Quality of chronic care for patients with type 2 diabetes in practices with and without a Clinical Specialized Medical Assistant (CSMA) - a cross-sectional study from Switzerland.

BACKGROUND Due to Switzerland's shortage of general practitioners (GPs), task shifting through interprofessional collaboration is needed to relieve GPs' workload and allow the continued provision of quality care. The profession of specialized medical assistant (SMA) was created in Switzerland several years ago to provide a career advancement opportunity for medical practice assistants (MPAs) and intended to counteract the increasing scarcity of resources in primary care. Clinical specialized medical assistants (CSMAs) are trained to care for a set of chronic conditions, such as diabetes. OBJECTIVE We aimed to compare the quality of care for patients with type 2 diabetes in practices with and without CSMAs. Further, we aimed to investigate whether evidence exists that CSMA care models may allow for task shifting and the provision of interprofessional care while maintaining a high quality of care and to assess patient experiences with diabetes care in both care models. METHODS The present study was a paper-based cross-sectional survey of patient data. A total of 171 patients with type 2 diabetes who had been under the care of either a GP with CSMA (91 patients) or a GP without CSMA (80 patients) for at least one year were consecutively recruited for the study. Data were collected from mid-September 2020 to mid-June 2021. For the statistical analyses, we used descriptive statistics and t-tests. RESULTS Patients from both practice types were comparable in age, gender and diabetes-relevant factors such as Body Mass Index, smoking status and blood pressure. Overall, patients in both models received a high quality of care (Diabetes Treatment Satisfaction Questionnaire, DTSQ >32/36 points, SGED >75 points) and a low treatment burden (Treatment Burden Questionnaire, TBQ <20/150 points). When comparing patients' DTSQ, SGED and TBQ in both groups, we found no significant differences in diabetes-specific satisfaction (32.1 [SD 3.6] vs. 32.4 [SD 3.8], p = 0.7), SGED score (80.2 [SD 8.5] vs. 75.9 [SD 4.8], p = 0.18) or treatment burden (19.2 [SD 15.6] vs. 18.8 [SD 21.4], p = 0.89). CONCLUSION Our comparison of patient-reported outcomes and SGED criteria of patients with type 2 diabetes in practices with and without CSMAs showed an equally high quality of care and a low treatment burden. More research is needed on the long-term effects and benefits of the care provided by CSMAs and which other tasks could be shifted to CSMAs to reduce the burden on GPs in the future. At the same time, an increasing number of patients with type 2 diabetes will require high-quality primary care

Molekulare Therapien bei neuromuskulären Erkrankungen im Kindesalter — Große Hoffnungen und unbekannte Risiken

Spinal muscular atrophy and muscular dystrophy Duchenne belong to the group of rare neuromuscular diseases manifesting in early childhood. Therapeutic options for some of these rare monogenic diseases have changed significantly in recent years. Molecular therapies such as direct gene transfer or alternative processing of the disease-specific gene play an important role in this transformation.In particular, the course of 5q-associated spinal muscle atrophy has changed significantly due to the availability of such causal therapies, while the results of ongoing studies are still pending for most muscle diseases. In the area of neuromuscular diseases, an achievable therapeutic goal is to slow the progression, but not complete healing. Currently, only limited data are available. In particular, the long-term effectiveness and the possible risks are still unknown. Therefore, these therapies should be used under strictly monitored conditions

Expression of osterix Is Regulated by FGF and Wnt/β-Catenin Signalling during Osteoblast Differentiation

Osteoblast differentiation from mesenchymal cells is regulated by multiple signalling pathways. Here we have analysed the roles of Fibroblast Growth Factor (FGF) and canonical Wingless-type MMTV integration site (Wnt/β-Catenin) signalling pathways on zebrafish osteogenesis. We have used transgenic and chemical interference approaches to manipulate these pathways and have found that both pathways are required for osteoblast differentiation in vivo. Our analysis of bone markers suggests that these pathways act at the same stage of differentiation to initiate expression of the osteoblast master regulatory gene osterix (osx). We use two independent approaches that suggest that osx is a direct target of these pathways. Firstly, we manipulate signalling and show that osx gene expression responds with similar kinetics to that of known transcriptional targets of the FGF and Wnt pathways. Secondly, we have performed ChIP with transcription factors for both pathways and our data suggest that a genomic region in the first intron of osx mediates transcriptional activation. Based upon these data, we propose that FGF and Wnt/β-Catenin pathways act in part by directing transcription of osx to promote osteoblast differentiation at sites of bone formation

