129 research outputs found
Management of severe aortic valve stenosis in the neonate
Aortic valve stenosis (AS) causing obstruction to the left
ventricular outfl ow, and hence reduction of the cardiac output,
remains a therapeutic challenge for paediatric cardiologists
and cardiothoracic surgeons.
Infants that present at birth may have very dysplastic valves
with severe or critical AS and are typically the most diffi cult
to treat. This article therefore focuses on the management
of severe AS in the neonate. This article also revises the
embryology of the semi-lunar valves, as the morphology
of the aortic valve often dictates the treatment pathway.http://www.saheart.org/journal/index.php?journal=SAHJam201
The diagnosis and management of congenital pulmonary valve stenosis
Congenital pulmonary stenosis (PS) is one of the most
prevalent congenital cardiac abnormalities. A thorough
assessment is needed to determine which of the many
patients born with PS, will need intervention and
further management, and which will only need routine
follow up. Accurate non-invasive assessment of the
severity of the PS at transthoracic echocardiography
is therefore important. This article will discuss and
delineate the diagnostic approach to, and management
of, a patient with congenital PS.http://www.saheart.org/journalam2019Paediatrics and Child Healt
Unusual case of congenitally unguarded tricuspid valve orifice associated with pulmonary valve atresia and intact ventricular septum
We report on a premature neonate who presented with cyanosis soon after birth. She was found on echocardiography to have an unguarded tricuspid valve orifice associated with pulmonary valve atresia and an intact interventricular septum. Owing to the small-sized pulmonary arteries, she was initially managed conservatively with prostaglandin infusion, and at one year of age underwent a successful bidirectional cavo-pulmonary (Glenn) shunt operation.http://www-onlinelibrary.wiley.co
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Femoral Artery Atherosclerosis Is Associated With Physical Function Across the Spectrum of the Ankle-Brachial Index: The San Diego Population Study.
BackgroundThe ankle-brachial index (ABI) is inadequate to detect early-stage atherosclerotic disease, when interventions to prevent functional decline may be the most effective. We determined associations of femoral artery atherosclerosis with physical functioning, across the spectrum of the ABI, and within the normal ABI range.Methods and resultsIn 2007-2011, 1103 multiethnic men and women participated in the San Diego Population Study, and completed all components of the summary performance score. Using Doppler ultrasound, superficial and common femoral intima media thickness and plaques were ascertained. Logistic regression was used to assess associations of femoral atherosclerosis with the summary performance score and its individual components. Models were adjusted for demographics, lifestyle factors, comorbidities, lipids, and kidney function. In adjusted models, among participants with a normal-range ABI (1.00-1.30), the highest tertile of superficial intima media thickness was associated with lower odds of a perfect summary performance score of 12 (odds ratio=0.56 [0.36, 0.87], P=0.009), and lower odds of a 4-m walk score of 4 (0.34 [0.16, 0.73], P=0.006) and chair rise score of 4 (0.56 [0.34, 0.94], P=0.03). Plaque presence (0.53 [0.29, 0.99], P=0.04) and greater total plaque burden (0.61 [0.43, 0.87], P=0.006) were associated with worse 4-m walk performance in the normal-range ABI group. Higher superficial intima media thickness was associated with lower summary performance score in all individuals (P=0.02).ConclusionsFindings suggest that use of femoral artery atherosclerosis measures may be effective in individuals with a normal-range ABI, especially, for example, those with diabetes mellitus or a family history of peripheral artery disease, when detection can lead to earlier intervention to prevent functional declines and improve quality of life
Heterotaxy syndrome : this is the left, right?
Heterotaxy syndrome is a rare and complex disorder of the chest and abdominal organ
arrangements, and presents a diagnostic challenge to the radiologist. This article describes
the morphological characteristics of heterotaxy and situs abnormalities, in particular left and
right atrial isomerism, and suggests an approach in evaluating the spectrum of abnormalities
associated with heterotaxy syndromes, using appropriate imaging modalities.This article was adapted from an electronic poster entitled âThis is the left, right?â presented at the European Congress of Radiology in Vienna, Austria, in 2013.http://www.sajr.org.zaam201
Anomalous origin of the left pulmonary artery from the ascending aorta in two children with pulmonary atresia, sub-aortic ventricular septal defect and right-sided major aorto-pulmonary collateral arteries
We report two rare cases of an anomalous origin of the left
pulmonary artery (AOLPA) from the ascending aorta, associated
with pulmonary atresia, a ventricular septal defect
and a left aortic arch. The cases are unusual because AOLPA
is more commonly associated with a right aortic arch and
it is more usual for the right pulmonary artery to originate
anomalously from the ascending aorta. The pulmonary
blood supply to the right lung in both patients was absent
and provided instead by major aorto-pulmonary collateral
arteries which were stenosed at multiple levels. The AOLPA
in both patients originated from the postero-lateral aspect of
the ascending aorta just distal to the sino-tubular junction.
Only one patient showed the more common association of
an unusual aortic arch branching pattern in the form of an
anomalous right subclavian artery.
Neither patient was in heart failure and the chest X-ray
in both revealed differential pulmonary perfusion with
prominent vascularity of the left lung. Cardiac catheterisation
showed systemic pressures within the anomalous left
pulmonary artery. Karyotyping revealed normal chromosomes,
and fluorescent in-situ hybridisation done in one
patient was negative for chromosome 22q11.2 microdeletion.
