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《Brain & development》2020,42(8):581-586
BackgroundDeletion of 13q13.3 is an extremely rare event.CaseWe report on a 25-month-old girl with neurodevelopmental disorder and intellectual disability. She had dysmorphic facies characterized by synophrys, long and narrow palpebral fissures; and a large, round face with small organs such as the eyes and mouth positioned near the center. She was hypotonic and had autism-like behaviors. Blood tests and brain MRI revealed no specific findings. However, G-banding chromosome analysis showed an apparently balanced translocation: 46,XX,t(7,13)(q11.23;q12.3). Both parents had normal karyotypes. Furthermore, her abnormal phenotype and chromosomal breakpoint lesion were suspected to be associated. Hence, we conducted array comparative genomic hybridization, which revealed a 3.2 Mb novel pathological microdeletion at 13q13.3 involving 17 genes including neurobeachin (NBEA), a neurodevelopment disorder gene. Furthermore, fluorescence in situ hybridization using probes adjacent to the microdeletion suggested a concomitant occurrence of the deletion and translocation as the structural basis of this rare genomic variant.ConclusionNBEA may have roles in her neurodevelopmental phenotypes, whereas other genes within the 13q13.3 microdeletion may contribute to her dysmorphic features. 相似文献
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Coronavirus disease 2019 has created unprecedented challenges for amyotrophic lateral sclerosis (ALS) clinical care and research in the United States. Traditional evaluations for making an ALS diagnosis, measuring progression, and planning interventions rely on in-person visits that may now be unsafe or impossible. Evidence- and experience-based treatment options, such as multidisciplinary team care, feeding tubes, wheelchairs, home health, and hospice, have become more difficult to obtain and in some places are unavailable. In addition, the pandemic has impacted ALS clinical trials by impairing the ability to obtain measurements for trial eligibility, to monitor safety and efficacy outcomes, and to dispense study drug, as these also often rely on in-person visits. We review opportunities for overcoming some of these challenges through telemedicine and novel measurements. These can reoptimize ALS care and research in the current setting and during future events that may limit travel and face-to-face interactions. 相似文献
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Simone Postma Henk Schers Tom van de Belt Kees van Boven Huib ten Napel Hugo Stappers Debby Gerritsen Tim Olde Hartman 《Health expectations》2022,25(4):1363
BackgroundIn primary care, a shift from a disease‐oriented approach for patients with multimorbidity towards a more person‐centred approach is needed.AimTo transform a self‐report questionnaire for patients with chronic conditions in primary care, the Primary Care Functioning Scale (PCFS), into an understandable, visually attractive and feasible consultation tool for patients and health care providers. The consultation tool consists of a web‐based version of the PCFS, which is filled in by the patient and is processed to a feedback report that summarizes and visualizes the main findings. The feedback report can be discussed with the patient to facilitate a more person‐centred conversation for patients with chronic conditions and multimorbidity in general practice.Design and SettingIn this qualitative study, we developed the consultation tool by using design thinking in a participatory developmental process.MethodsIn the first phase, we constructed five different feedback report templates to summarize and display the results of a completed PCFS questionnaire in a series of two expert meetings with patients and general practitioners (GPs). In the second phase, we performed an exploratory qualitative interview study involving dyads of patients with chronic conditions and their practice nurses. In an iterative process, we explored their experiences with the consultation tool.ResultsPatients, as well as GPs, preferred a clear manner of presenting the results of the questionnaire in a feedback report. In 18 interviews with patients and practice nurses during three different interview rounds, we adjusted the feedback report and consultation tool based on the input from patients and practice nurses. After the final interview round, patients and practice nurses consented that the consultation tool was useful for having a more in‐depth consultation about functioning and patients'' preferences when integrated into the regularly scheduled consultations.ConclusionWe were able to develop an understandable and feasible consultation tool that is applicable in already existing chronic disease management programmes in general practice in the Netherlands.Patient or Public ContributionTo increase the understandability and feasibility of the consultation tool, we collaborated with end‐users and actively involved patients, GPs and practice nurses in a participatory development process. 相似文献
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<正>Snyder-Robinson综合征(SRS)是一种X连锁智力障碍性疾病,由精胺合酶(SMS)基因突变引起,主要表现为智力障碍、肌张力低下、骨质疏松等。目前国内尚未见报道。本文报道1例新生儿期SRS的临床表现及基因测序结果,以加强临床医生对本病的认识。1病历资料患儿男,出生后3 h。因“出生后3 h发现面部不对称、不完全腭裂”于2020-07-27入山东第一医科大学第一附属医院新生儿科, 相似文献
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目的探讨英语语言训练在减轻精神分裂症患者精神残疾中的作用。方法采用随机方法抽取我院62例精神分裂症患者,研究组32例,对照组30例。采用《住院护士观察量表》进行评定。研究组患者进行初级英语的听、读、说、写的教授和训练,每次30分钟,每天上午、下午各1次,时间6个月。结果训练后研究组积极因素较对照组显著增加(88.53±7.30 vs 83.19±6.78,P0.01);消极因素显著减少(9.53±3.88 vs 12.50±4.82,P0.05)。结论精神分裂症患者进行英语语言训练,对减轻精神残疾有较好的效果。 相似文献
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