To send content items to your account,
please confirm that you agree to abide by our usage policies.
If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account.
Find out more about sending content to .
To send content items to your Kindle, first ensure email@example.com
is added to your Approved Personal Document E-mail List under your Personal Document Settings
on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part
of your Kindle email address below.
Find out more about sending to your Kindle.
Note you can select to send to either the @free.kindle.com or @kindle.com variations.
‘@free.kindle.com’ emails are free but can only be sent to your device when it is connected to wi-fi.
‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.
Cardiac rhabdomyomas represent the most common primary paediatric cardiac tumour and typically regresses over time in the majority of patients. Among those who are symptomatic, surgical resection or catheterisation procedures have traditionally proven effective. More recently, those invasive or challenging tumours have been successfully treated with mammalian target of rapamycin inhibitors, typically everolimus and sirolimus. This review outlines the current medical literature of the state-of-the-art medical treatment of these tumours. We specifically focus on dosing regimens, duration of therapy, and side-effect profiles of mammalian target of rapamycin inhibitors among this population. Although the majority of cases responded to mammalian target of rapamycin inhibition, standardised guidelines for dosing and duration of treatment remain to be defined.
Online learning has become an increasingly expected and popular component for education of the modern-day adult learner, including the medical provider. In light of the recent coronavirus pandemic, there has never been more urgency to establish opportunities for supplemental online learning. Heart University aims to be “the go-to online resource” for e-learning in CHD and paediatric-acquired heart disease. It is a carefully curated open access library of paedagogical material for all providers of care to children and adults with CHD or children with acquired heart disease, whether a trainee or a practising provider. In this manuscript, we review the aims, development, current offerings and standing, and future goals of Heart University.
The C677T polymorphism in the folate metabolising enzyme methylenetetrahydrofolate reductase (MTHFR) is associated with hypertension. Riboflavin acts as a cofactor for MTHFR in one-carbon metabolism which generates methyl groups for utilisation in important biological reactions such as DNA methylation. Supplementation with riboflavin has previously been shown to lower blood pressure in individuals with the MTHFR 677TT genotype. The mechanism regulating this gene-nutrient interaction is currently unknown but may involve aberrant DNA methylation which has been implicated hypertension.
The aims of this study were to examine DNA methylation of hypertension-related genes in adults stratified by MTHFR C677T genotype and the effect of riboflavin supplementation on DNA methylation of these genes in individuals with the MTHFR 677TT genotype.
Materials and Methods:
We measured DNA methylation using pyrosequencing in a set of candidate genes associated with hypertension including angiotensin II receptor type 1 (AGTR1), G nucleotide binding protein subunit alpha 12 (GNA12), insulin-like growth factor 2 (IGF2) and nitric oxide synthase 3 (NOS3). Stored peripheral blood leukocyte samples from participants previously screened for the MTHFR C677T genotype who participated in targeted randomised controlled trials (1.6mg/d riboflavin or placebo for 16 weeks) at Ulster University were accessed for this analysis (n = 120).
There were significant differences in baseline average methylation between MTHFR CC and TT genotypes at NOS3 (p = 0.026) and AGTR1 (p = 0.045) loci. Riboflavin supplementation in the TT genotype group resulted in altered average methylation at IGF2 (p = 0.025) and CpG site-specific alterations at the AGTR1 and GNA12 loci.
DNA methylation at genes related to hypertension were significantly different in individuals stratified by MTHFR genotype group. Furthermore, in MTHFR 677TT genotype individuals, there were concurrent alterations in DNA methylation at genes linked to hypertension in response to riboflavin supplementation. This is the largest study to date to demonstrate an interaction between DNA methylation of hypertension-related genes and riboflavin supplementation in adults with the MTHFR 677TT genotype. Further work using a genome-wide approach is required to better understand the role of riboflavin in altering DNA methylation in these genetically at-risk individuals.
To assess the outcomes of congenital tracheal stenosis among children.
Materials and methods:
A retrospective review of all children who underwent surgical repair of congenital tracheal stenosis reviewing charts, operative notes, echocardiograms, CT and MRI data from January 2002 to February 2019.
Twenty-six children underwent surgical treatment for tracheal stenosis. The median age was 3 months (range 0.3–35 months) and the median weight was 4.7 kg (range 2.5–13 kg) at the time of surgical intervention. Stridor was the most common presenting symptom in 17 patients (65% of patients). Twenty-one patients (81%) had concurrent cardiac anomalies, with pulmonary arterial sling being the most common, present in nine patients (34%). Extracorporeal life support was utilised in seven patients (27%) pre-operatively. Laryngeal release was required in 16 patients. In 7 patients an end-to-end anastomosis was performed, in 18 patients slide tracheoplasty, and 1 patient had a double slide tracheoplasty. The median cardiopulmonary bypass time was 106 minutes (range 25–255 minutes). The median cross-clamp time was 30 minutes (range 5–67 minutes). The median post-operative duration of ventilation was 5 days (range 0.5–16 days). The median ICU length of stay was 12.5 days (range 2–60 days). There were three hospital mortalities with 88% survival. One patient only required reintervention with balloon dilation. Twenty-two patients (85%) remained symptom-free on median follow-up at 7.6 years (range 0.2–17 years). Two patients since 2017 had 3D printed tracheas produced from CT imaging to assist surgical planning.
