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1.
Br Med Bull ; 126(1): 85-100, 2018 06 01.
Artículo en Inglés | MEDLINE | ID: mdl-29659715

RESUMEN

Introduction: The cost of treatment and follow-up of cancer patients in the UK is substantial. In a budget-constrained system such as the NHS, it is necessary to consider the cost-effectiveness of the range of management strategies at different points on cancer patients' care pathways to ensure that they provide adequate value for money. Sources of data: We conducted a systematic literature review to explore the cost-effectiveness of follow-up strategies of patients previously treated for cancer with the aim of informing UK policy. All papers that were considered to be economic evaluations in the subject areas described above were extracted. Areas of agreement: The existing literature suggests that intensive follow-up of patients with colorectal disease is likely to be cost-effective, but the opposite holds for breast cancer. Areas of controversy: Interventions and strategies for follow-up in cancer patients were variable across type of cancer and setting. Drawing general conclusions about the cost-effectiveness of these interventions/strategies is difficult. Growing points: The search identified 2036 references but applying inclusion/exclusion criteria a total of 44 articles were included in the analysis. Breast cancer was the most common (n = 11) cancer type followed by colorectal (n = 10) cancer. In general, there were relatively few studies of cost-effectiveness of follow-up that could influence UK guidance. Where there was evidence, in the most part, NICE guidance broadly reflected this evidence. Areas timely to develop research: In terms of future research around the timing, frequency and composition of follow-ups, this is dependent on the type of cancer being considered. Nevertheless, across most cancers, the possibility of remote follow-up (or testing) by health professionals other than hospital consultants in other settings appears to warrant further work.


Asunto(s)
Continuidad de la Atención al Paciente , Neoplasias/rehabilitación , Medicina Estatal , Continuidad de la Atención al Paciente/economía , Continuidad de la Atención al Paciente/normas , Análisis Costo-Beneficio , Estudios de Seguimiento , Humanos , Alta del Paciente , Reino Unido
2.
Epidemiol Infect ; 146(9): 1177-1183, 2018 07.
Artículo en Inglés | MEDLINE | ID: mdl-29708089

RESUMEN

Following a cluster of serious pseudomonas skin infections linked to a body piercing and tattooing premises, a look-back exercise was carried out to offer clients a screen for blood-borne viruses. Of those attending for screening 72% (581/809) had a piercing procedure in the premises of interest: 94 (16%) were under 16 years of age at the time of screening. The most common site of piercing was ear (34%), followed by nose (27%), nipple (21%) and navel (21%). A small number (<5) tested positive for hepatitis B and C, with no evidence this was linked to the premises. However, 36% (211/581) of clients reported a skin infection associated with their piercing. Using data from client forms, 36% provided a false age. Those aged under 16 years (OR 4.5, 95% CI 2.7-7.7) and those receiving a piercing at an intimate site (OR 2.1, 95% CI 1.3-3.6) were more likely to provide a false age. The findings from this exercise were used to support the drafting of the Public Health (Wales) Bill which proposed better regulation of piercing premises and the need to provide proof of being 18 years of age or over before having a piercing of an intimate site.


Asunto(s)
Perforación del Cuerpo/efectos adversos , Higiene/normas , Infecciones por Pseudomonas/etiología , Pseudomonas aeruginosa , Salud Pública/normas , Enfermedades Cutáneas Bacterianas/etiología , Adolescente , Adulto , Factores de Edad , Femenino , Humanos , Higiene/legislación & jurisprudencia , Incidencia , Consentimiento Informado , Masculino , Evaluación de Necesidades , Infecciones por Pseudomonas/epidemiología , Infecciones por Pseudomonas/prevención & control , Salud Pública/legislación & jurisprudencia , Medición de Riesgo , Factores de Riesgo , Enfermedades Cutáneas Bacterianas/epidemiología , Enfermedades Cutáneas Bacterianas/prevención & control , Tatuaje/efectos adversos , Gales/epidemiología , Adulto Joven
3.
Environ Geochem Health ; 39(4): 759-777, 2017 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-27352294

