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2.
J Youth Adolesc ; 52(12): 2545-2558, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37620682

RESUMEN

The literature shows that impulsivity, prevalent in adolescence, is negatively linked with a variety of psychosocial factors (e.g., positive interpersonal relationships, emotion regulation); however, there is limited research examining the relative contribution of multiple factors for this trait nor exploring how these factors influence the associations between impulsivity and risk-related outcomes. Drawing on multiple components of the unified theory of development (i.e., psychological variables, peers subsystem, community subsystem, family processes subsystem), this cross-sectional study aims to identify explanatory psychosocial variables (i.e., early memories of warmth and safeness, rational decision-making style, resilience, emotion regulation, coping, parental attachment, social group attachment, satisfaction with school and family-related variables) that are negatively related with impulsivity, in younger (13-15) and older (16-19 years) adolescents, and explore their moderating role in the associations between this trait and some risk-related outcomes (i.e., verbal aggression, anger, self-harm, other high-risk behaviors). A representative sample of 6894 adolescents (52.9% female) living in the Azores (Portugal), with ages ranging from 13 to 19 (M = 15.4), was used. Two stepwise multiple regressions, one for each age group, revealed that only emotion regulation, parental attachment, and social group attachment had a negative effect on impulsivity in both age groups; additionally, satisfaction with teachers also had this effect in younger adolescents. The first three variables weakened the positive associations between impulsivity and the risk-related outcomes. These results suggest that the psychological system and all subsystems of the social context measured play a relevant role in explaining adolescent impulsivity and that it may be reduced by promoting emotion regulation, positive parenting practices, healthier relationships with peers, and healthier relationships with teachers.


Asunto(s)
Padres , Grupo Paritario , Humanos , Adolescente , Femenino , Masculino , Estudios Transversales , Padres/psicología , Conducta Impulsiva/fisiología , Relaciones Familiares
3.
J Youth Adolesc ; 52(8): 1738-1752, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37178280

RESUMEN

Adolescence is a critical developmental period associated with an increased variety of interrelated risks and vulnerabilities. Previous studies have found associations between early memories of warmth and safeness, as well as emotion regulation, and self-harm and suicidal ideation in adolescence. Additionally, these early emotional memories have been found to be positively linked with some indicators of emotion regulation during this period. The present cross-sectional study extends prior research by exploring the moderating role of emotion regulation in the relationships between early memories of warmth and safeness, as well as each of the following risk-related outcomes in adolescence, in younger (i.e., 13-15) and older (i.e., 16-19) adolescents: suicidal ideation and self-harm and its associated functions (i.e., automatic and social reinforcement. Three self-report measures of these early emotional memories, emotion regulation, and risk-related outcomes, and a sample of 7918 Portuguese adolescents (53.3% females), with ages ranging from 13 to 19 (Mage = 15.5), were used. In both age groups, at high levels of emotion regulation, early memories of warmth and safeness had a greater (negative) effect on suicidal ideation and the automatic reinforcement function of self-harm, compared to at average and low levels of emotion regulation. These findings highlight the enhancing role of emotion regulation on the associations between early memories of warmth and safeness and some risk-related outcomes in adolescents, both younger and older, which reveals the relevance of targeting emotion regulation when preventing or tackling these outcomes, regardless of adolescents' levels of early memories of warmth and safeness.


Asunto(s)
Regulación Emocional , Conducta Autodestructiva , Femenino , Humanos , Adolescente , Masculino , Ideación Suicida , Estudios Transversales , Emociones/fisiología
4.
Proc Natl Acad Sci U S A ; 119(42): e2204701119, 2022 10 18.
Artículo en Inglés | MEDLINE | ID: mdl-36215502

