bluuebunny/crossref_metadata_2025_split huggingface dataset:
Qualität der medizinischen Versorgung von Kindern mit primärer angeborener Hypothyreose
Authors: Hoppmann J. , Vasilakis I. , Vogel M. , Stoll S. , Gesing J. , Gausche R. , Kratzsch J. , Körner A. , Pfäffle R. , Kiess W. 
Published: April 2019

Zusammenfassung
Einleitung Die primäre angeborene Hypothyreose ist die häufigste angeborene endokrine Erkrankung. Ziel unserer Studie war es, zu untersuchen, wie hoch die Qualität der medizinischen Behandlung von Kindern mit primärer angeborener Hypothyreose in Deutschland ist und inwiefern die kürzlich veröffentlichten Empfehlungen der Europäischen Gesellschaft für Kinderendokrinologie (European Society for Paediatric Endocrinology [ESPE]) in der Diagnostik und Therapie der Kinder mit einer primären angeborenen Hypothyreose bereits in der Vergangenheit von den behandelnden Ärzten in der alltäglichen Praxis umgesetzt worden sind.
Methoden Hierzu wurden retrospektiv die Daten aller Patienten, die von 1998 bis 2008 ein positives Testergebnis für eine primäre angeborene Hypothyreose im Neugeborenscreening (NGS) im Screeningzentrum Leipzig aufwiesen, analysiert.
Ergebnisse Das NGS wurde mehrheitlich im empfohlenen Zeitraum durchgeführt. Eine ätiologische Zuordnung der angeborenen Hypothyreose gelang in 71 % der Fälle. Die medikamentöse Therapie mit L-Thyroxin (LT4) wurde durchschnittlich mit 8,5 Lebenstagen begonnen. Eine Normalisierung der Schilddrüsenhormone wurde durchschnittlich innerhalb von 11,4 Tagen nach Behandlungsbeginn erreicht. Eine formale audiologische und neurokognitive Testung im Verlauf wurde zwar lediglich in 25 % und 5 % durchgeführt und dokumentiert. Betroffene Kinder erhielten dennoch die notwendigen Fördermaßnahmen auf Grundlage der klinischen Einschätzung der behandelnden Ärzte.
Diskussion Unsere Studie zeigt, dass die Empfehlungen der kinderendokrinologischen Fachgesellschaft bereits mehrheitlich umgesetzt wurden. Die Diagnostik zur ätiologischen Zuordnung der primären angeborenen Hypothyreose, die Durchführung von audiologischen Untersuchungen sowie die Dokumentation und Nachverfolgung der Patienten bedürfen Verbesserung.
„Ganz der Vater“?
Authors: Singer Dominique 
Published: April 2019

Liebe Leserinnen und Leser,Der Rettungswagen auf dem Titelbild dieser Ausgabe der Zeitschrift für Neonatologie und Geburtshilfe (ZGN) wird es Ihnen schon signalisiert haben: Das vorliegende Heft beginnt mit dem zweiten Teil der im Dezember 2018 begonnenen Serie über geburtshilfliche Notfälle, die uns in insgesamt 5 Folgen noch bis ins Jahr 2020 begleiten wird. Während es im ersten Beitrag v. a. um organisatorisch-logistische Erwägungen ging, steht diesmal das konkrete prähospitale Management bei typischen geburtshilflichen Notfällen im Vordergrund, die oft direkt, nicht selten aber auch nur mittelbar oder gar nicht mit der Schwangerschaft zu tun haben. Speziell zu dieser herausfordernden Differentialdiagnose gibt der Beitrag ebenso wertvolle Hinweise wie zu der Frage, was im prähospitalen Setting – verglichen mit der umfassenden klinischen Behandlung – pragmatisch betrachtet überhaupt zu leisten ist.
Physiotherapeutische Bedarfsaspekte bei Kindern mit Mukoviszidose im Alter von 0 bis 18 Jahren
Authors: Behr A. , Jung M. 
Published: April 2019

