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1.
J Fam Nurs ; : 10748407241226955, 2024 Jan 29.
Artículo en Inglés | MEDLINE | ID: mdl-38284366

RESUMEN

Illness beliefs have a role in the adaptation, coping, well-being, healing, and recovery in families of children/adolescents with chronic illness. The assessment of family illness beliefs can support family nursing interventions that address the suffering of family members when illness arises. The purpose of this study was to translate, cross-culturally adapt, and psychometrically test the Portuguese version of the Iceland-Family Illness Beliefs Questionnaire. A sample of 237 parents of children/adolescents who experienced chronic health conditions completed the online questionnaire. The original factor model was tested through confirmatory factorial analysis. The results showed satisfactory model fit indices (χ2/gl = 3.004; comparative fit index [CFI] = 0.90; root mean square error of approximation [RMSEA] = 0.092) and internal consistency (Cronbach's α = 0.74). The instrument showed good psychometric characteristics of validity and reliability, suggesting it may be useful in the assessment of illness beliefs in families experiencing a pediatric chronic illness.

2.
BMC Med Imaging ; 22(1): 61, 2022 04 02.
Artículo en Inglés | MEDLINE | ID: mdl-35366812

RESUMEN

BACKGROUND: Thyroid nodules are a challenge in clinical practice and thyroid ultrasonography is essential for assessing the risk of malignancy. The use of ultrasound-based malignancy risk classification systems has been recommended by several scientific societies but radiologist's adherence to these guidelines may vary. The authors aimed to analyze the quality of the information provided by the thyroid ultrasound report, to assess the malignancy risk of thyroid nodules, in Portugal. METHODS: Multicenter and retrospective study, conducted in three of the five Portuguese NUTS2 corresponding to about 88.3% of the mainland population. We included 344 consecutive unselected participants aged ≥ 18 years who underwent thyroid ultrasonography in 2019. The description of six features of the dominant thyroid nodule was analyzed: maximum size, shape, margins, composition, echogenicity and echogenic foci. A utility score, including these six features, was used as an indicator of the report's quality. A score of 4 was considered as a minimum value. RESULTS: Maximum diameter was reported for all nodules. Shape, margins, composition, echogenicity and echogenic foci were reported in 8.1%, 25.0%, 76.5%, 53.2% and 20.9%, respectively. Only 21.8% of the nodules had a score ≥ 4. At least one of four suspicious features, including marked hypoechogenicity, microcalcifications, irregular margins and non-oval shape, was identified in 8.7% of the nodules. Cervical lymph nodes' status was reported in 93% of the exams. The risk category was only reported in 7.8% of the participants. CONCLUSION: The adherence of Portuguese radiologists to a standardized reporting model and to an ultrasound-based malignancy risk stratification system is still low and has implications for the correct characterization of the malignancy risk of nodules and the decision to perform fine-needle aspiration biopsy.


Asunto(s)
Nódulo Tiroideo , Adolescente , Humanos , Estudios Retrospectivos , Medición de Riesgo , Nódulo Tiroideo/diagnóstico por imagen , Nódulo Tiroideo/patología , Ultrasonografía
3.
Scand J Caring Sci ; 36(1): 90-99, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-33599996

RESUMEN

INTRODUCTION: The Self-Care Dependency Evaluation Form assesses dependency in performing self-care activities, but its original version is extensive and provides redundant information. The present study aims to scrutinise the items of the scale with the purpose of creating a revised version and to evaluate its psychometric properties. METHODS: The study was conducted in two phases. In the first phase, an exploratory and correctional analysis of the items of the original form was performed from a database with 282 participants, followed by a review by a panel of experts who analysed the discriminatory ability and the contribution and relevance of each item, which resulted in the revised version. In the second phase, a new study with a sample comprising 150 participants was conducted to test the psychometric properties of the revised version. All ethical aspects and matters of confidentiality and privacy were assured. RESULTS: The scale with 27 items shows good internal consistency, ranging from 0.67 (taking medication) to 0.96 (walking). It was moderately correlated with the Barthel Index and the Lawton and Brody Scale, proven to be a discriminatory measurement instrument. DISCUSSION/CONCLUSION: This measure will enable health professionals to better evaluate self-care activities and provide more efficient, simple and effective prescriptions.


