bluuebunny/crossref_metadata_2025_split huggingface dataset:
The mutation screening in candidate genes related to thyroid dysgenesis by targeted next‐generation sequencing panel in the Chinese congenital hypothyroidism
Authors: Zhang Rui‐Jia , Yang Guang‐lin , Cheng Feng , Sun Feng , Fang Ya , Zhang Cao‐Xu , Wang Zheng , Wu Feng‐Yao , Zhang Jun‐Xiu , Zhao Shuang‐Xia , Liang Jun , Song Huai‐Dong 
Published: August 2021

AbstractObjectiveCongenital hypothyroidism (CH) is known to be due to thyroid dyshormonogenesis (DH), which is mostly inherited in an autosomal recessive inheritance pattern or thyroid dysgenesis (TD), whose inheritance pattern is controversial and whose molecular etiology remains poorly understood.Design and MethodsThe variants in 37 candidate genes of CH, including 25 genes related to TD, were screened by targeted exon sequencing in 205 Chinese patients whose CH cannot be explained by biallelic variants in genes related to DH. The inheritance pattern of the genes was analyzed in family trios or quartets.ResultsOf the 205 patients, 83 patients carried at least one variant in 19 genes related to TD, and 59 of those 83 patients harbored more than two variants in distinct candidate genes for CH. Biallelic or de novo variants in the genes related to TD in Chinese patients are rare. We also found nine probands carried only one heterozygous variant in the genes related to TD that were inherited from a euthyroid either paternal or maternal parent. These findings did not support the monogenic inheritance pattern of the genes related to TD in CH patients. Notably, in family trio or quartet analysis, of 36 patients carrying more than two variants in distinct genes, 24 patients carried these variants inherited from both their parents, which indicated that the oligogenic inheritance pattern of the genes related to TD should be considered in CH.ConclusionsOur study expanded the variant spectrum of the genes related to TD in Chinese CH patients. It is rare that CH in Chinese patients could be explained by monogenic germline variants in genes related to TD. The hypothesis of an oligogenic origin of the CH should be considered.
Histoplasma capsulatum var. duboisii: A KwaZulu‐Natal, South Africa public sector perspective
Authors: Khathali Lerato Claudia , Nhlonzi Gamalenkosi Bonginkosi , Mwazha Absalom 
Published: August 2021

AbstractBackgroundHistoplasma capsulatum var. duboisii (H. duboisii) causes potentially fatal disease in the immunocompromised patient, and the literature on these cases is limited. The study was undertaken to describe the cases of H. duboisii seen in a resource‐limited setting.MethodsA 5‐year retrospective, laboratory‐based histopathologic review of all H. duboisii cases.ResultsA total of 24 patients were diagnosed with cutaneous H. duboisii infection. The male‐to‐female ratio was 1.4. All the patients were human immunodeficiency virus (HIV) positive, and 70.83% (17 of 24 patients) were on antiretroviral therapy. The clinically identified lesions were as follows: plaques, nodular plaques, papules, papulo‐pustules, and umbilicated papules. Histopathological appraisal revealed organisms typical of H. duboisii. The commonest epidermal alterations were interface change, parakeratosis, spongiosis, ulceration, acanthosis, hyperkeratosis, transepidermal elimination, and exocytosis in decreasing order. The dermal changes included histiocytic pattern (n = 14), neutrophil‐rich (n = 13), non‐necrotizing granulomatous inflammation (n = 9), and karyorrhexis (n = 6). Histoplasma was confirmed in 53% (8 of 15 samples) of the tissue samples submitted for routine fungal culture.ConclusionThis study showed the demographics, clinical and histopathology features of H. duboisii infection in a resource‐limited setting. Further research on histopathological features of this rare infection is essential to expand on the knowledge base and support findings in this study.
994. NICOTIANA INSECTICIDA
Authors: Chase Mark W. , Christenhusz Maarten J. M. 
Published: August 2021

