bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel genetic variant associated with globoid cell leukodystrophy in a family of mixed breed dogs
Authors: Hammack Samantha , Hague Devon Wallis , Vieson Miranda D. , Esdaile Elizabeth , Hughes Shayne S. , Bellone Rebecca R. , McCoy Annette M. 
Published: August 2023

AbstractBackgroundGloboid cell leukodystrophy (GCL) is a fatal autosomal recessive disease caused by variants in the galactosylceramidase (GALC) gene. Two dog breed‐specific variants are reported.ObjectivesCharacterize the putatively causative GALC variant for GCL in a family of dogs and determine population allele frequency.AnimalsFour related mixed‐breed puppies with signs of neurologic disease were evaluated. Subsequently, 33 related dogs were tested for genetic markers for parentage and the identified GALC variant. Additional GALC genotyping was performed on 278 banked samples from various breeds.MethodsThe 4 affected puppies had neurological exams and necropsies. DNA was isolated from blood samples. Variants in GALC were identified via Sanger sequencing. Parentage testing was performed using short tandem repeat markers. Prevalence of the GALC variant of interest was investigated in other breeds.ResultsGCL was confirmed histopathologically. A novel missense variant in GALC (NC_006590.4:g.58893972G>A) was homozygous in all affected animals (n = 4). A recessive mode of inheritance was confirmed by parentage testing as was variant linkage with the phenotype (LOD = 3.36). Among the related dogs (n = 33), 3 dogs were homozygous and 7 heterozygous. The variant allele was not detected in screening 278 dogs from 5 breeds. The novel variant is either unique to this family or has an extremely low allele frequency in the general population.Conclusions and Clinical ImportanceA novel GALC variant was identified that likely explains GCL in this cohort. The identification of multiple causal variants for GCL in dogs is consistent with findings in humans.
Comparison of turbidometric immunoassay and brix refractometry to radial immunodiffusion for assessment of colostral immunoglobulin concentration in beef cattle
Authors: Breuer Ryan M. , Wiley Caitlin , Dohlman Tyler , Smith Joseph S. , McKeen Lauren , Kreuder Amanda J. 
Published: August 2023

AbstractBackgroundColostral immunoglobulin G (IgG) concentration is critical to the attainment of adequate transfer of passive immunity in cattle, however, studies comparing available tools for measurement of colostral IgG concentration in beef cattle are limited.ObjectivesTo report the agreement between 3 commercially available tests for evaluating IgG concentration in beef colostrum.AnimalsTwo hundred six beef‐breed cows hospitalized for calving management or dystocia.MethodsRetrospective study to assess IgG of whole colostrum measured stall‐side via turbidimetric immunoassay (TI) and brix refractometry (BRIX), compared to fat separated (FS) analysis via single radial‐immunodiffusion (RID; reference standard), TI‐FS and BRIX‐FS. Test performance was assessed using Passing Bablock regression, Bland‐Altman analysis, and area under the curve to determine optimal thresholds.ResultsCorrelation between RID and TI‐FS, BRIX‐FS, or BRIX was similar (Spearman's ρ = 0.717, 0.715, 0.716, respectively) but correlation for TI was poor (ρ = 0.586). Regression analysis identified a substantial constant (−214.75 [CI: −272.03 to −178.07]) and proportional (13.24 [CI: 11.81‐15.37]) bias between the RID and TI‐FS which was similar for TI. TI‐FS concentrations of 28.47, 38.75, and 50.62 g/L, BRIX‐FS of ≤21.9%, ≤24.0%, and ≤27.4%, and BRIX of ≤21.3%, ≤23.8%, and ≤26.4% indicated IgG concentrations <50, <100, and <150 g/L, respectively; appropriate cutoffs for TI could not be generated.Conclusions and Clinical ImportanceBoth TI and TI‐FS demonstrated a large constant and proportional bias compared to RID; BRIX and BRIX‐FS were well correlated with RID and remain a reliable method for estimation of colostral IgG concentration in beef cattle.
A systematic review of migrant women's experiences of successful exclusive breastfeeding in high‐income countries
Authors: Izumi Chieko , Trigg Joshua , Stephens Jacqueline H. 
Published: August 2023

