bluuebunny/crossref_metadata_2025_split huggingface dataset:
Two novel mutations in the MCM8 gene shared by two Chinese siblings with primary ovarian insufficiency and short stature
Authors: Wang Fei , Guo Sheng , Li Pin 
Published: July 2020

AbstractBackgroundMinichromosome maintenance complex component 8 (MCM8) is responsible for homologous recombination and DNA double‐strand breaks (DSBs) repair and is the cause of primary ovarian insufficiency (POI), which is seldom diagnosed in adolescents and children.MethodsWhole‐exome sequencing was performed in a 13‐year‐old girl, and Sanger sequencing was used to identify potentially pathogenic variants in her sister (aged 6 years and 7 months) and parents. To identify potential pathogenic mutations, DSBs were induced by mitomycin C (MMC), and the DNA repair capacity was evaluated by the histone H2AX phosphorylation level.ResultsTwo novel mutations of MCM8, i.e., c.724T>C (p.C242R) and c.1334C>A (p.S445*), were identified in a 13‐year‐old girl with POI who exhibited disappeared bilateral ovaries and short stature (height standard difference score [HtSDS] = −3.05), and her sister (aged 6 years and 7 months) with progressive POI whose ovary size decreased from normal to unclear and height growth gradually slowed. In the functional experiments, compared with the wild‐type, HeLa cells overexpressing mutant p.C242R and p.S445* showed a higher sensitivity to MMC. Furthermore, the mutant p.S445* has a more deleterious effect on DNA damage repair.ConclusionOur results reveal that affected children with the novel pathogenetic mutations p.C242R and p.S445* in the MCM8 gene are characterized by POI, short stature, cancer susceptibility, and genomic instability.
Lymphedema microsurgery improved outcomes of pediatric primary extremity lymphedema
Authors: Cheng Ming‐Huei , Liu Tiffany Ting‐Fong 
Published: July 2020

AbstractBackgroundPrimary lymphedema is an anomaly of the regional lymphatic system with long symptom duration or severe lymphatic obstruction. Few microsurgical treatments for primary lymphedema have been reported. This aim of this study was to investigate the outcomes of microsurgical treatments in pediatric primary lymphedema patients.MethodsBetween 2013 and 2017, pediatric primary lymphedema patients who underwent either lymphovenous anastomosis (LVA) or vascularized lymph node transfer (VLNT) were retrospectively reviewed. Cheng's Lymphedema Grading, Taiwan Lymphoscintigraphy Staging and indocyanine green lymphography were used to select the procedures. No compression garments were used postoperatively. Outcome measurements included circumferential difference, episodes of cellulitis, and Lymphedema‐specific Quality of life questionnaire (LYMQoL).ResultsNine patients with mean age of 9.2 years (range, 2–19 years) with 11 lower and two upper lymphedematous limbs underwent 11 VLNT and two LVA. All VLNT flaps survived. At a mean 38.4‐months (range, 16–63 months) of follow‐up, the mean circumferential difference in nine unilateral lymphedematous limbs was improved by 6.7 ± 9.9% (p= .066). Two patients with bilateral lower limb lymphedema had mean limb circumference improvements of 1.3 and 6.5 cm, respectively. In nine limbs with cellulitis preoperatively, episodes of cellulitis decreased by 2.67 times/year (p= .007). At a mean 22.3‐months of follow‐up (range, 13–24 months), the LYMQoL overall score in 6 patients older than 7 years was improved by 3.2 ± 1.1 points (p= .007).ConclusionsLymphedema microsurgery significantly improved the episodes of cellulitis and quality of life without utilizing compression garments in pediatric primary lymphedema patients.
Analytical solutions for the consolidation of unsaturated foundation with prefabricated vertical drain
Authors: Huang Yuanchun , Li Tianyi , Fu Xianlei , Chen Zheng 
Published: July 2020

SummaryBased on the consolidation theory raised by Fredlund, the solutions for the equal‐strain consolidation of unsaturated foundation with the prefabricated vertical drain considering smear effect and drain resistance are analytically formulated in this paper. Firstly, governing equations for excess pore pressures (i.e., excess pore‐air and pore‐water pressures) under the equal‐strain hypothesis are derived with the introduction of radial boundary conditions. Afterwards, the obtained coupled equations are solved by applying general integration, decoupling process, and Fourier sine series expansion. The smear coefficients and factors of drain resistance corresponding to air and water phases are both captured explicitly in the final solutions. Furthermore, the degenerated solutions are employed to verify the reliability of the current solutions. Finally, a parametric study is conducted to study the consolidation characteristics of the proposed foundation model against modeling sizes (S and N), smear coefficients (αa and αw), and drain resistance factors (Ga and Gw).
Risk factors for infection in home health care: Analysis of national Outcome and Assessment Information Set data
Authors: Shang Jingjing , Wang Jinjiao , Adams Victoria , Ma Chenjuan 
Published: July 2020

