Lysosomal storage disorders (LSDs) are a heterogeneous group of approximately 50 rare inherited metabolic conditions that result from enzyme deficiencies that interfere with lysosome function. Although often grouped together, there is great variability regarding age of onset, severity, treatment, and outcomes for each disorder and subtype. Currently, laboratory methods are available to test newborns for seven of these conditions. Although newborn screening programs remain state-based, each at a different phase of condition review and implementation, if newborn screening for LSDs has not yet been adopted by the state within which you practice, it likely will.
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Τρίτη 17 Απριλίου 2018
Newborn Screening for Lysosomal Storage Disorders
Why is it Different This Time?
I thought I might never have to write another editorial on the epidemic of school shootings, with my last such contribution being 5 years ago after 20 first graders and 6 staff members in my tiny home state of Connecticut lost their lives. Since that awful day in December 2012, there have been over 200 school shootings, in which over 400 children and school staff have been shot and over 130 have been killed. Such tragedies have also occurred in churches, concerts, theaters, and other public places.
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The End of My Term
It is amazing how slow a day can be, but a year can fly by. So much has changed in the last year, much of it for the better. Our new initiatives, NAPNAP Partners for Vulnerable Youth and the Alliance for the Care Coordination of Children in Human Trafficking, blossomed into more than we could have hoped for. I was able to go to Washington, DC twice to advocate for the Stop Enabling Sex Traffickers Act (SESTA) and Stop, Observe, Ask and Respond (SOAR) bills, as well as the Children's Health Insurance Program (CHIP) extension.
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Improving Postoperative Neonatal Nutritional Practices in an Intensive Care Unit Using the PDSA Cycle
Quality Improvement models offer a framework for health care professionals to follow in implementing process improvement changes. Use of these models promotes a systematic approach to problem solving, keeps providers from eliminating important steps, facilitates team work, and provides a clear plan for ongoing communication. This paper describes use of the Plan-Do-Study-Act model to implement a unit-based quality improvement project that focused on improving postoperative nutritional practices for neonates with critical congenital heart disease following complex cardiac surgery.
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The role of Scalpel-bougie cricothyroidotomy in managing emergency Front of Neck Airway access. A review and technical update for ENT surgeons.
Related Articles |
The role of Scalpel-bougie cricothyroidotomy in managing emergency Front of Neck Airway access. A review and technical update for ENT surgeons.
Clin Otolaryngol. 2018 Apr 15;:
Authors: McNiven ND, Pracy JP, McGrath BA, Robson AK
Abstract
In October 2016 an editorial was published jointly in Clinical Otolaryngology and the British Journal of Anaesthesia concerning the appropriate management of the difficult airway in a situation of 'Can't Intubate Can't Oxygenate' (CICO).1 It highlighted the importance of joint working between surgeons and anaesthetists and also made a case for the wider use of the scalpel-bougie cricothyroidotomy technique in securing a Front of Neck Airway (FONA), especially in an emergency. This article is protected by copyright. All rights reserved.
PMID: 29656528 [PubMed - as supplied by publisher]
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Comparison between three types of prosthetic feet: a randomized double-blind single-subject multiple-rater trial
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Self-reported upper limb functioning of pupils with cerebral palsy by the International Classification of Functioning, Disability, and Health
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Motor learning in dystonia: distorted feedback results in distorted motor learning and information-seeking compensatory behaviour
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Whole Genome Sequence of an Edible and Potential Medicinal Fungus, Cordyceps guangdongensis
Cordyceps guangdongensis is an edible fungus which was approved as a novel food by the Chinese Ministry of Public Health in 2013. It also has a broad prospect of application in pharmaceutical industries, with many medicinal activities. In this study, the whole genome of C. guangdongensis GD15, a single spore isolate from a wild strain, was sequenced and assembled with Illumina and PacBio sequencing technology. The generated genome is 29.05 Mb in size, comprising nine scaffolds with an average GC content of 57.01%. It is predicted to contain a total of 9150 protein-coding genes. Sequence identification and comparative analysis indicated that the assembled scaffolds contained two complete chromosomes and four single-end chromosomes, showing a high level assembly. Gene annotation revealed a diversity of transposons that could contribute to the genome size and evolution. Besides, approximately 15.57% and 12.01% genes involved in metabolic processes were annotated by KEGG and COG respectively. Genes belonging to CAZymes accounted for 3.15% of the total genes. In addition, 435 transcription factors, involved in various biological processes, were identified. Among the identified transcription factors, the fungal transcription regulatory proteins (18.39%) and fungal-specific transcription factors (19.77%) represented the two largest classes of transcription factors. This genomic resource provided a new insight into better understanding the relevance of phenotypic characters and genetic mechanisms in C. guangdongensis.
