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1.
Cancers (Basel) ; 15(22)2023 Nov 09.
Artigo em Inglês | MEDLINE | ID: mdl-38001596

RESUMO

Retinoblastoma (RB) is the most common ocular neoplasm in children, whose development depends on two mutational events that occur in both alleles of the retinoblastoma susceptibility gene (RB1). Regarding the nature of these mutational events, RB can be classified as hereditary if the first event is a germline mutation and the second one is a somatic mutation in retina cells or nonhereditary if both mutational events occur in somatic cells. Although the rate of survival of RB is significantly elevated, the incidence of second malignant neoplasms (SMNs) is a concern, since SMNs are the main cause of death in these patients. Effectively, RB patients present a higher risk of SMN incidence compared to other oncology patients. Furthermore, evidence confirms that hereditary RB survivors are at a higher risk for SMNs than nonhereditary RB survivors. Over the decades, some studies have been performed to better understand this subject, evaluating the risk of the development of SMNs in RB patients. Furthermore, this risk seems to increase with the use of ionizing radiation in some therapeutic approaches commonly used in the treatment of RB. This review aims to clarify the effect of ionizing radiation in RB patients and to understand the association between the risk of SMN incidence in patients that underwent radiation therapy, especially in hereditary RB individuals.

2.
Int J Mol Sci ; 24(20)2023 Oct 18.
Artigo em Inglês | MEDLINE | ID: mdl-37895013

RESUMO

The non-homologous end joining pathway is vital for repairing DNA double-strand breaks (DSB), with DNA-dependent protein kinase (DNA-PK) playing a critical role. Altered DNA damage response (DDR) in chronic (CML) and acute myeloid leukemia (AML) offers potential therapeutic opportunities. We studied the therapeutic potential of AZD-7648 (DNA-PK inhibitor) in CML and AML cell lines. This study used two CML (K-562 and LAMA-84) and five AML (HEL, HL-60, KG-1, NB-4, and THP-1) cell lines. DDR gene mutations were obtained from the COSMIC database. The copy number and methylation profile were evaluated using MS-MLPA and DDR genes, and telomere length using qPCR. p53 protein expression was assessed using Western Blot, chromosomal damage through cytokinesis-block micronucleus assay, and γH2AX levels and DSB repair kinetics using flow cytometry. Cell density and viability were analyzed using trypan blue assay after treatment with AZD-7648 in concentrations ranging from 10 to 200 µM. Cell death, cell cycle distribution, and cell proliferation rate were assessed using flow cytometry. The cells displayed different DNA baseline damage, DDR gene expressions, mutations, genetic/epigenetic changes, and p53 expression. Only HEL cells displayed inefficient DSB repair. The LAMA-84, HEL, and KG-1 cells were the most sensitive to AZD-7648, whereas HL-60 and K-562 showed a lower effect on density and viability. Besides the reduction in cell proliferation, AZD-7648 induced apoptosis, cell cycle arrest, and DNA damage. In conclusion, these results suggest that AZD-7648 holds promise as a potential therapy for myeloid leukemias, however, with variations in drug sensitivity among tested cell lines, thus supporting further investigation to identify the specific factors influencing sensitivity to this DNA-PK inhibitor.


Assuntos
Leucemia Mieloide Aguda , Proteína Supressora de Tumor p53 , Humanos , Apoptose , Ciclo Celular , Pontos de Checagem do Ciclo Celular , DNA/metabolismo , Dano ao DNA , Proteína Quinase Ativada por DNA/antagonistas & inibidores , Proteína Quinase Ativada por DNA/metabolismo , Leucemia Mieloide Aguda/tratamento farmacológico , Leucemia Mieloide Aguda/genética , Proteína Supressora de Tumor p53/genética , Proteína Supressora de Tumor p53/metabolismo
3.
Gen Psychiatr ; 36(4): e100939, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37622032

RESUMO

Depression and dementia can lead to generalised cognitive and memory dysfunction. Thus, differentiating these disorders is important and challenging. Pseudodementia is a term used clinically to describe symptoms that resemble dementia but are caused by other conditions (most frequently depression), rather than being recognised as an official diagnosis. Pseudodementia is characterised by a cognitive impairment that mimics dementia but which does not have its origin in neurological degeneration, deriving instead from functional psychiatric conditions. This condition is more commonly observed in older adults (particularly those over the age of 50 or 60 years), and its risk factors overlap with those for depression. Pseudodementia is essentially characterised by deficits in memory, executive function and speech and, therefore, can easily be confused with dementia, although there are aspects that allow its differentiation. Diagnosing pseudodementia can be difficult, especially as there is significant overlap between its symptoms and those of other conditions. However, it is important to recognise characteristic aspects of this disorder, as its correct identification is essential for proper treatment.