AbstractThe World Health Organisation recommends exclusive breastfeeding for the first 6 months after childbirth. However, since breastfeeding is influenced by cultural practice, it differs between migrant mothers and nonmigrant mothers. This systematic review examined migrant mothers' perceptions and experiences impacting achievement of exclusive breastfeeding after immigration from a low‐middle‐income country to a high‐income country. CINAHL, Medline, Scopus, Web of Science, PsycINFO and Emcare were searched for qualitative studies published from 2010 to August 2022. Eleven studies met inclusion criteria. We used meta‐ethnographic synthesis to identify overarching themes, resulting in five themes: Migrant mothers (1) ‘recognised the differences in breastfeeding practice between their home and host country’. During acculturation, mothers modify or stick to their breastfeeding practice in their host country based on their (2) ‘breastfeeding knowledge’ by combining their (3) ‘original ethnic identity’ with the (4) ‘influence of family members, healthcare workers, infants, peers and workplace’. Although they face barriers, their (5) ‘autonomy’ motivated them to continue breastfeeding in a country where the breastfeeding norm differs from where they come from. Intrapersonal and interpersonal socio‐ecological factors played a significant role in their breastfeeding practice in the host country. Findings indicate public health policy and practice to support breastfeeding for migrant women in high‐income countries can be improved, particularly by emphasising the importance of providing affirmative, comprehensive and practical support from healthcare professionals.
The effect of childbirth trauma on willingness to donate milk in women following perinatal loss: The mediating role of resilience
Authors: Li Fengling , Shi Qi , Xiong Tao , Li Yang , Zheng Yuxi , Jiang Guolu , Duan Diana S. , Wei Xuemei , Cui Lijun , Chen Zhaoxia 
Published: August 2023

AbstractLimited studies have been conducted on Chinese women's willingness to donate milk following perinatal loss. In this study, we explore the relationship among childbirth trauma, willingness to donate milk, and resilience in women following perinatal loss, and the mediating effect of resilience between childbirth trauma and willingness to donate milk. A cross‐sectional study was carried out throughout 4 months. We used convenience sampling methods and recruited 241 women following a perinatal loss from eight tertiary hospitals in Sichuan Province, China. Participants completed four questionnaires during a face‐to‐face individual interview: the general information questionnaire, the Willingness to Donate Milk Scale (WMDS), the City Birth Trauma Scale, and the Brief Resilience Scale. SPSS 20.0 was used to analyze the collected data. In our study, childbirth trauma was negatively correlated with the total and each dimension score of WMDS (p < 0.001). Resilience was positively correlated with the total and each dimension score of WMDS (p < 0.001). Resilience partially mediated the relationship between childbirth‐related symptoms and willingness to donate milk (β = −0.38, 95% confidence interval [CI]: −0.50 to −0.26), which accounted for 69.03% of the total effect. Resilience partially mediated the relationship between general symptoms and willingness to donate milk (β = −0.31, 95% CI: −0.40 to −0.21), which accounted for 66.89% of the total effect. Resilience partially mediated the relationship between childbirth trauma and willingness to donate milk in women following perinatal loss. Our findings suggest that resilience can play a significant role in mediating the relationship between childbirth trauma and willingness to donate milk in women following perinatal loss. These results could help healthcare professionals design interventions for physical and mental recovery after perinatal loss.
Gene co‐option, duplication and divergence of cement proteins underpin the evolution of bioadhesives across barnacle life histories
Authors: Wong Yue Him , Dreyer Niklas , Liu HaoCheng , Lan Yi , Chen Jamie J. , Sun Jin , Zhang Wei‐Peng , Qian Pei‐Yuan , Chan Benny K. K. 
Published: August 2023

AbstractAcquisition of new genes often results in the emergence of novel functions and is a key step in lineage‐specific adaptation. As a group of sessile crustaceans, barnacles establish permanent attachment through initial cement secretion at the larval phase followed by continuous cement secretion in juveniles and adults. However, the origins and evolution of barnacle larval and adult cement proteins remain poorly understood. By performing microdissection of larval cement glands, transcriptome and shotgun proteomics and immunohistochemistry validation, we identified 30 larval and 27 adult cement proteins of the epibiotic turtle barnacle Chelonibia testudinaria, of which the majority are stage‐ and barnacle‐specific. While only two proteins, SIPC and CP100K, were expressed in both larvae and adults, detection of protease inhibitors and the cross‐linking enzyme lysyl oxidase paralogs in larvae and adult cement. Other barnacle‐specific cement proteins such as CP100k and CP52k likely share a common origin dating back at least to the divergence of Rhizocephala and Thoracica. Different CP52k paralogues could be detected in larval and adult cement, suggesting stage‐specific cement proteins may arise from duplication followed by changes in expression timing of the duplicates. Interestingly, the biochemical properties of larval‐ and adult‐specific CP52k paralogues exhibited remarkable differences. We conclude that barnacle larval and adult cement systems evolved independently, and both emerged from co‐option of existing genes and de novo formation, duplication and functional divergence of lineage‐specific cement protein genes. Our findings provide important insights into the evolutionary mechanisms of bioadhesives in sessile marine invertebrates.
Bringing the body into play: The corporeal aspect in second language acquisition
Authors: Witte Arnd 
Published: August 2023

