Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous disorder characterized by bone fragility and reduced bone mass generally caused by defects in type I collagen structure or defects in proteins interacting with collagen processing. We identified a homozygous missense mutation in SEC16B in a child with vertebral fractures, leg bowing, short stature, muscular hypotonia, and bone densitometric and histomorphometric features in keeping with OI with distinct ultrastructural features. In line with the putative function of SEC16B as a regulator of trafficking between the ER and the Golgi complex, we showed that patient fibroblasts accumulated type I procollagen in the ER and exhibited a general trafficking defect at the level of the ER. Consequently, patient fibroblasts exhibited ER stress, enhanced autophagosome formation, and higher levels of apoptosis. Transfection of wild-type SEC16B into patient cells rescued the collagen trafficking. Mechanistically, we show that the defect is a consequence of reduced SEC16B expression, rather than due to alterations in protein function. These data suggest SEC16B as a recessive candidate gene for OI.

Time-Synchronized MRI-Assessment of Respiratory Apparatus Subsystems-A Feasibility Study.

The thorax (TH), the thoracic diaphragm (TD), and the abdominal wall (AW) are three sub-systems of the respiratory apparatus whose displacement motion has been well studied with the use of magnetic resonance imaging (MRI). Another sub-system, which has however received less research attention with respect to breathing, is the pelvic floor (PF). In particular, there is no study that has investigated the displacement of all four sub-systems simultaneously. Addressing this issue, it was the purpose of this feasibility study to establish a data acquisition paradigm for time-synchronous quantitative analysis of dynamic MRI data from these four major contributors to respiration and phonation (TH, TD, AW, and PF). Three healthy females were asked to breathe in and out forcefully while being recorded in a 1.5-Tesla whole body MR-scanner. Spanning a sequence of 15.12 seconds, 40 MRI data frames were acquired. Each data frame contained two slices, simultaneously documenting the mid-sagittal (TH, TD, PF) and transversal (AW) planes. The displacement motion of the four anatomical structures of interest was documented using kymographic analysis, resulting in time-varying calibrated structure displacement data. After computing the fundamental frequency of the cyclical breathing motion, the phase offsets of the TH, PF, and AW with respect to the TD were computed. Data analysis revealed three fundamentally different displacement patterns. Total structure displacement was in the range of 0.94 cm (TH) to 4.27 cm (TD). Phase delays of up to 90∘ (i.e., a quarter of a breathing cycle) between different structures were found. Motion offsets in the range of -28.30∘ to 14.90∘ were computed for the PF with respect to the TD. The diversity of results in only three investigated participants suggests a variety of possible breathing strategies, warranting further research.

Sustainability of Hiking in Combination with Coaching in Cardiorespiratory Fitness and Quality of Life.

Although strong evidence shows that physical inactivity and sedentary behavior are associated with many negative health outcomes, inactive lifestyles are still increasing. Consequently, new approaches must be developed to increase adherence to an active lifestyle and hence a longer life. Green exercise and health coaching could be effective ways to induce long-lasting lifestyle changes geared towards more physical activity. In this randomized controlled trial, we investigated the effects of mountain hiking and psychological coaching on adults with a sedentary lifestyle. The coaching group (n = 26) participated in a 7-day guided hiking program with three personal coaching sessions, whereas the hiking group (n = 32) received no coaching. The effects on aerobic capacity, spirometry and quality of life were assessed at baseline (day 0), after the intervention week (day 7) and after 80 days. Fully nonparametric statistical analysis revealed a gender-based effect for aerobic capacity-the female participants of the coaching group showed a greater improvement (p = 0.03) than the hiking group. No significant effects were found for spirometry. Quality of life parameters improved in both groups. In conclusion, both green exercise and health coaching are capable of inducing improvements in health-related quality of life and cardiorespiratory fitness. No superior effects of health coaching were found.

Winter Exercise and Speleotherapy for Allergy and Asthma: A Randomized Controlled Clinical Trial.

