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1.
Nature ; 615(7951): 259-264, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36890371

RESUMEN

Remarkable perturbations in the stratospheric abundances of chlorine species and ozone were observed over Southern Hemisphere mid-latitudes following the 2020 Australian wildfires1,2. These changes in atmospheric chemical composition suggest that wildfire aerosols affect stratospheric chlorine and ozone depletion chemistry. Here we propose that wildfire aerosol containing a mixture of oxidized organics and sulfate3-7 increases hydrochloric acid solubility8-11 and associated heterogeneous reaction rates, activating reactive chlorine species and enhancing ozone loss rates at relatively warm stratospheric temperatures. We test our hypothesis by comparing atmospheric observations to model simulations that include the proposed mechanism. Modelled changes in 2020 hydrochloric acid, chlorine nitrate and hypochlorous acid abundances are in good agreement with observations1,2. Our results indicate that wildfire aerosol chemistry, although not accounting for the record duration of the 2020 Antarctic ozone hole, does yield an increase in its area and a 3-5% depletion of southern mid-latitude total column ozone. These findings increase concern2,12,13 that more frequent and intense wildfires could delay ozone recovery in a warming world.


Asunto(s)
Aerosoles , Cloro , Pérdida de Ozono , Ozono , Incendios Forestales , Aerosoles/efectos adversos , Aerosoles/análisis , Aerosoles/química , Australia , Cloro/análisis , Cloro/química , Ácido Clorhídrico/química , Ozono/análisis , Ozono/química , Calentamiento Global
2.
Nature ; 595(7865): 43-47, 2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-34194022

RESUMEN

Atomic clocks, which lock the frequency of an oscillator to the extremely stable quantized energy levels of atoms, are essential for navigation applications such as deep space exploration1 and global navigation satellite systems2, and are useful tools with which to address questions in fundamental physics3-6. Such satellite systems use precise measurement of signal propagation times determined by atomic clocks, together with propagation speed, to calculate position. Although space atomic clocks with low instability are an enabling technology for global navigation, they have not yet been applied to deep space navigation and have seen only limited application to space-based fundamental physics, owing to performance constraints imposed by the rigours of space operation7. Methods of electromagnetically trapping and cooling ions have revolutionized atomic clock performance8-13. Terrestrial trapped-ion clocks operating in the optical domain have achieved orders-of-magnitude improvements in performance over their predecessors and have become a key component in national metrology laboratory research programmes13, but transporting this new technology into space has remained challenging. Here we show the results from a trapped-ion atomic clock operating in space. On the ground, NASA's Deep Space Atomic Clock demonstrated a short-term fractional frequency stability of 1.5 × 10-13/τ1/2 (where τ is the averaging time)14. Launched in 2019, the clock has operated for more than 12 months in space and demonstrated there a long-term stability of 3 × 10-15 at 23 days (no drift removal), and an estimated drift of 3.0(0.7) × 10-16 per day. Each of these exceeds current space clock performance by up to an order of magnitude15-17. The Deep Space Atomic Clock is particularly amenable to the space environment because of its low sensitivity to variations in radiation, temperature and magnetic fields. This level of space clock performance will enable one-way navigation in which signal delay times are measured in situ, making near-real-time navigation of deep space probes possible18.

3.
Reprod Domest Anim ; 59(1): e14501, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37975255

RESUMEN

A mobile phone app was used by 59 veterinary practitioners to collect case histories and images of 191 cattle with congenital defects distributed nationally over a 3-year period. The majority of cases were recorded during the spring calving season (57.6%) in pluriparous dairy dams. The majority of calves were recorded at birth or within the first week (66.5%) in singletons born at full-term. On the majority of farms (75.9%), this was the only congenitally deformed bovine recorded up to that point in the year and on the majority of farms, there were no congenitally deformed cattle recorded in the previous 5 years. The majority of congenital defects (83.5%) were recorded in the musculoskeletal or digestive systems. The three most commonly recorded individual defects were intestinal atresia (24.1%), schistosomus reflexus (20.4%) and ankylosis (6.8%); multiple defects were recorded in 13.1% of cases. These findings highlight the relatively high prevalence of intestinal atresia and schistosomus reflexus in calves attended by veterinary practitioners, which warrants implementation of preventive measures. The project highlights the potential benefits of veterinary-practitioner apps to detect changing trends in endemic, or the emergence of novel, congenital or other conditions.


