An adapted walking intervention for a child with Pitt Hopkins syndrome*

Purpose: To investigate the effects of a community-based adapted walking intervention on a child with Pitt Hopkins syndrome (PTHS).

Methods: A four-year old boy with PTHS participated in a 12-week intervention comprising five one-hour long walking sessions per week at a local daycare. Walking sessions used the Upsee mobility device (Firefly by Leckey Ltd., Ireland). Outcome measures included Goal Attainment Scaling and the Mobility Ability Participation Assessment.

Results: Parental and caregiver goals for social interaction, physical activity and physical health surpassed expectations by post-testing. Gains were not sustained at three months follow-up. The participant’s ability and mobility may have increased following the intervention.

Conclusions: Participants with PTHS may benefit from regular physical activity and early intervention. The Upsee mobility device is a feasible and fun way to promote inclusive community-based physical activity and social engagement in a young child with PTHS. Further research into the health benefits of physical activity and the Upsee for children with PTHS may be warranted.

• Implications for Rehabilitation

• Physical activity may be beneficial for a child with Pitt Hopkins syndrome, a rare genetic disorder.

• New design, implementation of mobility intervention for a child with neurodevelopmental disabilities.

• The Upsee mobility device may offer physical benefits for a child with a neurodevelopmental disability.

• The Upsee mobility device may offer social benefits for a child with a neurodevelopmental disability.

     

Correction: Synthetic routes for a variety of halogenated (chiral) acetic acids from diethyl malonate

Correction for ‘Synthetic routes for a variety of halogenated (chiral) acetic acids from diethyl malonate’ by Manuel R. Mazenauer et al., RSC Adv., 2017, 7, 55434–55440.

An incorrect email address was provided for affiliation a, the correct version, along with capitalisation of Zürich in affiliation b, is shown below.The Royal Society of Chemistry apologises for these errors and any consequent inconvenience to authors and readers.     

Dynamic changes in injured myocardium,very early after acute myocardial infarction,quantified using T1 mapping cardiovascular magnetic resonance

Background

It has recently been suggested that myocardial oedema follows a bimodal pattern early post ST-segment elevation myocardial infarction (STEMI). Yet, water content, quantified using tissue desiccation, did not return to normal values unlike oedema quantified by cardiovascular magnetic resonance (CMR) imaging. We studied the temporal changes in the extent and intensity of injured myocardium using T1-mapping technique within the first week after STEMI.

Methods

A first group (n?=?31) underwent 3 acute 3?T CMR scans (time-point (TP) <?3?h, 24?h and 6?days), including cine, native shortened modified look-locker inversion recovery T1 mapping, T2* mapping and late gadolinium enhancement (LGE). A second group (n?=?17) had a single scan at 24?h with an additional T2-weighted sequence to assess the difference in the extent of area-at-risk (AAR) compared to T1-mapping.

Results

The mean T1 relaxation time value within the AAR of the first group was reduced after 24?h (P?<?0.001 for TP1 vs.TP2) and subsequently increased at 6?days (P?=?0.041 for TP2 vs.TP3). However, the extent of AAR quantified using T1-mapping did not follow the same course, and no change was detected between TP1&TP2 (P?=?1.0) but was between TP2 &TP3 (P?=?0.019). In the second group, the extent of AAR was significantly larger on T1-mapping compared to T2-weighted (42?±?15% vs. 39?±?15%, P?=?0.025). No change in LGE was detected while microvascular obstruction and intra-myocardial haemorrhage peaked at different time points within the first week of reperfusion.

Conclusion

The intensity of oedema post-STEMI followed a bimodal pattern; while the extent of AAR did not track the same course. This discrepancy has implications for use of CMR in this context and may explain the previously reported disagreement between oedema quantified by imaging and tissue desiccation.