AbstractPatients in home health care (HHC), a rapidly growing healthcare sector, are at high risk for infections. This study aimed to identify risk factors for infections among HHC patients using the Outcome and Assessment Information Set (OASIS) data. We used a 5% random sample of the 2013 national OASIS data. Infections were identified if records indicated that patients were hospitalized or received emergency care for one of three types of infections (respiratory, wound site, and urinary tract infection). Multivariate logistic regression models were used to identify risk factors for each individual infection type. The final analysis included 128,163 patients from 8,255 HHC agencies nationwide. Approximately 3.2% of the patients developed infections during their HHC stay that led to hospitalization or emergency care treatment. We found that associations between demographics and infection risk are specific to the type of infection. In general, a history of multiple hospitalizations in past 6 months, comorbidity, having a severe condition at HHC admission, and impaired physical functioning increased HHC patients' risk of infections. We also identified that HHC patients with caregivers who needed training in providing medical procedure or treatment are at higher risk for wound‐site infections. Our findings suggest that patients with underlying medical conditions and limited physical function status are more likely to develop infection. The caregiver's lack of training in providing needed care at home also places HHC patients at high risk for infection. Education for patients and caregivers should be tailored based on their health literacy level to ensure complete understanding.
Molecular and functional characterization of urine‐derived podocytes from patients with Alport syndrome
Authors: Iampietro Corinne , Bellucci Linda , Arcolino Fanny O , Arigoni Maddalena , Alessandri Luca , Gomez Yonathan , Papadimitriou Elli , Calogero Raffaele A , Cocchi Enrico , Van Den Heuvel Lambertus , Levtchenko Elena , Bussolati Benedetta 
Published: July 2020

AbstractAlport syndrome (AS) is a genetic disorder involving mutations in the genes encoding collagen IV α3, α4 or α5 chains, resulting in the impairment of glomerular basement membrane. Podocytes are responsible for production and correct assembly of collagen IV isoforms; however, data on the phenotypic characteristics of human AS podocytes and their functional alterations are currently limited. The evident loss of viable podocytes into the urine of patients with active glomerular disease enables their isolation in a non‐invasive way. Here we isolated, immortalized, and subcloned podocytes from the urine of three different AS patients for molecular and functional characterization. AS podocytes expressed a typical podocyte signature and showed a collagen IV profile reflecting each patient's mutation. Furthermore, RNA‐sequencing analysis revealed 348 genes differentially expressed in AS podocytes compared with control podocytes. Gene Ontology analysis underlined the enrichment in genes involved in cell motility, adhesion, survival, and angiogenesis. In parallel, AS podocytes displayed reduced motility. Finally, a functional permeability assay, using a podocyte–glomerular endothelial cell co‐culture system, was established and AS podocyte co‐cultures showed a significantly higher permeability of albumin compared to control podocyte co‐cultures, in both static and dynamic conditions under continuous perfusion. In conclusion, our data provide a molecular characterization of immortalized AS podocytes, highlighting alterations in several biological processes related to extracellular matrix remodelling. Moreover, we have established an in vitro model to reproduce the altered podocyte permeability observed in patients with AS. © 2020 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of Pathological Society of Great Britain and Ireland..
Spontaneously occurring melanoma in animals and their relevance to human melanoma
Authors: van der Weyden Louise , Brenn Thomas , Patton E Elizabeth , Wood Geoffrey A , Adams David J 
Published: July 2020