Asunto(s)
Enfermedades de los Bovinos , Atresia Intestinal , Animales , Bovinos , Atresia Intestinal/veterinaria , Enfermedades de los Bovinos/epidemiología
4.
Clin Radiol ; 78(11): 804-811, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-36031431

RESUMEN

This paper discusses the introduction, development and utility of post-mortem imaging relating specifically to conflict-related and terrorist-related deaths and considers the use of computed tomography (CT) in the investigations. We demonstrate how a multi-disciplinary approach involving direct communication between forensic pathologist and radiologist can maximise evidential yield, reduce the need for unnecessary dissection and further our understanding of such injuries. This summarises our shared experience of hundreds of cases, each having been individually discussed and reviewed, and has helped shape our understanding of conflict injury as well as contributing to the development of mitigation strategies and adaptations to protective equipment. A series of clinical cases are presented to demonstrate some of the strengths and weaknesses of the process.

5.
Clin Radiol ; 78(12): 947-954, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-37718182

RESUMEN

AIM: To determine the proportion of computed tomography (CT) coronary angiography (CTCA) referrals with coronary artery calcification (CAC) evident on previous non-cardiac CT imaging and how this impacted the diagnostic yield for CTCA, the requirement for additional diagnostic testing, and the associated costs to confirm or refute obstructive coronary artery disease (CAD). MATERIALS AND METHODS: A retrospective review of CTCA examinations was undertaken between 01/05/2018 and 31/05/2020 in which the examinations were cross referenced for previous non-gated thoracic CT at Royal United Hospitals Bath. Major epicardial vessel CAC on baseline CT was re-evaluated by published semi-quantitative methods, giving a per-patient CAC score (mild = 1-3, moderate = 4-6, severe >6). Subsequent incomplete CTCA diagnostic yield, further testing, and cost implications were examined. RESULTS: Of the 2140 CTCA examinations identified, 13% (280/2140) had a preceding non-gated thoracic CT (53% female, age 63 ± 11 years). The incomplete diagnostic rate increased with CAC grade, mild 32%, (RR 12; 95% CI 4-40), moderate 64% (RR 25; 95% CI 8-80), severe 75%, (RR 29; 95% CI 9-94). Additional diagnostic testing occurred in 4% for the mild CAC category, and 14% and 42% for moderate and severe, respectively. When severe CAC was identified on a non-gated thoracic CT a cost saving of £171/patient (dobutamine stress echo [DSE]) and £61/patient (myocardial perfusion scintigraphy [MPS]) was established with a direct to functional testing pathway. CONCLUSIONS: In patients referred for CTCA where severe CAC was identified on a preceding non-gated thoracic CT a direct to functional testing altered management in 42% of cases and was cost-effective.


Asunto(s)
Enfermedad de la Arteria Coronaria , Humanos , Femenino , Persona de Mediana Edad , Anciano , Masculino , Angiografía Coronaria/métodos , Valor Predictivo de las Pruebas , Enfermedad de la Arteria Coronaria/diagnóstico por imagen , Tomografía Computarizada por Rayos X/métodos , Angiografía por Tomografía Computarizada/métodos
6.
Clin Radiol ; 78(6): 412-420, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-36935258

RESUMEN

AIMS: Guidelines have recommended reporting coronary artery calcification (CAC) if present on chest CT imaging regardless of indication. This study assessed CAC prevalence, prognosis and the potential clinical impact of its reporting. METHODS: We performed a single-centre retrospective analysis (January-December 2015) of 1400 chest CTs (200 consecutive within each age group: <40, 40-49, 50-59, 60-69, 70-79, 80-89, ≥90). CTs were re-reviewed for CAC presence and severity and excluded if prior coronary intervention. Comorbidities, statin prescription and clinical outcomes (myocardial infarction [MI], stroke, all-cause mortality) were recorded. The impact of reporting CAC was assessed against pre-existing statin prescriptions. RESULTS: 1343 patients were included (mean age 63±20 years, 56% female). Inter- and intra-observer variability for CAC presence at re-review was almost perfect (κ 0.89, p < 0.001; κ 0.90, p < 0.001) and for CAC grading was substantial and almost perfect (κ 0.68, p < 0.001; κ 0.91, p < 0.001). CAC was observed in 729/1343 (54%), more frequently in males (p < 0.001) and rising age (p < 0.001). A high proportion of patients with CAC in all age groups had no prior statin prescription (range: 42% [80-89] to 100% [<40]). The 'number needed to report' CAC presence to potentially impact management across all ages was 2. 689 (51%) patients died (median follow-up 74-months). CAC presence was associated with risk of MI, stroke and all-cause mortality (p < 0.001). After adjusting for confounders, severe calcification predicted risk of all-cause mortality (HR 1.8 [1.2-2.5], p = 0.002). CONCLUSION: Grading of CAC was reproducible, and although prevalence rose with age, prognostic and treatment implications were maintained in all ages.


