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1.
Subst Use Misuse ; 59(2): 291-299, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37876238

RESUMO

BACKGROUND: Alcohol dependence is common, yet highly undertreated. Smartphone applications (apps) have potential to enhance treatment accessibility and effectiveness, however evidence is limited, especially studies focussing on user experiences. The aim was to describe patient perceptions on the usability and acceptability of self-monitoring apps provided as treatment complement for alcohol dependence. METHODS: Individual semi-structured interviews were conducted through video or phone calls with 21 participants, recruited from a randomized controlled trial at a dependency clinic in Stockholm. The participants had used two specific apps for self-monitoring consumption ("Glasklart" and "iBAC") during 12 wk prior to the interviews. Data was analyzed using Qualitative Content Analysis. RESULTS: Two domains were identified: 1) Smartphone applications as facilitators to treatment, and 2) Barriers to smartphone application use. Using apps within the treatment context was believed to increase the accuracy of the reported consumption. Participants became more aware of their alcohol problem and described the apps as reinforcers that could increase both the motivation to change and the focus on the problem and commitment to treatment. The apps were further described as helpful to control alcohol consumption. However, app usage was constrained by technical problems, unfit app-specific features and procedures, and alcohol-related shame and stigma. DISCUSSION AND CONCLUSIONS: Self-monitoring alcohol apps have several beneficial features that can help assess, track, and control alcohol consumption, and improve communication with clinicians. The results indicate they can be useful complements to treatment for patients with alcohol dependence, but their use can be limited by different, foremost technical, issues.


Smartphone applications for self-monitoring of alcohol consumption may help provide accurate data, increase consumption awareness, focus, motivation, and perceived control;Smartphone applications for self-monitoring of alcohol consumption are considered helpful complements to alcohol treatment;The use of smartphone applications for self-monitoring of alcohol consumption can be constrained by technical problems, and unfit app-specific features and procedures.


Assuntos
Alcoolismo , Aplicativos Móveis , Humanos , Alcoolismo/terapia , Smartphone , Comunicação
2.
Diabet Med ; 35(10): 1364-1370, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-29791040

RESUMO

AIMS: To clarify the frequency and severity of diabetic retinopathy in a group of people with Type 2 diabetes and chronic diabetic foot ulcers, and to compare visual acuity, levels of retinopathy and clinical significant macular oedema with a matched control group of people with Type 2 diabetes without a history of chronic diabetic foot ulcers. METHODS: Visual acuity and fundus imaging were evaluated in 90 white people with at least 3 months' duration of full-thickness diabetic foot ulcers below the ankle and the results compared with those in 180 white people with Type 2 diabetes without a history of chronic diabetic foot ulcers (control group). Controls were matched for age, sex and duration of diabetes. RESULTS: Despite similar age and diabetes duration, severe non-proliferative or proliferative diabetic retinopathy was present in 41% of the people in the diabetic foot ulcer group as compared to 15% in the control group (P<0.001). Only 6% in the diabetic foot ulcer group was without any diabetic retinopathy as compared to 34% among controls. Proliferative diabetic retinopathy was more common in the diabetic foot ulcer group (31% vs 8%; P<0.001), but time-to-proliferative diabetic retinopathy did not differ between groups. Clinically significant macular oedema was more frequently present, and the diabetic foot ulcer group exhibited significantly worse results in best and worst eye visual acuity testing. CONCLUSIONS: In this northern European setting almost all people with Type 2 diabetes and chronic diabetic foot ulcers had diabetic retinopathy. Almost one-third had proliferative diabetic retinopathy as compared to <10% in our matched control group. More advanced diabetic retinopathy was linked to worse visual acuity.


Assuntos
Diabetes Mellitus Tipo 2/epidemiologia , Pé Diabético/epidemiologia , Retinopatia Diabética/epidemiologia , Retinopatia Diabética/patologia , Idoso , Idoso de 80 Anos ou mais , Doença Crônica , Diabetes Mellitus Tipo 2/complicações , Retinopatia Diabética/complicações , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Índice de Gravidade de Doença , Suécia/epidemiologia
3.
Graefes Arch Clin Exp Ophthalmol ; 254(10): 1897-1908, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27080862