RESUMEN

Elemental concentrations and bioaccessibility were determined in background soils collected in Canada as part of the North American Geochemical Landscapes Project. The concentrations of As, Cr, Cu, Co, Ni and Zn were higher in the C-horizon (parent material) compared to 0-5 cm (surface soil), and this observation along with the regional distribution suggested that most of the variability in concentrations of these elements were governed by the bedrock characteristics. Unlike the above-stated elements, Pb and Cd concentrations were higher in the surface layer reflecting the potential effects of anthropogenic deposition. Elemental bioaccessibility was variable decreasing in the order Cd > Pb > Cu > Zn > Ni > Co > As > Cr for the surface soils. With the exception of As, bioaccessibility was generally higher in the C-horizon soils compared to the 0-5 cm soils. The differences in metal bioaccessibility between the 0-5 cm and the C-horizon and among the provinces may reflect geological processes and speciation. The mean, median or 95th percentile bioaccessibility for As, Cr, Cu, Co, Ni and Pb were all below 100 %, suggesting that the use of site-specific bioaccessibility results for these elements will yield more accurate estimation of the risk associated with oral bioavailability for sites where soil ingestion is the major contributor of human health risk.


Asunto(s)
Metales Pesados/análisis , Suelo/química , Disponibilidad Biológica , Canadá , Elementos Químicos , Monitoreo del Ambiente , Humanos , Metales Pesados/farmacocinética
4.
BJOG ; 123(13): 2094-2103, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-26996156

RESUMEN

OBJECTIVE: To assess offspring attention-deficit hyperactivity disorder (ADHD) symptoms and emotional/behavioural impairments at age 10 years in relation to maternal gestational weight gain (GWG) and prepregnancy body mass index (BMI). DESIGN AND SETTING: Longitudinal birth cohort from Magee-Womens Hospital, Pittsburgh, Pennsylvania (enrolled 1983-86). POPULATION: Mother-infant dyads (n = 511) were followed through pregnancy to 10 years. METHODS: Self-reported total GWG was converted to gestational-age-standardised z-scores. Multivariable linear and negative binomial regressions were used to estimate effects of GWG and BMI on outcomes. MAIN OUTCOME MEASURES: Child ADHD symptoms were assessed with the Conners' Continuous Performance Test. Child behaviour was assessed by parent and teacher ratings on the Child Behaviour Checklist (CBCL) and Teacher Report Form, respectively. RESULTS: The mean (SD) total GWG (kg) was 14.5 (5.9), and 10% of women had a pregravid BMI ≥30 kg/m2 . Prepregnancy obesity (BMI of 30 kg/m2 ) was associated with increased offspring problem behaviours including internalising behaviours (adjusted ß 3.3 points, 95% CI 1.7-4.9), externalising behaviours (adjusted ß 2.9 points, 95% CI 1.4-4.6), and attention problems (adjusted ß 2.3 points, 95% CI 1.1-3.4) on the CBCL, compared with normal weight mothers (BMI of 22 kg/m2 ). There were nonsignificant trends towards increased offspring impulsivity with low GWG among lean mothers (adjusted incidence rate ratio 1.2, 95% CI 0.9-1.5) and high GWG among overweight mothers (adjusted incidence rate ratio 1.7, 95% CI 0.9-2.8), but additional outcomes did not differ by GWG z-score. Results were not meaningfully different after excluding high-substance users. CONCLUSIONS: In a low-income and high-risk sample, we observed a small increase in child behaviour problems among children of obese mothers, which could have an impact on child behaviour in the population. TWEETABLE ABSTRACT: Maternal obesity is associated with a small increase in child behaviour problems.


