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1.
Ann Otol Rhinol Laryngol ; 133(2): 169-173, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37608693

RESUMO

OBJECTIVES: To identify the differences in the impact of chronic rhinosinusitis (CRS) between female and male adolescent patients at presentation. STUDY DESIGN: Cross sectional study. METHODS: Adolescent patients, age 12 to 18 years old, presenting to our Otolaryngology clinic between August 2020 and April 2023 for CRS were asked to fill both the SNOT-22 and the SN5 forms. Female and male cohorts were compared regarding their demographics, comorbidities, subjective and objective disease measurements, and choice of treatment. RESULTS: Sixty-six patients were included, 30 female and 36 male patients. There were no differences in age, allergic rhinitis, asthma, obstructive sleep apnea, presence of nasal septal deviation, and objective disease severity (P > .05 for all). At presentation, mean overall SNOT-22, ear/facial, sleep, and psychological domains were all higher in female patients (43vs 30.9, P = .02; 9.1vs 6, P = .03; 11.8vs 8.3, P = .07; 14.1vs 8.8, P = .02 respectively). SN5 scores and overall QoL visual analog scale were similar in females and males. CONCLUSION: Female patients with CRS show higher subjective disease burden. Incorporating data on gender-specific differences may be important to personalize treatment decision making.


Assuntos
Rinite , Sinusite , Humanos , Masculino , Feminino , Adolescente , Criança , Qualidade de Vida , Fatores Sexuais , Estudos Transversais , Doença Crônica
2.
J Endocrinol Invest ; 44(10): 2131-2138, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33751486

RESUMO

PURPOSE: Protein tyrosine phosphatase non-receptor type 22 (PTPN22) is an inhibitor of T-cell activation, regulating intracellular signal transduction and thereby being implicated in the pathogenesis of autoimmune thyroid disease (AITD). The exact molecular mechanisms have not been fully elucidated. The aim of the present study was to quantitate DNA methylation within the PTPN22 gene promoter in children and adolescents with AITD and healthy controls. METHODS: 60 Patients with Hashimoto thyroiditis (HT), 25 patients with HT and type 1 diabetes (HT + T1D), 9 patients with Graves' disease (GD) and 55 healthy controls without any individual or family history of autoimmune disease were enrolled. Whole blood DNA extraction, DNA modification using sodium bisulfate and quantification of DNA methylation in the PTPN22 gene promoter, based on melting curve analysis of the selected DNA fragment using a Real-Time PCR assay, were implemented. RESULTS: DNA methylation in the PTPN22 gene promoter was found to be significantly higher in HT patients (39.9 ± 3.1%) in comparison with other study groups (20.3 ± 2.4% for HT + T1D, 32.6 ± 7.8% for GD, 27.1 ± 2.4% for controls, p < 0.001). PTPN22 gene promoter DNA methylation was also associated marginally with thyroid autoimmunity in general (p = 0.059), as well as considerably with thyroid volume (p = 0.004) and the presence of goiter (p = 0.001) but not thyroid function tests. CONCLUSIONS: This study demonstrates for the first time that a relationship between autoimmune thyroiditis and PTPN22 gene promoter DNA methylation state is present, thus proposing another possible etiological association between thyroiditis and abnormalities of PTPN22 function. Further expression studies are required to confirm these findings.


Assuntos
Biomarcadores/análise , Metilação de DNA , Predisposição Genética para Doença , Doença de Hashimoto/diagnóstico , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas , Proteína Tirosina Fosfatase não Receptora Tipo 22/genética , Adolescente , Estudos de Casos e Controles , Criança , Feminino , Seguimentos , Grécia/epidemiologia , Doença de Hashimoto/epidemiologia , Doença de Hashimoto/genética , Humanos , Masculino , Prognóstico
3.
Early Interv Psychiatry ; 12(4): 686-693, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-27629273

RESUMO

AIM: Schizophrenia and 22q11.2 deletion syndrome (22q11DS) share similar patterns of cognitive deficits. Up to 30% of those with 22q11DS develop schizophrenia during early adulthood. As cognitive decline has recently been found to predict onset of psychosis in adolescents with 22q11DS, early interventions such as cognitive remediation (CR) during adolescence are warranted. This paper investigates the durability of a remote, computerized, CR programme for youth with 22q11DS. Our aim was to determine if the positive effects of CR persisted 6 months beyond intervention completion. METHODS: A longitudinal design with 21 participants serving as their own controls was used. Youth were seen for neurocognitive assessments at pre-treatment, after the targeted 8-month intervention, at post-treatment, and 6 months after for follow-up. During the intervention, cognitive coaches met remotely with participants for CR via video conferencing three times a week, and offered task-specific strategies. To determine if intervention improvements held across the 6-month follow-up period, neurocognitive measures were statistically examined with repeated measures analysis of variances from pre-treatment through follow-up. RESULTS: Our CR intervention proved durable. Post-treatment improvements comprising cognitive flexibility, executive function, reaction time and working memory were maintained over the follow-up period. CONCLUSIONS: Results confirm previous research regarding the durability of CR treatment and extend these findings to youth with 22q11DS. The present study may serve to inform early intervention efforts focused on cognitive and functionally relevant rehabilitation goals for youth with 22q11DS and suggests that 22q11DS can potentially serve as a suitable model for examining the trajectory preceding psychosis.