RESUMEN

The synaptonemal complex (SC) is a proteinaceous scaffold that is assembled between paired homologous chromosomes during the onset of meiosis. Timely expression of SC coding genes is essential for SC assembly and successful meiosis. However, SC components have an intrinsic tendency to self-organize into abnormal repetitive structures, which are not assembled between the paired homologs and whose formation is potentially deleterious for meiosis and gametogenesis. This creates an interesting conundrum, where SC genes need to be robustly expressed during meiosis, but their expression must be carefully regulated to prevent the formation of anomalous SC structures. In this manuscript, we show that the Polycomb group protein Sfmbt, the Drosophila ortholog of human MBTD1 and L3MBTL2, is required to avoid excessive expression of SC genes during prophase I. Although SC assembly is normal after Sfmbt depletion, SC disassembly is abnormal with the formation of multiple synaptonemal complexes (polycomplexes) within the oocyte. Overexpression of the SC gene corona and depletion of other Polycomb group proteins are similarly associated with polycomplex formation during SC disassembly. These polycomplexes are highly dynamic and have a well-defined periodic structure. Further confirming the importance of Sfmbt, germ line depletion of this protein is associated with significant metaphase I defects and a reduction in female fertility. Since transcription of SC genes mostly occurs during early prophase I, our results suggest a role of Sfmbt and other Polycomb group proteins in downregulating the expression of these and other early prophase I genes during later stages of meiosis.


Asunto(s)
Meiosis , Complejo Sinaptonémico , Proteínas Cromosómicas no Histona/genética , Emparejamiento Cromosómico , Femenino , Humanos , Profase Meiótica I , Proteínas del Grupo Polycomb/genética , Complejo Sinaptonémico/genética
5.
Biology (Basel) ; 11(10)2022 Oct 14.
Artículo en Inglés | MEDLINE | ID: mdl-36290411

RESUMEN

Iodine deficiency, the most common cause of preventable mental impairment worldwide, has been linked to poorer intellectual function in several studies. However, to our knowledge, no studies have been performed in moderate iodine-deficient schoolchildren using the complete form of Wechsler Intelligence Scale for Children (WISC-III; Portuguese version). The main purpose of this study was to ascertain whether moderate iodine deficiency would affect the cognitive function of schoolchildren (7-11 years old; 3rd and 4th grades). Raven's Colored Progressive Matrices (CPM; Portuguese version) were used for measuring the intelligence quotient (IQ) of the total population (n = 256; median UIC = 66.2 µg/L), and the WISC-III was used to study two selected subgroups: one moderately iodine-deficient (n = 30) and the other with adequate iodine intake (n = 30). WISC-III was shown to be the prime instrument for cognitive function assessment among moderate iodine-deficient schoolchildren; this subgroup had a Full-Scale IQ 15.13 points lower than the adequate iodine intake subgroup, with a magnitude effect of d = 0.7 (p = 0.013). Significant differences were also registered in 6 of the 13 Verbal-Performance IQ subtests. Moderate iodine deficiency has a substantial impact on mental development and cognitive functioning of schoolchildren, with significant impairment in both Performance IQ and Verbal IQ spectrum, adversely impacting their educational performance.

6.
Aten. prim. (Barc., Ed. impr.) ; 54(6): 102315, Jun 2022. tab, graf
Artículo en Inglés | IBECS | ID: ibc-205028

RESUMEN

To study if the consultation's problems classification of a fictitious case by General and Family Medicine doctors, showed the characteristics of being a mechanistic or a systemic approach. Exploratory cross-sectional observational study in a convenience sample of the General Practice/Family Medicine population, internees included, in April 2020, applying a modified real world clinical case. Central Portugal and the Autonomous Region of Azores. General Practice/Family Medicine specialists and internees. Electronic Doctors invitation to participate, anonymously, in specific doctor's social networks. A self-fulfilling questionnaire was used to verify the classification of a clinical case in Subjective, Assessment and Plan (from the SOAP methodology) with the response options of the International Classification of Primary Health Care (ICPC2) in chapters P (Psychological) and Z (Social) possible for this case. “Technicists” doctors, only classifying “P” codes and “Systemics” classifying “P+Z” or only “Z” ICPC2 codes were defined. Differences between genders, work place, being an internee or specialist and being a tutor in specialized formation were studied. A sample of 227 30% (n=68) males, specialists represented 66% (n=149), of whom 49% (n=73) were internee's tutors and 34% (n=78) were internees, was studied. In the Subjective chapter of the SOAP methodology, 44.1% (n=100) were “technicists”, for Assessment n=93 (40.8%) were “technicists” and for P chapter classification 56.8% were “technicists”. For S, A and P chapters classification there was no significant difference between the considered variables. In this sample General Practice/Family Medicine Portuguese doctors were more “systemic” for the S and A chapters of the SOAP model, And “technicists” in the P chapter.(AU)


