Beyond Polycystic Kidney Disease

Tuberous sclerosis(TS) is an autosomal dominant disease caused by mutations in TSC1 and TSC2 genes. TSC2 gene is located in chromosome 16p13.3, adjacent to PKD1 gene, responsible for the autosomal dominant polycystic kidney disease. In a rare subgroup of patients, the presence of a deletion which simultaneously affects the TSC2 and PKD1 genes has been confirmed. TSC2/PKD1-Contiguous Gene Syndrome is characterised by the early appearance of autosomal dominant polycystic kidney disease in combination with several phenotypic manifestations of TS. We present a 13-year-old girl with bilateral renal cysts detected at the age of 9 months. At the age of 13, she was referred to the Dermatology Outpatients Clinic due to a facial cutaneous eruption. She presented with facial erythema, fibroadenomas with malar distribution and disseminated hypomelanotic macules, meeting the criteria for TS. TSC2/PKD1 Contiguous Gene Syndrome deletion was suspected, being later confirmed by genetic testing.info:eu-repo/semantics/publishedVersio

A sala de aula como espaço formativo dos bolsistas de iniciação à docência

Anais do II Seminário Seminário Estadual PIBID do Paraná: tecendo saberes / organizado por Dulcyene Maria Ribeiro e Catarina Costa Fernandes — Foz do Iguaçu: Unioeste; Unila, 2014O objetivo deste texto é apresentar as experiências adquiridas pelas autoras através do Programa Institucional de Bolsa de Iniciação à Docência (PIBID) do curso de Pedagogia do Instituto Federal do Paraná –Campus Palmas. Através deste programa nós acadêmicas temos possibilidades de vivenciar o cotidiano da sala de aula e a maneira que se dá o processo ensino-aprendizagem das crianças, as quais estão em fase de alfabetização. Neste sentido, estaremos agregando às teorias estudadas no Curso de graduação a prática adquirida na escola, a qual complementa a nossa formação quanto acadêmica e profissiona

Urban Green Spaces, Greenness Exposure and Species Richness in Residential Environments and Relations with Physical Activity and BMI in Portuguese Adolescents

Environmental factors play an important role in obesity-related behaviors. Evidence indicates significant associations between weight and urban green spaces in adults, but it is not clear whether this relationship applies to adolescents. Therefore, our aim was to determine the associations between urban green spaces, greenness exposure and species richness in residential environments with physical activity and body mass index. Sixty-two adolescents between 12 and 18 years of age answered a self-administered questionnaire, providing information on height, weight, age, sex and home address. Data on socioeconomic deprivation were obtained from the European Index of Deprivation for Small Portuguese Areas. Physical activity levels were assessed using accelerometers. Urban green space counts and the normalized difference vegetation index values were measured using buffers along the roads with distances of 300, 500, 1000 and 1500 m from each participant’s residence. To quantify the species richness, the species richness index was used. Linear regression models were fitted to analyze whether urban green spaces, exposure to green spaces and species richness counts for each distance were associated with physical activity and self-reported body mass index. We did not find significant associations between the independent variables and the probability of overweight or obesity. The relationship between environmental variables, adolescents’ physical activity and body weight seems to be complex and further studies may contribute to better understanding of the topic.This research was funded by FEDER through the Operational Program for Competitiveness and Internationalization and received national funding from the Foundation for Science and Technology—FCT (Portuguese Ministry of Science, Technology and Higher Education), under the Research Center in Physical Activity, Health and Leisure (CIAFEL) (UIDB/00617/2020) and also under the Epidemiology Research Unit (EPIUnit)—Institute of Public Health of the University of Porto (info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB/04750/2020/PT). Ana Isabel Ribeiro was supported by national funds through FCT, under the ‘Stimulus of Scientific Employment—Individual Support’ program within the contract info:eu-repo/grantAgreement/FCT/CEEC IND 2018/CEECIND/02386/2018/CP1538/CT0001/PT

Influence of cardiorespiratory fitness and parental lifestyle on adolescents' abdominal obesity

