bluuebunny/crossref_metadata_2025 huggingface dataset:
A Mendelian randomization of γ′ and total fibrinogen levels in relation to venous thromboembolism and ischemic stroke
Authors: Maners Jillian , Gill Dipender , Pankratz Nathan , Laffan Michael A. , Wolberg Alisa S. , de Maat Moniek P. M. , Ligthart Symen , Tang Weihong , Ward-Caviness Cavin K. , Fornage Myriam , Debette Stephanie , Dichgans Martin , McKnight Barbara , Boerwinkle Eric ,   CHARGE Inflammation Working Group,   INVENT Consortium,   MEGASTROKE consortium of the International Stroke Genetics Consortium (ISGC), Smith Nicholas L. , Morrison Alanna C. , Dehghan Abbas , de Vries Paul S.
Published: July 2020

Fibrinogen is a key component of the coagulation cascade, and variation in its circulating levels may contribute to thrombotic diseases, such as venous thromboembolism (VTE) and ischemic stroke. Gamma prime (γ′) fibrinogen is an isoform of fibrinogen that has anticoagulant properties. We applied 2-sample Mendelian randomization (MR) to estimate the causal effect of total circulating fibrinogen and its isoform, γ′ fibrinogen, on risk of VTE and ischemic stroke subtypes using summary statistics from genome-wide association studies. Genetic instruments for γ′ fibrinogen and total fibrinogen were selected, and the inverse-variance weighted MR approach was used to estimate causal effects in the main analysis, complemented by sensitivity analyses that are more robust to the inclusion of pleiotropic variants, including MR-Egger, weighted median MR, and weighted mode MR. The main inverse-variance weighted MR estimates based on a combination of 16 genetic instruments for γ′ fibrinogen and 75 genetic instruments for total fibrinogen indicated a protective effect of higher γ′ fibrinogen and higher total fibrinogen on VTE risk. There was also a protective effect of higher γ′ fibrinogen levels on cardioembolic and large artery stroke risk. Effect estimates were consistent across sensitivity analyses. Our results provide evidence to support effects of genetically determined γ′ fibrinogen on VTE and ischemic stroke risk. Further research is needed to explore mechanisms underlying these effects and their clinical applications.
Study on Cutting Force, Cutting Temperature and Machining Residual Stress in Precision Turning of Pure Iron with Different Grain Sizes
Authors: Yang Yinfei , Jin Lu , Zhu Jinpeng , Kong Jinxing , Li Liang
Published: July 2020

Pure iron is one of the difficult-to-machine materials due to its large chip deformation, adhesion, work-hardening, and built-up edges formation during machining. This leads to a large workpiece deformation and challenge to meet the required technical indicators. Therefore, under varying the grain size of pure iron, the influence of cutting speed, feed, and depth of cut on the cutting force, heat generation, and machining residual stresses were explored in the turning process to improve the machinability without compromising the mechanical properties of the material. The experimental findings have depicted that the influence of grain size on cutting force in the precision turning process is not apparent. However, the cutting temperature and residual stress of machining fine-grain iron were much smaller than the coarse grain at all levels of cutting parameters.
Co-dosing Ozone and Deionized Water as Oxidant Precursors of ZnO Thin Film Growth by Atomic Layer Deposition
Authors: Cheng Yung-Chen , Wang Hsiang-Chen , Feng Shih-Wei , Li Tsai-Pei , Fung Siu-Keung , Yuan Kai-Yun , Chen Miin-Jang
Published: July 2020

Characteristics of atomic layer deposition (ALD)-grown ZnO thin films on sapphire substrates with and without three-pulsed ozone (O3) as oxidant precursor and post-deposition thermal annealing (TA) are investigated. Deposition temperature and thickness of ZnO epilayers are 180 °C and 85 nm, respectively. Post-deposition thermal annealing is conducted at 300 °C in the ambience of oxygen (O2) for 1 h. With strong oxidizing agent O3 and post-deposition TA in growing ZnO, intrinsic strain and stress are reduced to 0.49% and 2.22 GPa, respectively, with extremely low background electron concentration (9.4 × 1015 cm−3). This is originated from a lower density of thermally activated defects in the analyses of thermal quenching of the integrated intensity of photoluminescence (PL) spectra. TA further facilitates recrystallization forming more defect-free grains and then reduces strain and stress state causing a remarkable decrease of electron concentration and melioration of surface roughness.
Modeling host-microbiome interactions for the prediction of meat quality and carcass composition traits in swine
Authors: Khanal Piush , Maltecca Christian , Schwab Clint , Fix Justin , Bergamaschi Matteo , Tiezzi Francesco
Published: July 2020