Asunto(s)
Índice de Masa Corporal , Aumento de Peso , Atención , Estudios de Cohortes , Edad Gestacional , Humanos , Obesidad/epidemiología , Sobrepeso/epidemiología
5.
Psychol Med ; 45(8): 1779-87, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25534593

RESUMEN

BACKGROUND: Studies have demonstrated that an early age of onset of marijuana use (EAOM) is associated with a higher risk of developing psychotic symptoms (PS) compared to initiating marijuana use at a later age or not at all. Research has also found that prenatal marijuana exposure (PME) predicts EAOM. This report evaluates the relationships among PME, EAOM, and PS. METHOD: Subjects were initially interviewed in their fourth prenatal month. Women and offspring who completed the birth assessment (n = 763) were selected for follow-up. Women and their offspring were followed until the offspring were 22 years of age: 596 offspring were evaluated. At age 22, PS were assessed in the offspring with the Diagnostic Interview Schedule using DSM-IV criteria. Analyses controlled for significant covariates including other prenatal substance exposures, race, gender, and offspring substance use at 22 years. RESULTS: PME and EAOM significantly predicted increased rates of PS at 22 years controlling for other significant covariates. The direct effect of PME on PS was marginally significant (p = 0.06) when EAOM was entered into the model and other covariates were fixed. In the mediation analysis, EAOM did not significantly mediate the association between PME and PS, controlling for significant covariates, nor was the indirect pathway significant when structural equation modeling was used. The total effect of the direct and indirect pathways was significant. CONCLUSIONS: In addition to EAOM, PME may also play a role in the association between marijuana use and the development of PS. This could highlight a new area for prevention.


Asunto(s)
Fumar Marihuana/epidemiología , Efectos Tardíos de la Exposición Prenatal/epidemiología , Trastornos Psicóticos/epidemiología , Adolescente , Adulto , Comorbilidad , Femenino , Estudios de Seguimiento , Humanos , Masculino , Embarazo , Estados Unidos/epidemiología , Adulto Joven
6.
Intern Med J ; 45(3): 267-74, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25403925

RESUMEN

BACKGROUND: Prior studies have suggested improved outcomes for cancer patients managed in private centres, despite universal healthcare within Australia. AIMS: To compare patient, disease, treatment and survival data for metastatic colorectal cancer (mCRC) managed in private versus public centres. METHODS: Analysis of prospectively collected registry data for consecutive patients with mCRC managed at 16 participating centres from July 2009. RESULTS: Data for 1065 patients were examined. Age, gender and Charlson comorbidity score were similar for public and private patients. Private patients were more commonly Eastern Cooperative Oncology Group performance score 0-1 (85% vs 78%, P = 0.008), in the highest Index of Relative Socioeconomic Advantage and Disadvantage quintile (57% vs 18%, P < 0.001) or had a single metastatic site (62% vs 54%, P = 0.009). Patients treated in private were more likely to receive chemotherapy (84% vs 70%, P < 0.001), bevacizumab (59% vs 50%, P = 0.008), be treated with curative intent (37% vs 26%, P < 0.001) and undergo metastasectomy (30% vs 22%, P = 0.001). These management differences remained statistically significant after adjusting for baseline characteristics. Management in the private setting was associated with superior overall survival (median 27.9 vs 20 months, hazard ratio 0.7, 95% confidence interval: 0.57 to 0.86, P = 0.001), significant in multivariate analysis adjusting for all baseline covariates. CONCLUSIONS: Significant differences in baseline characteristics were noted for private versus public patients. However, these do not explain the higher rates of treatment delivery in the private setting, which likely contributed towards the observed survival difference. Further studies are required to determine if the increased likelihood of intervention in the private setting is driven by patient, clinician and/or institutional factors.