     

The interplay between metabolic alterations,diastolic strain rate and exercise capacity in mild heart failure with preserved ejection fraction: a cardiovascular magnetic resonance study

Background

Heart failure (HF) is characterized by altered myocardial substrate metabolism which can lead to myocardial triglyceride accumulation (steatosis) and lipotoxicity. However its role in mild HF with preserved ejection fraction (HFpEF) is uncertain. We measured myocardial triglyceride content (MTG) in HFpEF and assessed its relationships with diastolic function and exercise capacity.

Methods

Twenty seven HFpEF (clinical features of HF, left ventricular EF >50%, evidence of mild diastolic dysfunction and evidence of exercise limitation as assessed by cardiopulmonary exercise test) and 14 controls underwent ¹H-cardiovascular magnetic resonance spectroscopy (¹H-CMRS) to measure MTG (lipid/water, %), ³¹P-CMRS to measure myocardial energetics (phosphocreatine-to-adenosine triphosphate - PCr/ATP) and feature-tracking cardiovascular magnetic resonance (CMR) imaging for diastolic strain rate.

Results

When compared to controls, HFpEF had 2.3 fold higher in MTG (1.45?±?0.25% vs. 0.64?±?0.16%, p?=?0.009) and reduced PCr/ATP (1.60?±?0.09 vs. 2.00?±?0.10, p?=?0.005). HFpEF had significantly reduced diastolic strain rate and maximal oxygen consumption (VO₂ max), which both correlated significantly with elevated MTG and reduced PCr/ATP. On multivariate analyses, MTG was independently associated with diastolic strain rate while diastolic strain rate was independently associated with VO₂ max.

Conclusions

Myocardial steatosis is pronounced in mild HFpEF, and is independently associated with impaired diastolic strain rate which is itself related to exercise capacity. Steatosis may adversely affect exercise capacity by indirect effect occurring via impairment in diastolic function. As such, myocardial triglyceride may become a potential therapeutic target to treat the increasing number of patients with HFpEF.

     

A Path Analysis of Latino Parental,Teenager and Cultural Variables in Teenagers' Sexual Attitudes,Norms, Self-Efficacy,and Sexual Intentions

OBJECTIVE:

to test a theoretical model based on the Parent-Based Expansion of the Theory of Planned Behavior examining relation between selected parental, teenager and cultural variables and Latino teenagers'' intentions to engage in sexual behavior.

METHOD:

a cross-sectional correlational design based on a secondary data analysis of 130 Latino parent and teenager dyads.

RESULTS:

regression and path analysis procedures were used to test seven hypotheses and the results demonstrated partial support for the model. Parent familism and knowledge about sex were significantly associated with parents'' attitudes toward sexual communication with their teenagers. Parent Latino acculturation was negatively associated with parents'' self-efficacy toward sexual communication with their teenagers and positevely associated with parents'' subjective norms toward sexual communication with their teenagers. Teenager knowledge about sex was significantly associated with higher levels of teenagers'' attitudes and subjective norms about sexual communication with parents. Only the predictor of teenagers'' attitudes toward having sex in the next 3 months was significantly associated with teenagers'' intentions to have sex in the next 3 months.

CONCLUSION:

the results of this study provide important information to guide future research that can inform development of interventions to prevent risky teenager sexual behavior among Latinos.     

Thyroid Status and Death Risk in US Veterans With Chronic Kidney Disease

Objective

Given that patients with non–dialysis-dependent chronic kidney disease (NDD-CKD) have a disproportionately higher prevalence of hypothyroidism compared with their non-CKD counterparts, we sought to determine the association between thyroid status, defined by serum thyrotropin (TSH) levels, and mortality among a national cohort of patients with NDD-CKD.

Safety,Pharmacokinetics, and Pharmacodynamics of ME-401, an Oral,Potent, and Selective Inhibitor of Phosphatidylinositol 3-Kinase P110δ, Following Single Ascending Dose Administration to Healthy Volunteers

Purpose

ME-401 is a novel selective inhibitor of phosphatidylinositol 3 kinase p110δ, an enzyme often found overexpressed and overactive in B-cell malignancies. The current study was performed to assess the safety, tolerability, pharmacokinetics, and pharmacodynamics of single ascending oral doses of ME-401 in healthy volunteers.