Principle and design of a mobile arm support for people with muscular weakness

This article describes the development of a mobile arm support for people with muscular diseases. The arm support is spring-balanced, with special attention on reduction of operating effort (high balancing quality and low friction), functionality (large range of motion), and aesthetics (inconspicuous design). The spring settings can be adjusted for wearing heavier clothing or picking up an object, a function that can also be used for moving up or down. The device levels itself automatically to compensate for uneven floors, a function that can be overruled to assist forward/backward motion of the arm. Thus, the balancer can compensate for the weight of the arm and be adjusted to generate force to a limited (safe) extent. The principle and design of the mechanism are presented and preliminary field trial results are given. Two users report on 6 months of continuous use of the arm support in their home and social environments.     

Integrative care and bridge building among health care providers in Norway and Denmark

BACKGROUND: Patients in Norway and Demmark with the medical diagnoses of cancer, multiple sclerosis (MS), and HIV/AIDS use complementary and alternative treatment (CAT) in growing numbers, most often in addition to receiving conventional treatment. At the same time, the interest and demand from patients for more holistic-oriented care is strongly increasing. Following this, there is a desire and need for better communication and cooperation among the conventional medical establishment, CAT practitioners, and patients. This development raises new demands on research designs to incorporate complexity and diversity concerning the intervention, effect mechanisms, and outcomes. DISCUSSION: This article outlines different models used to combine conventional, complementary, and alternative treatment (CCAT), describing various degrees of integration among therapies. The authors are closely involved in three current and planned research projects in Norway and Denmark focusing on cancer, MS, and HIV/AIDS. These research projects are briefly introduced as examples of bridge-building efforts dealing with integrative care. Despite explicit political good will in Norway and Denmark, initiatives to enhance integration face challenges connected to lack of knowledge; resistance toward CCAT; lack of time, space, and economic resources; and patients left without any claim on insurance in the case of treatment failure. These challenges are outlined based on the researchers' experience from being involved in the research projects. CONCLUSIONS: To optimize treatment outcomes in the future, it is argued that the need for closer cooperation among conventional and alternative therapists across professional boundaries in an interactive partnership with patients is evident. Researchers have to rethink research design and methods in meeting the new trend toward bridge building based on integrative health care.     

Natural history of seminiferous tubule degeneration in Klinefelter syndrome

Klinefelter syndrome (47,XXY) is characterized by small, firm testis, gynaecomastia, azoospermia and hypergonadotropic hypogonadism. Degeneration of the seminiferous tubules in 47,XXY males is a well-described phenomenon. It begins in the fetus, progresses through infancy and accelerates dramatically at the time of puberty with complete hyalinization of the seminiferous tubules, although a few tubules with spermatogenesis may be present in adult life. Activation of the pituitary-gonadal axis at 3 months of age is seen in Klinefelter boys similar to healthy boys. However, the level of testosterone in Klinefelter boys is significantly lower than in controls. After this 'minipuberty', the hormone levels decline to normal prepubertal levels until puberty. In puberty, an initial rise in testosterone, inhibin B, LH and FSH occurs in Klinefelter boys. However, the rise in testosterone levels off and ends at a low-normal level in young adults. Likewise, serum concentration of inhibin B exhibits a dramatic decline to a low, often undetectable level, concomitantly with a rise in FSH, reflecting the degeneration of the seminiferous tubules. Many hypotheses about the underlying mechanism of the depletion of the germ cells in Klinefelter males have been reported and include insufficient supranumerary X-chromosome inactivation, Leydig cell insufficiency and disturbed regulation of apoptosis of Sertoli and Leydig cells. However, at present, the exact mechanism remains unclear. In this article, we summarize current knowledge on the development of the classical endocrinological and histological features of 47,XXY males from fetus to adulthood and review the literature concerning the degeneration of the seminiferous tubules in this syndrome.     

The advantage of a decreasing right-hand superiority: the influence of laterality on a selected musical skill (sight reading achievement)

In this study, the unrehearsed performance of music, known as 'sight reading', is used as a model to examine the influence of motoric laterality on highly challenging musical performance skills. As expertise research has shown, differences in this skill can be partially explained by factors such as accumulated practise and an early start to training. However, up until now, neurobiological factors that may influence highly demanding instrumental performance have been widely neglected. In an experiment with 52 piano students at a German university music department, we could show that the most challenging musical skill, sight reading (which is characterized by extreme demands on the performer's real time information processing), is positively correlated with decreasing right-hand superiority of performers. Laterality was measured by the differences between left and right-hand performance in a speed tapping task. SR achievement was measured using an accompanying task paradigm. An overall superiority of 22% for non-right-handed pianists was found. This effect is gender-related and stronger in non-right-handed males (r(24) = -0.49, p<0.05) than in non-right-handed females (r(28) = -0.16, p>0.05). We conclude that non-right-handed motoric laterality is associated with neurobiological advantages required for sight reading, an extremely demanding musical subskill.     

