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1.
Cell ; 186(18): 3747-3752, 2023 08 31.
Artículo en Inglés | MEDLINE | ID: mdl-37657415

RESUMEN

A paradigm shift in research culture is required to ease perceived tensions between autistic people and the biomedical research community. As a group of autistic and non-autistic scientists and stakeholders, we contend that through participatory research, we can reject a deficit-based conceptualization of autism while building a shared vision for a neurodiversity-affirmative biomedical research paradigm.


Asunto(s)
Trastorno Autístico , Investigación Biomédica , Humanos , Investigación Biomédica/ética , Conducta , Investigación Participativa Basada en la Comunidad
2.
J Pediatr Nurs ; 71: e46-e56, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37127476

RESUMEN

PURPOSE: Although family involvement is critical to successful augmentative and alternative communication (AAC) device utilization, little is known about how families adapt to technology. The aim of this qualitative study was to explore parent-reported factors contributing to family adaptation among families with adolescents diagnosed with autism and/or Down syndrome (DS) utilizing AAC technology. This study describes families' experiences related to several interacting variables of the Resiliency Model, including demand, type, appraisal, resources, and problem-solving/coping, that helped shape the outcome of adaptation to AAC technology. Nurses are well-positioned in a variety of practice settings to assess vulnerable families and assist with identifying resources and navigating complex service systems. DESIGN AND METHODS: Semi-structured interviews were conducted with eight parents of adolescents with autism and/or DS (aged 13-18) recruited through online research registries, support organizations, and a social networking site. Recorded interviews were transcribed, and two independent reviewers coded and analyzed the data. Comparisons across all families' thematic summaries were examined for patterns. RESULTS: Five themes described aspects of family adaptation: Contextual Strains and Influences, Continuum of Person-First Approach, Opening Doors, Facilitators of Support, and Planning Is Key. CONCLUSIONS: Findings highlighted the challenges and demands associated with raising an adolescent using an AAC device, as well as the attributes, resources, perceptions, and strategies that either contributed or hindered family adaptation. PRACTICE IMPLICATIONS: AAC technology is readily available for adolescents with developmental disabilities. It is essential that nurses assess key adaptation components to support families in integrating and using the technology.


Asunto(s)
Trastorno Autístico , Equipos de Comunicación para Personas con Discapacidad , Humanos , Adolescente , Padres , Adaptación Psicológica , Comunicación
3.
Subst Use Misuse ; 57(1): 21-26, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-34738494

RESUMEN

ObjectiveThe emergence of synthetic fentanyl has been a main contributor to North America's rising overdose death rates. While increasing attention has been given to drug-related harm among youth, little is known about how social-structural conditions influence their risk of fentanyl exposure. Therefore, we evaluated potential relationships between social-structural conditions and fentanyl exposure among youth who use illicit drugs in Vancouver, BC. Methods: Data were derived from the At-Risk Youth Study (ARYS), a prospective cohort study. The ARYS cohort involves street-involved youth, who use illicit substances in Vancouver, Canada. A multivariable logic regression analysis model was used to identify social factors associated with recent fentanyl exposure as determined through urine drug screening. Results: Overall, 423 participants were included in this analysis, with 380 (38.23%) testing positive for recent fentanyl exposure. In a multivariable relative risk analysis, living in Vancouver's Downtown Eastside in the last six months (RR = 1.16, 95% CI: 1.03-1.32) and daily heroin injection drug use (RR = 1.31, 95% CI: 1.15 - 1.50) were positively associated with fentanyl exposure. As a secondary measure, we found that within the encounters who denied using fentanyl (92.25% of total encounters), 321 (35.05%) still tested positive. Conclusions: We found that youth residing in Vancouver's Downtown Eastside was positively associated with being exposed to fentanyl. Our findings highlight the need to support youth in finding secure housing outside of Vancouver's drug use epicenter to reduce fentanyl exposure.


