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Patent ductus arteriosus is the most common cardiovascular abnormality in premature infants. With newly available percutaneous devices, centres are reporting high rates of success and favourable safety profiles with percutaneous closure of haemodynamically significant ductus arteriosi in infants under 1000 g. We report the case of a 5-week-old, previous 25-week gestation, 1200-g infant who underwent successful percutaneous closure of a ductus arteriosus with a Medtronic Microvascular Plug but who developed late-term coarctation from the device. This case should prompt practitioners to consider the need and timing of follow-up echocardiograms in this population and sheds light on a newly reported long-term complication of device closure in premature infants.
We describe the case of an 11-month-old girl with a rare cerebellar glioblastoma driven by a NACC2-NTRK2 (Nucleus Accumbens Associated Protein 2-Neurotrophic Receptor Tyrosine Kinase 2) fusion. Initial workup of our case demonstrated homozygous CDKN2A deletion, but immunohistochemistry for other driver mutations, including IDH1 R132H, BRAF V600E, and H3F3A K27M were negative, and ATRX was retained. Tissue was subsequently submitted for personalized oncogenomic analysis, including whole genome and whole transcriptome sequencing, which demonstrated an activating NTRK2 fusion, as well as high PD-L1 expression, which was subsequently confirmed by immunohistochemistry. Furthermore, H3 and IDH demonstrated wildtype status. These findings suggested the possibility of treatment with either NTRK- or immune checkpoint- inhibitors through active clinical trials. Ultimately, the family pursued standard treatment that involved Head Start III chemotherapy and proton radiotherapy. Notably, at most recent follow upapproximately two years from initial diagnosis, the patient is in disease remission and thriving, suggesting favorable biology despite histologic malignancy. This case illustrates the value of personalized oncogenomics, as the molecular profiling revealed two actionable changes that would not have been apparent through routine diagnostics. NTRK fusions are known oncogenic drivers in a range of cancer types, but this is the first report of a NACC2-NTRK2 fusion in a glioblastoma.
This presentation will enable the learner to:
1.Explore the current molecular landscape of pediatric high grade gliomas
2.Recognize the value of personalized oncogenomic analysis, particularly in rare and/or aggressive tumors
3.Discuss the current status of NTRK inhibitor clinical trials
There has been a growing interest in the study of writing from the perspective of its potential contribution to language development. However, scant attention has been paid to key methodological considerations regarding the analysis of the connection between L2 writing processes, reflection on language while writing, and language learning. In an attempt to advance in this domain, and informed by models of L2 writing, and cognitive L2 writing research framed in the problem-solving paradigm, this study provides a comprehensive description of the language reflection individual writers engage in when solving the linguistic problems they face while completing writing tasks in their L2. The think-aloud protocols generated by 21 EFL learners while writing an individual argumentative essay were analyzed on the basis of a reconceptualization of language-related episodes as problem-solving strategy clusters. The result is a comprehensive, theoretically motivated, and empirically based coding system that is offered as a basis for future research in the domain. We discuss the methodological implications of our analytic approach and advance some theoretical implications for future debates on the language learning potential of individual writing tasks.
The authors prepared a micro-structured, thermosensitive hydrogel with N-isopropylacrylamide microgels with a lower critical solution temperature (LCST) of 32 °C dispersed on a matrix of N-isopropylacrylamide-co-dimethylacrylamide with an LCST at 40 °C. Incubation of the hydrogel at 33 °C in a solution of fluorescein-albumin induced loading of the protein. The protein was not loaded at a temperature below the LCST of the microgels (4 °C), suggesting that the shrinkage of the microgels followed by the formation of micropores within the hydrogel matrix is a prerequisite for protein loading. A sustained and complete release of the loaded protein was obtained at 37 °C.