4.
Curr Psychol ; : 1-12, 2023 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-37359612

RESUMO

Social Anxiety Disorder (SAD) has its usual onset during adolescence when it is a highly prevalent and debilitating condition. Evidence regarding the processes that underline social anxiety and SAD is not compelling, especially in adolescents. Within an Acceptance and Commitment Therapy (ACT) framework, the causal role of ACT processes on adolescents' social anxiety and how these processes contribute to sustain social anxiety over time is still unknown. Hence, this study explored the role of psychological inflexibility (PI) and acceptance and committed action (as psychological flexibility processes) on social anxiety over time, in a clinical sample of adolescents. Twenty-one adolescents (Mage = 16.19, SD = 0.750) with a primary diagnosis of SAD completed a set of self-report measures assessing PI, acceptance (i.e., willingness to experience social anxiety symptoms), action (i.e., moving towards valued life directions despite social anxiety symptoms) and social anxiety. Path analysis was used to investigate a mediation model linking acceptance, committed action, and PI to social anxiety, directly and indirectly. Findings revealed that acceptance and action were negatively and directly associated with PI after 10-weeks. In turn, PI yielded a positive and direct effect on social anxiety after another 12-weeks. PI totally mediated the relation between acceptance and action and social anxiety, with significant indirect effects. Overall, findings offer evidence for the applicability of the ACT model to adolescent SAD and support the use of clinical interventions targeting PI to understand and alleviate adolescents' social anxiety.

5.
Artigo em Inglês | MEDLINE | ID: mdl-36231757

RESUMO

Social fears arise when fearing to be judged in social events. When these fears are intense, persistent, and debilitating, the individual may suffer from social anxiety disorder (SAD), which has its most frequent onset during adolescence and tends to be chronic. Still, evidence on the prevalence of social fears and SAD in adolescence is scarce. This study analyzed the prevalence of social fears and of SAD in Portuguese adolescents. Of the initial sample (n = 1495), 26% presented with intense self-reported social fears. Of those, 53.9% accepted to be further assessed for diagnosis, resulting in a point-estimate prevalence of adolescent SAD of 9.4%; this is slightly higher than previously found. Social performance was the most feared social event. Of the adolescents with SAD, 12.9% were receiving psychological intervention, 12.1% refused intervention, and 92 (65.7%) accepted intervention. Findings confirm SAD as a highly prevalent mental disorder among adolescents, particularly girls, and additionally, that most of these adolescents did not seek treatment but are willing to receive help if made available. Hence, schools should be invested not only in identifying vulnerable adolescents but also in providing diverse intervention options, tailored to their needs, and directing them to successful developmental trajectories.


Assuntos
Fobia Social , Adolescente , Ansiedade , Medo/psicologia , Feminino , Humanos , Fobia Social/diagnóstico , Fobia Social/epidemiologia , Fobia Social/psicologia , Prevalência , Instituições Acadêmicas
6.
Procedia Comput Sci ; 203: 727-732, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35974969

RESUMO

COVID-19 has infected several million of individuals while claiming numerous lives. This fact raised the need to apply the measure to prevent its transmission. The use of disinfection products, wearing masks, and avoiding touching doors are important measures to avoid its spread. Thus, this work proposes a framework supported by a Convolutional Neural Network (CNN) model checking the hygienic conditions of the individuals requiring authorization to access facilities. The experimental work takes IoT devices with sensors to check: whether the users have disinfection product in their hands and a trained model to check whether individuals are also wearing masks. The achieved results highlighted the effectiveness of the proposed framework.

