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Orphanet J Rare Dis ; 13(1): 86, 2018 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-30012219


BACKGROUND: ATP8A2 mutations have recently been described in several patients with severe, early-onset hypotonia and cognitive impairment. The aim of our study was to characterize the clinical phenotype of patients with ATP8A2 mutations. METHODS: An observational study was conducted at multiple diagnostic centres. Clinical data is presented from 9 unreported and 2 previously reported patients with ATP8A2 mutations. We compare their features with 3 additional patients that have been previously reported in the medical literature. RESULTS: Eleven patients with biallelic ATP8A2 mutations were identified, with a mean age of 9.4 years (range 2.5-28 years). All patients with ATP8A2 mutations (100%) demonstrated developmental delay, severe hypotonia and movement disorders, specifically chorea or choreoathetosis (100%), dystonia (27%) and facial dyskinesia (18%). Optic atrophy was observed in 78% of patients for whom funduscopic examination was performed. Symptom onset in all (100%) was noted before 6 months of age, with 70% having symptoms noted at birth. Feeding difficulties were common (91%) although most patients were able to tolerate pureed or thickened feeds, and 3 patients required gastrostomy tube insertion. MRI of the brain was normal in 50% of the patients. A smaller proportion was noted to have mild cortical atrophy (30%), delayed myelination (20%) and/or hypoplastic optic nerves (20%). Functional studies were performed on differentiated induced pluripotent cells from one child, which confirmed a decrease in ATP8A2 expression compared to control cells. CONCLUSIONS: ATP8A2 gene mutations have emerged as the cause of a novel neurological phenotype characterized by global developmental delays, severe hypotonia and hyperkinetic movement disorders, the latter being an important distinguishing feature. Optic atrophy is common and may only become apparent in the first few years of life, necessitating repeat ophthalmologic evaluation in older children. Early recognition of the cardinal features of this condition will facilitate diagnosis of this complex neurologic disorder.

J Genet Couns ; 25(6): 1267-1275, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27207686


Use of apolipoprotein E genotyping to personalize the risk of a poor recovery after traumatic brain injury is complicated by the potential for genetic discrimination and the potential to reveal an increased risk for late onset Alzheimer's disease. We developed a survey to gauge interest in testing among athletes participating in National Collegiate Athletic Association programs. Eight hundred and forty seven student-athletes were surveyed to determine their interest in genetic testing, their willingness to share the results of testing with parents, coaches and physicians, their concerns about privacy and/or discrimination, and their interest in genetic counseling. Nearly three quarters of respondents expressed some level of interest in testing, with the largest number describing themselves as 'possibly interested' (54.9 %, n = 463) and a smaller number describing themselves as 'very interested' (18.9 %, n = 159). Most student-athletes said that receiving secondary information about their risk for late-onset Alzheimer's disease made them more likely to test (50.6 %, n = 426) rather than less likely to test (12.4 %, n = 104). Student-athletes were open to apolipoprotein E genotyping and willing to share test results with their parents, coaches and physicians. They did not anticipate that test results would impact their behavior or ability to play. Testing programs may be welcome but should provide clear information as to risks and benefits.

Doença de Alzheimer/genética , Apolipoproteínas E/genética , Atletas/psicologia , Lesões Encefálicas Traumáticas/terapia , Predisposição Genética para Doença , Adolescente , Adulto , Doença de Alzheimer/metabolismo , Lesões Encefálicas Traumáticas/metabolismo , Feminino , Aconselhamento Genético , Testes Genéticos , Humanos , Masculino , Prognóstico , Opinião Pública , Estudantes/psicologia , Inquéritos e Questionários , Adulto Jovem
Dementia (London) ; 15(6): 1622-1642, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25645139


Research investigating behavioural-variant frontotemporal dementia has concentrated on identifying and quantifying people's difficulties; yet few studies have considered how people with behavioural-variant frontotemporal dementia make sense of their difficulties. Five participants were interviewed and interpretive phenomenological analysis used to analyse the data. Two superordinate themes emerged: 'Bewilderment' and 'Relationships with others'. 'Bewilderment' reflected the feelings of the participants from the start of their dementia, and was divided into two main themes (1) 'Awareness of change: What's the problem? and (2) Threats to self: This is not me. The superordinate theme, 'Relationships with others', reflected difficulties with social relationships and comprised two main themes (1) 'Family and friends: Things haven't changed… but do I say anything wrong?' and (2) Coping with threats to self: Blame others or just avoid them. The themes were discussed in relation to literature evaluating the difficulties associated with behavioural-variant frontotemporal dementia together with implications for clinical practice.

Demência Frontotemporal/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Relações Interpessoais , Adaptação Psicológica , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pesquisa Qualitativa , Autoimagem
BJOG ; 109(10): 1175-7, 2002 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-12387473


The literature suggests that up to 19% of umbilical cord blood samples are invalid. Accordingly, it has been proposed that blood should be universally collected from both vessels. We prospectively collected paired arterial and venous blood to examine whether our centre, where staff were experienced in single vessel collection, was more accurate. Of 289 paired samples, 53 (18.3%) were considered invalid. Despite this significant error rate, we propose that routinely, only arterial sampling is needed and that an additional venous sample need only be taken to validate samples in cases of pH < 7.15, a difficult delivery or a non-vigorous baby.

Coleta de Amostras Sanguíneas/métodos , Sangue Fetal/química , Coleta de Amostras Sanguíneas/normas , Parto Obstétrico , Feminino , Humanos , Concentração de Íons de Hidrogênio , Recém-Nascido , Gravidez , Estudos Prospectivos , Sensibilidade e Especificidade , Artérias Umbilicais , Veias Umbilicais