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1.
J Intellect Disabil Res ; 67(4): 375-386, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36744441

RESUMEN

BACKGROUND: It appears that students with intellectual disability (ID) are more frequently absent from school compared with students without ID. The objective of the current study was to estimate the frequency of absence among students with ID and the reasons for absence. Potential reasons included the attendance problems referred to as school refusal, where absence is related to emotional distress; truancy, where absence is concealed from parents; school exclusion, where absence is instigated by the school; and school withdrawal, where absence is initiated by parents. METHODS: Study participants were 629 parents (84.6% mothers) of Australian school students (Mage  = 11.18 years; 1.8% Aboriginal and/or Torres Strait Islander) with an ID. Participants completed a questionnaire battery that included the School Non-Attendance ChecKlist via which parents indicated the reason their child was absent for each day or half-day absence their child had over the past 20 school days. The absence data presented to parents had been retrieved from school records. RESULTS: Across all students, absence occurred on 7.9% of the past 20 school days. In terms of school attendance problems as defined in existing literature, school withdrawal accounted for 11.1% of absences and school refusal for 5.3% of absences. Students were also absent for other reasons, most commonly illness (32.0%) and appointments (24.2%). Of students with more than one absence (n = 217; 34.5%), about half were absent for more than one reason. Students attending mainstream schools had lower attendance than those attending special schools. CONCLUSIONS: Students with ID were absent for a range of reasons and often for multiple reasons. There were elevated rates of school withdrawal and school refusal. Understanding the reasons for absenteeism can inform targeted prevention and intervention supports.


Asunto(s)
Absentismo , Discapacidad Intelectual , Niño , Femenino , Humanos , Discapacidad Intelectual/epidemiología , Australia/epidemiología , Estudiantes/psicología , Padres
2.
J Intellect Disabil Res ; 66(7): 655-666, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35677963

RESUMEN

BACKGROUND: Research suggests that adults with autism tend to have poor outcomes. Outcomes have mostly been defined using summary outcome ratings, with less focus on specific outcomes such as employment, living situation, social satisfaction, loneliness, and friendships. This study aimed to explore social and community outcomes, including employment, education, living arrangements, friendships, and social satisfaction, for autistic adults with and without intellectual disability. METHOD: Eighty-four adults with autism (mean age 34.2 years, SD = 4.5; 67% with co-occurring intellectual disability), recruited as children and adolescents, participated in the current study. Adult social and community inclusion outcomes were explored through interview and questionnaire, both parent/carer-report and self-report. RESULTS: Participants predominantly lived with family or in supported accommodation, did not pursue higher education, and mostly participated in day activity programmes. Most had limited friendships as reported by parents/carers; however, self-report data (n = 28) indicated that adults were largely satisfied with their social relationships. Overall outcome was poor for 57%, and good/very good for 34%. Adults with intellectual disability generally had poorer outcomes. CONCLUSION: Autistic adults encountered numerous difficulties in leading an independent life. Adults with co-occurring intellectual disability were most likely to experience difficulties; however, outcomes ranged from poor to very good for adults without intellectual disability. Discrepancies in parent/carer-report and self-reported experiences of friendships highlight the need to ensure individual experiences are captured in addition to parent/carer-report. Appropriate resources and programmes are crucial for adults with autism to support them to have the choice to live independently.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Discapacidad Intelectual , Adolescente , Adulto , Australia/epidemiología , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/terapia , Trastorno Autístico/complicaciones , Cuidadores , Niño , Empleo , Humanos , Discapacidad Intelectual/epidemiología
3.
J Clin Microbiol ; 59(11): e0104621, 2021 10 19.
Artículo en Inglés | MEDLINE | ID: mdl-34379527

RESUMEN

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) genomic surveillance has been vital in understanding the spread of coronavirus disease 2019 (COVID-19), the emergence of viral escape mutants, and variants of concern. However, low viral loads in clinical specimens affect variant calling for phylogenetic analyses and detection of low-frequency variants, important in uncovering infection transmission chains. We systematically evaluated three widely adopted SARS-CoV-2 whole-genome sequencing methods for their sensitivity, specificity, and ability to reliably detect low-frequency variants. Our analyses reveal that the ARTIC v3 protocol consistently displays high sensitivity for generating complete genomes at low viral loads compared with the probe-based Illumina Respiratory Viral Oligo panel and a pooled long-amplicon method. We show substantial variability in the number and location of low-frequency variants detected using the three methods, highlighting the importance of selecting appropriate methods to obtain high-quality sequence data from low-viral-load samples for public health and genomic surveillance purposes.


