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Background: Autism spectrum disorders (ASDs) are diagnosed by social communication difficulties strong, narrow interests, and repetitive stereotyped behavior. An apparently-elevated prevalence of ASD at a major UK hemophilia center warranted investigation. Objectives: To screen boys with hemophilia for difficulties in social communication and executive function and identify the prevalence and risk factors for ASD. Methods: Parents of boys with hemophilia aged 5 to 16 years completed the Social Communication Questionnaire, Children's Communication Checklist, and the Behavior Rating Inventory of executive function. Prevalence and potential risk factors for ASD were evaluated. Boys with an existing diagnosis of ASD did not complete questionnaires, but were included in the prevalence analysis. Results: Negative scores on all 3 questionnaires were observed for 60 of 79 boys. Positive scores on 1, 2, and 3 questionnaires were seen in 12 of 79, 3 of 79, and 4 of 79 boys, respectively. In addition to the 11 of 214 boys with a prior ASD diagnosis, 3 further boys were diagnosed with ASD, yielding a prevalence of 14 (6.5%) of 214, greater than that of boys in the UK general population. Premature birth was linked to having ASD, but did not fully explain the increased prevalence with more boys born <37 weeks scoring positively on the Social Communications Questionnaire and Children's Communication Checklist compared with those born at term. Conclusion: This study identified an increased prevalence of ASD at 1 UK hemophilia center. Prematurity was identified as a risk factor but did not fully explain the higher prevalence of ASD. Further investigation in the wider national/global hemophilia communities is warranted to determine whether this is an isolated finding.
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AIM: Cystic ovarian masses in children may be physiological or neoplastic. It is mandatory that suspected neoplastic lesions are resected without tumour spillage. However, a large midline incision is cosmetically unappealing incision to young women. Here we describe our experience of using controlled drainage without spillage that allows a cosmetic pfannenstiel approach without compromising oncological principles. METHOD: All girls treated with large ovarian cystic masses since 2008 in our centre were identified and data was collected prospectively. A small pfannenstiel incision was performed followed by peritoneal washings; tissue glue was used to stick an Opsite™ dressing to the cyst surface and fluid drained so there was no leakage back into the patient. Once aspirated the cyst was delivered and an ovarian preserving cystectomy was performed where possible. RESULTS: Twenty-three girls (median age 14.5 years (8.1 to 16.5 years) were included. Pre-operative MRI scan showed a complex lesions with median volume of 1169 ml (range 252-7077 ml). At surgery 22/23 cysts were intact and removed without spillage. HISTOLOGY: mature teratoma (11), serous cyst (3), mucinous cyst adenocarcinoma (2), mucinous cystadenoma (5), Sertoli-Leydig tumour, sclerosing stromal tumour. One girl with pre-operative rupture of a mucinous adenocarcinoma subsequently died. Ovarian sparing cystectomy was performed in 17/23 girls. All other patients are well without evidence of recurrence. CONCLUSION: This is the largest series in children and adolescents using controlled drainage of cystic ovarian tumours. Though there were a range of diagnoses we have shown that these can be removed safely with a cosmetic pfannenstiel approach while following oncological principles.
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Adenocarcinoma Mucinoso , Cisto Dermoide , Cistos Ovarianos , Neoplasias Ovarianas , Teratoma , Adolescente , Criança , Cisto Dermoide/cirurgia , Feminino , Humanos , Cistos Ovarianos/patologia , Cistos Ovarianos/cirurgia , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/patologia , Neoplasias Ovarianas/cirurgiaRESUMO
Difficulties associated with Autism Spectrum Disorders can cause considerable impact on personal, familial, social, educational and occupational functioning. Living with a child who has an Autism Spectrum Disorder can therefore pose a challenge to family members, including typically developing siblings. However, it is only in recent years that the experience of typically developing siblings has become a focal point. A systematic review using keywords across six databases was undertaken to summarise qualitative studies that focused on the experience of being a sibling of a child with an Autism Spectrum Disorder. Fifteen studies met inclusion criteria and a thematic synthesis was completed. The synthesis found that having a sibling who has an Autism Spectrum Disorder can impact typically developing sibling's self-identity and personal development in a number of ways. Similarly, interactions with the sibling who has Autism Spectrum Disorders and with other individuals can evoke a myriad of experiences that can both benefit and challenge typically developing siblings. The ability of typically developing siblings to cope with adverse experiences needs to remain a focus. This synthesis concludes that further research is needed to identify which methods are the most effective in supporting typically developing siblings of children with Autism Spectrum Disorders.