Asunto(s)
Autocuidado , Autoevaluación (Psicología) , Personal de Salud , Humanos , Psicometría , Reproducibilidad de los Resultados , Encuestas y Cuestionarios
4.
Rheumatology (Oxford) ; 61(1): 53-75, 2021 12 24.
Artículo en Inglés | MEDLINE | ID: mdl-34152386

RESUMEN

OBJECTIVES: Osteoarthritis (OA) is a chronic degenerative musculoskeletal disease that causes articular damage and chronic pain, with a prevalence of up to 50% in individuals >60 years of age. Patients suffering from chronic painful conditions, including OA, also frequently report anxiety or depression. A systematic review and meta-analysis were performed to assess the correlation between pain severity and depressive and anxious symptomatology in OA patients. METHODS: A systematic search was conducted using four databases (PubMed, Medline, Scopus, and Web of Science) from inception up to 14 January 2020. We included original articles evaluating pain severity and anxiety and/or depression severity in OA-diagnosed patients. Detailed data were extracted from each study, including patients' characteristics and pain, anxiety, and depression severity. When available, the Pearson correlation coefficient between pain and depression severity and pain and anxiety severity was collected, and a meta-analysis of random effects was applied. RESULTS: This systematic review included 121 studies, with a total of 38 085 participants. The mean age was 64.3 years old, and the subjects were predominantly female (63%). The most-used scale to evaluate pain severity was the Western Ontario and the McMaster Universities Osteoarthritis Index, while for anxiety and depression, the Hospital Anxiety and Depression Scale was the most used. The meta-analysis showed a moderate positive correlation between pain severity and both anxious (r = 0.31, P <0.001) and depressive symptomatology (r = 0.36, P <0.001). CONCLUSION: Our results demonstrate a significant correlation between pain and depression/anxiety severity in OA patients, highlighting the need for its routine evaluation by clinicians.


Asunto(s)
Ansiedad/etiología , Depresión/etiología , Osteoartritis/psicología , Dolor/psicología , Humanos , Osteoartritis/complicaciones , Dolor/etiología , Dimensión del Dolor
5.
Angew Chem Int Ed Engl ; 60(18): 10064-10072, 2021 04 26.
Artículo en Inglés | MEDLINE | ID: mdl-33599093

RESUMEN

In recent years, extensive sequencing and annotation of bacterial genomes has revealed an unexpectedly large number of secondary metabolite biosynthetic gene clusters whose products are yet to be discovered. For example, cyanobacterial genomes contain a variety of gene clusters that likely incorporate fatty acid derived moieties, but for most cases we lack the knowledge and tools to effectively predict or detect the encoded natural products. Here, we exploit the apparent absence of a functional ß-oxidation pathway in cyanobacteria to achieve efficient stable-isotope-labeling of their fatty acid derived lipidome. We show that supplementation of cyanobacterial cultures with deuterated fatty acids can be used to easily detect natural product signatures in individual strains. The utility of this strategy is demonstrated in two cultured cyanobacteria by uncovering analogues of the multidrug-resistance reverting hapalosin, and novel, cytotoxic, lactylate-nocuolin A hybrids-the nocuolactylates.


Asunto(s)
Productos Biológicos/análisis , Cianobacterias/química , Descubrimiento de Drogas , Ácidos Grasos/análisis , Cianobacterias/genética , Cianobacterias/metabolismo , Marcaje Isotópico , Familia de Multigenes , Oxidación-Reducción
6.
Headache ; 60(3): 607-614, 2020 03.
Artículo en Inglés | MEDLINE | ID: mdl-32022265