RESUMO

PURPOSE: To quantify fixation stability in patients with neovascular age-related macular degeneration (nAMD) at baseline, 3 and 6 months after anti-vascular endothelial growth factor (anti-VEGF) treatment and furthermore asses the implications of an unsteady fixation for multifocal electroretinography (mfERG) measurements. METHODS: Fifty eyes of 50 nAMD patients receiving intravitreal anti-VEGF treatment with either bevacizumab or ranibizumab and eight eyes of eight control subjects were included. Fixation stability measurements were performed with the Eye-Link eyetracking system and the retinal area in degrees2 (deg2) containing the 68 % most frequently used fixation points (RAF68) was calculated. MfERG P1 amplitude and implicit time were analyzed in six concentric rings and as a summed response. Patients were examined at baseline, 3 and 6 months. Four different mfERG recordings were performed for the control subjects to mimic an involuntary unstable fixation: normal central fixation, 2.4°, 4.8°, and 7.1° fixation instability. RESULTS: For control subjects, a fixation instability of 2.4° (corresponding to the central hexagon) did not reduce mfERG ring amplitudes significantly, whereas 4.8° and 7.1° fixation instability reduced the amplitudes significantly in rings 1 and 2 (p < 0.001) as well as in the peripheral rings in the 7.1° instability condition (p < 0.001). Fixation stability improved non-significantly for patients at 3 and 6 months. The size of the retinal area of fixation was at baseline, 3 and 6 months negatively correlated to visual acuity (VA) (rbaseline = -0.65, r3 months = -0.60, and r6 months = -0.66 respectively, p < 0.001) and mfERG amplitudes of the three innermost rings (rbaseline = -0.29, p = 0.042, r3 months = -0.43, p = 0.003 and r6 months = -0.31, p = 0.042). The VA cutoff for a fixation area less than 5 deg2 (approximately the central hexagon) was 65, 77, and 68 ETDRS letters (corresponding a maximal Snellen equivalent of 0.31) at baseline, 3 and 6 months, respectively. CONCLUSIONS: MfERG amplitudes in recordings of nAMD patients are at substantial risk of being reduced due to poor fixation as a large number of patients may use a fixation area of more than 5 deg2. Fixation monitoring during recording as well as interpretation of results should be performed with care, especially in patients with poor visual acuity.


Assuntos
Inibidores da Angiogênese/uso terapêutico , Fixação Ocular/fisiologia , Retina/fisiopatologia , Degeneração Macular Exsudativa/fisiopatologia , Idoso , Idoso de 80 Anos ou mais , Bevacizumab/uso terapêutico , Eletrorretinografia , Feminino , Humanos , Injeções Intravítreas , Masculino , Pessoa de Meia-Idade , Ranibizumab/uso terapêutico , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Acuidade Visual/fisiologia , Degeneração Macular Exsudativa/tratamento farmacológico
4.
Psychol Med ; 44(12): 2513-21, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25055170

RESUMO

BACKGROUND: The aim of the study was to determinate whether schizophrenia patients with a history of cannabis use have a different prognosis, with regards to readmission and hospital duration, compared with those without a history of cannabis use. METHOD: The present investigation was a cohort study of 50,087 Swedish men with data on cannabis use at the ages of 18-20 years. A total of 357 cases of schizophrenia were identified from in-patient care and followed up from 1973 to 2007. RESULTS: Schizophrenia patients with a history of cannabis use had a higher median duration of first hospital episode (59 days v. 30 days). Patients with a history of cannabis use had a higher median rate of readmission (10 times v. four times). Also, total number of hospital days was higher in patients with a history of cannabis use compared with those without (547 days v. 184 days). Patients with a history of cannabis use had an increased odds of having more than 20 hospital readmissions compared with non-users [3.1, 95% confidence interval (CI) 1.3-7.3] as well as an increased odds of hospital admission lasting more than 2 years (2.4, 95% CI 1.1-7.4) after controlling for diagnosis of personality disorders, family socio-economic position, IQ score, civil status, place of residence, risky use of alcohol and use of other drugs. Patients with a history of cannabis use were less likely to have paranoid schizophrenia compared with never users (8% v. 17%) in the first admission. CONCLUSIONS: Schizophrenia patients with a history of cannabis use had a significantly higher burden of lifetime in-patient care than non-cannabis users. Not only does cannabis increase the risk of schizophrenia, but also our findings indicate that the course and prognosis of schizophrenia may be more severe than schizophrenia cases in general.