Asunto(s)
COVID-19 , SARS-CoV-2 , Secuencia de Bases , Genoma Viral , Humanos , Filogenia , Secuenciación Completa del Genoma
4.
BJOG ; 128(1): 55-65, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-32741103

RESUMEN

OBJECTIVE: To assess whether women with a genetic predisposition to medical conditions known to increase pre-eclampsia risk have an increased risk of pre-eclampsia in pregnancy. DESIGN: Case-control study. SETTING AND POPULATION: Pre-eclampsia cases (n = 498) and controls (n = 1864) in women of European ancestry from five US sites genotyped on a cardiovascular gene-centric array. METHODS: Significant single-nucleotide polymorphisms (SNPs) from 21 traits in seven disease categories (cardiovascular, inflammatory/autoimmune, insulin resistance, liver, obesity, renal and thrombophilia) with published genome-wide association studies (GWAS) were used to create a genetic instrument for each trait. Multivariable logistic regression was used to test the association of each continuous scaled genetic instrument with pre-eclampsia. Odds of pre-eclampsia were compared across quartiles of the genetic instrument and evaluated for significance. MAIN OUTCOME MEASURES: Genetic predisposition to medical conditions and relationship with pre-eclampsia. RESULTS: An increasing burden of risk alleles for elevated diastolic blood pressure (DBP) and increased body mass index (BMI) were associated with an increased risk of pre-eclampsia (DBP, overall OR 1.11, 95% CI 1.01-1.21, P = 0.025; BMI, OR 1.10, 95% CI 1.00-1.20, P = 0.042), whereas alleles associated with elevated alkaline phosphatase (ALP) were protective (OR 0.89, 95% CI 0.82-0.97, P = 0.008), driven primarily by pleiotropic effects of variants in the FADS gene region. The effect of DBP genetic loci was even greater in early-onset pre-eclampsia cases (at <34 weeks of gestation, OR 1.30, 95% CI 1.08-1.56, P = 0.005). For other traits, there was no evidence of an association. CONCLUSIONS: These results suggest that the underlying genetic architecture of pre-eclampsia may be shared with other disorders, specifically hypertension and obesity. TWEETABLE ABSTRACT: A genetic predisposition to increased diastolic blood pressure and obesity increases the risk of pre-eclampsia.


Asunto(s)
Predisposición Genética a la Enfermedad , Preeclampsia/genética , Adulto , Índice de Masa Corporal , Estudios de Casos y Controles , Europa (Continente) , Femenino , Estudio de Asociación del Genoma Completo , Humanos , Hipertensión , Polimorfismo de Nucleótido Simple , Embarazo , Factores de Riesgo , Estados Unidos , Población Blanca , Adulto Joven
5.
J Intellect Disabil Res ; 65(4): 306-319, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-33506597

RESUMEN

BACKGROUND: Parents of children with developmental or intellectual disabilities tend to report greater use of coercive parenting practices relative to parents of typically developing children, increasing the risk of adverse child outcomes. However, to date, there is limited research exploring the role and relative contribution of modifiable and nonmodifiable risk factors in parents of children with a disability. The present study aimed to explore the role of various modifiable and nonmodifiable parenting, family and sociodemographic factors associated with the use of coercive parenting practices in parents of children with a disability. METHODS: Caregivers (N = 1392) enrolled in the Mental Health of Young People with Developmental Disabilities (MHYPeDD) programme in Australia completed a cross-sectional survey about their parenting and their child aged 2-12 years with a disability. Measures covered a range of domains including relevant demographic and family background, use of coercive parenting practices, intensity of child behavioural difficulties and questions relating to parent and family functioning such as parental self-efficacy, adjustment difficulties and quality of family relationships. RESULTS: Parents of older children, those who were younger at the birth of their child, and parents who were co-parenting or working reported more use of coercive parenting practices. Greater intensity of child difficulties, poorer parental self-efficacy and parent-child relationships, and more parental adjustment difficulties were also significantly associated with more use of coercive parenting. Examination of the relative contribution of variables revealed parent-child relationship was a key contributing factor, followed by intensity of child behaviour problems, parent adjustment and parent confidence. CONCLUSIONS: These findings highlight a range of factors that should be targeted and modified through upstream prevention programmes and further inform our understanding of how coercive practices may be influenced through targeted parenting interventions.


