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1.
Health Educ Res ; 38(3): 241-253, 2023 05 22.
Artigo em Inglês | MEDLINE | ID: mdl-36715722

RESUMO

Early intervention to support mental health and well-being of school-aged children may be of significant benefit in preventing escalation of mental health problems in later life. While there are limitations to current understanding of the best ways for schools to support mental well-being, a whole school approach (WSA), involving all those who are part of the school system in creating and sustaining a supportive environment where health is prioritized, may be effective. This research explored stakeholder views of this approach, as part of a contract commissioned by the Welsh Government to conduct an evaluability assessment of a WSA. Semistructured focus groups and interviews were completed with stakeholders from the health and education sectors, as well as parents, to explore how a WSA may operate in a Welsh context and barriers and facilitators to potential implementation and outcomes. Findings suggest that existing pressures on schools may impact implementation of a WSA, with school staff already time poor and many staff experiencing their own mental well-being challenges. Implementation may be supported by clear guidance at local and national levels, funding for staff time and training and stakeholder involvement at all stages. Long-term monitoring and evaluation are also needed to understand system changes.


Assuntos
Saúde Mental , Instituições Acadêmicas , Criança , Humanos , País de Gales , Grupos Focais , Emoções
2.
Clin Exp Dermatol ; 45(2): 147-152, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31742740

RESUMO

Melanoma-associated retinopathy (MAR) is a rare paraneoplastic autoimmune manifestation of cutaneous malignant melanoma. Patients classically present with acute onset night blindness, positive visual phenomena and visual field defects, and typically have significantly reduced quality of life as a result. Early recognition of MAR is of prognostic significance as it can precede the diagnosis of primary or metastatic malignant melanoma, and early treatment can lower the risk of irreversible immunological damage to the retinal cells with improved visual outcomes. The focus of our review article is therefore to raise awareness of MAR and present the latest evidence relating to the investigation and management of this condition.


Assuntos
Imunoterapia , Melanoma/complicações , Síndromes Paraneoplásicas Oculares/diagnóstico , Neoplasias Cutâneas/complicações , Humanos , Melanoma/diagnóstico , Melanoma/cirurgia , Cegueira Noturna/etiologia , Cegueira Noturna/terapia , Síndromes Paraneoplásicas Oculares/imunologia , Síndromes Paraneoplásicas Oculares/terapia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/cirurgia , Campos Visuais , Melanoma Maligno Cutâneo
3.
Eye (Lond) ; 33(7): 1073-1080, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30787443

RESUMO

BACKGROUND: Overdiagnosis of papilloedema is common and carries significant potential for morbidity from over-investigation and over-treatment. We aimed to determine the community prevalence of false positive diagnosis of papilloedema (FPE) on fundus imaging. METHODS: We evaluated fundus images from a community cross-section of 198 12-14-year-olds from the Avon Longitudinal Study of Parents and Children (ALSPAC) longitudinal cohort study database and patient images from our hospital departmental database with and without papilloedema. We asked clinicians, in isolation, to rate the subjects as a forced choice task to "papilloedema" or "not papilloedema" based on the fundus images alone. Raters comprised (i) four neuro-ophthalmologists, (ii) four ophthalmologists, (iii) four neurologists and (iv) four emergency medicine physicians. RESULTS: The prevalence of FPE in the ALSPAC population, defined as images mistaken as papilloedema by χ% of raters (Pχ) varied from P100 = 0% to P50 = 21.3 ± 3.9%. In the hospital population, there was a lower rate of FPE, P50 = 7.1 ± 10.8%. Sensitivity for papilloedema detection approached 100%, though three raters incorrectly labelled the same patient with unilateral disc swelling as normal, all other cases were detected by all raters. CONCLUSIONS: Fundus photography assessment in isolation is highly sensitive but poorly specific for papilloedema detection. Using this method to screen the general population has significant potential for harm as overdiagnosis occurs, even in the hands of experienced clinicians.