Congenital tracheal stenosis can be managed effectively with excellent outcomes and 3D printed models assist in planning the optimal surgical intervention.
Decades of research have highlighted the significance of parenting in children's development, yet few studies have focused specifically on the development of parental monitoring strategies in diverse families living in at-risk neighborhoods. The current study investigated the development of active (i.e., parental discussions and curfew rules) and passive (i.e., child communication with parents) parental monitoring strategies across different developmental periods (middle childhood and adolescence; Grades 4–5 and 7–11) as well as individual (child, parent), family, and contextual antecedents (measured in kindergarten) of this parenting behavior. Using an ecological approach, this study evaluated longitudinal data from 753 participants in the Fast Track Project, a multisite study directed at the development and prevention of conduct problems in at-risk children. Latent trajectory modeling results identified little to no mean growth in these monitoring strategies over time, suggesting that families living in at-risk environments may engage in consistent levels of monitoring strategies to ensure children's safety and well-being. Findings also identified several kindergarten antecedents of the growth factors of these parental monitoring strategies including (a) early child conduct problems; (b) parental warmth/involvement, satisfaction, and efficacy; and (c) parent–child relationship quality. These predictive effects largely highlighted the important role of early parenting behaviors on later levels of and growth in parental monitoring strategies. These findings have important implications for potential prevention and intervention targets to promote the development of parental monitoring strategies among families living in more at-risk contexts.
Recurrent aortic arch obstruction following the Norwood procedure is recognised as an important complication. Balloon arch angioplasty is associated with a high recoarctation rate.
We sought to evaluate the prevalence and outcome of stent implantation for recoarctation in children following Norwood or Damus–Kaye–Stansel procedure over the past decade at a single national cardiology centre.
Of 114 children who underwent Norwood procedure or Damus–Kaye–Stansel procedure between January 2003 and June 2013, 80 patients survived. Of these 15 children underwent stent implantation for recoarctation. Six of these patients had previous balloon angioplasty. The median age at stent implantation was 4.4 months (range 2–82 months). The median peak aortic arch gradient at catheterisation decreased from 26mmHg (range 10–70mmHg) to 2mmHg (range 0–20mmHg). The median luminal diameter increased from 4.7 mm (range 3.2–7.9 mm) to 8.6 mm (range 6.2–10.9 mm). The median coarctation index increased by 0.49 (range = 0.24–0.64). A Valeo stent was employed in 11 children, a Palmaz Genesis stent in 2 patients, a MultiLink stent in 1 child, and a Jomed covered stent in 1 child. Two factors were associated with the need for stent placement: previous arch angioplasty (p valve < 0.001, χ-square 11.5) and borderline left ventricle (p = 0.04, χ-square = 4.1). Stent migration occurred in one child. There were two deaths related to poor right ventricular systolic function and severe tricuspid regurgitation. Six patients underwent redilation of the stent with no complications.
The prevalence of recurrent aortic arch obstruction following Norwood/Damus–Kaye–Stansel procedure was 18%. Stent implantation is safe and reliably eliminates the aortic obstruction. Redilation can be successfully achieved to accommodate somatic growth or development of stent recoarctation.
We describe the case of a newborn infant with transposition of the great vessels and a retroaortic innominate vein. This is a previously undescribed association. The decision was made to incorporate the retroaortic innominate vein into the Lecompte procedure at the time of surgery to avoid the risk of superior caval vein syndrome.
Refugees report elevated rates of posttraumatic stress disorder (PTSD), but are relatively unlikely to seek help for their symptoms. Mental health stigma is a key barrier to help-seeking amongst refugees. We evaluated the efficacy of an online intervention in reducing self-stigma and increasing help-seeking in refugee men.
Participants were 103 refugee men with PTSD symptoms from Arabic, Farsi or Tamil-speaking backgrounds who were randomly assigned to either receive an 11-module online stigma reduction intervention specifically designed for refugees (‘Tell Your Story’, TYS) or to a wait-list control (WLC) group. Participants completed online assessments of self-stigma for PTSD and help-seeking, and help-seeking intentions and behaviors at baseline, post-intervention, and at a 1 month follow-up.
