bluuebunny/crossref_metadata_2025_split huggingface dataset:
Non‐invasive cell‐free DNA prenatal screening for trisomy 21 as part of primary screening strategy in twin pregnancy
Authors: Claudel N. , Barrois M. , Vivanti A. J. , Rosenblatt J. , Salomon L. J. , Jouannic J.‐M. , Picone O. , Carbillon L. , Vialard F. , Launay E. , Tsatsaris V. , Curis E. , El Khattabi L. ,   APHP non‐invasive prenatal screening group
Published: July 2023

ABSTRACTObjectivesThe performance of non‐invasive prenatal screening using cell‐free DNA testing of maternal blood in twin pregnancy is underevaluated, while serum marker‐based strategies yield poor results. This study aimed to assess the performance of non‐invasive prenatal screening for trisomy 21 in twin pregnancy as a first‐tier test. Secondary objectives were to assess its failure rate and factors associated with failure.MethodsThis retrospective cohort study included twin pregnancies in which non‐invasive prenatal screening using cell‐free DNA was performed as the primary screening strategy between May 2017 and October 2019. We used the NIPT VeriSeq® test for in‐vitro diagnosis and set a fetal fraction cut‐off of 4% for monochorionic pregnancies and 8% for dichorionic ones. Clinical data and pregnancy outcome were collected from physicians or midwives via a questionnaire or were retrieved directly on‐site. We calculated the performance of non‐invasive cell‐free DNA screening for trisomy 21, analyzed its failure rate and assessed potentially associated factors.ResultsAmong 1885 twin pregnancies with follow‐up, there were six (0.32%) confirmed cases of trisomy 21. The sensitivity of non‐invasive prenatal screening for trisomy 21 was 100% (95% CI, 54.1–100%) and the false‐positive rate was 0.23% (95% CI, 0.06–0.59%). The primary failure rate was 4.6%, with 4.0% being due to insufficient fetal fraction. A successful result was obtained for 65.4% of women who underwent a new blood draw, reducing the overall failure rate to 2.8%. Maternal body mass index, gestational age at screening as well as chorionicity were significantly associated with the risk of failure.ConclusionThis study provides further evidence of the high performance, at an extremely low false‐positive rate, of non‐invasive prenatal screening in twins as part of a primary screening strategy for trisomy 21. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Equine tendon mechanical behaviour: Prospects for repair and regeneration applications
Authors: Shojaee Asiyeh 
Published: July 2023

AbstractTendons are dense connective tissues that play an important role in the biomechanical function of the musculoskeletal system. The mechanical forces have been implicated in every aspect of tendon biology. Tendon injuries are frequently occurring and their response to treatments is often unsatisfactory. A better understanding of tendon biomechanics and mechanobiology can help develop treatment options to improve clinical outcomes. Recently, tendon tissue engineering has gained more attention as an alternative treatment due to its potential to overcome the limitations of current treatments. This review first provides a summary of tendon mechanical properties, focusing on recent findings of tendon mechanobiological responses. In the next step, we highlight the biomechanical parameters of equine energy‐storing and positional tendons. The final section is devoted to how mechanical loading contributes to tenogenic differentiation using bioreactor systems. This study may help develop novel strategies for tendon injury prevention or accelerate and improve tendon healing.
Menschen mit Migrationsgeschichte in der COVID-19-Pandemie
Authors: Koschollek Carmen , Bartig Susanne , Müters Stephan , Goßner Laura , Bug Marleen , Goerigk Lena , Hövener Claudia , Kajikhina Katja 
Published: July 2023

Zusammenfassung
Einleitung
Nicht nur Risiken für eine SARS-CoV-2-Infektion und schwere bis tödliche Verläufe sind sozial ungleich verteilt, sondern auch Arbeitsplatz- und Einkommensverluste infolge der Eindämmungsmaßnahmen. Für Menschen mit Migrationsgeschichte zeigen sich ebenfalls erhöhte Risiken, von solchen indirekten sozioökonomischen Pandemiefolgen betroffen zu sein. Ziel dieses Beitrages ist es, Zusammenhänge zwischen indirekten sozioökonomischen Pandemiefolgen und der Lebenszufriedenheit von Menschen mit ausgewählten Staatsangehörigkeiten zu untersuchen.