Both patients have been managed conservatively
How should we discuss genetic testing with women newly diagnosed with breast cancer? Design and implementation of a randomized controlled trial of two models of delivering education about treatment-focused genetic testing to younger women newly diagnosed with breast cancer
BACKGROUND: Germline BRCA1 and BRCA2 mutation testing offered shortly after a breast cancer diagnosis to inform women's treatment choices - treatment-focused genetic testing 'TFGT' - has entered clinical practice in specialist centers and is likely to be soon commonplace in acute breast cancer management, especially for younger women. Yet the optimal way to deliver information about TFGT to younger women newly diagnosed with breast cancer is not known, particularly for those who were not suspected of having a hereditary breast cancer syndrome prior to their cancer diagnosis. Also, little is known about the behavioral and psychosocial impact or cost effectiveness of educating patients about TFGT. This trial aims to examine the impact and efficiency of two models of educating younger women newly diagnosed with breast cancer about genetic testing in order to provide evidence for a safe and effective future clinical pathway for this service. DESIGN/METHODS: In this non-inferiority randomized controlled trial, 140 women newly diagnosed with breast cancer (aged less than 50âyears) are being recruited from nine cancer centers in Australia. Eligible women with either a significant family history of breast and/or ovarian cancer or with other high risk features suggestive of a mutation detection rate ofâ>â10% are invited by their surgeon prior to mastectomy or radiotherapy. After completing the first questionnaire, participants are randomized to receive either: (a) an educational pamphlet about genetic testing (intervention) or (b) a genetic counseling appointment at a family cancer center (standard care). Each participant is offered genetic testing for germline BRCA mutations. Decision-related and psychosocial outcomes are assessed over 12âmonths and include decisional conflict (primary outcome);uptake of bilateral mastectomy and/or risk-reducing salpingo-oophorectomy; cancer-specific- and general distress; family involvement in decision making; and decision regret. A process-oriented retrospective online survey will examine health professionals' attitudes toward TFGT; a health economic analysis will determine the cost effectiveness of the intervention. DISCUSSION: This trial will provide crucial information about the impact, efficiency and cost effectiveness of an educational pamphlet designed to inform younger women newly diagnosed with breast cancer about genetic testing. Issues regarding implementation of the trial are discussed
Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy
Regulators of skeletal muscle mass are of interest, given the morbidity and mortality of muscle atrophy and myopathy. Four-and-a-half LIM protein 1 (FHL1) is mutated in several human myopathies, including reducing-body myopathy (RBM). The normal function of FHL1 in muscle and how it causes myopathy remains unknown. We find that FHL1 transgenic expression in mouse skeletal muscle promotes hypertrophy and an oxidative fiber-type switch, leading to increased whole-body strength and fatigue resistance. Additionally, FHL1 overexpression enhances myoblast fusion, resulting in hypertrophic myotubes in C2C12 cells, (a phenotype rescued by calcineurin inhibition). In FHL1-RBM C2C12 cells, there are no hypertrophic myotubes. FHL1 binds with the calcineurin-regulated transcription factor NFATc1 (nuclear factor of activated T cells, cytoplasmic, calcineurin-dependent 1), enhancing NFATc1 transcriptional activity. Mutant RBM-FHL1 forms aggregate bodies in C2C12 cells, sequestering NFATc1 and resulting in reduced NFAT nuclear translocation and transcriptional activity. NFATc1 also colocalizes with mutant FHL1 to reducing bodies in RBM-afflicted skeletal muscle. Therefore, via NFATc1 signaling regulation, FHL1 appears to modulate muscle mass and strength enhancement
One Stomatal Model to Rule Them All?:Toward Improved Representation of Carbon and Water Exchange in Global Models
Stomatal conductance schemes that optimize with respect to photosynthetic and hydraulic functions have been proposed to address biases in land-surface model (LSM) simulations during drought. However, systematic evaluations of both optimality-based and alternative empirical formulations for coupling carbon and water fluxes are lacking. Here, we embed 12 empirical and optimization approaches within a LSM framework. We use theoretical model experiments to explore parameter identifiability and understand how model behaviors differ in response to abiotic changes. We also evaluate the models against leaf-level observations of gas-exchange and hydraulic variables, from xeric to wet forest/woody species spanning a mean annual precipitation range of 361â3,286Â mm yrâ1. We find that models differ in how easily parameterized they are, due to: (a) poorly constrained optimality criteria (i.e., resulting in multiple solutions), (b) low influence parameters, (c) sensitivities to environmental drivers. In both the idealized experiments and compared to observations, sensitivities to variability in environmental drivers do not agree among models. Marked differences arise in sensitivities to soil moisture (soil water potential) and vapor pressure deficit. For example, stomatal closure rates at high vapor pressure deficit range between â45% and +70% of those observed. Although over half the new generation of stomatal schemes perform to a similar standard compared to observations of leaf-gas exchange, two models do so through large biases in simulated leaf water potential (up to 11Â MPa). Our results provide guidance for LSM development, by highlighting key areas in need for additional experimentation and theory, and by constraining currently viable stomatal hypotheses
Integration, coordination and multidisciplinary approaches in primary care: a systematic investigation of the literature
Australia's population is ageing and there is an increasing burden of chronic disease putting pressure on the health system. These challenges have raised interest and awareness of primary health care models of care, like the use of integrated, co-ordinated multidisciplinary team approaches. This review looked at the existence and effectiveness of these models in primary health care settings.The research reported in this paper is a project of the Australian Primary Health Care Research Institute, which is supported by a grant from the Australian Government Department of Health and Ageing under the Primary Health Care Research, Evaluation and Development Strategy
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