bluuebunny/crossref_metadata_2025 huggingface dataset:
Wnt/β-catenin signaling regulates brain-derived neurotrophic factor release from spinal microglia to mediate HIV1 gp120-induced neuropathic pain
Authors: Zhou Xinxin , Tao Lei , Zhao Mengru , Wu Shengjun , Obeng Enoch , Wang Dan , Zhang Wenping
Published: May 2020

HIV-associated neuropathic pain (HNP) is a common complication for AIDS patients. The pathological mechanism governing HNP has not been elucidated, and HNP has no effective analgesic treatment. Brain-derived neurotrophic factor (BDNF) is a member of the neurotrophic factor family related to the plasticity of the central nervous system. BDNF dysregulation is involved in many neurological diseases, including neuropathic pain. However, to the best of our knowledge, the role and mechanism of BDNF in HNP have not been elucidated. In this study, we explored this condition in an HNP mouse model induced by intrathecal injection of gp120. We found that Wnt3a and β-catenin expression levels increased in the spinal cord of HNP mice, consequently regulating the expression of BDNF and affecting hypersensitivity. In addition, the blockade of Wing-Int/β-catenin signaling, BDNF/TrkB or the BDNF/p75NTR pathway alleviated mechanical allodynia. BDNF immunoreactivity was colocalized with spinal microglial cells, which were activated in HNP mice. Inhibition of spinal microglial cell activation by minocycline relieved mechanical allodynia in HNP mice. This study helped to elucidate the role of the Wing-Int/β-catenin/BDNF signaling axis in HNP and may establish a foundation for further research investigating the Wing-Int/β-catenin/BDNF signaling axis as a target for HNP treatment.
Pain Assessment Approaches for Students With Intellectual Disability
Authors: Thompson Victoria N. , Morse Brenna L. , Peters Anya B.
Published: May 2020

Intellectual disability may affect the access school children have to curriculum and social experiences. While these children often have difficulty with social relationships, academic functioning, and communication, they also may experience pain on a daily basis. Communication difficulties present challenges for school nurses to identify and assess pain in students with intellectual disability. Although considered a gold standard for pain assessment, self-report cannot always be used for students with intellectual disability. School nurses must find methods other than self-reports of pain intensity to adequately assess these children’s pain, such as collaborating with the student’s caregiver(s), observing the student in the classroom, or assuming pain is present and offering an appropriate pain management intervention.
Brain and Physiological Markers of Autonomic Function Are Associated With Treatment-Related Improvements in Self-Reported Autonomic Dysfunction in Veterans With Gulf War Illness: An Exploratory Pilot Study
Authors: Mathersul Danielle C , Eising Carla M , DeSouza Danielle D , Spiegel David , Bayley Peter J
Published: May 2020

Background

Gulf War Illness (GWI) is a poorly understood condition characterized by a constellation of mood, cognitive, and physical symptoms. A growing body of evidence demonstrates autonomic nervous system (ANS) dysfunction. Few published treatment studies exist for GWI.

Method

We recently completed a randomized controlled trial comparing a 10-week group yoga intervention to 10-week group cognitive behavioral therapy (CBT) for veterans with GWI. Here, we present exploratory data on ANS biomarkers of treatment response from a small pilot exploratory neurophysiological add-on study (n = 13) within that larger study.

Results

Findings suggest that veterans with GWI receiving either yoga or CBT for pain improved following treatment and that changes in biological ANS—especially for the yoga group—moved in the direction of healthy profiles: lower heart rate, higher square root of the mean squared differences between successive R-R intervals (RMSSD), greater parasympathetic activation/dominance (increased high-frequency heart rate variability [HF-HRV], decreased low-frequency/high-frequency [LF/HF] ratio), reduced right amygdala volume, and stronger amygdala-default mode/amygdala-salience network connectivity, both immediately posttreatment and at 6-month follow-up. Biological mechanisms of CBT appeared to underlie improvements in more psychologically loaded symptoms such as self-reported fatigue and energy. Higher tonic arousal and/or more sympathetic dominance (higher skin conductance, lower RMSSD, lower HF-HRV, higher LF/HF ratio) pretreatment predicted greater treatment-related improvements in self-reported ANS for both the yoga and CBT group.

Conclusion

These exploratory pilot data provide preliminary support for the suggestion that treatment (yoga, CBT) is associated with improvements in both biological and self-reported ANS dysfunctions in GWI. The major limitation for these findings is the small sample size. Larger and more controlled studies are needed to replicate these findings and directly compare biomarkers of yoga versus CBT.
Cementless total hip arthroplasty after failed internal fixation of acetabular fractures: A single center experience of 25 consecutive patients
Authors: Do Min Uk , Shin Won Chul , Moon Nam Hoon , Kang Suk-Woong , Suh Kuen Tak
Published: May 2020

Purpose:

Total hip arthroplasty (THA) is an available surgical option for failed acetabular fracture, previously managed by open reduction and internal fixation. This study aimed to report the postoperative outcomes of cementless THA in patients with this condition.

Materials and Methods:

Between November 2000 and September 2016, 25 consecutive cementless THAs for failed internal fixation after acetabular fractures with a minimum follow-up of 2 years were analyzed. The mean age at the time of surgery was 58 years (36–85 years), and the time elapsed between fracture and THA was 70 months (7–213 months). Clinical and radiologic evaluations were performed on all patients.