Background

The objectives of this study were to evaluate genomic and microbial predictions of phenotypes for meat quality and carcass traits in swine, and to evaluate the contribution of host-microbiome interactions to the prediction. Data were collected from Duroc-sired three-way crossbred individuals (n = 1123) that were genotyped with a 60 k SNP chip. Phenotypic information and fecal 16S rRNA microbial sequences at three stages of growth (Wean, Mid-test, and Off-test) were available for all these individuals. We used fourfold cross-validation with animals grouped based on sire relatedness. Five models with three sets of predictors (full, informatively reduced, and randomly reduced) were evaluated. ‘Full’ included information from all genetic markers and all operational taxonomic units (OTU), while ‘informatively reduced’ and ‘randomly reduced’ represented a reduced number of markers and OTU based on significance preselection and random sampling, respectively. The baseline model included the fixed effects of dam line, sex and contemporary group and the random effect of pen. The other four models were constructed by including only genomic information, only microbiome information, both genomic and microbiome information, and microbiome and genomic information and their interaction.

Results

Inclusion of microbiome information increased predictive ability of phenotype for most traits, in particular when microbiome information collected at a later growth stage was used. Inclusion of microbiome information resulted in higher accuracies and lower mean squared errors for fat-related traits (fat depth, belly weight, intramuscular fat and subjective marbling), objective color measures (Minolta a*, Minolta b* and Minolta L*) and carcass daily gain. Informative selection of markers increased predictive ability but decreasing the number of informatively reduced OTU did not improve model performance. The proportion of variation explained by the host-genome-by-microbiome interaction was highest for fat depth (~ 20% at Mid-test and Off-test) and shearing force (~ 20% consistently at Wean, Mid-test and Off-test), although the inclusion of the interaction term did not increase the accuracy of predictions significantly.

Conclusions

This study provides novel insight on the use of microbiome information for the phenotypic prediction of meat quality and carcass traits in swine. Inclusion of microbiome information in the model improved predictive ability of phenotypes for fat deposition and color traits whereas including a genome-by-microbiome term did not improve prediction accuracy significantly.
A topological data analysis based classification method for multiple measurements
Authors: Riihimäki Henri , Chachólski Wojciech , Theorell Jakob , Hillert Jan , Ramanujam Ryan
Published: July 2020

Background

Machine learning models for repeated measurements are limited. Using topological data analysis (TDA), we present a classifier for repeated measurements which samples from the data space and builds a network graph based on the data topology. A machine learning model with cross-validation is then applied for classification. When test this on three case studies, accuracy exceeds an alternative support vector machine (SVM) voting model in most situations tested, with additional benefits such as reporting data subsets with high purity along with feature values.

Results

For 100 examples of 3 different tree species, the model reached 80% classification accuracy after 30 datapoints, which was improved to 90% after increased sampling to 400 datapoints. The alternative SVM classifier achieved a maximum accuracy of 68.7%. Using data from 100 examples from each class of 6 different random point processes, the classifier achieved 96.8% accuracy, vastly outperforming the SVM. Using two outcomes in neuron spiking data, the TDA classifier was similarly accurate to the SVM in one case (both converged to 97.8% accuracy), but was outperformed in the other (relative accuracies 79.8% and 92.2%, respectively).

Conclusions

This algorithm and software can be beneficial for repeated measurement data common in biological sciences, as both an accurate classifier and a feature selection tool.
AdmixPipe: population analyses in Admixture for non-model organisms
Authors: Mussmann Steven M. , Douglas Marlis R. , Chafin Tyler K. , Douglas Michael E.
Published: July 2020

Background

Research on the molecular ecology of non-model organisms, while previously constrained, has now been greatly facilitated by the advent of reduced-representation sequencing protocols. However, tools that allow these large datasets to be efficiently parsed are often lacking, or if indeed available, then limited by the necessity of a comparable reference genome as an adjunct. This, of course, can be difficult when working with non-model organisms. Fortunately, pipelines are currently available that avoid this prerequisite, thus allowing data to be a priori parsed. An oft-used molecular ecology program (i.e., Structure), for example, is facilitated by such pipelines, yet they are surprisingly absent for a second program that is similarly popular and computationally more efficient (i.e., Admixture). The two programs differ in that Admixture employs a maximum-likelihood framework whereas Structure uses a Bayesian approach, yet both produce similar results. Given these issues, there is an overriding (and recognized) need among researchers in molecular ecology for bioinformatic software that will not only condense output from replicated Admixture runs, but also infer from these data the optimal number of population clusters (K).