Zusammenfassung
Hintergrund Bei dem Krankheitsbild der Mukoviszidose handelt es sich, trotz hohem Forschungsinteresse, um eine immer noch lebensverkürzende, autosomal-rezessiv vererbbare Stoffwechselerkrankung. Ziel dieser Studie ist es, einen Überblick der aktuellen Therapiesituation von Kindern mit Mukoviszidose zu bekommen, um mit diesen Erkenntnissen den physiotherapeutischen Bedarf auszumachen und hinsichtlich des Therapie-managements zu Hause unterstützend einzuwirken.
Methode Es handelt sich um eine deskriptive Querschnittstudie, bei der eine schriftliche Befragung anhand eines von der Autorin selbst erstellten Fragebogens durchgeführt wird. Befragt werden Familien Mukoviszidose-kranker Kinder (0–18 J.) aus den Zentren Trier und Frankfurt. Die Rücklaufquote beträgt ca. 55 % (23/42). Einbezogen wurden unter anderen sozialdemokratischen Aspekten, Fragen zur Therapiedichte, der Aufklärung und Weiterbildung sowie zur Therapie und Stressbeteiligung. Die Auswertung begrenzt sich aufgrund der hohen Datenmenge auf 14 von 28 Fragen.
Ergebnis Es besteht in etwa 46 % der Fälle ein Bedarf an Aufklärung und bei rund 70 % an Weiterbildung für die Therapie zu Hause. Es zeigt sich eine Tendenz, dass sich das Therapiemanagement für die Familien teilweise als ein Stressor darstellt.
Diskussion und Ausblick Die Erhebung der exakten Therapiezeit ist anhand dieses Messinstrumentes nur bedingt möglich. Das Thema Stress und Therapiemanagement sollte, trotz der hiesigen Ergebnisse, nicht außer Acht gelassen werden. Es zeigte sich in der Stichprobe ein Bedarf an Aufklärung und Weiterbildung für die Therapie. Dies ist ein Hinweis für die Physiotherapie, das Therapieangebot in diesem Bereich zu optimieren und damit die Familien effektiv zu unterstützen. Weitere Studien in einem größeren Umfang sind nötig, um eine genauere Einschätzung über den aktuellen Bedarf an Aufklä-rung und Weiterbildung zu bekommen.
Dissection Course in Anatomy as Stimulus to Independent Research and to a Real Step into Medicine
Authors: Nikolenko Vladimir , Oganesyan Marine , Zakirov Felix , Kudryashova Valentina , Rizaeva Nelly , Valiullina Polina 
Published: April 2019

Objectives In the recent years, many strategies in anatomy education have appeared. However, these innovations reduce the time students can spend on cadaver-based classes, which are considered to be an effective method of learning anatomy. The aim of the present research was to observe the advantages and features of dissection sessions in medical universities.
Materials and Methods The comparative analysis of the academic performance of dissector (n = 30) and nondissector (n = 105) students and a survey questionnaire were conducted. The data was collected through the work of the Dissection Mastery School (DMS) of the Sechenov University, Moscow, Russia, between 2016 and 2018.
Results The data analysis showed significant higher examination results in the dissectors cohort (p < 0.001) and a strong opinion about dissection as a good tool to improve anatomy knowledge (95% of responders). Apart from that, prosection is proven to have advantages in comparison with alternative learning approaches, according to researches performed by colleagues.
Conclusion These data show that dissection still remains one of the most effective and beneficial methods of teaching anatomy in medical universities, and that it should be further integrated into the medical curriculum.
Comparative Morphological Studies of the Stifle Menisci in Donkeys, Goats and Dogs
Authors: Abumandour Mohamed M.A. , Bassuoni Naglaa Fathi , El-Gendy Samir , Karkoura Ashraf , El-Bakary Raafat 
Published: April 2019