Results:

Clinically, the mean Harris hip score at the last follow-up was 88 points. Walking ability recovered to pre-injury status in 92% patients, and activities of daily living recovered in 96% patients. Radiographically, none of the acetabular cups showed evidence of migration and loosening during the mean follow-up of 50 months. All cases showed stable femoral stem fixation at the last follow-up. Dislocation occurred in three cases (12%).

Conclusion:

Outcomes of cementless THA after failed internal fixation for acetabular fractures were satisfactory. However, a relatively high incidence of postoperative dislocation is still a concern.
When Life Ceases—Relatives’ Experiences When a Family Member Is Confirmed Brain Dead and Becomes a Potential Organ Donor—A Literature Review
Authors: Kerstis Birgitta , Widarsson Margareta
Published: May 2020

Introduction

Most healthcare professionals rarely experience situations of a request for organ donation being made to the patient’s family and need to have knowledge and understanding of the relatives’ experiences.

Objective

To describe relatives’ experiences when a family member is confirmed brain dead and becomes a potential organ donor.

Methods

A literature review and a thematic data analysis were undertaken, guided by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses reporting process. A total of 18 papers, 15 qualitative and 3 quantitative, published from 2010 to 2019, were included. The electronic search was carried out in January 2019.

Results

The overarching theme When life ceases emerged as a description of relatives’ experiences during the donation process, including five subthemes: cognitive dissonance and becoming overwhelmed with emotions, interacting with healthcare professionals, being in a complex decision-making process, the need for proximity and privacy, and feeling hope for the future. The relatives had different needs during the donation process. They were often in shock when the declaration of brain death was presented, and the donation request was made, which affected their ability to assimilate and understand information. They had difficulty understanding the concept of brain death. The healthcare professionals caring for the patient had an impact on how the relatives felt after the donation process. Furthermore, relatives needed follow-up to process their loss.

Conclusion

Caring science with an explicit relative perspective during the donor process is limited. The grief process is individual for every relative, as the donation process affects relatives’ processing of their loss. We assert that intensive care unit nurses should be included when essential information is given, as they often work closest to the patient and her or his family. Furthermore, the relatives need to be followed up afterwards, in order to have questions answered and to process the grief, together with healthcare professionals who have insight into the hospital stay and the donation process.
Olive oil limited motor disruption and neuronal damage in parkinsonism induced by MPTP administration
Authors: Farfán-García Eunice D. , Abad-García Antonio , Alatorre Alberto , Pérez-Capistran Teresa , Querejeta Enrique , Soriano-Ursúa Marvin A.
Published: May 2020

Some vegetable oils show beneficial effects in modulating neurodegeneration; in this work, we evaluated the therapeutic potential of corn and olive oils against neurodegenerative processes using the acute parkinsonism murine model induced by 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) in C57BL6 mice. The effects of corn and olive oils were quantified by the performance of mice in the open field and rotarod, and grasp strength tests and neuronal survival in the substantia nigra and striatum were determined by immunohistochemistry. Extra-virgin olive oil decreased the toxicity induced by MPTP administration judged by the performance in the behavioral motor tests and the number of total neurons in the analyzed brain regions. In contrast, corn oil only produced discrete changes in the behavioral and histological evaluations. Despite the numerous benefits of olive oil, its active substances that confer desirable effects and their mechanism of action remain unclear. Our observations can help to understand the ameliorative effects of some natural oils on neurodegeneration induced by some toxins, particularly the attenuation of neural damage related to toxin-induced parkinsonism or other pathologies that comprise neuronal death and motor disruption.
Improving post-earthquake emergency response using indoor tracking
Authors: Cimellaro Gian Paolo , Domaneschi Marco , Zamani Noori Ali
Published: May 2020

Localization and indoor tracking of rescuers and victims are essential during emergency management in post-earthquake conditions because those allow search and rescue teams to be faster and more efficient. While several indoor tracking technologies have been developed over the past years, localization and tracking are still a challenge during emergency conditions when power and telecommunication networks are often missing. This article presents a new indoor positioning technique for emergency support that is based on the ultra-wideband network using fixed nodes (anchors) and moving nodes (tags) in the form of a smart watch. The main challenge addressed by the system design is a self-calibrating positioning that is able to transfer also the user’s vital signals parameters. This article describes the system architecture and the key aspects of the prototype components. Two applications for indoor tracking and emergency rescue are illustrated while the performance of the system is validated by performing tests in a complex building.
Open ADAMTS13, induced by antibodies, is a biomarker for subclinical immune-mediated thrombotic thrombocytopenic purpura
Authors: Roose Elien , Schelpe An-Sofie , Tellier Edwige , Sinkovits György , Joly Bérangère S , Dekimpe Charlotte , Kaplanski Gilles , Le Besnerais Maelle , Mancini Ilaria , Falter Dr. Tanja , von Auer Charis , Feys Hendrik Benoit , Reti Marienn , Rossmann Heidi , Vandenbulcke Aline , Pareyn Inge , Voorberg Jan , Greinacher Andreas , Benhamou Ygal , Deckmyn Hans , Fijnheer Rob R , Prohaszka Zoltan , Peyvandi Flora , Lämmle Bernhard , Coppo Paul , De Meyer Simon , Veyradier Agnès , Vanhoorelbeke Karen
Published: May 2020

