RESUMEN
BACKGROUND: Degenerative aortic stenosis is the most common valvular heart disease in the elderly, and many patients are not suitable for aortic valve replacement surgery. Transcatheter aortic valve implantation (TAVI) is a new therapeutic option for selected patients at high risk for surgery. AIM: To evaluate the safety and efficacy of TAVI in Australian patients. METHODS: This is a prospective study of patients undergoing TAVI for severe symptomatic aortic stenosis at The Prince Charles Hospital, Brisbane, Australia between August 2008 and July 2013. Patients were at high risk of surgical aortic valve replacement, or inoperable, as deemed by a multidisciplinary 'heart team'. Outcomes include procedural success and complications, 30-day and 1-year mortality and stroke, combined end-points as outlined by the Valve Academic Research Consortium 2 consensus document. RESULTS: Two hundred and nine patients underwent TAVI during the study period. The mean age was 83.7 ± 6.7 years, and 101 (48%) were men. The valve systems utilised were as follows: Edwards-SAPIEN valve in 104 (49.5%), Medtronic CoreValve in 86 (41.2%) and Boston Scientific Lotus valve in 19 (9.3%) patients. Thirty-day and 1-year mortality rates were 5.7% and 11.5% respectively. Thirty-day and 1-year stroke rates were 4.3% and 6.2% respectively. The composite end-points of device success, early safety and clinical efficacy occurred in 80.4%, 27.3% and 68.4%. CONCLUSIONS: TAVI with various valve systems, delivered through several approaches, is feasible in high surgical risk and inoperable patients with severe aortic stenosis, with acceptable outcomes at short-term and intermediate-term follow up.
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Estenosis de la Válvula Aórtica/mortalidad , Estenosis de la Válvula Aórtica/cirugía , Reemplazo de la Válvula Aórtica Transcatéter/mortalidad , Reemplazo de la Válvula Aórtica Transcatéter/tendencias , Anciano , Anciano de 80 o más Años , Estenosis de la Válvula Aórtica/diagnóstico , Australia/epidemiología , Estudios de Cohortes , Femenino , Estudios de Seguimiento , Implantación de Prótesis de Válvulas Cardíacas/mortalidad , Implantación de Prótesis de Válvulas Cardíacas/tendencias , Humanos , Masculino , Mortalidad/tendencias , Selección de Paciente , Estudios Prospectivos , Factores de Riesgo , Resultado del TratamientoRESUMEN
BACKGROUND: The Strengths and Difficulties Questionnaire (SDQ) assesses behavioural adjustment in children aged 3 to 16 years. To ascertain the appropriateness of the scale for a specific population, it is important to examine whether the distinctiveness of the scale dimensions can be verified empirically. AIMS: Confirmatory factor analysis was used to test explicitly which of three models better explain our data, and whether model fit was improved by the addition of method factors. METHODS: Parents of 411 Singaporean kindergartners completed the SDQ. RESULTS: A four-factor multi-trait multi-method model (Prosocial, Conduct, Hyperactivity, Internalizing and two method factors) provided the best fit to the data. There was strong evidence for convergent and discriminant validity. However, differences in configural loading pattern indicated gender-related differences in the mapping of the SDQ items. DISCUSSION: Differences in factor structure across countries and gender may reflect differing conceptions of the underlying dimensions, as well as differences in normative expectations. However, our findings may allow its use as a screening tool to identify Singaporean children at risk of emotional and behavioural difficulties.
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Trastornos de la Conducta Infantil/psicología , Estrés Psicológico/epidemiología , Adaptación Psicológica , Adolescente , Niño , Trastornos de la Conducta Infantil/epidemiología , Preescolar , Análisis Discriminante , Análisis Factorial , Femenino , Humanos , Masculino , Padres , Psicometría , Reproducibilidad de los Resultados , Singapur/epidemiología , Encuestas y CuestionariosRESUMEN
OBJECTIVES: To estimate prevalence and assess factors associated with doctor shopping among caregivers of children acutely admitted to a hospital in Hong Kong, and examine the reasons for such behaviour and caregivers' awareness of its possible dangers. DESIGN: Cross-sectional study with face-to-face surveys. SETTING: A paediatric unit in a teaching hospital in Hong Kong. PARTICIPANTS: Caregivers of children admitted to acute paediatric wards between April and July 2011. MAIN OUTCOME MEASURES; Socio-demographic characteristics of the interviewee, personal history and clinical data of the patient, presence of doctor shopping (consulting more than one doctor for medical advice without referral) for each episode, the reasons behind such behaviour, and awareness of potential dangers. Data retrieved were analysed to estimate the prevalence and logistic regression was used to assess factors associated with doctor shopping. RESULTS: In all, 649 such patients were admitted into hospital during the study period, of which 336 were recruited, with about a half being absent or given home leave. Thirty-four patients were excluded due to absent caregivers or refusal, and 302 were included in the study. More than half (79.5%) were female and the caregivers' monthly household incomes were between HK$10 001 and HK$15 000 (21.2%), similar to the median household income in Hong Kong. The prevalence of doctor shopping was 53%. The only significant clinical parameter associated with doctor shopping was presence of fever (odds ratio=2.4; 95% confidence interval, 1.4-3.9). Persistence of symptoms was the commonest reason given by interviewees for doctor shopping, and the majority (75.5%) were unaware of the possible dangers of this behaviour. CONCLUSION: Doctor shopping is highly prevalent among caregivers of children with acute paediatric conditions. Most caregivers do not know the potential complications of this behaviour. Further measures should be taken to educate subjects on the associated dangers of this behaviour and the natural course of acute illnesses with fever.