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders exclusively or predominantly affecting the sensory and autonomic neurons. Due to the rarity of the diseases and findings based mainly on single case reports or small case series, knowledge about these disorders is limited. Here, we describe the molecular workup of a large international cohort of CIP/HSAN patients including patients from normally under-represented countries. We identify 80 previously unreported pathogenic or likely pathogenic variants in a total of 73 families in the >20 known CIP/HSAN-associated genes. The data expand the spectrum of disease-relevant alterations in CIP/HSAN, including novel variants in previously rarely recognized entities such as ATL3-, FLVCR1- and NGF-associated neuropathies and previously under-recognized mutation types such as larger deletions. In silico predictions, heterologous expression studies, segregation analyses and metabolic tests helped to overcome limitations of current variant classification schemes that often fail to categorize a variant as disease-related or benign. The study sheds light on the genetic causes and disease-relevant changes within individual genes in CIP/HSAN. This is becoming increasingly important with emerging clinical trials investigating subtype or gene-specific treatment strategies

Transkulturelle Kommunikation als ethische Herausforderung im Gesundheitsbereich. Aktuelle Problemfelder und innovative Lösungsansätze.

Migrant/innen erhalten tendenziell eine schlechtere Gesundheitsversorgung als Menschen ohne Migrationshintergrund. Einer der Hauptgründe dafür liegt in der Sprachbarriere. Der Status Quo bei der Überwindung dieser Barriere stellt in Österreich vorwiegend die kurzfristige Beiziehung von Laiendolmetscher/innen, das Kommunizieren „mit Händen und Füßen“ und das Verwenden übersetzter Informationsmaterialien dar. Daraus entstehen Belastungen für Patient/innen und Mitarbeitende im Gesundheitswesen, die auf Basis der Forschungsliteratur gesammelt und diskutiert werden. Teilweise stehen Krankenhäusern Telefon- und Videodolmetschdienste zur Verfügung.Diese Masterarbeit geht der Frage nach, welche professionellen, transkulturellen Kommunikationsmaßnahmen im intramuralen Gesundheitswesen notwendig sind und durch welche rechtlichen Normen und ethische Argumente sich diese begründen lassen. Dafür werden österreichische und steirische Rechtsdokumente herangezogen. In weiterer Folge wird die ethische Dimension anhand der Menschenrechte, der bioethischen Prinzipien nach Beauchamp und Childress und des Genfer Gelöbnisses diskutiert. Sowohl aus den Erkenntnissen aus den rechtlichen Normen als auch aus den ethischen Argumenten werden Kriterien für eine gelingende transkulturelle Kommunikation abgeleitet. Diese Kriterien bilden die Basis für eine Beurteilung des Status Quo der Dolmetschlösungen in Österreich und der aktuellen technischen Innovationen, beispielsweise Dolmetschsoftware. Basierend auf den Ergebnissen der vorliegenden Masterarbeit fordert die Autorin diskriminierungsfreie Kommunikationsmöglichkeiten für alle Patient/innen, konkreter die selbstverständliche Beiziehung professioneller Dolmetscher/innen und/oder die Entwicklung von technischen Dolmetschmöglichkeiten speziell für das Gesundheitswesen unter Einhaltung strenger Datenschutzvorgaben.Migrants often receive poorer health care than people without a migration background. One of the main reasons is the language barrier. At the moment in Austria this barrier is often overcome by using amateur interpreters, by communicating through gestures and by using translated information. These practices put a strain on patients as well as healthcare workers, which is being discussed based on research literature. Some hospitals already have the opportunity to use telephone interpreting or video remote interpreting. This master thesis provides answers to the question of necessity for transcultural communication measures in the health care sector and if so, on which legal and ethical norms it is based on. Austrian and Styrian law offer one basis for this necessity, the other one being ethical dimensions such as human rights, The Principles of Biomedical Ethics (developed by Beauchamp and Childress) and The Declaration of Geneva and their respective arguments. These laws and theories are being compared and discussed using relevant literature. The author derives her own criteria for successful transcultural communication from the previously outlined legal and ethical dimensions. The status quo of interpreting in Austria as well as technological innovations for example interpreting software are judged by applying these criteria. As a conclusion to her findings the author demands communication measures for all patients in intramural healthcare, without any discrimination. Specifically, there is a need for professional interpreters and/or the development of technological interpreting measures that are especially fit for the healthcare sector and fulfill high data protection standards.Arbeit an der Bibliothek noch nicht eingelangt - Daten nicht geprüftAbweichender Titel laut Übersetzung des Verfassers/der VerfasserinKarl-Franzens-Universität Graz, Masterarbeit, 2020(VLID)509920

Wnt/β-Catenin signalling regulates ossification and development of mature osteoblasts.