El enfoque de la medicina centrada en el paciente (MCP) es cada vez más importante debido a su asociación de efectos positivos sobre el médico y el paciente. El presente estudio tuvo como objetivo conocer si el abordaje de un caso clínico, a través de la clasificación de problemas de consulta de un caso ficticio por médicos de Medicina General y de Familia, presenta características de abordaje mecanicista o sistémico. Estudio observacional transversal en una muestra de conveniencia de la población de Medicina General/Medicina Familiar, incluidos los internos, en abril del 2020, aplicando un caso clínico del mundo real modificado de Portugal y los especialistas en Medicina General/Medicina Familiar de Azores y de Portugal central. Especialistas en Medicina General/Medicina Familiar e internados. Los médicos fueron invitados a participar, de forma anónima, mediante invitación electrónica, ya sea en la red oficial de pasantías o en la red social de un médico específico, la red MGFamiliar. Se utilizó un cuestionario autocumplimentable para verificar la clasificación de un caso clínico en subjetivo, evaluación y planificación (de la metodología SOAP) con las opciones de respuesta de la Clasificación Internacional de Atención Primaria de Salud (CIPC2) en los capítulos P (Psicológico) y Z (Social) posible para este caso. Se definieron médicos «técnicos» solo clasificando con códigos «P» y «sistémicos» clasificando «P+Z»’ o solo con códigos ICPC2 «Z». Se estudiaron las diferencias entre géneros, lugar de trabajo, ser interno o especialista, ser tutor en formación especializada. En una muestra de 227 sujetos, 30% (n=68) varones, los especialistas representaron el 66% (n=149), de los cuales el 49% (n=73) fueron tutores internos y el 34% (n=78), internos. Para la clasificación en el capítulo subjetivo de la metodología SOAP, el 44,1% (n=100) eran «técnicos», para la evaluación n=93 (40,8%) eran «técnicos» y para la clasificación del capítulo P el 56,8% eran «técnicos».(AU)


Asunto(s)
Humanos , Masculino , Femenino , Medicina General , Medicina Familiar y Comunitaria , Portugal , Relaciones Médico-Paciente , Salud Holística , Personal de Salud , Atención Primaria de Salud , Estudios Transversales , Encuestas y Cuestionarios
7.
Aten Primaria ; 54(6): 102315, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35525083

RESUMEN

To study if the consultation's problems classification of a fictitious case by General and Family Medicine doctors, showed the characteristics of being a mechanistic or a systemic approach. Exploratory cross-sectional observational study in a convenience sample of the General Practice/Family Medicine population, internees included, in April 2020, applying a modified real world clinical case. Central Portugal and the Autonomous Region of Azores. General Practice/Family Medicine specialists and internees. Electronic Doctors invitation to participate, anonymously, in specific doctor's social networks. A self-fulfilling questionnaire was used to verify the classification of a clinical case in Subjective, Assessment and Plan (from the SOAP methodology) with the response options of the International Classification of Primary Health Care (ICPC2) in chapters P (Psychological) and Z (Social) possible for this case. "Technicists" doctors, only classifying "P" codes and "Systemics" classifying "P+Z" or only "Z" ICPC2 codes were defined. Differences between genders, work place, being an internee or specialist and being a tutor in specialized formation were studied. A sample of 227 30% (n=68) males, specialists represented 66% (n=149), of whom 49% (n=73) were internee's tutors and 34% (n=78) were internees, was studied. In the Subjective chapter of the SOAP methodology, 44.1% (n=100) were "technicists", for Assessment n=93 (40.8%) were "technicists" and for P chapter classification 56.8% were "technicists". For S, A and P chapters classification there was no significant difference between the considered variables. In this sample General Practice/Family Medicine Portuguese doctors were more "systemic" for the S and A chapters of the SOAP model, And "technicists" in the P chapter.