Methoden
Analysiert wurden Daten der multimodalen, mehrsprachigen Befragungsstudie Gesundheit in Deutschland aktuell: Fokus (GEDA Fokus), die von 11/2021 bis 05/2022 unter Menschen mit italienischer, kroatischer, polnischer, syrischer oder türkischer Staatsangehörigkeit deutschlandweit durchgeführt wurde. In multivariablen Poisson-Regressionen werden Zusammenhänge zwischen Geschlecht, Alter, Bildung, Einkommen, Deutschkenntnissen sowie Arbeitsplatz- und Einkommensverlusten und der Lebenszufriedenheit untersucht.

Ergebnisse
Von 4114 Teilnehmenden berichten 64,4 % eine hohe Lebenszufriedenheit. Während ein hohes Einkommen positiv mit einer hohen Lebenszufriedenheit assoziiert ist, zeigen sich negative Assoziationen bei selbst als schlecht eingeschätzten Deutschkenntnissen sowie bei mit hoher Wahrscheinlichkeit erwarteten bzw. bereits eingetretenen Arbeitsplatz- und Einkommensverlusten.

Diskussion
Der Beitrag zeigt, dass die Lebenszufriedenheit, die für eine Reihe gesundheitlicher Outcomes relevant ist, bei denjenigen geringer ist, die von Arbeitsplatz- und Einkommensverlusten betroffen sind. Es gilt, strukturelle Ursachen sozioökonomischer Benachteiligung abzubauen, um gesundheitliche Ungleichheiten zu adressieren und für künftige Krisen besser gewappnet zu sein.
A measure theoretic paradox from a continuous colouring rule
Authors: Simon Robert , Tomkowicz Grzegorz 
Published: July 2023

AbstractGiven a probability space $$(X, {{\mathcal {B}}}, m)$$

(
X
,
B
,
m
)

, measure preserving transformations $$g_1, \dots , g_k$$

g
1

,
⋯
,

g
k

of X, and a colour set C, a colouring rule is a way to colour the space with C such that the colours allowed for a point x are determined by that point’s location in X and the colours of the finitely many $$g_1 (x), \dots , g_k(x)$$

g
1

(
x
)

,
⋯
,

g
k

(
x
)

(called descendants). We represent a colouring rule as a correspondence F defined on $$X\times C^k$$

X
×

C
k

with values in C. A function $$f: X\rightarrow C$$

f
:
X
→
C

satisfies the rule at x if $$f(x) \in F( x, f(g_1 x), \dots , f(g_k x))$$

f

(
x
)

∈
F
(
x
,
f

(

g
1

x
)

,
⋯
,
f

(

g
k

x
)

)

. A colouring rule is paradoxical if it can be satisfied in some way almost everywhere with respect to m, but not in any way that is measurable with respect to a finitely additive measure that extends the probability measure m defined on $${{\mathcal {B}}}$$
B
and for which the finitely many transformations $$g_1, \dots , g_k$$

g
1

,
⋯
,

g
k

remain measure preserving. We show that a colouring rule can be paradoxical when the $$g_1, \dots , g_k$$

g
1

,
⋯
,

g
k

are members of a semi-group G, the probability space X and the colour set C are compact sets, C is convex and finite dimensional, and the colouring rule says if $$c: X\rightarrow C$$

c
:
X
→
C

is the colouring function then the colour c(x) must lie (m a.e.) in $$F(x, c(g_1(x) ), \dots , c(g_k(x)))$$

F
(
x
,
c

(

g
1

(
x
)

)

,
⋯
,
c

(

g
k

(
x
)

)

)

for a non-empty upper-semi-continuous convex-valued correspondence F. Furthermore we show that this colouring rule has a stability property—there is a positive $$\epsilon $$
ϵ
small enough so that if the expected deviation from the rule does not exceed $$\epsilon $$
ϵ
then the colouring cannot be measurable in the same finitely additive way. As a consequence, there is a two-person Bayesian game with equilibria, but all $$\epsilon $$
ϵ
-equilibria for small enough $$\epsilon $$
ϵ
are not measurable according to any finitely additive measure that respects the information structure of the game.
Anti-RANKL Therapy Prevents Glucocorticoid-Induced Bone Loss and Promotes Muscle Function in a Mouse Model of Duchenne Muscular Dystrophy
Authors: Jayash Soher Nagi , Hamoudi Dounia , Stephen Louise A. , Argaw Anteneh , Huesa Carmen , Joseph Shuko , Wong Sze Choong , Frenette Jérôme , Farquharson Colin 
Published: July 2023