Asunto(s)
Discapacidades del Desarrollo , Responsabilidad Parental , Adolescente , Niño , Estudios Transversales , Discapacidades del Desarrollo/epidemiología , Humanos , Padres , Factores de Riesgo , Factores Sociodemográficos
6.
Dis Esophagus ; 33(1)2020 Jan 16.
Artículo en Inglés | MEDLINE | ID: mdl-31313807

RESUMEN

The positive impact on patient comprehension and improved procedural outcomes when multimedia is utilized to convey instructions preprocedurally has been previously shown for gastrointestinal procedures such as colonoscopy. However, in gastroesophageal reflux testing (GERD), we continue to utilize verbal and written instructions to establish this diagnosis when we use BRAVO pH testing. This is arguably a more complex procedure involving stopping medications, placement of a device, and maintaining an accurate diary for the duration of the testing. We hypothesize that by utilizing multimedia to relay complex textual information, patients will have improved comprehension of periprocedural instructions thereby improving data entry and satisfaction of expectations during the procedure. Prospective randomized study of 120 patients undergoing endoscopic placement of the BRAVO pH monitoring capsule for evaluation of GERD receive either written preoperative instructions (control) or written plus video instructions (video group). A composite comprehension score was calculated using procedure-specific parameters of data entry over the 48-hour monitoring period. Patient satisfaction was evaluated on the basis of a five-point Likert scale. Extent of patient satisfaction was defined by the fulfillment of patient expectations. Exclusion criteria included patients who did not have access to the video or did not complete follow-up. Seventy-eight patients completed all follow-up evaluations. The video group (n = 44) had a significantly higher mean comprehension score when compared to the control group (n = 34) (9.6 ± 1.4 vs. 7.4 ± 2.0, P = 0.01). Overall satisfaction with instructions was significantly higher in the intervention group (91% vs. 47%, p 0.01). We detected no significant difference in comprehension or satisfaction scores in subgroup analyses of the video group comparing patients <65 and ≥65 years of age and by education level. Compared to standard written instructions, video instructions improved patient comprehension based on data evaluation, and satisfaction. Therefore, clinicians should consider incorporation of multimedia instructions to enhance patient periprocedural expectations and understanding of reflux pH testing using the BRAVO procedure.


Asunto(s)
Monitorización del pH Esofágico/psicología , Reflujo Gastroesofágico/diagnóstico , Aceptación de la Atención de Salud/psicología , Educación del Paciente como Asunto/métodos , Satisfacción del Paciente/estadística & datos numéricos , Anciano , Comprensión , Femenino , Humanos , Masculino , Persona de Mediana Edad , Multimedia , Estudios Prospectivos
7.
J Intellect Disabil Res ; 64(12): 908-922, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-33006215

RESUMEN

BACKGROUND: People with intellectual disability face a number of barriers to participation in physical activity. This paper aimed to determine rates of sport and physical activity participation in an Australian sample of adults with intellectual disability, compared with rates of participation in the general Australian population. A secondary aim was to investigate factors that may contribute to participation of adults with intellectual disability. METHOD: Participants were part of the Australian Child to Adult Development (ACAD) study, consisting of a community sample with intellectual disability (n = 305), groups of adults with autism (n = 94), Down syndrome (n = 64), fragile X syndrome (n = 52), Williams syndrome (n = 45), and Prader-Willi syndrome (n = 30). Participation in sport/physical activity was reported over the past 3 months. Rates of participation were reported for adults with intellectual disability and compared with rates in a general Australian population sample. The relationship between participation in physical activity and age, degree of intellectual disability, physical mobility, living situation, socio-economic disadvantage, and behaviour and emotional problems were also conducted. RESULTS: Participants in the ACAD community sample with intellectual disability participated in sport/physical activity at lower rates than the general Australian population (42% compared with 71%). Having no physical mobility impairment was significantly associated with higher rates of participation. Those with Down syndrome participated in sport/physical activity at higher rates than the community sample with intellectual disability, while no difference in sport/physical activity participation was observed in the groups with autism or other syndromes. CONCLUSION: Australian adults with intellectual disability participate in sport and physical activity at lower rates than the general population. Having a physical mobility impairment was associated with lower rates of participation. However, people living in supported accommodation were more likely to participate than those in other living situations. Having Down syndrome was associated with a higher participation rate than the community sample.