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Transtorno do Espectro Autista , Irmãos , Adaptação Psicológica , Criança , Humanos , Pesquisa QualitativaRESUMO
BACKGROUND: Performing microsurgery requires a breadth and depth of experience that has arguably been reduced as result of diminishing operating exposure. Fresh frozen cadavers provide similar tissue handling to real-time operating; however, the bloodless condition restricts the realism of the simulation. We describe a model to enhance flap surgery simulation, in conjunction with qualitative assessment. METHODS: The fresh frozen cadaveric limbs used in this study were acquired by the University. A perfused fresh cadaveric model was created using a gelatin and dye mixture in a specific injection protocol in order to increase the visibility and realism of perforating vessels, as well as major vessels. A questionnaire was distributed amongst 50 trainees in order to assess benefit of the model. Specifically, confidence, operative skills, and transferable procedural-based learning were assessed. RESULTS: Training with this cadaveric model resulted in a statistically significant improvement in self-reported confidence (p < 0.005) and prepared trainees for unsupervised bench work (p < 0.005). Respondents felt that the injected model allowed easier identification of vessels and ultimately increased the similarity to real-time operating. Our analysis showed it cost £10.78 and took 30 min. CONCLUSIONS: Perfusion of cadaveric limbs is both cost- and time-effective, with significant improvement in training potential. The model is easily reproducible and could be a valuable resource in surgical training for several disciplines.Level of Evidence: Not ratable.
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AIMS: To compare the effectiveness of varenicline with nicotine replacement for smoking cessation and to evaluate the safety and effectiveness of varenicline in people with mental illness. DESIGN: Evaluation of consecutive routine cases before and after the introduction of varenicline. SETTING: National Health Service (NHS) tobacco dependence clinic in London, UK. PARTICIPANTS: A total of 412 cases receiving routine care. INTERVENTION: Seven group support sessions over 6 weeks with either nicotine replacement therapy (NRT) (n = 204) or varenicline (n = 208). MEASUREMENTS: Verified abstinence 4 weeks after quit day, severity of withdrawal symptoms, incidence and severity of adverse drug symptoms, cost per patient treated and cost per successful short-term quitter. FINDINGS: Short-term cessation rates were higher with varenicline than NRT (odds ratio = 1.70, 95% confidence interval = 1.09-2.67). Varenicline was equally effective in those with and without mental illness. Craving to smoke, but not adverse mood, was less severe with varenicline than NRT. The cost per quitter was similar for varenicline and NRT. There was a higher incidence of adverse drug symptoms among those taking varenicline, but these were tolerated by most smokers. There was no evidence that varenicline exacerbated mental illness. CONCLUSIONS: In this setting and with group support varenicline appears to improve success rates over those achieved with NRT, and is equally effective and safe in those with and without a mental illness.
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Benzazepinas/uso terapêutico , Transtornos Mentais/complicações , Nicotina/uso terapêutico , Agonistas Nicotínicos/uso terapêutico , Quinoxalinas/uso terapêutico , Abandono do Hábito de Fumar/métodos , Tabagismo/reabilitação , Adulto , Estudos de Coortes , Combinação de Medicamentos , Feminino , Seguimentos , Humanos , Londres , Masculino , Pessoa de Meia-Idade , Abandono do Hábito de Fumar/psicologia , Síndrome de Abstinência a Substâncias/tratamento farmacológico , Síndrome de Abstinência a Substâncias/psicologia , Tabagismo/psicologia , Resultado do Tratamento , VareniclinaRESUMO
The influence of the transcriptional enhancer of the pea plastocyanin gene (PetE) on the acetylation of histones was examined with chromatin immunoprecipitation (ChIP) experiments using antibodies that recognize acetylated or nonacetylated histones H3 and H4. In transgenic tobacco plants containing the pea PetE promoter fused to uidA, both acetylated and nonacetylated histones H3 and H4 were present on the integrated transgene. Linking the PetE enhancer to the transgene resulted in increased beta-glucuronidase activity and increased amounts of acetylated histones H3 and H4 present on the promoter, suggesting that the enhancer may increase transcription by mediating the acetylation of histones. Trichostatin A and sodium butyrate, which are potent inhibitors of histone deacetylases (HDAs), activated expression from the PetE promoter by fourfold, with a concomitant increase in the acetylation states of histones H3 and H4, as determined by ChIP, indicating that the acetylation of histones has a direct positive effect on transcription. The HDA inhibitors did not increase expression from the PetE promoter when it was linked to the enhancer, consistent with preexisting hyperacetylated histones on the transgene. Mapping of histone acetylation states along the reporter gene indicated that the histones H3 and H4 associated with the promoter and the 5' region of uidA were hyperacetylated in the presence of the PetE enhancer. The PetE enhancer bound to isolated tobacco nuclear matrices in vitro and was associated with the nuclear matrix in nuclei isolated from transgenic tobacco plants. These results suggest that the pea PetE enhancer activates transcription by associating with the nuclear matrix, mediating the acetylation of histones on the promoter and the nearby coding region and resulting in an altered chromatin structure.