Asunto(s)
Sobredosis de Droga , Jóvenes sin Hogar , Drogas Ilícitas , Adolescente , Canadá/epidemiología , Sobredosis de Droga/prevención & control , Fentanilo , Humanos , Estudios Prospectivos
4.
J Intellect Disabil ; 26(4): 919-937, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-35898186

RESUMEN

Perinatal depression/anxiety is a significant concern for mothers of children with Down syndrome. This is influenced by the way the Down syndrome diagnosis is shared with parents. This study examined social media posts from mothers regarding experiences of the birth of their child with Down syndrome. Forty-three total stories were coded using thematic content analysis. Results highlighted the experiences of mother's who received a diagnosis of Down syndrome for their newborn. Two themes were found with relevant subthemes (i.e., receiving the diagnosis-mother's intuition, confirmation of the diagnosis, influence of potential health concerns, initial emotions, impact of the medical professional; Processing the diagnosis-life-altering, child not meeting expectations, reframing the diagnosis, impact of partner and others). Findings highlight the need for medical personnel to understand this identity-changing process, as perinatal depression/anxiety looks different for these mothers. There is also a need to help them engage in services accordingly.


Asunto(s)
Síndrome de Down , Discapacidad Intelectual , Medios de Comunicación Sociales , Embarazo , Niño , Femenino , Recién Nacido , Humanos , Madres/psicología , Emociones , Investigación Cualitativa
5.
BMC Med ; 18(1): 136, 2020 05 14.
Artículo en Inglés | MEDLINE | ID: mdl-32404148

RESUMEN

BACKGROUND: Medical schools differ, particularly in their teaching, but it is unclear whether such differences matter, although influential claims are often made. The Medical School Differences (MedDifs) study brings together a wide range of measures of UK medical schools, including postgraduate performance, fitness to practise issues, specialty choice, preparedness, satisfaction, teaching styles, entry criteria and institutional factors. METHOD: Aggregated data were collected for 50 measures across 29 UK medical schools. Data include institutional history (e.g. rate of production of hospital and GP specialists in the past), curricular influences (e.g. PBL schools, spend per student, staff-student ratio), selection measures (e.g. entry grades), teaching and assessment (e.g. traditional vs PBL, specialty teaching, self-regulated learning), student satisfaction, Foundation selection scores, Foundation satisfaction, postgraduate examination performance and fitness to practise (postgraduate progression, GMC sanctions). Six specialties (General Practice, Psychiatry, Anaesthetics, Obstetrics and Gynaecology, Internal Medicine, Surgery) were examined in more detail. RESULTS: Medical school differences are stable across time (median alpha = 0.835). The 50 measures were highly correlated, 395 (32.2%) of 1225 correlations being significant with p < 0.05, and 201 (16.4%) reached a Tukey-adjusted criterion of p < 0.0025. Problem-based learning (PBL) schools differ on many measures, including lower performance on postgraduate assessments. While these are in part explained by lower entry grades, a surprising finding is that schools such as PBL schools which reported greater student satisfaction with feedback also showed lower performance at postgraduate examinations. More medical school teaching of psychiatry, surgery and anaesthetics did not result in more specialist trainees. Schools that taught more general practice did have more graduates entering GP training, but those graduates performed less well in MRCGP examinations, the negative correlation resulting from numbers of GP trainees and exam outcomes being affected both by non-traditional teaching and by greater historical production of GPs. Postgraduate exam outcomes were also higher in schools with more self-regulated learning, but lower in larger medical schools. A path model for 29 measures found a complex causal nexus, most measures causing or being caused by other measures. Postgraduate exam performance was influenced by earlier attainment, at entry to Foundation and entry to medical school (the so-called academic backbone), and by self-regulated learning. Foundation measures of satisfaction, including preparedness, had no subsequent influence on outcomes. Fitness to practise issues were more frequent in schools producing more male graduates and more GPs. CONCLUSIONS: Medical schools differ in large numbers of ways that are causally interconnected. Differences between schools in postgraduate examination performance, training problems and GMC sanctions have important implications for the quality of patient care and patient safety.


Asunto(s)
Facultades de Medicina/normas , Estudiantes de Medicina/estadística & datos numéricos , Femenino , Humanos , Masculino , Reino Unido
6.
BMC Med ; 18(1): 126, 2020 05 14.
Artículo en Inglés | MEDLINE | ID: mdl-32404194

