bluuebunny/crossref_metadata_2025_split huggingface dataset:
Die akute Promyelozytenleukämie – Eine seltene, lebensbedrohliche Erkrankung mit hoher Heilungschance
Authors: Nolte Florian , Lengfelder Eva , Hofmann Wolf-Karsten 
Published: February 2018

Was ist neu?
Epidemiologie Die APL ist eine sehr seltene Erkrankung. Ihre hohen Heilungschancen können verspielt werden, wenn sie nicht frühzeitig bei entsprechenden klinischen Symptomen und laborchemischen Veränderungen differenzialdiagnostisch berücksichtigt wird.
Klinische Präsentation Neben Zeichen der hämatopoetischen Insuffizienz wie mehr oder weniger stark ausgeprägten Zytopenien oder Leukozytose (bei der varianten Form) sind lebensbedrohliche Blutungskomplikationen typische Symptome bereits bei Erstdiagnose. Intrakranielle und pulmonale Blutungen sind die häufigsten hämorrhagischen Todesursachen.
Diagnostik Bei Verdacht auf APL muss neben der rasch verfügbaren morphologischen Diagnostik umgehend der Nachweis der Translokation t(15;17) bzw. der Fusionsgene PML/RARA mittels molekularzytogenetischer Verfahren erfolgen.
Therapie der akuten Promyelozytenleukämie Die Therapie muss wegen fataler hämorrhagischer Blutungskomplikationen schon bei Verdacht auf das Vorliegen einer APL mit ATRA eingeleitet werden, auch wenn die Diagnose APL noch nicht genetisch belegt ist. Patienten mit Leukozytenwerten von < 10 000/µl werden mit einer Kombination aus ATRA und ATO behandelt, während die Standardtherapie bei höheren Leukozytenwerten noch aus ATRA und Anthrazyklin- plus Cytosinarabinosid-haltiger konventioneller Chemotherapie besteht. In klinischen Studien werden auch für diese Patientenpopulation Therapieprotokolle untersucht, die den Einsatz konventioneller Chemotherapeutika zugunsten von ATRA und ATO zurücknehmen.
Ausblick Nach wie vor ist die Rate an den in der Mehrzahl hämorrhagisch bedingten Frühtodesfällen ein relevantes klinisches Problem. Neben einer besseren Aufklärung des Pathomechanismus der hämorrhagischen Diathese stellen klinische Fortbildungsprogramme, die die Aufmerksamkeit bez. der APL erhöhen und die Bildung regionaler Kompetenznetzwerke unter Involvierung von in Diagnostik und Therapie erfahrenen Hämatologen eine Möglichkeit dar, die immer noch hohe Frühtodesrate zu reduzieren.
Infektiologische Schnelltests in der Praxis und für zu Hause
Authors: Spinner Christoph , Müller Matthias , Lange Berit 
Published: February 2018

Was ist neu?
Schnelltests in der Infektiologie Patientennahe labormedizinische Verfahren („point of care testing“; POCT) spielen eine zunehmende Rolle für Entscheidungen im Praxisalltag. Neben den bereits etablierten Verfahren (z. B. Glukose oder Protein im Urin) spielen neuartige Einkassettenverfahren (Rapid diagnostic test – RDT) ebenso wie andere POC-Verfahren eine zunehmende Rolle. Eine zeitnahe und zuverlässige Diagnostik ermöglicht auch in der Infektiologie eine gezielte Therapieentscheidung. Perspektivisch können Testverfahren für Patienten, z. B. HIV-Heimtests, eine bedeutende Rolle spielen. Bei allen Verfahren bleiben technisch bedingte Limitationen der Sensitivität und Spezifität eine Herausforderung ebenso wie die Handhabung des Probenmaterials bezüglich prä- und postanalytischer Anforderungen. Weiterhin müssen alle Testergebnisse durch klinisch erfahrene Ärzte bewertet werden.
EEG-Anfallsmuster und Anfallssemiologie
Authors: Noachtar Soheyl 
Published: February 2018

ZusammenfassungDurch die digitale Technik hat sich das EEG-Video-Monitoring wesentlich verbessert und damit unser Wissen um die Assoziation typischer Anfallssemiologie mit typischen EEG-Anfallsmuster deutlich erweitert. Dies kommt einerseits der Differenzialdiagnose epileptischer Anfälle zu Gute und hat andererseits die Möglichkeiten der epilepsiechirurgischen Behandlung entscheidend verbessert.
Psoriasisarthritis – Update 2018
Authors: Märker-Hermann Elisabeth 
Published: February 2018

