implementation in future outbreaks.
To evaluate the proficiency of Spanish microbiology laboratories with respect to the antimicrobial susceptibility testing (AST) of Acinetobacter spp.
Eight Acinetobacter spp. with different ...resistance mechanisms were sent to 48 Spanish centres which were asked to report: (i) the AST system used; (ii) MICs; (iii) breakpoints used (CLSI versus EUCAST); (iv) clinical category; and (v) resistance mechanisms inferred. Minor, major and very major errors (mE, ME and VME, respectively) were determined.
The greatest percentages of discrepancies were: (i) by AST method: 18.5% Etest, 14.3% Vitek 2 and Sensititre; (ii) by breakpoints: 20.5% (CLSI) and 10.8% (EUCAST); and (iii) by antimicrobial agent: ampicillin/sulbactam (56.2% CLSI), minocycline (40.7% CLSI), tobramycin (38.7% CLSI, 16.8% EUCAST), imipenem (27.8% CLSI, 30.0% EUCAST) and meropenem (25.4% CLSI, 20.8% EUCAST). Categorical error rates: (i) by AST method ranged from 30.0% (Phoenix) to 100% (Sensititre and disc diffusion) for mE, 0.0% (Etest, Sensititre, disc diffusion) to 40% (Phoenix) for ME, and 0.0% (Sensititre and disc diffusion) to 30% (Phoenix) for VME; (ii) by breakpoints: mE (80.1% CLSI, 58.4% EUCAST), ME (3.5% CLSI, 12.4% EUCAST) and VME (16.4% CLSI, 29.2% EUCAST); and (iii) by antimicrobial agent: mE (100% levofloxacin/CLSI, 100% levofloxacin and meropenem/EUCAST), ME (35.3% colistin/CLSI, 25.0% colistin/EUCAST) and VME (64.7% colistin/CLSI, 86.7% gentamicin/EUCAST).
Clinical microbiology laboratories must improve their ability to determine antimicrobial susceptibilities of Acinetobacter spp. isolates. Higher discrepancies using CLSI when compared with EUCAST are mainly due to mE and to a much lesser extent to ME or VME.
Multiparametric flow cytometry was used to compare peripheral blood lymphocyte subset distribution between healthy working police Labrador Retrievers (LRs; n=12) and German Shepherd dogs (GS; n=11) ...living in the same environment. The CD4/CD8 ratio was significantly higher in LR than in GS because of the lower percentage of CD8+ T lymphocytes in LR. GS showed the highest relative percentage of CD3−/CD21− lymphocytes, whereas LR had the highest percentages of MHC II+ lymphocytes. Because age, sex, environmental and housing conditions, dietary patterns, and training or working routines were similar in both breeds in the study, differences in peripheral blood lymphocyte subset distribution could be attributed to the influence of breed on the immune system.
El presente artículo muestra el proceso seguido para diseñar e identificar las propiedades psicométricas del instrumento de evaluación del constructo Atención a la Diversidad como variable de ...contexto. Para ello, se ha comenzado con una pequeña revisión de los instrumentos utilizados para recoger información sobre la diversidad tanto cultural como social, lingü.stica o en capacidades. A continuación y, partiendo de una clasificación de los distintos enfoques teóricos, se ha construido un primer instrumento, apostando por un enfoque inclusivo. Posteriormente se procede a una validación por expertos. Tras la validación se toma la decisión de subdividir el instrumento original en cuatro instrumentos, uno por audiencia encuestada y por último al pilotaje del mismo. El análisis de la fiabilidad del instrumento nos lleva a la conclusión de que se trata de un cuestionario fiable para recoger información acerca de como afrontan los centros la Atención a la Diversidad.
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