7.
Front Psychol ; 13: 915677, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36755977

RESUMO

Cognitive therapy has been established as the frontline treatment for adults with social anxiety disorder (SAD); its efficacy with socially anxious adolescents is incipient but promising. This work investigated change in social anxiety symptoms reported by adolescents and their therapist as they go through remotely delivered 10-session cognitive therapy (i.e., CT@TeenSAD). Participants were 21 adolescents (81% females; M age = 16.10) diagnosed with SAD. They reported on change on their social anxiety symptoms at the beginning of each session; their therapist reported on how their symptoms had improved at the end of each session. Results, though preliminary, show that sessions had a significant impact on self- and therapist reported change, with consistent and continuous improvement across intervention sessions. Gender did not impact on that change, but therapist did: though the same pattern of change emerged for both therapists, it was more evident for the therapist with the greatest previous clinical experience. Overall, current findings align with the cognitive therapy framework of progressive gains throughout therapy. They also add evidence on the applicability and usefulness of an online cognitive approach to adolescents diagnosed with SAD.

8.
Inf. psiquiátr ; (234): 39-46, oct.-dic. 2018. tab
Artigo em Espanhol | IBECS | ID: ibc-182416

RESUMO

El presente trabajo presenta un estudio sistemático con el objetivo de caracterizar y analizar el perfil de la población asistida por el equipo de salud mental comunitario del Departamento de Salud Mental de Guarda, en términos de características sociodemográficas y clínicas, con vistas a mejorar la práctica asistencial en el futuro. Así, se realizó un estudio descriptivo retrospectivo de todos los procesos clínicos de pacientes con trastorno mental incluidos en el servicio comunitario. Se analizaron datos sociodemográficos (edad, sexo y estado civil), características clínicas, diagnóstico, tratamiento y año de hospitalización. Un total de 287 casos fueron identificados e investigados. El perfil común del paciente inscrito en el Servicio de Salud Mental de la Comunidad fue el sexo masculino (72,5%), con una edad promedio de 52 años, en su mayoría solteros (74,5%) y con diagnóstico de esquizofrenia y psicosis relacionadas (54,7%). La totalidad de los pacientes fue tratada con antipsicóticos de acción prolongada y el fármaco más utilizado fue el decanoato de haloperidol (46%). Un detalle particular fue que el 25% de los pacientes nunca fueron ingresados en el servicio psiquiátrico. Este estudio permitió determinar el perfil de los pacientes asistidos, pero también muestra que todos los pacientes inscritos en el Servicio de Salud Mental se benefician de la consulta periódica del servicio comunitario, que proporciona apoyo clínico, social y familiar en el propio domicilio, y promueve la adherencia terapéutica con uso de antipsicóticos de acción prolongada


The present work presents a systematic study aiming to characterize and analyze the profile of the population that is assisted by the community mental health team of Guarda Metal Health Department, in terms of sociodemographic and clinic features, in order to improve the assistance practice in the future. For that matter, a retrospective study of all patient clinical records with mental disorder included in the home care program was conducted. Sociodemographic data (age, sex and marital status), clinical features, diagnosis, treatment and year of hospitalization were analyzed. A total of 287 cases were identified and investigated. The common profile of patient enrolled into the Community Mental Health Service was male (72,5 %), mean age of 52 years, generally single (74,5%), and diagnosed with schizophrenia and related psychoses (54,7%). The totality of the patients was treated with antipsychotic longacting injections, therefore, the most frequent treatment was haloperidol decanoate (46%). One particular detail was that 25% of the patients were never admitted to the psychiatric service. This study allowed to determine the profile of patients assisted but also show that all the patient enrolled into the Community Mental Health Service benefits from the periodic consultation of the home care program, which provides clinical, social and family support, as well as promote therapeutic adherence with long-acting antipsychotic injections


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Terapias Complementares/psicologia , Serviços de Saúde Comunitária , Saúde Mental , Antipsicóticos/administração & dosagem , Transtornos Mentais/tratamento farmacológico , Estudos Retrospectivos , Haloperidol/administração & dosagem , Cooperação e Adesão ao Tratamento/psicologia , Transtornos Mentais/psicologia
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