<p>(A-F) Continuous inhibition (<i>hs</i>:<i>dkk1</i>) or over activation (<i>hs</i>:<i>wnt8</i>) of Wnt/β-Catenin signalling from 72-120hpf. Inhibition of Wnt/β-Catenin signalling results in reduced ossification as shown by Alizarin red staining (B) whereas cartilage formation is largely unaffected (E). Overactivation of Wnt/β-Catenin signalling results in increased ossification and precocious ossification of the hyomandibula (C). (G-L) Analysis of osteoblast markers after treatment from 72-108hpf. Expression of mature osteoblast markers <i>col1a2</i> and <i>col10a1</i> is slightly reduced when Wnt/β-Catenin signalling is inhibited (H,K) and enhanced by increased Wnt/β-Catenin signalling (I,L). Abbreviations: hm = hyomandibula, op = opercle, te = teeth. Scale bar = 50μM.</p

<i>osx</i> is likely to be a direct target of FGF and Wnt/β-Catenin signalling.

<p>(A) Down regulation of <i>osx</i> and <i>pea3</i> by SU5402 show the same kinetics as monitored by qPCR over a two hour period. (B) Down regulation of <i>osx</i> and <i>TOP</i>:<i>GFP</i> in <i>hs</i>:<i>dkk1</i> fish shows the same kinetics as monitored by qPCR over a six hour period. (C) A diagram of the <i>osx</i> gene centred on the first start codon in exon 1 (white box). Light blue shading shows conservation between zebrafish and medaka genomic sequence (<a href="http://genome.ucsc.edu/" target="_blank">http://genome.ucsc.edu/</a>). Putative Lef/Tcf, Ets1/2 and Runx2 binding sites are indicated above. The amplicons used for ChIP analysis are indicated below, the numbers represent the approximate centre of the amplicon in relation to the start. (D, E) β-Catenin (at 53hpf) and Ets1/2 (at 53hpf) preferentially bind to <i>osx</i> genomic sequences when compared to the unrelated gene <i>her9</i>. The input bar is the ratio of <i>her9</i> amplicon to <i>osx</i> amplicon before antibody pull down and the ChIP bar is that ratio after pull down. For normalisation, the input ratio of <i>her9</i> to <i>osx</i> amplicon is set to 1. Panel E also shows ChIP from fish treated from 51-53hpf with SU5402 which have a mild reduction in Ets1/2 binding activity. p<0.015 for β-CatChIP at osx1146 and p<0.001 for EtsChIP at osx1146.</p

FGF signalling is required for ossification and osteoblast maturation.

<p>(A-D) Continuous inhibition of FGF signalling from 48hpf to 120hpf in <i>hs</i>:<i>dnfgfr1</i> larvae results in loss of ossification (B) but cartilage formation is relatively unaffected (D). (E-H) Expression of mature osteoblast markers <i>col1a2</i> and <i>col10a1</i> is severely reduced in <i>hs</i>:<i>dnfgfr1</i> larvae (F,H). High magnification images of the opercle are shown to the right of panels E-H. Abbreviations: bs = branchiostegal ray, cl = cleithrum, op = opercle. Scale bar = 200μM.</p

A model for how interactions between FGF and Wnt/β-Catenin signalling pathways interact to regulate <i>osx</i> transcription.

<p>A model for how interactions between FGF and Wnt/β-Catenin signalling pathways interact to regulate <i>osx</i> transcription.</p

Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening

The aim of this study was to assess the psychosocial burden in parents of children with spinal muscular atrophy (SMA), detected by newborn screening (NBS), for which first pilot projects started in January 2018 in Germany. The survey, performed 1&ndash;2 years after children&rsquo;s diagnosis of SMA via NBS, included 3 parent-related questionnaires to evaluate the psychosocial burden, quality of life (QoL)/satisfaction and work productivity and activity impairment in the families. 42/44 families, detected between January 2018 and February 2020, could be investigated. Interestingly, statistical analysis revealed a significant difference between families with children that received SMN-targeted therapy vs. children with a wait-and-see strategy as to social burden (p = 0.016) and personal strain/worries about the future (p = 0.02). However, the evaluation of QoL showed no significant differences between treated vs. untreated children. Fathers of treated children felt more negative impact regarding their productivities at work (p = 0.005) and more negative effects on daily activities (p = 0.022) than fathers of untreated children. Thus, NBS in SMA has a psychosocial impact on families, not only in terms of diagnosis but especially in terms of treatment, and triggers concerns about the future, emphasizing the need for comprehensive multidisciplinary care. Understanding the parents&rsquo; perspective allows genetic counselors and NBS programs to proactively develop a care plan for parents during the challenging time of uncertainty, anxiety, frustration, and fear of the unknown