AbstractIn contrast to other cancer types, melanoma incidence has been increasing over the last 50 years, and while it still represents less than 5% of all cutaneous malignancies, melanoma accounts for the majority of skin cancer deaths, due to its propensity to metastasise. Whilst melanoma most commonly affects the skin, it can also arise in mucosal surfaces, the eye, and the brain. For new therapies to be developed, a better understanding of the genetic landscape, signalling pathways, and tumour–microenvironmental interactions is needed. This is where animal models are of critical importance. The mouse is the foremost used model of human melanoma. Arguably this is due to its plethora of benefits as a laboratory animal; however, it is important to note that unlike humans, melanocytes are not present at the dermal–epidermal junction in mice and mice do not develop melanoma without genetic manipulation. In contrast, there are numerous reports of animals that spontaneously develop melanoma, ranging from sharks and parrots to hippos and monkeys. In addition, several domesticated and laboratory‐bred animals spontaneously develop melanoma or UV‐induced melanoma, specifically, fish, opossums, pigs, horses, cats, and dogs. In this review, we look at spontaneously occurring animal ‘models’ of melanoma and discuss their relevance to the different types of melanoma found in humans. © 2020 The Authors. TheJournal of Pathologypublished by John Wiley & Sons Ltd on behalf of Pathological Society of Great Britain and Ireland..
Esophageal atresia in twins compared to singletons: In utero manifestation and characteristics
Authors: Weissbach Tal , Kassif Eran , Kushnir Anya , Shust‐Barequet Shir , Leibovitch Leah , Eliasi Elior , Elkan‐Miller Tal , Zajicek Michal , Yinon Yoav , Weisz Boaz 
Published: July 2020

AbstractObjectiveEsophageal atresia with/without tracheo‐esophageal fistula (EA/TEF) is more common among twins. The detection of polyhydramnios might be altered in twins, leading to EA/TEF underdiagnosis, prenatally. The aim of the study was to compare the prenatal manifestation of EA/TEF between twins and singletons.MethodsA 12‐year study of EA/TEF cases was performed at a tertiary center. Cases exhibiting (a) small/absent stomach or (b) polyhydramnios were considered “suspected”; cases with (c) esophageal pouch were considered “detected.” We compared the rate and timing of appearance of these signs between the groups.ResultsThere were 76 cases of EA/TEF, of which 17 were a co‐twin. All twin pairs were EA/TEF discordant. The prevalence of EA/TEF at our center was 1:750 for twins (1:319 monochorionic and 1:1133 dichorionic) and 1:2399 for singletons. The rate of small/absent stomach, polyhydramnios and pouch in twins vs singletons was 23.5%, 47.1%, 29.4% and 39.7%, 72.4%,34.5%, respectively (P = .2, P = .09 and P = .7). Esophageal pouch was detected earlier in twins (P = .03). Twins were scanned more frequently (×1.8 times, P = .01).ConclusionEA/TEF is more prevalent in twins. Despite lower rate of polyhydramnios, twins were similarly detected prenatally as singletons, and this was accomplished earlier in pregnancy; perhaps reflecting more frequent scans.
Multiscale analysis of nanoparticles size effects on thermal, elastic, and viscoelastic properties of nano‐reinforced polymers
Authors: Blivi Adoté S. , Bedoui Fahmi , Weigand Steven , Kondo Djimédo 
Published: July 2020

AbstractDependency of microstructural organization, thermal, and mechanical properties of reinforced polymers on the size of the fillers was investigated on model nano‐reinforced polymers. Binary systems made of poly(methyl methacrylate) and silica spheres were prepared. While volume fraction was kept constant, silica sphere diameters were varied from 500 nm down to 15 nm. X‐ray scattering techniques along with static and dynamic mechanical analysis were conducted on the different prepared binary systems. From our experimental results, it appears that decreasing particle size lead to reduced interchain distances which could be interpreted as matrix densification. In addition, intrachain distance reflecting distance between two carbonyl groups within the same chain was also affected by particle size. Decrease of such distance was interpreted as local segmental rotation induced by size reduction. From mechanical aspects, reducing the size enhanced elastic properties, as evidenced by the increase in the elastic modulus. Dynamic analysis also confirmed such trend where the storage modulus increases for sample with smaller silica particle. Chain mobility quantified through the composite glass transition and the damping factor revealed size‐induced mobility restriction through the observed increase of the glass transition. Particle size, when less than 60 nm, appeared as an important parameter contribution to material properties enhancement through multiscale microstructural characterization and mechanical analysis.
The Difference in Medial Meniscal Extrusion between Non‐Weight‐Bearing and Weight‐Bearing Positions in People with and without Medial Compartment Knee Osteoarthritis
Authors: Reisner Jacob H. , Franco John M. , Hollman John H. , Johnson Adam C. , Sellon Jacob L. , Finnoff Jonathan T. 
Published: July 2020