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Effect of Larval Nutrition on Maternal mRNA Contribution to the Drosophila Egg
Embryonic development begins under the control of maternal gene products, mRNAs and proteins that the mother deposits into the egg; the zygotic genome is activated some time later. Maternal control of early development is conserved across metazoans. Gene products contributed by mothers are critical to many early developmental processes, and set up trajectories for the rest of development. Maternal deposition of these factors is an often-overlooked aspect of parental investment. If the mother experiences challenging environmental conditions, such as poor nutrition, previous studies in Drosophila melanogaster have demonstrated a plastic response wherein these mothers may produce larger eggs to buffer the offspring against the same difficult environment. This additional investment can produce offspring that are more fit in the challenging environment. With this study, we ask whether D. melanogaster mothers who experience poor nutrition during their own development change their gene product contribution to the egg. We perform mRNA-Seq on eggs at a stage where all mRNAs are maternally derived, from mothers with different degrees of nutritional limitation. We find that nutritional limitation produces similar transcript changes at all degrees of limitation tested. Genes that have lower transcript abundance in nutritionally limited mothers are those involved in translation, which is likely one of the most energetically costly processes occurring in the early embryo. We find an increase in transcripts for transport and localization of macromolecules, and for the electron transport chain. The eggs produced by nutrition-limited mothers show a plastic response in mRNA deposition, which may better prepare the future embryo for development in a nutrition-limited environment.
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A Catalogue of Putative cis-Regulatory Interactions Between Long Non-coding RNAs and Proximal Coding Genes Based on Correlative Analysis Across Diverse Human Tumors
Antisense transcripts and other long non-coding RNAs are pervasive in mammalian cells, and some of these molecules have been proposed to regulate proximal protein-coding genes in cis. For example, non-coding transcription can contribute to inactivation of tumor suppressor genes in cancer, and antisense transcripts have been implicated in the epigenetic inactivation of imprinted genes. However, our knowledge is still limited and more such regulatory interactions likely await discovery. Here, we make use of available gene expression data from a large compendium of human tumors to generate hypotheses regarding non-coding-to-coding cis-regulatory relationships with emphasis on negative associations, as these are less likely to arise for reasons other than cis-regulation. We document a large number of possible regulatory interactions, including 193 coding/non-coding pairs that show expression patterns compatible with negative cis-regulation. Importantly, by this approach we capture several known cases, and many of the involved coding genes have known roles in cancer. Our study provides a large catalogue of putative non-coding/coding cis-regulatory pairs that may serve as a basis for further experimental validation and characterization.
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PlanHab*: hypoxia does not worsen the impairment of skeletal muscle oxidative function induced by bed rest alone
The Journal of Physiology, EarlyView.
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Longer sitting time and low physical activity are closely associated with chronic low back pain in population over 50 years of age: a cross-sectional study using the sixth korea national health and nutrition examination survey
There is increasing evidence supporting an association between sitting time and low back pain (LBP). However, the degree of the association between the total daily sitting time and LBP in the general population is poorly understood.
