The subjective well-being of people caring for a family member with a severe disability at home: a review

This review concerns the life quality of people caring for a relative with a severe disability within their family. It involves the balance between the advantages such care brings to the care recipient and the costs borne by the family. A brief history indicates that the forces that encourage family care are minimally concerned with family welfare. Moreover, an analysis of both qualitative and quantitative data indicates that primary caregivers are at considerable risk of high stress, clinical depression, and abnormally low subjective quality of life. It is concluded that increased public expenditure directed to the care of people with severe disability is urgently required.

Deformation behavior of nanostructured aluminum alloy processed by severe plastic deformation

Microstructure and deformation behavior of the commercial aluminum-based Al7.5%Zn–2.7%Mg–2.3%Cu–0.15%Zr alloy subjected to high pressure torsion (HPT) were studied in the present work. A small grain size less than 100 nm, high level of internal stresses and presence of second phase nanoparticles were revealed by transmission electron microscopy (TEM) and X-ray diffraction (XRD). The nanostructured alloy processed by HPT exhibits tensile strength of 800 MPa and ductility of 20% at optimal temperature-strain rate conditions. Unusual influence of a short pre-annealing on tensile strength and ductility of as-processed alloy is discussed.

Functional interaction between mutations in the granulocyte colony-stimulating factor receptor in severe congenital neutropenia

Most severe congenital neutropenia (SCN) cases possess constitutive neutrophil elastase mutations; a smaller cohort has acquired mutations truncating the granulocyte colony-stimulating factor receptor (G-CSF-R). We have described a case with constitutive extracellular G-CSF-R mutation hyporesponsive to ligand. Here we report two independent acquired G-CSF-R truncation mutations and a novel constitutive neutrophil elastase mutation in this patient. Co-expression of a truncated receptor chain restored STAT5 signalling responses of the extracellular G-CSF-R mutant, while constitutively-active STAT5 enhanced its proliferative capacity. These data add to our knowledge of SCN and further highlight the importance of STAT5 in mediating proliferative responses to G-CSF.

The SARS (Severe Acute Respiratory Syndrome) pandemic in Hong Kong : effects on the subjective wellbeing of elderly and younger people

Objectives: This study examined the impact of the Severe Acute Respiratory Syndrome (SARS) outbreak in Hong Kong in 2003, on the subjective wellbeing (SWB) of elderly people and a younger comparative sample. The Personal Wellbeing Index (PWI), a contemporary instrument employed to measure SWB, was also examined for its psychometric performance to substantiate its use.

Method: A total of 302 older adults (age 65 + years) and 158 younger adults (age 35-46 years) were recruited from different districts. Data were collected by individual face-to-face interviews.

Result: While elderly people living in severely infected districts showed significantly lower levels of SWB, these levels and those of the younger sample were found to remain within the normative range. A major mitigating factor was an increased sense of community-connectedness. Other characteristics linked to low wellbeing levels included chronic illness, female gender, low education and unemployment. The living districts, characterized by varying extents of infection, had stronger associations with SWB than participants' age. The PWI demonstrated good psychometric performance and also more robustness with elderly people, including its sensitivity to the sense of population threat.

Conclusion: Psychological resilience was identified among both the elderly and younger age-groups in Hong Kong during the SARS pandemic. The PWI is verified as a suitable instrument for SWB measurements.

Physical activity in the life of a woman with severe cerebal palsy : showing competence and being socially connected

We used a life-history approach to investigate the meanings and experiences of physical activity in the life of a 25-year-old woman with severe cerebral palsy (Amy). Amy and her mother were interviewed about Amy's life and her involvement in physical activity. The conversation was audio-recorded and transcribed verbatim. We interpreted Amy's story using psychodynamic theory. Although Amy enjoyed learning to walk, she developed a sense of inferiority on entering the school environment because her skills did not compare favourably with those of her classmates without disabilities. Despite these negative experiences, Amy became more physically active as an adult than she had been as a child and as an adolescent, with the intention of delaying further functional decline, to stay socially connected to the people around her and to gain self-esteem through displaying competence at physical tasks. For Amy, engaging in physical activity was intimately tied to psychosocial growth, especially as a young adult. Further research should be conducted to investigate whether this relationship between physical activity and psychosocial growth is present in the lives of other people with disabilities.