Assuntos
Cannabis/efeitos adversos , Hospitalização/estatística & dados numéricos , Esquizofrenia/epidemiologia , Seguimentos , Humanos , Tempo de Internação/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Readmissão do Paciente/estatística & dados numéricos , Prognóstico , Esquizofrenia/induzido quimicamente , Esquizofrenia/terapia , Suécia/epidemiologia
6.
Nat Genet ; 26(3): 324-7, 2000 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-11062472

RESUMO

X-linked congenital stationary night blindness (XLCSNB) is characterized by impaired scotopic vision with associated ocular symptoms such as myopia, hyperopia, nystagmus and reduced visual acuity. Genetic mapping in families with XLCSNB revealed two different loci on the proximal short arm of the X chromosome. These two genetic subtypes can be distinguished on the basis of electroretinogram (ERG) responses and psychophysical testing as a complete (CSNB1) and an incomplete (CSNB2) form. The CSNB1 locus has been mapped to a 5-cM linkage interval in Xp11.4 (refs 2,5-7). Here we construct and analyse a contig between the markers DXS993 and DXS228, leading to the identification of a new gene mutated in CSNB1 patients. It is partially deleted in 3 families and mutation analysis in a further 21 families detected another 13 different mutations. This gene, designated NYX, encodes a protein of 481 amino acids (nyctalopin) and is expressed at low levels in tissues including retina, brain, testis and muscle. The predicted polypeptide is a glycosylphosphatidylinositol (GPI)-anchored extracellular protein with 11 typical and 2 cysteine-rich, leucine-rich repeats (LRRs). This motif is important for protein-protein interactions and members of the LRR superfamily are involved in cell adhesion and axon guidance. Future functional analysis of nyctalopin might therefore give insight into the fine-regulation of cell-cell contacts in the retina.


Assuntos
Proteínas do Olho/genética , Genes , Cegueira Noturna/genética , Proteoglicanas/genética , Cromossomo X/genética , Motivos de Aminoácidos , Sequência de Aminoácidos , Encéfalo/metabolismo , Mapeamento Cromossômico , Análise Mutacional de DNA , DNA Complementar/genética , Eletrorretinografia , Proteínas do Olho/química , Proteínas do Olho/fisiologia , Feminino , Perfilação da Expressão Gênica , Heterogeneidade Genética , Marcadores Genéticos , Glicosilfosfatidilinositóis/metabolismo , Humanos , Rim/metabolismo , Leucina/análise , Masculino , Modelos Moleculares , Dados de Sequência Molecular , Família Multigênica , Proteínas Musculares/biossíntese , Proteínas Musculares/genética , Músculos/metabolismo , Proteínas do Tecido Nervoso/biossíntese , Proteínas do Tecido Nervoso/genética , Cegueira Noturna/classificação , Especificidade de Órgãos , Linhagem , Conformação Proteica , Proteoglicanas/química , Proteoglicanas/deficiência , Proteoglicanas/fisiologia , Sequências Repetitivas de Aminoácidos , Retina/metabolismo , Retina/patologia , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Deleção de Sequência , Homologia de Sequência de Aminoácidos , Testículo/metabolismo
7.
Nat Genet ; 19(3): 241-7, 1998 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-9662395

RESUMO

Best macular dystrophy (BMD), also known as vitelliform macular dystrophy (VMD2; OMIM 153700), is an autosomal dominant form of macular degeneration characterized by an abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. In pursuit of the disease gene, we limited the minimum genetic region by recombination breakpoint analysis and mapped to this region a novel retina-specific gene (VMD2). Genetic mapping data, identification of five independent disease-specific mutations and expression studies provide evidence that mutations within the candidate gene are a cause of BMD. The 3' UTR of the candidate gene contains a region of antisense complementarity to the 3' UTR of the ferritin heavy-chain gene (FTH1), indicating the possibility of antisense interaction between VMD2 and FTH1 transcripts.


Assuntos
Proteínas do Olho/genética , Degeneração Macular/genética , Sequência de Aminoácidos , Animais , Sequência de Bases , Bestrofinas , Caenorhabditis elegans/genética , Canais de Cloreto , Mapeamento Cromossômico , Clonagem Molecular , Análise Mutacional de DNA , DNA Complementar , Feminino , Ferritinas/genética , Homologia de Genes , Humanos , Canais Iônicos , Masculino , Camundongos , Dados de Sequência Molecular , Linhagem
8.
Psychol Med ; 42(6): 1321-8, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21999906