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Germline variants in pancreatic cancer patients with a personal or family history of cancer fulfilling the revised Bethesda guidelines
Abstract
Background
Pancreatic cancer (PC) is categorized as a neoplasm associated with Lynch syndrome; however, the precise proportion of PC patients harboring DNA mismatch repair genes (MMR genes) remains unclear, especially in the Asian population.
Methods
Among 304 Japanese patients with pathologically proven pancreatic ductal adenocarcinoma, we selected 20 (6.6%) patients with a personal or family history involving first- or second-degree relatives fulfilling the revised Bethesda guidelines (RBG), defined as RBG-compatible cases. We analyzed germline variants in 21 genes related to a hereditary predisposition for cancer as well as clinical features in all 20 cases.
Results
The RBG-compatible cases did not show any unique clinicopathological features. Targeted sequencing data revealed three patients carrying deleterious or likely deleterious variants. Specifically, these three patients harbored a nonsense variant in ATM, a frameshift variant in ATM, and a concurrent nonsense variant in PMS2 and missense variant in CHEK2 (double-mutation carrier), respectively. Although an MMR gene mutation was identified in only one of the 20 patients, up to 15% of the RBG-compatible PC cases were associated with germline deleterious or likely deleterious variants.
Conclusions
These findings showed that these guidelines could be useful for identifying PC patients with DNA damage repair genes as well as MMR genes.
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Heterogeneity among hospitals statewide in percentage shares of the annual growth of surgical caseloads of inpatient and outpatient major therapeutic procedures
Suppose that it were a generalizable finding, in both densely populated and rural states, that there is marked heterogeneity among hospitals in the percentage change in surgical caseload and/or in the total change in caseload. Then, individual hospitals should not simply rely on federal and state forecasts to infer their expected growth. Likewise, individual hospitals and their anesthesiology groups would best not rely on national or US regional surgical trends as causal reasons for local trends in caseload.
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Distinctiveness and Similarities Between Extended-Spectrum β-Lactamase-Producing Escherichia coli Isolated from Cattle and the Community in Israel
Microbial Drug Resistance, Ahead of Print.
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Physical Activity Throughout the Adult Life Span and Domain-Specific Cognitive Function in Old Age: A Systematic Review of Cross-Sectional and Longitudinal Data
Abstract
Background
A growing body of literature suggests that physical activity might alleviate the age-related neurodegeneration and decline of cognitive function. However, most of this evidence is based on data investigating the association of exercise interventions or current physical activity behavior with cognitive function in elderly subjects.
Objective
We performed a systematic review and hypothesize that physical activity during the adult life span is connected with maintained domain-specific cognitive functions during late adulthood defined as age 60+ years.
Methods
We performed a systematic literature search up to November 2017 in PubMed, Web of Science, and Google Scholar without language limitations for studies analyzing the association of leisure physical activity during the adult life span (age 18+ years) and domain-specific cognitive functions in older adults (age 60+ years).
Results
The literature review yielded 14,294 articles and after applying inclusion and exclusion criteria, nine cross-sectional and 14 longitudinal studies were included. Moderate- and vigorous-intensity leisure physical activity was associated with global cognitive function and specific cognitive domains including executive functions and memory but not attention or working memory. Most studies assessed mid- to late-adulthood physical activity, thus information concerning the influence of young adult life-span physical activity is currently lacking.
Conclusions
Observational evidence that moderate- and vigorous-intensity leisure physical activity is beneficially associated with maintained cognitive functions during old age is accumulating. Further studies are necessary to confirm a causal link by assessing objective physical activity data and the decline of cognitive functions at multiple time points during old age.
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Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts [Genetics]
LMNA encodes the A-type lamins that are part of the nuclear scaffold. Mutations in LMNA can cause a variety of disorders called laminopathies, including Hutchinson-Gilford progeria syndrome (HGPS), atypical Werner syndrome, and Emery-Dreifuss muscular dystrophy. Previous work has shown that treatment of HGPS cells with the mTOR inhibitor rapamycin or...