Asunto(s)
Enfermedad de la Arteria Coronaria , Inhibidores de Hidroximetilglutaril-CoA Reductasas , Infarto del Miocardio , Accidente Cerebrovascular , Calcificación Vascular , Masculino , Humanos , Femenino , Adulto , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Pronóstico , Estudios Retrospectivos , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , Vasos Coronarios , Factores de Riesgo , Medición de Riesgo/métodos , Calcificación Vascular/complicaciones , Enfermedad de la Arteria Coronaria/complicaciones , Tomografía Computarizada por Rayos X/métodos , Accidente Cerebrovascular/complicaciones
7.
Occup Med (Lond) ; 73(7): 439-445, 2023 10 20.
Artículo en Inglés | MEDLINE | ID: mdl-37862450

RESUMEN

BACKGROUND: Sleep disturbance in UK Armed Forces personnel appears to be frequent due to factors such as hostile sleeping environments and can persist even once they have transitioned into civilian life. Despite this, there is currently very limited literature surrounding the prevalence and associated factors of insomnia disorder among UK veterans. AIMS: This study aimed to expand knowledge of the prevalence and associated demographic, military, health and functional outcomes with probable insomnia disorder within a clinical sample of veterans. METHODS: Treatment-seeking veterans from a national UK mental health charity were invited to complete a questionnaire including socio-demographic, military, health and well-being questions. RESULTS: Of the sample, 489 (43%) completed the questionnaire. Seventy per cent of the sample reported having probable insomnia disorder. Having probable insomnia disorder was significantly associated with being younger and having physical health problems. Moreover, unadjusted models found associations between probable insomnia disorder and common mental health difficulties, obsessive-compulsive disorder and complex post-traumatic stress disorder. CONCLUSIONS: The results suggest that many UK veterans with physical and mental health difficulties experience co-morbid insomnia disorder. Therefore, it is important that clinical services are aware of this prevalence and use targeted interventions to reduce the frequency of insomnia disorder in this population.


Asunto(s)
Personal Militar , Trastornos del Inicio y del Mantenimiento del Sueño , Trastornos del Sueño-Vigilia , Trastornos por Estrés Postraumático , Veteranos , Humanos , Veteranos/psicología , Trastornos del Inicio y del Mantenimiento del Sueño/epidemiología , Personal Militar/psicología , Trastornos por Estrés Postraumático/complicaciones , Trastornos por Estrés Postraumático/epidemiología , Trastornos por Estrés Postraumático/psicología , Trastornos del Sueño-Vigilia/epidemiología , Resultado del Tratamiento
8.
Respir Res ; 23(1): 58, 2022 Mar 14.
Artículo en Inglés | MEDLINE | ID: mdl-35287677

RESUMEN

BACKGROUND: Unfortunately, many COPD patients continue to exacerbate despite good adherence to GOLD Class D recommended therapy. Acute exacerbations lead to an increase in symptoms, decline in lung function and increased mortality rate. The purpose of this review is to do a literature search for any prophylactic anti-microbial treatment trials in GOLD class D patients who 'failed' recommended therapy and discuss the role of COPD phenotypes, lung and gut microbiota and co-morbidities in developing a tailored approach to anti-microbial therapies for high frequency exacerbators. MAIN TEXT: There is a paucity of large, well-conducted studies in the published literature to date. Factors such as single-centre, study design, lack of well-defined controls, insufficient patient numbers enrolled and short follow-up periods were significant limiting factors in numerous studies. One placebo-controlled study involving more than 1000 patients, who had 2 or more moderate exacerbations in the previous year, demonstrated a non-significant reduction in exacerbations of 19% with 5 day course of moxifloxacillin repeated at 8 week intervals. In Pseudomonas aeruginosa (Pa) colonised COPD patients, inhaled antimicrobial therapy using tobramycin, colistin and gentamicin resulted in significant reductions in exacerbation frequency. Viruses were found to frequently cause acute exacerbations in COPD (AECOPD), either as the primary infecting agent or as a co-factor. However, other, than the influenza vaccination, there were no trials of anti-viral therapies that resulted in a positive effect on reducing AECOPD. Identifying clinical phenotypes and co-existing conditions that impact on exacerbation frequency and severity is essential to provide individualised treatment with targeted therapies. The role of the lung and gut microbiome is increasingly recognised and identification of pathogenic bacteria will likely play an important role in personalised antimicrobial therapies. CONCLUSION: Antimicrobial therapeutic options in patients who continue to exacerbate despite adherence to guidelines-directed therapy are limited. Phenotyping patients, identification of co-existing conditions and assessment of the microbiome is key to individualising antimicrobial therapy. Given the impact of viruses on AECOPD, anti-viral therapeutic agents and targeted anti-viral vaccinations should be the focus of future research studies.