Intent-to-treat analyses indicated that, compared to the WLC, TYS resulted in significantly smaller increases in self-stigma for seeking help from post-treatment to follow-up (d = 0.42, p = 0.008). Further, participants in the TYS conditions showed greater help-seeking behavior from new sources at follow-up (B = 0.69, 95% CI 0.19–1.18, p = 0.007) than those in the WLC. The WLC showed significantly greater increases in help-seeking intentions from post-intervention to follow-up (d = 0.27, p = 0.027), relative to the TYS group.
This is the first investigation of a mental health stigma reduction program specifically designed for refugees. Findings suggest that evidence-based stigma reduction strategies are beneficial in targeting self-stigma related to help-seeking and increasing help-seeking amongst refugees. These results indicate that online interventions focusing on social contact may be a promising avenue for removing barriers to accessing help for mental health symptoms in traumatized refugees.
To date, Ireland has been a leading light in the provision of youth mental health services. However, cognisant of the efforts of governmental and non-governmental agencies working in youth mental health, there is much to be done. Barriers into care as well as discontinuity of care across the spectrum of services remain key challenges. This editorial provides guidance for the next stage of development in youth mental care and support that will require significant national engagement and resource investment.
Reduced soil fertility and damage from pests and diseases have contributed to a decline in productivity of cocoa (Theobroma cacao L.) smallholdings in Sulawesi, Indonesia over the last decade. In a trial on a marginal, acidic soil in South Sulawesi, young PBC123 cocoa trees were supplied with compost, mineral fertiliser (NPK fertiliser and urea) or dolomite, alone and in combination. After 20 months, the trees supplied with compost were taller, flowered more profusely and had a five-fold higher dry bean yield than other treatments. Treatments had no impact on incidence of cocoa pod borer, Phytophthora pod rot and vascular streak dieback. All of the trees supplied with compost survived, while the control, mineral-fertiliser- and dolomite-treated trees had a mortality rate of 22–45% and symptoms of interveinal necrosis. Leaf concentrations of N, P and K were within the normal range in all treatments. In the control and mineral fertiliser treatments, leaf concentrations of Ca (0.28–0.30%) and Mg (0.11–0.15%) were deficient, but were higher in trees supplied with compost (0.78–1.21% and 0.26–0.29%, respectively). The Mg/K ratio in soil-exchangeable cations and leaves was increased three-fold by the combined compost/dolomite treatment. Supplying mineral fertiliser alone resulted in 3.3 cmol kg−1 exchangeable Al, compared to 2.2 cmol kg−1 in control soils. Since 10 kg tree−1 year−1 compost was supplied, a rate that is not practical on most cocoa smallholder farms, further investigation of cost-effective applications of organic matter in conjunction with appropriate formulations of inorganic fertilisers is recommended.
The unique phenotypic and genetic aspects of obsessive-compulsive (OCD) and attention-deficit/hyperactivity disorder (ADHD) among individuals with Tourette syndrome (TS) are not well characterized. Here, we examine symptom patterns and heritability of OCD and ADHD in TS families.
OCD and ADHD symptom patterns were examined in TS patients and their family members (N = 3494) using exploratory factor analyses (EFA) for OCD and ADHD symptoms separately, followed by latent class analyses (LCA) of the resulting OCD and ADHD factor sum scores jointly; heritability and clinical relevance of the resulting factors and classes were assessed.
EFA yielded a 2-factor model for ADHD and an 8-factor model for OCD. Both ADHD factors (inattentive and hyperactive/impulsive symptoms) were genetically related to TS, ADHD, and OCD. The doubts, contamination, need for sameness, and superstitions factors were genetically related to OCD, but not ADHD or TS; symmetry/exactness and fear-of-harm were associated with TS and OCD while hoarding was associated with ADHD and OCD. In contrast, aggressive urges were genetically associated with TS, OCD, and ADHD. LCA revealed a three-class solution: few OCD/ADHD symptoms (LC1), OCD & ADHD symptoms (LC2), and symmetry/exactness, hoarding, and ADHD symptoms (LC3). LC2 had the highest psychiatric comorbidity rates (⩾50% for all disorders).
Symmetry/exactness, aggressive urges, fear-of-harm, and hoarding show complex genetic relationships with TS, OCD, and ADHD, and, rather than being specific subtypes of OCD, transcend traditional diagnostic boundaries, perhaps representing an underlying vulnerability (e.g. failure of top-down cognitive control) common to all three disorders.