Asunto(s)
Ejercicio Físico , Discapacidad Intelectual/epidemiología , Deportes/estadística & datos numéricos , Adolescente , Adulto , Australia/epidemiología , Niño , Preescolar , Femenino , Humanos , Masculino , Adulto Joven
8.
J Intellect Disabil Res ; 62(2): 150-155, 2018 02.
Artículo en Inglés | MEDLINE | ID: mdl-28980362

RESUMEN

BACKGROUND: The Strengths and Difficulties Questionnaire (SDQ) is widely used to measure emotional and behavioural problems in typically developing young people, although there is some evidence that it may also be suitable for children with intellectual disability (ID). The Developmental Behaviour Checklist - Parent version (DBC-P) is a measure of emotional and behavioural problems that was specifically designed for children and adolescents with an ID. The DBC-P cut-off has high agreement with clinical diagnosis. The aim of this study was to estimate the relationship between DBC-P and SDQ scores in a sample of children with ID. METHOD: Parents of 83 young people with ID aged 4-17 years completed the parent versions of the SDQ and the DBC-P. We evaluated the concurrent validity of the SDQ and DBC-P total scores, and the agreement between the DBC-P cut-off and the SDQ cut-offs for 'borderline' and 'abnormal' behaviour. RESULTS: The SDQ total difficulties score correlated well with the DBC-P total behaviour problem score. Agreement between the SDQ borderline cut-off and the DBC-P cut-off for abnormality was high (83%), but was lower for the SDQ abnormal cut-off (75%). Positive agreement between the DBC-P and the SDQ borderline cut-off was also high, with the SDQ borderline cut-off identifying 86% of those who met the DBC-P criterion. Negative agreement was weaker, with the SDQ borderline cut-off identifying only 79% of the participants who did not meet the DBC-P cut-off. CONCLUSION: The SDQ borderline cut-off has some validity as a measure of overall levels of behavioural and emotional problems in young people with ID, and may be useful in epidemiological studies that include participants with and without ID. However, where it is important to focus on behavioural profiles in children with ID, a specialised ID instrument with established psychometric properties, such as the DBC-P, may provide more reliable and valid information.


Asunto(s)
Escala de Evaluación de la Conducta/normas , Síntomas Conductuales/diagnóstico , Trastornos de la Conducta Infantil/diagnóstico , Discapacidad Intelectual/diagnóstico , Escalas de Valoración Psiquiátrica/normas , Adolescente , Síntomas Conductuales/etiología , Lista de Verificación , Niño , Trastornos de la Conducta Infantil/etiología , Preescolar , Femenino , Humanos , Discapacidad Intelectual/complicaciones , Masculino , Problema de Conducta , Reproducibilidad de los Resultados
9.
J Anim Breed Genet ; 135(1): 5-13, 2018 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-29178316

RESUMEN

The objective of this study was to compare and determine the optimal validation method when comparing accuracy from single-step GBLUP (ssGBLUP) to traditional pedigree-based BLUP. Field data included six litter size traits. Simulated data included ten replicates designed to mimic the field data in order to determine the method that was closest to the true accuracy. Data were split into training and validation sets. The methods used were as follows: (i) theoretical accuracy derived from the prediction error variance (PEV) of the direct inverse (iLHS), (ii) approximated accuracies from the accf90(GS) program in the BLUPF90 family of programs (Approx), (iii) correlation between predictions and the single-step GEBVs from the full data set (GEBVFull ), (iv) correlation between predictions and the corrected phenotypes of females from the full data set (Yc ), (v) correlation from method iv divided by the square root of the heritability (Ych ) and (vi) correlation between sire predictions and the average of their daughters' corrected phenotypes (Ycs ). Accuracies from iLHS increased from 0.27 to 0.37 (37%) in the Large White. Approximation accuracies were very consistent and close in absolute value (0.41 to 0.43). Both iLHS and Approx were much less variable than the corrected phenotype methods (ranging from 0.04 to 0.27). On average, simulated data showed an increase in accuracy from 0.34 to 0.44 (29%) using ssGBLUP. Both iLHS and Ych approximated the increase well, 0.30 to 0.46 and 0.36 to 0.45, respectively. GEBVFull performed poorly in both data sets and is not recommended. Results suggest that for within-breed selection, theoretical accuracy using PEV was consistent and accurate. When direct inversion is infeasible to get the PEV, correlating predictions to the corrected phenotypes divided by the square root of heritability is adequate given a large enough validation data set.