RESUMEN

BACKGROUND: What subjects UK medical schools teach, what ways they teach subjects, and how much they teach those subjects is unclear. Whether teaching differences matter is a separate, important question. This study provides a detailed picture of timetabled undergraduate teaching activity at 25 UK medical schools, particularly in relation to problem-based learning (PBL). METHOD: The Analysis of Teaching of Medical Schools (AToMS) survey used detailed timetables provided by 25 schools with standard 5-year courses. Timetabled teaching events were coded in terms of course year, duration, teaching format, and teaching content. Ten schools used PBL. Teaching times from timetables were validated against two other studies that had assessed GP teaching and lecture, seminar, and tutorial times. RESULTS: A total of 47,258 timetabled teaching events in the academic year 2014/2015 were analysed, including SSCs (student-selected components) and elective studies. A typical UK medical student receives 3960 timetabled hours of teaching during their 5-year course. There was a clear difference between the initial 2 years which mostly contained basic medical science content and the later 3 years which mostly consisted of clinical teaching, although some clinical teaching occurs in the first 2 years. Medical schools differed in duration, format, and content of teaching. Two main factors underlay most of the variation between schools, Traditional vs PBL teaching and Structured vs Unstructured teaching. A curriculum map comparing medical schools was constructed using those factors. PBL schools differed on a number of measures, having more PBL teaching time, fewer lectures, more GP teaching, less surgery, less formal teaching of basic science, and more sessions with unspecified content. DISCUSSION: UK medical schools differ in both format and content of teaching. PBL and non-PBL schools clearly differ, albeit with substantial variation within groups, and overlap in the middle. The important question of whether differences in teaching matter in terms of outcomes is analysed in a companion study (MedDifs) which examines how teaching differences relate to university infrastructure, entry requirements, student perceptions, and outcomes in Foundation Programme and postgraduate training.


Asunto(s)
Curriculum/normas , Educación de Pregrado en Medicina/organización & administración , Femenino , Humanos , Masculino , Encuestas y Cuestionarios , Reino Unido
7.
J Fam Nurs ; 26(2): 153-178, 2020 05.
Artículo en Inglés | MEDLINE | ID: mdl-32389060

RESUMEN

Families with children who have developmental disabilities and complex communication needs (CCNs) face challenging demands affecting family adaptation. Many children with CCNs use augmentative and alternative communication (AAC) devices to support communication, yet little is known about family adaptation to such technology. To fill this gap, an integrative review, guided by the Resiliency Model of Family Stress, Adjustment, and Adaptation was conducted to assess conceptual foundations and the state of the science of family adaptation among children utilizing AAC. Web-based searches were conducted using the Preferred Reporting Items for Systematic Reviews and Meta-Analysis and the Mixed Methods Appraisal Tool. Thirty-three studies met eligibility. Findings demonstrated that to enhance the science underpinning family adaptation to AAC use, future research should be grounded conceptually and address important components of the Resiliency Model. Work in this emerging area will identify and facilitate nursing efforts to assist families as they adapt to communication technology.


Asunto(s)
Adaptación Psicológica , Actitud hacia los Computadores , Equipos de Comunicación para Personas con Discapacidad/psicología , Comunicación , Familia/psicología , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven
8.
Scand J Gastroenterol ; 54(5): 597-602, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-31056967

RESUMEN

Background: Angioectasias are a prominent cause of small bowel (SB) bleeding frequently identified during capsule endoscopy (CE). Subsequent management depends upon grade/severity and location. There is increasing evidence that the location of SB angioectasias is not random. We aimed to map the distribution of SB angioectasias, and assess whether this impacted clinical outcomes. Materials and methods: Retrospective study examining CEs performed over a 10-year period at a tertiary referral centre. Information regarding number, location, and Saurin classification (P0-2) of SB angioectasias was collected. Clinically significant angioectasias (P1/P2) and active SB bleeding were analysed further. Outcomes of patients with P2 angioectasias or active SB bleeding were recorded. Results: 164 SBCE examinations reported angioectasias. 554 P1-2 angioectasias and active bleeds were seen, 435 (78.52%) within the first tertile of SB transit time (SBTT). 277 (50%) angioectasias were identified within the first 10% of SBTT. 40/75 (53.3%) patients with >1 P2 angioectasia and/or active bleed were referred for intervention. Of initial interventions, 24 patients underwent upper GI endoscopy; 13 underwent double balloon enteroscopy (DBE). 9/37(24.3%) had no identifiable angioectasias on endoscopy. Of those receiving ablative therapy, 20/28 (71.4%) re-presented with iron-deficiency anaemia or bleeding. In this group, average angioectasia position was 15.6% of SBTT, compared with 7.9% in those who did not re-represent (p = 0.344). Patients who re-presented had an average 1.6 additional P1 angioectasias, compared with 7.6 amongst those who did not return (p = 0.017). Conclusions: Clinically significant angioectasias are overwhelmingly located within the proximal SB. The majority are within reach of conventional endoscopy. However, AEs are often multiple and many patients re-present following intervention.