Objectives: Studies of neurocognitively elite older adults, termed SuperAgers, have identified clinical predictors and neurobiological indicators of resilience against age-related neurocognitive decline. Despite rising rates of older persons living with HIV (PLWH), SuperAging (SA) in PLWH remains undefined. We aimed to establish neuropsychological criteria for SA in PLWH and examined clinically relevant correlates of SA. Methods: 734 PLWH and 123 HIV-uninfected participants between 50 and 64 years of age underwent neuropsychological and neuromedical evaluations. SA was defined as demographically corrected (i.e., sex, race/ethnicity, education) global neurocognitive performance within normal range for 25-year-olds. Remaining participants were labeled cognitively normal (CN) or impaired (CI) based on actual age. Chi-square and analysis of variance tests examined HIV group differences on neurocognitive status and demographics. Within PLWH, neurocognitive status differences were tested on HIV disease characteristics, medical comorbidities, and everyday functioning. Multinomial logistic regression explored independent predictors of neurocognitive status. Results: Neurocognitive status rates and demographic characteristics differed between PLWH (SA=17%; CN=38%; CI=45%) and HIV-uninfected participants (SA=35%; CN=55%; CI=11%). In PLWH, neurocognitive groups were comparable on demographic and HIV disease characteristics. Younger age, higher verbal IQ, absence of diabetes, fewer depressive symptoms, and lifetime cannabis use disorder increased likelihood of SA. SA reported increased independence in everyday functioning, employment, and health-related quality of life than non-SA. Conclusions: Despite combined neurological risk of aging and HIV, youthful neurocognitive performance is possible for older PLWH. SA relates to improved real-world functioning and may be better explained by cognitive reserve and maintenance of cardiometabolic and mental health than HIV disease severity. Future research investigating biomarker and lifestyle (e.g., physical activity) correlates of SA may help identify modifiable neuroprotective factors against HIV-related neurobiological aging. (JINS, 2019, 25, 507–519)
The predominantly carbonate nature of the mountains near the coast of Málaga and Marbella (Costa del Sol, southern Spain) and the presence of springs have favored the formation of travertine buildups during the Quaternary. The geomorphic characteristics of the slopes and the location of the springs have determined the development of three types of travertine growths: (1) spring travertines, located preferentially on the south mountainside, where the slope is steepest; (2) pool-dam-cascade travertines, which form along the north and east edges, far from the carbonate relief and with a gentler slope; and (3) river-valley travertines, formed in the courses of the springs of any sector. Field observations combined with new amino acid racemization (AAR) dating of Helicidae gastropods show that most of the travertine formations are polyphasic and that their development was interrupted by stages of erosion and incision. Five stages of travertine development are evident, most of which are related to warm, moist episodes corresponding to marine oxygen isotope stages (MIS) 7, 5, 3, and 1, although local travertine growth also occurred during MIS 6 and during the transition from MIS 3 to 2.
Takotsubo cardiomyopathy is characterised by akinesis and ballooning of the left ventricular apex during contraction of the otherwise normal base of the heart. We describe the case of a 7-month-old previously healthy female who presented with an unwitnessed cardiac arrest. Workup raised suspicion for non-accidental trauma. Despite progression to brain death, the severely decreased ventricular function and apical akinesis of the left ventricle improved within 40 hours of admission. This report will familiarise paediatricians with this rare cardiomyopathy and emphasise the importance of considering non-accidental trauma as an inciting event for patients with unwitnessed cardiac arrest found to have decreased ventricular function.
This work combines very detailed measurements from terrestrial laser scanner (TLS), ground-based interferometry radar (GB-SAR) and ground-penetrating radar (GPR) to diagnose current conditions and to analyse the recent evolution of the Monte Perdido Glacier in the Spanish Pyrenees from 2011 to 2017. Thus, this is currently one of the best monitored small glacier (<0.5 km2) worldwide. The evolution of the glacier surface was surveyed with a TLS evidencing an important decline of 6.1 ± 0.3 m on average, with ice losses mainly concentrated over 3 years (2012, 2015 and 2017). Ice loss is unevenly distributed throughout the study period, with 10–15 m thinning in some areas while unchanged areas in others. GB-SAR revealed that areas with higher ice losses are those that are currently with no or very low ice motion. In contrast, sectors located beneath the areas with less ice loss are those that still exhibit noticeable ice movement (average 2–4.5 cm d─1 in summer, and annual movement of 9.98 ma─1 from ablation stakes data). GPR informed that ice thickness was generally <30 m, though locally 30–50 m. Glacier thinning is still accelerating and will lead to extinction of the glacier over the next 50 years.
TorsinA is a member of the AAA+ superfamily of adenosine triphosphatases. These AAA+ proteins have numerous biological functions, including vesicle fusion, cytoskeleton dynamics, intracellular trafficking, protein folding, and degradation as well as organelle biogenesis. Of particular interest is torsinA, which is mainly located in the endoplasmic reticulum (ER) and nuclear envelope (NE). Interestingly, mutations in the TOR1A gene (the gene encoding torsinA) are associated with DYT1 dystonia and with the preferential localization of mutated torsinA at the NE, where it is associated with lamina-associated polypeptide 1. A bioinformatics study of the torsinA interactome revealed reproductive processes to be highly relevant, as proteins in this class were found to interact with the former. Interestingly, the torsin protein family had never been previously described to be associated with the mammalian spermatogenic process. Histological staining of torsinA in human testis tissue revealed a granular cytoplasmic localization in mid- and late spermatocytes. We further sought to understand this newly discovered expression of torsinA in the meiotic phase of human spermatogenesis by studying its specific subcellular distribution. TorsinA is not present in the ER as commonly described. The proposal that torsinA might relocate to the pro-acrosomal vesicles in the Golgi apparatus is discussed.