bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic variants with discordant classifications: An assessment of genetic counselor attitudes and practices
Authors: Lahiri Sayoni , Reys Brian , Wunder Julia , Pirzadeh‐Miller Sara 
Published: August 2022

AbstractDiscordant variant classifications (DVCs) can impact patient care and pose challenges for clinicians. A survey‐based study was conducted to examine genetic counselor (GC) attitudes and practices related to DVCs. Most GCs (202/229, 88%) in the study provide direct patient care across clinical specialties; review patients' genetic test results to determine if reported genetic variants have DVCs (176/202, 88%); and inform patients of known DVCs that impact medical management (165/202, 82%). DVC review, which takes 41 min (range: 5–240) on average per week, is typically prompted by the identification of a variant of uncertain significance (VUS) (160/176, 90%) and is primarily conducted using public databases (176/176, 100%). While most GCs felt it would not be ethical to knowingly provide different medical management recommendations to patients with the same genetic variant (152/229, 66%), they also stated they would rely on the variant classification on the test report (141/229, 61%) and/or the patient's personal/family history (188/229, 82%) to determine which classification to follow if a DVC is identified. Both factors are patient‐specific and, inherently, could lead to differing recommendations. When posed with a hypothetical scenario in which two patients have the same genetic variant, but test reports show a DVC (pathogenic vs VUS), most GCs (179/229, 78.2%) stated they would make the same recommendation for both patients regardless of management guidelines. One‐third (52/179, 29.1%) cited patient‐specific factors, such as personal/family history, would impact their recommendations. Disagreements about whether the pathogenic or VUS classification should be used to make medical management recommendations were noted. Differing practices and opinions on how to manage patients with DVCs, as well as the fact that most GCs (209/229, 91.3%) have consulted with colleagues on this matter, highlight the need for more professional guidance to ensure equitable patient care.
Strengthened surveillance revealed a rapid disappearance of the poliovirus serotype 2 vaccine strain in Madagascar after its removal from the oral polio vaccine
Authors: Razafindratsimandresy Richter , Joffret Marie‐Line , Raharinantoanina Jonhson , Polston Patsy , Andriamamonjy Nelson S. , Razanajatovo Iony Manitra , Diop Ousmane M. , Delpeyroux Francis , Héraud Jean‐Michel , Bessaud Maël 
Published: August 2022

AbstractTo assess circulation of the Sabin 2 poliovirus vaccine strain in Madagascar after its withdrawal from the oral polio vaccine in April 2016, a reinforced poliovirus surveillance was implemented in three regions of Madagascar from January 2016 to December 2017. Environmental samples and stool specimens from healthy children were screened using the Global Polio Laboratory Network algorithm to detect the presence of polioviruses. Detected polioviruses were molecularly typed and their genomes fully sequenced. Polioviruses were detected during all but 4 months of the study period. All isolates were related to the vaccine strains and no wild poliovirus was detected. The majority of isolates belong to the serotype 3. The last detection of Sabin 2 occurred in July 2016, 3 months after its withdrawal. No vaccine‐derived poliovirus of any serotype was observed during the study. Only few poliovirus isolates contained sequences from non‐polio origin. The genetic characterization of all the poliovirus isolates did not identify isolates that were highly divergent compared to the vaccine strains. This observation is in favor of a good vaccine coverage that efficiently prevented long‐lasting transmission chains between unvaccinated persons. This study underlines that high commitment in the fight against polioviruses can succeed in stopping their circulation even in countries where poor sanitation remains a hurdle.
Climatology of heatwaves in South America identified through ERA5 reanalysis data
Authors: de Araújo Glícia Ruth Garcia , Frassoni Ariane , Sapucci Luiz Fernando , Bitencourt Daniel , de Brito Neto Francisco Agustinho 
Published: August 2022

