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Artigo em Inglês | MEDLINE | ID: mdl-31665337


CONTEXT: There is little information on cognitive function in Silver Russell Syndrome (SRS) and no neuroimaging studies are available so far. OBJECTIVE: To assess cognitive function and brain volumes in patients with SRS. DESIGN/SETTING: Wechsler Intelligence Scale and Brain magnetic resonance on a 3-Tesla scanner with Voxel-based morphometry analysis were performed between 2016-2018 in a single tertiary University Center. PARTECIPANTS: 38 Caucasian subjects with clinical diagnosis of SRS confirmed by molecular analysis. 30 of these patients (mean age 12.6±10 years) were enrolled for cognitive assessment; 23 of the 30 performed neuroimaging sequences. A control group of 33 school-age children performed cognitive assessment while 65 age and sex-matched volunteers were included for the neuroradiological assessment. MAIN OUTCOMES: Intelligence Quotient (IQ); Verbal Comprehension Index (VCI), Perceptual Reasoning Index (PRI); Working Memory Index (WMI); Processing Speed Index (PSI); Brain Volume. RESULTS: The mean overall IQ score was 87.2±17 and it was significantly lower in the mUPD7 group at the age of 6-16 years compared to 11p15LOM group and to controls. VCI, PRI and WMI were significantly higher in 11p15LOM group and in control group than in mUPD7 group at the age of 6-16 years. There were no significant differences in cognitive scores between 11p15LOM school-aged patients and the control group. SRS patients showed lower brain volume compared to controls at the frontal/temporal poles and globi pallidi. CONCLUSIONS: Patients with mUPD7 had an impaired cognitive profile. The brain volume at the frontal/temporal lobes and at the globi pallidi was reduced in patients with SRS.

Lancet Respir Med ; 6(10): 759-770, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30170904


BACKGROUND: In fibrotic interstitial lung diseases, exertional breathlessness is strongly linked to health-related quality of life (HRQOL). Breathlessness is often associated with oxygen desaturation, but few data about the use of ambulatory oxygen in patients with fibrotic interstitial lung disease are available. We aimed to assess the effects of ambulatory oxygen on HRQOL in patients with interstitial lung disease with isolated exertional hypoxia. METHODS: AmbOx was a prospective, open-label, mixed-method, crossover randomised controlled clinical trial done at three centres for interstitial lung disease in the UK. Eligible patients were aged 18 years or older, had fibrotic interstitial lung disease, were not hypoxic at rest but had a fall in transcutaneous arterial oxygen saturation to 88% or less on a screening visit 6-min walk test (6MWT), and had self-reported stable respiratory symptoms in the previous 2 weeks. Participants were randomly assigned (1:1) to either oxygen treatment or no oxygen treatment for 2 weeks, followed by crossover for another 2 weeks. Randomisation was by a computer-generated sequence of treatments randomly permuted in blocks of constant size (fixed size of ten). The primary outcome, which was assessed by intention to treat, was the change in total score on the King's Brief Interstitial Lung Disease questionnaire (K-BILD) after 2 weeks on oxygen compared with 2 weeks of no treatment. General linear models with treatment sequence as a fixed effect were used for analysis. Patient views were explored through semi-structured topic-guided interviews in a subgroup of participants. This study was registered with, number NCT02286063, and is closed to new participants with all follow-up completed. FINDINGS: Between Sept 10, 2014, and Oct 5, 2016, 84 patients were randomly assigned, 41 randomised to ambulatory oxygen first and 43 to no oxygen. 76 participants completed the trial. Compared with no oxygen, ambulatory oxygen was associated with significant improvements in total K-BILD scores (mean 55·5 [SD 13·8] on oxygen vs 51·8 [13·6] on no oxygen, mean difference adjusted for order of treatment 3·7 [95% CI 1·8 to 5·6]; p<0·0001), and scores in breathlessness and activity (mean difference 8·6 [95% CI 4·7 to 12·5]; p<0·0001) and chest symptoms (7·6 [1·9 to 13·2]; p=0·009) subdomains. However, the effect on the psychological subdomain was not significant (2·4 [-0·6 to 5·5]; p=0·12). The most common adverse events were upper respiratory tract infections (three in the oxygen group and one in the no-treatment group). Five serious adverse events, including two deaths (one in each group) occurred, but none were considered to be related to treatment. INTERPRETATION: Ambulatory oxygen seemed to be associated with improved HRQOL in patients with interstitial lung disease with isolated exertional hypoxia and could be an effective intervention in this patient group, who have few therapeutic options. However, further studies are needed to confirm this finding. FUNDING: UK National Institute for Health Research.