Asunto(s)
Neoplasias Colorrectales/mortalidad , Neoplasias Colorrectales/terapia , Práctica Privada/normas , Cobertura Universal del Seguro de Salud/normas , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Australia/epidemiología , Neoplasias Colorrectales/economía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Práctica Privada/economía , Estudios Prospectivos , Sistema de Registros , Tasa de Supervivencia/tendencias , Resultado del Tratamiento , Cobertura Universal del Seguro de Salud/economía , Adulto Joven
7.
J Zoo Wildl Med ; 46(2): 427-30, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-26056911

RESUMEN

A 10-yr-old female okapi (Okapia johnstoni) at the San Diego Zoo Safari Park was evaluated for intermittent malaise, inappetence, occasional cough, abdominal splinting, and licking at both flanks. Physical examination revealed tachypnea, tachycardia, and fluid sounds on thoracic auscultation. Transthoracic ultrasound showed multiple uniform, anechoic filled structures in the right and left pleural space. Surgical exploration of the thoracic cavity revealed bilateral, mature, fibrous, compartmentalizing adhesions between the visceral and parietal pleura, confirming a diagnosis of chronic, infectious, fibrinous pleuritis. The suspected etiology was occult aspiration pneumonia secondary to historical episodes of regurgitation associated with general anesthesia. Culture of the pleural fluid and fibrous adhesions grew Trueperella (Arcanobacterium) pyogenes, Arcanobacterium haemolyticum, and few Fusobacterium species. Treatment consisted of chest-tube placement to establish drainage, thoracic lavage, unilateral surgical debridement, and long-term antibiotics. The animal made a complete clinical recovery over 7 mo.


Asunto(s)
Infecciones por Actinomycetales/veterinaria , Actinomycetales/aislamiento & purificación , Antílopes , Antibacterianos/uso terapéutico , Pleuresia/veterinaria , Infecciones por Actinomycetales/tratamiento farmacológico , Infecciones por Actinomycetales/terapia , Amicacina/uso terapéutico , Animales , Cefalosporinas/uso terapéutico , Enfermedad Crónica , Femenino , Penicilina G/uso terapéutico , Pleuresia/microbiología , Pleuresia/patología , Pleuresia/terapia , Irrigación Terapéutica/veterinaria
8.
Psychol Med ; 44(7): 1451-60, 2014 May.
Artículo en Inglés | MEDLINE | ID: mdl-23962484

RESUMEN

BACKGROUND: Co-morbid major depression occurs in approximately 10% of people suffering from a chronic medical condition such as cancer. Systematic integrated management that includes both identification and treatment has been advocated. However, we lack information on the cost-effectiveness of this combined approach, as published evaluations have focused solely on the systematic (collaborative care) treatment stage. We therefore aimed to use the best available evidence to estimate the cost-effectiveness of systematic integrated management (both identification and treatment) compared with usual practice, for patients attending specialist cancer clinics. METHOD: We conducted a cost-effectiveness analysis using a decision analytic model structured to reflect both the identification and treatment processes. Evidence was taken from reviews of relevant clinical trials and from observational studies, together with data from a large depression screening service. Sensitivity and scenario analyses were undertaken to determine the effects of variations in depression incidence rates, time horizons and patient characteristics. RESULTS: Systematic integrated depression management generated more costs than usual practice, but also more quality-adjusted life years (QALYs). The incremental cost-effectiveness ratio (ICER) was £11,765 per QALY. This finding was robust to tests of uncertainty and variation in key model parameters. CONCLUSIONS: Systematic integrated management of co-morbid major depression in cancer patients is likely to be cost-effective at widely accepted threshold values and may be a better way of generating QALYs for cancer patients than some existing medical and surgical treatments. It could usefully be applied to other chronic medical conditions.


Asunto(s)
Enfermedad Crónica/psicología , Análisis Costo-Beneficio , Prestación Integrada de Atención de Salud/economía , Trastorno Depresivo Mayor/economía , Modelos Económicos , Neoplasias/psicología , Enfermedad Crónica/economía , Enfermedad Crónica/epidemiología , Comorbilidad , Trastorno Depresivo Mayor/diagnóstico , Trastorno Depresivo Mayor/epidemiología , Trastorno Depresivo Mayor/terapia , Humanos , Neoplasias/economía , Neoplasias/epidemiología , Años de Vida Ajustados por Calidad de Vida
9.
Catheter Cardiovasc Interv ; 84(3): E18-20, 2014 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-24375849

RESUMEN

A 66-year old man presented with antero-lateral STEMI. An ulcerated plaque and thrombus were seen in the proximal LAD. We were unable to pass a thrombectomy catheter down the LAD. To avoid embolisation of debris a Spider FX distal protection device was placed into the circumflex artery. Following stent implantation the patient developed chest pain with inferolateral ST depression. Thrombus was extracted from the circumflex artery within the distal protection device. Noninfract related artery distal protection during primary PCI may be an appropriate safeguard where thrombectomy is not possible in an infarct-related left coronary branch.