RESUMEN

BACKGROUND: Headache in ischemic stroke survivors after the acute stage is incompletely described. OBJECTIVE: We aimed to prospectively describe the characteristics of headache and the predictors of headache at the chronic stage after ischemic stroke. METHODS: We conducted a prospective observational cohort study including 102 acute ischemic stroke patients admitted to a Stroke Unit. Patients were interviewed at the acute and the chronic stage (12 months after stroke). Characteristics of those headaches were collected using a previously validated headache questionnaire enabling headache classification following the International Headache Society criteria. Pre-stroke headache history was registered using the same instrument. RESULTS: Forty-five patients out of 89 with completed follow-up (51%) reported headache at the chronic stage. In most of the patients, headache was sporadic, mild, pressure-like, with a duration of minutes to hours, with characteristics of tension-type headache in 51% (n = 23/45). Headache was a reactivation of pre-stroke headache in 33% (n = 15/45), different from pre-stroke headache in 44% (n = 20/45), and of new-onset in 22% (n = 10/45). Only 1 patient had a new-onset headache at the acute stage that persisted with the same characteristics at the chronic stage. Pre-stroke headache (OR = 5.3; 95% CI [2.01-13.98] P = .001) and female sex (OR = 3.5; 95% CI [1.3-9.4] P = .013) predicted headache at the chronic stage after stroke, controlling for age, severity, and location of stroke. CONCLUSIONS: Headache in ischemic stroke survivors at the chronic stage is more frequent in women and in patients with pre-stroke headache. It is most frequently a headache with different characteristics of the pre-stroke headache and only rarely a new-onset headache starting at the acute stage and persisting at the chronic stage.


Asunto(s)
Cefalea/etiología , Accidente Cerebrovascular Isquémico/complicaciones , Cefalea de Tipo Tensional/etiología , Enfermedad Aguda , Anciano , Enfermedad Crónica , Femenino , Estudios de Seguimiento , Cefalea/fisiopatología , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Factores Sexuales , Cefalea de Tipo Tensional/fisiopatología
7.
J Phycol ; 56(1): 208-216, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-31643075

RESUMEN

The McMurdo Dry Valleys constitute the largest ice-free region of Antarctica and one of the most extreme deserts on Earth. Despite the low temperatures, dry and poor soils and katabatic winds, some microbes are able to take advantage of endolithic microenvironments, inhabiting the pore spaces of soil and constituting photosynthesis-based communities. We isolated a green microalga, Endolithella mcmurdoensis gen. et sp. nov, from an endolithic sandstone sample collected in the McMurdo Dry Valleys (Victoria Land, East Antarctica) during the K020 expedition, in January 2013. The single non-axenic isolate (E. mcmurdoensis LEGE Z-009) exhibits cup-shaped chloroplasts, electron-dense bodies, and polyphosphate granules but our analysis did not reveal any diagnostic morphological characters. On the basis of phylogenetic analysis of the 18S rRNA (SSU) gene, the isolate was found to represent a new genus within the family Chlorellaceae.


Asunto(s)
Chlorella , Extremófilos , Regiones Antárticas , Filogenia , ARN Ribosómico 18S , Análisis de Secuencia de ADN
8.
Scand J Caring Sci ; 34(1): 69-77, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-31149747

RESUMEN

The reduction of the functional capacity in older people is the result of physical, psychological and functional changes related to the ageing process, compromising the performance of daily life activities. Assessing their functional capacity and their self-care profile can facilitate the planning of targeted strategies related to stimulation, as well as cognitive and motor rehabilitation. This study aims to evaluate and analyse the functional capacity, as well as the level of dependence in self-care of older people in senior care centres. This is a transversal exploratory study, quantitative in nature. The sample was comprised of 313 participants, randomly selected from a set of senior care centres, with an average age of 83.41 (SD=7.14) years, recruited from the interior North of Portugal. The data collection instruments included the Barthel Index, the Lawton and Brody Scale, the Evaluation Form of Dependence in Self-care, the Self-care of Home Dwelling Elderly (self-care subscale profiles) and a questionnaire on demographic data. The elderly showed several levels of dependence on different self-care items. It was possible to observe that the staff often replaces the elderly in many of the tasks that could still be performed by them, and thus aggravates their levels of dependence. The link observed between functional capacity and self-care profiles highlights the need to focus on the notion of a healthy and active ageing process, especially in some profiles. The monitoring of the functional capacity and the self-care profile can provide knowledge concerning the potential for autonomy and individual needs, thus enabling targeted and more responsive interventions for the individual and the real needs of older people.