Was ist neu?
Inzidenz Bei Patienten mit bekannter kutaner Psoriasis liegt die jährliche Neuerkrankungsrate an Psoriasisarthritis (PsA) bei ca. 3 %. Unspezifische rheumatische Symptome können der PsA um Jahre vorausgehen.
Screening Fragebögen wie der GEPARD-Fragebogen sind für ein Screening auf PsA und eine frühe Diagnose der PsA gut geeignet.
Kardiovaskuläre und zerebrovaskuläre Morbidität Die kardiovaskuläre und zerebrovaskuläre Morbidität ist bei PsA-Patienten deutlich erhöht im Vergleich zur Allgemeinbevölkerung.
Therapie mit IL-17-Inhibitoren Neben dem bereits zugelassenen Secukinumab wird die therapeutische Option der IL-17-Inhibition bei PsA jetzt durch eine weitere Substanz, Ixekizumab, erweitert.
Therapie mit JAK-Inhibitoren Der Janus-Kinase (JAK)-Inhibitor Tofacitinib, der zur Behandlung der rheumatoiden Arthritis eingesetzt wird, erweist sich nach neuen Studien auch in der Therapie der PsA als wirksam.
Damaging de novo mutations diminish motor skills in children on the autism spectrum
Authors: Buja Andreas , Volfovsky Natalia , Krieger Abba M. , Lord Catherine , Lash Alex E. , Wigler Michael , Iossifov Ivan 
Published: February 2018

SignificanceGenetics is a major determining factor in autism spectrum disorder (ASD). To date, only the most severe class of de novo mutation, likely gene disruptive (LGD), has been correlated with IQ, a phenotypic characteristic associated with ASD, but not a core feature. A less severe class of de novo mutation, missense, while enriched in individuals with ASD, has been refractory to correlation with any ASD phenotypic feature. In this report, we demonstrate that de novo LGD and missense mutations scored by target gene vulnerability both show significant associations with diminished motor skills.
Selenzyme: enzyme selection tool for pathway design
Authors: Carbonell Pablo , Wong Jerry , Swainston Neil , Takano Eriko , Turner Nicholas J , Scrutton Nigel S , Kell Douglas B , Breitling Rainer , Faulon Jean-Loup 
Published: February 2018

AbstractSummarySynthetic biology applies the principles of engineering to biology in order to create biological functionalities not seen before in nature. One of the most exciting applications of synthetic biology is the design of new organisms with the ability to produce valuable chemicals including pharmaceuticals and biomaterials in a greener; sustainable fashion. Selecting the right enzymes to catalyze each reaction step in order to produce a desired target compound is, however, not trivial. Here, we present Selenzyme, a free online enzyme selection tool for metabolic pathway design. The user is guided through several decision steps in order to shortlist the best candidates for a given pathway step. The tool graphically presents key information about enzymes based on existing databases and tools such as: similarity of sequences and of catalyzed reactions; phylogenetic distance between source organism and intended host species; multiple alignment highlighting conserved regions, predicted catalytic site, and active regions and relevant properties such as predicted solubility and transmembrane regions. Selenzyme provides bespoke sequence selection for automated workflows in biofoundries.Availability and implementationThe tool is integrated as part of the pathway design stage into the design-build-test-learn SYNBIOCHEM pipeline. The Selenzyme web server is available at http://selenzyme.synbiochem.co.uk.Supplementary informationSupplementary data are available at Bioinformatics online.
Practice Patterns of Providers for the Management ofStaphylococcus aureus Bacteremia in Children: Results of an Emerging Infections Network Survey
Authors: Wood James B , Fricker Gregory P , Beekmann Susan E , Polgreen Philip , Buddy Creech C 
Published: February 2018

AbstractWe conducted a survey of pediatric infectious diseases providers in the Emerging Infections Network regarding the workup and treatment of children withStaphylococcus aureus bacteremia (SAB). We found significant practice variation in the management of children with SAB. These findings emphasize the need for further research to guide best practices.
Charged rotating BTZ black holes in noncommutative spaces and torsion gravity
Authors: Kawamoto Shoichi , Nagasaki Koichi , Wen Wen-Yu 
Published: February 2018

