616 research outputs found
Poems
Poems include: Sometimes, I Like to Walk the Shore, by Michelle L. Haymon and Transitory, by Dick Pearso
When should patients with mitral valve prolapse get endocarditis prophylaxis?
Patients with suspected mitral valve prolapse (MVP)should undergo echocardiography before any procedure that may place them at risk for bacteremia. Patients with MVP and documented absence of mitral regurgitation or valvular thickening likely do not need antibiotic prophylaxis against subacute bacterial endocarditis (SBE). Patients with MVP with documented mitral regurgitation, valvular thickening, or an unknown degree of valvular dysfunction may benefit from antibiotics during procedures that often lead to bacteremia (strength of recommendation: C)
What is the diagnostic approach to a 1-year-old with chronic cough?
Very few studies examine the evaluation of chronic cough among young children. Based on expert opinion, investigation of chronic cough should begin with a detailed history, physical examination, and chest radiograph (strength of recommendation [SOR]: C, expert opinion). Before pursuing additional studies, remove potential irritants from the patient's environment. Work-up for persisting cough should consider congenital anomalies and then be directed toward common causes of chronic cough like those seen in older children and adults, including postnasal drip syndrome, gastroesophageal reflux disease (GERD), and asthma (SOR: C)
The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile
OBJECTIVE: The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme replacement.
METHODS: Clinical features of 6 patients with SMA-PME were assessed by retrospective chart review, and a literature review of 24 previously published cases was performed. Leukocyte enzyme activity of acid ceramidase was assessed with a fluorescence-based assay. Skin fibroblast ceramide content and was assessed by high performance liquid chromatography, electrospray ionization tandem mass spectroscopy. Enzyme replacement was assessed using recombinant human acid ceramidase (rhAC) in vitro.
RESULTS: The six new patients showed the hallmark features of SMA-PME, with variable initial symptom and age of onset. Five of six patients carried at least one of the recurrent SMA-PME variants observed in two specific codons of ASAH1. A review of 30 total cases revealed that patients who were homozygous for the most common c.125C \u3e T variant presented in the first decade of life with limb-girdle weakness as the initial symptom. Sensorineural hearing loss was associated with the c.456A \u3e C variant. Leukocyte acid ceramidase activity varied from 4.1%-13.1% of controls. Ceramide species in fibroblasts were detected and total cellular ceramide content was elevated by 2 to 9-fold compared to controls. Treatment with rhAC normalized ceramide profiles in cultured fibroblasts to control levels within 48 h.
INTERPRETATION: This study details the genotype-phenotype correlations observed in SMA-PME and shows the impact of rhAC to correct the abnormal cellular ceramide profile in cells
Daily Use of Protective Behavioral Strategies and Alcohol-Related Outcomes Among College Students
The purpose of the present study was to examine associations between use of protective behavioral strategies (PBS) and alcohol-related outcomes (alcohol consumption, negative alcohol consequences, and positive alcohol consequences) using a daily diary approach. This approach is less affected by retrospective memory biases than typical self-reports of alcohol-related variables and allows the examination of both between-subjects and within-person effects. Using hierarchical linear modeling of data from 40 subjects who completed daily dairies for up to 15 days, we found significant within-person variation in PBS use over time, and each type of PBS had unique relationships with alcohol-related outcomes. For example, within-person variation in Serious Harm Reduction, one form of PBS, predicted increased daily alcohol use, negative consequences, and positive consequences. Our findings suggest the importance of intensive longitudinal methods to examine both between-subjects and within-subjects effects of PBS use and alcohol-related outcomes
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Association of persistent and severe postnatal depression with child outcomes
IMPORTANCE Maternal postnatal depression (PND) is common and associated with adverse child outcomes. These effects are not inevitable, and it is critical to identify those most at risk. Previous work suggests that the risks of adverse outcomes are increased when PND is severe
and persistent, but this has not been systematically studied.
OBJECTIVE To examine the association between differing levels of persistence and severity of PND and long-term child outcomes.
DESIGN, SETTING, AND PARTICIPANTS The sample for this observational study comprised participants in the Avon Longitudinal Study of Parents and Children in the United Kingdom. Three thresholds of PND severity—moderate, marked, and severe—were defined using the self-rated Edinburgh Postnatal Depression Scale (EPDS). Depression was defined as persistent when the EPDS score was above the threshold level at both 2 and 8 months after
childbirth. For each of these severity and persistence categories, the following were examined: (1) the trajectories of later EPDS scores (6 time points between 21 months and 11 years after childbirth) and (2) child outcomes—behavioral problems at 3.5 years of age,
school-leaving mathematics grades at 16 years of age, and depression at 18 years of age. Data analysis was conducted from July 12, 2016, to February 8, 2017.
MAIN OUTCOMES AND MEASURES Child behavioral problems at 3.5 years of age using the Rutter total problems scale, school-leaving mathematics grades at 16 years of age extracted from records of external national public examinations, and offspring depression at 18 years of
age using the Clinical Interview Schedule–Revised.