Asunto(s)
Actividades Cotidianas , Hogares para Ancianos/organización & administración , Autocuidado , Anciano , Anciano de 80 o más Años , Femenino , Anciano Frágil , Humanos , Masculino , Portugal , Encuestas y Cuestionarios
9.
Nat Prod Rep ; 36(10): 1437-1461, 2019 10 16.
Artículo en Inglés | MEDLINE | ID: mdl-30702733

RESUMEN

Covering: up to 2019 Alkylresorcinols are amphiphilic metabolites, well-known for their diverse biological activities, produced by both prokaryotes and eukaryotes. A few classes of alkylresorcinol scaffolds have been reported from the photoautotrophic cyanobacteria, ranging from the relatively simple hierridins to the more intricate cylindrocyclophanes. Recently, it has emerged that cyanobacteria employ two different biosynthetic pathways to produce unique alkylresorcinol scaffolds. However, these convergent pathways intersect by sharing biosynthetic elements which lead to common structural motifs. To obtain a broader view of the biochemical diversity of these compounds in cyanobacteria, we comprehensively cover the isolation, structure, biological activity and biosynthesis of their mono- and dialkylresorcinols. Moreover, we provide an overview of the diversity and distribution of alkylresorcinol-generating biosynthetic gene clusters in this phylum and highlight opportunities for discovery of novel alkylresorcinol scaffolds. Because some of these molecules have inspired notable syntheses, different approaches used to build these molecules in the laboratory are showcased.


Asunto(s)
Cianobacterias/metabolismo , Resorcinoles/química , Resorcinoles/farmacología , Cianobacterias/genética , Estructura Molecular , Familia de Multigenes , Resorcinoles/metabolismo
10.
Bioinformatics ; 34(17): 3052-3054, 2018 09 01.
Artículo en Inglés | MEDLINE | ID: mdl-29668830

RESUMEN

Summary: Ca2+ is a central second messenger in eukaryotic cells that regulates many cellular processes. Recently, we have indicated that typical Ca2+ signals are not purely oscillatory as widely assumed, but exhibit stochastic spiking with cell type and pathway specific characteristics. Here, we present the Calcium Signaling Analyzer (CaSiAn), an open source software tool that allows for quantifying these signal characteristics including individual spike properties and time course statistics in a semi-automated manner. CaSiAn provides an intuitive graphical user interface allowing experimentalists to easily process a large amount of Ca2+ signals, interactively tune peak detection, revise statistical measures and access the quantified signal properties as excel or text files. Availability and implementation: CaSiAn is implemented in Java and available on Github (https://github.com/mmahsa/CaSiAn) as well as on the project page (http://r3lab.uni.lu/web/casa). Supplementary information: Supplementary data are available at Bioinformatics online.


Asunto(s)
Señalización del Calcio , Programas Informáticos , Humanos
11.
Int J Mol Sci ; 20(9)2019 May 07.
Artículo en Inglés | MEDLINE | ID: mdl-31067698

RESUMEN

We review the contribution of bioimaging in building a coherent understanding of Ca 2 + signalling during legume-bacteria symbiosis. Currently, two different calcium signals are believed to control key steps of the symbiosis: a Ca 2 + gradient at the tip of the legume root hair is involved in the development of an infection thread, while nuclear Ca 2 + oscillations, the hallmark signal of this symbiosis, control the formation of the root nodule, where bacteria fix nitrogen. Additionally, different Ca 2 + spiking signatures have been associated with specific infection stages. Bioimaging is intrinsically a cross-disciplinary area that requires integration of image recording, processing and analysis. We used experimental examples to critically evaluate previously-established conclusions and draw attention to challenges caused by the varying nature of the signal-to-noise ratio in live imaging. We hypothesise that nuclear Ca 2 + spiking is a wide-range signal involving the entire root hair and that the Ca 2 + signature may be related to cytoplasmic streaming.