RESUMO

BACKGROUND: There is now strong evidence that cannabis use increases the risk of psychoses including schizophrenia, but the relationship between cannabis and different psychotic disorders, as well as the mechanisms, are poorly known. We aimed to assess types of psychotic outcomes after use of cannabis in adolescence and variation in risk over time. METHOD: A cohort of 50 087 military conscripts with data on cannabis use in late adolescence was followed up during 35 years with regard to in-patient care for psychotic diagnoses. RESULTS: Odds ratios for psychotic outcomes among frequent cannabis users compared with non-users were 3.7 [95% confidence interval (CI) 2.3-5.8] for schizophrenia, 2.2 (95% CI 1.0-4.7) for brief psychosis and 2.0 (95% CI 0.8-4.7) for other non-affective psychoses. Risk of schizophrenia declined over the decades in moderate users but much less so in frequent users. The presence of a brief psychosis did not increase risk of later schizophrenia more in cannabis users compared with non-users. CONCLUSIONS: Our results confirm an increased risk of schizophrenia in a long-term perspective, although the risk declined over time in moderate users.


Assuntos
Abuso de Maconha/epidemiologia , Transtornos Psicóticos/epidemiologia , Esquizofrenia/epidemiologia , Adolescente , Adulto , Cannabis/efeitos adversos , Métodos Epidemiológicos , Feminino , Humanos , Pessoa de Meia-Idade , Militares/estatística & dados numéricos , Suécia/epidemiologia , Fatores de Tempo
9.
Alcohol Alcohol ; 47(3): 322-7, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22387338

RESUMO

AIMS: To assess the association between drinking patterns and mortality, and cardiovascular disease in a large cohort of young- and middle-aged men and to assess whether the net balance of harm and protective effect implies protective effect or not. METHODS: Information from health examinations, psychological assessments and alcohol use background in a nationally representative birth cohort of 49,411 male military conscripts aged 18-20 years in 1969/1970, were linked to mortality and hospitalization data through 2004. Cox regression analyses were conducted and attributable proportions (APs) calculated. Confounders (baseline social status, intelligence, personality and smoking) were taken into account. RESULTS: Increasing alcohol use was associated with increasing mortality (2614 deceased) and with decreasing risk for myocardial infarction (MI). The hazard ratio (HR) for mortality was 1.42 [95% confidence interval (CI) 1.10-1.82] with a consumption corresponding to 30 g 100% ethanol/day or more in multivariate analysis. The risk for non-fatal MI was significantly reduced at 60 g 100% ethanol/day (HR 0.37, 95% CI 0.15-0.90), not reduced for fatal MI, and non-significantly reduced for total MI. There was a marked association between alcohol use at conscription and mortality and hospitalization with alcohol-related diagnosis. APs indicate that alcohol caused 420 deaths, 61 cases of non-fatal stroke and protected from 154 cases on non-fatal MI. CONCLUSION: Many more deaths were caused by alcohol than cases of non-fatal MI prevented. From a strict health perspective, we find no support for alcohol use in men below 55 years.


Assuntos
Consumo de Bebidas Alcoólicas/mortalidade , Transtornos Relacionados ao Uso de Álcool/mortalidade , Infarto do Miocárdio/mortalidade , Adolescente , Adulto , Causas de Morte , Estudos de Coortes , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Acidente Vascular Cerebral/mortalidade , Suécia/epidemiologia
10.
Doc Ophthalmol ; 123(3): 193-8, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22057379

RESUMO

The purpose of this study was to investigate the early alterations of retinal function, assessed with electrophysiology, in newly onset type 2 diabetes patients without vascular retinopathy. Seventeen patients with newly diagnosed type 2 diabetes (duration 7±3 months), without any vascular retinopathy in fundus photographs, were examined with full-field electroretinogram (ERG) and multifocal ERG (mfERG). The results were compared with those of age-matched subjects without diabetes. In the dark-adapted full-field ERG, the a-wave and the 30-Hz flicker implicit times were delayed in diabetes patients compared to controls, P=0.001 and P=0.020. In the first-order kernel of the mfERG, the first positive wave, P1, was delayed in all areas measured. The electrophysiological examinations demonstrate early alterations of retinal function characterised by a delayed a-wave implicit time in the dark-adapted full-field ERG, representing the rod signalling, and alterations in the multifocal ERG reflecting cone and/or postreceptoral function.