AbstractBisphosphonates prevent bone loss in glucocorticoid (GC)-treated boys with Duchenne muscular dystrophy (DMD) and are recommended as standard of care. Targeting receptor activator of nuclear factor kappa-B ligand (RANKL) may have advantages in DMD by ameliorating dystrophic skeletal muscle function in addition to their bone anti-resorptive properties. However, the potential effects of anti-RANKL treatment upon discontinuation in GC-induced animal models of DMD are unknown and need further investigation prior to exploration in the clinical research setting. In the first study, the effects of anti-RANKL and deflazacort (DFZ) on dystrophic skeletal muscle function and bone microstructure were assessed inmdxmice treated with DFZ or anti-RANKL, or both for 8 weeks. Anti-RANKL and DFZ improved grip force performance ofmdxmice but an additive effect was not noted. However, anti-RANKL but not DFZ improved ex vivo contractile properties of dystrophic muscles. This functional improvement was associated with a reduction in muscle damage and fibrosis, and inflammatory cell number. Anti-RANKL treatment, with or without DFZ, also improved trabecular bone structure ofmdxmice. In a second study, intravenous zoledronate (Zol) administration (1 or 2 doses) following 2 months of discontinuation of anti-RANKL treatment was mostly required to record an improvement in bone microarchitecture and biomechanical properties in DFZ-treatedmdxmice. In conclusion, the ability of anti-RANKL therapy to restore muscle function has profound implications for DMD patients as it offers the possibility of improving skeletal muscle function without the steroid-related skeletal side effects.
Significance of endolymphatic sac surgery with and/or without simultaneous cochlea implant surgery in respect of vertigo control and speech perception in patients with Menière’s disease
Authors: Spiegel Jennifer L. , Weiss Bernhard G. , Mueller Joachim , Hempel John-Martin , Rader Tobias , Bertlich Mattis , Canis Martin , Ihler Friedrich 
Published: July 2023

Abstract
Purpose
The focus on treating patients with Menière’s Disease (MD) lies on the reduction of vertigo attacks and the preservation of sensory function. Endolympathic hydrops is considered as an epiphenomenon in MD, which can potentially be altered by endolymphatic sac surgery (ESS). Purpose of the study was to investigate the influences on vertigo control through manipulation of the perilymphatic system with or without ESS.

Methods
Retrospective data analysis of 86 consecutive patients with MD according to current diagnostic criteria after endolymphatic sac surgery alone (ESSalone; n = 45), cochlear implantation (CI) alone (CIalone; n = 12), and ESS with CI (ESS + CI; n = 29), treated at a tertiary referral center. Main Outcome Measures: vertigo control, speech perception pre- and postoperatively.

Results
Gender, side, and preoperative treatment were similar in all groups. Age was younger in the ESSalone-group with 56.2 ± 13.0 years (CIalone = 64.2 ± 11.4 years; ESS + CI = 63.1 ± 9.7 years). Definitive MD was present in all the CIalone, in 79.3% of the ESS + CI and in 59.6% of the ESSalone-patients. Likewise, vertigo control rate was 100% in the CIalone, 89.7% in the ESS + CI and 66.0% in the ESSalone-group.

Conclusions
Vertigo control was improved in all three groups, however, superior in groups treated with CI, potentially contributed by the manipulation of both the endo- and perilymphatic systems. A more systematic characterization of the patients with larger case numbers and documentation of follow up data would be needed to evaluate a clinical effect more properly.
A framework to simplify paediatric syncope diagnosis
Authors: Stewart Julian M. , van Dijk J. Gert , Balaji Seshadri , Sutton Richard 
Published: July 2023

AbstractThis paper aims to improve the diagnosis of syncope and transient loss of consciousness (TLOC) in children. Diagnostic problems stem, first, from some causes spanning various disciplines, e.g. cardiology, neurology and psychiatry, while the most common cause, vasovagal syncope, is not embraced by any specialty. Second, clinical variability is huge with overlapping signs and symptoms. Third, the approach to TLOC/syncope of the European Society of Cardiology (ESC) is underused in childcare. We explain the ESC guidelines using an additional paediatric literature review. Classification of TLOC and syncope is hierarchic and based on history taking. Loss of consciousness (LOC) is defined using three features: abnormal motor control including falling, reduced responsiveness and amnesia. Adding a < 5 min duration and spontaneous recovery defines TLOC. TLOC simplifies diagnosis by excluding long LOC (e.g. some trauma, intoxications and hypoglycaemia) and focussing on syncope, tonic–clonic seizures and functional TLOC. Syncope, i.e. TLOC due to cerebral hypoperfusion, is divided into reflex syncope (mostly vasovagal), orthostatic hypotension (mostly initial orthostatic hypotension in adolescents) and cardiac syncope (arrhythmias and structural cardiac disorders). The initial investigation comprises history taking, physical examination and ECG; the value of orthostatic blood pressure measurement is unproven in children but probably low. When this fails to yield a diagnosis, cardiac risk factors are assessed; important clues are supine syncope, syncope during exercise, early death in relatives and ECG abnormalities. Conclusions: In adults, the application of the ESC guidelines reduced the number of absent diagnoses and costs; we hope this also holds for children.What is Known:• Syncope and its mimics are very common in childhood, as they are at other ages.• Syncope and its mimics provide considerable diagnostic challenges.What is New:• Application of the hierarchic framework of transient loss of consciousness (TLOC) simplifies diagnosis.• The framework stresses history-taking to diagnose common conditions while keeping an eye on cardiac danger signs.
Ocular manifestations of congenital anomalies of the kidney and urinary tract (CAKUT)
Authors: Virth James , Mack Heather G. , Colville Deb , Crockett Emma , Savige Judy 
Published: July 2023