Asunto(s)
Antiinfecciosos/uso terapéutico , Enfermedad Pulmonar Obstructiva Crónica/tratamiento farmacológico , Líquido del Lavado Bronquioalveolar/microbiología , Humanos , Microbiota , Nebulizadores y Vaporizadores , Prevención Secundaria
9.
BMC Med Res Methodol ; 22(1): 229, 2022 08 16.
Artículo en Inglés | MEDLINE | ID: mdl-35971088

RESUMEN

An increasing number of large-scale multi-modal research initiatives has been conducted in the typically developing population, e.g. Dev. Cogn. Neur. 32:43-54, 2018; PLoS Med. 12(3):e1001779, 2015; Elam and Van Essen, Enc. Comp. Neur., 2013, as well as in psychiatric cohorts, e.g. Trans. Psych. 10(1):100, 2020; Mol. Psych. 19:659-667, 2014; Mol. Aut. 8:24, 2017; Eur. Child and Adol. Psych. 24(3):265-281, 2015. Missing data is a common problem in such datasets due to the difficulty of assessing multiple measures on a large number of participants. The consequences of missing data accumulate when researchers aim to integrate relationships across multiple measures. Here we aim to evaluate different imputation strategies to fill in missing values in clinical data from a large (total N = 764) and deeply phenotyped (i.e. range of clinical and cognitive instruments administered) sample of N = 453 autistic individuals and N = 311 control individuals recruited as part of the EU-AIMS Longitudinal European Autism Project (LEAP) consortium. In particular, we consider a total of 160 clinical measures divided in 15 overlapping subsets of participants. We use two simple but common univariate strategies-mean and median imputation-as well as a Round Robin regression approach involving four independent multivariate regression models including Bayesian Ridge regression, as well as several non-linear models: Decision Trees (Extra Trees., and Nearest Neighbours regression. We evaluate the models using the traditional mean square error towards removed available data, and also consider the Kullback-Leibler divergence between the observed and the imputed distributions. We show that all of the multivariate approaches tested provide a substantial improvement compared to typical univariate approaches. Further, our analyses reveal that across all 15 data-subsets tested, an Extra Trees regression approach provided the best global results. This not only allows the selection of a unique model to impute missing data for the LEAP project and delivers a fixed set of imputed clinical data to be used by researchers working with the LEAP dataset in the future, but provides more general guidelines for data imputation in large scale epidemiological studies.


Asunto(s)
Trastorno Autístico , Trastorno Autístico/genética , Teorema de Bayes , Niño , Recolección de Datos/métodos , Humanos
10.
AIDS Behav ; 26(8): 2692-2702, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35132480

RESUMEN

Successful use of biomedical forms of HIV risk-reduction may have predisposed many gay and bisexual men (GBM) to vaccination against COVID-19, which may, in turn, affect their sexual behavior. A total of 622 Australian GBM provided weekly data on COVID-19 vaccination history and sexual behaviour between 17 January 2021 and 22 June 2021. We identify factors associated with COVID-19 vaccination, and compare sexual behavior before and since vaccination. Mean age was 47.3 years (SD 14.0). At least one-dose vaccination coverage had reached 57.2%, and 61.3% reported that the majority of their friends intended to be vaccinated. Vaccinated men reported a mean of 1.11 (SD 2.10) weekly non-relationship sex partners before vaccination and 1.62 (SD 3.42) partners following vaccination. GBM demonstrated high confidence in COVID-19 vaccines. Their sexual activity increased following vaccination suggesting that greater sexual freedom may be a specific motivation for vaccine uptake among some men.


Asunto(s)
COVID-19 , Infecciones por VIH , Minorías Sexuales y de Género , Australia/epidemiología , Bisexualidad , COVID-19/epidemiología , COVID-19/prevención & control , Vacunas contra la COVID-19 , Infecciones por VIH/epidemiología , Infecciones por VIH/prevención & control , Homosexualidad Masculina , Humanos , Masculino , Persona de Mediana Edad , Conducta Sexual , Parejas Sexuales
11.
J Asthma ; 59(6): 1177-1180, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-33902374

