560 research outputs found
Adding Evidence to the Role of NEUROG1 in Congenital Cranial Dysinnervation Disorders
Congenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. Although some CCDDs genes are known, several clinical phenotypes and their aetiologies remain to be elucidated. We describe a 12-year-old boy with hypotonia, developmental delay, sensorineural hearing loss, and keratoconjunctivitis due to lack of corneal reflex. He had a long expressionless face, severe oromotor dysfunction, bilateral agenesis/severe hypoplasia of the VIII nerve with marked atresia of the internal auditory canals and cochlear labyrinth malformation. Trio-exome sequencing identified a homozygous loss of function variant in the NEUROG1 gene (NM_006161.2: c.202G > T, p.Glu68*). NEUROG1 is considered a causal candidate for CCDDs based on (i) the previous report of a patient with a homozygous gene deletion and developmental delay, deafness due to absent bilateral VIII nerves, and severe oromotor dysfunction; (ii) a second patient with a homozygous NEUROG1 missense variant and corneal opacity, absent corneal reflex and intellectual disability; and (iii) the knockout mouse model phenotype which highly resembles the disorder observed in humans. Our findings support the growing compelling evidence that loss of NEUROG1 leads to a very distinctive disorder of cranial nerves development.info:eu-repo/semantics/publishedVersio
Preoperative Image Segmentation for Organ Visualization Using Augmented Reality Technology During Open Liver Surgery
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Flow cytometry and targeted immune transcriptomics identify distinct profiles in patients with chronic myeloid leukemia receiving tyrosine kinase inhibitors with or without interferon-α
This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativeco mmons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/ zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the dat
The SKA and "High-Resolution" Science
"High-resolution", or "long-baseline", science with the SKA and its
precursors covers a broad range of topics in astrophysics. In several research
areas, the coupling between improved brightness sensitivity of the SKA and a
sub-arcsecond resolution would uncover truly unique avenues and opportunities
for studying extreme states of matter, vicinity of compact relativistic
objects, and complex processes in astrophysical plasmas. At the same time, long
baselines would secure excellent positional and astrometric measurements with
the SKA and critically enhance SKA image fidelity at all scales. The latter
aspect may also have a substantial impact on the survey speed of the SKA, thus
affecting several key science projects of the instrument.Comment: JENAM-2010: Invited talk at JENAM session S7: The Square Kilometre
Array: Paving the way for the new 21st century radio astronomy paradigm; 9
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The impact of a supportive supervision intervention on health workers in Niassa, Mozambique: a cluster-controlled trial
BACKGROUND: Regular supportive supervision is critical to retaining and motivating staff in resource-constrained settings. Previous studies have shown the particular contribution that supportive supervision can make to improving job satisfaction amongst over-stretched health workers in such settings.
METHODS: The Support, Train and Empower Managers (STEM) study designed and implemented a supportive supervision intervention and measured its' impact on health workers using a controlled trial design with a three-arm pre- and post-study in Niassa Province in Mozambique. Post-intervention interviews with a small sample of health workers were also conducted.
RESULTS: The quantitative measurements of job satisfaction, emotional exhaustion and work engagement showed no statistically significant differences between end-line and baseline. The qualitative data collected from health workers post the intervention showed many positive impacts on health workers not captured by this quantitative survey.
CONCLUSIONS: Health workers perceived an improvement in their performance and attributed this to the supportive supervision they had received from their supervisors following the intervention. Reports of increased motivation were also common. An unexpected, yet important consequence of the intervention, which participants directly attributed to the supervision intervention, was the increase in participation and voice amongst health workers in intervention facilities
Sex differences in axial spondyloarthritis: data from a Portuguese spondyloarthritis cohort
Background: Axial spondyloarthritis (axSpA), particularly ankylosing spondylitis was historically considered a
male’s disease and has been under-recognized in women.
Emerging evidence reveals sex differences in pathophysiology, disease presentation and therapeutic efficacy.
Objective: To identify differences between sexes in a Portuguese cohort of patients with axSpA regarding clinical
manifestations, disease activity, functional capacity, patient related outcomes and presence of sacroiliitis on x-ray or
magnetic resonance imaging.
Methods: Patients with ≥18 years fulfilling the ASAS- Assessment of Spondyloarthritis International Society
classification criteria for axSpA registered in the electronic Rheumatic Diseases Portuguese Register (Reuma.pt)
were included in this multicentric cross-sectional study. Sociodemographic data, clinical features and imaging were
collected from the first record in Reuma.pt. These variables were compared between sexes using Mann-Whitney
test and Chi-Square test. Variables with a significant association with variable sex were considered in the multiple
variable analysis to adjust the sex effect on the outcome variables. Statistical analysis was performed with R version
4.0.2 and p<0.05 was considered statistically significant.