Abstract
We consider charged rotating BTZ black holes in noncommutative space using a Chern–Simons theory formulation of $(2+1)$-dimensional gravity. The noncommutativity between the radial and the angular variables is introduced through the Seiberg–Witten map for gauge fields, and the deformed geometry to the first order in the noncommutative parameter is derived. It is found that the deformation also induces nontrivial torsion, and Einstein–Cartan theory appears to be a suitable framework to investigate the equations of motion. Though the deformation is indeed nontrivial, the deformed and the original Einstein equations are found to be related by a rather simple coordinate transformation.
Prediction of Persistent Musculoskeletal Pain at 12 Months: A Secondary Analysis of the Optimal Screening for Prediction of Referral and Outcome (OSPRO) Validation Cohort Study
Authors: Beneciuk Jason M , Lentz Trevor A , He Ying , Wu Samuel S , George Steven Z 
Published: February 2018

AbstractBackgroundMusculoskeletal pain is a societal epidemic because it is highly prevalent and a leading contributor to disability; however, physical therapists are still challenged when predicting which patients are at high risk for persistent symptoms.ObjectiveThe objectives of this study were to identify patient characteristics predictive of persistent musculoskeletal pain 12 months following physical therapist care and to determine the influence of anatomical region.DesignThe design included a secondary analysis of a cohort study.MethodsParticipants ranged in age from 18 to 65 years, had a primary report of knee, shoulder, back, or neck pain, were receiving physical therapy, and were enrolled in the Orthopedic Physical Therapy Investigative Network (OPT-IN) Optimal Screening for Prediction of Referral and Outcome (OSPRO) validation cohort study. Candidate predictor variables included demographic and clinical characteristics, comorbidities, and OSPRO Review of Systems (OSPRO-ROS) and OSPRO Yellow Flag (OSPRO-YF) tool scores. Persistent musculoskeletal pain was assessed by self-report responses to questions on the duration of pain and activity limitation. Logistic regression was used for completed cases to identify predictors of persistent pain at 12 months in full and parsimonious models.ResultsFollow-up assessment at 12 months was performed for 63.4% of participants (279/440). Participants with persistent pain at 12 months (n = 101; 36.2%) had more comorbidities, higher numerical pain rating scale scores, and higher OSPRO-ROS and OSPRO-YF tool scores at baseline than those without persistent pain, and the findings were independent of anatomical region. The number of comorbidities (odds ratio [OR] range = 0.30–0.46), numerical pain rating scale scores (OR at baseline = 1.44–1.75; OR at 4 weeks = 1.37–1.39), and OSPRO-ROS (plus additional items) scores (OR = 1.33–1.54) were predictors in full and parsimonious models.LimitationsConvenience sampling was used, with a follow-up rate at 12 months (63.4%) that was lower than anticipated, and an operational definition for chronic low back pain was applied to persistent musculoskeletal pain in other body regions.ConclusionsThe OSPRO-ROS tool may be used to improve the prediction of persistent musculoskeletal pain at 12 months in conjunction with comorbidities and pain intensity (baseline and 4 weeks). These are potentially important findings because persistent pain was not commonly evaluated in previous screening studies; however, it is a relevant outcome in an era of front-line nonpharmacological pain management.
Asthma in inner city children: recent insights: United States
Authors: Dutmer Cullen M. , Kim Haejin , Searing Daniel A. , Zoratti Edward M. , Liu Andrew H. 
Published: February 2018

Purpose of review
Children living in US inner cities experience disparate burdens of asthma, especially in severity, impairment, exacerbations, and morbidity. Investigations seeking to better understand the factors and mechanisms underlying asthma prevalence, severity, and exacerbation in children living in these communities can lead to interventions that can narrow asthma disparities and potentially benefit all children with asthma. This update will focus on recent (i.e. late 2016–2017) advances in the understanding of asthma in US inner city children.

Recent findings
Studies published in the past year expand understanding of asthma prevalence, severity, exacerbation, and the outcomes of guidelines-based management of these at-risk children, including: asthma phenotypes in US inner city children that are severe and difficult-to-control; key environmental determinants and mechanisms underlying asthma severity and exacerbations (e.g. allergy-mediated exacerbation susceptibility to rhinovirus); the importance of schools as a place for provocative exposures (e.g. mouse allergen, nitrogen dioxide) as well as a place where asthma care and outcomes can be improved; and the development and validation of clinically useful indices for gauging asthma severity and predicting exacerbations.