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Reply to Gilchrist et al.: Possible roles for VAC14 in multiple infectious diseases [Biological Sciences]
Our studies of the SNP rs8060947 determine that the A allele is associated with increased invasion of Salmonella enterica serovar Typhi and increased susceptibility to typhoid fever (1). Gilchrist et al. (2) now provide evidence that the A allele is also associated with increased risk for bacteremia, and the association...
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Genetic variation in VAC14 is associated with bacteremia secondary to diverse pathogens in African children [Biological Sciences]
Performing a genome-wide association study of Salmonella enterica serovar Typhi (S. Typhi) invasion, Alvarez et al. (1) identify a trait-associated SNP, rs8060947, in VAC14. rs8060947 is an expression quantitative trait locus for VAC14 RNA expression, and carriage of the A allele is associated with reduced VAC14 RNA and protein expression,...
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Autochthonous tumors driven by Rb1 loss have an ongoing requirement for the RBP2 histone demethylase [Genetics]
Inactivation of the retinoblastoma gene (RB1) product, pRB, is common in many human cancers. Targeting downstream effectors of pRB that are central to tumorigenesis is a promising strategy to block the growth of tumors harboring loss-of-function RB1 mutations. One such effector is retinoblastoma-binding protein 2 (RBP2, also called JARID1A or...
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High-accuracy lagging-strand DNA replication mediated by DNA polymerase dissociation [Genetics]
The fidelity of DNA replication is a critical factor in the rate at which cells incur mutations. Due to the antiparallel orientation of the two chromosomal DNA strands, one strand (leading strand) is replicated in a mostly processive manner, while the other (lagging strand) is synthesized in short sections called...
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Transcriptional mutagenesis mediated by 8-oxoG induces translational errors in mammalian cells [Genetics]
Reactive oxygen species formed within the mammalian cell can produce 8-oxo-7,8-dihydroguanine (8-oxoG) in mRNA, which can cause base mispairing during gene expression. Here we found that administration of 8-oxoGTP in MTH1-knockdown cells results in increased 8-oxoG content in mRNA. Under this condition, an amber mutation of the reporter luciferase is...
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CrewCare Introduction
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Paramedic receives positivity after being criticized for getting food
By EMS1 Staff LOUGHBOROUGH, England — A paramedic who tweeted about being criticized while getting food said he received a huge amount of support from the public. BBC reported that East Midlands Ambulance Service duty operations manager Tim Hargraves was making a food stop during a 10-hour shift when a stranger made a rude comment. "I had to wait for an ambulance, nice you have time to eat," ...
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Sinusoidal voltage protocols for rapid characterisation of ion channel kinetics
The Journal of Physiology, EarlyView.
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Where do satellite cells orbit? An endomysium space odyssey
The Journal of Physiology, EarlyView.
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A single exercise bout and locomotor learning after stroke: physiological, behavioural, and computational outcomes
The Journal of Physiology, EarlyView.
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Differential effects of vision upon the accuracy and precision of vestibular‐evoked balance responses
The Journal of Physiology, EarlyView.
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Acute cardiovascular exercise does not enhance locomotor learning in people with stroke
The Journal of Physiology, EarlyView.
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Plasticity of transcallosal pathways after stroke and their role in recovery
The Journal of Physiology, EarlyView.