Doenças Pulmonares Intersticiais/terapia , Oxigenoterapia/métodos , Oxigênio/administração & dosagem , Fibrose Pulmonar/terapia , Qualidade de Vida , Idoso , Estudos Cross-Over , Feminino , Humanos , Análise de Intenção de Tratamento , Modelos Lineares , Doenças Pulmonares Intersticiais/psicologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Fibrose Pulmonar/psicologia , Resultado do Tratamento
Trials ; 18(1): 201, 2017 04 28.
Artigo em Inglês | MEDLINE | ID: mdl-28454553


BACKGROUND: Fibrotic interstitial lung diseases (ILDs) are chronic and often progressive conditions resulting in substantial morbidity and mortality. Shortness of breath, a symptom often linked to oxygen desaturation on exertion, is tightly linked to worsening quality of life in these patients. Although ambulatory oxygen is used empirically in their treatment, there are no ILD-specific guidelines on its use. To our knowledge, no studies are available on the effects of ambulatory oxygen on day-to-day life in patients with ILD. METHODS/DESIGN: Ambulatory oxygen in fibrotic lung disease (AmbOx) is a multicentre, randomised controlled crossover trial (RCT) funded by the Research for Patient Benefit Programme of the National Institute for Health Research. The trial will compare ambulatory oxygen used during daily activities with no ambulatory oxygen in patients with fibrotic lung disease whose oxygen saturation (SaO2) is ≥94% at rest, but drops to ≤88% on a 6-min Walk Test. The randomised controlled trial (RCT) will evaluate the effects on health status (measured by the King's Brief ILD Questionnaire: K-BILD) of ambulatory oxygen used at home, at an optimal flow rate determined by titration at screening visit, and administered for a 2-week period, compared to 2 weeks off oxygen. Key secondary outcomes will include breathlessness on activity scores, as measured by the University of California San Diego Shortness of Breath Questionnaire, global patient assessment of change scores, as well as quality of life scores (St George's Respiratory Questionnaire), anxiety and depression scores (Hospital Anxiety and Depression Scale), activity markers measured by SenseWear Armbands, pulse oximetry measurements, patient-reported daily activities, patient- and oxygen company-reported oxygen cylinder use. The study also includes a qualitative component and will explore in interviews patients' experiences of the use of a portable oxygen supply and trial participation in a subgroup of 20 patients and carers. DISCUSSION: This is the first RCT of the effects of ambulatory oxygen during daily life on health status and breathlessness in fibrotic lung disease. The results generated should provide the basis for setting up ILD-specific guidelines for the use of ambulatory oxygen. TRIAL REGISTRATION: National Clinical Trials Registry, identifier: NCT02286063 . Registered on 8 October 2014 (retrospectively registered).

Assistência Ambulatorial/métodos , Dispneia/terapia , Fibrose Pulmonar Idiopática/terapia , Doenças Pulmonares Intersticiais/terapia , Pulmão/fisiopatologia , Oxigenoterapia/métodos , Atividades Cotidianas , Biomarcadores/sangue , Protocolos Clínicos , Estudos Cross-Over , Dispneia/sangue , Dispneia/diagnóstico , Dispneia/fisiopatologia , Nível de Saúde , Humanos , Fibrose Pulmonar Idiopática/sangue , Fibrose Pulmonar Idiopática/diagnóstico , Fibrose Pulmonar Idiopática/fisiopatologia , Doenças Pulmonares Intersticiais/sangue , Doenças Pulmonares Intersticiais/diagnóstico , Doenças Pulmonares Intersticiais/fisiopatologia , Oximetria , Oxigênio/sangue , Oxigenoterapia/efeitos adversos , Estudos Prospectivos , Projetos de Pesquisa , Inquéritos e Questionários , Fatores de Tempo , Resultado do Tratamento , Reino Unido , Teste de Caminhada
Am J Intellect Dev Disabil ; 120(3): 193-202, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25928432


The aim of the present study was to compare visuospatial working memory performance in 18 individuals with Williams syndrome (WS) and 18 typically developing (TD) children matched for nonverbal mental age. Two aspects were considered: task presentation format (i.e., spatial-sequential or spatial-simultaneous), and level of attentional control (i.e., passive or active tasks). Our results showed that individuals with WS performed less well than TD children in passive spatial-simultaneous tasks, but not in passive spatial-sequential tasks. The former's performance was also worse in both active tasks. These findings suggest an impairment in the spatial-simultaneous working memory of individuals with WS, together with a more generalized difficulty in tasks requiring information storage and concurrent processing, as seen in other etiologies of intellectual disability.

Função Executiva/fisiologia , Memória de Curto Prazo/fisiologia , Percepção Espacial/fisiologia , Síndrome de Williams/fisiopatologia , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Adulto Jovem
Res Dev Disabil ; 37: 37-44, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25460218


Williams syndrome (WS) is a neurodevelopmental disorder associated with an impaired capacity for visuospatial representation. Individuals with WS have a specific weakness in spatial processing, while visual components are relatively well preserved. This dissociation is apparent in working memory function too. The present study aimed to further investigate spatial working memory performance in individuals with WS, analyzing whether their impaired WM performance regards both simultaneous and sequential spatial formats, and whether presenting configurations differently might reduce their difficulties. These issues were examined by administering simultaneous and sequential spatial tasks, in which the information to be recalled was presented in random or arranged configurations. Our results showed that individuals with WS performed less well than typically developing (TD) children in the spatial-simultaneous task, but not in the spatial-sequential one. The presence of a pattern enhanced the performance of both groups, but the difference between the two groups' performance in the spatial simultaneous task remained, albeit to a lesser degree.

Desenvolvimento do Adolescente , Desenvolvimento Infantil , Memória de Curto Prazo/fisiologia , Percepção Espacial/fisiologia , Síndrome de Williams/psicologia , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Síndrome de Williams/fisiopatologia