(1) Background: The prevalence of allergic respiratory diseases is still rising and efforts towards holistic treatments should be made. Although speleotherapy is widely applied in Europe to treat chronic airway diseases, the existing scientific evidence is rather low. Recreational winter exercise has been shown to improve allergic airway inflammation, but little is known about the combined effects of speleotherapy and recreational winter exercise. (2) Methods: In this clinical study we investigated the effects of winter exercise and speleotherapy on adults with allergic rhinitis and/or asthma. The speleotherapy group (n = 23) participated in a ten-day combined winter exercise and speleotherapy program and the exercise group (n = 18) joined a full-day winter sports program. The effects on allergic airway inflammation, quality of life, spirometry and cardiorespiratory fitness were assessed. (3) Results: No significant effects were found for fractional exhaled nitric oxide or nasal nitric oxide. Quality of life (p < 0.001 time effect) and allergic symptoms (p < 0.001 time effect) were improved in the speleotherapy and in the exercise group. (4) Conclusions: Winter exercise alone and winter exercise in combination with speleotherapy improve quality of life and allergic symptoms in adults with allergic rhinitis and/or asthma. Further studies are required to investigate the specific effects of speleotherapy. To our knowledge, this is the first investigation examining speleotherapy in combination with winter exercise. Recreational outdoor winter exercise and speleotherapy may be recommended for highly functioning patients with good disease control.

The association between shift patterns and the quality of hand antisepsis in a neonatal intensive care unit: An observational study.

BACKGROUND: Healthcare-associated infections represent a major burden in neonatal intensive care units. Hand antisepsis is the most important tool for prevention, however, compliance among healthcare workers remains low. OBJECTIVES: To prospectively evaluate the influence of different work shifts (extended working hours, night shifts) on the quality of healthcare workers' hand antisepsis. DESIGN: Observational study. SETTINGS: Two equivalent "Level III" neonatal intensive care units at the University Hospital Vienna, Austria. PARTICIPANTS: Seventy healthcare workers, 46 nurses and 24 physicians. METHODS: The Semmelweis Scanner, an innovative training device assessing the quality of hand antisepsis with an ultraviolet dye labelled alcohol-based hand rub, was employed to collect data on the hand surface coverage achieved during hand antisepsis of participants. It provides visual feedback of appropriately versus inappropriately disinfected areas of the hand and can also be used for the objective quantification of hand surface coverage with the hand rub. Measurements were performed before and after 12.5 h (h) day and night shifts (nurses), as well as before and after regular 8 h day shifts and extended 25 h shifts (physicians). To avoid any bias caused by residual ultraviolet marker, scans had to be separated by 24 h periods. Primary outcome was the hand surface coverage with the hand rub: Hand scans were categorized as "passed" if an appropriate quality of hand hygiene, defined as a minimum 97% coverage of hand surface, was achieved. A generalized mixed model was used to analyse the data accounting for repeated measurements. RESULTS: Seventy healthcare workers performed a total of 485 scans. Nineteen scans had to be excluded, resulting in 466 scans for further analyses. A difference in the predicted probability of achieving appropriate hand antisepsis was found between the beginning and end of extended shifts: In physicians, adequate hand antisepsis was remarkably reduced after 25 h shifts (predicted probability 99.4% vs 78.8%), whereas there was no relevant difference between the beginning and end of 8 h day shifts (92.2% vs 97.3%). In nurses, a relevant difference was found between the beginning and end of 12.5 h day shifts (88.6% vs 73.6%). This difference was not found for 12.5 h night shifts. The most frequently missed area on the hands was the right dorsum. CONCLUSION: The quality of hand antisepsis of healthcare workers in neonatal intensive care units may be associated with long working hours.

The Role of Anthropogenic Elements in the Environment for Affective States and Cortisol Concentration in Mountain Hiking-A Crossover Trial.

Green exercise might have positive effects on health and affective states. Little is known about the ideal characteristics of the natural environment, where exercise is conducted in. Thus, the primary aim of the present study was to investigate the effects of anthropogenic elements on acute stress-related physiological responses and affective states in green exercise. Using a crossover field study design, 52 healthy participants were exposed to two different mountain hiking conditions: An environment with less anthropogenic elements and an environment with more anthropogenic elements. Pre and post conditions, affective states and salivary cortisol concentration were measured. Repeated measures ANOVAs were used to analyze if pre-post changes differed between the conditions. Pre-post changes in affective states and salivary cortisol concentration did not significantly differ, partial η² < 0.06. Positive affective states showed significantly higher values post compared to pre-condition, partial η² > 0.13. The present results indicate that anthropogenic elements have a minor role in the influence on affective states and salivary cortisol concentration during mountain hiking. It is concluded that a single bout of mountain hiking independent of anthropogenic elements in the environment is effective in influencing affective states positively.