Asunto(s)
Malformaciones Arteriovenosas/patología , Endoscopía Gastrointestinal , Hemorragia Gastrointestinal/patología , Intestino Delgado/irrigación sanguínea , Anciano , Anemia Ferropénica/etiología , Anemia Ferropénica/patología , Endoscopía Capsular , Enteroscopía de Doble Balón , Femenino , Humanos , Masculino , Estudios Retrospectivos , Centros de Atención Terciaria
9.
Environ Sci Technol ; 51(22): 13095-13103, 2017 Nov 21.
Artículo en Inglés | MEDLINE | ID: mdl-29048890

RESUMEN

The urban heat island (UHI) is a widely observed phenomenon whereby urban environments have higher temperatures and different relative humidities than surrounding suburban and rural areas. Temperature (T) and relative humidity (RH) strongly affect the partitioning of semivolatile species found in the atmosphere, such as nitric acid, ammonia, and water. These species are inherently tied to aerosol pH, which is a key parameter driving some atmospheric chemical processes and environmental effects of aerosols. In this study, we characterized the effect of the UHI on aerosol pH in Baltimore, MD, and Chicago, IL. The T and RH differences that define the UHI lead to substantial differences in aerosol liquid water (ALW) content. The ALW differences produce urban aerosol pH that is systematically lower (more acidic) than rural aerosol pH for identical atmospheric composition. The UHI in Baltimore and Chicago are most intense during the summer and at night, with urban-rural aerosol pH differences in excess of 0.8 and 0.65 pH units, respectively. The UHI has been observed in cities of all sizes: the similarity of our results for cities with different climatologies and aerosol compositions suggests that these results have broad implications for chemistry occurring in and around urban atmospheres globally.


Asunto(s)
Aerosoles , Calor , Baltimore , Chicago , Ciudades
10.
Violence Vict ; 31(4): 680-91, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27302913

RESUMEN

The Warrior Renew sexual trauma treatment program proposes to target perceived attachment style and the internal working models of interpersonal relationships. This study examined scores on the Relationships Scales Questionnaire and Brief Symptom Inventory pre- and posttreatment in a sample of 62 female veterans who graduated the program. Findings revealed that graduates of Warrior Renew reported significant decreases in fearful and dismissive insecure attachment and significant increases in secure attachment. Scores were significantly correlated with symptoms. Findings lend support to an upward spiral hypothesis associated with long-term positive outcomes found in previous research on Warrior Renew.


Asunto(s)
Apego a Objetos , Psicoterapia de Grupo/métodos , Trastornos por Estrés Postraumático/psicología , Trastornos por Estrés Postraumático/terapia , Veteranos/psicología , Adulto , Femenino , Humanos , Relaciones Interpersonales , Apoyo Social , Evaluación de Síntomas , Adulto Joven
11.
J Clin Gastroenterol ; 49(5): 395-400, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-24859717

RESUMEN

BACKGROUND: The completion rate (CR) of small bowel capsule endoscopy (SBCE) has been reported at 81.3% to 84.8%. Prokinetic agents are used to increase CR and (theoretically) diagnostic yield (DY). Domperidone has not been widely used in SBCE; unlike metoclopramide, it lacks extrapyramidal adverse effects. OBJECTIVES: This was a retrospective study. This study aimed to assess gastric transit time (GTT), small bowel transit time (SBTT), and the CR of SBCE when using domperidone. Furthermore, we aimed to compare the CR of 2 different SBCE systems (MiroCam, PillCam). Consecutive SBCE examinations (January 2008 to October 2012) from a tertiary referral center were analyzed. RESULTS: In the aforementioned period, a total of 635 SBCE examinations were performed: 379/635 (59.7%) with PillCamSB and 256 (40.3%) with MiroCam. In 437/635 (68.8%) examinations, liquid domperidone (5 mg) was administered for capsule ingestion, whereas 198 (31.2%) ingested the capsule without any domperidone. Although the 2 groups were comparable, the median age of patients who received domperidone was higher compared with patients who did not receive (58 vs. 48 y, P=0.027). In our cohort, the overall CR of SBCE was 88.9%. The 2 SBCE systems showed equivalent CR (PillCamSB 88.9%, MiroCam 89.1%; P =0.96). The use of liquid domperidone increased CR (91.1% vs. 84.3%; P =0.042). Interestingly, the use of domperidone with PillCamSB was associated with reduced DY for vascular, inflammatory, and polyps/mass-type lesions. This effect was not seen in the MiroCam group. Furthermore, the median GTT and the median SBTT did not differ between the 2 groups (GTT/SBTT with domperidone 26.0'/221.0' and without 29.0'/228.0', respectively; P=0.461/P=0.477). A higher CR was noted when domperidone was used with PillCamSB (93.0% vs. 89.5%, P=0.012) than with MiroCam (84.4% vs. 83.3%, P=0.08). LIMITATIONS: The major limitations of this study were the retrospective design of the study and limited numbers on MiroCam with no domperidone. CONCLUSIONS: In conclusion, the use of domperidone increases the CR of SBCE with PillCamSB. However, this increase does not translate into higher DY. A smart, tailored approach, which may include domperidone, purgatives, and real-time viewers, may be used in the clinical practice to improve DY until technology delivering capsules with much longer battery time becomes available.