Results

Here we provide such a program (i.e., AdmixPipe) that (a) filters SNPs to allow the delineation of population structure in Admixture, then (b) parses the output for summarization and graphical representation via Clumpak. Our benchmarks effectively demonstrate how efficient the pipeline is for processing large, non-model datasets generated via double digest restriction-site associated DNA sequencing (ddRAD). Outputs not only parallel those from Structure, but also visualize the variation among individual Admixture runs, so as to facilitate selection of the most appropriate K-value.

Conclusions

AdmixPipe successfully integrates Admixture analysis with popular variant call format (VCF) filtering software to yield file types readily analyzed by Clumpak. Large population genomic datasets derived from non-model organisms are efficiently analyzed via the parallel-processing capabilities of Admixture. AdmixPipe is distributed under the GNU Public License and freely available for Mac OSX and Linux platforms at: https://github.com/stevemussmann/admixturePipeline.
The influence of developmental diet on reproduction and metabolism in Drosophila
Authors: Klepsatel Peter , Knoblochová Diana , Girish Thirnahalli Nagaraj , Dircksen Heinrich , Gáliková Martina
Published: July 2020

Background

The adaptive significance of phenotypic changes elicited by environmental conditions experienced early in life has long attracted attention in evolutionary biology. In this study, we used Drosophila melanogaster to test whether the developmental diet produces phenotypes better adapted to cope with similar nutritional conditions later in life. To discriminate among competing hypotheses on the underlying nature of developmental plasticity, we employed a full factorial design with several developmental and adult diets. Specifically, we examined the effects of early- and late-life diets (by varying their yeast and sugar contents) on reproductive fitness and on the amount of energy reserves (fat and glycogen) in two wild-caught populations.

Results

We found that individuals that had developed on either low-yeast or high-sugar diet showed decreased reproductive performance regardless of their adult nutritional environment. The lower reproductive fitness might be caused by smaller body size and reduced ovariole number. Overall, these results are consistent with the silver spoon concept, which posits that development in a suboptimal environment negatively affects fitness-associated traits. On the other hand, the higher amount of energy reserves (fat) in individuals that had developed in a suboptimal environment might represent either an adaptive response or a side-effect of compensatory feeding.

Conclusion

Our findings suggest that the observed differences in the adult physiology induced by early-life diet likely result from inevitable and general effects of nutrition on the development of reproductive and metabolic organs, rather than from adaptive mechanisms.
Characterization of two MHC II genes (DOB, DRB) in white-tailed deer (Odocoileus virginianus)
Authors: Ivy-Israel Natascha M. D. , Moore Carolyn E. , Schwartz Tonia S. , Ditchkoff Stephen S.
Published: July 2020

Background

The major histocompatibility complex (MHC) is responsible for detecting and addressing foreign pathogens inside the body. While the general structure of MHC genes is relatively well conserved among mammalian species, it is notably different among ruminants due to a chromosomal inversion that splits MHC type II genes into two subregions (IIa, IIb). Recombination rates are reportedly high between these subregions, and a lack of linkage has been documented in domestic ruminants. However, no study has yet examined the degree of linkage between these subregions in a wild ruminant. The white-tailed deer (Odocoileus virginianus), a popular ruminant of the Cervidae family, is habitually plagued by pathogens in its natural environment (e.g. Haemonchus contortus, Elaeophora). Due to the association between MHC haplotypes and disease susceptibility, a deeper understanding of MHC polymorphism and linkage between MHC genes can further aid in this species’ successful management. We sequenced MHC-DRB exon 2 (IIa) and MHC-DOB exon 2 (IIb) on the MiSeq platform from an enclosed white-tailed deer population located in Alabama.

Results

We identified 12 new MHC-DRB alleles, and resampled 7 alleles, which along with other published alleles brings the total number of documented alleles in white-tailed deer to 30 for MHC-DRB exon 2. The first examination of MHC-DOB in white-tailed deer found significantly less polymorphism (11 alleles), as was expected of a non-classical MHC gene. While MHC-DRB was found to be under positive, diversifying selection, MHC-DOB was found to be under purifying selection for white-tailed deer. We found no significant linkage disequilibrium between MHC-DRB and MHC-DOB, suggesting that these loci are unlikely to be closely linked.