SummaryThe new species Nicotiana insecticida, which is remarkable in its insect trapping abilities, is described here. It is illustrated from plants that were grown from seeds collected near the Minilya Roadhouse on the Northwest Coastal Highway in Western Australia, Australia. They were cultivated at the Royal Botanic Gardens, Kew. Its distinguishing features, taxonomy, ecology, cytology and cultivation are discussed.
Population structure, gene flow, and sex‐biased dispersal in the reticulated flatwoods salamander (Ambystoma bishopi): Implications for translocations
Authors: Williams Steven T. , Elbers Jean P. , Taylor Sabrina S. 
Published: August 2021

AbstractUnderstanding patterns of gene flow and population structure is vital for managing threatened and endangered species. The reticulated flatwoods salamander (Ambystoma bishopi) is an endangered species with a fragmented range; therefore, assessing connectivity and genetic population structure can inform future conservation. Samples collected from breeding sites (n = 5) were used to calculate structure and gene flow using three marker types: single nucleotide polymorphisms isolated from potential immune genes (SNPs), nuclear data from the major histocompatibility complex (MHC), and the mitochondrial control region. At a broad geographical scale, nuclear data (SNP and MHC) supported gene flow and little structure (FST = 0.00–0.09) while mitochondrial structure was high (ΦST = 0.15–0.36) and gene flow was low. Mitochondrial markers also exhibited isolation by distance (IBD) between sites (p = 0.01) and within one site (p = 0.04) while nuclear markers did not show IBD between or within sites (p = 0.17 and p = 0.66). Due to the discordant results between nuclear and mitochondrial markers, our results suggest male‐biased dispersal. Overall, salamander populations showed little genetic differentiation and structure with some gene flow, at least historically, among sampling sites. Given historic gene flow and a lack of population structure, carefully considered reintroductions could begin to expand the limited range of this salamander to ensure its long‐term resilience.
Fatigue of engineered metallic materials using small‐crack theory under constant‐ and variable‐amplitude loading
Authors: Newman James C. 
Published: August 2021

AbstractThe current paper reviews application of an improved FASTRAN life‐prediction code to predict fatigue behavior of notched coupons made of an aluminum alloy and a titanium alloy. For each material, fatigue‐crack‐growth‐rate data were determined over a very wide range in rates from threshold (small‐crack region) to near fracture on standard crack‐growth specimens. In the low‐rate regime, small‐crack data were used on the aluminum alloy, whereas a compression pre‐cracking constant‐amplitude method was used on the titanium alloy. A characteristic microstructural flaw size was determined from fatigue‐test data on notched coupons under constant‐amplitude loading. These data were then used to predict fatigue behavior of similar notched coupons under various spectrum loadings. For variable‐amplitude loading conditions, an improved “rainflow‐on‐the‐fly” subroutine was used in the life‐prediction code. Comparisons are made between previous life predictions and those made with the current code under variable‐amplitude loading. In general, the new code produced longer fatigue lives than older versions. The new code worked well using the same initial microstructural flaw size for a given material under both constant‐ and variable‐amplitude loading.
Evaluating the relevance of species sorting and physiological plasticity of phytoplankton communities grown in a multifactor environment
Authors: Marzetz Vanessa , Wacker Alexander 
Published: August 2021

Abstract

The two important mechanisms influencing the response of phytoplankton communities to alterations of abiotic factors in their environment are difficult to distinguish: species sorting resulting from a change in interspecific competitive pressure, and phenotypic plasticity (here explicitly physiological plasticity i.e. species‐specific physiological adjustment). A shift in species composition as well as physiological adjustments in species can lead to changes in fatty acid composition that determine the food quality for zooplankton consumers.

We used phytoplankton communities consisting of five species and exposed them to two different light intensities, two light conditions (constant and variable), and two levels of phosphorus supply. Changes in fatty acid and species composition were analyzed. We compared community pairs differing in one factor by calculating the Bray‐Curtis similarity index for the composition of both variables. Comparing the Bray‐Curtis similarity index of the species composition with the index of the fatty acid composition was used to estimate the effects of species sorting and physiological plasticity.

Changes in nutrient supply influenced fatty acid responses based on species sorting and physiological plasticity the most. On one hand, the relevance of physiological plasticity was highest at cultivation in different nutrient supplies but the same light environment. Conversely with low nutrients species sorting appeared to dominate the response to changes in light, while at high nutrients physiological plasticity appeared to influence the response. Overall, under low phosphorus supply the communities showed a lower total fatty acid content per carbon and had increased proportions of saturated and monounsaturated fatty acids. Instead, communities in low light produced more of eicosapentaenoic acid.