Asunto(s)
Endoscopía Capsular/métodos , Domperidona/administración & dosificación , Antagonistas de Dopamina/administración & dosificación , Enfermedades Intestinales/diagnóstico , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Endoscopía Capsular/instrumentación , Niño , Femenino , Tránsito Gastrointestinal , Humanos , Intestino Delgado , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Factores de Tiempo , Adulto Joven
12.
Invest New Drugs ; 32(6): 1269-77, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25213162

RESUMEN

BACKGROUND: In preclinical models, the proton pump inhibitor pantoprazole enhances the antitumor activity of chemotherapeutic agents by improving drug distribution and by inhibiting autophagy. METHODS: Patients with advanced solid tumors (n = 24) received doxorubicin 60 mg/m(2) and escalating doses of pantoprazole (80, 160, 240 and 360 mg) administered intravenously prior to doxorubicin. Blood samples were collected for pharmacokinetic studies. An optional biopsy was performed to evaluate doxorubicin concentration and pharmacodynamic markers of drug activity. RESULTS: Twenty-four patients participated in the study (17 in the dose escalation phase and 7 in the dose expansion). Three patients experienced a dose limiting toxicity (grade 3 fatigue in the three cases), one patient at dose level 3 (pantoprazole 240 mg) and two patients at dose level 4 (pantoprazole 360 mg). Dose level 4 was considered to exceed the maximum tolerated dose. The recommended phase II dose was pantoprazole 240 mg and doxorubicin 60 mg/m(2). The most commonly observed toxicities included fatigue, neutropenia and leukopenia. Two patients achieved a confirmed partial response. Median maximum serum concentration of pantoprazole was 84.3 µM at 1-2 h after injection of pantoprazole 240 mg. No drug-drug interaction was observed. A single on-treatment tumor biopsy showed a sharply decreasing gradient in doxorubicin concentration and associated activity markers with increasing distance from tumor blood vessels. CONCLUSION: Administration of high doses of pantoprazole in combination with doxorubicin is feasible. The recommended phase II dose of pantoprazole, 240 mg, will be evaluated in combination with docetaxel as first line in patients with castration-resistant prostate cancer.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias/tratamiento farmacológico , 2-Piridinilmetilsulfinilbencimidazoles/administración & dosificación , 2-Piridinilmetilsulfinilbencimidazoles/efectos adversos , 2-Piridinilmetilsulfinilbencimidazoles/farmacocinética , Adulto , Anciano , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/farmacocinética , Doxorrubicina/administración & dosificación , Doxorrubicina/efectos adversos , Doxorrubicina/farmacocinética , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasias/metabolismo , Pantoprazol , Criterios de Evaluación de Respuesta en Tumores Sólidos
13.
Gastrointest Endosc ; 80(4): 642-651, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-24998466