AbstractThe present work aims to provide more anatomical information on the stifle joint of the investigated species using computed tomography with gross anatomical cross-sections. The current work analyzed the stifle joint of the pelvic limbs of 12 adult donkeys, goats and dogs of both genders. The medial condyle of the femur was larger than the lateral one in the donkey, while it was smaller and lower than the lateral one in the goat and in the dog. The unsuitable femoral and tibial condyles were adapted by the presence of menisci. In the donkey, the medial meniscus was crescentic in shape, but it was semicircular in the goat, while in the dog, the medial and lateral menisci were C-shaped. In the donkey, the medial meniscus was larger than the lateral one, but in the goat and in the dog, the lateral meniscus was the largest, and more concave and thicker. The lateral meniscus was semicircular in the donkey, but it was shaped like an elongated kidney in the goat. In the goat and in the dog, the central border of two menisci was thin, concave and notched centrally. The meniscal ligaments included cranial and caudal ligaments of the medial and lateral menisci, and meniscofemoral ligament of the lateral meniscus. In the dog, the cranial ligament of the medial meniscus was absent, and the medial meniscus had no bony attachment to the tibia but it attached to the transverse intermeniscal ligament, which connected the cranial horn of the medial meniscus with the cranial ligament of the lateral meniscus. The meniscofemoral ligament connected the caudal pole of the lateral meniscus with the intercondyloid fossa of the femur.
ResPRE: high-accuracy protein contact prediction by coupling precision matrix with deep residual neural networks
Authors: Li Yang , Hu Jun , Zhang Chengxin , Yu Dong-Jun , Zhang Yang 
Published: April 2019

Abstract

Motivation
Contact-map of a protein sequence dictates the global topology of structural fold. Accurate prediction of the contact-map is thus essential to protein 3D structure prediction, which is particularly useful for the protein sequences that do not have close homology templates in the Protein Data Bank.

Results
We developed a new method, ResPRE, to predict residue-level protein contacts using inverse covariance matrix (or precision matrix) of multiple sequence alignments (MSAs) through deep residual convolutional neural network training. The approach was tested on a set of 158 non-homologous proteins collected from the CASP experiments and achieved an average accuracy of 50.6% in the top-L long-range contact prediction with L being the sequence length, which is 11.7% higher than the best of other state-of-the-art approaches ranging from coevolution coupling analysis to deep neural network training. Detailed data analyses show that the major advantage of ResPRE lies at the utilization of precision matrix that helps rule out transitional noises of contact-maps compared with the previously used covariance matrix. Meanwhile, the residual network with parallel shortcut layer connections increases the learning ability of deep neural network training. It was also found that appropriate collection of MSAs can further improve the accuracy of final contact-map predictions. The standalone package and online server of ResPRE are made freely available, which should bring important impact on protein structure and function modeling studies in particular for the distant- and non-homology protein targets.

Availability and implementation
https://zhanglab.ccmb.med.umich.edu/ResPRE and https://github.com/leeyang/ResPRE.

Supplementary information
Supplementary data are available at Bioinformatics online.
Develop machine learning-based regression predictive models for engineering protein solubility
Authors: Han Xi , Wang Xiaonan , Zhou Kang 
Published: April 2019

Abstract

Motivation
Protein activity is a significant characteristic for recombinant proteins which can be used as biocatalysts. High activity of proteins reduces the cost of biocatalysts. A model that can predict protein activity from amino acid sequence is highly desired, as it aids experimental improvement of proteins. However, only limited data for protein activity are currently available, which prevents the development of such models. Since protein activity and solubility are correlated for some proteins, the publicly available solubility dataset may be adopted to develop models that can predict protein solubility from sequence. The models could serve as a tool to indirectly predict protein activity from sequence. In literature, predicting protein solubility from sequence has been intensively explored, but the predicted solubility represented in binary values from all the developed models was not suitable for guiding experimental designs to improve protein solubility. Here we propose new machine learning (ML) models for improving protein solubility in vivo.

Results
We first implemented a novel approach that predicted protein solubility in continuous numerical values instead of binary ones. After combining it with various ML algorithms, we achieved a R2 of 0.4115 when support vector machine algorithm was used. Continuous values of solubility are more meaningful in protein engineering, as they enable researchers to choose proteins with higher predicted solubility for experimental validation, while binary values fail to distinguish proteins with the same value—there are only two possible values so many proteins have the same one.

Availability and implementation
We present the ML workflow as a series of IPython notebooks hosted on GitHub (https://github.com/xiaomizhou616/protein_solubility). The workflow can be used as a template for analysis of other expression and solubility datasets.