Asunto(s)
Trombosis Coronaria/prevención & control , Dispositivos de Protección Embólica , Complicaciones Intraoperatorias/prevención & control , Infarto del Miocardio/cirugía , Intervención Coronaria Percutánea/métodos , Anciano , Angiografía Coronaria , Trombosis Coronaria/cirugía , Electrocardiografía , Estudios de Seguimiento , Humanos , Masculino , Infarto del Miocardio/diagnóstico , Trombectomía
10.
Colorectal Dis ; 15(10): e618-22, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23937552

RESUMEN

AIM: Single incision laparoscopic surgery (SILS) is specially suited for surgery of the right colon. This study presents the results of a historical controlled trial comparing single incision and multiport laparoscopic surgery (MLS) for right hemicolectomy. METHOD: A review of outcome data from 149 patients who underwent laparoscopic right hemicolectomy was performed from the Concord Hospital laparoscopic colorectal database. RESULTS: Between July 2006 and December 2011, 149 consecutive laparoscopic right hemicolectomies were performed. The first 74 were performed by MLS and from February 2009 all cases were performed by SILS (n = 75).The median ages in the MLS and SILS groups were 74 and 68 years. The median body mass index was 27 kg/m(2) in both groups. Patients were hospitalized for a median of 8 days in the MLS group compared with 5 days in the SILS group. The median length of the extraction wound was 50 mm in the MLS group compared with 43 mm in the SILS group. The indications for surgery were similar in both groups, being 67% and 68%. One patient in each group required conversion to open laparotomy, and no patient in the SILS group required conversion to a conventional multiport technique. Postoperative morbidity was similar in both groups. CONCLUSION: SILS offers a safe minimally invasive approach to right colon resection. In our series SILS patients had a shorter extraction wound size and shorter length of stay in hospital.


Asunto(s)
Colectomía/métodos , Colon Ascendente/cirugía , Laparoscopía/métodos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Colectomía/efectos adversos , Enfermedades del Colon/cirugía , Femenino , Humanos , Laparoscopía/efectos adversos , Tiempo de Internación , Masculino , Persona de Mediana Edad , Adulto Joven
11.
Colorectal Dis ; 15(8): e483-7, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23627871

RESUMEN

AIM: Laparoscopic colorectal surgery requires supervised training. In this paper we examine the short-term outcome following a component-based training in laparoscopic colorectal surgery. METHOD: Surgical outcome following laparoscopic colorectal resection was recorded on a prospective database. Patients were divided into three groups, including those performed by the fellows, those completed by the consultant and those completed by a combination of both. Analysis of data was carried out for all colorectal resections and the subgroup with colorectal cancer. RESULTS: 511 operations were examined between June 2006 and January 2011. There was no statistically significant difference in operating time between fellows and consultants but it was significantly longer for procedures where consultants and fellows performed components. Conversion rate, postoperative morbidity, recovery and length of stay were similar for all three groups for the whole patient cohort and also the subgroup of cancer patients. In the cancer subgroup, there was no difference in the pathological stage in the three groups. CONCLUSION: Closely supervised training in laparoscopic colorectal surgery is not associated with any adverse effect on the short-term outcome.


