New gene discoveries in skeletal diseases with short stature

In the last decade, the widespread use of massively parallel sequencing has considerably boosted the number of novel gene discoveries in monogenic skeletal diseases with short stature. Defects in genes playing a role in the maintenance and function of the growth plate, the site of longitudinal bone growth, are a well-known cause of skeletal diseases with short stature. However, several genes involved in extracellular matrix composition or maintenance as well as genes partaking in various biological processes have also been characterized. This review aims to describe the latest genetic findings in spondyloepiphyseal dysplasias, spondyloepimetaphyseal dysplasias, and some monogenic forms of isolated short stature. Some examples of novel genetic mechanisms leading to skeletal conditions with short stature will be described. Strategies on how to successfully characterize novel skeletal phenotypes with short stature and genetic approaches to detect and validate novel gene-disease correlations will be discussed in detail. In summary, we review the latest gene discoveries underlying skeletal diseases with short stature and emphasize the importance of characterizing novel molecular mechanisms for genetic counseling, for an optimal management of the disease, and for therapeutic innovations.Peer reviewe

Burden of Oral Symptoms and Health-Related Quality of Life in Long-Term Care Settings in Helsinki, Finland

Objectives Poor oral health may complicate eating and deteriorate nutritional status. However, little is known about how the burden of oral symptoms (OS) is associated with the health-related quality of life (HRQoL) of vulnerable older people in institutional settings. This study explores how the burden of certain OS (chewing problems, swallowing difficulties, dry mouth) is associated with functioning, morbidity, nutritional status and eating habits. It also examines the association between the OS burden and HRQoL. Design A cross-sectional study in 2017. Setting All long-term care wards in Helsinki, Finland. Participants 2401 older residents (74% females, mean age 83.9). Measurements Nurses assessed the residents and completed questionnaires on the participants' demographics, functional status, diagnoses, OS and eating habits. Nutritional status was assessed using the Mini Nutritional Assessment (MNA) and HRQoL with a 15-dimensional instrument (15D). Results Of the residents, 25.4% had one OS and 16.6% two or three OS. OS burden was associated linearly with poorer cognitive and physical functioning and a higher number of comorbidities, edentulousness without dentures, and less frequent teeth brushing/denture cleaning. OS burden was also associated with malnutrition, lower BMI and eating less during main meals. In the multivariate analyses adjusted for various confounding factors, a higher number of OS was associated with lower HRQoL. OS burden correlated with nearly all dimensions of HRQoL. Conclusion Oral symptoms are associated with generic HRQoL. Therefore, OS should be regularly assessed and managed in daily care.Peer reviewe

Is there a shared social work signature pedagogy cross-nationally? : Using a case study methodology to explore signature pedagogy in England, Israel, Finland, Spain and Sweden

While there is an international definition of social work as a profession, little is known about whether there is also a shared pedagogy in social work cross-nationally. To our knowledge, this paper is the first empirical study which aims to fill this gap by applying the concept of signature pedagogy in social work education to explore the commonality of social work pedagogy across countries. The study uses a multi-site case study (six universities in five European countries) through applying a 'critical teacher-researcher' approach in generating the data, followed by a two-phased thematic analysis. The study evidenced a shared principle of social work pedagogy which nurtures social work student to think and perform like a social worker and develop the professional self through developing relationships and dialogue, professional practice, group work, self-reflection and critical thinking. It is argued from, this exploratory study, that even between countries which have different welfare ideology as well as social work history and education systems, there is some common ground in social work pedagogy where one can learn from another through the use of 'teacher as researcher' methodologically.Peer reviewe

Perceived quality of nursing care and patient education: a cross-sectional study of hospitalised surgical patients in Finland

OBJECTIVES: This study aims to analyse the relationship between patient education and the quality of surgical nursing care as perceived by patients. The background of the study lies in the importance of a patient-centred approach for both patient education and quality evaluation.DESIGN: This was a cross-sectional descriptive correlational study with surgical patients.SETTING: Data were collected in 2013 in one hospital district in Finland.PARTICIPANTS: 480 hospitalised surgical patients.METHODS: The data were collected using two structured instruments: one measuring the perceived quality of nursing care experienced by patients (Good Nursing Care Scale) and one measuring the received knowledge of hospital patients (RKhp). Data were analysed statistically using descriptive and inferential statistics to describe the sample and study variables. Pearson's correlation coefficients were used to analyse the association between the scales.RESULTS: Surgical hospital patients evaluated the level of the quality of nursing care as high; this was especially true with reference to the environment and staff characteristics, but not to collaboration with family members. Most (85%) of the patients had received sufficient knowledge preoperatively and they were familiar with the proceeding of their care and treatment after discharge; in particular, they had received bio-physiological knowledge, consisting of knowledge of the disease, symptoms and the physiological elements of care. The positive correlation between the perceived quality of surgical nursing care and received knowledge was strong, suggesting a positive relationship between patient education and improvement of the quality of nursing care.CONCLUSIONS: Based on the results, the quality of nursing care and patient education are interconnected. Thus, by improving patient education, the quality of nursing care can also be improved. It is particularly important to improve collaboration with family members and patients' own management strategies as well as the multidimensionality of educational knowledge.</p

Burden of Oral Symptoms and Its Associations With Nutrition, Well-Being, and Survival Among Nursing Home Residents.