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CrewCare Introduction
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Role of side-slip flight in target pursuit: blue-tailed damselflies ( Ischnura elegans ) avoid body rotation while approaching a moving perch
Abstract
Visually guided flight control requires processing changes in the visual panorama (optic-flow) resulting from self-movement relative to stationary objects, as well as from moving objects passing through the field of view. We studied the ability of the blue-tailed damselfly, Ischnura elegans, to successfully land on a perch moving unpredictably. We tracked the insects landing on a vertical pole moved linearly 6 cm back and forth with sinusoidal changes in velocity. When the moving perch changed direction at frequencies higher than 1 Hz, the damselflies engaged in manoeuvres that typically involved sideways flight, with minimal changes in body orientation relative to the stationary environment. We show that these flight manoeuvres attempted to fix the target in the centre of the field of view when flying in any direction while keeping body rotation changes about the yaw axis to the minimum. We propose that this pursuit strategy allows the insect to obtain reliable information on self and target motion relative to the stationary environment from the translational optic-flow, while minimizing interference from the rotational optic-flow. The ability of damselflies to fly in any direction, irrespective of body orientation, underlines the superb flight control of these aerial predators.
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Learn about stress and mental health with CrewCare
You Are Invited Join us April 19th to learn how the CrewCare project is a vital resource in understanding how stress plays a role in the lives of crew members, organizations and the first responder industry. CrewCare was created in response to growing concerns about mental health. ImageTrend and the collaborative minds behind the project are committed to making a positive impact on the daily struggles ...
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CrewCare Introduction
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CrewCare Introduction
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Correction to: Relative Age Effects Across and Within Female Sport Contexts: A Systematic Review and Meta-Analysis
An Online First version of this article was made available at https://link.springer.com/article/10.1007/s40279-018-0890-8 on 13 March 2018. Some errors were subsequently identified by the authors, particularly in regard to Table 4. Although the details pertained to in the table were correct in the original manuscript, it appears that errors were introduced during production of the article. The published article has now been updated with a corrected version of Table 4. This corrected version of the table is also shown below.
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Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well‐established knowledge to new frontiers
American Journal of Medical Genetics Part A, EarlyView.
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A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases
American Journal of Medical Genetics Part A, EarlyView.
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Soft tissue nasal asymmetry as an indicator of orofacial cleft predisposition
American Journal of Medical Genetics Part A, EarlyView.
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Three patients with DeSanto‐Shinawi syndrome: Further phenotypic delineation
American Journal of Medical Genetics Part A, EarlyView.
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A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome
American Journal of Medical Genetics Part A, EarlyView.
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Choroid plexus hyperplasia and chromosome 9p gains
American Journal of Medical Genetics Part A, EarlyView.
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Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features
American Journal of Medical Genetics Part A, EarlyView.
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Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long‐term outcome
American Journal of Medical Genetics Part A, EarlyView.
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Should you outsource your ambulance billing or keep it in house?
Weigh the pros and cons of partnering with a billing partner to maximize your revenue
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A case of Behçet’s disease with various gastrointestinal findings
Abstract
Behçet's disease (BD) is a systemic inflammatory disorder involving the oral and genital mucosa, skin, eyes, gastrointestinal tract, joints, vasculature, and nervous. The gastrointestinal lesions accompanying with BD can extend along the full length of the tract, from the mouth to the anus, and show various clinical characteristics which is difficult to be differentiate from the other inflammatory bowel diseases including ulcerative colitis and Crohn's disease. Hence, the differential diagnosis is difficult and can affect treatment outcomes. We report here, a BD case showing varied gastrointestinal lesions and endoscopic findings. The information, endoscopic findings, differential diagnosis, and treatment approach in this case might help physicians to distinguish from other diseases and to manage similar cases
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7.1-O1Ethnic differences in the development of cardiovascular disease risk factors in children and young people with type 1 diabetes – a prospective longitudinal study in the UK
5.1-O6A baseline for primary prevention of sexual and gender-based violence in European asylum reception facilities
1.10-P12WHO response to the health emergency of Syrian refugees in Turkey
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4.5-O6Beyond medical practice: cultural and linguistic training of refugee doctors for integration and employment in the United Kingdom
1.10-P17Developing a diversity curriculum in medical education: a story of interuniversity collaboration in Belgium
5.6-W1Migration, ethnicity, race and health in Scotland – what’s going on here, and what could we do better?