Recently, we showed that during the acute phase of immune-mediated thrombotic thrombocytopenic purpura (iTTP), ADAMTS13 circulates in an open conformation. Although the cause of this conformational change in acute iTTP remains elusive, ADAMTS13 is mainly closed in iTTP patients (i) in remission with an ADAMTS13 activity >50% and undetectable anti-ADAMTS13 autoantibodies, and (ii) after rituximab treatment, suggesting a role for anti-ADAMTS13 autoantibodies. Therefore, IgGs from 18 acute iTTP patients were purified and added to closed ADAMTS13 in healthy donor plasma. This resulted in open ADAMTS13 in 14/18 (78%) samples, proving that indeed anti-ADAMTS13 autoantibodies can induce an open ADAMTS13 conformation. To further elucidate the conformation of ADAMTS13 in iTTP patients, we studied a novel iTTP patient cohort (n=197) that also included plasma samples of iTTP patients in remission where ADAMTS13 activity was <50%. The open ADAMTS13 conformation was not only found during acute iTTP but also in patients in remission with an ADAMTS13 activity <50% and in half of the patients with an ADAMTS13 activity >50%, although free anti-ADAMTS13 autoantibodies were not always detected. Thus open ADAMTS13 is not only a hallmark of acute iTTP, but also a novel biomarker to detect subclinical iTTP in patients in remission. Finally, a long term follow-up study in one iTTP patient showed that the open conformation precedes a severe drop in ADAMTS13 activity. In conclusion, we have shown that anti-ADAMTS13 autoantibodies from iTTP patients induce an open ADAMTS13 conformation. Most importantly, an open ADAMTS13 conformation is a biomarker for subclinical iTTP and could become an important tool in TTP management.
Neonatal hair profiling reveals a metabolic phenotype of monochorionic twins with selective intrauterine growth restriction and abnormal umbilical artery flow
Authors: Yang Jing , Wei Yuan , Qi Hongbo , Yin Nanlin , Yang Yang , Li Zailing , Xu Lili , Wang Xueju , Yuan Pengbo , Li Luyao , Han Ting-Li , Zhao Yangyu
Published: May 2020

Background

Selective intrauterine fetal growth restriction (sIUGR) in monochorionic diamniotic twins, especially types 2&3 with abnormal umbilical artery Doppler, results in increased risk of fetal/perinatal mortality and postnatal disability. We investigate whether the hair metabolome profiles of neonates were associated with the pathophysiological differences across the different clinical forms of sIUGR in twins.

Methods

Hair samples were collected at delivery from 10 pairs of type 1 sIUGR twins, 8 pairs of types 2&3 sIUGR twins, and 11 pairs of twins without sIUGR. The hair metabolome was characterized using gas chromatography-mass spectrometry.

Results

Our results demonstrated that the hair metabolite profiles of the different sIUGR subclinical forms were associated with the averaged fetal growth rate after 28 weeks of gestation but not with birthweight. The hair profiles were capable of discriminating type2&3 sIUGR twins from twins without sIUGR. In particular, the metabolites 2-aminobutyric acid, cysteine, alanine, and tyrosine all displayed areas under the receiver operating characteristic curve were above 0.9. The metabolic pathway analysis highlighted the associations of sIUGR twins with abnormal umbilical artery flow with increased metabolites from a nutrient depletion pathway, glutathione metabolism, and nerve development.

Conclusion

This study offers novel insight into the severity of intrauterine ischemia and hypoxia for T2&3 sIUGR twins, through evaluation of the neonatal hair metabolome.
Regulation Method for Torque–Angle Characteristics of Rotary Electric–Mechanical Converter Based on Hybrid Air Gap
Authors: Meng Bin , Lai Yongjiang , Qiu Xinguo
Published: May 2020

The torque–angle characteristics of electric–mechanical converters are important determinants of the quality of electrohydraulic proportional control systems. It is far more difficult for a rotary electric–mechanical converter (REMC) to obtain flat torque–angle characteristics than traditional proportional solenoid, greatly influencing the promotion and application of rotary valves for electrohydraulic proportional control systems. A simple and feasible regulation method for the torque–angle characteristics of REMCs based on a hybrid air gap is proposed. The regulation is performed by paralleling an additional axial air gap with the original radial air gap to obtain a flat torque–angle characteristic and increase output torque. For comparison, prototypes of REMCs based on hybrid and radial air gaps were manufactured, and a special test rig was built. The torque–angle characteristics under different excitation currents and step responses were studied by magnetic circuit analysis, finite element simulation, and experimental research. The experimental results were consistent with the theoretical analysis. It was shown that REMCs based on a hybrid air gap can obtain a flat torque–angle characteristic with further optimizing of key structural parameters and also increase output torque. This regulation method provides a new approach for the design of proportional rotary electromechanical converters.
Enhancing fragment-based protein structure prediction by customising fragment cardinality according to local secondary structure
Authors: Abbass Jad , Nebel Jean-Christophe
Published: May 2020

Background

Whenever suitable template structures are not available, usage of fragment-based protein structure prediction becomes the only practical alternative as pure ab initio techniques require massive computational resources even for very small proteins. However, inaccuracy of their energy functions and their stochastic nature imposes generation of a large number of decoys to explore adequately the solution space, limiting their usage to small proteins. Taking advantage of the uneven complexity of the sequence-structure relationship of short fragments, we adjusted the fragment insertion process by customising the number of available fragment templates according to the expected complexity of the predicted local secondary structure. Whereas the number of fragments is kept to its default value for coil regions, important and dramatic reductions are proposed for beta sheet and alpha helical regions, respectively.