RESUMEN

BACKGROUND: In small-bowel capsule endoscopy (SBCE), differentiating masses (ie, lesions of higher probability for neoplasia) requiring more aggressive intervention from bulges (essentially, false-positive findings) is a challenging task; recently, software that enables 3-dimensional (3D) reconstruction has become available. OBJECTIVE: To evaluate whether "coupling" 3D reconstructed video clips with the standard 2-dimensional (s2D) counterparts helps in distinguishing masses from bulges. DESIGN: Three expert and 3 novice SBCE readers, blind to others and in a random order, reviewed the s2D video clips and subsequently the s2D clips coupled with their 3D reconstruction (2D+3D). SETTING: Multicenter study in 3 community hospitals in Italy and a university hospital in Scotland. PATIENTS: Thirty-two deidentified 5-minute video clips, containing mucosal bulging (19) or masses (13). INTERVENTION: 3D reconstruction of s2D SBCE video clips. MAIN OUTCOME MEASURE: Differentiation of masses from bulges with s2D and 2D+3D video clips, estimated by the area under the receiver operating characteristic curve (AUC); interobserver agreement. RESULTS: AUC for experts and novices for s2D video clips was .74 and .5, respectively (P = .0053). AUC for experts and novices with 2D+3D was .70 (compared with s2D: P = .245) and .57 (compared s2D: P = .049), respectively. AUC for experts and novices with 2D+3D was similar (P = .1846). The interobserver agreement was good for both experts and novices with the s2D (k = .71 and .54, respectively) and the 2D+3D video clips (k = .58 in both groups). LIMITATIONS: Few, short video clips; fixed angle of 3D reconstruction. CONCLUSIONS: The adjunction of a 3D reconstruction to the s2D video reading platform does not improve the performance of expert SBCE readers, although it significantly increases the performance of novices in distinguishing masses from bulging.


Asunto(s)
Endoscopía Capsular/métodos , Interpretación de Imagen Asistida por Computador , Imagenología Tridimensional/estadística & datos numéricos , Enfermedades Intestinales/patología , Intestino Delgado/patología , Estudios de Cohortes , Intervalos de Confianza , Diagnóstico Diferencial , Femenino , Humanos , Enfermedades Intestinales/diagnóstico , Neoplasias Intestinales/diagnóstico , Neoplasias Intestinales/patología , Masculino , Variaciones Dependientes del Observador , Curva ROC , Sensibilidad y Especificidad , Grabación en Video
14.
Endoscopy ; 46(12): 1116-8, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25208029

RESUMEN

Esophageal capsule endoscopy (ECE) is considered to be an alternative to conventional esophagogastroduodenoscopy (EGD); however, its indications continue to expand. This report presents results from the use of ECE in patients with hemophilia at a tertiary referral academic center over a 7-year period. A total of 16 patients with hemophilia, who were all at risk of new-variant Creutzfeldt-Jakob disease due to previous treatment with UK plasma-derived pooled blood products, underwent a total of 28 ECE examinations. Main outcomes were the diagnostic yield of ECE, requirement for subsequent conventional EGD, and any variceal bleeding episodes during the follow-up period. The overall diagnostic yield was 67.8 % (19 /28 ECEs). Only one patient underwent conventional EGD, for esophageal biopsies. There were no variceal hemorrhage events in any of the patients on variceal screening follow-up. ECE is a useful and acceptable alternative to conventional endoscopy in selected patient groups (i. e. patients with hemophilia). In this group, ECE can eliminate the need for prior administration of clotting factors.


Asunto(s)
Endoscopía Capsular/métodos , Várices Esofágicas y Gástricas/diagnóstico , Hemorragia Gastrointestinal/prevención & control , Hemofilia A/complicaciones , Adulto , Anciano , Várices Esofágicas y Gástricas/complicaciones , Esofagoscopía/efectos adversos , Femenino , Hemorragia Gastrointestinal/etiología , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos
15.
J Anal Toxicol ; 2024 Apr 22.
Artículo en Inglés | MEDLINE | ID: mdl-38648400

RESUMEN

The Tennessee Bureau of Investigation (TBI) serves all 95 counties of Tennessee, but the data included in this article is primarily focused in upper east and east Tennessee (the parts of the state included in the eastern time zone). The forensic chemistry [seized drug] unit of the TBI began reporting nitazene analogues in late 2019. The primary analogues found in forensic chemistry cases were isotonitazene and metonitazene. After discussion and review of reporting statistics, the forensic toxicology unit began to monitor for these compounds in toxicology samples by using ions characteristic with the nitazene analogues. Between March 2021 and December 2023, TBI toxicology received 49,639 cases statewide. Of those, 20,105 (40.5%) received toxicology testing. Approximately 95% of TBI toxicology cases are related to DUI/motor vehicle related incidents. Fatal overdoses and cases from the medical examiner office comprise less than 5% of TBI toxicology caseload. The toxicology section utilizes the SCIEX 3200 Qtrap with a SCIEX Exion LC AC autosampler system to monitor MRM transition of nitazene analogues. The ion monitoring for two nitazene analogues, isotonitazene and metonitazene, started in March of 2021. Ion monitoring should not be construed as a confirmed result but rather as an indication that a drug may be present. A comparison of this data from the forensic toxicology and forensic chemistry units revealed the rise of new drugs that required a more in-depth review to understand the magnitude and scope. This article is also intended to encourage collaboration between forensic toxicology and forensic chemistry [seized drug] units.