Relevance of health literacy models for people with severe mental illness

People with severe mental illness experience elevated levels of impairment, morbidity and health-risk behaviours compared with the general population. Despite this, it is consistently reported that they do not visit health professionals, including preventative health professionals, as regularly as the general population. Their poor health suggests that current health promotion efforts have been largely ineffective in addressing their specific needs. Barriers that might explain this include lack of motivation, expense and lack of access. Health literacy is also a potentially important factor. As a part of a programme of work to develop appropriate and effective health promotion for this group, we have explored existing health-literacy models and their relevance to marginalized populations, in particular, people experiencing severe mental illness. A comprehensive search of the literature was undertaken. Models of health literacy identified were analyzed to determine the source population, underpinning theory/frameworks, supporting research evidence and to consider their potential generalisability. This paper presents an analysis of existing health-literacy models in the context of severe mental illness. We propose that because existing models of health literacy were developed through consultation with people experiencing challenges to specific health and social issues, for example, cancer, low income and limited education, this raises questions as to the applicability of these models to people experiencing severe and ongoing mental illness. Whilst such individuals were not actively excluded in the development of the existing models, we propose the development of an alternative model which considers this population's needs and limitations in accessing effective health-promotion campaigns/programs.

Anti-tumour necrosis factor-α therapy for severe enteropathy in patients with common variable immunodeficiency (CVID)

We present three common variable immunodeficiency (CVID) patients with
severe inflammatory bowel disease of unknown aetiology, resistant to steroid
treatment, treated with infliximab.After exclusion of any infection, infliximab
was given at a dose of 5 mg/kg every 4 weeks for a 3 month induction followed
by every 4–8 weeks depending on clinical response. Two of these patients had
predominantly small bowel disease; they both showed clinical response to
infliximab with weight gain and improvement of quality of life scores. The
third patient had large bowel involvement with profuse watery diarrhea; this
patient improved dramatically within 48 hours of having infliximab
treatment. All three patients have been maintained on infliximab treatment
for between 5 and 53 months (mean 37 months) with no evidence of increased
susceptibility to infections in the patients with small bowel disease, although
the third patient developed two urinary tract infections and a herpes zoster
infection following therapy. This is the first small case series to show that
infliximab is a useful addition to current therapy in this rare group of patients
with potentially life threatening enteritis.

Underestimated and severe : small mammal decline from the forests of south-eastern Australia since European settlement, as revealed by a top-order predator

In Australia, numerous small mammal species have suffered extinction or severe declines in distribution and abundance following European settlement. The extent of these declines from forested areas of south-eastern Australia, however, remains poorly understood. In this paper we use sub-fossil deposits of the sooty owl (Tyto tenebricosa tenebricosa) as a tool for understanding the diversity of the small mammal palaeocommunity. These results are compared to the contemporary sooty owl diet from the same geographical region to investigate the degree of small mammal decline following European settlement. Of 28 mammal species detected in sub-fossil deposits and considered prey items of the sooty owl at the time of European settlement, only 10 species were detected in the contemporary sooty owl diet. Numerous small mammal species have not only recently suffered severe declines in distribution and abundance but have also recently undergone niche contraction, as they occupied a greater diversity of regions and habitats at the time of European settlement. For some species our understanding of their true ecological niche and ecological potential is therefore limited. The species that underwent the greatest declines occupied open habitat types or were terrestrial. The severity of decline is also likely to have resulted in severe disruption of ecosystem functions, with wide scale ecosystem consequences. There is an urgent need to improve small mammal conservation, to maintain crucial ecosystem functions performed by small mammals. It is recommended that broad-scale exotic predator control programs are conducted which may also provide suitable conditions for the re-introduction of locally extinct species.