RESULTS For the 9848 mothers in the sample, the mean (SD) age at delivery was 28.5 (4.7) years. Of the 8287 children, 4227 (51%) were boys and 4060 (49%) were girls. Compared with women with PND that was not persistent and women who did not score above the EPDS threshold, for all 3 severity levels, women with persistent PND showed elevated depressive symptoms up to 11 years after childbirth. Whether persistent or not, PND doubled the risk of child behavior disturbance. The odds ratio (OR) for child behavioral disturbance for mothers
with moderate PND was 2.22 (95% CI, 1.74-2.83), for mothers with marked PND was 1.91 (95% CI, 1.36-2.68), and for mothers with severe PND was 2.39 (95% CI, 1.78-3.22).
Persistence of severe PND was particularly important to child development, substantially increasing the risk for behavioral problems at 3.5 years of age (OR, 4.84; 95% CI, 2.94-7.98), lower mathematics grades at 16 years of age (OR, 2.65; 95% CI, 1.26-5.57), and higher prevalence of depression at 18 years of age (OR, 7.44; 95% CI, 2.89-19.11).
CONCLUSIONS AND RELEVANCE Persistent and severe PND substantially raises the risk for adverse outcome on all child measures. Meeting criteria for depression both early and late in the postnatal year, especially when the mood disturbance is severe, should alert health care
professionals to a depression that is likely to be persistent and to be associated with an especially elevated risk of multiple adverse child outcomes. Treatment for this group should be prioritized
The Imprinted Retrotransposon-Like Gene PEG11 (RTL1) Is Expressed as a Full-Length Protein in Skeletal Muscle from Callipyge Sheep
peer-reviewedMembers of the Ty3-Gypsy retrotransposon family are rare in mammalian genomes despite their abundance in invertebrates and some vertebrates. These elements contain a gag-pol-like structure characteristic of retroviruses but have lost their ability to retrotranspose into the mammalian genome and are thought to be inactive relics of ancient retrotransposition events. One of these retrotransposon-like elements, PEG11 (also called RTL1) is located at the distal end of ovine chromosome 18 within an imprinted gene cluster that is highly conserved in placental mammals. The region contains several conserved imprinted genes including BEGAIN, DLK1, DAT, GTL2 (MEG3), PEG11 (RTL1), PEG11as, MEG8, MIRG and DIO3. An intergenic point mutation between DLK1 and GTL2 causes muscle hypertrophy in callipyge sheep and is associated with large changes in expression of the genes linked in cis between DLK1 and MEG8. It has been suggested that over-expression of DLK1 is the effector of the callipyge phenotype; however, PEG11 gene expression is also strongly correlated with the emergence of the muscling phenotype as a function of genotype, muscle type and developmental stage. To date, there has been no direct evidence that PEG11 encodes a protein, especially as its anti-sense transcript (PEG11as) contains six miRNA that cause cleavage of the PEG11 transcript. Using immunological and mass spectrometry approaches we have directly identified the full-length PEG11 protein from postnatal nuclear preparations of callipyge skeletal muscle and conclude that its over-expression may be involved in inducing muscle hypertrophy. The developmental expression pattern of the PEG11 gene is consistent with the callipyge mutation causing recapitulation of the normal fetal-like gene expression program during postnatal development. Analysis of the PEG11 sequence indicates strong conservation of the regions encoding the antisense microRNA and in at least two cases these correspond with structural or functional domains of the protein suggesting co-evolution of the sense and antisense genes
Alcohol Use and Trauma Exposure Among Male and Female Veterans Before, During, and After Military Service
Background: The present study examined lifespan and combat-related trauma exposure as predictors of alcohol use among male and female veterans. Posttraumatic stress and depressive symptoms were examined as mediators of the effects of trauma exposure on alcohol use.
Methods: Data were examined from 1825 (1450 male, 375 female) veterans and active duty service members who took part in a multi-site research study conducted through the Department of Veterans Affairs Mid-Atlantic Mental Illness Research, Education and Clinical Center (VISN 6 MIRECC).
Results: For both men and women, depressive symptoms significantly mediated the effects of non-combat trauma exposure experienced before, during and after the military, as well as combat-exposure, on alcohol use. With posttraumatic stress symptoms, the models for men and women differed. For men, the effects of non-combat trauma exposure during and after military service, and combat exposure, on alcohol use were mediated by PTSD symptoms; however, for women, PTSD symptoms did not mediate these relationships.
Conclusion: Findings are discussed in the context of potential gender differences in response to trauma such as use of alcohol to cope with traumatic events
Balancing Responsibilities – Financial Literacy
In Australia there is an obligation to promote the informed participation of financial consumers while in South Africa there is an obligation to educate consumers. The Australian obligation is concerned with the financial system as a whole while the South African obligation has generally been focused on general financial education as a tool to promote financial inclusion. There is no obligation for consumers to attain a minimum standard of literacy in credit or finance generally. Financial literacy is one among a number of strategies directed towards inducing changes in consumer behaviour. It sits between the old regulatory model which relies on disclosure of information for effective and rational decision-making and a newer regulatory model which takes into account individuals' perceptions and behavioural biases and may seek to accommodate for these by imposing obligations on financial services providers beyond the mere disclosure of information. Financial literacy is generally the ability to understand how money works, how a person can earn money or make it more. It specifically refers to the set of skills and knowledge that allows people to make informed and effective decisions with all of their financial resources. This article discusses Australian and South African legal obligations and social responsibilities aimed at promoting the financial literacy of consumers.
 
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