Summary
These recent studies provide a trove of actionable findings that can improve asthma care and outcomes for these at-risk children.
Asthma exacerbation prediction: recent insights
Authors: Fleming Louise 
Published: February 2018

Purpose of reviewAsthma attacks are frequent in children with asthma and can lead to significant adverse outcomes including time off school, hospital admission and death. Identifying children at risk of an asthma attack affords the opportunity to prevent attacks and improve outcomes.Recent findingsClinical features, patient behaviours and characteristics, physiological factors, environmental data and biomarkers are all associated with asthma attacks and can be used in asthma exacerbation prediction models. Recent studies have better characterized children at risk of an attack: history of a severe exacerbation in the previous 12 months, poor adherence and current poor control are important features which should alert healthcare professionals to the need for remedial action. There is increasing interest in the use of biomarkers. A number of novel biomarkers, including patterns of volatile organic compounds in exhaled breath, show promise. Biomarkers are likely to be of greatest utility if measured frequently and combined with other measures. To date, most prediction models are based on epidemiological data and population-based risk. The use of digital technology affords the opportunity to collect large amounts of real-time data, including clinical and physiological measurements and combine these with environmental data to develop personal risk scores. These developments need to be matched by changes in clinical guidelines away from a focus on current asthma control and stepwise escalation in drug therapy towards inclusion of personal risk scores and tailored management strategies including nonpharmacological approaches.SummaryThere have been significant steps towards personalized prediction models of asthma attacks. The utility of such models needs to be tested in the ability not only to predict attacks but also to reduce them.
Precision medicine in the treatment of primary immunodeficiency diseases
Authors: Leiding Jennifer W. , Ballow Mark 
Published: February 2018

Purpose of the review
Since the 1990s with the advances in molecular biology, a number of genetic defects have been described. The International Union of Immunological Sciences has recently updated the classification of genetic defects associated with primary immune deficiencies that now number 354. With the ever-expanding list of new monogenic disorders and a better understanding of the immunobiology and function of these defective genes, new therapies have emerged particularly aimed at the autoimmune and inflammatory conditions that plague these patients.

Recent findings
Immune deficiencies associated with gain-of-function (GOF) mutations are a potential category for targeted therapies to control the GOF activities of the mutated gene. In addition to the increased susceptibility to infections these patients have autoimmune and inflammatory diseases that are difficult to control with conventional therapies. The dysregulated immune functions of the activated phospholipase-3-kinase δ syndrome, cytotoxic T lymphocyte-associated antigen-4 haploinsufficiency, lipopolysaccharide-responsive beige-like anchor deficiency, the GOF mutations of signal transducer and activator of transcription 1 and 3 immune deficiencies will be reviewed. The targeted therapies for each of these immune deficiencies using small molecule kinase inhibitors and fusion protein biologic modifiers will be described.

Summary
In this review, we explore the recent advances in precision medicine treatment of several primary immunodeficiency syndromes in which immune dysregulation is a key feature. Understanding the immunobiology associated with these GOF mutations has led to the use of biologic therapies to better control the associated autoimmune and inflammatory manifestations.
Randomized, Double-Blinded, Sham-Controlled, Split-Hand Trial Evaluating the Safety and Efficacy of Triamcinolone Acetate Injection After Calcium Hydroxylapatite Volume Restoration of the Dorsal Hand
Authors: Wu Douglas C. , Goldman Mitchel P. 
Published: February 2018

BACKGROUND
Calcium hydroxylapatite (CaHA) is currently the only FDA-approved soft-tissue filler indicated for augmentation of the dorsal hand. Although the treatment is generally safe and effective, adverse side effects such as swelling and edema postinjection are common and can sometimes be debilitating.

OBJECTIVE
In this study, the authors explore the utility of triamcinolone acetate coinjection with CaHA to the dorsal hands to mitigate adverse effects and improve patient experience.

PATIENTS AND METHODS
After obtaining informed consent, 20 subjects were enrolled in this double-blind, randomized, split-hand, sham-controlled clinical trial. Subject hands were randomized to receive either CaHA with triamcinolone acetate or CaHA with sham saline coinjection. Follow-up evaluations were performed by a blinded investigator at Days 7, 14, 30, 90, 180, 270, and 360 and consisted of the validated Merz Hand Grading Scale and assessments of erythema, edema, modules, bruising, and skin atrophy. Subjects also kept a daily diary for the first 30 days postinjection documenting bruising, itching, pain, redness, swelling, difficulty in performing activities with hands, and sensory alteration in hands.

RESULTS
There were no significant differences in treatment efficacy between the 2 groups. Post-treatment swelling was significantly reduced between Days 6 and 19 in the triamcinolone acetate coinjection group.