Assuntos
Adaptação à Escuridão/fisiologia , Diabetes Mellitus Tipo 2/fisiopatologia , Eletrorretinografia/métodos , Retina/fisiopatologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Retinianas/fisiopatologia , Índice de Gravidade de Doença
11.
Langenbecks Arch Surg ; 395(2): 133-7, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19418066

RESUMO

PURPOSE: The purpose of this is to study long-time results of surgery for primary aldosteronism. MATERIALS AND METHODS: Thirty patients operated on for primary aldosteronism were followed for an average of 7 years. All but five required potassium substitution. Systolic as well as diastolic hypertension (mean 157/93 mmHg) was present necessitating one to five antihypertensive drugs daily (mean 2.33). Preoperative indications for surgery included presumed adenoma (aldosterone-producing adenoma (APA)) or in one case unilateral dominance of hyperplasia. RESULTS: Histopathology was classified into adenoma (n = 9), dominant nodule (n = 16), and general hyperplasia without dominating nodules (n = 5), demonstrating a higher frequency of hyperplasia than anticipated. Long-term results revealed well-controlled blood pressure (BP; mean 134/80 mmHg). Antihypertensive medication was reduced (average of 1.78 per day), but only 36% of the patients were taken off these drugs completely. S-Aldosterone was normalized. All but one (a recurrence) were normokalemic without potassium substitution at follow-up. The APA group needed less medication (median 0.5 vs. 1.5 and 2 per day) and more patients in this group were totally medication free (50%). Two recurrences occurred in the group with general hyperplasia without dominating nodules. CONCLUSION: Nodular hyperplasia is more common than anticipated. Hypersecretion of aldosterone may be released from a large nodule identified as an adenoma, as well as from a generally hyperplastic gland that has not been identified as such. Nevertheless, surgery for lateralized disease results in good long-term control of BP with less antihypertensive medication. However, patients with dominant nodule or general hyperplasia without dominating nodules need more postoperative treatment than patients with APA. The majority of patients do not achieve normotension without medications, but they do become normokalemic.


Assuntos
Adenoma/cirurgia , Neoplasias das Glândulas Suprarrenais/cirurgia , Glândulas Suprarrenais/patologia , Hiperaldosteronismo/etiologia , Adenoma/complicações , Adenoma/diagnóstico , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/diagnóstico , Adrenalectomia , Aldosterona/sangue , Análise de Variância , Causalidade , Feminino , Seguimentos , Humanos , Hiperaldosteronismo/sangue , Hiperaldosteronismo/diagnóstico , Hiperaldosteronismo/prevenção & controle , Hiperplasia/complicações , Hiperplasia/cirurgia , Hipertensão/tratamento farmacológico , Hipertensão/etiologia , Hipopotassemia/tratamento farmacológico , Hipopotassemia/etiologia , Laparoscopia , Masculino , Pessoa de Meia-Idade , Renina/sangue , Estatísticas não Paramétricas , Fatores de Tempo , Resultado do Tratamento
12.
Doc Ophthalmol ; 113(3): 179-86, 2006 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17111186

RESUMO

PURPOSE: To evaluate retinal function and histopathology in rabbits treated orally with the anti-epileptic drug topiramate. METHODS: Six rabbits were treated with a daily oral dose of topiramate during a period of eight months. Six rabbits receiving water served as controls. Blood samples were analyzed for determination of topiramate serum levels in order to ensure successful drug exposition. Standardized full-field electroretinograms (ERGs) were performed before treatment and then at 2, 3 and 8 months during the treatment period. After terminating treatment the rabbits were sacrificed and the morphology of the sectioned retina was studied. RESULTS: After eight months of treatment the full-field ERG demonstrated normal rod function in treated and control rabbits, but the light adapted 30 Hz flicker b-wave amplitude was significantly reduced in the treated rabbits. This was the case for both the light adapted (Wilcoxon signed ranks test, P = 0.046) and the dark adapted (Wilcoxon signed ranks test, P = 0.028) 30 Hz flicker response from the treated rabbits. Retinal immunohistology revealed a severe accumulation of GABA in amacrine cells and in the inner plexiform layer in 4 of 6 treated rabbits compared to the controls. CONCLUSIONS: Topiramate, orally administrated to rabbits, may cause a significant reduction of the retinal function demonstrated by the reduced b-wave amplitude in the full-field ERG, as well as changes in immunohistology characterized by a severe accumulation of GABA in the inner retina. The retinal dysfunction and the morphological changes indicate that topiramat may damage the retina, similarly to vigabatrin (another anti-epileptic drug).