BackgroundMedial meniscal extrusion (MME) has been correlated with medial meniscal injury and progression of medial knee osteoarthritis (OA).ObjectiveTo examine the difference in MME between non‐weight‐bearing (supine) and weight‐bearing (standing) positions in patients with and without medial knee OA. Determine the correlation between body mass index (BMI), Kellgren‐Lawrence (KL) grade, Knee Osteoarthritis Outcome Score (KOOS), and MME.DesignProspective.SettingTertiary institution PM&R Department.ParticipantsForty five participants (29 female, 16 male), 24 with healthy knees and 21 with OA.Methods or InterventionsA single physician sonographer measured supine and standing MME with ultrasound (US) on each participant. The physician was blinded to all measurements. BMI was recorded on all participants. KL grades and KOOS questionnaires were obtained for the OA group.Main Outcome MeasuresMME in supine and standing positions, change in MME from supine to standing, BMI, KL grade, and KOOS subscale scores.ResultsMME increased .52 mm from supine to standing (P < .001). MME was greater in the OA group in both the supine (P = .002) and standing (P < .001) positions. Increasing BMI was moderately correlated with increasing MME (supine P = .001, standing <.001). Increasing age was correlated with increasing MME (supine P = .012, standing P = .002). Increasing KL grade (from 1 to 4) was correlated with increasing MME (supine P = .015, standing = .006). There was a small‐to‐moderate correlation between KOOS activities of daily living (ADL) subscale score and change in MME from supine to standing (P = .035). The change in MME from supine to standing positions had a small‐to‐moderate correlation (P = .035) with KOOS ADL subscale score alone but did not correlate with any of the other KOOS subscale scores or KOOS total scores. Receiver operating characteristic curve analysis suggested a standing MME value of 4.2 mm provides a positive likelihood ratio of 6.02 for knee OA.ConclusionsMME is greater in those with OA and with weight‐bearing. MME correlates with BMI, age, KL grade, and the KOOS ADL subscale score. Finally, standing MME of 4.2 mm yielded a higher positive likelihood ratio to differentiate between healthy knees and those with medial compartment OA than the previously reported value of 3.0 mm.
Characterization of flupyradifurone resistance in the whitefly Bemisia tabaci Mediterranean (Q biotype)
Authors: Wang Ran , Wang Jinda , Zhang Jiasong , Che Wunan , Feng Honglin , Luo Chen 
Published: July 2020

AbstractBACKGROUNDBemisia tabaci is one of most notorious pests on various crops worldwide and many populations show high resistance to different types of insecticides. Flupyradifurone is a novel insecticide against sucking pests. B. tabaci resistance to flupyradifurone has been detected in the field, however the mechanism of flupyradifurone resistance has rarely been studied.RESULTSThe flupyradifurone‐resistant strain (FLU‐SEL) was selected from the susceptible strain of B. tabaci (MED‐S) using flupyradifurone for 24 generations. The FLU‐SEL strain exhibited 105.56‐fold resistance to flupyradifurone, and moderate cross‐resistance to imidacloprid, but no cross‐resistance to other tested neonicotinoids. Synergism tests and metabolic enzyme assays suggested that FLU‐SEL resistance can be attributed to enhanced detoxification mediated by glutathione S‐transferase (GST) and P450 monooxygenase (P450). Compared with MED‐S strain, CYP6CX4 and GSTs2 were significantly overexpressed in FLU‐SEL, and silencing CYP6CX4 or GSTs2 increased the mortality of whiteflies to flupyradifurone challenge in FLU‐SEL. In addition, silencing CYP6CX4 also increased the mortality of whiteflies exposed to imidacloprid.CONCLUSIONOverexpression of CYP6CX4 and GSTs2 was associated with flupyradifurone resistance, as confirmed by RNA interference. Our findings suggested that metabolic resistance to flupyradifurone might be mediated by P450s and GSTs. © 2020 Society of Chemical Industry
Nicarbazin has no effect on reducing feral pigeon populations in Barcelona
Authors: Senar Juan Carlos , Navalpotro Helena , Pascual Jordi , Montalvo Tomás 
Published: July 2020