The aims of this study were (1) to analyse the influence of cardiorespiratory fitness (CRF) and parental overweight status (POS) and socioeconomic status (SES) on abdominal obesity. This study was comprised of 779 adolescents (12-18 years). Waist-height ratio (WHtR), 20 m shuttle-run test to ascertain CRF, POS according to World Health Organization recommendations and SES of parents using level of education were analysed. Using WHtR, the prevalence of abdominal obesity was 21.3% (23.5% girls and 17.9% boys; p = 0.062). Regardless of gender, participants who belonged to the WHtR risk group had significantly (p ≤ 0.05) lower CRF scores than the WHtR non-risk group; 84.4% of girls who belonged to the WHtR risk group had one or two overweight parents (p ≤ 0.05). Boys with low CRF (OR: 6.43; CI: 3.33-12.39) were more likely to belong to the WHtR risk group compared with their lean peers. Girls with low CRF (OR: 1.78; CI: 1.14-2.78) and with at least one overweight parent (OR: 2.50; CI: 1.07-5.85) or two overweight parents (OR: 4.90; CI: 2.08-11.54) were associated with the risk of abdominal obesity. This study highlights the influence of adolescents' family on abdominal obesity, especially in girls. Further, the data suggested that low CRF was a strong predictor of risk values of abdominal obesity in adolescence

Acute myelogenous leukemia presenting as diabetes insipidus

Central diabetes insipidus, is a syndrome characterized by the excretion of abnormally elevated volumes of diluted urine, due to the diminution of reabsorption of water in the collecting ducts, induced by the diminution of production of antidiuretic hormone. The involvement of the central nervous system in the leukaemia is frequent, but the association leukaemia/diabetes insipidus is rare. We describe a clinical case of a 40 years old female, whose first manifestation of leukaemia was diabetes insipidus; we discuss the difficulties of diagnosis, the particularities of the case and its evolution

A double-edged sword: Residents' views on the health consequences of gentrification in Porto, Portugal

Gentrification is currently shaping the urban environment in important ways. It also contributes to shaping the health of the inhabitants of gentrifying cities, although it is still unclear how. Gentrification processes are often linked to different drivers and have specific local translations, further complicating the study of the relationship between gentrification and health. We investigated this relationship in Porto, Portugal, a southern European city undergoing rampant transnational gentrification. In order to study how gentrification impacts health from the point of view of that city's residents, we conducted a study using photovoice with a sample of participants recruited from a population-based cohort, which was divided into three different groups: one from gentrifying areas of Porto, another from deprived non-gentrifying areas, and the other from affluent areas. The thematic analysis of data generated six themes, each referring to a change, or a set of connected changes, related to gentrification: increasing floating population, lack of housing access and displacement, construction and rehabilitation, changing local commerce, loss of place, and broader socioeconomic change. According to the accounts from participants, these changes affect health in different ways, both beneficial and harmful. Participants also reflected on how to act on this issue. This research adds to the knowledge about the relationship between gentrification and health by providing detailed and nuanced views about this relationship considering its city-wide impacts.This work was supported by FEDER through the Operational Programme Competitiveness and Internationalisation and national funding from the Foundation for Science and Technology – FCT (Portuguese Ministry of Science, Technology and Higher Education) under the Unidade de Investigação em Epidemiologia - Instituto de Saúde Pública da Universidade do Porto (EPIUnit) (UIDB/04750/2020) and Laboratório para an Investigação Integrativa e Translacional em Saúde Populacional (ITR) (LA/P/0064/2020); and the project “HUG: The health impacts of inner-city gentrification, displacement and housing insecurity: a quasi-experimental multi-cohort study” (PTDC/GES-OUT/1662/2020); Ana Isabel Ribeiro was supported by National Funds through FCT, under the ‘Stimulus of Scientific Employment – Individual Support’ programme within the contract CEECIND/02386/2018. The funding sources had no role in the research conducted neither in the preparation of this article

Completeness of Retention Data and Determinants of Attrition in Birth Cohorts of Very Preterm Infants: A Systematic Review