Supplementary information
Supplementary data are available at Bioinformatics online.
Left ventricular remodelling and change in left ventricular global longitudinal strain after cardiac resynchronization therapy: prognostic implications
Authors: van der Bijl Pieter , Kostyukevich Marina V , Khidir Mand , Ajmone Marsan Nina , Delgado Victoria , Bax Jeroen J 
Published: April 2019

Abstract

Aims
Cardiac resynchronization therapy (CRT) can reduce left ventricular end-systolic volume (LVESV), and a decrease of ≥15% is defined as a response. CRT can also improve LV global longitudinal strain (GLS). Changes in LVESV and LV GLS are individually associated with outcome post-CRT. We investigated LVESV and LV GLS changes and prognostic implications of improvement in LVESV and/or LV GLS, compared with no improvement in either parameter.

Methods and results
Baseline and 6-month echocardiograms were analysed from CRT recipients with heart failure. LV reverse remodelling was defined as a ≥15% reduction in LVESV at 6 months post-CRT. A ≥5% absolute improvement in LV GLS was defined as a change in LV GLS. A total of 1185 patients were included (mean age 65 ± 10 years, 73% male), and those with an improvement in LVESV and LV GLS (n = 131, 11.1%) had significantly lower mortality compared with other groups. On multivariable analysis, an improvement in both LVESV and LV GLS [hazard ratio (HR): 0.47; 95% confidence interval (CI): 0.31–0.71; P < 0.001] or an improvement in either LVESV or LV GLS (HR: 0.57; 95% CI: 0.47–0.71; P < 0.001) were independently associated with better prognosis, compared with no improvement in either parameter.

Conclusion
Either a reduction in LVESV and/or an improvement in LV GLS at 6 months post-CRT are independently associated with improved long-term prognosis, compared with no change in both LVESV and LV GLS. This supports the use of LV GLS as a meaningful parameter in defining CRT response.
Ambulatory care-sensitive emergency department cases: a mixed methods approach to systemize and analyze cases in Germany
Authors: Schuettig Wiebke , Sundmacher Leonie 
Published: April 2019

AbstractBackgroundInternationally, emergency departments (ED) are treating increasing numbers of patients with conditions that could have been managed appropriately in ambulatory care (AC) settings. The aim of our study was to develop the first consensus-based list of AC-sensitive conditions commonly seen in German EDs and explore predictors of these visits.MethodsOur study used a Delphi survey of 30 physicians to compile a list of conditions they agreed were amenable to AC treatment. The group identified reasons why patients visit EDs instead of AC. We used the results to inform spatial regression models analysing the association of patient characteristics and attributes of AC with AC-sensitive ED visits based on 2015 district-level data.ResultsOur study provides a list of AC-sensitive conditions based on the German ED context. Results suggest that, up to the age of 70 years, the older the patients, the less likely they seek EDs for these conditions. Results of our regression analyses suggest that AC-sensitive ED rates were significantly higher in districts with lower physician density. Patients’ urgency perception and preferences were identified as main drivers of AC-sensitive ED visits.ConclusionFuture policy measures should aim to help guide patients through the healthcare system so that they receive the best care in place that is most appropriate in terms of quality, safety and continuity of care. A list of AC-sensitive ED conditions can be used as a monitoring instrument and for further analyses of routine data to inform policy makers seeking to improve resource use and allocation.
General practitioners’ concepts on issuing out-of-pocket prescriptions for hypnotics and sedatives in Germany
Authors: Schmalstieg-Bahr Katharina , Müller Christiane A , Hummers Eva 
Published: April 2019

Abstract

Background
In Germany, almost 50% of prescriptions for benzodiazepines and drugs as Zolpidem and Zopiclone are as out-of-pocket (OOP) prescriptions—requiring patients to buy the drug at their own expense—although almost 90% of the population has statutory health insurance covering medication costs.

Objective
To understand why general practitioners (GPs) choose this prescribing method since needed medications are insurance covered, and unnecessary drugs should not be prescribed at all.

Methods
In this qualitative study, 17 semi-structured interviews with GPs were conducted, audio recorded and transcribed verbatim. Transcripts were analysed with grounded theory to extract a model explaining the described behaviour.