Our results suggest that the relevance of species sorting and physiological plasticity in shaping the community response highly depends on the environmental factors that influence the system. Nutrient supply had the largest effect, while light had more limited conditional effects. However, all of these factors are important in shaping the food quality of the phytoplankton community for higher trophic levels.
Youth prediabetes and type 2 diabetes: Risk factors and prevalence of dysglycaemia
Authors: Saleh Mohamed , Kim Joon Young , March Christine , Gebara Nour , Arslanian Silva 
Published: August 2021

SummaryBackgroundThe American Diabetes Association recommends risk‐based screening for dysglycaemia (prediabetes and type 2 diabetes) in youth with overweight/obesity plus ≥1 risk factor. However, evidence for these recommendations is lacking.ObjectivesExamine the association between the number of risk factors and the prevalence of dysglycaemia in youth with overweight/obesity at initial presentation.MethodsIn a paediatric obesity registry, youth (>10 and <20 years old, body mass index ≥85th percentile) were categorized into four groups according to number of risk factors (1, 2, 3 and ≥4). Based on oral glucose tolerance test, participants were classified into normal glucose tolerance or dysglycaemia.ResultsOf 635 youth, 31.5% had prediabetes and 6.1% had type 2 diabetes. The prevalence of dysglycaemia was 23.1% with 1 risk factor and increased to 44.9% with ≥4 risk factors (p = 0.025). Dyslipidaemia, family history of type 2 diabetes and maternal history of gestational diabetes were significantly associated with dysglycaemia. Fasting and 2‐h insulin, 2‐h glucose increased (all p < 0.0001) and ALT increased (p = 0.001) with increasing risk factors. Insulin sensitivity and β‐cell function deteriorated significantly with increasing risk factors.ConclusionScreening for dysglycaemia in youth with obesity and any additional risk factor is warranted to target early management.
A Markovian approach to modeling a periodic order‐up‐to‐level policy under stochastic discrete demand and lead time with lost sales
Authors: Duc Nguyen Trong Tri , Tai Pham Duc , Buddhakulsomsiri Jirachai 
Published: August 2021

AbstractIn this paper, a periodic order‐up‐to‐level policy is developed by using a Markovian approach. Customer demand is modeled by using an empirical distribution. Unmet customer demand is considered as lost sales. The internal storage capacity is limited, and excessive units are stored in external storage space. Replenishment lead time is discrete and stochastic. Because of the characteristics of the demand and lead time, the demand during the lead time and the demand during the protection interval are empirical. The Markovian approach is used to estimate the system measures of performance, including the expected inventory on‐hand, expected lost sales, and expected over‐storage. The successive overrelaxation algorithm is implemented to overcome the dimensional issue of the Markov model. The optimal policy that minimizes the total cost is obtained by using a customized golden section search procedure. The proposed method is applied to a real dataset of consumable products. In addition, the effectiveness of the approach is demonstrated by a comparison with a simulation. The results indicate that the model from our approach can accurately describe the behavior of the periodic order‐up‐to‐level review system.
Measuring progress to healing: A challenge and an opportunity
Authors: Bull Richard Hillson , Staines Karen Louise , Collarte Agnes Juguilon , Bain Duncan Shirreffs , Ivins Nicola M. , Harding Keith Gordon 
Published: August 2021

AbstractComplete healing is problematic as an endpoint for evaluating interventions for wound healing. The great heterogeneity of wounds makes it difficult to match groups, and this is only possible with multivariate stratification and/or very large numbers of subjects. The substantial time taken for wounds to heal necessitates a very lengthy study. Consequently, high quality randomised controlled trials demonstrating an effect of an intervention to a satisfactory level of statistical significance and with a satisfactory level of generalisability are extremely rare. This study determines that the healing of venous leg ulcers receiving multi‐component compression bandaging follows a linear trajectory over a 4‐week period, as measured by gross area healed, percentage area healed, and advance of the wound margin. The linear trajectories of these surrogates make it possible to identify an acceleration in healing resulting from an intervention, and allows self‐controlled or crossover designs with attendant advantages of statistical power and speed. Of the metrics investigated, wound margin advance was the most linear, and was also independent of initial ulcer size.
Neither historical climate nor contemporary range fully explain the extant patterns of molecular diversity in marine species
Authors: Nielsen Erica S. , Beger Maria , Henriques Romina , von der Heyden Sophie 
Published: August 2021