AbstractThis article foregrounds the role of the learner's experienced and expressive body in the process of action‐oriented intercultural second language acquisition (SLA), drawing on phenomenological and related research on embodiment. It suggests that processes of perception, cognition, intentionality, and action are fundamentally shaped by the preconscious experiences of the moving body and its real‐time, unmediated interaction with affordances of the social, cultural, and material environment. The prereflective corporeal resonances and experiences provide foundational orientations and scaffoldings for perceptive, emotive, and cognitive processes, emerging through situated bodily activities. Thus, the explicit integration of learners’ active bodies in SLA processes mobilizes largely untapped resources of embodied learning. Preconscious resonances with the second language and the cultural other can be directly sensed in, through, and with the body, allowing for spontaneous behavior to flow naturally in intercultural situations. By engaging the active body in SLA, elements of body memory, and not just episodic memory, are continually reenacted and actualized. The regular training of attentiveness to the corporeal resonances with and adaptive responses to the affordances in the SLA process serves to orientate and scaffold hermeneutical learning and to anchor it in learners’ life experience.
Tracking learnables and teachables in L2 Arabic dyadic conversations‐for‐learning
Authors: Al Masaeed Khaled 
Published: August 2023

AbstractThis article adopts learning‐behavior tracking as a research methodology within conversation analysis for second language acquisition to investigate its applicability to track and document how learning opportunities through collaborative repair work are brought about and whether they lead to second language (L2) word learning. To this end, the study examines longitudinal video‐recorded data from L2 Arabic dyadic conversations‐for‐learning beyond the classroom over 3 months. Findings highlight empirical and methodological contributions. First, the detailed analyses show that other‐initiated repair of a vocabulary item by the first language (L1) conversation partner is found to create opportunities for learning and lead to learning when it is oriented to as worthy of teaching by the L1 speaker and as a learnable by the L2 learner. Second, the study demonstrates the applicability of the learning‐behavior tracking model in illuminating learnables and teachables and providing evidence for whether learning has occurred as a result of being oriented to as such by both participants in real‐time interaction.
Optimal timing for therapeutic drug monitoring of voriconazole to prevent adverse effects in Japanese patients
Authors: Hanai Yuki , Ueda Takashi , Hamada Yukihiro , Oda Kazutaka , Takahashi Yoshiko , Nakajima Kazuhiko , Miyazaki Yoshitsugu , Kiriyama Mone , Uekusa Shusuke , Matsuo Kazuhiro , Matsumoto Kazuaki , Kimura Toshimi , Takesue Yoshio 
Published: August 2023

AbstractBackgroundThe optimal timing for therapeutic drug monitoring (TDM) of voriconazole in Asians, who have higher rates of poor metabolisers than non‐Asians, is unclear. This can cause unexpectedly high concentrations and delays in reaching steady‐state levels.ObjectivesTo determine the appropriate timing of TDM in Japanese patients receiving voriconazole.Patients/MethodsTrough levels (Cmin) were measured on days 3–5 (recommended timing, RT) and days 6–14 (delayed timing, DT) after starting voriconazole in patients receiving an appropriate dosage. Considering bioavailability, Cmin was only compared in patients receiving oral voriconazole.ResultsA total of 289 and 186 patients were included in the safety and pharmacokinetic analyses, respectively. There was a significant difference in Cmin measured no later than and after day 5 (3.59 ± 2.12 [RT] vs. 4.77 ± 3.88 μg/mL [DT], p = .023), whereas no significant difference was observed on cutoff day 6 (3.91 ± 2.60 vs. 4.40 ± 3.94 μg/mL, p = .465), suggesting that Cmin close to the steady‐state was achieved after day 5. DT causes a delay in achieving the therapeutic range. The hepatotoxicity rates were 21.5% and 36.8% in the RT and DT groups, respectively (p = .004); DT was an independent risk factor for hepatotoxicity.ConclusionAlthough steady‐state concentrations may not be achieved by day 5, early dose optimisation using RT can prevent hepatotoxicity in Japanese patients. TDM should be performed on days 3–5 to ensure safety. However, subsequent TDM may be necessary due to a possible further increase in Cmin.
Association of Kallikrein Related Peptidase 3 (KLK3) gene with dermatophytosis in the UK biobank cohort
Authors: Lehrer Steven , Rheinstein Peter H. 
Published: August 2023

