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Resistance to change (RTC) is the tendency to have a negative attitude toward change. It is a relevant construct in adolescence because change can be perceived as a challenge to the formation of an integrated independent identity: the primary developmental task of this period. Currently, there are no validated measures of RTC for adolescents. To address this research gap, we tested the psychometric properties of the Resistance to Change Scale in a sample of adolescents from Portugal. Confirmatory factor analyses supported modeling the RTC scale via a bifactor model. Statistical indices indicated that RTC scale scores were largely unidimensional. When this model was applied, RTC was positively related with trait reactance, negatively related with wellbeing, and linked to high Harm Avoidance and low Self-Directedness personality dimensions. The bifactor model was equivalent across gender and early vs. late adolescent groups. Our findings suggest that the RTC scale is a psychometrically sound and potentially useful tool for researchers and educators who wish to measure RTC in adolescents.

Background: Knowledge on clinical profiles of late-onset phenotypes of Fabry disease (FD) is essential to better define their natural history. Our study aims to demonstrate a founder effect of FD due to the GLA gene mutation c.337T>C (p.F113L) in the Portuguese region of Guimarães; and to characterize the clinical profile of this late-onset phenotype in a large cohort of genetically related adult patients, living in the same region., Methods and Results: FD screening was performed in 150 adult patients with hypertrophic cardiomyopathy (HCM) and found 25 Fabry patients (16.6%). The p.F113L mutation was found in 21 of them, leading to a genealogy study and haplotype analysis of the p.F113L patients. Genealogy research revealed a 12-generation family tree with a common ancestor to p.F113L patients, suggesting a founder effect that was supported by haplotype findings. Pedigree analysis was performed and 120 consecutive p.F113L patients underwent a predefined diagnostic evaluation of FD multiorgan involvement. This late-onset phenotype was characterized by common and/or potentially severe cardiac manifestations (left ventricular hypertrophy 40.8%, atrial fibrillation 5%, non-sustained ventricular tachycardia 12.5%, atrioventricular block 18.3%, bifascicular block 13.4%). Extracardiac manifestations included albuminuria>30 mg/24 h 36.1%, chronic kidney disease≥G3 7.6%, brain white matter lesions 54.4%, stroke 3.3%, sensorineural deafness 44.5%, cornea verticillata 13.9%. Plasma lyso-GB3 was undetectable in females, regardless of clinical manifestations., Conclusion: A founder effect of FD due to p.F113L mutation was documented by genealogy and genetics in a Portuguese region. In this late-onset phenotype, although cardiac manifestations carry the highest prognostic impact, extracardiac involvement is common., (Copyright © 2019 The Authors. Published by Elsevier Inc. All rights reserved.)

Background: Cardiomyopathy is a major determinant of overall Fabry disease (FD) prognosis, with the worst outcomes in patients with myocardial fibrosis. Late gadolinium enhancement is currently the gold standard for evaluation of replacement myocardial fibrosis; however, this event is irreversible, thus identification of biomarkers of earlier diffuse fibrosis is paramount., Methods and Results: Type I collagen synthesis and degradation biomarkers (PICP [carboxyterminal propeptide of procollagen type I], ICTP [carboxyterminal telopeptide of type I collagen], and MMP1 [matrix metalloproteinase 1] and MMP2) and markers of bone synthesis and degradation were evaluated (to adjust type I collagen metabolism to bone turnover) in FD patients and controls. FD patients were grouped by cardiomyopathy severity, according to echocardiogram: (1) normal, (2) tissue Doppler abnormalities, (3) left ventricular hypertrophy. A significant increase in PICP and a significant decrease in matrix metalloproteinases were observed in FD patients; even the group with normal echocardiogram had a significant increase in PICP. We also found a significant correlation between left ventricular mass and PICP (ρ=0.378, P =0.003) and MMP1 (ρ=-0.484, P <0.001). PICP (adjusted for bone turnover) was the better predictor of left ventricular mass in multivariable regression, and its diagnostic accuracy to predict late gadolinium enhancement was also significant., Conclusions: Collagen type I synthesis is increased in FD cardiomyopathy, even in the earlier stages of the disease, and this profibrotic state has good predictive value for and is likely to be critical to the development of overt left ventricular hypertrophy. Moreover, inhibition of enzymes involved in collagen type I cleavage also seems crucial to myocardial collagen deposition., (© 2018 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley.)