Results

The evaluation of our fragment selection approach was conducted using an enhanced version of the popular Rosetta fragment-based protein structure prediction tool. It was modified so that the number of fragment candidates used in Rosetta could be adjusted based on the local secondary structure. Compared to Rosetta’s standard predictions, our strategy delivered improved first models, + 24% and + 6% in terms of GDT, when using 2000 and 20,000 decoys, respectively, while reducing significantly the number of fragment candidates. Furthermore, our enhanced version of Rosetta is able to deliver with 2000 decoys a performance equivalent to that produced by standard Rosetta while using 20,000 decoys. We hypothesise that, as the fragment insertion process focuses on the most challenging regions, such as coils, fewer decoys are needed to explore satisfactorily conformation spaces.

Conclusions

Taking advantage of the high accuracy of sequence-based secondary structure predictions, we showed the value of that information to customise the number of candidates used during the fragment insertion process of fragment-based protein structure prediction. Experimentations conducted using standard Rosetta showed that, when using the recommended number of decoys, i.e. 20,000, our strategy produces better results. Alternatively, similar results can be achieved using only 2000 decoys. Consequently, we recommend the adoption of this strategy to either improve significantly model quality or reduce processing times by a factor 10.
Negative binomial additive model for RNA-Seq data analysis
Authors: Ren Xu , Kuan Pei-Fen
Published: May 2020

Background

High-throughput sequencing experiments followed by differential expression analysis is a widely used approach for detecting genomic biomarkers. A fundamental step in differential expression analysis is to model the association between gene counts and covariates of interest. Existing models assume linear effect of covariates, which is restrictive and may not be sufficient for certain phenotypes.

Results

We introduce NBAMSeq, a flexible statistical model based on the generalized additive model and allows for information sharing across genes in variance estimation. Specifically, we model the logarithm of mean gene counts as sums of smooth functions with the smoothing parameters and coefficients estimated simultaneously within a nested iterative method. The variance is estimated by the Bayesian shrinkage approach to fully exploit the information across all genes.

Conclusions

Based on extensive simulations and case studies of RNA-Seq data, we show that NBAMSeq offers improved performance in detecting nonlinear effect and maintains equivalent performance in detecting linear effect compared to existing methods. The vignette and source code of NBAMSeq are available at http://bioconductor.org/packages/release/bioc/html/NBAMSeq.html.
Bacterial cell growth is arrested by violet and blue, but not yellow light excitation during fluorescence microscopy
Authors: El Najjar Nina , van Teeseling Muriel C. F. , Mayer Benjamin , Hermann Silke , Thanbichler Martin , Graumann Peter L.
Published: May 2020

Background

Fluorescence microscopy is a powerful tool in cell biology, especially for the study of dynamic processes. Intensive irradiation of bacteria with UV, blue and violet light has been shown to be able to kill cells, but very little information is available on the effect of blue or violet light during live-cell imaging.

Results

We show here that in the model bacterium Bacillus subtilis chromosome segregation and cell growth are rapidly halted by standard violet (405 nm) and blue light (CFP) (445–457 nm) excitation, whereas they are largely unaffected by green light (YFP). The stress sigma factor σB and the blue-light receptor YtvA are not involved in growth arrest. Using synchronized B. subtilis cells, we show that the use of blue light for fluorescence microscopy likely induces non-specific toxic effects, rather than a specific cell cycle arrest. Escherichia coli and Caulobacter crescentus cells also stop to grow after 15 one-second exposures to blue light (CFP), but continue growth when imaged under similar conditions in the YFP channel. In the case of E. coli, YFP excitation slows growth relative to white light excitation, whereas CFP excitation leads to cell death in a majority of cells. Thus, even mild violet/blue light excitation interferes with bacterial growth. Analyzing the dose-dependent effects of violet light in B. subtilis, we show that short exposures to low-intensity violet light allow for continued cell growth, while longer exposures do not.

Conclusions

Our experiments show that care must be taken in the design of live-cell imaging experiments in that violet or blue excitation effects must be closely controlled during and after imaging. Violet excitation during sptPALM or other imaging studies involving photoactivation has a threshold, below which little effects can be seen, but above which a sharp transition into cell death occurs. YFP imaging proves to be better suited for time-lapse studies, especially when cell cycle or cell growth parameters are to be examined.
Conformity-like behaviour in mice observing the freezing of other mice: a model of empathy
Authors: Ueno Hiroshi , Suemitsu Shunsuke , Murakami Shinji , Kitamura Naoya , Wani Kenta , Takahashi Yu , Matsumoto Yosuke , Okamoto Motoi , Ishihara Takeshi
Published: May 2020

Background

Empathy refers to the ability to recognise and share emotions with others. Several research groups have recognised observational fear in mice as a useful behavioural model for assessing their ability to empathise. However, in these observation systems, it remains unclear whether the observer mouse truly recognises the movements of, and empathises with, the demonstrator mouse. We examined changes in the behaviour of an observer mouse when a demonstrator mouse was anaesthetised, when the demonstrator’s activity was increased, and when the interval of electrical stimulation was altered. If mice exhibit an ability to empathise, then the observer should display empathic behaviour when the demonstrator experiences pain or discomfort under any circumstances.