RESUMEN

Common variable immunodeficiency is characterized by impaired B-cell differentiation and defective immunoglobulin production manifesting as recurrent respiratory tract infections. While the condition can masquerade as asthma, late diagnosis of CVID in known asthmatic is rarely reported.We present the case of a 43-year-old lady with recurrent episodes of wheeze, cough, sinusitis and multiple lower respiratory tract infections. Transiently responsive to antibiotics and steroids. These episodes had been occurring for many years and she had a longstanding clinical diagnosis of asthma.As part of her work up for recurrent respiratory tract infections a CT thorax was performed and demonstrated bronchiectasis. Further tests including Immunoglobulin levels revealed critically low IgG, IgM, and IgA levels. Immunoglobulin replacement therapy was commenced with a reduction in exacerbation frequency and severity, and objective improvement of asthma control. Subsequent lung function tests demonstrated reversible airflow limitation (obstructive lung function with 13% reversibility in FEV1 post-bronchodilator) consistent with asthma.Our case illustrates the importance of searching for alternate and co-existent diagnoses in patients diagnosed with asthma who are unresponsive to conventional therapy. We believe that serum immunoglobulin measurement should form a component of such a workup.


Asunto(s)
Asma , Bronquiectasia , Inmunodeficiencia Variable Común , Infecciones del Sistema Respiratorio , Adulto , Asma/complicaciones , Asma/diagnóstico , Inmunodeficiencia Variable Común/complicaciones , Inmunodeficiencia Variable Común/diagnóstico , Inmunodeficiencia Variable Común/terapia , Femenino , Humanos , Inmunoglobulinas , Infecciones del Sistema Respiratorio/complicaciones
12.
BMC Med Educ ; 22(1): 595, 2022 Aug 02.
Artículo en Inglés | MEDLINE | ID: mdl-35918716

RESUMEN

OBJECTIVE: To evaluate the use of 3-D printed models as compared to didactic lectures in the teaching of acetabular fractures for Orthopaedic trainees. METHODS: This was a randomised prospective study conducted in a tertiary hospital setting which consisted of 16 Orthopaedic residents. Ten different cases of acetabular fracture patterns were identified and printed as 3-D models. The baseline knowledge of orthopaedic residents regarding acetabular fracture classification and surgical approach was determined by an x-ray based pre-test. Trainees were then randomly assigned into two groups. Group I received only lectures. Group II were additionally provided with 3-D printed models during the lecture. Participants were then assessed for comprehension and retention of teaching. RESULTS: Sixteen trainees participated in the trial. Both Group 1 and 2 improved post teaching with a mean score of 2.5 and 1.9 to 4.4 and 6 out of 10 respectively. The post test score for fracture classification and surgical approach were significantly higher for 3-D model group (p < 0.05). Trainees felt that the physical characteristics of the 3-D models were a good representation of acetabular fracture configuration, and should be used routinely for teaching and surgical planning. CONCLUSION: 3-D printed model of real clinical cases have significant educational impact compared to lecture-based learning towards improving young trainees' understanding of complex acetabular fractures.


Asunto(s)
Fracturas Óseas , Ortopedia , Acetábulo/diagnóstico por imagen , Acetábulo/cirugía , Fracturas Óseas/diagnóstico por imagen , Fracturas Óseas/cirugía , Humanos , Ortopedia/educación , Impresión Tridimensional , Estudios Prospectivos
13.
Br J Surg ; 108(10): 1145-1148, 2021 10 23.
Artículo en Inglés | MEDLINE | ID: mdl-33954642

RESUMEN

BACKGROUND: Face transplantation is a surgical innovation to manage people with severely interrupted facial function and form. How the public perceive face transplantation and its potential implications for the recipient, donor, and society is unclear. The aim of this study was to understand the public perception of face transplantation, including when it is appropriate, what information is required to feel adequately informed, and which factors influence a person's willingness to donate their face. METHODS: This was a nationwide survey of participants representative of the GB public. A quantitative analysis was performed. Free-text qualitative responses were coded with thematic content analysis and a narrative analysis was constructed. RESULTS: The survey included 2122 participants. Face transplantation was considered worth the potential risks if it improved an individual's quality of life, gave them a 'normal life', and/or increased their confidence and social interaction. Respondents were worried about the impact face transplantation might have on donor families, especially recipient families adapting to the identity of the donor. Respondents most concerned about the concept of face transplantation were aged at least 55 years (χ2(4) = 38.9, P < 0.001), women (χ2(1) = 19.8, P < 0.001) , and Indian/Asian (χ2(4) = 11.9, P = 0.016). CONCLUSION: The public perceive emotional and psychological outcomes as equally as important as, or more important than, surgical outcomes when determining the appropriateness of face transplantation. Future research should focus on measuring and describing emotional and psychological outcomes after face transplantation.


