Psychosocial adjustment, experiences and views of fathers of sons with Duchenne Muscular Dystrophy

Background: Although Duchenne Muscular Dystrophy (DMD) is acknowledged to have an impact on families as a whole, few studies have investigated psychosocial aspects. Investigation of fathers in paediatric psychology literature is also neglected, and available DMD studies focus on maternal adjustment. This study addresses calls for both, research within the area of DMD and inclusion of fathers. Aims: The overall aim was to investigate psychosocial adjustment, and experiences, of fathers of sons with DMD by studying associations between paternal adjustment and: •boys’ functioning (physical and psychological) •perceived paternal involvement in condition management •perception of support •fathers’ experiences of parenting a son with DMD. Methods: A mixed methods approach, incorporating questionnaires evaluating level of boys’ functional ability (Functional Disability Inventory) and psychiatric adjustment (Strengths and Difficulties Questionnaire); paternal involvement in condition management (Dads Active Disease Support Scale); paternal ratings of satisfaction, and paternal adjustment (General Health Questionnaire), was used. In-depth interviews were also undertaken, and written accounts of experiences and views recorded. Results: 50 fathers completed questionnaires and 48 provided written accounts, with a cohort of 15 participating in interviews. Paternal adjustment was comparable to that of mothers, as noted in previous studies, with 38% above cut off for risk of psychological problems. Predictors of paternal adjustment were boys’ psychosocial adjustment, perceived amount of involvement in condition management and perceived support from friends. Themes emerging from the qualitative strand were 1) loss and acceptance; 2) support versus isolation; 3) the fight for resources and 4) race against time. Conclusion: Findings emphasise the need for bio-psychosocial interventions, acknowledging fathers’ needs, role, and involvement in their child’s condition. Alongside consideration of the family, the psychosocial impact for fathers should be acknowledged as being equally important to dealing with physical issues surrounding DMD. Professional awareness is needed of the emotional implications, and issues fathers face.EThOS - Electronic Theses Online ServiceGBUnited Kingdo

Listening to Fathers of Sons with Duchenne Muscular Dystrophy.

Duchenne Muscular Dystrophy (DMD) affects the entire family, however, most studies concern maternaladjustment with fathers’ adjustment largely overlooked. To investigate experiences of fathersof sons with Duchenne Muscular Dystrophy (DMD) interviews were held with 15 fathers of a son withDMD, from across the UK. 55 fathers from an associated study also provided written accounts.Grounded theory methodology was used to evaluate the data. Four key themes emerged: 1) loss andacceptance; 2) support versus isolation; 3) fight for resources and 4) race against time. Fathers described the impact of emotional/behavioural factors, which were not routinely addressed by professionals.Findings emphasise importance of person-centred care, indicating how needs could be met,from fathers’ perspectives

Editorial Perspective: Speaking up for developmental language disorder - the top 10 priorities for research

Developmental language disorder (DLD) is one of the most common neurodevelopmental conditions, yet is chronically underserved, with far fewer children receiving clinical services than expected from prevalence estimates, and very little research attention relative to other neurodevelopmental conditions of similar prevalence and severity. This editorial describes a research priority-setting exercise undertaken by the Royal College of Speech and Language Therapists, which aims to redress this imbalance. From consultations with researchers, practitioners and individuals with lived experience, 10 research priorities emerge. Our goal is to share these priorities with the wider research community, to raise awareness and encourage research collaboration to improve outcomes for young people with DLD

Interactions between Spider Silk and Cells – NIH/3T3 Fibroblasts Seeded on Miniature Weaving Frames

Native spider silk does not require any modification to its application as a biomaterial that can rival any artificial material in terms of cell growth promoting properties. We could show adhesion mechanics on intracellular level. Additionally, proliferation kinetics were higher than in enzymatically digested controls, indicating that spider silk does not require modification. Recent findings concerning reduction of cell proliferation after exposure could not be met. As biotechnological production of the hierarchical composition of native spider silk fibres is still a challenge, our study has a pioneer role in researching cellular mechanics on native spider silk fibres

Artificial Skin – Culturing of Different Skin Cell Lines for Generating an Artificial Skin Substitute on Cross-Weaved Spider Silk Fibres

Background: In the field of Plastic Reconstructive Surgery the development of new innovative matrices for skin repair is in urgent need. The ideal biomaterial should promote attachment, proliferation and growth of cells. Additionally, it should degrade in an appropriate time period without releasing harmful substances, but not exert a pathological immune response. Spider dragline silk from Nephila spp meets these demands to a large extent. Methodology/Principal Findings: Native spider dragline silk, harvested directly out of Nephila spp spiders, was woven on steel frames. Constructs were sterilized and seeded with fibroblasts. After two weeks of cultivating single fibroblasts, keratinocytes were added to generate a bilayered skin model, consisting of dermis and epidermis equivalents. For the next three weeks, constructs in co-culture were lifted on an originally designed setup for air/liquid interface cultivation. After the culturing period, constructs were embedded in paraffin with an especially developed program for spidersilk to avoid supercontraction. Paraffin cross-sections were stained in Haematoxylin & Eosin (H&E) for microscopic analyses. Conclusion/Significance: Native spider dragline silk woven on steel frames provides a suitable matrix for 3 dimensional skin cell culturing. Both fibroblasts and keratinocytes cell lines adhere to the spider silk fibres and proliferate. Guided by the spider silk fibres, they sprout into the meshes and reach confluence in at most one week. A well-balanced, bilayered cocultivation in two continuously separated strata can be achieved by serum reduction, changing the medium conditions and the cultivation period at the air/liquid interphase. Therefore spider silk appears to be a promising biomaterial for the enhancement of skin regeneration

Diagnosis and management of Cornelia de Lange syndrome:first international consensus statement

Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning

Functional microstructure of CaV-mediated calcium signaling in the axon initial segment

The axon initial segment (AIS) is a specialized neuronal compartment in which synaptic input is converted into action potential (AP) output. This process is supported by a diverse complement of sodium, potassium, and calcium channels (CaV). Different classes of sodium and potassium channels are scaffolded at specific sites within the AIS, conferring unique functions, but how calcium channels are functionally distributed within the AIS is unclear. Here, we use conventional two-photon laser scanning and diffraction-limited, high-speed spot two-photon imaging to resolve AP-evoked calcium dynamics in the AIS with high spatiotemporal resolution. In mouse layer 5 prefrontal pyramidal neurons, calcium influx was mediated by a mix of CaV2 and CaV3 channels that differentially localized to discrete regions. CaV3 functionally localized to produce nanodomain hotspots of calcium influx that coupled to ryanodine-sensitive stores, whereas CaV2 localized to non-hotspot regions. Thus, different pools of CaVs appear to play distinct roles in AIS function.SIGNIFICANCE STATEMENT The axon initial segment (AIS) is the site where synaptic input is transformed into action potential (AP) output. It achieves this function through a diverse complement of sodium, potassium, and calcium channels (CaV). While the localization and function of sodium channels and potassium channels at the AIS is well described, less is known about the functional distribution of CaVs. We used high-speed two-photon imaging to understand activity-dependent calcium dynamics in the AIS of mouse neocortical pyramidal neurons. Surprisingly, we found that calcium influx occurred in two distinct domains: CaV3 generates hotspot regions of calcium influx coupled to calcium stores, whereas CaV2 channels underlie diffuse calcium influx between hotspots. Therefore, different CaV classes localize to distinct AIS subdomains, possibly regulating distinct cellular processes

Reconstitution of anaphase DNA bridge recognition and disjunction

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