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1.
Artigo em Inglês | MEDLINE | ID: mdl-38769869

RESUMO

OBJECTIVES: To investigate the efficacy of video head impulse testing (VHIT) in detecting vestibular loss in pediatric patients with abnormal rotary chair testing, compared to a control group with normal rotary chair testing. STUDY DESIGN: Prospective, nonrandomized, controlled trial. SETTING: Pediatric vestibular program at tertiary level children's hospital. METHODS: Patients 3 to 18 years of age were recruited to undergo VHIT and rotary chair testing between September 2015 and November 2022. VHIT results were compared between an experimental group of 23 patients with vestibular symptoms and abnormal rotary chair testing results versus a control group of 14 patients without vestibular symptoms and with normal rotary chair testing results. RESULTS: The experimental group demonstrated reduced mean VHIT gain for the lateral semicircular canals (right = 0.83; left = 0.75) relative to the control group (right = 1.04, P = .005; left = 0.98, P < .001), but there was no significant difference between groups in superior and posterior canal responses. Among controls, there were no significant differences in mean gain values for each canal plane between age groups (3-7, 8-12, and 13-18 years) or between genders. A VHIT lateral canal gain value <0.85 and/or corrective saccades demonstrated 100% specificity and 100% positive predictive value for detecting vestibular loss on rotary chair, but only 69.6% sensitivity and 66.7% negative predictive value. CONCLUSION: VHIT is a useful test for detecting impairment of the lateral semicircular canals in children, though its sensitivity is limited relative to rotary chair. Its role in detecting vertical canal dysfunction in pediatric patients may be more limited and warrants further study.

2.
Genet Med ; 19(12): 1300-1308, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-28471432

RESUMO

PurposeWe analyzed the Exome Aggregation Consortium (ExAC) data set for the presence of individuals with pathogenic genotypes implicated in Mendelian pediatric disorders.MethodsClinVar likely/pathogenic variants supported by at least one peer-reviewed publication were assessed within the ExAC database to identify individuals expected to exhibit a childhood disorder based on concordance with disease inheritance modes: heterozygous (for dominant), homozygous (for recessive) or hemizygous (for X-linked recessive conditions). Variants from 924 genes reported to cause Mendelian childhood disorders were considered.ResultsWe identified ExAC individuals with candidate pathogenic genotypes for 190 previously published likely/pathogenic variants in 128 genes. After curation, we determined that 113 of the variants have sufficient support for pathogenicity and identified 1,717 ExAC individuals (~2.8% of the ExAC population) with corresponding possible/disease-associated genotypes implicated in rare Mendelian disorders, ranging from mild (e.g., due to SCN2A deficiency) to severe pediatric conditions (e.g., due to FGFR1 deficiency).ConclusionLarge-scale sequencing projects and data aggregation consortia provide unprecedented opportunities to determine the prevalence of pathogenic genotypes in unselected populations. This knowledge is crucial for understanding the penetrance of disease-associated variants, phenotypic variability, somatic mosaicism, as well as published literature curation for variant classification procedures and predicted clinical outcomes.


Assuntos
Bases de Dados Genéticas , Exoma , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/genética , Genótipo , Criança , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Avaliação de Resultados da Assistência ao Paciente , Penetrância , Fenótipo , Índice de Gravidade de Doença
3.
Women Health ; 56(4): 361-75, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26495864

RESUMO

This study aimed to investigate parental intention regarding the human papilloma virus (HPV) vaccination for adolescent daughters. Parents or guardians of adolescent girls, aged 12-14 years, from junior high schools in Taiwan participated and completed a HPV vaccination intention survey based on the Theory of Planned Behavior. The survey was conducted from October to November, 2009. Most, 78%, of the respondents reported a high intention to vaccinate daughters against HPV. A high intention of vaccination was associated with a family history of gynecological tumors (adjusted odds ratio [OR]: 2.22, 95% confidence interval [CI]: 1.10-4.51) and HPV awareness (adjusted OR: 2.33, 95% CI: 1.45-3.76). Higher parental intention was reported by respondents with a positive attitude toward the HPV vaccine (adjusted OR: 6.83, 95% CI: 4.16-11.22), perceived greater influence of subjective norms (adjusted OR: 121.23, 95% CI: 42.69-344.21), greater perceived behavioral control (adjusted OR: 67.69, 95% CI: 16.40-279.41), and perceived that the vaccine had limited influence on adolescent sexual behavior (adjusted OR: 2.24, 95% CI: 1.41-3.78). Health-care professionals must be knowledgeable about the HPV and actively promote vaccination among adolescent girls. Improvements in vaccination can be achieved through recommendations by physicians and nurses.


Assuntos
Intenção , Núcleo Familiar , Infecções por Papillomavirus/prevenção & controle , Vacinas contra Papillomavirus/administração & dosagem , Pais/psicologia , Aceitação pelo Paciente de Cuidados de Saúde/psicologia , Vacinação/psicologia , Adolescente , Adulto , Atitude Frente a Saúde , Estudos Transversais , Feminino , Humanos , Pessoa de Meia-Idade , Infecções por Papillomavirus/psicologia , Fatores Socioeconômicos , Inquéritos e Questionários , Taiwan , Vacinação/estatística & dados numéricos
4.
J Clin Nurs ; 19(19-20): 2704-12, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20846220

RESUMO

AIMS AND OBJECTIVES: The aims of this study were to (1) determine the differences in puberty and psychosocial adjustment among Taiwanese adolescent females with and without type 1 diabetes mellitus, and (2) examine the interaction between pubertal timing and diabetes in relation to its effect on adolescent's psychosocial adjustment. BACKGROUND: Rapid physical and sexual changes during puberty elicit a wide array of psychosocial adjustments. The effects of pubertal changes among adolescent females with type 1 diabetes mellitus on psychosocial adjustment are unknown. Design. This study used a comparative, case-controlled design. A total of 82 adolescent females, aged 10-17, were recruited for the study. Forty-one adolescents with type 1 diabetes mellitus were age-matched to 41 adolescents without type 1 diabetes mellitus. METHODS: Adolescents' psychosocial adjustment, including internalising and externalising behaviours, was assessed using the Child Behaviour Checklist (parental report) and the Youth Self-Report (individual self-report). The self-reported Pubertal Development Scale was used to measure adolescents' puberty, including onset of menses, age at menarche and pubertal timing. RESULTS: When compared to their counterparts, adolescent females with type 1 diabetes mellitus reported a delayed menarche and a delayed puberty. Females with type 1 diabetes mellitus had significantly greater internalising and externalising behaviours than their counterparts according to parental reports. Onset of menses and adolescent self-reported psychosocial adjustment were not different between the two groups. Interaction analyses showed that the association between pubertal timing and internalising behaviours was related to the presence of diabetes. According to parental reports, early pubertal timing had positive effects on internalising behaviours for adolescent females with type 1 diabetes mellitus not for adolescent females without type 1 diabetes mellitus. RELEVANCE TO CLINICAL PRACTICE: A multi-informant approach is suggested when health care professionals assess adolescent psychosocial adjustment. Health care professionals must provide female teenagers with information and opportunities to discuss the impact of type 1 diabetes mellitus on their puberty and psychosocial adjustment.


Assuntos
Adaptação Psicológica , Diabetes Mellitus Tipo 2/fisiopatologia , Puberdade , Adolescente , Estudos de Casos e Controles , Criança , Diabetes Mellitus Tipo 2/psicologia , Feminino , Humanos
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