Asunto(s)
Emociones , Trasplante Facial/psicología , Opinión Pública , Calidad de Vida , Adolescente , Adulto , Factores de Edad , Estudios Transversales , Etnicidad , Familia , Femenino , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo , Autoimagen , Factores Sexuales , Interacción Social , Donantes de Tejidos/psicología , Adulto Joven
14.
Proc Natl Acad Sci U S A ; 115(52): 13192-13197, 2018 12 26.
Artículo en Inglés | MEDLINE | ID: mdl-30559187

RESUMEN

Different regions of the world have had different historical patterns of emissions of carbon dioxide, other greenhouse gases, and aerosols as well as different land-use changes. One can estimate the net cumulative contribution by each region to the global mean radiative forcing due to past greenhouse gas emissions, aerosol precursors, and carbon dioxide from land-use changes. Several patterns stand out from such calculations. Some regions have had a common historical pattern in which the short-term offsets between the radiative forcings from carbon dioxide and sulfate aerosols temporarily led to near-zero radiative forcing during periods of exponential emissions growth with few emission controls. This happened for North America and Europe in the mid-20th century and China in the 1990s and 2000s. However, these same periods lead to a commitment to future radiative forcing from the carbon dioxide and other greenhouse gases that stay in the atmosphere long after the aerosols. For every region, this commitment to future radiative forcing (2018-2100) from emissions already in the atmosphere is larger than the cumulative radiative forcing to date (1900-2017). This comparison again highlights how the full radiative forcing from greenhouse gases is unmasked once the aerosol emissions are reduced to improve air quality. The relative contributions from various regions to global climate forcing depends more on the time the contributions are compared (e.g., now or 2100) and future development scenarios than on whether cumulative radiative forcing, ocean heat content, or temperature is used to compare regional contributions.

15.
Cereb Cortex ; 29(8): 3655-3665, 2019 07 22.
Artículo en Inglés | MEDLINE | ID: mdl-30272146

RESUMEN

22q11.2 Deletion Syndrome (22q11.2DS) is a genetic condition associated with a high prevalence of neuropsychiatric conditions that include autism spectrum disorder (ASD). While evidence suggests that clinical phenotypes represent distinct neurodevelopmental outcomes, it remains unknown whether this translates to the level of neurobiology. To fractionate the 22q11.2DS phenotype on the level of neuroanatomy, we examined differences in vertex-wise estimates of cortical volume, surface area, and cortical thickness between 1) individuals with 22q11.2DS (n = 62) and neurotypical controls (n = 57) and 2) 22q11.2DS individuals with ASD symptomatology (n = 30) and those without (n = 25). We firstly observed significant differences in surface anatomy between 22q11.2DS individuals and controls for all 3 neuroanatomical features, predominantly in parietotemporal regions, cingulate and dorsolateral prefrontal cortices. We also established that 22q11.2DS individuals with ASD symptomatology were neuroanatomically distinct from 22q11.2DS individuals without ASD symptoms, particularly in brain regions that have previously been linked to ASD (e.g., dorsolateral prefrontal cortices and the entorhinal cortex). Our findings indicate that different clinical 22q11.2DS phenotypes, including those with ASD symptomatology, may represent different neurobiological subgroups. The spatially distributed patterns of neuroanatomical differences associated with ASD symptomatology in 22q11.2DS may thus provide useful information for patient stratification and the prediction of clinical outcomes.


Asunto(s)
Trastorno del Espectro Autista/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Síndrome de DiGeorge/diagnóstico por imagen , Adolescente , Adulto , Trastorno del Espectro Autista/etiología , Trastorno del Espectro Autista/patología , Trastorno del Espectro Autista/psicología , Encéfalo/patología , Estudios de Casos y Controles , Niño , Síndrome de DiGeorge/complicaciones , Síndrome de DiGeorge/patología , Síndrome de DiGeorge/psicología , Corteza Entorrinal/diagnóstico por imagen , Corteza Entorrinal/patología , Femenino , Giro del Cíngulo/diagnóstico por imagen , Giro del Cíngulo/patología , Humanos , Masculino , Tamaño de los Órganos , Lóbulo Parietal/diagnóstico por imagen , Lóbulo Parietal/patología , Corteza Prefrontal/diagnóstico por imagen , Corteza Prefrontal/patología , Lóbulo Temporal/diagnóstico por imagen , Lóbulo Temporal/patología , Adulto Joven
16.
Tech Coloproctol ; 24(11): 1145-1153, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-32662050