Asunto(s)
Medicina Familiar y Comunitaria , Medicina General , Estudios Transversales , Femenino , Humanos , Masculino , Médicos de Familia , Portugal
8.
Biomedicines ; 10(2)2022 Jan 18.
Artículo en Inglés | MEDLINE | ID: mdl-35203410

RESUMEN

Predictive biomarkers are crucial in clarifying the best strategy to use poly(ADP-ribose) polymerase inhibitors (PARPi) for the greatest benefit to ovarian cancer patients. PARPi are specifically lethal to cancer cells that cannot repair DNA damage by homologous recombination (HR), and HR deficiency is frequently associated with BRCA1/2 mutations. Genetic tests for BRCA1/2 mutations are currently used in the clinic, but results can be inconclusive due to the high prevalence of rare DNA sequence variants of unknown significance. Most tests also fail to detect epigenetic modifications and mutations located deep within introns that may alter the mRNA. The aim of this study was to investigate whether quantitation of BRCA1/2 mRNAs in ovarian cancer can provide information beyond the DNA tests. Using the nCounter assay from NanoString Technologies, we analyzed RNA isolated from 38 ovarian cancer specimens and 11 normal fallopian tube samples. We found that BRCA1/2 expression was highly variable among tumors. We further observed that tumors with lower levels of BRCA1/2 mRNA showed downregulated expression of 12 additional HR genes. Analysis of 299 ovarian cancer samples from The Cancer Genome Atlas (TCGA) confirmed the coordinated expression of BRCA1/2 and HR genes. To facilitate the routine analysis of BRCA1/2 mRNA in the clinical setting, we developed a targeted droplet digital PCR approach that can be used with FFPE samples. In conclusion, this study underscores the potential clinical benefit of measuring mRNA levels in tumors when BRCA1/2 DNA tests are negative or inconclusive.

9.
Psychiatry Res ; 304: 114140, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-34340130

RESUMEN

Schizophrenia is a complex heritable brain disorder that entails significant social, neurocognitive, and functional deficits, and significant psychosocial challenges to affected and unaffected family members. In this cross-sectional study, we explore impairments in specific neurocognitive and social cognition processes in patients affected with schizophrenia, unaffected relatives, and in controls to provide a characterization of a genetically homogenous European sample from an endophenotypic and functional standpoint. A sample of 38 affected patients, 28 first-degree relatives, and 97 controls performed a series of computerized and skills-based assessments. Samples were compared across several neurocognitive, social, and functional domains. Significant impairments in episodic memory, executive function, social cognition, complex cognition, sensorimotor domains were found in patients and first-degree relatives. Findings also showed increased processing speed in memory and other complex cognitive processes relevant to autonomous living. A discriminant function analysis yielded 2 functions allowing 79% of correct group classifications based on social cognition and functional skills, neurocognition, and age. The study highlights the importance of resourcing to wide-ranging assessment methodologies, of developing research efforts to further understand the decline of social and neurocognitive processes, and the need for designing more targeted intervention strategies to be implemented both with affected patients and families.


Asunto(s)
Esquizofrenia , Cognición , Estudios Transversales , Endofenotipos , Humanos , Pruebas Neuropsicológicas , Esquizofrenia/genética
10.
Eur J Oncol Nurs ; 52: 101928, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33756420

RESUMEN

PURPOSE: The present study aims to explore whether the association between previous displacement to mainland Portugal to perform cancer therapy and current psychological adaptation is mediated by cancer survivors' unmet needs in terms of their emotional experience, financial concerns, access and continuity of care, and relations with others. METHOD: This cross-sectional study included a sample of 173 cancer survivors from the Azores archipelago (Portugal) recruited from a local oncological health unit. Participants completed a sociodemographic and clinical questionnaire and self-report measures assessing their unmet needs and psychological adaptation. Two parallel multiple mediation models were tested. RESULTS: Azorean cancer survivors live with unmet needs, especially emotional needs (M = 16.68, SD = 10.78). Displacement was indirectly associated with both anxious (indirect effect = 0.58, SE = 0.27, 95% Bias Corrected and accelerated Confidence Interval = [0.05, 1.15]) and depressive symptomatology (indirect effect = 0.36, SE = 0.17, 95% Bias Corrected and accelerated Confidence Interval = [0.03, 0.84]) through unmet emotional needs. CONCLUSION: Previous displacements seem to play an important role in the way cancer survivors adapt to survivorship by contributing to higher levels of unmet emotional needs. These findings can provide a scientific and clinical contribution to other isolated or island regions in the world where survivors face similar constraints.