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Actitud Frente a la Salud , Cuidadores/estadística & datos numéricos , Fiebre/terapia , Aceptación de la Atención de Salud/estadística & datos numéricos , Adolescente , Adulto , Cuidadores/psicología , Niño , Preescolar , Estudios Transversales , Recolección de Datos , Femenino , Fiebre/psicología , Hong Kong , Hospitales de Enseñanza , Humanos , Lactante , Modelos Logísticos , Masculino , Persona de Mediana Edad , Prevalencia , Adulto JovenRESUMEN
BACKGROUND: This study sought to describe the activities and participation of adolescents with autism spectrum disorders (ASD) in Singapore and to examine the suitability of the Activity and Participation component of the International Classification of Functioning, Disability and Health for achieving this purpose. This information may guide the development of intervention programmes for adolescents and adults as well as the provision of a means to document meaningful outcomes. METHODS: Parents of 20 adolescents with ASD attending special schools in Singapore were interviewed using the Vineland Adaptive Behavioural Scales - Second Edition and the Activities and Participation Rating Scale (APRS), which was developed for this study. RESULTS: The adolescents with ASD were rated to have more difficulties with participation than with the engagement of activities. Individual domain analyses indicate no difficulties with mobility and mild difficulties with self-care. The performance of general tasks and demands were rated as less problematic than domestic, major life areas, communication and interpersonal interactions. The adolescents with ASD were rated to have more difficulties in communication and community environments than in at home. In addition, analysis of associations between the APRS and Vineland Adaptive Behavioural Scales - Second Edition reveal a pattern of strong relationships between sub-tests. CONCLUSION: This study highlights the imperative for researchers and practitioners alike to develop a focus on strengths, generalisation and the quality of life of adolescents with ASD. The APRS also shows promise in helping document outcomes for adolescents with ASD in Asia and further development of this instrument is needed.
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Actividades Cotidianas , Conducta del Adolescente/psicología , Trastorno Autístico/rehabilitación , Evaluación de la Discapacidad , Clasificación Internacional de Enfermedades , Conducta Social , Adolescente , Comunicación , Femenino , Humanos , Relaciones Interpersonales , Masculino , Participación del Paciente/psicología , Psicometría , Calidad de Vida/psicología , SingapurRESUMEN
Crigler-Najjar syndrome type I is a severe form of hereditary unconjugated hyperbilirubinemia and is caused by homozygous or compound heterozygous mutations of the bilirubin UDP-glucuronosyltransferase gene (UGT1A1). We analyzed the bilirubin UDP-glucuronosyltransferase gene in a female Chinese patient with Crigler-Najjar syndrome type I. Relatives of the patient were also analyzed. The patient was homozygous for a nonsense mutation of R341X. The patient's father, sister and brother, all diagnosed with Gilbert's syndrome, were compound heterozygotes of R341X, P229Q, and an insertion mutation of the TATA box [A(TA)7TAA]. Heterozygotes of nonsense mutations (Q331X and C280X) in our previous study had either Crigler-Najjar syndrome type II or Gilbert's syndrome, but heterozygotes of R341X (mother and grandmothers) were normal. An in vitro expression study of homozygous and heterozygous models of R341X showed 0 and 58%, respectively, of normal enzyme activity. Therefore, the present results indicate that carriers of the nonsense mutation could be normal for plasma bilirubin concentration, Gilbert's syndrome and Crigler-Najjar syndrome type II. The results also suggest the importance of the accumulation of prevalent or polymorphic mutation in the etiology of Gilbert's syndrome and Crigler-Najjar syndrome type II.