Asunto(s)
Neoplasias Colorrectales/cirugía , Cirugía Colorrectal/educación , Procedimientos Quirúrgicos del Sistema Digestivo/educación , Laparoscopía/educación , Anciano , Análisis de Varianza , Procedimientos Quirúrgicos del Sistema Digestivo/métodos , Estudios de Factibilidad , Femenino , Humanos , Tiempo de Internación , Masculino , Persona de Mediana Edad , Tempo Operativo , Complicaciones Posoperatorias , Resultado del Tratamiento
12.
Br J Biomed Sci ; 70(2): 67-74, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23888608

RESUMEN

The QBC Star haematology system includes the QBC Star centrifugal analytical analyser and the QBC Star tube system. Together, they are capable of producing a haematology profile on venous or capillary whole blood. The aim of this study is to compare full blood count (FBC) including differential white cell count performance between the QBC Star analyser and a gold standard Sysmex XE-2100 haematology analyser. The FBC performance was evaluated according to the National Committee for Clinical Laboratory Standards (NCCLS) document H20-A. Imprecision, correlation and linearity studies all showed excellent results. Overall, the haemoglobin, haematocrit, white cell count (WCC) and platelet count parameters showed excellent correlation. Mean corpuscular haemoglobin concentration (MCHC) results showed poor comparability. The white cell differential parameters showed good correlation within certain clinically significant limits. Imprecision for haemoglobin, haematocrit, WCC, MCHC and platelet count was considered acceptable. The re-read function was found to be stable over the five-hour testing period under the authors' laboratory environmental conditions. The subjective assessment by biomedical scientist staff demonstrated that the system was user friendly, required little maintenance, and no user calibration was required. Staff considered the user manual to be excellent. Overall, the QBC Star appears to be an excellent point-of-care (POC) dry haematology analyser that delivers clinically significant nine-parameter complete blood count and will make a good POC analyser for use in field hospitals, research, screening programmes, GP surgeries as well as in emergency and intensive care units. It is a health and safety-friendly analyser considering the fact that it uses dry haematology reagents instead of the bulky wet reagents that are often associated with liquid biohazard waste.


Asunto(s)
Recuento de Células Sanguíneas/instrumentación , Hematología/instrumentación , Sistemas de Atención de Punto , Recuento de Células Sanguíneas/normas , Calibración , Diseño de Equipo , Índices de Eritrocitos , Hematócrito/instrumentación , Hematócrito/normas , Hemoglobinas , Humanos , Recuento de Plaquetas/instrumentación , Recuento de Plaquetas/normas , Reproducibilidad de los Resultados
13.
Nat Genet ; 20(2): 194-7, 1998 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-9771715

RESUMEN

Nonsyndromic hearing impairment is one of the most heterogeneous hereditary conditions, with more than 40 loci mapped on the human genome, however, only a limited number of genes implicated in hearing loss have been identified. We previously reported linkage to chromosome 7p15 for autosomal dominant hearing impairment segregating in an extended Dutch family (DFNA5). Here, we report a further refinement of the DFNA5 candidate region and the isolation of a gene from this region that is expressed in the cochlea. In intron 7 of this gene, we identified an insertion/deletion mutation that does not affect intron-exon boundaries, but deletes five G-triplets at the 3' end of the intron. The mutation co-segregated with deafness in the family and causes skipping of exon 8, resulting in premature termination of the open reading frame. As no physiological function could be assigned, the gene was designated DFNA5.


Asunto(s)
Proteínas Portadoras/genética , Pérdida Auditiva de Alta Frecuencia/genética , Mutación , Adolescente , Secuencia de Aminoácidos , Animales , Niño , Preescolar , Mapeo Cromosómico , Femenino , Ligamiento Genético , Pérdida Auditiva de Alta Frecuencia/fisiopatología , Humanos , Masculino , Ratones , Datos de Secuencia Molecular , Sistemas de Lectura Abierta , Linaje , Presbiacusia/genética , Presbiacusia/fisiopatología , Receptores de Estrógenos/química , Receptores de Estrógenos/genética , Alineación de Secuencia
14.
Nat Genet ; 19(1): 60-2, 1998 May.
Artículo en Inglés | MEDLINE | ID: mdl-9590290