Asunto(s)
Supervivientes de Cáncer/psicología , Evaluación de Necesidades , Neoplasias/psicología , Adulto , Anciano , Anciano de 80 o más Años , Azores , Estudios Transversales , Depresión/psicología , Ajuste Emocional , Emociones , Femenino , Necesidades y Demandas de Servicios de Salud , Humanos , Masculino , Persona de Mediana Edad , Portugal , Autoinforme , Encuestas y Cuestionarios , Adulto Joven
11.
Rev. Psicol., Divers. Saúde ; 10(1): 37-56, Março 2021. tab
Artículo en Portugués | LILACS | ID: biblio-1282032

RESUMEN

INTRODUÇÃO: As intervenções com recurso à tecnologia têm mostrado ser promissoras para ultrapassar algumas barreiras de acesso aos cuidados dos sobreviventes de cancro de regiões mais isoladas. Os estudos de aceitabilidade e das preferências dos sobreviventes relativamente a estas intervenções são escassos em Portugal e inexistentes nos Açores. OBJETIVOS: Este estudo pretendeu avaliar: i) os comportamentos de procura de ajuda dos sobreviventes de cancro dos Açores e as barreiras à procura de ajuda; e ii) o grau de aceitabilidade e as preferências destes sobreviventes relativamente ao desenvolvimento, implementação e participação numa intervenção psicológica via telefone. MÉTODO: Este estudo envolveu 173 sobreviventes de cancro dos Açores, recrutados num hospital público regional, numa unidade de saúde regional e numa instituição sem fins lucrativos. Recorreu-se a um questionário construído para o efeito, sendo os dados tratados com estatística descritiva. RESULTADOS: O apoio psicológico mostrou-se um comportamento de ajuda aceitável para os sobreviventes, sendo as barreiras à procura de ajuda de índole estrutural/prática e de conhecimento as mais endossadas pelos participantes. A maioria da amostra considerou útil uma intervenção psicológica via telefone, reportando ser provável participar. As sessões com uma duração situada entre os 30 a 45 minutos e com uma periodicidade quinzenal foram os aspetos preferenciais dos participantes. DISCUSSÃO E CONCLUSÃO: Espera-se que os resultados deste estudo possam orientar o desenvolvimento de uma intervenção via telefone que responda flexivelmente às necessidades dos sobreviventes dos Açores e facilite o suporte a prestar-lhes, integrando as suas preferências no desenho de uma intervenção desta natureza.


INTRODUCTION: Technology-based interventions are promising for overcoming some barriers that cancer survivors from isolated regions face in accessing health-care. No studies are exploring the acceptability and preferences concerning these interventions in Portugal and even in the Azores. OBJECTIVES: This study aims to evaluate: i) Azorean cancer survivors' help-seeking behaviors and barriers for seeking help; and ii) survivors' acceptability and preferences concerning development, implementation, and participation in the psychological telephone-based intervention. METHOD: This study included a sample of 173 cancer survivors from the Azores archipelago (Portugal) recruited from a local oncological hospital and health unit. Data were collected through a questionnaire built for this purpose and analyzed with a descriptive statistic. RESULTS: Psychological support was an accepted help-seeking behavior and the structural/practical and knowledge barriers for seeking help were the more endorsed by participants. The majority of the sample considered a psychological telephone-based intervention useful; reporting being likely participating. The length of the sessions ranging from 30 to 45 minutes and fortnightly were the participants' preferences. DISCUSSION AND CONCLUSION: Results may guide the development of a psychological telephone-based intervention for cancer survivors from the Azores, which can respond flexibly to their needs and facilitating the support to provide them, including their preferences when designing an intervention of that nature.


Asunto(s)
Intervención Psicosocial , Conducta , Sobrevivientes
12.
RNA ; 26(12): 1935-1956, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-32963109

RESUMEN

The NineTeen Complex (NTC), also known as pre-mRNA-processing factor 19 (Prp19) complex, regulates distinct spliceosome conformational changes necessary for splicing. During Drosophila midblastula transition, splicing is particularly sensitive to mutations in NTC-subunit Fandango, which suggests differential requirements of NTC during development. We show that NTC-subunit Salsa, the Drosophila ortholog of human RNA helicase Aquarius, is rate-limiting for splicing of a subset of small first introns during oogenesis, including the first intron of gurken Germline depletion of Salsa and splice site mutations within gurken first intron impair both adult female fertility and oocyte dorsal-ventral patterning, due to an abnormal expression of Gurken. Supporting causality, the fertility and dorsal-ventral patterning defects observed after Salsa depletion could be suppressed by the expression of a gurken construct without its first intron. Altogether, our results suggest that one of the key rate-limiting functions of Salsa during oogenesis is to ensure the correct expression and efficient splicing of the first intron of gurken mRNA. Retention of gurken first intron compromises the function of this gene most likely because it undermines the correct structure and function of the transcript 5'UTR.