RESUMEN

BACKGROUND: Pelvic exenteration remains a viable and effective treatment option for the management of locally advanced or recurrent pelvic malignancy. The aim of this study was to present an early experience of robotic multivisceral resection of pelvic malignancy, and to compare this experience with similar series through a systematic review of the literature. METHODS: A retrospective study was performed on patients who had robotic-assisted multi-visceral resection for pelvic malignancy at a single Colorectal Surgical unit based between two tertiary academic hospitals. Primary outcomes observed included operation type, operation time, perioperative complications, and hospital length of stay. Secondary outcomes included R0 resection status, lymph node harvest, and rate of recurrence at clinical follow-up. RESULTS: Eight cases of robotic multivisceral resection were performed for primary locally advanced pelvic malignancy involving a rectal resection as part of their operative management. The median age of patients undergoing resection was 56 years (range 29-83 years). The male:female ratio was 6:2. The mean total operating time was 8.3 h (range 6-10 h). Perioperative blood transfusion requirements were minimal. Mean hospital length of stay was 15 days (range 7-26 days). No patients experienced any serious postoperative morbidity or mortality. All patients had clear margins on histological assessment and no patients have recurrence at 12-month follow-up. CONCLUSIONS: Robotic multivisceral resection for malignant disease of the pelvis is a safe and feasible minimally invasive approach in highly selected cases.


Asunto(s)
Exenteración Pélvica , Neoplasias del Recto , Procedimientos Quirúrgicos Robotizados , Robótica , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia/cirugía , Neoplasias del Recto/cirugía , Estudios Retrospectivos , Resultado del Tratamiento
17.
Ir Med J ; 113(6): 103, 2020 06 11.
Artículo en Inglés | MEDLINE | ID: mdl-32816438

RESUMEN

Background Pulmonary embolism (PE) remains a significant cause of mortality in Europe1. Thrombolytic therapy is often utilised as a therapeutic strategy in massive and sub-massive PE. There is a dearth of research on short term complications and subsequent outcomes in patients who have received thrombolysis for PE in Ireland. Methods This retrospective study examined patients who underwent thrombolysis for acute sub massive PE whilst under the care of the respiratory service in Cork University Hospital (CUH) from 2010-2018. All patients had CTPA done for diagnosis of PE. Alteplase was used as a thrombolytic agent. Patient records were perused. Follow-up pulmonary functions tests (PFTs) and trans-thoracic echocardiogram (TTE) results were assessed for evidence of impairment of diffusing capacity (DLCO) and pulmonary hypertension (PH) respectively. Results Twenty five patients were included in the study. Nine patients (36%) were women and 64% men. Average age was 55.1 years. Four patients suffered complications related to thrombolysis (average age 63.3 years). Twenty-Two patients (88%) underwent a follow-up echocardiography (mean 30 weeks post PE). Three patients (13%) had echocardiographic evidence of possible mild PH (i.e. RVSP >40mmhg) at initial follow-up. Fourteen patients (56%) who underwent thrombolysis had follow-up PFTs (mean 11.8 months post PE). The diffusing capacity (DLCO) was normal in all patients. Conclusion Thrombolysis was a relatively safe intervention in this small study.


Asunto(s)
Embolia Pulmonar/terapia , Terapia Trombolítica , Activador de Tejido Plasminógeno/administración & dosificación , Enfermedad Aguda , Adulto , Anciano , Anciano de 80 o más Años , Ecocardiografía , Femenino , Estudios de Seguimiento , Humanos , Irlanda , Masculino , Persona de Mediana Edad , Embolia Pulmonar/diagnóstico por imagen , Estudios Retrospectivos , Terapia Trombolítica/métodos
18.
Respir Res ; 20(1): 289, 2019 Dec 20.
Artículo en Inglés | MEDLINE | ID: mdl-31861993

RESUMEN

BACKGROUND: Increased numbers of blood and sputum eosinophils are associated with higher exacerbation frequency and increased asthma severity. In clinical trials, targeting Interleukin-5 has been shown to be a useful therapeutic strategy for patients with severe eosinophilic asthma. METHODS: Twenty-six patients have been commenced on Reslizumab in our institution since early 2017. Safety and clinical efficacy parameters were recorded at regular intervals. RESULTS: Mean ACQ-6 score at the start of treatment was 3.5. The average number of exacerbations in the year preceding treatment was 8.3 per person. 30% of patients had been admitted to hospital at least once over the 12 months preceding therapy. 54% of our patients were on long term oral steroid. Our data showed sustained improvement of Asthma control (Mean improvement in ACQ-6 was 1.7 at 1 year, and 2.0 at 2 years, P = 0.0001). Of the patients who were on long term systemic steroids, 35.7% discontinued steroids completely, with a mean reduction of prednisolone dose of 5.2 mg at 1 year. There was a 79% reduction in the annual exacerbation frequency at 1 year, and 88% at 2 years (P = < 0.0001). Modest, albeit statistically significant increases in creatine kinase which seemed to plateau by 1 year were noted. CONCLUSIONS: Overall, Reslizumab was well tolerated with discontinuation of treatment due to side effects recorded in only one patient. Our data confirm the utility of anti-IL5 therapy in a carefully selected phenotype of severe asthma with evidence of eosinophilic airway inflammation.