Diagnostic accuracy of the ROCHE Septifast PCR system for the rapid detection of blood pathogens in neonatal sepsis-A prospective clinical trial.

INTRODUCTION: Diagnosis of neonatal sepsis remains a major challenge in neonatology. Most molecular-based methods are not customized for neonatal requirements. The aim of the present study was to assess the diagnostic accuracy of a modified multiplex PCR protocol for the detection of neonatal sepsis using small blood volumes. METHODS: 212 episodes of suspected neonatal late onset sepsis were analyzed prospectively using the Roche SeptiFast® MGRADE PCR with a modified DNA extraction protocol and software-handling tool. Results were compared to blood culture, laboratory biomarkers and clinical signs of sepsis. RESULTS: Of 212 episodes, 85 (40.1%) were categorized as "not infected". Among these episodes, 1 was false positive by blood culture (1.2%) and 23 were false positive by PCR (27.1%). Of 51 (24.1%) episodes diagnosed as "culture proven sepsis", the same pathogen was detected by blood culture and PCR in 39 episodes (76.5%). In 8 episodes, more pathogens were detected by PCR compared to blood culture, and in 4 episodes the pathogen detected by blood culture was not found by PCR. One of these episodes was caused by Bacillus cereus, a pathogen not included in the PCR panel. In 76/212 (35.8%) episodes, clinical sepsis was diagnosed. Among these, PCR yielded positive results in 39.5% of episodes (30/76 episodes). For culture-positive sepsis, PCR showed a sensitivity of 90.2% (95%CI 86.2-94.2%) and a specificity of 72.9% (95%CI 67.0-79.0%). CONCLUSION: The Roche SeptiFast® MGRADE PCR using a modified DNA extraction protocol showed acceptable results for rapid detection of neonatal sepsis in addition to conventional blood culture. The benefit of rapid pathogen detection has to be balanced against the considerable risk of contamination, loss of information on antibiotic sensitivity pattern and increased costs.

[Burnout and coping in long term care units. A regional comparison in registered nurses]. / Burnout und Coping in der stationären Altenpflege. Ein regionaler Vergleich an examinierten Pflegekräften.

The daily routine of nurses in long term care units is characterized by a variety of physical and psychological burdens. This study is dedicated to work load, burnout, health and coping of this target group. Registered nurses were surveyed in two federal states of Austria, namely in Vienna (n = 78) and Carinthia (n = 59). The individuals of the, on average, older Viennese sample who often feel destined for this occupation face younger colleagues from rural areas whose motivations are predominantly pro-social and economic. The results show an alarming proportion of emotional exhaustion (23%) and aversion to residents (17%). The participants felt particularly burdened by work conditions and the old people they are caring for. Carinthian nurses estimated their state of health to be better than that of their Viennese colleagues. The Viennese sample was found to be significantly more discontent than the Carinthian one. The study underlines the high risk of burnout for nurses in long term care units.

[Behind each door you will find death: institutionalized dying]. / Hinter jeder Tür der lauernde Tod: Institutionalisiertes Sterben.

Basic changes in our society and social system lead to a repression of old, frail and impaired people. They are increasingly institutionalized, and the issue of death and dying is delegated to experts. The present investigation describes the burden of routine care of dying people. "Mixed methodology" was used to obtain comprehensive and relevant data. General questions were deduced for the research subject based on qualitative interviews with 17 members of the nursing staff. These questions complete the questionnaire used to conduct the survey in 49 nursing homes. All kinds of occupational groups took part in the study. The quantitative data (n=894) were analyzed descriptively and proved for group differences with nonparametric methods. The results show that talking about the end of life with residents is difficult for almost a quarter of the participating persons. Nearly one third of the staff members tend to avoid the topic of death and dying when talking with relatives. High importance was attached to further interdisciplinary training in terminal care. Working together with different occupational groups like hospice volunteers, chaplains, psychologists and caregivers is seen as a fruitful way and a possibility of increasing the quality of dying in nursing homes.