16.
BMJ Open ; 14(6): e080746, 2024 Jun 04.
Artículo en Inglés | MEDLINE | ID: mdl-38834317

RESUMEN

INTRODUCTION: Autism is a common neurodevelopmental condition with a complex genetic aetiology that includes contributions from monogenic and polygenic factors. Many autistic people have unmet healthcare needs that could be served by genomics-informed research and clinical trials. The primary aim of the European Autism GEnomics Registry (EAGER) is to establish a registry of participants with a diagnosis of autism or an associated rare genetic condition who have undergone whole-genome sequencing. The registry can facilitate recruitment for future clinical trials and research studies, based on genetic, clinical and phenotypic profiles, as well as participant preferences. The secondary aim of EAGER is to investigate the association between mental and physical health characteristics and participants' genetic profiles. METHODS AND ANALYSIS: EAGER is a European multisite cohort study and registry and is part of the AIMS-2-TRIALS consortium. EAGER was developed with input from the AIMS-2-TRIALS Autism Representatives and representatives from the rare genetic conditions community. 1500 participants with a diagnosis of autism or an associated rare genetic condition will be recruited at 13 sites across 8 countries. Participants will be given a blood or saliva sample for whole-genome sequencing and answer a series of online questionnaires. Participants may also consent to the study to access pre-existing clinical data. Participants will be added to the EAGER registry and data will be shared externally through established AIMS-2-TRIALS mechanisms. ETHICS AND DISSEMINATION: To date, EAGER has received full ethical approval for 11 out of the 13 sites in the UK (REC 23/SC/0022), Germany (S-375/2023), Portugal (CE-085/2023), Spain (HCB/2023/0038, PIC-164-22), Sweden (Dnr 2023-06737-01), Ireland (230907) and Italy (CET_62/2023, CEL-IRCCS OASI/24-01-2024/EM01, EM 2024-13/1032 EAGER). Findings will be disseminated via scientific publications and conferences but also beyond to participants and the wider community (eg, the AIMS-2-TRIALS website, stakeholder meetings, newsletters).


Asunto(s)
Trastorno Autístico , Genómica , Sistema de Registros , Secuenciación Completa del Genoma , Humanos , Europa (Continente) , Trastorno Autístico/genética , Estudios de Cohortes , Estudios Multicéntricos como Asunto , Proyectos de Investigación , Niño , Masculino
17.
Bioorg Med Chem ; 21(22): 7004-10, 2013 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-24100156

RESUMEN

Post-translational modifications act as 'on' or 'off' switches causing downstream changes in gene transcription. Modifications such as trimethylation of lysine 27 on histone H3 (H3K27me3) cause repression of transcription and stable gene silencing, and its presence is associated with aggressive cancers of many types. We report here macrocyclic host-type compounds that can bind H3K27me3 preferentially over unmethylated H3K27, and characterize their binding affinities and selectivities using a convenient dye-displacement method. We also show that they can disrupt the protein-protein interaction of H3K27me3 with the chromobox homolog 7 (CBX7), a methyllysine reader protein, using fluorescence polarization. These results show that sub-micromolar potencies are achievable with this family of host compounds, and suggest the possibility of their use as new tools to induce the disruption of methyllysine-mediated protein-protein interactions and to report on lysine methylation in vitro.


Asunto(s)
Histonas/metabolismo , Complejo Represivo Polycomb 1/metabolismo , Receptores Artificiales/síntesis química , Calixarenos/síntesis química , Calixarenos/química , Calixarenos/metabolismo , Polarización de Fluorescencia , Histonas/química , Humanos , Cinética , Metilación , Fenoles/síntesis química , Fenoles/química , Fenoles/metabolismo , Complejo Represivo Polycomb 1/química , Dominios y Motivos de Interacción de Proteínas , Procesamiento Proteico-Postraduccional , Receptores Artificiales/química , Receptores Artificiales/metabolismo
18.
Autism ; : 13623613231205630, 2023 Oct 16.
Artículo en Inglés | MEDLINE | ID: mdl-37842827