Asunto(s)
Cruzamiento , Genómica , Tamaño de la Camada/genética , Modelos Estadísticos , Linaje , Porcinos/genética , Porcinos/fisiología , Animales , Femenino , Masculino
10.
J Dairy Sci ; 100(7): 5628-5641, 2017 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-28478000

RESUMEN

Digital dermatitis (DD) is the most prevalent foot lesion affecting dairy herds worldwide. Its implications include production losses and decreased animal welfare. Footbathing is the most common herd-level prevention strategy for DD. Because many common footbath products have negative environmental and health consequences, replacement products expected to have improved safety but equal efficacy are being developed. Therefore, the aim of this study was to evaluate the efficacy of a new quaternary ammonium-based commercial footbath product (QAC) for reducing the prevalence of active DD lesions compared with an industry standard (copper sulfate; CuSO4) and typical on-farm footbath practices. A controlled intervention trial was conducted on 19 Alberta dairy farms over 12 wk, with 9 farms allocated to the QAC group (1% QAC daily, 5 d/wk), 5 to the CuSO4 group (5% CuSO4 daily, 5 d/wk), and 5 to a noninterference group (maintained typical footbath practices). A total of 22,285 observations on 3,465 lactating cows were assessed for DD lesions and leg cleanliness in the milking parlor. Five farms discontinued use of the QAC product for various reasons. Noninferiority analysis was used to assess QAC ability to decrease the proportion of cows with 1 or more active DD lesions compared with CuSO4 after 6 wk. Multilevel logistic regression models for repeated measures were used to evaluate efficacy of QAC compared with CuSO4 and noninterference farms in reducing the prevalence of active DD lesions at the foot level over 12 wk. The noninferiority analysis determined that the proportion of cows with 1 or more active DD lesion decreased 2.19 (95% CI: 1.39-3.46) times less after 6 wk of study on the QAC farms compared with CuSO4 farms, making QAC inferior to CuSO4. The multilevel logistic regression models determined that the proportion of active DD lesions increased in the QAC herds, whereas this proportion decreased in the CuSO4 and noninterference herds over 12 wk. Additionally, cows in mid- and late-lactation had a higher odds of having active DD compared with fresh cows. Older cows (parity 3 and ≥4) had a decreased odds of active DD compared with first-parity cows. At the farm level, a higher baseline active DD prevalence resulted in increased odds of active DD; however, this did not modify the effect of treatment or week of study. We concluded that QAC was inferior to CuSO4 and typical on-farm footbath practices, and further development of novel footbath products is required to develop an ideal alternative.


Asunto(s)
Enfermedades de los Bovinos/tratamiento farmacológico , Sulfato de Cobre/uso terapéutico , Dermatitis Digital/tratamiento farmacológico , Factores de Edad , Alberta , Animales , Baños/métodos , Baños/veterinaria , Bovinos , Industria Lechera , Femenino , Lactancia , Embarazo
11.
J Anim Physiol Anim Nutr (Berl) ; 101(3): 429-433, 2017 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-27868252

RESUMEN

The trace element selenium is essential to both dogs and cats. Dry diets are formulated with a large range of ingredients, which may vary in selenium concentration and accessibility. This paper reports equations to predict the average in vitro selenium accessibility from dry pet foods based on essential dietary nutrient concentrations, including crude protein, amino acids and crude fat. Predictive equations were made using stepwise linear regression for extruded and pelleted diets. The equations can be used to aid diet formulation to optimize selenium accessibility within the diet and to prevent selenium deficiency or toxicity.


Asunto(s)
Alimentación Animal/análisis , Análisis de los Alimentos/métodos , Mascotas , Selenio/química , Fenómenos Fisiológicos Nutricionales de los Animales , Animales , Disponibilidad Biológica , Gatos , Perros , Alimentos en Conserva , Oligoelementos
12.
13.
J Anim Breed Genet ; 133(2): 138-44, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26174369

RESUMEN

Sow longevity is a key component for efficient and profitable pig farming; however, approximately 50% of sows are removed annually from a breeding herd. There is no consensus in the scientific literature regarding a definition for sow longevity; however, it has been suggested that it can be measured using several methods such as stayability and economic indicators such as lifetime piglets produced. Sow longevity can be improved by genetic selection; however, it is rarely included in genetic evaluations. One reason is elongated time intervals required to collect complete lifetime data. The effect of genetic parameter estimation software in handling incomplete data (censoring) and possible early indicator traits were evaluated analysing a 30% censored data set (12 725 pedigreed Landrace × Large White sows that included approximately 30% censored data) with DMU6, THRGIBBS1F90 and GIBBS2CEN. Heritability estimates were low for all the traits evaluated. The results show that the binary stayability traits benefited from being analysed with a threshold model compared to analysing with a linear model. Sires were ranked very similarly regardless if the program handled censoring when all available data were included. Accumulated born alive and stayability were good indicators for lifetime born alive traits. Number of piglets born alive within each parity could be used as an early indicator trait for sow longevity.