AbstractThe rise in the Earth's global average surface temperature and the increase of extreme weather events have been the focus of scientific discussion in the last decades. Extreme heat combined with other environmental extremes, like high concentrations of air pollution, may induce health problems—especially in socioeconomically vulnerable populations. Spring in South America requires particular attention due to its association with hot, dry weather and air pollution in most parts of the continent. This paper intends to better comprehend the behaviour of heatwaves during the austral winter–spring transition. We propose identifying the spatial coverage, frequency and intensity of heatwaves in homogeneous areas of maximum air temperature near the surface (Tmax). We employed cluster analyses during the period between July and October for 41 years (1979–2019) through the ERA5 reanalysis. Homogeneous Tmax areas in South America were defined by cluster analyses that indicated three homogeneous Tmax regions, as follows: a larger area of the continent including the tropical region (Area 1), eastern and southeastern South America (Area 2) and southernmost and steep areas in the Andes (Area 3). The heatwave events identified via ERA5 reanalysis were classified according to their intensity (intense, moderate and weak events). Spatial frequency and trend analyses were also performed regarding the intensity and persistence of heatwave episodes. These methods allowed the identification of the behavioural aspect of heatwaves spanning the last four decades. The Mann–Kendall statistical test (MK) was applied in order to analyse the heatwave trend with a statistical significance level of 5%. A total of 191 heatwave episodes were identified. Of this total, 47.12, 35.60 and 17.28% of episodes occurred in Areas 2, 3 and 1, respectively. The hotter area extending from northeast to southwest in central South America stood out by its largest frequencies of intense heatwave episodes. Across the continent there was a significant increase in the intensity and persistence of heatwaves over the period of 1979 through to 2019.
Better living through chemistry? A randomized, double‐blind controlled study evaluating the efficacy of plaque control and gingival health impacts of a novel stannous fluoride‐containing gel
Authors: Takesh Thair , Goshtasbi Arezou , Lin Kairong , Yang Susan Meishan , Wink Cherie , Geisinger Maria L. , Wilder‐Smith Petra 
Published: August 2022

AbstractBackgroundGingivitis is a nonspecific inflammatory lesion in response to the accumulation of oral biofilm and is a necessary precursor to periodontitis. Enhanced oral hygiene practices are necessary to reverse gingivitis and a dentifrice that could provide significant clinical reductions in plaque accumulation and gingival inflammation would be desirable to treat gingivitis and potentially prevent progression to periodontitis. This clinical study aimed to investigate the effect of a novel stannous fluoride‐containing dentifrice with 2.6% ethylenediamine tetra‐acetic acid (EDTA) as an antitartar agent to reduce Plaque Index (PI) and Gingival Index over a 3‐month study period.MethodsThis double‐blind, randomized controlled clinical study evaluated plaque, gingival inflammation, and sulcular bleeding in patients using either a novel dental gel containing 0.454% stannous fluoride and 2.6% EDTA or a dentifrice with 0.24% sodium fluoride. Sixty subjects participated over a 3‐month period. Co‐primary endpoints were improvements in PI and Modified Gingival Index (mGI) from baseline values. No professional cleaning was performed during the study period.ResultsAll subjects in the study demonstrated statistically significant improvements in all measures of oral hygiene over the 3‐month study period. Subjects using the novel dental gel showed statistically significantly greater reductions in PI (ΔPI) [(−1.43 ± 0.34; −0.49 ± 0.13) (p < 0.00001)], mGI (ΔmGI) [(−1.11 ± 0.22; −0.16 ± 0.12) (p < 0.00001)], and modified sulcular bleeding index (ΔmSBI) [(−1.15 ± 0.18; −0.20 ± 0.07) (p < 0.00001)].ConclusionsThe novel dental gel demonstrated significant improvements in clinical parameters associated with gingivitis compared to a commercially available sodium fluoride dentifrice.
Late Pleistocene montane forest fire return interval estimates from Mount Kenya
Authors: Courtney Mustaphi Colin J. , Rucina Stephen M. , Marchant Rob 
Published: August 2022