Objectives: To explore how oral problems, chewing problems, dry mouth, and swallowing difficulties cluster and whether their burden is associated with nutritional status, eating habits, gastrointestinal symptoms, psychological well-being, and mortality among institutionalized residents. Design: Cross-sectional study with 1-year mortality. Setting and participants: 3123 residents living in assisted facilities and nursing homes in Helsinki, Finland. Measures: Trained nurses assessed residents in all nursing homes and assisted living facilities in Helsinki in 2011. A personal interview, the Mini Nutritional Assessment (MNA), oral symptoms, questions about eating habits, and psychological well-being were used to assess each resident. We divided the subjects first according to the number of oral symptoms into 4 groups: no oral symptoms (G0), 1 oral symptom (G1), 2 oral symptoms (G2), and all 3 symptoms (G3); and second according to the symptoms: dry mouth, chewing problems, and swallowing difficulties. The diagnoses and medications were retrieved from medical records, and mortality data were obtained from central registers. Results: In all, 26% of the subjects had 1 oral problem (G1), 11% had 2 oral problems (G2), and 4% had all 3 oral problems (G3), whereas 60% (n = 1870) had no oral symptoms. Thus, the oral symptoms moderately overlapped. The burden of oral symptoms was linearly associated with malnutrition, higher numbers of comorbidities, dependency in physical functioning, gastrointestinal symptoms, and eating less and more often alone. The higher the burden of oral symptoms, the lower the self-rated health and psychological well-being. Mortality increased along with the higher oral symptoms burden. Among residents having 1 or more symptoms, 26% had chewing problems, 18% swallowing difficulties, and 15% dry mouth. Conclusions/Implications: The burden of oral health problems was associated in a stepwise fashion with poor health and psychological well-being, malnutrition, and mortality. Clinicians should routinely assess older institutionalized residents' oral health status to improve residents' well-being. (C) 2018 AMDA - The Society for Post-Acute and Long-Term Care Medicine.Peer reviewe

Swallowing difficulty and nutrient intakes among residents in assisted living facilities in Helsinki

Background: Swallowing difficulty (SWD) commonly occurs and is associated with malnutrition in old age. Less is known of how SWD is associated with various nutrient intakes. Objectives: To examine how SWD among residents in assisted living facilities. Materials and methods: In this cross-sectional study, we examined 345 residents in Helsinki in 2007. Detailed energy, protein and nutrient intakes were calculated from 1-day food diaries and compared with the Nordic Nutrition Recommendations (NNRs) as a measure of dietary adequacy. Swallowing was assessed by the closest nurse knowing the resident well. Nutritional status was assessed using the Mini-Nutritional Assessment (MNA). Results: Of the participants, 14% (n = 48) suffered from SWD, often had prior stroke, increased comorbidities and lower body-mass index. A larger proportion of residents with SWD consumed oral nutritional supplements. The MNA showed that over 52% of residents with SWD were malnourished, whereas the respective figure was 17% among residents without SWD. A large proportion of the study population had lower than recommended intakes of energy, protein and micronutrients. However, those with SWD differed significantly from those without only in higher protein and lower zinc and folic acid intakes. Conclusion: Although malnutrition was more common among those with SWD than those without, the daily intakes of energy, protein and micronutrients were similar in these groups, highlighting that the risk of malnutrition and low nutrient intakes commonly occurred in both groups of residents in assisted living facilities. (C) 2017 Elsevier Masson SAS and European Union Geriatric Medicine Society. All rights reserved.Peer reviewe

Effects of systematic asymmetric discounting on physician-patient interactions: a theoretical framework to explain poor compliance with lifestyle counseling