Asunto(s)
Señalización del Calcio , Fabaceae/metabolismo , Simbiosis , Fabaceae/microbiología , Microscopía Fluorescente/métodos , Rhizobium/metabolismo , Rhizobium/patogenicidad
12.
Geriatr Nurs ; 40(1): 7-12, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-29909023

RESUMEN

The objective was to evaluate the metric properties of the List of Advanced Activities of the Daily Living. A study quantitative was conducted. The sample comprised 200 older adults from the city of Pouso Alegre, Brazil. The following instruments were employed: 1- Questionnaire sociodemographic and health; 2- Vitor Quality of Life Scale for the Elderly (VITOR QLSE); and 3 - List of Advanced Activities in Daily Life - AAVDs. It was verified through the exploratory factorial analysis that the list possesses three denominated domains of Activities of Leisure, Social Activities and Productive Activities. The three-factor solution explained 58.18% of total variance: 30% by the first factor, 18.03% by the second, and 10.14% by the third. The coefficient alpha for the overall scale was 0.80. The list of AADLs presented reliable and valid metric properties to be applied in the elderly.


Asunto(s)
Actividades Cotidianas , Evaluación Geriátrica , Psicometría , Anciano , Brasil , Femenino , Humanos , Masculino , Calidad de Vida , Reproducibilidad de los Resultados , Encuestas y Cuestionarios
13.
Chem Biodivers ; 15(7): e1800076, 2018 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-29790299

RESUMEN

Apocarotenoids are widely distributed among living organisms (bacteria, fungi, algae, plants and even animals) and have been associated with several signaling functions. These compounds are generated by the activity of carotenoid cleavage dioxygenases (CCDs), whose diversity greatly contributes to the large number of apocarotenoids that have been described so far. It is nevertheless expected that a considerable diversity of these molecules is yet to be discovered. In this work, we describe the isolation and structural elucidation of the apocarotenoid 4-oxo-ß-apo-13-carotenone from the cultured freshwater cyanobacterium Anabaena cylindrica PCC 7122, corresponding to the first report of this compound from natural sources.


Asunto(s)
Anabaena/química , Carotenoides/química , Estructura Molecular
14.
J Adv Nurs ; 74(5): 1114-1126, 2018 May.
Artículo en Inglés | MEDLINE | ID: mdl-29288510

RESUMEN

AIM: To evaluate the short-term efficacy of a psychotherapeutic intervention in nursing on Portuguese adult psychiatric outpatients with the nursing diagnosis "anxiety." BACKGROUND: Several efficacious forms of treatment for anxiety are available, including different forms of psychotherapy and pharmacotherapy. However, literature tends to favour findings from studies on the efficacy of psychotherapies and therapies provided by nurses to the detriment of those arising from studies on the efficacy of nursing psychotherapeutic interventions (interventions which are classified, for instance, on Nursing Interventions Classification). DESIGN: Randomized controlled trial. METHODS: The study was performed, between November 2016 - April 2017, at a psychiatry outpatient ward. Participants were randomly allocated to an intervention group (N = 29) or a treatment-as-usual control group (N = 31). Patients in the intervention group received psychopharmacotherapy with interventions integrated in the Nursing Interventions Classification for the nursing diagnosis "anxiety." A treatment-as-usual control group received only psychopharmacotherapy (if applicable). Anxiety level and anxiety self-control were the primary outcomes. RESULTS: Patients from both groups had reduced anxiety levels, between the pre-test and the posttest assessment; however, according to analysis of means, patients in the intervention group displayed significantly better results than those of the control group. Furthermore, only patients in the intervention group presented significant improvements in anxiety self-control. CONCLUSION: This study demonstrated the short-term efficacy of this psychotherapeutic intervention model in nursing in the decrease of anxiety level and improvement of anxiety self-control in a group of psychiatric outpatients with pathological anxiety. TRIAL REGISTRATION NUMBER: NCT02930473.