AbstractPast forest fire events and fire frequencies are reconstructed with sediment–charcoal records at lake catchment spatial scales. Few quantitative palaeofire analyses exist in tropical montane forests, where fire return intervals are long (decadal and centennial scales) because of the infrequency of fire weather and fuel conditions. Fire return intervals are a key characteristic of fire regimes and changing fire frequencies rapidly alter land cover compositions and vegetation structure. Charcoal records from small lakes with relatively small catchments covered with dense forest provide an opportunity to reconstruct low‐frequency, high‐severity fires through a time series decomposition approach to identify charcoal peaks above a varying background rate as a proxy for palaeofire events. The sediment core from Rumuiku wetland on Mount Kenya, equatorial eastern Africa, accumulated a nearly linear age–depth model and provided a high temporal resolution (10 years cm–1) sieved charcoal count record (>125 µm). Pollen analysis showed a significant change in montane forest assemblage occurred at 21 200 cal abpfrom a montane forest with abundantPodocarpusandJuniperusto a forest with more abundantHagenia. This change in forest altered the vegetation composition and structure with concomitant changes to the fire regime. Forest biomass in theHageniaforests decreased and it is likely that fire activity qualitatively changed toward lower intensity and lower severity fires. The quantitative fire event reconstruction focuses on the interval from 27 000 to 16 500 cal a bp and the older montane forest that experienced higher severity fires from 27 000 to 21 200 cal abp,which reconstructed a temporally heterogeneous fire regime with fire return intervals that ranged from 30–430 years and a mean of 120 years (median 160 years) in the catchment. These are the first estimates of fire return intervals of mountain forests in eastern Africa. We then explore the potential for further comparative research and incremental research contributions to improve quantitative and qualitative palaeofire research in tropical forest ecosystems. We discuss the potential to use these types of data for characterizing variables of fire regimes prior to ostensibly significant modification by anthropogenic activity as well as during the recent past as human land use pressures increased within Afromontane forests.
3D Bioprinted Hydroxyapatite or Graphene Oxide Containing Nanocellulose‐Based Scaffolds for Bone Regeneration
Authors: Lafuente‐Merchan Markel , Ruiz‐Alonso Sandra , García‐Villén Fátima , Zabala Alaitz , de Retana Ana M. Ochoa , Gallego Idoia , Saenz‐del‐Burgo Laura , Pedraz Jose Luis 
Published: August 2022

AbstractBone tissue is usually damaged after big traumas, tumors, and increasing aging‐related diseases such as osteoporosis and osteoarthritis. Current treatments are based on implanting grafts, which are shown to have several inconveniences. In this regard, tissue engineering through the 3D bioprinting technique has arisen to manufacture structures that would be a feasible therapeutic option for bone regenerative medicine. In this study, nanocellulose–alginate (NC–Alg)‐based bioink is improved by adding two different inorganic components such as hydroxyapatite (HAP) and graphene oxide (GO). First, ink rheological properties and biocompatibility are evaluated as well as the influence of the sterilization process on them. Then, scaffolds are characterized. Finally, biological studies of embedded murine D1 mesenchymal stem cells engineered to secrete erythropoietin are performed. Results show that the addition of both HAP and GO prevents NC–Alg ink from viscosity lost in the sterilization process. However, GO is reduced due to short cycle autoclave sterilization, making it incompatible with this ink. In addition, HAP and GO have different influences on scaffold architecture and surface as well as in swelling capacity. Scaffolds mechanics, as well as cell viability and functionality, are promoted by both elements addition. Additionally, GO demonstrates an enhanced bone differentiation capacity.
Materials Requirements in Fused Filament Fabrication: A Framework for the Design of Next‐Generation 3D Printable Thermoplastics and Composites
Authors: Sola Antonella 
Published: August 2022

AbstractFused filament fabrication (FFF), also known as fused deposition modeling, is the leading technology for polymer‐based additive manufacturing. The simplicity, along with the cleanness, the affordability, and the multi‐material capability, are some of the main advantages that have prompted this success. Nonetheless, the uptake of FFF in industry is hampered by the limited functionality of commercial filaments, that are often based on plain thermoplastics. The future growth of FFF into new markets needs a significant improvement of available materials. However, materials requirements in FFF are complicated and often mutually conflicting. Whereas heuristic approaches to materials design imply significant costs in terms of time, energy, and materials, a critical survey of the main requirements that a new material should fulfill in order to be printable and suitable for commercial adoption is still missing. In order to bridge this gap, the present paper analyzes the workflow from filament production to end‐of‐life disposal of printed objects, and, for each step, brings to light the governing materials properties. Wherever possible, practical guidelines are given on acceptable values. Existing lacks of knowledge are identified to direct future studies. The ultimate goal is to provide a road map to making materials development in FFF more efficient.
Nanomedicine and versatile therapies for cancer treatment
Authors: Shukla Aparna , Maiti Pralay 
Published: August 2022