Nanograin metals and metallic multilayers produced by severe plastic deformation

This research has developed an improved understanding of the structure-property relationships, fabrication technology and deformation mechanism of light bulk ultrafine grained materials and metallic multilayered structure.

Mutation of the LUNATIC FRINGE gene in humans Causes spondylocostal dysostosis with a severe vertebral phenotype

The spondylocostal dysostoses (SCDs) are a heterogeneous group of vertebral malsegmentation disorders that arise during embryonic development by a disruption of somitogenesis. Previously, we had identified two genes that cause a subset of autosomal recessive forms of this disease: DLL3 (SCD1) and MESP2 (SCD2). These genes are important components of the Notch signaling pathway, which has multiple roles in development and disease. Here, we have used a candidate-gene approach to identify a mutation in a third Notch pathway gene, LUNATIC FRINGE (LFNG), in a family with autosomal recessive SCD. LFNG encodes a glycosyltransferase that modifies the Notch family of cell-surface receptors, a key step in the regulation of this signaling pathway. A missense mutation was identified in a highly conserved phenylalanine close to the active site of the enzyme. Functional analysis revealed that the mutant LFNG was not localized to the correct compartment of the cell, was unable to modulate Notch signaling in a cell-based assay, and was enzymatically inactive. This represents the first known mutation in the human LFNG gene and reinforces the hypothesis that proper regulation of the Notch signaling pathway is an absolute requirement for the correct patterning of the axial skeleton.

Multimodal nanostructured titanium using severe plastic deformation

In the present study, multimodal nanostructured titanium was engineered using severe plastic deformation. The multimodal structured titanium exhibits an ultrahigh strength of over 940 MPa and a large failure elongation of 24%. The ultrahigh strength is mainly derived from the nanostructured structures; whilst the exceptional ductility originates from the large fraction of high angle grain boundaries, micro-scale structures, and the non-equilibrium grain boundary configuration. It is worth noting that apart from dislocation slip processes, the formation of deformation twins reduced the effective slip distance and increased the strain hardening capacity via the Hall-Petch mechanism, leading to high ductility of the multimodal structured titanium.

HSP72 preserves muscle function and slows progression of severe muscular dystrophy

Duchenne muscular dystrophy (DMD) is a severe and progressive muscle wasting disorder caused by mutations in the dystrophin gene that result in the absence of the membrane-stabilizing protein dystrophin¹, ², ³. Dystrophin-deficient muscle fibres are fragile and susceptible to an influx of Ca²⁺, which activates inflammatory and muscle degenerative pathways⁴, ⁵, ⁶. At present there is no cure for DMD, and existing therapies are ineffective. Here we show that increasing the expression of intramuscular heat shock protein 72 (Hsp72) preserves muscle strength and ameliorates the dystrophic pathology in two mouse models of muscular dystrophy. Treatment with BGP-15 (a pharmacological inducer of Hsp72 currently in clinical trials for diabetes) improved muscle architecture, strength and contractile function in severely affected diaphragm muscles in mdx dystrophic mice. In dko mice, a phenocopy of DMD that results in severe spinal curvature (kyphosis), muscle weakness and premature death⁷, ⁸, BGP-15 decreased kyphosis, improved the dystrophic pathophysiology in limb and diaphragm muscles and extended lifespan. We found that the sarcoplasmic/endoplasmic reticulum Ca²⁺-ATPase (SERCA, the main protein responsible for the removal of intracellular Ca²⁺) is dysfunctional in severely affected muscles of mdx and dko mice, and that Hsp72 interacts with SERCA to preserve its function under conditions of stress, ultimately contributing to the decreased muscle degeneration seen with Hsp72 upregulation. Treatment with BGP-15 similarly increased SERCA activity in dystrophic skeletal muscles. Our results provide evidence that increasing the expression of Hsp72 in muscle (through the administration of BGP-15) has significant therapeutic potential for DMD and related conditions, either as a self-contained therapy or as an adjuvant with other potential treatments, including gene, cell and pharmacological therapies.