Assuntos
Disco Óptico/patologia , Papiledema/diagnóstico , Acuidade Visual , Adolescente , Criança , Reações Falso-Positivas , Feminino , Seguimentos , Humanos , Incidência , Masculino , Papiledema/epidemiologia , Papiledema/fisiopatologia , Prevalência , Estudos Retrospectivos , Reino Unido/epidemiologia
7.
Interv Neuroradiol ; 16(3): 322-5, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20977868

RESUMO

A 69-year-old hypertensive woman with a hyperdynamic, left brachio-basilic dialysis fistula presented with a long history of throbbing in her head, swelling of the left side of the face and two months of right visual loss with gross swelling of the right optic disc. Tight stenosis of left brachiocephalic vein was found to be causing retrograde flow into the left jugular vein which normalised after dilatation and stenting with resolution of the papillodema.


Assuntos
Fístula Arteriovenosa/complicações , Veias Braquiocefálicas/patologia , Edema/etiologia , Papiledema/etiologia , Transtornos da Visão/etiologia , Idoso , Fístula Arteriovenosa/diagnóstico por imagem , Fístula Arteriovenosa/patologia , Veias Braquiocefálicas/diagnóstico por imagem , Edema/patologia , Olho/irrigação sanguínea , Face/irrigação sanguínea , Feminino , Humanos , Veias Jugulares/diagnóstico por imagem , Veias Jugulares/patologia , Imageamento por Ressonância Magnética , Papiledema/patologia , Flebografia , Transtornos da Visão/patologia
8.
Eur Neurol ; 62(2): 105-8, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19521086

RESUMO

AIM: To document the causal association of iron deficiency anaemia (IDA) and intracranial hypertension (IH). METHODS: A consecutive case note review of patients with a clinical diagnosis of idiopathic intracranial hypertension (IIH) and anaemia presenting to a tertiary referral unit over a 2.5-year period. Demographics, aetiology and clinical details were recorded and analysed. RESULTS: Eight cases were identified from 77 new cases presenting with IIH. All 8 had documented microcytic anaemia with clinical evidence of raised intracranial pressure. There was no evidence of venous sinus thrombosis on MRI and MR venography in 7 subjects and on repeated CT venography in 1. On correction of anaemia alone, 7 cases resolved. One patient with severe progressive visual loss underwent ventriculoperitoneal shunt in addition to treatment of anaemia, with good outcome. The incidence of this association is 10.3%. CONCLUSION: These cases present an association between IDA and IH, in the absence of cerebral sinus thrombosis. As a clinically significant proportion of cases presenting with signs of IIH have IDA, we recommend all patients presenting with IIH have full blood counts and if they are found to be anaemic, they should be treated appropriately.


Assuntos
Anemia Ferropriva/terapia , Hipertensão Intracraniana/terapia , Adolescente , Adulto , Anemia Ferropriva/complicações , Anemia Ferropriva/patologia , Encéfalo/irrigação sanguínea , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Feminino , Humanos , Hipertensão Intracraniana/complicações , Hipertensão Intracraniana/patologia , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Flebografia , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Derivação Ventriculoperitoneal , Adulto Jovem
9.
Clin Endocrinol (Oxf) ; 70(6): 863-9, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18771566

RESUMO

OBJECTIVE: The aetiology of idiopathic intracranial hypertension (IIH) is not known, but its association with obesity is well-recognized. Recent studies have linked obesity with abnormalities in circulating inflammatory and adiposity related cytokines. The aim of this study was to characterize adipokine and inflammatory cytokine profiles in IIH. DESIGN: Paired serum and cerebrospinal fluid (CSF) specimens were collected from 26 patients with IIH and compared to 62 control subjects. Samples were analysed for leptin, resistin, adiponectin, insulin, IL-1beta, IL-6, IL-8 (CXCL8), TNFalpha, MCP-1 (CCL2), hepatocyte growth factor, nerve growth factor and PAI-1 using multiplex bead immunoassays. RESULTS: CSF leptin was significantly higher in patients with IIH (P = 0.001) compared to controls after correction for age, gender and body mass index (BMI). In the control population, BMI correlated with serum leptin (r = 0.34; P = 0.007) and CSF leptin (r = 0.51; P < 0.0001), but this was not the case for the IIH population. Profiles of other inflammatory cytokines and adipokines did not differ between IIH patients and controls once anthropometric factors had been accounted for. CONCLUSIONS: IIH was characterized by significantly elevated CSF leptin levels which did not correlate with BMI. We suggest that CSF leptin may be important in the pathophysiology of IIH and that obesity in IIH may occur as a result of hypothalamic leptin resistance.