RESUMEN

The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major non-collagenous components of the tectorial membrane. Recently, the gene encoding mouse alpha-tectorin (Tecta) was mapped to a region of mouse chromosome 9, which shows evolutionary conservation with human chromosome 11q (ref. 3), where linkage was found in two families, one Belgian (DFNA12; ref. 4) and the other, Austrian (DFNA8; unpublished data), with autosomal dominant non-syndromic hearing impairment. We determined the complete sequence and the intron-exon structure of the human TECTA gene. In both families, mutation analysis revealed missense mutations which replace conserved amino-acid residues within the zona pellucida domain of TECTA. These findings indicate that mutations in TECTA are responsible for hearing impairment in these families, and implicate a new type of protein in the pathogenesis of hearing impairment.


Asunto(s)
Sordera/genética , Proteínas de la Matriz Extracelular/genética , Genes Dominantes , Glicoproteínas de Membrana/genética , Mutación , Empalme Alternativo , Secuencia de Aminoácidos , Animales , Secuencia de Bases , Cósmidos , ADN Complementario , Exones , Proteínas Ligadas a GPI , Humanos , Intrones , Ratones , Datos de Secuencia Molecular , Reacción en Cadena de la Polimerasa , Homología de Secuencia de Aminoácido
15.
IEEE Trans Vis Comput Graph ; 29(1): 1113-1123, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36155463

RESUMEN

Conducting data analysis tasks rarely occur in isolation. Especially in intelligence analysis scenarios where different experts contribute knowledge to a shared understanding, members must communicate how insights develop to establish common ground among collaborators. The use of provenance to communicate analytic sensemaking carries promise by describing the interactions and summarizing the steps taken to reach insights. Yet, no universal guidelines exist for communicating provenance in different settings. Our work focuses on the presentation of provenance information and the resulting conclusions reached and strategies used by new analysts. In an open-ended, 30-minute, textual exploration scenario, we qualitatively compare how adding different types of provenance information (specifically data coverage and interaction history) affects analysts' confidence in conclusions developed, propensity to repeat work, filtering of data, identification of relevant information, and typical investigation strategies. We see that data coverage (i.e., what was interacted with) provides provenance information without limiting individual investigation freedom. On the other hand, while interaction history (i.e., when something was interacted with) does not significantly encourage more mimicry, it does take more time to comfortably understand, as represented by less confident conclusions and less relevant information-gathering behaviors. Our results contribute empirical data towards understanding how provenance summarizations can influence analysis behaviors.

16.
Epidemiol Infect ; 140(7): 1252-66, 2012 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-22040368

RESUMEN

Introduction of pneumococcal polysaccharide (PPV23) and conjugate vaccine (PCV7) programmes were expected to change the epidemiology of invasive pneumococcal disease (IPD) and pneumonia in the UK. We describe the epidemiology of IPD and hospitalization with pneumonia using high-quality surveillance data over an 8-year period, 2002-2009. Although PPV23 uptake increased from 49% to 70% and PCV7 uptake reached 98% by 2009, the overall incidence of IPD increased from 11.8/100 000 to 16.4/100 000 (P=0.13), and the incidence of hospitalization with pneumonia increased from 143/100 000 to 207/100 000 (P<0.001). Although a reduction in the proportion of IPD caused by PCV7 serotypes was observed, concurrent increases in PPV23 and non-vaccine serotype IPD contributed to an increased IPD burden overall. Marked inequalities in the geographical distribution of disease were observed. Existing vaccination programmes have, so far, not been sufficient to address an increasing burden of pneumococcal disease in our locality.