AbstractAimIntraspecific diversity is a significant component of adaptive potential, and thus, it is important to identify the evolutionary processes that have and will continue to shape the molecular diversity of natural populations. This study aims to untangle the possible drivers of intraspecific molecular diversity by testing whether patterns of historical climatic stability or contemporary range position correlate with molecular diversity.LocationSouth African coastline.TaxaThe cape urchin (Parechinus angulosus), common shore crab (Cyclograpsus punctatus) and granular limpet (Scutellastra granularis).MethodsSpecies distributions were hindcasted to the Last Glacial Maximum to assess the biogeography of the study species. Linear models were built to compare the relationships between historical climatic stability or contemporary distributional ranges with extant genetic (mtDNA) and genomic (SNP) diversity.ResultsWe found large differences in the historical ranges among species and time periods. Regions of higher habitat stability corresponded to regions of higher molecular diversity, but historical climatic variability was not a predictor of molecular diversity within linear models. Lower genetic diversity values, and higher genetic differentiation, were detected in edge populations, but this was not consistent across marker type or species.Main conclusionsBoth historical and contemporary processes are potentially driving patterns of diversity, but a large portion of the variation in molecular diversity remains unexplained. Our findings suggest that marine species within cool‐temperate bioregions in the Southern Hemisphere may have more complex biogeographic and evolutionary histories than terrestrial taxa and/or coastal species within northern, formerly glaciated regions.
Bioinformatics analysis of the prognostic value of NEK8 and its effects on immune cell infiltration in glioma
Authors: Xiao Meng , Du Chaoyang , Zhang Chuanbo , Zhang Xinzhong , Li Shaomin , Zhang Dainan , Jia Wang 
Published: August 2021

AbstractGlioma is the most common malignancy of the nervous system with high rates of recurrence and mortality, even after surgery. The 5‐year survival rate is only about 5%. NEK8 is involved in multiple biological processes in a variety of cancers; however, its role in glioma is still not clear. In the current study, we evaluated the prognostic value of NEK8, as well as its role in the pathogenesis of glioma. Using a bioinformatics approach and RNA‐seq data from public databases, we found that NEK8 expression is elevated in glioma tissues; we further verified this result by RT‐PCR, Western blotting and immunochemistry using clinical samples. Functional enrichment analyses of genes with correlated expression indicated that elevated NEK8 expression is associated with increased immune cell infiltration in glioma and may affect the tumour microenvironment via the regulation of DNA damage/repair. Survival analyses revealed that high levels of NEK8 are associated with a poorer prognosis; higher WHO grade, IDH status, 1p/19q codeletion, age and NEK8 were identified as an independent prognostic factor. These findings support the crucial role of NEK8 in the progression of glioma via effects on immune cell infiltration and suggest that it is a new prognostic biomarker.
Multitoxin immunoaffinity analysis of aflatoxins and ochratoxin A in spices
Authors: Iha Maria Helena , Rodrigues Matheus Leandro , Trucksess Mary Wat 
Published: August 2021

AbstractA multitoxin method for aflatoxins (AFs) and ochratoxin A (OTA) was modified and validated to analyze black pepper, colorífico, nutmeg, paprika, and turmeric. The method consisted of acetonitrile, NaHCO3 and methanol extraction solution, multimycotoxin immunoaffinity column purification and isolation, reversed‐phase liquid chromatography separation, and fluorescence detection. The limit of detection was <0.1 ng/g for AFs and OTA. Mean recoveries of added AFs ranged from 68 to 88% with relative standard deviation of repeatability (RSDr) values <15%; aflatoxin B1 (AFB1) from 69 to 92% with RSDr <17%; and OTA from 75 to 110% with RSDr <10% at spiked levels ranged from 8 to 40 ng/g for AFs, 4 to 20 ng/g for AFB1, and 4 to 20 ng/g for OTA, respectively. Recoveries of added aflatoxin G2 were approximately 50% at spiked levels ranged from 1 to 5 ng/g. Recoveries of aflatoxin B2 and aflatoxin G1 were >70%. The linearity of the method for AFs ranged from 0.4 to 100 ng/g, for OTA from 0.2 to 40 ng/g with R2 values exceeding 0.99. Results of a single laboratory validation study validated the performance of this method meeting the method acceptability criteria. No differences in toxin detection were determined in robustness testing in which minor changes were introduced to the method.
Development of an olfactory test method for measuring perception of everyday food odors among older adults
Authors: Honnens de Lichtenberg Broge Eva , Wendin Karin , Hyldig Grethe , Bredie Wender L. P. 
Published: August 2021