Assuntos
Cognição , Remediação Cognitiva/métodos , Síndrome de DiGeorge/psicologia , Síndrome de DiGeorge/terapia , Terapia Assistida por Computador/métodos , Adolescente , Feminino , Humanos , Masculino , Comunicação por Videoconferência
4.
J Appl Res Intellect Disabil ; 30(2): 416-418, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26914835

RESUMO

BACKGROUND: Research on Internet safety for adolescents has identified several important issues including unwanted exposure to sexual material and sexual solicitation. METHODS: Although individuals with intellectual disabilities often have poor insight and judgment, and may therefore be at risk for Internet dangers, there is surprisingly little published on this topic. RESULTS: To illustrate Internet dangers that adolescents and adults with intellectual disabilities may face, we report composite case vignettes, based on actual clinical cases of adolescents and adults with 22q11.2 deletion syndrome. CONCLUSION: We encourage clinicians to discuss Internet safety in their practice and provide recommendations for future research subjects.

5.
Am J Intellect Dev Disabil ; 121(2): 151-64, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26914469

RESUMO

The 22q11.2 deletion syndrome (22q11.2DS) is associated with cognitive and functional impairments and increased risk for schizophrenia. We characterized multitasking abilities of adolescents with 22q11.2DS using an experimental naturalistic setting and examined whether multitasking impairments were associated with real-world functioning and negative symptoms. Thirty-nine adolescents (19 with 22q11.2DS and 20 controls) underwent the Multitasking Evaluation for Adolescents. Real-world functioning and clinical symptoms were assessed in participants with 22q11.2DS. Adolescents with 22q11.2DS performed poorly in the multitasking evaluation. Our data also suggest that multitasking abilities are related to adaptive functioning in the practical domain and negative symptoms. This study shows that adolescents with 22q11.2DS are characterized by multitasking impairments, which may be relevant for several aspects of the clinical phenotype.


Assuntos
Atenção , Síndrome de DiGeorge/psicologia , Função Executiva , Análise e Desempenho de Tarefas , Adolescente , Estudos de Casos e Controles , Criança , Feminino , Humanos , Masculino , Testes Neuropsicológicos , Adulto Jovem
6.
Psychol Med ; 46(5): 1005-13, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26670707

RESUMO

BACKGROUND: Very little is known about the phenotypic expression of schizotypal traits in individuals with 22q11.2 deletion syndrome (22q11DS). The main purpose was to analyse the factorial structure, internal consistency and temporal stability of schizotypal traits, as well as their associations with prodromal states and clinical psychotic symptoms in adolescents with 22q11DS. METHOD: The sample comprised 61 adolescents with 22q11DS (mean = 14.95 years, s.d. = 2.13; n = 24 at follow-up). An age-matched comparison group (n = 61, mean = 15.44 years, s.d. = 1.76) was also included. The Schizotypal Personality Questionnaire (SPQ), the Structured Interview for Prodromal Syndromes, the Positive and Negative Syndrome Scale, and the Brief Psychiatric Rating Scale were used. RESULTS: Adolescents with 22q11DS scored higher than the control group on the interpersonal dimension and suspiciousness subscale of the SPQ. The analysis of the internal structure of the SPQ in the sample of 22q11DS participants yielded a three-component solution (cognitive-perceptual, interpersonal, and disorganized). In addition, internal consistency coefficients ranged between 0.63 and 0.91. The schizotypal traits were highly stable across a 3.6-year interval, and ranged from 0.50 to 0.63. Self-reported schizotypal traits correlated with interview-based ratings of prodromal states and psychotic symptoms. CONCLUSIONS: These results indicate that the SPQ may be a valid tool to assess schizotypal traits in adolescents with 22q11DS. The identification of a reliable self-report instrument for use in individuals with learning disabilities and at genetic high risk for psychosis could be useful in clinical and research settings. Assessment of schizotypal traits may be used as a distal risk marker and in a close-in strategy in high-risk genetic samples to enhance the possibility of early detection of psychosis.


Assuntos
Síndrome de DiGeorge/psicologia , Sintomas Prodrômicos , Psicometria/métodos , Transtorno da Personalidade Esquizotípica/diagnóstico , Adolescente , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Fenótipo , Escalas de Graduação Psiquiátrica , Reprodutibilidade dos Testes , Fatores de Risco , Autorrelato
7.
J Can Acad Child Adolesc Psychiatry ; 20(4): 305-10, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22114612

RESUMO

INTRODUCTION: Psychotic symptoms are highly prevalent in adolescents with 22q11.2 Deletion Syndrome (22qDS), with as many as half reporting transient psychotic symptoms. Anxiety is also commonly seen in this population, and patients frequently report both psychotic symptoms and anxiety. OBJECTIVE: To describe the psychiatric presentation, course and management of primary anxiety disorders in patients with 22qDS who also presented with isolated perceptual disturbances. METHOD: This report describes a 24-month clinical follow-up of three patients with 22qDS who were seen in the Medical Psychiatry clinic at the Hospital for Sick Children (Toronto, Canada). RESULTS: Patients presented with primary anxiety disorders and perceptual disturbances. Patients were placed on selective serotonin reuptake inhibitor only, with improvement of both anxiety and perceptual disturbances being noted. CONCLUSIONS: Some patients with 22qDS who present with psychotic symptoms do not develop a psychotic disorder; therefore, the use of antipsychotics for every child or adolescent with 22qDS who experience psychotic symptoms is debatable. Long-term follow-up, phenomenological and treatment efficacy studies in larger samples are needed to determine optimal treatment of psychotic symptoms in children and adolescents with 22qDS.

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