Mothers with histories of alcohol and drug addiction have shown greater difficulty parenting young children than mothers with no history of substance misuse. This study was the second randomized clinical trial testing the efficacy of Mothering From the Inside Out (MIO), a 12-week mentalization-based individual therapy designed to address psychological deficits commonly associated with chronic substance use that also interfere with the capacity to parent young children. Eighty-seven mothers caring for a child between 11 and 60 months of age were randomly assigned to receive 12 sessions of MIO versus 12 sessions of parent education (PE), a psychoeducation active control comparison. Maternal reflective functioning, representations of caregiving, mother–child interaction quality, and child attachment were evaluated at baseline and posttreatment and 3-month follow-up. Mother–child interaction quality was assessed again at 12-month follow-up. In comparison with PE mothers, MIO mothers demonstrated a higher capacity for reflective functioning and representational coherence at posttreatment and 3-month follow-up. At 12-month follow-up, compared to PE cohorts, MIO mothers demonstrated greater sensitivity, their children showed greater involvement, and MIO dyads showed greater reciprocity. As addiction severity increased, MIO also appeared to serve as a protective factor for maternal reflective functioning, quality of mother–child interactions, and child attachment status. Results demonstrate the promise of mentalization-based interventions provided concomitant with addiction treatment for mothers and their young children.
In recent years, three-dimensional printing has demonstrated reliable reproducibility of several organs including hearts with complex congenital cardiac anomalies. This represents the next step in advanced image processing and can be used to plan surgical repair. In this study, we describe three children with complex univentricular hearts and abnormal systemic or pulmonary venous drainage, in whom three-dimensional printed models based on CT data assisted with preoperative planning. For two children, after group discussion and examination of the models, a decision was made not to proceed with surgery. We extend the current clinical experience with three-dimensional printed modelling and discuss the benefits of such models in the setting of managing complex surgical problems in children with univentricular circulation and abnormal systemic or pulmonary venous drainage.
Objectives: Cognitive-linguistic impairments in Parkinson’s disease (PD) have been well documented; however, few studies have explored the neurophysiological underpinnings of semantic deficits in PD. This study investigated semantic function in PD using event-related potentials. Methods: Eighteen people with PD and 18 healthy controls performed a semantic judgement task on written word pairs that were either congruent or incongruent. Results: The mean amplitude of the N400 for new incongruent word pairs was similar for both groups, however the onset latency was delayed in the PD group. Further analysis of the data revealed that both groups demonstrated attenuation of the N400 for repeated incongruent trials, as well as attenuation of the P600 component for repeated congruent trials. Conclusions: The presence of N400 congruity and N400 repetition effects in the PD group suggests that semantic processing is generally intact, but with a slower time course as evidenced by the delayed N400. Additional research will be required to determine whether N400 and P600 repetition effects are sensitive to further cognitive decline in PD. (JINS, 2017, 23, 78–89)
We describe the case of an 8-week-old infant with late presentation of severe refractory atypical Kawasaki disease. In addition to developing giant coronary arterial aneurysms and coronary thrombosis, she formed extensive bilateral arterial aneurysms throughout her systemic circulation.
Aberrant emotional biases have been reported in bipolar disorder (BD), but results are inconsistent. Despite the clinical relevance of chronic mood variability in BD, there is no previous research investigating how the extent of symptom fluctuations in bipolar disorder might relate to emotional biases. This exploratory study investigated, in a large cohort of bipolar patients, whether instability in weekly mood episode symptoms and other clinical and demographic factors were related to emotional bias as measured in a simple laboratory task.
Participants (N = 271, BDI = 206, BDII = 121) completed an ‘emotional categorization and memory’ task. Weekly self-reported symptoms of depression and mania were collected prospectively. In linear regression analyses, associations between cognitive bias and mood variability were explored together with the influence of demographic and clinical factors, including current medication.
Greater accuracy in the classification of negative words relative to positive words was associated with greater instability in depressive symptoms. Furthermore, greater negative bias in free recall was associated with higher instability in manic symptoms. Participants diagnosed with BDII, compared with BDI, showed overall better word recognition and recall. Current antipsychotic use was associated with reduced instability in manic symptoms but this did not impact on emotional processing performance.
Emotional processing biases in bipolar disorder are related to instability in mood. These findings prompt further investigation into the underpinnings as well as clinical significance of mood instability.
The multi-object spectroscopic facility FOCAP at the Anglo-Australian Telescope has been used to obtain spectra centred at the Ca II IR triplet of 14 stars in the field of the Sextans dwarf spheroidal (dSph) galaxy. This satellite of our own Galaxy was recently discovered by Irwin et al. (1990) from APM measures of UK Schmidt Telescope photographic plates.
The first QSO with a redshift z > 4 was found using a combination of UK Schmidt Telescope (UKST) plates and the APM automatic plate measuring machine (Warren et al. 1987a). By continuing to make use of UKST survey plates plus the APM facility we have added substantially to the number of known QSOs with z > 4. A brief description of the general survey technique is presented together with a preliminary discussion of some of the results obtained so far.