Asunto(s)
Trastornos de Ansiedad/enfermería , Pacientes Ambulatorios/psicología , Enfermería Psiquiátrica/métodos , Psicoterapia/métodos , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Portugal
15.
Scand J Caring Sci ; 32(4): 1279-1287, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-29578241

RESUMEN

BACKGROUND: Suffering has been considered by many authors to be a difficult concept to assess and measure, as it is subjective and unique. However, to guide the diagnosis and decision-making of healthcare professionals, it is important to develop an instrument that differentiates the different suffering dimensions, namely, intra- and interpersonal suffering, awareness of suffering and spiritual suffering. AIM: The aim of this study was thus to design and validate an instrument for the assessment of the dimensions of suffering in adult patients with chronic diseases or life-threatening illnesses. METHOD: A methodological study was developed. The data were collected from two self-help organisations and a palliative care unit. The theoretical model was tested using confirmatory factor analysis. The study sample consisted of 251 patients with chronic diseases or life-threatening illnesses. The Sense of Coherence Scale, the Spiritual Assessment Scale and the Suffering Assessment Questionnaire in Adults with Chronic Diseases or Life-Threatening Illness (SAQ) were applied to each participant and were later returned for analysis. RESULTS: An SAQ version with 12 items showed adequate psychometric characteristics of validity and internal consistency after being adapted to a four-dimensional structure that assesses the four dimensions of suffering. CONCLUSION: The results of confirmatory analysis indicated a good model fit that suggested that the advocated theoretical model is plausible.


Asunto(s)
Enfermedad Crónica/psicología , Psicometría/métodos , Estrés Psicológico/diagnóstico , Estrés Psicológico/psicología , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Encuestas y Cuestionarios , Adulto Joven
16.
Clin Endocrinol (Oxf) ; 86(2): 243-246, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-27474100

RESUMEN

OBJECTIVE: Polymorphisms in the thyroid transcription factor forkhead factor E1 (FOXE1) gene have been implicated in the genetic susceptibility to differentiated thyroid cancer, but little is known about their effect on tumour characteristics. The objective of this study was to determine the contribution of the FOXE1 polyalanine repeat region to the susceptibility to thyroid cancer and to its clinical characteristics. DESIGN, PATIENTS AND MEASUREMENTS: A total of 500 patients with sporadic thyroid cancer (440 papillary and 60 follicular thyroid carcinoma) and 502 healthy controls were included in this case-control association study. The number of FOXE1 alanine repeats in each subject was determined by PCR and multiplex fragment analysis by capillary electrophoresis. FOXE1 genotype and allele frequencies among groups were compared by logistic regression and adjusted for sex and age at diagnosis. Data were analysed according to cancer subtype, tumour size and the presence of lymph node or distant metastasis. RESULTS: FOXE1 alleles with 16 or more alanine repeats were more frequent in patients with tumour size > 1 cm compared to tumour size ≤ 1 cm (adjusted OR 1·44; 95% CI 1·05-1·88; P = 0·019). Genotypes containing at least one allele with 16 or more alanine repeats were associated with larger tumour size (adjusted OR 1·71; 95% CI 1·15-2·57; P = 0·009). No significant differences were observed between cancer subtypes or the presence/absence of metastasis. CONCLUSIONS: FOXE1 polyalanine repeat polymorphisms are associated with thyroid cancer, but only for tumours larger than 1 cm, suggesting a role in disease progression.


Asunto(s)
Factores de Transcripción Forkhead/genética , Péptidos , Secuencias Repetitivas de Ácidos Nucleicos , Neoplasias de la Tiroides/genética , Adulto , Alelos , Estudios de Casos y Controles , Progresión de la Enfermedad , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana Edad , Análisis de Secuencia de ADN , Neoplasias de la Tiroides/patología , Carga Tumoral/genética
17.
Health Promot Int ; 32(3): 577-580, 2017 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-26681769

RESUMEN

Based on Aaron Antonovsky's salutogenic model, the authors of this article aim to analyze the term Faith as a Generalized Resistance Resource (GRR) of people's health and to delve the relevance of this construct to clinical practice in Nursing. The authors consider that, in order for nurses to intervene in the promotion of faith so as to bring health benefits to people, a solid educational training in this subject area is required by nursing students.