No association of leukemia inhibitory factor (LIF) DNA polymorphisms with multiple sclerosis

Neuropoietins such as leukemia inhibitory factor (LIF) have been shown to ameliorate experimental autoimmune encephalomyelitis (EAE) and promote oligodendrocyte survival in vivo. We tested whether two previously described LIF polymorphisms are associated with MS by genotyping these single nucleotide polymorphisms (SNPs) in a group of MS patients (n=110), rheumatoid arthritis (RA) patients (n=120) and healthy controls (HC, n=109). Similar allele and genotype frequencies for both SNPs were found for all study groups. Furthermore, no associations with MS type or HLA-DR2 expression could be found. In summary, no association was found between the studied LIF DNA polymorphisms and the prevalence of MS indicating that these polymorphisms are not involved in determining disease susceptibility.     

Complete remission of coronary vasculitis in Churg–Strauss Syndrome by prednisone and cyclophosphamide

The heart is involved in up to 50% of all patients with Churg–Strauss syndrome, but vasculitis of the coronary arteries has only been rarely documented. We present a young patient with severe coronary aneurysms and stenotic lesions due to a Churg–Strauss vasculitis. Prompt therapy with prednisone and cyclophosphamide resulted in the complete resolution of all lesions.     

Family satisfaction in the intensive care unit: a quantitative and qualitative analysis

Purpose

To assess family satisfaction in the intensive care unit (ICU) and areas for improvement using quantitative and qualitative analyses.

Methods

Prospective cohort study performed in four (mixed surgical, neurological, and cardiological) intensive care units of a university hospital in Germany, using a translated and validated version of the Family Satisfaction in the ICU (FS-ICU) questionnaire, with questions answerable on a rating scale and three open-ended questions about strengths and weaknesses. Quantitative analysis was performed to identify items with low performance and high importance. For qualitative analysis, comments were coded and analyzed to identify important themes. Patient-related data were obtained from an electronic patient data management system.

Results

Participants were 215 family members visiting adult intensive care patients with length of stay over 48 h. Response rate was 28 %. Respondents were highly satisfied; summary scores were 78.3 ± 14.3 [mean ± standard deviation (SD)] on a scale of 0 (poor) to 100 (excellent). Regression analysis failed to identify association with patient- or family-related factors. The following themes for possible improvement emerged from both quantitative and qualitative analyses: patient agitation—consistency, clarity and completeness of information—emotional support—respect and compassion towards families. Families were also dissatisfied with the waiting room, ICU atmosphere, and amenities for visiting relatives.

Conclusions

Families report high satisfaction with intensive care. Nevertheless, there is room for improvement, in particular regarding how ICU staff communicate with families and provide emotional support.     

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin

We report 10 children (7 male, 3 female), 3 homozygous for c.319C>T mutation and 7 heterozygous for c.319C>T on one allele and c.625G>A variant on the other in the short-chain acyl-CoA dehydrogenase (SCAD) gene (ACADS). All were of Ashkenazi Jewish origin in which group we found a c.319C>T heterozygote frequency of 1:15 suggesting the presence of a founder mutation or selective advantage. Phenotype was variable with onset from birth to early childhood. Features included hypotonia (8/10), developmental delay (8/10), myopathy (4/10) with multicore changes in two and lipid storage in one, facial weakness (3/10), lethargy (5/10), feeding difficulties (4/10) and congenital abnormalities (3/7). One female with multiminicore myopathy had progressive external ophthalmoplegia, ptosis and cardiomyopathy with pneumonia and respiratory failure. Two brothers presented with psychosis, pyramidal signs, and multifocal white matter abnormalities on MRI brain suggesting additional genetic factors. Two other infants also had white matter changes. Elevated butyrylcarnitine (4/8), ethylmalonic aciduria (9/9), methylsuccinic aciduria (6/7), decreased butyrate oxidation in lymphoblasts (2/4) and decreased SCAD activity in fibroblasts or muscle (3/3) were shown. Expression studies of c.319C>T in mouse liver mitochondria showed it to be inactivating. c.625G>A is a common variant in ACADS that may confer disease susceptibility. Five healthy parents were heterozygous for c.319C>T and c.625G>A, suggesting reduced penetrance or broad clinical spectrum. We conclude that the c.319C>T mutation can lead to wide clinical and biochemical phenotypic variability, suggesting a complex multifactorial/polygenic condition. This should be screened for in individuals with multicore myopathy, particularly among the Ashkenazim.