Assuntos
Anticonvulsivantes/farmacologia , Eletrorretinografia , Frutose/análogos & derivados , Retina/efeitos dos fármacos , Retina/patologia , Adaptação Ocular , Administração Oral , Células Amácrinas/metabolismo , Animais , Anticonvulsivantes/administração & dosagem , Adaptação à Escuridão , Esquema de Medicação , Frutose/administração & dosagem , Frutose/farmacologia , Imuno-Histoquímica , Estimulação Luminosa/métodos , Coelhos , Retina/metabolismo , Retina/fisiopatologia , Distribuição Tecidual , Topiramato , Ácido gama-Aminobutírico/metabolismo
13.
Pediatrics ; 105(1 Pt 1): 73-8, 2000 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-10617707

RESUMO

OBJECTIVE: Anxiety and pain even in minor procedures are still great problems in pediatrics, not least in pediatric oncology. Conscious sedation is indicated when other means to overcome a child's fear fail. The aim of this study was to investigate whether intranasal administration of midazolam given before insertion of a needle in a subcutaneously implanted central venous port could reduce anxiety, discomfort, pain, and procedure problems. METHOD: Forty-three children with cancer participated in this randomized, double-blind, placebo-controlled, crossover study in which nasal administration of midazolam spray,.2 mg/kg body weight, was compared with placebo. Children, parents, and nurses completed a visual analog scale questionnaire to evaluate efficacy. RESULTS: Parents and nurses reported reduced anxiety, discomfort, and procedure problems for children in the midazolam group and would prefer the same medication at next procedure. They also reported pain reduction. Children reported reduced anxiety and procedure problems but reduction of pain and discomfort was not significant. No serious or unexpected side effects occurred. Nasal discomfort was the most common side effect (17/38 approximately 45%) and the primary reason for dropouts (8/43 approximately 19%). Anxiety varied with age but not with gender. When anxiety increased, the differences between midazolam and placebo increased. CONCLUSION: Nasal midazolam spray offers relief to children anxious about procedures, such as insertion of a needle in a subcutaneously implanted intravenous port, venous blood sampling, venous cannulation, etc. Its use, however, may be limited by nasal discomfort in some patients for whom rectal and oral routes might be alternatives.


Assuntos
Ansiolíticos/administração & dosagem , Ansiedade/prevenção & controle , Midazolam/administração & dosagem , Neoplasias/psicologia , Administração Intranasal , Adolescente , Aerossóis , Cateterismo Venoso Central , Criança , Pré-Escolar , Sedação Consciente , Estudos Cross-Over , Método Duplo-Cego , Feminino , Humanos , Lactente , Masculino , Agulhas , Neoplasias/terapia , Dor/prevenção & controle
14.
Invest Ophthalmol Vis Sci ; 39(12): 2470-4, 1998 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-9804156

RESUMO

PURPOSE: To assess the clinical phenotype in a Swedish family with X-linked retinitis pigmentosa (XLRP) resulting from a novel splice defect in the RPGR gene. METHODS: RPGR mutation analysis was performed in one family with XLRP, and several individuals from the family were examined clinically. RESULTS: The causative mutation in the family was demonstrated to be a single base-pair change at the splice donor site in intron 7 that resulted in skipping of the complete exon 7 in the mature RPGR transcript. The aberrant mRNA is predicted to produce an RPGR protein with an in-frame deletion of 53 amino acids, corresponding to an RCC1-homology repeat. Clinical studies that included ophthalmological examination and full-field electroretinography showed that this splice mutation resulted in a comparatively less severe form of RP. CONCLUSIONS: Correlation of a causative RPGR genotype with clinical findings in hemizygotes and carrier heterozygotes is an important step toward predictive diagnosis and should assist in the development of gene-based therapies in the future.


Assuntos
Proteínas de Transporte/genética , Proteínas do Olho , Ligação Genética , Mutação Puntual , Splicing de RNA/genética , Retinose Pigmentar/genética , Cromossomo X/genética , Primers do DNA/química , Eletrorretinografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Retinose Pigmentar/patologia , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Análise de Sequência de DNA , Deleção de Sequência , Testes de Campo Visual , Campos Visuais
15.
Arch Ophthalmol ; 118(8): 1098-104, 2000 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-10922205