AbstractCongenital anomalies of the kidney and urinary tract (CAKUT) are among the most common birth defects worldwide and a major cause of kidney failure in children. Extra-renal manifestations are also common. This study reviewed diseases associated with the Genomics England CAKUT-associated gene panel for ocular anomalies. In addition, each gene was examined for expression in the human retina and an ocular phenotype in mouse models using the Human Protein Atlas and Mouse Genome Informatics databases, respectively. Thirty-four (54%) of the 63 CAKUT-associated genes (55 ‘green’ and 8 ‘amber’) had a reported ocular phenotype. Five of the 6 most common CAKUT-associated genes (PAX2, EYA1, SALL1, GATA3, PBX1) that represent 30% of all diagnoses had ocular features. The ocular abnormalities found with most CAKUT-associated genes and with five of the six commonest were coloboma, microphthalmia, optic disc anomalies, refraction errors (astigmatism, myopia, and hypermetropia), and cataract. Seven of the CAKUT-associated genes studied (11%) had no reported ocular features but were expressed in the human retina or had an ocular phenotype in a mouse model, which suggested further possibly-unrecognised abnormalities. About one third of CAKUT-associated genes (18, 29%) had no ocular associations and were not expressed in the retina, and the corresponding mouse models had no ocular phenotype. Ocular abnormalities in individuals with CAKUT suggest a genetic basis for the disease and sometimes indicate the affected gene. Individuals with CAKUT often have ocular abnormalities and may require an ophthalmic review, monitoring, and treatment to preserve vision.
Dual-amplification system based on CRISPR-Cas12a and horseradish peroxidase-tethered magnetic microspheres for colorimetric detection of microcystin-LR
Authors: Wu Pian , Zhang Man , Xue Xiaoting , Ding Ping , Ye Lei 
Published: July 2023

AbstractA novel dual-amplification system based on CRISPR-Cas12a and horseradish peroxidase (HRP) was developed for colorimetric determination of MC-LR. This dual-amplification was accomplished by combining the nuclease activity of CRISPR-Cas12a with the redox activity of HRP. HRP linked to magnetic beads through an ssDNA (MB-ssDNA-HRP) was used to induce a color change of the 3,3′,5,5′-tetramethylbenzidine (TMB)-H2O2 chromogenic substrate solution. Specific binding of MC-LR with its aptamer initiated the release of a complementary DNA (cDNA), which was designed to activate the trans-cleavage activity of CRISPR-Cas12a. Upon activation, Cas12a cut the ssDNA linker in MB-ssDNA-HRP, causing a reduction of HRP on the magnetic beads. Consequently, the UV–Vis absorbance of the HRP-catalyzed reaction was decreased. The dual-signal amplification facilitated by CRISPR-Cas12a and HRP enabled the colorimetric detection of MC-LR in the range 0.01 to 50 ng·mL−1 with a limit of detection (LOD) of 4.53 pg·mL−1. The practicability of the developed colorimetric method was demonstrated by detecting different levels of MC-LR in spiked real water samples. The recoveries ranged from 86.2 to 118.5% and the relative standard deviation (RSD) was 8.4 to 17.6%. This work provides new inspiration for the construction of effective signal amplification platforms and demonstrates a simple and user-friendly colorimetric method for determination of trace MC-LR.
Graphical Abstract
Mapping an information design game into an all-pay auction
Authors: Muratov Oleg 
Published: July 2023