Asunto(s)
Sus scrofa/fisiología , Crianza de Animales Domésticos , Animales , Femenino , Longevidad
14.
J Anim Physiol Anim Nutr (Berl) ; 100(3): 532-6, 2016 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-26250395

RESUMEN

Low circulating taurine concentrations may be a risk factor for dilated cardiomyopathy (DCM) in dogs. Circulating taurine is typically measured in the clinic 4-5 h after feeding, largely because the impact of later sampling is not known. The objective of this study was to measure taurine in the blood during a 48-h fast in 12 healthy adult Labrador Retrievers to refine sampling methodology for determination of taurine status. Plasma and whole blood (WB) taurine concentrations did not fall to levels indicative of clinical deficiency throughout fasting; WB was the more reliable indicator of taurine status. This study shows that blood samples can be taken for assessment of taurine status any time up to 48 h after ingestion of a meal in healthy adult dogs.


Asunto(s)
Perros/sangre , Privación de Alimentos/fisiología , Taurina/sangre , Animales , Perros/fisiología , Factores de Tiempo
15.
J Intellect Disabil Res ; 59(8): 689-702, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-25414060

RESUMEN

BACKGROUND: Studies on adaptive behaviour and ageing in adults with Down syndrome (DS) (without dementia) have typically analysed age-related change in terms of the total item scores on questionnaires. This research extends the literature by investigating whether the age-related changes in adaptive abilities could be differentially attributed to changes in the number or severity (intensity) of behavioural questionnaire items endorsed. METHODS: The Adaptive Behaviour Assessment System-II Adult (ABAS-II Adult) was completed by parents and caregivers of 53 adults with DS aged between 16 and 56 years. Twenty adults with DS and their parents/caregivers were a part of a longitudinal study, which provided two time points of data. In addition 33 adults with DS and their parents/caregivers from a cross-sectional study were included. Random effects regression analyses were used to examine the patterns in item scores associated with ageing. RESULTS: Increasing age was found to be significantly associated with lower adaptive behaviour abilities for all the adaptive behaviour composite scores, expect for the practical composite. These associations were entirely related to fewer ABAS-II Adult items being selected as present for the older participants, as opposed to the scores being attributable to lower item severity. CONCLUSIONS: This study provides evidence for a differential pattern of age-related change for various adaptive behaviour skills in terms of range, but not severity. Possible reasons for this pattern will be discussed. Overall, these findings suggest that adults with DS may benefit from additional support in terms of their social and conceptual abilities as they age.


Asunto(s)
Adaptación Psicológica , Envejecimiento/psicología , Síndrome de Down/psicología , Adolescente , Adulto , Factores de Edad , Cuidadores , Estudios Transversales , Femenino , Humanos , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Padres , Índice de Severidad de la Enfermedad , Encuestas y Cuestionarios , Adulto Joven
16.
Ann Oncol ; 25(2): 331-8, 2014 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-24276027

RESUMEN

BACKGROUND: Approximately a quarter of men with metastatic non-seminomatous germ cell tumor (NSGCT) have a residual mass, typically in the retroperitoneum, after chemotherapy. The management of small residual masses (≤1 cm) is controversial, with good outcomes seen with either post-chemotherapy retroperitoneal lymph node dissection (PC-RPLND) or surveillance. We sought to review our experience of surveillance and synthesize the cumulative findings with the current literature in the form of a meta-analysis. PATIENTS AND METHODS: We searched PubMed, EMBASE and abstracts from ASCO and AUA to identify relevant, English-language studies for the meta-analysis. The DFCI (Dana Farber Cancer Institute) database was constructed from a database of men undergoing cisplatin-based chemotherapy for metastatic NSGCT. The outcomes of interest were the proportion with necrosis, teratoma or active cancer on histology at PC-RPLND (literature) and the total number of relapses, RP-only relapses and overall survival in men undergoing surveillance (literature and DFCI cohort). RESULTS: Three of 47 men undergoing post-chemotherapy surveillance at our institution relapsed over a median follow-up of 5.4 years. All three were alive at a median of 4.2 years after relapse. On meta-analysis, the pooled estimates of necrosis, teratoma and active cancer in the 588 men who underwent PC-RPLND were 71, 24 and 4%, respectively. Of the combined 455 men who underwent surveillance, the pooled estimate of the relapse rate was 5%, with an RP-only relapse rate of 3%. Of the 15 men who suffered an RP-only relapse on surveillance, two died of disease. CONCLUSION: Surveillance is a reasonable strategy for men with minimal residual RP disease after chemotherapy and avoids an RPLND in ∼97% of men who are cured with chemotherapy alone.