RESUMO

OBJECTIVE: To describe the clinical phenotype of juvenile X-linked retinoschisis in patients with different mutations in the XLRS1 gene. METHODS: Thirty patients with 7 different XLRS1 mutations were examined. The genotype was determined by molecular genetics, which identified 6 known and 1 novel mutation (exon 5, 489 G-->T). Ophthalmologic examination included full-field electroretinogram (ERG) recordings. RESULTS: The fundus appearance showed marked variations between, as well as within, families with different XLRS1 mutations. The ERG demonstrated typical reduction of B-wave amplitude, with relative A-wave preservation, causing a reduced B-A ratio in all affected males. The implicit time of the 30-Hz flicker ERG was prolonged in all patients examined. In a large family with a deletion of exon 1 and the promoter region, 12 affected males showed a phenotype ranging from moderate to severe vision impairment and a broad range of ERG abnormality, suggesting that additional factors may contribute to the disease severity. CONCLUSIONS: Juvenile retinoschisis shows a wide variability in the phenotype between, as well as within, families with different genotypes. The ERG findings show reduced B-A ratios of dark-adapted recordings and prolonged implicit times of 30-Hz flicker response, which provide a useful clinical marker to confirm the clinical diagnosis. CLINICAL RELEVANCE: This study describes the wide variability in the phenotype in patients with juvenile retinoschisis and different mutations in the XLRS1 gene. The study emphasizes the importance of complementing the ophthalmologic examination with full-field ERG and molecular genetics in boys with visual failure of unknown etiology to determine the diagnosis early in the course of the disease. Arch Ophthalmol. 2000;118:1098-1104


Assuntos
Proteínas do Olho/genética , Ligação Genética , Mutação , Degeneração Retiniana/genética , Cromossomo X , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Eletrorretinografia , Feminino , Fundo de Olho , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Retina/fisiopatologia , Degeneração Retiniana/fisiopatologia , Suécia
16.
J Appl Physiol (1985) ; 66(6): 2866-72, 1989 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-2745352

RESUMO

Changes in pulmonary microvascular permeability in sheep, after oleic acid injection, were studied using estimations of the osmotic reflection coefficient (sigma d) for total protein, albumin, immunoglobulins (Ig) G and M and calculation of the equivalent small and large pores of the microvessels. A chronic lung fistula was prepared in eight sheep. After a base-line period, left atrial pressure (Pla) was increased. Oleic acid (0.05 mg/kg body wt) was injected after a filtration-independent state had been obtained, and the spontaneously ventilating animals were then followed for 2 h. The sigma d for the normal lung was 0.65 +/- 0.03, 0.59 +/- 0.02, 0.72 +/- 0.04, and 0.84 +/- 0.02 for total protein, albumin, IgG, and IgM, respectively. The equivalent pore radii were 54 and 225 A. After oleic acid infusion, arterial pressure and arterial O2 tension decreased and leukocytes and platelets were consumed. At the end of the experiment, sigma d's were 0.27 +/- 0.04, 0.24 +/- 0.07, 0.33 +/- 0.06, and 0.55 +/- 0.04 for total protein, albumin, IgG, and IgM, respectively. The equivalent pore radii were 54 and 275 A, and the number of large pores was increased by 195%. The results indicate that oleic acid produces an increased vascular permeability by increasing the size and the numbers of large pores of the pulmonary microvascular walls.


Assuntos
Permeabilidade Capilar/efeitos dos fármacos , Pulmão/efeitos dos fármacos , Ácidos Oleicos/farmacologia , Animais , Feminino , Pulmão/irrigação sanguínea , Masculino , Ovinos
17.
J Appl Physiol (1985) ; 62(6): 2300-7, 1987 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-3610926

RESUMO

The effect of lung lymph fistula preparation on pulmonary microvascular permeability was investigated in sheep. Acutely prepared animals (n = 9) were compared with animals with a chronic lung lymph fistula (n = 5). The osmotic reflection coefficients (sigma) for total protein, albumin, immunoglobins (Ig) G and M, and the equivalent pore dimensions were calculated. Data were achieved at maximal possible lymph flows (QL) following elevation of left atrial pressure. In sheep with a chronic lung lymph fistula sigma's for total protein, albumin, IgG, and IgM at maximal lymph flows were 0.76 +/- 0.01, 0.65 +/- 0.09, 0.79 +/- 0.03, and 0.91 +/- 0.01, respectively. In the acutely prepared group the minimum lymph-to-plasma protein concentration for total protein was 0.39 +/- 0.06, corresponding to a sigma of 0.61 +/- 0.01. The sigma for albumin, IgG, and IgM were 0.48 +/- 0.04, 0.64 +/- 0.02, and 0.87 +/- 0.01, respectively. The equivalent pore radii in the chronic group were determined to be 54 and 190 A with 29% of the filtration accounted for by large pores. In the acute group the small pores were 56 A and the large pores 175 A with 53% of total volume flow at maximum lymph flows occurring through the large pores. Assuming a constant small-pore population the large pore number increased 4.5 times after surgery. For total protein, IgG, and IgM, sigma's in the acutely prepared group were significantly lower than in the control group. These results thus indicate that surgical preparation of a lung lymph fistula in sheep may cause acute increases in pulmonary microvascular permeability.