AbstractThe higher prevalence of cancer is related to high rates of mortality and morbidity worldwide. By virtue of the properties of matter at the nanoscale, nanomedicine is proven to be a powerful tool to develop innovative drug carriers with greater efficacies and fewer side effects than conventional therapies. In this review, different nanocarriers for controlled drug release and their routes of administration have been discussed in detail, especially for cancer treatment. Special emphasis has been given on the design of drug delivery vehicles for sustained release and specific application methods for targeted delivery to the affected areas. Different polymeric vehicles designed for the delivery of chemotherapeutics have been discussed, including graft copolymers, liposomes, hydrogels, dendrimers, micelles, and nanoparticles. Furthermore, the effect of dimensional properties on chemotherapy is vividly described. Another integral section of the review focuses on the modes of administration of nanomedicines and emerging therapies, such as photothermal, photodynamic, immunotherapy, chemodynamic, and gas therapy, for cancer treatment. The properties, therapeutic value, advantages, and limitations of these nanomedicines are highlighted, with a focus on their increased performance versus conventional molecular anticancer therapies.
A novel partial de novo duplication of JARID2 gene causing a neurodevelopmental phenotype
Authors: Viitasalo Liisa , Kettunen Kaisa , Kankainen Matti , Niemelä Elina H. , Kiiski Kirsi 
Published: August 2022

AbstractBackgroundDeletions covering the entire or partial JARID2 gene as well as pathogenic single nucleotide variants leading to haploinsufficiency of JARID2 have recently been shown to cause a clinically distinct neurodevelopmental syndrome. Here, we present a previously undescribed partial de novo duplication of the JARID2 gene in a patient displaying features similar to those of patients with JARID2 loss‐of‐function variants.Case reportThe index patient presents with abnormalities in gross motor skills and speech development as well as neuropsychiatric disorders. The patient has markedly dark infraorbital circles and slightly prominent supraorbital ridges.Whole‐genome sequencing and array comparative genomic hybridization revealed a novel disease‐causing variant type, a partial tandem duplication of JARID2, covering the exons 1–7. Furthermore, RNA sequencing validated the increased expression of these exons. Expression alterations were also detected in target genes of the PRC2 complex, in which JARID2 acts as an essential member.ConclusionOur data add to the variety of different pathogenic variants associated with JARID2 neurodevelopmental syndrome.
Effects of external electrical stimulation added to pelvic floor muscle training in women with stress urinary incontinence: A randomized controlled study
Authors: Sahin Ulku Kezban , Acaröz Sevim , Çirakoğlu Abdullah , Benli̇ Erdal , Akbayrak Türkan 
Published: August 2022

AbstractObjectiveIn this study, the combination of external electrical stimulation (EES) with pelvic floor muscle training (PFMT) was assessed to determine if it yielded better results than PFMT or EES alone for treatment of stress urinary incontinence (SUI).Study DesignFifty‐one women with SUI were randomly allocated to EES + PFMT (n = 17), PFMT (n = 17), or EES groups (n = 17) for 8 weeks of treatment. Personal, demographic, and clinical characteristics of the patients were recorded. Outcome measures included self‐reported improvement, severity of incontinence, symptom distress, quality of life (QOL), urinary incontinence episodes, pelvic floor muscle strength (PFMS) and endurance (PFME) and dysfunction. All evaluations were made pre‐ and posttreatment. Data were analyzed using the Chi‐square, marginal homogeneity, Kruskal–Wallis, Wilcoxon signed‐rank or paired t test and Dunn‐Bonferroni post hoc tests.ResultsIn the 8th week, there were significant changes in self‐reported improvement, severity of incontinence, symptom distress score, urinary incontinence episodes, PFMS, PFME, pelvic floor dysfunction and all areas of QoL in all groups (p < 0.05). Combined therapy was not superior to PFMT and EES for overall outcome measures, except for the incontinence impact subdomain of the QoL score (p < 0.05).ConclusionsOur study supports the idea that PFMT should be preferred as the first line therapy for women with SUI. However, the acceptable EES method can be recommended in addition to PFMT to increase motivation and treatment compliance in patients with insufficient or inaccurate pelvic floor muscle contractions.
Impairment of urinary bladder mechanical properties in rat model of type 2 diabetes
Authors: Philyppov Igor B. , Sotkis Ganna V. , Danshyna Anastasiia O. , Yelyashov Semen I. , Sharopov Bizhan R. , Shuba Yaroslav M. 
Published: August 2022