Results: A total of 1995 patients were included, 1114 (55.9%) men and 881 (44.1%) women. Men had an earlier
disease onset (25.1 vs 28.4, p<0.001), were younger at diagnosis (26.9 vs 30.4, p<0.001) and were more frequently
smokers (32.1% vs 15.7%, p<0.001). Comparing to women, men had worse Bath Ankylosing Spondylitis
Metrological Index scores (4.0 vs 3.4, p<0.001), higher levels of C-Reactive Protein (10.5 vs 6.9 mg/L, p<0.001)
and were more often Human Leukocyte Antigen-B27 positive (67.8% vs 54%, p<0.001).
In contrast, women more frequently had inflammatory bowel disease (8.8% vs 4.9%, p=0.004), higher levels of
erythrocyte sedimentation rate (25.0 vs 21.0mm/h, p=0.003) and worse patient-related outcomes- Bath Ankylosing
Spondylitis Disease Activity Index (5.7 vs 4.5, p<0.001), Patient Global Assessment (60.0 vs 50.0, p<0.001) and
fatigue (6.2 vs 5.0, p<0.001).
Discussion: In this large multicentric study from a Portuguese axSpA cohort, we confirmed sex differences in patients
with axSpA. This work brings awareness to these differences, resulting in less underdiagnosis and misdiagnosis,
optimizing treatment strategies, and improving outcomes in axSpA.publishe
Effects of external nutrient sources and extreme weather events on the nutrient budget of a Southern European coastal lagoon
The seasonal and annual nitrogen (N), phosphorus (P), and carbon (C) budgets of the mesotidal Ria Formosa lagoon, southern Portugal, were estimated to reveal the main inputs and outputs, the seasonal patterns, and how they may influence the ecological functioning of the system. The effects of extreme weather events such as long-lasting strong winds causing upwelling and strong rainfall were assessed. External nutrient inputs were quantified; ocean exchange was assessed in 24-h sampling campaigns, and final calculations were made using a hydrodynamic model of the lagoon. Rain and stream inputs were the main freshwater sources to the lagoon. However, wastewater treatment plant and groundwater discharges dominated nutrient input, together accounting for 98, 96, and 88 % of total C, N, and P input, respectively. Organic matter and nutrients were continuously exported to the ocean. This pattern was reversed following extreme events, such as strong winds in early summer that caused upwelling and after a period of heavy rainfall in late autumn. A principal component analysis (PCA) revealed that ammonium and organic N and C exchange were positively associated with temperature as opposed to pH and nitrate. These variables reflected mostly the benthic lagoon metabolism, whereas particulate P exchange was correlated to Chl a, indicating that this was more related to phytoplankton dynamics. The increase of stochastic events, as expected in climate change scenarios, may have strong effects on the ecological functioning of coastal lagoons, altering the C and nutrient budgets.Portuguese Science and Technology Foundation (FCT) [POCI/MAR/58427/2004, PPCDT/MAR/58427/2004]; Portuguese Science and Technology Foundation (FCT
A new approach to bad news effects on volatilit y: the multiple-sign-volume sensitive regime EGARCH model (MSV-EGARCH)
In this paper, using daily data for six major international stock market indexes and a modified EGARCH specification, the links between stock market returns, volatility and trading volume are investigated in a new nonlinear conditional variance framework with multiple regimes and volume eff ects. Volatility forecast comparisons, using the Harvey-Newbold test for multiple forecasts encompassing, seem to demonstrate that the MSV- EGARCH complex threshold structure is able to correctly fit GARCH- type dynamics of the series under study and dominates competing standard asymmetric models in several of the considered stock indexes.info:eu-repo/semantics/publishedVersio
Comparative Anatomical Analyses of the Forearm Muscles of Cebus libidinosus (Rylands et al. 2000): Manipulatory Behavior and Tool Use
The present study describes the flexor and extensor muscles in Cebus libidinosus' forearm and compares them with those from humans, chimpanzees and baboons. The data is presented in quantitative anatomical indices for similarity. The capuchin forearm muscles showed important similarities with chimpanzees and humans, particularly those that act on thumb motion and allow certain degree of independence from other hand structures, even though their configuration does not enable a true opposable thumb. The characteristics of Cebus' forearm muscles corroborate the evolutionary convergence towards an adaptive behavior (tool use) between Cebus genus and apes
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