Asunto(s)
Educación en Enfermería/normas , Promoción de la Salud , Espiritualidad , Humanos , Enfermeras y Enfermeros/psicología
18.
Brain ; 138(Pt 5): 1198-207, 2015 May.
Artículo en Inglés | MEDLINE | ID: mdl-25783594

RESUMEN

Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2 mutations, but is also seen in epileptic encephalopathies due to other gene mutations. We determined whether CHD2 variation underlies photosensitivity in common epilepsies, specific photosensitive epilepsies and individuals with photosensitivity without seizures. We studied 580 individuals with epilepsy and either photosensitive seizures or abnormal photoparoxysmal response on electroencephalography, or both, and 55 individuals with photoparoxysmal response but no seizures. We compared CHD2 sequence data to publicly available data from 34 427 individuals, not enriched for epilepsy. We investigated the role of unique variants seen only once in the entire data set. We sought CHD2 variants in 238 exomes from familial genetic generalized epilepsies, and in other public exome data sets. We identified 11 unique variants in the 580 individuals with photosensitive epilepsies and 128 unique variants in the 34 427 controls: unique CHD2 variation is over-represented in cases overall (P = 2.17 × 10(-5)). Among epilepsy syndromes, there was over-representation of unique CHD2 variants (3/36 cases) in the archetypal photosensitive epilepsy syndrome, eyelid myoclonia with absences (P = 3.50 × 10(-4)). CHD2 variation was not over-represented in photoparoxysmal response without seizures. Zebrafish larvae with chd2 knockdown were tested for photosensitivity. Chd2 knockdown markedly enhanced mild innate zebrafish larval photosensitivity. CHD2 mutation is the first identified cause of the archetypal generalized photosensitive epilepsy syndrome, eyelid myoclonia with absences. Unique CHD2 variants are also associated with photosensitivity in common epilepsies. CHD2 does not encode an ion channel, opening new avenues for research into human cortical excitability.


Asunto(s)
Proteínas de Unión al ADN/genética , Epilepsia Refleja/genética , Predisposición Genética a la Enfermedad , Mutación/genética , Animales , Electroencefalografía , Técnicas de Silenciamiento del Gen/métodos , Humanos , Estimulación Luminosa/métodos , Factores de Riesgo , Pez Cebra
19.
J Pers Assess ; 97(1): 22-30, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25175516

RESUMEN

The Experiences in Close Relationships-Relationship Structures questionnaire (ECR-RS) is one of the most recent measures of adult attachment. This instrument provides a contextual assessment of attachment-related anxiety and avoidance by measuring these dimensions in various close relationships (mother, father, partner, friend). To further explore its psychometric properties and cross-cultural adequacy, this study presents the validation of the ECR-RS in a sample of Portuguese community individuals (N = 236). The Portuguese version showed adequate reliability and construct validity. The original 2-factor structure was confirmed through confirmatory factor analysis. The ECR-RS is a psychometrically robust measure of attachment, representing an important advance in the measurement of adult attachment.


Asunto(s)
Relaciones Interpersonales , Apego a Objetos , Pruebas de Personalidad/normas , Adolescente , Adulto , Anciano , Ansiedad , Depresión , Análisis Factorial , Femenino , Humanos , Masculino , Persona de Mediana Edad , Portugal , Psicometría , Reproducibilidad de los Resultados , Factores Sexuales , Adulto Joven
20.
Rev Esc Enferm USP ; 49(2): 236-44, 2015 Apr.
Artículo en Portugués | MEDLINE | ID: mdl-25992822

RESUMEN

OBJETIVE: to create a reduced version of the QASCI, which is structurally equivalent to the long one and meets the criteria of reliability and validity. METHOD: Through secondary data from previous studies, the participants were divided into two samples, one for the development of reduced version and the second for study of the factorial validity. Participants responded to QASCI, the SF 36, the ADHS and demographic questions. RESULTS: A reduced version of 14 items showed adequate psychometric properties of validity and internal consistency, adapted to a heptadimensional structure that assesses positive and negative aspects of care. CONCLUSION: Confirmatory factor analysis revealed a good fit with the advocated theoretical model.


Asunto(s)
Cuidadores , Costo de Enfermedad , Encuestas y Cuestionarios , Cuidadores/psicología , Humanos , Psicometría
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