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1.
Am J Med Genet A ; 173(9): 2461-2466, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28627787

RESUMO

Danon disease (DD) is a rare X-linked disorder caused by loss-of-function mutations in the LAMP2 gene, which encodes lysosome-associated membrane protein. It is characterized by the triad of hypertrophic cardiomyopathy, myopathy, and intellectual disability. Whereas the molecular and pathophysiological mechanisms underlying this disorder have been previously reported and continue to be explored, the cognitive deficits and psychiatric comorbidities manifested in DD remain an understudied topic. We systematically assessed cognitive abilities and psychiatric comorbidities in 13 males and females. Most of the participants in our cohort (n = 9; 75%) had an IQ score within the normal range, while only one participant had intellectual disability. Participants' performance on the Cognitive Neuropsychiatric Battery (CNB) showed only mildly impaired cognitive abilities in most modules, except in the executive functioning test, which was low compared to healthy controls. Of note, 69% of the participants met criteria for at least one psychiatric disorder, mainly mood and anxiety disorders, occurring alone or in combination in the same patient. The results of the present study challenge earlier reports suggesting that mental retardation is a core constituent in DD. Of importance, it underscores the need to refer Danon patients to psychiatric assessment.


Assuntos
Cognição , Doença de Depósito de Glicogênio Tipo IIb/genética , Deficiência Intelectual/genética , Proteína 2 de Membrana Associada ao Lisossomo/genética , Adolescente , Adulto , Feminino , Doenças Genéticas Ligadas ao Cromossomo X , Doença de Depósito de Glicogênio Tipo IIb/fisiopatologia , Doença de Depósito de Glicogênio Tipo IIb/psicologia , Humanos , Deficiência Intelectual/fisiopatologia , Deficiência Intelectual/psicologia , Masculino , Pessoa de Meia-Idade , Mutação , Adulto Jovem
2.
Curr Psychiatry Rep ; 18(10): 93, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27595859

RESUMO

Between 10 and 20 million people attempt suicide every year worldwide, and suicide attempts represent a major economic burden. Suicide attempters suffer from high rates of comorbidity, and comorbidity is the rule in suicide re-attempters. Comorbidity complicates treatment and prognosis and causes a more protracted course. In the present narrative review, we included these patterns of comorbidity: intra-Axis I disorders, intra-Axis II disorders, Axis I with Axis II disorders, and psychiatric with physical illnesses. We also briefly reviewed the patterns of comorbidity in suicide re-attempters. We concluded that comorbidity at different levels appears to be the rule in suicide attempters, particularly in those who re-attempt. However, several issues deserve further research regarding the patterns of comorbidity in suicide attempters.


Assuntos
Transtornos Mentais/complicações , Transtornos Mentais/psicologia , Tentativa de Suicídio/psicologia , Tentativa de Suicídio/estatística & dados numéricos , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
3.
J Clin Med ; 11(21)2022 Oct 27.
Artigo em Inglês | MEDLINE | ID: mdl-36362572

RESUMO

(1) Background: Chronic Pelvic Pain (CPP) is a prevalent medical condition with a complex treatment due to different variables that influence its clinical course. (2) Methods: Psychological variables such as depression, anxiety, catastrophizing or neuroticism have been described as influencing CPP. This is a cross-sectional study of 63 patients with CPP sent for a psychological evaluation due to participation in group therapy for CPP. The main purpose of this study was to characterize the baseline psychological characteristics of women with CPP. The NEO Five Factor Inventory (NEO-FFI), State and Trait Anxiety Inventory (STAI), Beck Depression Inventory-Fast Screen (BDI-FS), Pain Catastrophizing Scale (PCS) and Chronic Pain Acceptance Questionnaire (CPAQ) were performed. (3) Results: The personality profile of patients (NEO FFI) shows high neuroticism, low extraversion and low conscientiousness. The 25.4% of patients had moderate or severe depression according to BDI-FS results, almost half of the patients had high levels of anxiety trait (>P75, 49.2%) and more than half the patients had high levels of anxiety state (>P75, 59.5%). Punctuations of PCS and CPAQ are similar to patients with fibromyalgia. (4) Conclusions: CPP is associated with high levels of depression, anxiety, neuroticism, catastrophizing and low pain acceptance. It is important to develop interventions that can modify these psychological factors in order to improve the clinical course of CPP.

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