Introduction: The obstructive sleep apnoea syndrome (OSAS) is a common, complex and polygenic disease with diverse aetiologies interacting to produce a single phenotype. OSAS occurs throughout the entire lifespan and familial aggregation has been suggested. Several predisposing factors, as age, gender and obesity have been described. Associations between HLA polymorphisms and sleep disorders are confirmed, in European and Non-European descendent populations. However the associations found between HLA alleles and OSAS have not been consistent and have no informative value for sleep disorder classification., Aims: To explore the genetic association of HLA with OSAS in a northern Portuguese population and to evaluate the role of obesity in the context of HLA in OSAS., Patients and Methods: A cohort of 131 patients with OSAS was studied. Patients followed up in an Outpatient Sleep Clinic were assessed by clinical history, night sleep polygraphic recording, multiple sleep latency test (when necessary for differential diagnosis), laboratorial and demographic studies. A control population (CP) of 223 healthy individuals was used for comparison. HLA-DRB1 genotyping was performed using a polymerase chain reaction with sequence specific primers methodology., Results: In this cohort, the HLA-DRB1*03 allele was identified as a susceptibility factor for OSAS (24% OSAS vs. 15% CP; p = 0.025; odds ratio = 1.861; 95% CI = 1.081-3.205). No significant differences were found for other HLA-DBR1* alleles., Conclusion: HLA-DRB1*03 is a susceptibility factor for OSAS in Portuguese population.

Introduction: The determination of human leukocyte antigen (HLA) class II genotype is widely used to confirm the diagnosis of narcolepsy with or without cataplexy. The HLA genotyping is reliable, easy to perform and reassures the clinician. It is also less invasive than other methodologies and is in accordance with the autoimmune hypothesis for the origin of narcolepsy. AIM. To assess the usefulness of genetic markers (HLA) in the differential diagnosis between different sleep disorders and their relevance in the context of our population., Subjects and Methods: We analyzed a cohort of 113 patients with episodes of daytime sleepiness, 38 patients were classified as narcolepsy with cataplexy, 13 as narcolepsy and 62 as hypersomnia/idiopathic hypersomnia. A control population of 206 reportedly healthy individuals from the same geographic origin was used., Results: The HLA-DQB1*06:02 allele frequency was overrepresented in patients with narcolepsy and narcolepsy with cataplexy (46% and 71% respectively vs. 16% in control population), with a value of p = 4.53-13 for narcolepsy with cataplexy. The HLA-DQB1*02 frequency was increased in the population with hypersomnia when compared with the control population (55% vs. 34%; p = 0.004)., Conclusions: Genetic characterization has the potential to enhance the ability to carry out differential diagnosis among diverse excessive daytime sleepiness phenotypes, corresponding to diverse entities with different biological mechanisms.

One of the obstacles to more frequent and appropriate use of cardiac magnetic resonance (CMR) in Portugal has been the lack of specific codes that accurately describe these examinations as they are currently performed. In this consensus document, recommendations are made for updating and standardizing CMR codes in Portugal. Guidance on which techniques and codes should be used in the most common clinical scenarios is also provided., (Copyright © 2012 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.)

Objective: The authors studied 14 children with myocarditis in order to correlate clinical and laboratorial data with evolution., Design: Retrospective study of all cases with myocarditis admitted during a 2 year period., Setting: Unidade de Cardiologia Pediátrica do HSJ., Patients: 14 patients, aged 7 to 34 months, with the diagnosis of myocarditis on the ground of biopsy or necropsy findings. The clinical data analysed were: medical history, physical examinations, hematological and biochemical studies, chest X ray, electro and echocardiogram, virus and immunological studies and cardiac catheterization., Results: All the patients had congestive heart failure and 10 had a history of a previous viral infection. Those who survived the first week were submitted to hematological and biochemical studies, chest X Ray, electrocardiogram, echocardiogram, virological and immunological studies and cardiac catheterization. All patients were treated with captopril and furosemide, 11 received dobutamine and 6 an immunosuppressive regime. Six patients died in the first week and one, nine months after diagnosis. One patient had an unfavourable course and the other six improved clinically., Conclusions: The authors were not able to find any correlation between laboratorial data and the disease outcome. Age less than one year and an abrupt onset were associated with 100% mortality. Immunosuppression was associated with improvement in 66% of the patients.