CONCLUSION
The addition of triamcinolone acetate coinjection with CaHA for dorsal hand augmentation did not negatively impact treatment efficacy but significantly reduced adverse side effects. This strategy represents a safe and effective way to improve patient experience and treatment tolerability.
Malnutrition, Growth Response and Metabolic Changes Within the First 24 Months After ART Initiation in HIV-infected Children Treated Before the Age of 2 Years in West Africa
Authors: Jesson Julie , Dahourou Désiré L. , Amorissani Folquet Madeleine , Malateste Karen , Yonaba Caroline , N’Gbeche Marie-Sylvie , Ouédraogo Sylvie , Mea-Assande Véronique , Amani-Bossé Clarisse , Blanche Stéphane , Timité-Konan Marguerite , Leroy Valériane 
Published: February 2018

Background:
There is limited information about malnutrition, growth evolution and metabolic changes among children initiated early on lopinavir-based antiretroviral therapy (ART) in Africa.

Methods:
HIV-1-infected children, age <2 years were initiated on ART, as part of the MONOD ANRS 12206 project, conducted in Burkina Faso and Côte d’Ivoire. Weight-for-age, height-for-age and weight-for-height Z scores defined malnutrition [Z score less than −2 standard deviations (SDs)] using World Health Organization growth references. Biologic data were collected every 6 months. Factors associated with baseline malnutrition were evaluated using multivariate logistic regression, and with growth evolution in the first 24 months on ART using linear mixed models.

Results:
Between 2011 and 2013, 161 children were enrolled: 64% were from Abidjan, 54% were girls. At ART initiation, median age was 13.7 months (interquartile range 7.7; 18.4), 52% were underweight (weight-for-age), 52% were stunted (height-for-age) and 36% were wasted (weight-for-height). Overall, baseline malnutrition was more likely for children living in Burkina Faso, with low birth weight, never breastfed and older age (12–24 months). Growth improved on ART, mainly within the first 6 months for weight, and was greater for the most severely malnourished children at baseline, but 8%–32% remained malnourished after 24 months. Over the 24-month period of ART, there was a significant increase of hypercholesterolemia and decrease of anemia and hypoalbuminemia.

Conclusions:
Prevalence of malnutrition was high before ART initiation. Even though growth improved on ART, some children remained malnourished even after 2 years of ART, highlighting the need for more active nutritional support.
Subtype-specific Clinical Presentation, Medical Treatment and Family Impact of Influenza in Children 1–5 Years of Age Treated in Outpatient Practices in Germany During Three Postpandemic Years, 2013–2015
Authors: Streng Andrea , Prifert Christiane , Weissbrich Benedikt , Sauerbrei Andreas , Schmidt-Ott Ruprecht , Liese Johannes G. 
Published: February 2018

Background:
Limited data on the influenza burden in pediatric outpatients are available, especially regarding direct comparison of the cocirculating (sub)types A(H1N1)pdm09, A(H3N2) and B.

Methods:
Children 1–5 years of age, unvaccinated against influenza and presenting with febrile acute respiratory infections (ARIs), were enrolled in 33 pediatric practices in Germany from 2013 to 2015 (January–May). Influenza was confirmed by multiplex polymerase chain reaction from pharyngeal swabs and (sub)typed.

Results:
In 805 children with ARI, influenza was the most frequently detected respiratory virus (n = 305; 37.9%). Of 217 influenza patients included, 122 (56.2%) were infected with A(H3N2), 56 (25.8%) with A(H1N1)pdm09 and 39 (18.0%) with B. Median age was 3.7 years [interquartile range (IQR), 2.1–4.8]; 11% had underlying conditions. Median fever duration was 4 days (IQR, 3–5), and the disease duration was 9 days (IQR, 7–12). Most frequent diagnoses were pharyngitis (26%), bronchitis (18%) and acute otitis media (10%). Children received mainly antipyretics (86%) and adrenergic nasal drops/spray (53%); 9% received antibiotics and 3% oseltamivir. Thirty-six percent required at least 1 additional practice visit; 1% was hospitalized. Median absences from childcare were 5 days (IQR, 3–7); parents lost 4 workdays (IQR, 2–6). Symptoms, severity and impact on the family were largely unrelated to (sub)type. However, patients with A(H1N1)pdm09 had fewer underlying conditions (P = 0.017), whereas patients with B more often had pharyngitis (P = 0.022), acute otitis media (P = 0.012) and stenosing laryngotracheitis (P = 0.007).

Conclusions:
Influenza was the most frequently detected viral pathogen in outpatient children with febrile, mostly uncomplicated ARI. In this setting, clinical manifestations and severity were similar across the (sub)types prevalent during the postpandemic seasons.