BACKGROUND: This study advances the use of a utility model to model physician-patient interactions from the perspectives of physicians and patients. PRESENTATION OF THE HYPOTHESIS: In cases involving acute care, patient counseling involves a relatively straightforward transfer of information from the physician to a patient. The patient has less information than the physician on the impact the condition and its treatment have on utility. In decisions involving lifestyle changes, the patient may have more information than the physician on his/her utility of consumption; moreover, differences in discounting future health may contribute significantly to differences between patients' preferences and physicians' recommendations. TESTING THE HYPOTHESIS: The expectation of differences in internal discount rate between patients and their physicians is discussed. IMPLICATIONS OF THE HYPOTHESIS: This utility model provides a conceptual basis for the finding that educational approaches alone may not effect changes in patient behavior and suggests other economic variables that could be targeted in the attempt to produce healthier behavior

Measuring inequality: tools and an illustration

BACKGROUND: This paper examines an aspect of the problem of measuring inequality in health services. The measures that are commonly applied can be misleading because such measures obscure the difficulty in obtaining a complete ranking of distributions. The nature of the social welfare function underlying these measures is important. The overall object is to demonstrate that varying implications for the welfare of society result from inequality measures. METHOD: Various tools for measuring a distribution are applied to some illustrative data on four distributions about mental health services. Although these data refer to this one aspect of health, the exercise is of broader relevance than mental health. The summary measures of dispersion conventionally used in empirical work are applied to the data here, such as the standard deviation, the coefficient of variation, the relative mean deviation and the Gini coefficient. Other, less commonly used measures also are applied, such as Theil's Index of Entropy, Atkinson's Measure (using two differing assumptions about the inequality aversion parameter). Lorenz curves are also drawn for these distributions. RESULTS: Distributions are shown to have differing rankings (in terms of which is more equal than another), depending on which measure is applied. CONCLUSION: The scope and content of the literature from the past decade about health inequalities and inequities suggest that the economic literature from the past 100 years about inequality and inequity may have been overlooked, generally speaking, in the health inequalities and inequity literature. An understanding of economic theory and economic method, partly introduced in this article, is helpful in analysing health inequality and inequity

Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathypatients

Mitochondrial myopathy (MM) with progressive external ophthalmoplegia (PEO) is a common manifestation of mitochondrial disease in adulthood, for which there is no curative therapy. In mice with MM, ketogenic diet significantly delayed progression of the disease. We asked in this pilot study what effects high-fat, low-carbohydrate modified Atkins diet (mAD) had for PEO/MM patients and control subjects and followed up the effects by clinical, morphological, transcriptomic, and metabolomic analyses. All of our five patients, irrespective of genotype, showed a subacute response after 1.5-2weeks of diet, with progressive muscle pain and leakage of muscle enzymes, leading to premature discontinuation of the diet. Analysis of muscle ultrastructure revealed selective fiber damage, especially in the ragged-red-fibers (RRFs), a MM hallmark. Two years of follow-up showed improvement of muscle strength, suggesting activation of muscle regeneration. Our results indicate that (i) nutrition can modify mitochondrial disease progression, (ii) dietary counseling should be part of MM care, (iii) short mAD is a tool to induce targeted RRF lysis, and (iv) mAD, a common weight-loss method, may induce muscle damage in a population subgroup.Peer reviewe

Sequential application of hyperspectral indices for delineation of stripe rust infection and nitrogen deficiency in wheat

© 2015, Springer Science+Business Media New York. Nitrogen (N) fertilization is crucial for the growth and development of wheat crops, and yet increased use of N can also result in increased stripe rust severity. Stripe rust infection and N deficiency both cause changes in foliar physiological activity and reduction in plant pigments that result in chlorosis. Furthermore, stripe rust produce pustules on the leaf surface which similar to chlorotic regions have a yellow color. Quantifying the severity of each factor is critical for adopting appropriate management practices. Eleven widely-used vegetation indices, based on mathematic combinations of narrow-band optical reflectance measurements in the visible/near infrared wavelength range were evaluated for their ability to discriminate and quantify stripe rust severity and N deficiency in a rust-susceptible wheat variety (H45) under varying conditions of nitrogen status. The physiological reflectance index (PhRI) and leaf and canopy chlorophyll index (LCCI) provided the strongest correlation with levels of rust infection and N-deficiency, respectively. When PhRI and LCCI were used in a sequence, both N deficiency and rust infection levels were correctly classified in 82.5 and 55 % of the plots at Zadoks growth stage 47 and 75, respectively. In misclassified plots, an overestimation of N deficiency was accompanied by an underestimation of the rust infection level or vice versa. In 18 % of the plots, there was a tendency to underestimate the severity of stripe rust infection even though the N-deficiency level was correctly predicted. The contrasting responses of the PhRI and LCCI to stripe rust infection and N deficiency, respectively, and the relative insensitivity of these indices to the other parameter makes their use in combination suitable for quantifying levels of stripe rust infection and N deficiency in wheat crops under field conditions