Asunto(s)
Tipificación del Cuerpo/genética , Proteínas de Drosophila/metabolismo , Drosophila melanogaster/fisiología , Regulación del Desarrollo de la Expresión Génica , Intrones/genética , Empalme del ARN , Factor de Crecimiento Transformador alfa/metabolismo , Animales , Proteínas de Unión al ADN/genética , Proteínas de Unión al ADN/metabolismo , Proteínas de Drosophila/genética , Femenino , Infertilidad Femenina/etiología , Infertilidad Femenina/metabolismo , Infertilidad Femenina/patología , Empalmosomas/genética , Empalmosomas/metabolismo , Factor de Crecimiento Transformador alfa/genética
13.
Methods Mol Biol ; 2161: 37-50, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32681504

RESUMEN

Splice-switching oligonucleotides (SSOs) have been used to modulate gene expression by interfering with pre-mRNA splicing with the intent to treat disease. For Duchenne muscular dystrophy, splicing modulation has been used to induce the skipping of exon 51 of the dystrophin transcript, allowing the production of a truncated but functional protein. Although oligonucleotide-based therapies are promising, the rapid degradation of oligonucleotides (ONs) by intracellular nucleases has been a major obstacle. Locked nucleic acid (LNA) substitution in SSOs protects oligonucleotides from nuclease degradation and enhances the hybridization properties of the oligo. However, the best optimum size of the oligo depends on the LNA substitution rate. Here we show that 16-mer DNA SSOs with 60% LNA substitution and full phosphorothioate (PS) linkage backbone efficiently induce exon 51 skipping in myogenic cells derived from a DMD patient, allowing expression of the dystrophin protein.


Asunto(s)
Distrofina/genética , Fibras Musculares Esqueléticas/metabolismo , Distrofia Muscular de Duchenne/genética , Oligonucleótidos/química , Tratamiento con ARN de Interferencia/métodos , Línea Celular , Distrofina/metabolismo , Humanos , Distrofia Muscular de Duchenne/terapia , Oligonucleótidos/genética , Empalme del ARN
14.
Hum Psychopharmacol ; 35(4): e2735, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-32374462

RESUMEN

Assessment batteries of functional capacity provide robust indicators of real-world functioning in major psychiatric illnesses and important information on an individual's ability to live autonomously and pursue relevant psychosocial goals. OBJECTIVES: This study explores the psychometric properties of the Portuguese USCD Performance-based Skill Assessment 2 (UPSA-2-PT) in a mixed sample of Portuguese participants. METHOD: A sample of 110 participants, 37 patients diagnosed with schizophrenia, 27 first-degree relatives of patients and 46 controls were administered the UPSA-2-PT and self-report questionnaires. The UPSA-2-PT reliability was assessed through inter-rater reliability and internal consistency, convergent validity with community integration and a receiver operating curve analysis was conducted to establish scores' sensitivity and specificity. Youden's Index was used to determine an optimal UPSA-2-PT cutoff score. RESULTS: Findings show an excellent inter-rater reliability, good internal consistency and construct validity, consistent with previous studies in Western countries. The UPSA-2-PT also showed a good discriminant ability between patients and controls, and an overall percentage of correct classification of 86.7% based on the 81.59 cutoff. DISCUSSION: Findings are congruous with previous versions, strengthening the body of evidence supporting the construct validity and providing a useful tool for research and clinical purposes to practitioners.