Results
Knowing the significant medical risks and insecurity about regulations makes GPs wish to avoid hypnotics and sedatives. They achieve this by ‘Creating a barrier’ (central phenomenon) and employing the strategy ‘Using an out-of-pocket prescription’, which not only generates costs for the patient but also reduces the physicians´ legal and financial accountability. The perceived patient type, expected problem duration and diagnosis influence the decision about the prescription form: patients with an alcohol or drug addiction or those with ‘uncomplicated’ insomnia are more likely to receive an OOP prescription. Patients with any psychiatric diagnosis will likely receive a statutory health insurance prescription.

Discussion
Current regulations do not provide guidance to GPs regarding hypnotics and sedatives. A clear regulatory framework and guidelines could possibly reduce physicians’ defensive attitudes about these drugs and their use of OOP prescriptions. The approach to use OOP prescriptions as a barrier to reduce patients’ medication use lacks evidence regarding effectiveness.
Understanding the Barriers and Enablers to Using Outdoor Spaces in Nursing Homes: A Systematic Review
Authors: van den Berg Maayken E L , Winsall Megan , Dyer Suzanne M , Breen Fidelma , Gresham Meredith , Crotty Maria 
Published: April 2019

Abstract

Background and Objectives
Despite acknowledged benefits of residents in nursing homes spending time outdoors, little is known about factors related to their use of outdoor space. This systematic review summarizes reported barriers and enablers to nursing home residents’ use of outdoor spaces.

Research Design and Methods
Multiple databases were searched to May 2018. Qualitative or mixed methods studies describing barriers/enablers to use of outdoor areas by residents of nursing homes (aged 65 years and older), as reported by residents, staff, or family members were included. Study quality rating, thematic analysis, and stratified analyses were performed and confidence in findings assessed using GRADE-CERQual.

Results
Twenty-four studies were included. Nineteen collected data from residents, 15 from staff/caregivers, 7 from families. Major themes and key findings concerned: design of the outdoor area (importance of garden greenery and built features), safety concerns and staffing issues, weather and seasons (appropriate shade and shelter), design of the main building (easy to open doors and nearby access points) and social activities.

Conclusions and Implications
Providing gardens with seasonal plants and interactive features, weather protected seating, manageable doors at accessible thresholds, planned social activities, and appropriate clothing are fundamental to facilitate nursing home residents’ access to the outdoors. Cultural change at an organizational level, addressing perceptions of safety as a barrier is important. Incorporation of the recommendations in this review by architects, facility managers, and policy makers in the design and management of nursing homes, may increase use of outdoor areas and improve the quality of life of residents.

Registration
The protocol is registered in Prospero (CRD42018100249).
Placental DNA methylation levels at CYP2E1 and IRS2 are associated with child outcome in a prospective autism study
Authors: Zhu Yihui , Mordaunt Charles E , Yasui Dag H , Marathe Ria , Coulson Rochelle L , Dunaway Keith W , Jianu Julia M , Walker Cheryl K , Ozonoff Sally , Hertz-Picciotto Irva , Schmidt Rebecca J , LaSalle Janine M 
Published: April 2019

Abstract
DNA methylation acts at the interface of genetic and environmental factors relevant for autism spectrum disorder (ASD). Placenta, normally discarded at birth, is a potentially rich source of DNA methylation patterns predictive of ASD in the child. Here, we performed whole methylome analyses of placentas from a prospective study MARBLES (Markers of Autism Risk in Babies—Learning Early Signs) of high-risk pregnancies. A total of 400 differentially methylated regions (DMRs) discriminated placentas stored from children later diagnosed with ASD compared to typically developing controls. These ASD DMRs were significantly enriched at promoters, mapped to 596 genes functionally enriched in neuronal development, and overlapped genetic ASD risk. ASD DMRs at CYP2E1 and IRS2 reached genome-wide significance, replicated by pyrosequencing and correlated with expression differences in brain. Methylation at CYP2E1 associated with both ASD diagnosis and genotype within the DMR. In contrast, methylation at IRS2 was unaffected by within DMR genotype but modified by preconceptional maternal prenatal vitamin use. This study therefore identified two potentially useful early epigenetic markers for ASD in placenta.