Asunto(s)
Recurrencia Local de Neoplasia/prevención & control , Seminoma/terapia , Neoplasias Testiculares/terapia , Antineoplásicos/uso terapéutico , Terapia Combinada , Humanos , Escisión del Ganglio Linfático , Metástasis Linfática , Masculino , Recurrencia Local de Neoplasia/mortalidad , Seminoma/mortalidad , Seminoma/secundario , Neoplasias Testiculares/mortalidad , Neoplasias Testiculares/patología , Resultado del Tratamiento , Carga Tumoral
17.
Ann Oncol ; 25(11): 2178-2184, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25193987

RESUMEN

BACKGROUND: Programmed death ligand-1 (PD-L1) expression in nonclear-cell RCC (non-ccRCC) and its association with clinical outcomes are unknown. METHODS: Formalin-fixed paraffin-embedded (FFPE) specimens were obtained from 101 patients with non-ccRCC. PD-L1 expression was evaluated by immunohistochemistry in both tumor cell membrane and tumor-infiltrating mononuclear cells (TIMC). PD-L1 tumor positivity was defined as ≥5% tumor cell membrane staining. For PD-L1 expression in TIMC, a combined score based on the extent of infiltrate and percentage of positive cells was used. Baseline clinico-pathological characteristics and outcome data [time to recurrence (TTR) and overall survival (OS)] were correlated with PD-L1 staining. RESULTS: Among 101 patients, 11 (10.9%) were considered PD-L1+ in tumor cells: 2/36 (5.6%) of chromophobe RCC, 5/50 (10%) of papillary RCC, 3/10 (30%) of Xp11.2 translocation RCC and 1/5 (20%) of collecting duct carcinoma. PD-L1 positivity (PD-L1+) in tumor cells was significantly associated with higher stage (P = 0.01) and grade (P = 0.03), as well as shorter OS (P < 0.001). On the other hand, PD-L1 positivity by TIMC was observed in 57 (56.4%) patients: 13/36 (36.1%) of chromophobe RCC, 30/50 (60%) of papillary RCC, 9/10 (90%) of Xp11.2 translocation RCC and 5/5 (100%) of collecting duct carcinoma. A trend toward shorter OS was observed in patients with PD-L1+ in TIMC (P = 0.08). PD-L1+ in both tumor cell membrane and TIMC cells were associated with shorter TTR (P = 0.02 and P = 0.03, respectively). CONCLUSION: In non-ccRCC, patients with PD-L1+ tumors appear to have worse clinical outcomes, although only PD-L1 positivity in tumor cells is associated with higher tumor stage and grade.


Asunto(s)
Antígeno B7-H1/biosíntesis , Carcinoma de Células Renales/genética , Recurrencia Local de Neoplasia/genética , Adulto , Anciano , Anciano de 80 o más Años , Antígeno B7-H1/antagonistas & inhibidores , Antígeno B7-H1/genética , Carcinoma de Células Renales/tratamiento farmacológico , Carcinoma de Células Renales/patología , Femenino , Regulación Neoplásica de la Expresión Génica , Humanos , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia/patología , Estadificación de Neoplasias , Análisis de Supervivencia , Adulto Joven
18.
J Intellect Disabil Res ; 58(8): 734-45, 2014 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23865802

RESUMEN

BACKGROUND: Despite recognition of the importance of integrated community living and support, there is evidence that parents remain the primary caregivers of young adults with intellectual disability (ID). In addition, employment rates remain low in this population. This study aimed to investigate the changes in living arrangements and participation in daytime activities over time in a community population of young people with ID. METHOD: The sample consisted of 536 participants aged 4.0-18.9 years at Wave 1, followed up at Wave 5 when aged 20.5-37.6 years. Information was collected on their living arrangements and daytime activities at both time points, along with living skills and information on community social inclusion at Wave 5. For parents still caring for their adult child with ID, information was also collected on parental ratings of their own mental and physical health, and their satisfaction with the long-term care arrangements for their adult child. RESULTS: A significant proportion of young people were still living with their parents at Wave 5. A greater proportion of those with a severe-profound degree of ID were living in residential care. Parents caring for their adult child reported high levels of mental health problems and dissatisfaction with the long-term care arrangements for their child. A small proportion of young people were in paid employment, and the majority was engaged in structured activities provided for those with an ID. Over one-third of the sample participated in a structured daytime activity for 10 or fewer hours per week, and 7% were not engaged in any structured daytime activity. CONCLUSIONS: These results suggest that adequate provision of accommodation and employment services for young adults with an ID is lacking. In many cases the responsibility of care continues to reside with parents as their children transition from childhood to adulthood. Greater attention is needed to address these issues and facilitate social inclusion and integration for young people with ID.