Background: Birth cohorts provided essential knowledge for clinical and public health decision-making. However, little is known about retention and determinants of attrition in these specific longitudinal studies, although characterizing predictors of attrition sets the path to mitigate its occurrence and to promote valid inferences. We systematically reviewed retention in follow-ups of birth cohorts of very preterm or very low birth weight infants and the determinants of attrition. PROSPERO registration number: CRD42017082672. Methods: Publications were identified through PubMed®, Scopus, Web of Science, and Cochrane Library databases from inception to December 2017. Studies were included when reporting at least one of the following: retention at follow-ups, reasons for attrition, or characteristics of non-participants. Quality assessment was conducted using the completeness of the report of participation features in the articles. Non-participant's characteristics were presented using descriptive statistics. Local polynomial regression was used to describe overall retention trends over years of follow-up. Results: We identified 57 eligible publications, reporting on 39 birth cohorts and describing 83 follow-up evaluations. The overall median retention was 87% (p25–p75:75.8–93.6), ranging from 14.6 to 100%. Overall, retention showed a downward trend with increasing child age. Completeness of retention report was considered “enough” in only 36.8% of publications. Considering the 33 (57.9%) publications providing information on participants and non-participants, and although no formal meta-analysis was performed, it was evident that participants lost to follow-up were more often male, had foreign-born, multiparous, and younger mothers, and with a lower socioeconomic status. Conclusion: This systematic review evidenced a lack of detailed data on retention, which may threaten the potential use of evidence derived from cohort studies of very preterm infants for clinical and public health purpose. It supports the requirement for a standardized presentation of retention features responding to current guidelines.This work was supported by RECAP-Preterm project that is funded by the European Union's Horizon 2020 research and innovation program under Grant Agreement No. 733280. This study was also funded by Foundation for Science and Technology—FCT (Portuguese Ministry of Science, Technology and Higher Education), under the Unidade de Investigação em Epidemiologia—Instituto de Saúde Pública da Universidade do Porto (EPIUnit) (info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB/04750/2020/PT); Ana Cristina Santos holds a FCT Investigator contract info:eu-repo/grantAgreement/FCT/Investigador FCT/IF/01060/2015/CP1319/CT0001/PT

Patterns of Parental Reactions to Their Children’s Negative Emotions: A Cluster Analysis with a Clinical Sample

Parents' emotion socialization practices are an important source of influence in the development of children's emotional competencies This study examined parental reactions to child negative emotions in a clinical sample using a cluster analysis approach and explored the associations between clusters of parents' reactions and children's and parents' adjustment. The sample comprised 80 parents of Portuguese children (aged 3-13 years) attending a child and adolescent psychiatry unit. Measures to assess parental reactions to children's negative emotions, parents' psychopathological symptoms, parents' emotion dysregulation, and children's adjustment were administered to parents. Model-based cluster analysis resulted in three clusters: low unsupportive, high supportive, and inconsistent reactions clusters. These clusters differed significantly in terms of parents' psychopathological symptoms, emotion dysregulation, and children's adjustment. A pattern characterized by high supportive reactions to the child's emotions was associated with higher levels of children's adjustment. On the other hand, an inconsistent reactions pattern was associated with the worst indicators of children's adjustment and parental emotion dysregulation. These results suggest the importance of supporting parents of children with emotional and behavioural problems so that they can be more responsive to their children's emotional manifestations.info:eu-repo/semantics/publishedVersio

Quantum correlations in spin models

Bell nonlocality, entanglement and nonclassical correlations are different aspects of quantum correlations for a given state. There are many methods to measure nonclassical correlations. In this paper, nonclassical correlations in two-qubit spin models are measured by use of measurement-induced disturbance (MID) [Phys. Rev. A, 77, 022301 (2008)] and geometric measure of quantum discord (GQD) [Phys. Rev. Lett. 105, 190502 (2010)]. Their dependencies on external magnetic field, spin-spin coupling, and Dzyaloshinski-Moriya (DM) interaction are presented in detail. We also compare Bell nonlocality, entanglement measured by concurrence, MID and GQD and illustrate their different characteristics.Comment: 1 text and 5 eps figures, accepted by Annals of Physic