Results

Relative to low-frequency stimulation, frequent electrical stimulation reduced immobility time among observer mice. Moreover, when demonstrators exhibited excessive activity, the activity of the observers significantly increased. In addition, the proportion of immobility time among observer mice significantly increased when demonstrator mice exhibited fear learning and excessive immobility.

Conclusion

Although our results indicate that observer mice change their behaviour based on the movements of demonstrator mice, increases in immobility time may reflect conformity-like behaviour rather than emotional empathy. Thus, not only visual but also auditory and odour information additionally influenced the conformity-like behaviour shown by observer mice. Thus, our findings suggest that methods other than the fear observation system should be used to investigate rodent empathy-like behaviour.
Diagnostic performance of standard breast MR imaging compared to dedicated axillary MR imaging in the evaluation of axillary lymph node
Authors: Ha Su Min , Chae Eun Young , Cha Joo Hee , Shin Hee Jung , Choi Woo Jung , Kim Hak Hee
Published: May 2020

Background

Breast magnetic resonance (MR) imaging does not usually assess axillary lymph nodes -using dedicated axillary sequence. The additional utility of dedicated axillary sequence is poorly understood. We evaluated the diagnostic performance of dedicated axillary imaging sequence for evaluation of axillary lymph node.

Methods

In this retrospective study from January 2018 to March 2018, 750 consecutive women underwent breast MR imaging. 263 patients were excluded, due to neoadjuvant chemotherapy (n = 235), incomplete histopathological information (n = 14) and follow-up loss (n = 14), 487 women were included. Two radiologists scored lymph node on confidence level scale from 0 (definitely benign) to 4 (definitely malignant), −using standard MR and dedicated axillary imaging sequences. Diagnostic performance parameters were compared and calculated correlation coefficient of quantitative features (largest dimension, cortical thickness, and the ratio of cortical thickness to largest dimension of lymph node).

Results

68 (14.0%) were node-positive and 419 (86.0%) were node-negative. The sensitivity, specificity, positive, negative predictive values and accuracy were respectively, 66.2, 93.3, 61.6, 94.4, and 89.5% for dedicated axillary sequence and 64.7, 94.0, 63.8, 94.3, 89.9% for standard MR sequence The dedicated axillary and standard sequences s did not exhibit significant differences in detection of positive lymph nodes (AUC, 0.794 for standard and 0.798 for dedicated axillary sequence, P = 0.825). The cortical thickness appeared to be the most discriminative quantitative measurement using both axillary (AUC, 0.846) and standard sequences (AUC, 0.823), with high correlation coefficient (0.947).

Conclusion

Evaluation of axillary nodal status using standard breast MR imaging is comparable to dedicated axillary MR imaging.
Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report
Authors: Bieder Andrea , Einarsdottir Elisabet , Matsson Hans , Nilsson Harriet E. , Eisfeldt Jesper , Dragomir Anca , Paucar Martin , Granberg Tobias , Li Tie-Qiang , Lindstrand Anna , Kere Juha , Tapia-Páez Isabel
Published: May 2020

Background

Developmental dyslexia (DD) is a neurodevelopmental learning disorder with high heritability. A number of candidate susceptibility genes have been identified, some of which are linked to the function of the cilium, an organelle regulating left-right asymmetry development in the embryo. Furthermore, it has been suggested that disrupted left-right asymmetry of the brain may play a role in neurodevelopmental disorders such as DD. However, it is unknown whether there is a common genetic cause to DD and laterality defects or ciliopathies.

Case presentation

Here, we studied two individuals with co-occurringsitus inversus(SI) and DD using whole genome sequencing to identify genetic variants of importance for DD and SI. Individual 1 had primary ciliary dyskinesia (PCD), a rare, autosomal recessive disorder with oto-sino-pulmonary phenotype and SI. We identified two rare nonsynonymous variants in the dynein axonemal heavy chain 5 gene (DNAH5): a previously reported variant c.7502G > C; p.(R2501P), and a novel variant c.12043 T > G; p.(Y4015D). Both variants are predicted to be damaging. Ultrastructural analysis of the cilia revealed a lack of outer dynein arms and normal inner dynein arms. MRI of the brain revealed no significant abnormalities. Individual 2 had non-syndromic SI and DD. In individual 2, one rare variant (c.9110A > G;p.(H3037R)) in the dynein axonemal heavy chain 11 gene (DNAH11),coding for another component of the outer dynein arm, was identified.