Asunto(s)
Participación de la Comunidad/estadística & datos numéricos , Educación de las Personas con Discapacidad Intelectual/estadística & datos numéricos , Empleo/estadística & datos numéricos , Discapacidad Intelectual/rehabilitación , Rehabilitación Vocacional/estadística & datos numéricos , Características de la Residencia/estadística & datos numéricos , Adolescente , Adulto , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Discapacidad Intelectual/epidemiología , Masculino , Nueva Gales del Sur/epidemiología , Adulto Joven
19.
Microsc Microanal ; 20(6): 1791-7, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25263577

RESUMEN

To date, it is unclear whether chemical order (or disorder) is in any way connected to double exchange, electronic phase separation, or charge ordering (CO) in manganites. In this work, we carry out an atomic resolution study of the colossal magnetoresistant manganite La(2-2x)Sr(1+2x)Mn2O7 (LSMO). We combine aberration-corrected electron microscopy and spectroscopy with spectroscopic image simulations, to analyze cation ordering at the atomic scale in real space in a number of LSMO single crystals. We compare three different compositions within the phase diagram: a ferromagnetic metallic material (x=0.36), an insulating, antiferromagnetic charge ordered (AF-CO) compound (x=0.5), which also exhibits orbital ordering, and an additional AF sample (x=0.56). Detailed image simulations are essential to accurately quantify the degree of chemical ordering of these samples. We find a significant degree of long-range chemical ordering in all cases, which increases in the AF-CO range. However, the degree of ordering is never complete nor can it explain the strongly correlated underlying ordering phenomena. Our results show that chemical ordering over distinct crystallographic sites is not needed for electronic ordering phenomena to appear in manganites, and cannot by itself explain the complex electronic behavior of LSMO.

20.
Eur J Cancer ; 200: 113535, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38309015

RESUMEN

BACKGROUND: Triple-negative breast cancer (TNBC) is the most aggressive breast cancer (BC) subtype, with dismal prognosis and limited option in advanced settings, yet stromal tumor infiltrating lymphocytes (sTILs) in this subtype has a predictive role. PATIENTS AND METHODS: The International Breast Cancer Study Group (IBCSG) Trial 22-00 is a randomized phase III clinical trial testing the efficacy of low-dose metronomic oral Cyclophosphamide-Methotrexate (CM) maintenance following standard adjuvant chemotherapy treatment for early-stage hormone receptor-negative breast cancer patients. A case-cohort sampling was used. We characterized immune cells infiltrates in patients with TNBC by 6 plex immunofluorescence (IF) staining for CD4, FOXP3, CD3, cytokeratine and CD8 RESULTS: We confirmed that high immune CD3+ T cells as well as stromal and intra-epithelial Tregs (CD4+Foxp3+ T cells) infiltrates were associated with a better Distant Recurrence-Free Interval (DRFI), especially in LN+ patient, regardless of the treatment. More importantly, we showed that the spatial distribution of immune cells at baseline is crucial, as CM maintenance was detrimental for T cells excluded LN+ TNBC patients. CONCLUSIONS: immune spatial classification on immune cells infiltrates seems crucial and could help patients' selection in clinical trial and greatly improve responses to specific therapies.


Asunto(s)
Neoplasias de la Mama Triple Negativas , Humanos , Biomarcadores de Tumor/análisis , Ciclofosfamida , Supervivencia sin Enfermedad , Factores de Transcripción Forkhead , Linfocitos Infiltrantes de Tumor , Metotrexato , Pronóstico , Neoplasias de la Mama Triple Negativas/diagnóstico por imagen , Neoplasias de la Mama Triple Negativas/tratamiento farmacológico , Femenino , Ensayos Clínicos Controlados Aleatorios como Asunto , Ensayos Clínicos Fase III como Asunto
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