AbstractBackgroundIn a previous genome wide association study (GWAS) of UK Biobank (UKB) data, we identified one susceptibility locus, tubulointerstitial nephritis antigen (TINAG), with genome wide significance for dermatophytosis. We used genotype calls from file UKB22418. These data are derived directly from Affymetrix DNA microarrays but are missing many genotype calls. Using computationally efficient approaches, UKB has entered imputed genotypes into a second dataset, UKB22828, increasing the number of testable variants by over 100‐fold to 96 million variants.MethodsIn the current study, we used UKB imputed genotypes in UKB22828 to identify dermatophytosis susceptibility loci. To identify cases of dermatophytosis, we used ICD10 code B35, which covers tinea barbae, tinea capitis, tinea unguium, tinea manuum, tinea pedis, tinea corporis, tinea imbricata, tinea cruris, other dermatophytoses and dermatophytosis, unspecified. We used PLINK, a whole‐genome association analysis toolset, to analyse the UKB22828 chromosome files.ResultsGWAS summary (Manhattan) plot of the meta‐analysis association statistics highlighted two susceptibility loci, TINAG and Kallikrein Related Peptidase 3 (KLK3), with genome wide significance for dermatophytosis. KLK3, also known as prostate specific antigen (PSA), belongs to a subclass of serine proteases with a variety of physiological functions.ConclusionKLK3 may be a dermatophytosis susceptibility gene. KLK3 could affect risk of dermatophytosis, since kallikreins are necessary for normal homeostasis of the skin.
Quantifying effects of cold acclimation and delayed springtime photosynthesis resumption in northern ecosystems
Authors: Luo Yunpeng , Gessler Arthur , D'Odorico Petra , Hufkens Koen , Stocker Benjamin D. 
Published: August 2023

Summary

Land carbon dynamics in temperate and boreal ecosystems are sensitive to environmental change. Accurately simulating gross primary productivity (GPP) and its seasonality is key for reliable carbon cycle projections. However, significant biases have been found in early spring GPP simulations of northern forests, where observations often suggest a later resumption of photosynthetic activity than predicted by models.

Here, we used eddy covariance‐based GPP estimates from 39 forest sites that differ by their climate and dominant plant functional types. We used a mechanistic and an empirical light use efficiency (LUE) model to investigate the magnitude and environmental controls of delayed springtime photosynthesis resumption (DSPR) across sites.

We found DSPR reduced ecosystem LUE by 30–70% at many, but not all site‐years during spring. A significant depression of LUE was found not only in coniferous but also at deciduous forests and was related to combined high radiation and low minimum temperatures.

By embedding cold‐acclimation effects on LUE that considers the delayed effects of minimum temperatures, initial model bias in simulated springtime GPP was effectively resolved. This provides an approach to improve GPP estimates by considering physiological acclimation and enables more reliable simulations of photosynthesis in northern forests and projections in a warming climate.
Left ventricular CRT‐D lead implantation using the retrograde approach following lateral vein balloon angioplasty
Authors: Ciechański Erwin , Denysiuk Piotr , Ciechański Krystian , Chromiński Tomasz , Szczasny Marcin , Błaszczak Piotr , Głowniak Andrzej 
Published: August 2023

AbstractA 60‐year‐old female with heart failure with reduced left ventricle ejection fraction, implantable cardiac defibrillator and left bundle branch block was admitted to Department of Cardiology for cardiac resynchronization therapy defibrillator upgrade. Due to difficulties with advancement of left ventricular lead to lateral coronary vein, balloon angioplasty with use of retrograde approach via collateral branches and two CS sheaths positioning was performed. Final position of lead in lateral vein was achieved resulting with pacing threshold of 0.7 V/0.5 ms, impedance of 720 Ω and QRS of 130 ms.
Device implantation complicated by a retrosternal goiter
Authors: Elshafie Sally , Tariq Abu Taher , Leon Francisco Leyva 
Published: August 2023