Conclusions

We identified the likely genetic cause of SI and PCD in one individual, and a possibly significant heterozygosity in the other, both involving dynein genes. Given the present evidence, it is unclear if the identified variants also predispose to DD and further studies into the association between laterality, ciliopathies and DD are needed.
General lifestyle interventions on their own seem insufficient to improve the level of physical activity after stroke or TIA: a systematic review
Authors: Hendrickx Wendy , Vlietstra Lara , Valkenet Karin , Wondergem Roderick , Veenhof Cindy , English Coralie , Pisters Martijn Frits
Published: May 2020

Background

Insufficient amounts of physical activity is a risk factor for (recurrent) stroke. People with a stroke or transient ischemic attack (TIA) have a high risk of recurrent stroke and have lower levels of physical activity than their healthy peers. Though several reviews have looked at the effects of lifestyle interventions on a number of risk factors of recurrent stroke, the effectiveness of these interventions to increase the amounts of physical activity performed by people with stroke or TIA are still unclear. Therefore, the research question of this study was: what is the effect of lifestyle interventions on the level of physical activity performed by people with stroke or TIA?

Method

A systematic review was conducted following the guidelines of the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) statement. Pubmed, Embase and Cumulative Index for Nursing and Allied Health Literature (CINAHL), were searched up to August 2018. Randomised controlled trials that compared lifestyle interventions, aimed to increase the amount of physical activity completed by participants with a stroke or TIA, with controls were included. The Physiotherapy Evidence Database (PEDro) score was used to assess the quality of the articles, and the Grading of Recommendations, Assessment, Development and Evaluations (GRADE) method for the best evidence synthesis.

Results

Eleven trials (n = 2403) met the inclusion criteria. The quality of the trials was mostly high, with 8 (73%) of trials scoring ≥6 on the PEDro scale. The overall best evidence syntheses showed moderate quality evidence that lifestyle interventions do not lead to significant improvements in the physical activity level of people with stroke or TIA. There is low quality evidence that lifestyle interventions that specifically target physical activity are effective at improving the levels of physical activity of people with stroke or TIA.

Conclusion

Based on the results of this review, general lifestyle interventions on their own seem insufficient in improving physical activity levels after stroke or TIA. Lifestyle interventions that specifically encourage increasing physical activity may be more effective. Further properly powered trials using objective physical activity measures are needed to determine the effectiveness of such interventions.

Trial registration

PROSPERO, CRD42018094437.
Neuroimaging pattern and pathophysiology of cerebellar stroke-like lesions in MELAS with m.3243A>G mutation: a case report
Authors: Oyama Munenori , Iizuka Takahiro , Nakahara Jin , Izawa Yoshikane
Published: May 2020

Background

Stroke-like episodes (SLEs) in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) with m.3243A > G mutation usually develop in the cerebral cortex. Few reports have documented SLEs in the cerebellum. The clinical neuroimaging features of cerebellar SLEs have not been fully investigated. We report distinctive features of cerebellar stroke-like lesions (SLLs) in a case of MELAS with m.3243A > G mutation.

Case presentation

A 47-year-old Japanese man with type-2 diabetes presented to our hospital with acute onset of aphasia. A brain MRI obtained on admission (day 1) showed increased diffusion-weighted imaging (DWI)/fluid-attenuated inversion recovery (FLAIR) signal in the left anterolateral temporal lobe, which subsequently spread along the cortex posteriorly accompanied by a new lesion in the right anterior temporal lobe. The patient was initially treated with acyclovir and subsequently with immunotherapy. However, on day 45, cerebellar ataxia developed. The brain MRI showed extensive increased DWI/FLAIR signals in the cerebellum along the folia without involvement of deep cerebellar nucleus or cerebellar peduncle; SLLs were incongruent with a vascular territory, similarly to classic cerebral SLLs. Apparent diffusion coefficient (ADC) map did not show reduction in ADC values in the affected folia. Genomic analysis revealed m.3243A > G mutation (heteroplasmy in leukocytes, 17%), confirming the diagnosis of MELAS. After the treatment with taurine (12,000 mg/day), L-arginine (12,000 mg/day), vitamin B1 (100 mg/day), and carnitine (3000 mg/day), the patient became able to follow simple commands, and he was transferred to a rehabilitation center on day 146. The follow-up MRI showed diffuse brain atrophy, including the cerebellum.

Conclusions

SLLs develop in the cerebellum in MELAS with m.3243A > G mutation. The neuroimaging similarities to cerebral SLLs suggest the presence of the common pathophysiological mechanisms underlying both SLEs, which include microangiopathy and increased susceptibility of the cortex to metabolic derangements.
Surgical outcomes of Glaucoma associated with Axenfeld-Rieger syndrome
Authors: Zepeda Emily M. , Branham Kari , Moroi Sayoko E. , Bohnsack Brenda L.
Published: May 2020

Background

The surgical management of glaucoma associated with Axenfeld-Rieger Syndrome (ARS) is poorly described in the literature. The goal of this study is to compare the effectiveness of various glaucoma surgeries on intraocular pressure (IOP) management in ARS.