AbstractBACKGROUNDNicarbazin is an anti‐coccidial product sometimes used as a contraceptive to reduce the size of feral pigeon populations. However, its effectiveness in reducing pigeon population size in cities has caused some controversy. Here, we evaluate its effectiveness in the city of Barcelona.RESULTSIn 2017, the Barcelona City Council set 23 feeding stations with nicarbazin and ten with placebo (untreated corn). Censuses were undertaken before and after one year of treatment, within a 200‐m radius around each feeder. We also censused 28 circles of 200 m radius distributed randomly 200 m from the feeders and 28 circles > 500 m from the feeders, which acted as controls. Population size across the whole city was also evaluated pre‐ and post treatment. We found that feral pigeon density did not change after one year of treatment, either in the circles around feeding stations with nicarbazin or in the areas around control stations at 200 and > 500 m from the feeders. Population size in placebo circles rose after a year by 10%. A pigeon census for the whole of Barcelona showed a 10% increase.CONCLUSIONOverall, our results indicate that the nicarbazin treatment had no effect on feral pigeon population size, and we advise against its use as a pigeon control method, at least in large cities.
Protective efficacy of phenoxyacetyl oxazolidine derivatives as safeners against nicosulfuron toxicity in maize
Authors: Zhang Yuan‐Yuan , Gao Shuang , Hoang Minh‐Tu , Wang Zi‐Wei , Ma Xin , Zhai Yue , Li Na , Zhao Li‐Xia , Fu Ying , Ye Fei 
Published: July 2020

AbstractBACKGROUNDHerbicide safeners mitigate crop damage without reducing herbicide efficacy. Here, the protective effects of phenoxyacetyl oxazolidine derivatives as potential safeners were evaluated with a view toward reducing injury caused by sulfonylurea herbicide nicosulfuron to sensitive maize varieties.RESULTSGrowth indices demonstrated that the bioactivity of compound 9 (N‐phenoxyacety‐2‐methyl‐2,4‐diethyl‐1,3‐oxazolidine) was superior to that of R‐28725 and all other compounds tested. Compound 9 induced endogenous glutathione and upregulated glutathione‐S‐transferase (GST) in maize. Thus, it could enhance maize tolerance to nicosulfuron. Compared with the untreated water control group, the maximum reaction rate of GST was increased by 37.62%, while the maximum velocity of GST was decreased by 61.93% after treatment with compound 9. Acetolactate synthase relative activity was significantly enhanced in the case of treatment with compound 9, indicating the excellent protective effects of compound 9 against nicosulfuron in maize.CONCLUSIONSThe present work demonstrates that phenoxyacetyl oxazolidine derivatives are potentially efficacious as herbicide safeners and merit further investigation.
Cold hardiness of the South American tomato pinworm Tuta absoluta (Lepidoptera: Gelechiidae): both larvae and adults are chill‐susceptible
Authors: Tarusikirwa Vimbai L , Mutamiswa Reyard , Chidawanyika Frank , Nyamukondiwa Casper 
Published: July 2020

AbstractBACKGROUNDFor many insects, including invasive species, overwintering survival is achieved behaviourally (e.g. through migration) or physiologically by entering diapause, a state of arrested physiological development that may be accompanied with depressed supercooling points (SCPs). Diapause allows in situ adaptation to adverse environmental conditions, providing sufficient parent propagules for insect pest proliferation when optimal conditions resurface. This phenomenon has however not been observed in the invasive South American tomato pinworm Tuta absoluta in its Mediterranean invaded areas. Moreover, no studies have looked at its overwintering survival in sub‐Saharan Africa. Here, we thus investigated the cold hardiness of Tuta absoluta larvae and adults to better explain its local overwintering adaptation strategy.RESULTSLarval lower lethal temperatures ranged from −1 to −17 °C for 0.5 to 4 h durations. Adults showed lower temperature activity limits than larvae albeit freeze strategy experiments showed neither survived internal freezing. Fasting and dehydration pre‐treatment generally depressed SCPs, although asymmetrically, conferring more negative SCPs for larvae. Ramping rates, synonymic to diurnal temperature changes also significantly affected SCPs while, inoculative freezing significantly compromised freezing temperatures in both larvae and adults.CONCLUSIONOur results suggest that (i) Tuta absoluta larvae and adults are chill‐susceptible and may successfully overwinter, (ii) larvae appear more cold hardy than adults and (iii) ecological factors e.g. inoculative freezing, cooling rates, feeding‐ and hydration‐status may affect cold hardiness. These results are important in determining species range limits, population phenology, modelling pest risk status and allows temporal life‐stage specific targeting of management strategies.