RESUMEN

LAY ABSTRACT: What do we already know?Autistic people are more likely to have negative life experiences than non-autistic people, from bullying and ostracization, to being victims of crime, to unemployment and homelessness. This includes being victims of intimate partner violence, sexual assault and domestic abuse. Quantitative work has suggested that as many as 90% of autistic people experience these forms of abuse in some form during their lives, but there is little work asking them to talk about harmful relationships in their own words.What does this article add?This article reports on interviews with 24 autistic adults about their experiences of being victims of intimate partner violence, sexual assault and/or domestic abuse. Some of the themes which came from these interviews are shared with non-autistic victims, but others appeared unique to autistic people. One of these was evidence for unique autism-related vulnerabilities, as well as the impact the abuse had on their relationships long term. Participants also talked about how the sex and relationship education they had received had inadequately prepared them for adult relationships, and how this had contributed to their struggle to recognize and react to abusive behaviour.Implications for practice, research and policyPolicies around intimate partner violence and sexual assault need to be updated to account for the different ways in which neurodivergent people (people whose brains process information differently from the majority) may discuss their experiences, rather than looking for 'standard narratives' as an indicator of a need for support. Relationship and sex education should be tailored for autistic young people to help them recognize abusive behaviours, and include how to respond to these safely. We recommend that future research tries to focus specifically on the abuse experiences of autistic men, non-binary and trans people, who have been under-represented in studies to date. In addition, much less is known about the abuse experiences of autistic people of colour or autistic people with intellectual disabilities, who also need to be actively included in these discussions.

19.
J Commun Disord ; 102: 106315, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36822146

RESUMEN

INTRODUCTION: Culturally and linguistically diverse families who have children with complex communication needs (CCN) often have limited access to augmentative and alternative communication (AAC) devices and interventions due to the lack of services that acknowledge their families' cultural and linguistic needs. Despite the increasing need for culturally responsive services, little is known about Chinese-English speaking families' perspectives and experience related to AAC use and services. The objective of this study was to understand the perspectives and experiences of Chinese-English speaking family members of children who use AAC use. METHODS: This study employs a qualitative descriptive methodology approach. The researchers conducted individual or group semi-structured interviews with 10 adult family members (mother, father, and grandparent) from four Chinese-English speaking families in the U.S. and Canada who have a child who uses AAC (ages 3-8). RESULTS: Chinese-English speaking families have high acceptance and satisfaction with their child's AAC as long as they see the benefits of the AAC system. Mothers and siblings play unique roles in supporting home AAC practice given frequent engagement with and observed influence on the child who uses AAC. Family members indicated goals in building stronger family connections, but noted that the child's speech difficulties interfered with this goal. Chinese-English speaking families felt they can overcome limitations resulting from lower English language proficiency, but still find difficulties in obtaining resources because of the Western expectations of advocacy. Additionally, service providers' lack of responsiveness related to family goals could prevent families in obtaining AAC resources. CONCLUSIONS: The findings suggest the need for family-centered services with cultural sensitivity and humility for those serving Chinese-English speaking families with children who use AAC. Additionally, involving family members beyond the mother within services may improve both family functioning and child communication.


Asunto(s)
Equipos de Comunicación para Personas con Discapacidad , Trastornos de la Comunicación , Adulto , Femenino , Humanos , Niño , Preescolar , Pueblos del Este de Asia , Lenguaje , Madres , Comunicación , Emociones
20.
Autism ; : 13623613231202432, 2023 Oct 26.
Artículo en Inglés | MEDLINE | ID: mdl-37882480

RESUMEN

LAY ABSTRACT: Large randomised controlled trials are used to test healthcare treatments. Yet there are no large randomised controlled trials on effective treatments for common mental health issues affecting autistic adults. The purpose of this study was to learn what autistic adults think about randomised controlled trials in preparation for a randomised controlled trial testing a medication for anxiety. This means we wanted to know their opinions about the way randomised controlled trials are done, such as how people are chosen to be in the study and how the study is carried out. We did this by talking to 49 autistic adults individually and asking them questions. We found that most of the people we talked to were okay with the way randomised controlled trials are done. They thought it was fair and they liked that it was based on evidence. However, some autistic people might find it hard to take part in randomised controlled trials. Some people did not like the uncertainty of not knowing what treatment they would receive in a randomised controlled trial. Others felt too vulnerable and may have had bad experiences with healthcare in the past. We found that it is important to involve autistic people early on and at every stage when designing a clinical trial. Care about how clear and precise the study communication is will build trust and improve access to research. Our study indicates that it is possible to conduct large randomised controlled trials with and for autistic people. This can ultimately contribute to the improvement of healthcare outcomes for this population.

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