Assuntos
Resistência a Medicamentos , Hipotálamo/fisiopatologia , Leptina/líquido cefalorraquidiano , Pseudotumor Cerebral/fisiopatologia , Adipocinas/sangue , Adipocinas/líquido cefalorraquidiano , Adulto , Índice de Massa Corporal , Estudos de Casos e Controles , Citocinas/sangue , Citocinas/líquido cefalorraquidiano , Feminino , Humanos , Hipotálamo/efeitos dos fármacos , Leptina/sangue , Pessoa de Meia-Idade , Pseudotumor Cerebral/sangue , Pseudotumor Cerebral/líquido cefalorraquidiano
10.
Eye (Lond) ; 23(3): 640-4, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18327160

RESUMO

PURPOSE: To establish the contemporary aetiology of adult superior oblique palsy (SOP). MATERIALS AND METHODS: A retrospective consecutive case series of 150 persons diagnosed with SOP between 1 January 1999 and 31 May 2005 at a neuro-ophthalmology centre in the West Midlands, the United Kingdom. Interrogating two different hospital databases identified all cases. A case note review was performed on all participants to determine demographics and aetiology based on diagnostic criteria, neuroimaging used, and outcome. RESULTS: We identified 133 unilateral isolated, 7 unilateral associated with other cranial nerve involvement, and 10 bilateral cases of SOP. Eighty-six were acquired, 51 congenital, and 13 undetermined. Of the unilateral isolated cases, 38.3% were considered to be congenital, 29.3% followed trauma, 23.3% were presumed to be vasculopathic in origin, and no cause could be established in 7.5%. All presumed microvascular-associated palsies resolved within 6 months of presentation. Unilateral SOPs associated with other cranial nerve palsies were commonly caused by trauma (71.4%), followed by tumour and undetermined causes (both 14.3%). Trauma was the most frequent cause of bilateral SOP (50%), followed by tumours and undetermined causes (both 20%), with congenital causes being uncommon (10%). CONCLUSION: We present a contemporary aetiological spectrum for adult SOP, with the lowest incidence of undetermined cases published in the medical literature. Neuroimaging did not change the management for the vast majority of cases and should be prompted by atypical presentations.


Assuntos
Doenças do Nervo Troclear/etiologia , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Neoplasias Encefálicas/complicações , Humanos , Hipertensão/complicações , Pessoa de Meia-Idade , Neoplasias Orbitárias/complicações , Prognóstico , Estudos Retrospectivos , Doenças do Nervo Troclear/congênito , Doenças do Nervo Troclear/diagnóstico , Traumatismos do Nervo Troclear , Adulto Jovem
11.
J Neuroendocrinol ; 19(8): 614-20, 2007 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17620103

RESUMO

The epithelial cells of the choroid plexus (CP) are responsible for cerebrospinal fluid (CSF) secretion into the ventricles of the brain. The balance between CSF production and drainage, in part, facilitates a normal intracranial pressure. The secretion of Na(+) and anions by the CP creates an osmotic gradient driving water into the ventricles. This is opposite to classical Na(+) transporting tissues, such as the kidney, where Na(+) and water reabsorption is mediated by 11beta-hydroxysteroid dehydrogenase type 2 that protects the mineralocorticoid receptor by abrogating active cortisol to inactive cortisone. In the human ocular ciliary epithelium, Na(+) and water secretion is dependent on a novel mediator of ciliary epithelial Na(+) transport, 11beta-HSD type 1 (11beta-HSD1), that generates intraocular cortisol. In a mechanism analogous to that of the embryologically related ocular ciliary epithelium, we propose that autocrine regulation of intracranial cortisol is dependent on 11beta-HSD1 expression in the CP epithelial cells. By conducting immunolocalisation studies on brains from New Zealand White Albino rabbits, we defined the expression of 11beta-HSD1 in the secretory CP epithelial cells. Enzyme assays performed on intact rabbit CP whole tissue explants confirmed predominant 11beta-HSD1 activity, generating cortisol that was inhibited by glycyrrhetinic acid (an 11beta-HSD inhibitor). Using the real time-polymerase chain reaction, rabbit CP tissue was found to express levels of 11beta-HSD1, glucocorticoid receptor alpha and serum and glucocorticoid-regulated kinase 1 mRNA comparable to that expressed in rabbit ocular ciliary body, thereby highlighting the similarity between these two tissues. Furthermore, an enzyme-linked immunosorbent assay of rabbit CSF revealed a median cortisol concentration of 1.7 nmol/l (range 1.4-4.3 nmol/l, n = 9). Our data have identified a functional 11beta-HSD1 within the CP, mediating intracranial cortisol bioavailability. Expression of 11beta-HSD1 may be fundamental in the regulation of CSF secretion and the local generation of cortisol may represent a pathophysiological mechanism underlying cortisol-dependent neuroendocrine diseases.