Asunto(s)
Familia/psicología , Esquizofrenia/fisiopatología , Psicología del Esquizofrénico , Encuestas y Cuestionarios , Adulto , Anciano , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Persona de Mediana Edad , Variaciones Dependientes del Observador , Portugal , Psicometría , Reproducibilidad de los Resultados , Autoinforme , Sensibilidad y Especificidad , Adulto Joven
15.
Mol Psychiatry ; 25(10): 2455-2467, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-31591465

RESUMEN

Schizophrenia is a common, chronic and debilitating neuropsychiatric syndrome affecting tens of millions of individuals worldwide. While rare genetic variants play a role in the etiology of schizophrenia, most of the currently explained liability is within common variation, suggesting that variation predating the human diaspora out of Africa harbors a large fraction of the common variant attributable heritability. However, common variant association studies in schizophrenia have concentrated mainly on cohorts of European descent. We describe genome-wide association studies of 6152 cases and 3918 controls of admixed African ancestry, and of 1234 cases and 3090 controls of Latino ancestry, representing the largest such study in these populations to date. Combining results from the samples with African ancestry with summary statistics from the Psychiatric Genomics Consortium (PGC) study of schizophrenia yielded seven newly genome-wide significant loci, and we identified an additional eight loci by incorporating the results from samples with Latino ancestry. Leveraging population differences in patterns of linkage disequilibrium, we achieve improved fine-mapping resolution at 22 previously reported and 4 newly significant loci. Polygenic risk score profiling revealed improved prediction based on trans-ancestry meta-analysis results for admixed African (Nagelkerke's R2 = 0.032; liability R2 = 0.017; P < 10-52), Latino (Nagelkerke's R2 = 0.089; liability R2 = 0.021; P < 10-58), and European individuals (Nagelkerke's R2 = 0.089; liability R2 = 0.037; P < 10-113), further highlighting the advantages of incorporating data from diverse human populations.


Asunto(s)
Población Negra/genética , Predisposición Genética a la Enfermedad/genética , Estudio de Asociación del Genoma Completo , Hispánicos o Latinos/genética , Esquizofrenia/genética , Femenino , Sitios Genéticos , Humanos , Masculino , Polimorfismo de Nucleótido Simple/genética
16.
Clin Psychol Psychother ; 27(1): 52-60, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31713311

RESUMEN

It is widely known that stress reactivity and social functioning impairment are important difficulties in people with psychosis. However, the specific impact of stress reactivity on social functioning and its underlying mechanisms are still less explored. Social rank variables, such as shame and self-criticism, have been pointed out as relevant in the development, maintenance of several types of psychosocial suffering and, specifically, in psychotic disorders. This study's aim was to explore the associations between external shame, self-criticism, social stress reactivity, and social functioning difficulties and understand the mediator role of shame and self-criticism in the relationship between social stress reactivity and social functioning. Seventy-seven participants with a psychotic disorder filled in self-reported measures of stress reactivity, shame, and self-criticism and were clinically evaluated for social functioning. To study the associations between variables in the study, Spearman correlation coefficients were used. The PROCESS macro was used to test the sequential mediation analyses. All variables under study were associated with each other, and social stress reactivity predicted social functioning difficulties through external shame, whereas self-criticism was not a significant mediator. The present study highlights the role of external shame in the pathway from stress reactivity to social impairment. These results inform recovery-oriented interventions and reinforce the relevance of considering social competitive mentality when working with people with psychosis. Further research is needed to clarify the role of self-to-self relationship in social impairment and to identify other mechanisms aimed at dealing with shame used by people with psychosis.


Asunto(s)
Trastornos Psicóticos/psicología , Autoevaluación (Psicología) , Vergüenza , Conducta Social , Estrés Psicológico/psicología , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Portugal , Trastornos Psicóticos/complicaciones , Estrés Psicológico/complicaciones , Adulto Joven
17.
Psychiatry Res ; 272: 723-729, 2019 02.
Artículo en Inglés | MEDLINE | ID: mdl-30832192

RESUMEN

Given the recent treatment paradigm shift in psychosis, focusing on the recovery process, new assessment tools are needed. The Clinical Interview for Psychotic Disorders (CIPD) is an integrative and comprehensive assessment tool for psychotic disorders. CIPD encompasses the evaluation of diagnosis, psychosocial correlates and most relevant comorbidities. The study's aims were to examine CIPD inter-rater reliability, the relationships between CIPD and other instruments assessing positive and negative symptoms and functionality, and to explore participants' qualitative feedback. The sample included 30 individuals with psychotic disorders, aged between 18 and 62 years old. Two experts in clinical psychology conducted the interviews and independently rated other assessment tools (PANSS, GAF and PSP) to determine severity of psychotic symptoms and levels of functionality. Results indicated high inter-rater reliability for the majority of CIPD items and agreement regarding diagnosis was between 73% and 93%. Moreover, positive and moderate to strong correlations were found between CIPD, PANSS, GAF and PSP. From the qualitative analysis five themes emerged, namely: CIPD applicability and utility, comparison with previous interviews, interviewer aspects, negative and positive aspects. Overall, these preliminary results suggest that CIPD is a reliable and valid assessment instrument that seems to be well suited for people with psychosis.