AbstractAge related decline in olfactory function has major implications for food intake in older adults as the sense of smell is essential to the perception of food. The aim of this study was to develop an olfactory test method that addresses the consequences of decline in intensity perception in relation to food appreciation. This test was developed in four steps: (a) Selection of diverse food odors, evaluated on perceived familiarity. (b) Standardization of an intensity reference level for food odors in relation to 1‐butanol. (c) Assessment of shelf‐life stability. (d) Test–retest reliability for intensity and identification. Fourteen food odors comprising asparagus, bacon, banana, cinnamon, curry, coffee, fried meat, mushroom, onion, orange, raspberry, thyme, toasted bread, and vanilla obtained satisfactory familiarity score, test–retest reliability, and a stable shelf‐life except for cooked fish which was therefore excluded. This food odor test is a promising tool for evaluating olfactory performance in older people in relation to common foods and changes in preferences. However, more work is needed to further evaluate the method in practice in a larger cohort including older adults and a reference group.Practical ApplicationsThis food odor test using complex food odors is relevant in settings where meals are customized to improve food intake in older adults.
Diabetes and cardiovascular diseases are associated with the worsening of intermittent hypoxaemia
Authors: Karhu Tuomas , Myllymaa Sami , Nikkonen Sami , Mazzotti Diego R. , Kulkas Antti , Töyräs Juha , Leppänen Timo 
Published: August 2021

SummaryIntermittent hypoxaemia is a risk factor for numerous diseases. However, the reverse pathway remains unclear. Therefore, we investigated whether pre‐existing hypertension, diabetes or cardiovascular diseases are associated with the worsening of intermittent hypoxaemia. Among the included 2,535 Sleep Heart Health Study participants, hypertension (n = 1,164), diabetes (n = 170) and cardiovascular diseases (n = 265) were frequently present at baseline. All participants had undergone two polysomnographic recordings approximately 5.2 years apart. Covariate‐adjusted linear regression analyses were utilized to investigate the difference in the severity of intermittent hypoxaemia at baseline between each comorbidity group and the group of participants free from all comorbidities (n = 1,264). Similarly, we investigated whether the pre‐existing comorbidities are associated with the progression of intermittent hypoxaemia. Significantly higher oxygen desaturation index (β = 1.77 [95% confidence interval: 0.41–3.13], p = 0.011), desaturation severity (β = 0.07 [95% confidence interval: 0.00–0.14], p = 0.048) and desaturation duration (β = 1.50 [95% confidence interval: 0.31–2.69], p = 0.013) were observed in participants with pre‐existing cardiovascular diseases at baseline. Furthermore, the increase in oxygen desaturation index (β = 3.59 [95% confidence interval: 1.78–5.39], p < 0.001), desaturation severity (β = 0.08 [95% confidence interval: 0.02–0.14], p = 0.015) and desaturation duration (β = 2.60 [95% confidence interval: 1.22–3.98], p < 0.001) during the follow‐up were higher among participants with diabetes. Similarly, the increase in oxygen desaturation index (β = 2.73 [95% confidence interval: 1.15–4.32], p = 0.001) and desaturation duration (β = 1.85 [95% confidence interval: 0.62–3.08], p = 0.003) were higher among participants with cardiovascular diseases. These results suggest that patients with pre‐existing diabetes or cardiovascular diseases are at increased risk for an expedited worsening of intermittent hypoxaemia. As intermittent hypoxaemia is an essential feature of sleep apnea, these patients could benefit from the screening and follow‐up monitoring of sleep apnea.