AbstractCentral venous obstruction in the cardiac implantable electronic devices (CIED) population is commonly due to thrombosis and fibrosis secondary to the passage of pre‐existing leads. However, vein occlusion before CIED implantation is uncommon, and one cause is retrosternal goiters. We report a case where the failure of the initial implantation of a primary CIED led to an unusual implantation route without goiter excision. The patient had an indication for cardiac resynchronization therapy (CRT) given his left ventricular (LV) function was impaired and had second‐degree heart block Mobitz Type II; however, he had occluded bilateral subclavian veins due to a sizeable retrosternal goiter. This obstruction led to the implantation of a single lead pacemaker via the right femoral vein after multiple failed attempts at CRT, dual chamber pacemaker and left bundle branch area pacing (LBBaP).
Brain‐derived subgroups of bipolar II depression associate with inflammation and choroid plexus morphology
Authors: Cao Yuan , Lizano Paulo , Deng Gaoju , Sun Huan , Zhou Xiaoqin , Xie Hongsheng , Zhan Yaru , Mu Jingshi , Long Xipeng , Xiao Hongqi , Liu Shiyu , Gong Qiyong , Qiu Changjian , Jia Zhiyun 
Published: August 2023

AimElevated inflammation and larger choroid plexus (ChP) volume has been previously identified in mood disorders. Connections between inflammation, ChP, and clinical symptoms in bipolar II depression (BDII‐D) are unclear. Data‐driven clustering based on neuroanatomical phenotypes may help to elucidate neurobiological associations in BDII‐D.MethodsInflammatory cytokines, clinical symptoms, and neuroanatomical features were assessed in 150 BDII‐D patients. Sixty‐eight cortical surface area (SA) and 19 subcortical volumes were extracted using FreeSurfer. The ChP volume was segmented manually using 3D Slicer. Regularized canonical correlation analysis was used to identify significantly correlated components between cortical SA and subcortical volumes (excluding the ChP), followed by k‐means clustering to define brain‐derived subgroups of BDII‐D. Low‐grade inflammation was derived by averaging the standardized z scores of interleukin (IL)‐6, IL‐1β, and tumor necrosis factor‐α (TNF‐α), which were computed to create a composite z‐value score. Partial Pearson correlations followed by multiple comparison correction were conducted to explore associations between inflammation, clinical symptoms, and ChP volume.ResultsSubgroup I demonstrated smaller subcortical volume and cortical SA, higher inflammation, and larger ChP volume compared with subgroup II. Greater ChP volume was associated with a higher low‐grade inflammation (mean r = 0.289, q = 0.003), CRP (mean r = 0.249, q = 0.007), IL‐6 (left r = 0.200, q = 0.03), and TNF‐α (right r = 0.226, q = 0.01), while greater IL‐1β was significantly associated with severe depressive symptoms in BDII‐D (r = 0.218, q = 0.045).ConclusionsNeuroanatomically‐derived subgroups of BDII‐D differed in their inflammation levels and ChP volume. These findings suggest an important role of elevated peripheral inflammation and larger ChP in BDII‐D.
Intralesional measles, mumps, and rubella vaccine after failure of intralesional Candida antigen for the treatment of recalcitrant pediatric warts
Authors: Ulschmid Caden M. , Patel Jay , Pan Amy Y. , Liegl Melodee , Holland Kristen E. 
Published: August 2023

AbstractNumerous studies have investigated the efficacy of intralesional immunotherapy for warts, but there are a lack of studies investigating the efficacy of alternative intralesional immunotherapies following failure of initial intralesional immunotherapy. In this retrospective study, we aimed to investigate the efficacy of intralesional measles, mumps, and rubella vaccine for the treatment of pediatric warts following failure of intralesional therapy with Candida antigen. Following intralesional measles, mumps, and rubella vaccine administration, 8/51 (15.5%) patients had complete resolution of their warts, 6/51 (12%) had near complete resolution, 19/51 (37%) had partial improvement, 12/51 (23.5%) had no change, and 6/51 (12%) had worsening. Although limited by retrospective nature and low sample size, our results demonstrate that intralesional immunotherapy with measles, mumps, and rubella vaccine provides an alternative therapeutic option for the treatment of recalcitrant pediatric warts in patients who fail to respond to intralesional Candida antigen.