Methods

Retrospective cohort study at a university hospital-based practice of patients diagnosed with ARS between 1973 and 2018. Exclusion criterion was follow-up less than 1 year. The number of eyes with glaucoma (IOP ≥ 21 mmHg with corneal edema, Haabs striae, optic nerve cupping or buphthalmos) requiring surgery was determined. The success and survival rates of goniotomy, trabeculotomy±trabeculectomy (no antifibrotics), cycloablation, trabeculectomy with anti-fibrotics, and glaucoma drainage device placement were assessed. Success was defined as IOP of 5-20 mmHg and no additional IOP-lowering surgery or visually devastating complications. Kaplan-Meier survival curves and the Wilcoxon test were used for statistical analysis.

Results

In 32 patients identified with ARS (median age at presentation 6.9 years, 0–58.7 years; median follow-up 5.4 years, 1.1–43.7 years), 23 (71.9%) patients were diagnosed with glaucoma at median age 6.3 years (0–57.9 years). In glaucomatous eyes (46 eyes), mean IOP at presentation was 21.8 ± 9.3 mmHg (median 20 mmHg, 4-45 mmHg) on 1.0 ± 1.6 glaucoma medications. Thirty-one eyes of 18 patients required glaucoma surgery with 2.2 ± 1.2 IOP-lowering surgeries per eye. Goniotomy (6 eyes) showed 43% success with 4.3 ± 3.9 years of IOP control. Trabeculotomy±trabeculectomy (6 eyes) had 17% success rate with 14.8 ± 12.7 years of IOP control. Trabeculectomy with anti-fibrotics (14 eyes) showed 57% success with 16.5 ± 13.5 years of IOP control. Ahmed© (FP7 or FP8) valve placement (8 eyes) had 25% success rate with 1.7 ± 1.9 years of IOP control. Baerveldt© (250 or 350) device placement (8 eyes) showed 70% success with 1.9 ± 2.3 years of IOP control. Cycloablation (4 eyes) had 33% success rate with 2.7 ± 3.5 years of IOP control. At final follow-up, mean IOP (12.6 ± 3.8 mmHg, median 11.8 mmHg, 7-19 mmHg) in glaucomatous eyes was significantly decreased (p < 0.0001), but there was no difference in number of glaucoma medications (1.6 ± 1.5, p = 0.1).

Conclusions

In our series, greater than 70% of patients with ARS have secondary glaucoma that often requires multiple surgeries. Trabeculectomy with anti-fibrotics and Baerveldt glaucoma drainage devices showed the greatest success in obtaining IOP control.
Understanding factors that contribute to variations in bronchiolitis management in acute care settings: a qualitative study in Australia and New Zealand using the Theoretical Domains Framework
Authors:   On behalf of the Paediatric Research in Emergency Departments International Collaborative (PREDICT) nectwork, Australia, Haskell Libby , Tavender Emma J. , Wilson Catherine , Babl Franz E. , Oakley Ed , Sheridan Nicolette , Dalziel Stuart R.
Published: May 2020

Background

Bronchiolitis is the most common reason for infants under one year of age to be hospitalised. Despite management being well defined with high quality evidence of no efficacy for salbutamol, adrenaline, glucocorticoids, antibiotics or chest x-rays, substantial variation in practice occurs. Understanding factors that influence practice variation is vital in order to tailor knowledge translation interventions to improve practice. This study explores factors influencing the uptake of five evidence-based guideline recommendations using the Theoretical Domains Framework.

Methods

Semi-structured interviews were undertaken with clinicians in emergency departments and paediatric inpatient areas across Australia and New Zealand exploring current practice, and factors that influence this, based on the Theoretical Domains Framework. Interview transcripts were coded using thematic content analysis.

Results

Between July and October 2016, 20 clinicians (12 doctors, 8 nurses) were interviewed. Most clinicians believed chest x-rays were not indicated and caused radiation exposure (beliefs about consequences). However, in practice their decisions were influenced by concerns about misdiagnosis, severity of illness, lack of experience (knowledge) and confidence in managing infants with bronchiolitis (skills), and parental pressure influencing practice (social influences). Some senior clinicians believed trialling salbutamol might be of benefit for some infants (beliefs about consequences) but others strongly discounted this, believing salbutamol to be ineffective, with high quality evidence supporting this (knowledge). Most were concerned about antibiotic resistance and did not believe in antibiotic use in infants with bronchiolitis (beliefs about consequences) but experienced pressure from parents to prescribe (social influences). Glucocorticoid use was generally believed to be of no benefit (knowledge) with concerns surrounding frequency of use in primary care, and parental pressure (social influences). Nurse’s reinforced evidence-based management of bronchiolitis with junior clinicians (social/professional role and identity). Regular turnover of medical staff, a lack of ‘paediatric confident’ nurses and doctors, reduced senior medical coverage after hours, and time pressure in emergency departments were factors influencing practice (environmental context and resources).

Conclusions

Factors influencing the management of infants with bronchiolitis in the acute care period were identified using the Theoretical Domains Framework. These factors will inform the development of tailored knowledge translation interventions.
Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1–58 deletion: a case report
Authors: Zhang Zhen , Chen Xin , Zhou Rui , Yin Huaixiang , Xu Jiali
Published: May 2020

Background

Neurofibromatosis-Noonan syndrome (NFNS) is a rare autosomal dominant hereditary disease. We present a case of NFNS due to the heterozygous deletion of exons 1–58 of the NF1 gene on chromosome 17 in a 15-month-old boy.