Assuntos
11-beta-Hidroxiesteroide Desidrogenase Tipo 1/metabolismo , Corticosteroides/líquido cefalorraquidiano , Plexo Corióideo/enzimologia , 11-beta-Hidroxiesteroide Desidrogenase Tipo 1/genética , Animais , Plexo Corióideo/metabolismo , Ensaio de Imunoadsorção Enzimática , Feminino , Hidrocortisona/análise , Hidrocortisona/líquido cefalorraquidiano , Imuno-Histoquímica , Isoenzimas/metabolismo , Coelhos , Reação em Cadeia da Polimerase Via Transcriptase Reversa
14.
J Neurol Neurosurg Psychiatry ; 70(4): 514-6, 2001 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-11254776

RESUMO

A patient with Wilson's disease is described who presented with dystonic tremor in a family with an apparent dominant history of tremor. Subsequent investigation showed that the patient's mother had essential tremor, with molecular analysis of the ATP7B gene excluding the possibility of pseudodominant inheritance. This case highlights the importance of considering the possibility of Wilson's disease in every young patient with a movement disorder, even where the clinical picture does not suggest a recessively inherited disorder.


Assuntos
Distúrbios Distônicos/genética , Degeneração Hepatolenticular/diagnóstico , Degeneração Hepatolenticular/genética , Tremor/genética , Adolescente , Distúrbios Distônicos/complicações , Humanos , Masculino , Linhagem , Tremor/complicações
15.
Ophthalmology ; 106(1): 123-8, 1999 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-9917792

RESUMO

OBJECTIVE: To describe the clinical findings and refine the clinical diagnostic criteria for dominant optic atrophy based on eight British families in which the diagnosis was confirmed by linkage analysis. DESIGN AND PARTICIPANTS: Case series; 92 subjects in 8 pedigrees had both eyes examined. INTERVENTION: Family members received a domiciliary examination based on best-corrected visual acuity, color vision using Ishihara and Hardy Richter Rand (HRR) plates, confrontation field testing using a red target, and optic disc evaluation using a direct ophthalmoscope. Genomic DNA was extracted from leukocytes or buccal mucosal cells and genotyped using 12 fluorescently labeled microsatellite markers from the region 3q27-q29. MAIN OUTCOME MEASURES: Subjects were classified clinically as definitely or possibly affected on the basis of the domiciliary examination before genetic analysis, and these results were compared with the haplotype analysis. RESULTS: Clinically, 43 subjects were identified as definitely affected, 4 as possibly affected, and 45 as unaffected. Visual acuity in affected subjects ranged from 6/6 to count fingers and declined with age. On genetic analysis, a haplotype was identified in each family, which was found in all definitely affected members but not in those regarded as unaffected. The four possibly affected individuals also bore the haplotype that segregated with the disease. CONCLUSIONS: Simple clinical tests are highly efficacious in diagnosing dominant optic atrophy. Contrary to accepted criteria, symptoms begin before the age of 10 years in only 58% of affected individuals. Visual acuity in affected subjects is highly variable. A mild degree of temporal or diffuse pallor of the optic disc and minimal color vision defects, in the context of a family with dominant optic atrophy, are highly suggestive of an individual being affected, even if the visual acuity is normal. This widens the generally accepted diagnostic criteria for this disease.