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6.5-O2Knowledge, attitude and risk perception of Ebola Virus Disease amongst a predominant Hausa/Fulani Ethnic rural community in North Western Nigeria
1.10-P19Adoption of guidelines concerning medical examinations on arrival for asylum seekers and refugees: systematic review of the literature and proposals for an implementation plan in Italy
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1.10-P2The Oxford (UK) Refugee Health Initiative project: medical students supporting refugee families to provide healthcare advocacy and develop skills to care for vulnerable groups of patients
- To develop and pilot an enhanced primary care service
- To support medical students in developing skills to support refugees seeking healthcare.
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4.11-P18Human rights and migration: perspectives of Zimbabwean migrants living in Johannesburg, South Africa
- Identify major factors driving migration from Zimbabwe to South Africa in general and Johannesburg, in particular.
- Explore the migration experience and challenges, including human rights violations that the migrants have experienced.
- Gain an understanding of migrants' coping mechanisms and survival strategies.
- Explore ways through which the migrants engaged with their host and home communities, including the role of remittances.
- Understand how participants saw their future.
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1.10-P20Practitioner competencies for working with refugee and asylum seeker children and young people: a systematic review
Differential recruitment of brain networks in single-digit addition and multiplication: Evidence from EEG oscillations in theta and lower alpha bands
Publication date: Available online 16 April 2018
Source:International Journal of Psychophysiology
Author(s): Lihan Wang, John Q. Gan, Li Zhang, Haixian Wang
Previous neuroimaging research investigating dissociation between single-digit addition and multiplication has suggested that the former placed more reliance on the visuo-spatial processing whereas the latter on the verbal processing. However, there has been little exploration into the disassociation in spatio-temporal dynamics of the oscillatory brain activity in specific frequency bands during the two arithmetic operations. To address this issue, the electroencephalogram (EEG) data were recorded from 19 participants engaged in a delayed verification arithmetic task. By analyzing oscillatory EEG activity in theta (5–7 Hz) and lower alpha frequency (9–10 Hz) bands, we found different patterns of oscillatory brain activity between single-digit addition and multiplication during the early processing stage (0–400 ms post-operand onset). Experiment results in this study showed a larger phasic increase of theta-band power for addition than for multiplication in the midline and the right frontal and central regions during the operator and operands presentation intervals, which was extended to the right parietal and the right occipito-temporal regions during the interval immediately after the operands presentation. In contrast, during multiplication higher phase-locking in lower alpha band was evident in the centro-parietal regions during the operator presentation, which was extended to the left fronto-central and anterior regions during the operands presentation. Besides, we found stronger theta phase synchrony between the parietal areas and the right occipital areas for single-digit addition than for multiplication during operands encoding. These findings of oscillatory brain activity extend the previous observations on functional dissociation between the two arithmetic operations.
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Health Maintenance in Inflammatory Bowel Disease
Abstract
Purpose of Review
Patients with inflammatory bowel disease (IBD) are not receiving preventative care services at the same rate as the general population. IBD patients are at increased risk for infections, osteoporosis, and certain malignancies secondary to their disease and as they are on immunosuppressive therapy. They are a younger population and often times consider their gastroenterologist as their primary care physician. In this review, we discuss up-to-date evidence pertaining to vaccine-preventable illnesses in the immunosuppressed IBD patient, screening for bone health, cervical cancer, skin malignancies, psychological wellbeing, and smoking cessation.
Recent Findings
Vaccinations are recommended in the IBD population as they are immunosuppressed and at increased risk for acquiring influenza and pneumonia. Not only are they at greater risk to acquire it but they also have a much severe complicated course. Ideally, IBD patients should be vaccinated prior to initiating immunosuppression and most inactive vaccines can be administered to them while they are on therapy. All IBD patients should be encouraged to stop smoking and have adequate vitamin D intake along with appropriate applicable cancer screenings.
Summary
Gastroenterologists must work in collaboration with primary care providers along with other specialists to help provide our patients well-rounded care for their IBD.
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