Asunto(s)
Entrevista Psicológica/normas , Escalas de Valoración Psiquiátrica/normas , Trastornos Psicóticos/diagnóstico , Trastornos Psicóticos/psicología , Investigación Cualitativa , Adolescente , Adulto , Femenino , Humanos , Entrevista Psicológica/métodos , Masculino , Persona de Mediana Edad , Variaciones Dependientes del Observador , Reproducibilidad de los Resultados , Adulto Joven
18.
Psychiatry Res ; 273: 325-330, 2019 03.
Artículo en Inglés | MEDLINE | ID: mdl-30677722

RESUMEN

Antipsychotic medication non-adherence is a complex and multifaceted problem that may hinder recovery in psychosis-spectrum disorders. Therefore, it warrants an early and comprehensive assessment. Current self-report measures focus entirely on behavioral and attitudinal barriers to adherence, failing to provide insight about key psychosocial drivers such as shame and stigma that may also account for non-adherence. This study's main goals were to develop a brief scale for measuring antipsychotic (non)-adherence and associated intra and interpersonal barriers (Antipsychotic Medication Beliefs and Attitudes Scale - AMBAS), and explore its psychometric properties. One hundred and seventy participants with a psychosis-spectrum disorder were recruited and filled in a battery of self-report measures. Exploratory factor analysis supported a two-factor solution, with one factor tapping the influence of different barriers to medication adherence and other factor encompassing perceived positive effects of medication. The scale presented good reliability and convergent validity as evidenced by significant moderate associations with the Medication Adherence Rating Scale. Although in need for further study, AMBAS seems a valid and reliable measure to assess antipsychotic (non)-adherence and underlying behavioral and psychosocial drivers. With replication, AMBAS might be a useful measure that could be used in different clinical and research settings.


Asunto(s)
Antipsicóticos/uso terapéutico , Conocimientos, Actitudes y Práctica en Salud , Cumplimiento de la Medicación/psicología , Escalas de Valoración Psiquiátrica/normas , Autoinforme/normas , Adulto , Cultura , Análisis Factorial , Femenino , Humanos , Masculino , Persona de Mediana Edad , Psicometría , Reproducibilidad de los Resultados , Estigma Social
19.
Clin Psychol Psychother ; 25(5): 650-661, 2018 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-29744971

RESUMEN

BACKGROUND: Social experiences have a significant impact on cognitive functioning and appraisals of social interactions. Specifically, recalls of antipathy from parents, submissiveness, and bullying during childhood can have a significant influence on paranoid ideation later in life. METHOD: Multiple hierarchical regression analysis was performed on a sample of 91 patients diagnosed with paranoid schizophrenia in remission and active phase, their first-degree relatives (n = 32) and unaffected controls (n = 64). OBJECTIVES: Exploring the impact of distal (events from childhood) and proximal factors (current cognitive, emotional, and behavioural aspects of social functioning) in the frequency, degree of conviction, and distress resulting from paranoid ideation in the participants from 4 samples. RESULTS: Proximal and distal factors (shame, submissive behaviour, negative social comparison, antipathy from father) predicted several aspects of paranoid ideation. Those variables had a differential impact in affected patients and healthy controls. DISCUSSION: Finding suggests different variables being involved in paranoid ideation, and the specificities of patients with paranoid schizophrenia should be considered in the development of more effective psychotherapeutic interventions.


Asunto(s)
Acoso Escolar/psicología , Trastornos Paranoides/psicología , Relaciones Padres-Hijo , Vergüenza , Percepción Social , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Encuestas y Cuestionarios
20.
Community Ment Health J ; 54(5): 682, 2018 07.
Artículo en Inglés | MEDLINE | ID: mdl-29476283

RESUMEN

The original version of the article unfortunately contained a typo in the author name.

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