Asunto(s)
Infecciones Neumocócicas/epidemiología , Infecciones Neumocócicas/prevención & control , Vacunas Neumococicas/administración & dosificación , Vacunas Neumococicas/inmunología , Vacunación/estadística & datos numéricos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Femenino , Vacuna Neumocócica Conjugada Heptavalente , Hospitalización/estadística & datos numéricos , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Topografía Médica , Reino Unido/epidemiología , Adulto Joven
19.
Psychol Med ; 41(1): 119-28, 2011 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-20346192

RESUMEN

BACKGROUND: Mental capacity is an emerging ethical legal concept in psychiatric settings but its relation to clinical parameters remains uncertain. We sought to investigate the associations of regaining capacity to make treatment decisions following approximately 1 month of in-patient psychiatric treatment. METHOD: We followed up 115 consecutive patients admitted to a psychiatric hospital who were judged to lack capacity to make treatment decisions at the point of hospitalization. We were primarily interested in whether the diagnosis of schizophrenia and schizoaffective disorder associated with reduced chances of regaining capacity compared with other diagnoses and whether affective symptoms on admission associated with increased chances of regaining capacity. In addition, we examined how change in insight was associated with regaining capacity in schizophrenia, bipolar affective disorder (BPAD)-mania, and depression. RESULTS: We found evidence that the category of 'schizophrenia or schizoaffective disorder' associated with not regaining capacity at 1 month compared with BPAD-mania [odds ratio (OR) 3.62, 95% confidence intervals (CI) 1.13-11.6] and depression (OR 5.35, 95% CI 1.47-9.55) and that affective symptoms on admission associated with regaining capacity (OR 1.23, 95% CI 1.02-1.48). In addition, using an interaction model, we found some evidence that gain in insight may not be a good indicator of regaining capacity in patients with depression compared with patients with schizophrenia and BPAD-mania. CONCLUSIONS: We suggest that clinico-ethical studies using mental capacity provide a way of assessing the validity of nosological and other clinical concepts in psychiatry.


Asunto(s)
Pacientes Internos/psicología , Competencia Mental/psicología , Trastornos Mentales/psicología , Adulto , Trastorno Bipolar/psicología , Trastorno Bipolar/terapia , Intervalos de Confianza , Trastorno Depresivo Mayor/psicología , Trastorno Depresivo Mayor/terapia , Femenino , Humanos , Modelos Logísticos , Masculino , Trastornos Mentales/terapia , Oportunidad Relativa , Servicio de Psiquiatría en Hospital/estadística & datos numéricos , Escalas de Valoración Psiquiátrica , Trastornos Psicóticos/psicología , Trastornos Psicóticos/terapia , Inducción de Remisión , Esquizofrenia/terapia , Psicología del Esquizofrénico , Factores de Tiempo
20.
J Neurosurg Sci ; 55(2): 85-8, 2011 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-21623319

RESUMEN

AIM: A variety of magnetic resonance imaging (MRI)-compatible skin-marker localization devices are available on the market. MRI protocols call for the liberal use of the skin markers over the specific site of symptoms or over any palpable mass. This study investigates the usefulness of patient-assisted placement of 1 000-mg fish oil capsules as skin markers over the area of maximum localized pain, signs, or symptoms and correlates this placement with any potential underlying neuropathology or potential pain generator. METHODS: One-hundred symptomatic patients undergoing MRI were assessed for focal or localized signs or symptoms. Under the direction of a physician and with guidance from the patient, the MRI technician placed a 1 000-mg fish-oil capsule over the area of maximum pain or signs and symptoms. Patients with poorly localized, diffuse symptoms or an area of maximal signs and symptoms outside the field of view of the MRI were not included in this study. All MRI exams were reviewed by clinical physicians and radiologists or neuroimaging physicians. RESULTS: In all 100 cases, the images show clearly visible MRI-compatible skin-surface markers that correlate with potential underlying neuropathology. CONCLUSION: Our results show that 1 000-mg fish-oil capsules can be used as MRI localization devices as a cost-effective alternative to more expensive commercially available devices.


Asunto(s)
Aceites de Pescado , Imagen por Resonancia Magnética/métodos , Neurocirugia , Cuidados Preoperatorios/métodos , Enfermedades de la Columna Vertebral/patología , Antropometría/instrumentación , Antropometría/métodos , Dolor de Espalda/patología , Dolor de Espalda/cirugía , Cápsulas , Humanos , Piel , Enfermedades de la Columna Vertebral/cirugía
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