AbstractAimsThe urinary bladder is a mechanosensitive organ that accumulates, stores, and expels considerable amounts of fluid. While the neuronal bladder control via the CNS is well defined, the data on the mechanisms of local mechanical sensitivity of the bladder wall are either insufficient or contradictory. Here we compared the mechanical properties of bladder wall of normal rats and rats with modeled type 2 diabetes (T2D).MethodsT2D was modeled in 3‐month‐old Wistar male rats by combined administration of nicotinamide (230 mg/kg) and streptozotocin (65 mg/kg). Cystometry of isolated, denervated whole bladders and stress‐strain tensiometry on detrusor smooth muscle (DSM) strips were used to assess the mechanical properties of bladder wall tissues from control and diabetic animals on 10th week after induction.ResultsThe pressure‐volume cystometrograms of both control and T2D bladders featured a quasi plateau between ascending sections. T2D cystometrograms revealed markedly elevated intravesicular pressure (~100% at 1 ml) and a shortened plateau, consistent with decreased bladder wall elasticity and reduced structural bladder capacity versus control. Experiments on urothelium‐intact and urothelium‐devoid DSM strips have shown that the decrease of bladder walls elasticity in T2D can be explained by the switch of stretched urothelium from inducing DSM relaxation to inducing DSM contraction due to a change in the prevalent release of contractile versus relaxing urothelial factor(s).ConclusionsThe decreased elasticity of the bladder walls in T2D results from alterations in urothelium‐dependent mechanosensory mechanisms. Elevated intravesical pressure in T2D may contribute to urge incontinence and/or symptoms of upper urinary tract damage.
Anxiety disorders, depression and incontinence in preschool children—A population‐based study
Authors: Hussong Justine , Greiner Marion , Schiedermaier Ulrike , Mattheus Hannah , von Gontard Alexander 
Published: August 2022

AbstractObjectiveThe aim was to examine associations of specific anxiety disorders, depressive symptoms, and incontinence in a representative, population‐based sample of preschool children.MethodsAll preschool children of a defined geographical area examined before school‐entry were included. Parents completed a questionnaire including the Preschool Feelings Checklist (PFC), eight questions referring to nocturnal enuresis (NE), daytime urinary incontinence (DUI), fecal incontinence (FI) and constipation, and 30 items regarding Diagnostic and Statistical Manual of Mental Disorders—Fifth Edition (DSM‐5) diagnostic criteria of separation anxiety disorder (SAD), social phobia (SOC), specific phobia (PHOB), and generalized anxiety disorder (GAD). Data of 1206 children (mean age = 5.7 years; 53.5% boys) are presented.Results34.6% of incontinent children had an anxiety disorder based on DSM‐5 criteria and 13.3% had clinically relevant depressive symptoms (measured by the PFC). Rates of incontinence overall were 14.1% (11.9% NE, 3.1% DUI, and 1.8% FI) and 6.3% for constipation. Rates of SOC and PHOB were increased in NE (20.8% and 25.4%), DUI (39.3% and 34.5%) and FI (35.3% and 50.0%) compared to continent children (13.5% and 17.2%). Children with constipation had higher rates of SOC, PHOB, and GAD than those without. Compared to continent children (9.7%), depressive symptoms were more frequent in children with NE (26.8%), DUI (50.0%), and FI (61.9%).ConclusionAnxiety disorders and depressive symptoms are common in children with incontinence. The most specific DSM‐5 disorders associated with incontinence are SOC and PHOB, which can be incapacitating and may require treatment. Due to the high rates of anxiety disorders, it is important to screen all children with incontinence, for example, with specific questionnaires.