Asunto(s)
Antiasmáticos/uso terapéutico , Anticuerpos Monoclonales Humanizados/uso terapéutico , Asma/diagnóstico , Asma/tratamiento farmacológico , Índice de Severidad de la Enfermedad , Anciano , Antiasmáticos/farmacología , Anticuerpos Monoclonales Humanizados/farmacología , Asma/fisiopatología , Femenino , Flujo Espiratorio Forzado/efectos de los fármacos , Flujo Espiratorio Forzado/fisiología , Humanos , Masculino , Persona de Mediana Edad , Resultado del Tratamiento
19.
World J Urol ; 37(7): 1255-1261, 2019 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-30374609

RESUMEN

The heterogeneity of prostate cancer has made imaging modalities of crucial importance in this disease. Accurate diagnosis and staging of the volume and extent of disease, especially in advanced and metastatic prostate cancer, can help to tailor the timing and modalities of treatment. While MRI has been effective in the detection of significant prostate cancer, its use in the identification and quantification of extraprostatic disease is limited. This gap is now being filled by PSMA PET. PSMA PET scans have now been shown to have a role in all stages in the prostate cancer journey. Emerging evidence has shown its promise in primary staging, restaging and theranostics. In this paper, we review the evidence for the use of PSMA PET in the various stages of prostate cancer, from initial diagnosis to advanced metastatic disease where other systemic treatments have failed.


Asunto(s)
Tomografía Computarizada por Tomografía de Emisión de Positrones , Neoplasias de la Próstata/diagnóstico por imagen , Dipéptidos/uso terapéutico , Isótopos de Galio , Radioisótopos de Galio , Compuestos Heterocíclicos con 1 Anillo/uso terapéutico , Humanos , Lutecio , Masculino , Glicoproteínas de Membrana , Metástasis de la Neoplasia , Compuestos Organometálicos , Antígeno Prostático Específico , Neoplasias de la Próstata/patología , Neoplasias de la Próstata/radioterapia , Neoplasias de la Próstata Resistentes a la Castración/diagnóstico por imagen , Neoplasias de la Próstata Resistentes a la Castración/patología , Neoplasias de la Próstata Resistentes a la Castración/radioterapia , Radiofármacos , Nanomedicina Teranóstica
20.
BJOG ; 126(1): 114-121, 2019 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-30126064

RESUMEN

OBJECTIVE: To assess the effect of admission cardiotocography (ACTG) versus intermittent auscultation (IA) of the fetal heart (FH) in low-risk pregnancy during assessment for possible labour on caesarean section rates. DESIGN: A parallel multicentre randomised trial. SETTING: Three maternity units in the Republic of Ireland. POPULATION: Healthy, low-risk pregnant women, at term and ≥ 18 years old, who provided written informed consent. METHODS: Women were randomised to receive IA of the FH or 20 minutes ACTG on admission for possible labour onset, using remote telephone randomisation. Both groups received IA during labour, with conversion to continuous CTG as clinically indicated. MAIN OUTCOME MEASURES: Caesarean section (primary outcome), obstetric interventions (e.g. continuous CTG during labour, fetal blood sampling, augmentation of labour) and neonatal morbidity (e.g. metabolic acidosis, admission to the neonatal intensive care unit, neonatal death). RESULTS: Based on 3034 women (1513 and 1521 randomised to IA and ACTG, respectively), there was no statistical difference between the groups in caesarean section [130 (8.6%) and 105 (6.9%) for IA and ACTG groups, respectively; relative risk (RR) 1.24; 95% CI 0.97-1.58], or in any other outcome except for use of continuous CTG during labour, which was lower in the IA group (RR 0.90, 95% CI 0.86-0.93). CONCLUSION: Our study demonstrates no differences in obstetric or neonatal outcomes between IA and ACTG for women with possible labour onset, other than an increased risk for continuous CTG in women receiving ACTG. TWEETABLE ABSTRACT: No differences in outcomes between intermittent auscultation and admission cardiotocography for women with possible labour onset.


Asunto(s)
Cardiotocografía , Auscultación Cardíaca , Frecuencia Cardíaca Fetal , Inicio del Trabajo de Parto/fisiología , Adulto , Cesárea/estadística & datos numéricos , Femenino , Humanos , Embarazo , Resultado del Embarazo , Estudios Retrospectivos
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