Assuntos
Cromossomos Humanos Par 3/genética , Genes Dominantes/genética , Ligação Genética , Atrofias Ópticas Hereditárias/diagnóstico , Atrofias Ópticas Hereditárias/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , DNA/análise , Genótipo , Haplótipos , Humanos , Pessoa de Meia-Idade , Linhagem , Acuidade Visual
17.
Arch Ophthalmol ; 115(1): 100-3, 1997 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-9006433

RESUMO

OBJECTIVES: To perform DNA linkage studies in an extensive 5-generation British pedigree with dominant optic atrophy and to validate the efficacy of domiciliary screening for affected members. METHODS: Family members received a domiciliary examination based on corrected visual acuity, color vision, visual field defects, and optic disc appearance; DNA linkage analysis was performed using 7 microsatellite markers on 3q27-qter. RESULTS: Based on the results of the ophthalmic examination, 15 members could be classified as definitely affected, 1 probably affected, and 25 unaffected. Two-point linkage analysis gave significant maximum lod scores at theta [corrected] = 0.00, with the markers D3S3669, D3S3590, and D3S3642. A haplotype segregating with the disease was identified in affected individuals, including the probably affected subject. Informative meioses defined the disease interval between markers D3S1601 and D3S1265. CONCLUSIONS: Domiciliary screening was effective in identifying all 16 affected members of a British family with dominant optic atrophy. The typical clinical features were present. The location of the OPA1 gene in this new British family seems to be in the 3q27-28 region and is the same as that reported in Danish, Cuban, and French families, suggesting no genetic heterogeneity in this disorder.


Assuntos
Cromossomos Humanos Par 3/genética , Ligação Genética/genética , Atrofias Ópticas Hereditárias/genética , Atrofias Ópticas Hereditárias/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Mapeamento Cromossômico , Percepção de Cores , DNA/análise , Feminino , Humanos , Masculino , Repetições de Microssatélites , Pessoa de Meia-Idade , Linhagem , Reino Unido , Transtornos da Visão/diagnóstico , Transtornos da Visão/genética , Acuidade Visual , Campos Visuais
18.
J Med Genet ; 34(12): 967-72, 1997 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-9429135

RESUMO

Dominant optic atrophy, Kjer type, is an autosomal dominant disorder causing progressive loss of visual acuity and colour vision from early childhood. The gene (OPA1) has variable expressivity, a penetrance of 0.98, and the locus has been localised to 3q28-29. We have genotyped nine British families with the disease using 12 polymorphic microsatellite markers from this region. Linkage and haplotype analysis shows the OPA1 gene to be located in a 2.3 cM interval between markers D3S1601 and D3S2748. One family showed no evidence of linkage with the chromosome 3 markers, suggesting for the first time that locus heterogeneity for this disease may exist, although exclusion for linkage is based on unaffected subjects. In addition, analysis of recombinants has enabled us to order the 12 markers along chromosome 3.


Assuntos
Ligação Genética , Atrofias Ópticas Hereditárias/genética , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Genes Dominantes , Variação Genética , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem
19.
Curr Opin Neurol ; 9(1): 16-20, 1996 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-8722658

RESUMO

Prominent amongst last year's diverse papers on the retina were a study of the clinical manifestations of dominant cerebellar ataxia with pigmentary macular dystrophy, a review of the pathogenesis of carcinoma associated retinopathy, the Ischaemic Optic Neuropathy Decompression Trial, and a review of congenital optic disc anomalies. Ocular complications of several neurosurgical procedures were also reported during this period.


Assuntos
Ataxia Cerebelar/patologia , Degeneração Retiniana/patologia , Doenças Retinianas/patologia , Humanos , Doenças do Nervo Óptico/patologia
20.
Curr Opin Ophthalmol ; 6(3): 76-9, 1995 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-10150874

RESUMO

Retinal detachment surgery can now achieve a final reattachment rate in over 90% of cases. The operation of choice in most cases is that of external scleral buckling with or without drainage of subretinal fluid. However, in a minority of cases these techniques are difficult to apply either when the breaks are unseen due to media opacities or when the breaks are complex, eg, posterior, large, or multiple breaks at different distances from the ora. Improvements in the technique of pars plana vitrectomy for retinal detachment now offers us an alternative method for treating these difficult cases. Pars plana vitrectomy for retinal detachments with unseen or complex breaks has a final attachment rate of over 90%, is technically easier to perform than conventional surgery, and avoids the refractive and ocular motility problems associated with complicated buckles. For these reasons and despite the high risk of nuclear sclerosis in phakic eyes, a pars plana vitrectomy may be the preferred option in selected cases of primary retinal detachment.


Assuntos
Descolamento Retiniano/cirurgia , Recurvamento da Esclera , Vitrectomia , Humanos , Resultado do Tratamento
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