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Síndrome de Crigler-Najjar/genética , Enfermedad de Gilbert/genética , Glucuronosiltransferasa/genética , Mutación , Adulto , Sustitución de Aminoácidos , Secuencia de Bases , Preescolar , China/etnología , Codón sin Sentido , Consanguinidad , Femenino , Técnicas de Transferencia de Gen , Vectores Genéticos , Humanos , Masculino , LinajeRESUMEN
GutR is a 95-kDa glucitol-dependent transcription activator that mediates the expression of the Bacillus subtilis glucitol operon. Glucitol allows GutR to bind tightly to its binding site located upstream of the gut promoter. In this study, a second functional role of glucitol is identified. Glucitol induces GutR to change its conformation and triggers GutR to bind ATP efficiently. After sequential binding of glucitol and ATP to GutR, GutR adopts a new conformation by forming a compact structure that is resistant to trypsin digestion. Under this condition, the ATP.glucitiol.GutR complex can dissociate slowly from the gutR-binding site (t(12) = 274 min). Interestingly, if ATP in the ATP.glucitiol.GutR complex is replaced by ADP, GutR adopts another conformation and can dissociate from the gutR-binding site even faster (t(12) = 82 min). In all these GutR-DNA binding studies in the presence of different ligands (glucitol, ATP, or ADP), only the off-rate is affected. The vital role of ATP in the GutR-mediated transcription activation process is reflected by the poor transcription from the gut promoter with GutR(D285A) which has a mutation in the motif B of the putative ATP-binding site. A working model for this transcription activation process is presented.
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Bacillus subtilis/genética , Bacillus subtilis/metabolismo , Proteínas Bacterianas , Proteínas de Unión al ADN/metabolismo , Sorbitol/farmacología , Transcripción Genética , Activación Transcripcional , Adenosina Trifosfato/metabolismo , Sitios de Unión , Western Blotting , Escherichia coli/metabolismo , Cinética , Ligandos , Modelos Biológicos , Mutagénesis Sitio-Dirigida , Mutación , Plásmidos/metabolismo , Regiones Promotoras Genéticas , Unión Proteica , Conformación Proteica , Estructura Terciaria de Proteína , Resonancia por Plasmón de Superficie , Factores de Tiempo , Tripsina/farmacología , Rayos UltravioletaRESUMEN
Glucitol induction in Bacillus subtilis requires a transcription activator, GutR, and a sequence located upstream of the gut promoter. To understand the initial steps involved in the GutR-mediated transcription activation process and the physiological roles of glucitol, GutR was overproduced and purified. In the absence of glucitol, GutR exists as a monomer and binds directly to its binding site in the gut regulatory region. This binding site was mapped to a 29-base pair imperfect inverted repeat located between -78 and -50, and there is only one GutR binding site within the regulatory region. The kinetic parameters of the interaction between GutR and its binding site were monitored in real time using surface plasmon resonance. The half-life of the GutR-DNA complex in the absence of glucitol was estimated to be 6.8 min. In contrast, in the presence of glucitol, the half-life of the complex was extended to longer than 19 h by affecting only the off-rate but not the on-rate. This effect is glucitol-specific. These data indicate that glucitol binds to GutR and induces GutR to have an extremely tight binding at its binding site. The physiological relevance of this process in transcription activation is discussed.
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Bacillus subtilis/metabolismo , Proteínas Bacterianas , Proteínas de Unión al ADN/metabolismo , Indicadores y Reactivos/metabolismo , Sorbitol/metabolismo , Activación Transcripcional , Secuencia de Bases , Sitios de Unión , Técnicas Biosensibles , Biotinilación , Western Blotting , Clonación Molecular , ADN/metabolismo , Proteínas de Unión al ADN/genética , Proteínas de Unión al ADN/aislamiento & purificación , Diuréticos Osmóticos/metabolismo , Relación Dosis-Respuesta a Droga , Electroforesis en Gel de Poliacrilamida , Eliminación de Gen , Vectores Genéticos , Concentración de Iones de Hidrógeno , Cinética , Modelos Genéticos , Datos de Secuencia Molecular , Reacción en Cadena de la Polimerasa , Regiones Promotoras Genéticas , Unión Proteica , Estreptavidina/metabolismo , Resonancia por Plasmón de Superficie , Factores de TiempoRESUMEN
The rectal "inflammatory cloacogenic polyp" is a recognized pathologic entity in adulthood. We report three cases in children aged between 8 and 12 years. This disorder should be included in the differential diagnosis in patients with hematochezia and tenesmus. These polyps are usually located at the anorectal junction and so may be overlooked at colonoscopy unless an endoscopic retroflexion maneuver is performed.