Case presentation

A 15-month-old boy was admitted for motor and language developmental delay, numerous café-au-lait spots, hypertelorism, left blepharoptosis, pectus excavatum, cryptorchidism, secondary atrial septal defect, and UBOs (undefined bright objects) revealed by cranial MRI T2FLAIR in basal ganglia and cerebellum. Using whole exome sequencing, we identified a de novo heterozygous deletion including exons 1–58 of the NF1 gene.

Conclusion

Although genetic tests are useful tools for diagnosis of NFNS, NF1, or NS, comprehensive analysis of genetic factors and phenotypes is indispensable in the clinical practice. To the best of our knowledge, this case presents the first Chinese NFNS case due to NF1 defects, and the NF1 exons 1–58 deletion-related phenotype is unlike any other reported case.
Cues for different diagnostic patterns of interpersonal violence in a psychiatric sample: an observational study
Authors: Talevi Dalila , Collazzoni Alberto , Rossi Alessandro , Stratta Paolo , Mazza Monica , Pacitti Francesca , Costa Manuela , Crescini Claudio , Rossi Rodolfo
Published: May 2020

Background

Interpersonal violence has increased as a health concern, especially in psychiatry practice, over the last decades. Nevertheless, most patients with stable mental disorders do not present an increased risk of violence, and mental disorder is not a necessary or sufficient cause of violent behaviours. People with mental disorders endorse more often a number of risk factors for violence that could confound this association, such as young age and male gender. The aim of this study was to investigate the effect of age, gender, and diagnosis on reported levels of interpersonal violence in a sample of people with severe mental illness.

Methods

The sample was composed of 160 inpatients: 73 with a psychosis within the schizophrenia spectrum, 53 with a mood disorder and 34 with a personality disorder. All patients enrolled in the study were assessed for experiences of victimization and perpetration of interpersonal violence using the Karolinska Interpersonal Violence Scale interview. Demographic variables were also collected.

Results

Both violence perpetration and victimization negatively correlated with age. Compared to males, females were exposed to higher degree of victimization in childhood and adulthood, whereas males were more involved in the perpetration of violence in childhood. Personality disorders were associated with higher levels of interpersonal violence, both perpetration and victimization; an interaction effect of gender and diagnosis was also observed for violence perpetration in adulthood. Distinct patterns of interpersonal violence did emerge for the diagnostic groups with mood disorder showing a victimization pattern, personality disorders a perpetration pattern and psychoses less defined patterns.

Conclusions

The main finding is that psychotic disorders, mood disorders and personality disorders have different patterns of violent experiences interacting with age and gender. This study offers a better understanding of how gender and age could affect violent behaviours. Moreover, study findings may increase the comprehension of the reason why some mental disorders, compared to others, are more associated with the risk of victimization or perpetration of violence. These patterns could have pathophysiological or pathoplastic meaning addressing clinical and diagnostic trajectories and they could interact with other intervening risk factors.
Association of fine particulate matter exposure with acute noncardiovascular critical illnesses and in-hospital outcomes in patients receiving intensive cardiac care
Authors: Chen Fei , Liu Qi , Huang Baotao , Huang Fangyang , Li Yiming , Peng Yong , Chen Mao
Published: May 2020

Background

The effect of short-term exposure to fine particulate matter (PM2.5) on the incidence of acute noncardiovascular critical illnesses (ANCIs) and clinical outcomes is unknown in patients with acute cardiovascular diseases.

Methods

We conducted a retrospective study in 2337 admissions to an intensive cardiac care unit (ICCU) from June 2016 to May 2017. We used the 2-day average PM2.5 concentration before ICCU admission to estimate the individual exposure level, and patients were divided into 3 groups according to the concentration tertiles. Major ANCI was defined as the composite of acute respiratory failure, acute kidney injury, gastrointestinal hemorrhage, or sepsis. The primary endpoint was all-cause death or discharge against medical advice in extremely critical condition.

Results

During the 12-month study period, the annual median concentration of PM2.5 in Chengdu, China was 48 μg/m3 (IQR, 33–77 μg/m3). More than 20% of admissions were complicated by major ANCI, and the primary endpoints occurred in 7.6% of patients during their hospitalization. The association of short-term PM2.5 exposure levels with the incidence of acute respiratory failure (adjusted OR [odds ratio] =1.31, 95% CI [confidence interval]1.12–1.54) and acute kidney injury (adjusted OR = 1.20, 95% CI 1.02–1.41) showed a significant trend. Additionally, there were numerically more cases of sepsis (adjusted OR = 1.21, 95% CI 0.92–1.60) and gastrointestinal hemorrhage (adjusted OR = 1.29, 95% CI 0.94–1.77) in patients with higher exposure levels. After further multivariable adjustment, short-term PM2.5 exposure levels were still significantly associated with incident major ANCI (adjusted OR = 1.32, 95% CI 1.12–1.56), as well as a higher incidence of the primary endpoint (adjusted OR = 1.52, 95% CI 1.09–2.12).

Conclusion

Short-term PM2.5 exposure before ICCU admission was associated with an increased risk of incident major ANCI and worse in-hospital outcomes in patients receiving intensive cardiac care.