Assuntos
Linfa/fisiologia , Circulação Pulmonar , Animais , Fístula , Hemodinâmica , Matemática , Microcirculação , Ovinos
18.
J Appl Physiol (1985) ; 62(4): 1422-9, 1987 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-3298191

RESUMO

The changes in pulmonary microvascular permeability in sheep, after infusion of live Escherichia coli, were studied using estimations of the osmotic reflection coefficients (sigma) for total protein, albumin, immunoglobins (Ig) G and M and based on these estimations equivalent pore dimensions were calculated. A chronic lung lymph fistula was prepared in seven sheep. After a base-line period, left atrial pressure (Pla) was increased. E. coli (10(9) X kg body wt) were given after attaining filtration independent L/P values. The sigma's for the normal lung were calculated to 0.73 for total protein and to 0.65, 0.76, and 0.91 for albumin, IgG, and IgM, respectively. The equivalent pore radii were determined to 50 and 175 A with 35% of the filtration accounted for by the large pores. After bacterial infusion, the sigma's for total protein, albumin, IgG, and IgM decreased significantly from preseptic values to 0.58, 0.50, 0.64, and 0.83, respectively. After sepsis the small pores were 50 A and the large pores 200 A with 49% of total volume flow at maximum lymph flows occurring through the large pores. Assuming a constant small-pore population the large-pore number increased 32% after bacterial infusion. These results indicate that pulmonary microvascular permeability may have increased due to the sepsis.


Assuntos
Permeabilidade Capilar , Infecções por Escherichia coli/fisiopatologia , Circulação Pulmonar , Animais , Volume Sanguíneo , Hemodinâmica , Linfa/fisiologia , Modelos Biológicos , Osmose , Ovinos
19.
Ann Thorac Surg ; 56(6): 1515-7, 1993 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-8267479

RESUMO

Complement and fibrinolytic factors were measured in 9 infants undergoing hemofiltration immediately after cardiopulmonary bypass in an attempt to reduce activation of these systems. Plasma levels of C3a, C5a, and terminal complement complexes increased during bypass by 460%, 85%, and 745%. Plasma levels were reduced after hemofiltration in 8 of the 9 infants, and C3a and C5a fractions were recovered in the ultrafiltrate. The observed activation of the fibrinolytic system seemed to be unaltered by hemofiltration. Fibrinolytic factors were not filtered. Our study shows that increased concentrations of complement factors in the plasma after bypass in infants may be reduced by hemofiltration.


Assuntos
Ativação do Complemento/fisiologia , Circulação Extracorpórea , Cardiopatias Congênitas/cirurgia , Hemofiltração , Complemento C3a/metabolismo , Complemento C5a/metabolismo , Fibrinólise/fisiologia , Humanos , Lactente
20.
Am J Ophthalmol ; 125(2): 247-9, 1998 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-9467454

RESUMO

PURPOSE: To investigate the predictive value of the cone b-wave implicit time in the 30-Hz flicker electroretinogram for rubeosis in the acute phase of central retinal vein occlusion. METHODS: In a prospective study, 25 patients (25 eyes) with a central retinal vein occlusion of less than 14 days' duration were examined with electroretinography and followed up for a minimum of 18 months. RESULTS: The cone b-wave implicit time in the eyes that developed rubeosis (n = 11) was more than 37.1 milliseconds and in the eyes that did not develop rubeosis (n = 14), less than 37 milliseconds (P < .00001). CONCLUSION: The cone b-wave implicit time in the 30-Hz flicker electroretinogram is a good predictor of rubeosis at an early stage in eyes with central retinal vein occlusion.


Assuntos
Células Fotorreceptoras Retinianas Cones/fisiologia , Neovascularização Retiniana/diagnóstico , Oclusão da Veia Retiniana/complicações , Doença Aguda , Adaptação à Escuridão , Eletrorretinografia , Humanos , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Prospectivos , Neovascularização Retiniana/etiologia , Neovascularização Retiniana/fisiopatologia
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