AbstractI formally establish the existence of a mapping between a class of information design games with multiple senders and a class of all-pay auctions. I fully characterize this mapping and show how to use it to find equilibria in the information design game. The mapping allows for a straightforward comparative statics analysis of equilibria in the latter class of games. I use it to study the effect of the tie-breaking rule on the distributions of posteriors and the receiver’s payoff.
Osteomyelitis caused by Streptococcus intermedius in immunocompetent adults — a case report and systematic literature review
Authors: Brunink Elyne M. , Hoogervorst Lotje A. , Steentjes Koen , Broekhuis Demien , de Boer Mark G. J. 
Published: July 2023

AbstractHematogenous osteomyelitis caused by Streptococcus intermedius is rare, particularly in immunocompetent adults. The aim of this paper is to provide an overview of the clinical presentation, prognosis as well as treatment of this disease, with the focus on immunocompetent adults. Six medical literature libraries were searched to identify studies reporting on Streptococcus intermedius induced hematogenous osteomyelitis in immunocompetent adults. In addition, we presented a case of a 44-year-old man from our institution that is illustrative for this disease. Four case reports describing four patients were identified by this systematic literature review. Hence, the data of five patients (including our case) were assessed. The most common presenting symptom was localised pain, followed by fever. Portal entries were found in two patients (general periodontitis and necrotic dentition). The localisations of osteomyelitis were diverse: femoral (two patients), lumbar spine (two patients), and the iliac bone (one patient). Treatment strategies varied strongly, but antibiotics (penicillins) were administered in each case, and two patients underwent surgical debridement. Follow-up ranged from 2 weeks to more than 6 months; one patient died from septic shock. Only a very limited number of immunocompetent adults with Streptococcus intermedius induced hematogenous osteomyelitis have been described. Based on the available data, we summarised the clinical presentation, prognosis as well as treatment of hematogenous osteomyelitis caused by Streptococcus intermedius in this patient population.
Enhanced removal of perfluorooctanoic acid with sequential photocatalysis and fungal treatment
Authors: Khan Mohd Faheem , Paul Guin Jhimli , Thampi Ravindranathan K. , Sullivan James A. , Murphy Cormac D. 
Published: July 2023

Abstract
In this paper, we report the degradation of perfluorooctanoic acid (PFOA), which is a persistent contaminant in the environment that can severely impact human health, by exposing it to a photocatalyst, bismuth oxyiodide (BiOI), containing both Bi4O5I2 and Bi5O7I phases and a fungal biocatalyst (Cunninghamella elegans). Individually, the photocatalyst (after 3 h) and biocatalyst (after 48 h) degraded 35–40% of 100 ppm PFOA with 20–30% defluorination. There was a marked improvement in the degree of degradation (90%) and defluorination (60%) when PFOA was first photocatalytically treated, then exposed to the fungus. GC- and LC–MS analysis identified the products formed by the different treatments. Photocatalytic degradation of PFOA yielded short-chain perfluorocarboxylic acids, whereas fungal degradation yielded mainly 5:3 fluorotelomer carboxylic acid, which is a known inhibitor of cytochrome P450-catalysed degradation of PFAS in C. elegans. The combined treatment likely resulted in greater degradation because photocatalysis reduced the PFOA concentration without generating the inhibitory 5:3 fluorotelomer carboxylic acid, enabling the fungus to remove most of the remaining substrate. In addition, new fluorometabolites were identified that shed light on the initial catabolic steps involved in PFOA biodegradation.
Ranking Research and Development Needs of Silvicultural Operations for a Plantation Forestry Cooperative
Authors: Sibiya Zimbili Bonisiwe , Häggström Carola , Talbot Bruce 
Published: July 2023

AbstractForest Owners Organizations can help small- and medium-scale private landowners stay competitive by conducting and sharing research and development (R&D) activities. This study evaluated R&D needs for silvicultural operations to inform an R&D strategy for the cooperative. Individual and group priorities were collected using the Analytical Hierarchy Process via a web survey and web meeting. Consensus in priorities was followed by an assessment of the cooperative's capacity to carry out in-house research. Two regional managers, eight plantation managers and one R&D/Technology manager participated in one or more stages of the process. Participants ranked most silvicultural operations similarly. However, the variation was largest for harvest residue, seedling, and stump management. Minor regional differences were found but both regions (south and north) had “very high” group consensus indicators (86.2% and 89%, respectively). The group decision ranked R&D in harvest residue management as the highest priority, followed by soil preparation and planting methods. The cooperative's strongest capacity for in-house research was in the execution of the experimental design to address the research questions (implementation). The weakest research capacity was found in terms of harvest residue, seedling, and stump management. Hence, the cooperative is dependent on research institutions. These findings can be used to inform and align the cooperative's R&D strategy, investments, and their research collaborations.