Conclusions

Overall, this study identified 12 new MHC-DRB exon 2 alleles and characterized a new, non-classical, MHC II gene (MHC-DOB) for white-tailed deer. We also found a lack of significant linkage between these two loci, which supports previous findings of a chromosomal inversion within the MHC type II gene region in ruminants, and suggests that white-tailed deer may have a recombination hotspot between these MHC regions similar to that found for Bos taurus.
Correction to: An analytical pipeline for identifying and mapping the integration sites of HIV and other retroviruses
Authors: Wells Daria W. , Guo Shuang , Shao Wei , Bale Michael J. , Coffin John M. , Hughes Stephen H. , Wu Xiaolin
Published: July 2020

An amendment to this paper has been published and can be accessed via the original article.
Population structure, genetic diversity, and selective signature of Chaka sheep revealed by whole genome sequencing
Authors: Cheng Jie , Zhao Huangqing , Chen Ningbo , Cao Xiukai , Hanif Quratulain , Pi Li , Hu Linyong , Chaogetu Buren , Huang Yongzhen , Lan Xianyong , Lei Chuzhao , Chen Hong
Published: July 2020

Background

Chaka sheep, named after Chaka Salt Lake, are adapted to a harsh, highly saline environment. They are known for their high-grade meat quality and are a valuable genetic resource in China. Furthermore, the Chaka sheep breed has been designated a geographical symbol of agricultural products by the Chinese Ministry of Agriculture.

Results

The genomes of 10 Chaka sheep were sequenced using next-generation sequencing, and compared to that of additional Chinese sheep breeds (Mongolian: Bayinbuluke and Tan; Tibetan: Oula sheep) to explore its population structure, genetic diversity and positive selection signatures. Principle component analysis and a neighbor-joining tree indicated that Chaka sheep significantly diverged from Bayinbuluke, Tan, and Oula sheep. Moreover, they were found to have descended from unique ancestors (K = 2 and K = 3) according to the structure analysis. The Chaka sheep genome demonstrated comparable genetic diversity from the other three breeds, as indicated by observed heterozygosity (Ho), expected heterozygosity (He), runs of homozygosity (ROH), linkage disequilibrium (LD) decay. The enrichment analysis revealed that in contrast to Mongolian or Tibetan lineage groups, the genes annotated by specific missense mutations of Chaka sheep were enriched with muscle structure development (GO:0061061) factors including insulin-like growth factor 1 (IGF1), growth differentiation factor 3 (GDF3), histone deacetylase 9 (HDAC9), transforming growth factor beta receptor 2 (TGFBR2), and calpain 3 (CAPN3), among others. A genome-wide scan using Fst and XP-CLR revealed a list of muscle-related genes, including neurofibromin 1 (NF1) and myomesin 1 (MYOM1), under potential selection in Chaka sheep compared with other breeds.

Conclusions

The comprehensive genome-wide characterization provided the fundamental footprints for breeding and management of the Chaka sheep and confirmed that they harbor unique genetic resources.
The alcohol dehydrogenase gene family in sugarcane and its involvement in cold stress regulation
Authors: Su Weihua , Ren Yongjuan , Wang Dongjiao , Su Yachun , Feng Jingfang , Zhang Chang , Tang Hanchen , Xu Liping , Muhammad Khushi , Que Youxiong
Published: July 2020

Background

Alcohol dehydrogenases (ADHs) in plants are encoded by a multigene family. ADHs participate in growth, development, and adaptation in many plant species, but the evolution and function of the ADH gene family in sugarcane is still unclear.

Results

In the present study, 151 ADH genes from 17 species including 32 ADH genes in Saccharum spontaneum and 6 ADH genes in modern sugarcane cultivar R570 were identified. Phylogenetic analysis demonstrated two groups of ADH genes and suggested that these genes underwent duplication during angiosperm evolution. Whole-genome duplication (WGD)/segmental and dispersed duplications played critical roles in the expansion of ADH family in S. spontaneum and R570, respectively. ScADH3 was cloned and preferentially expressed in response to cold stress. ScADH3 conferred improved cold tolerance in E. coli cells. Ectopic expression showed that ScADH3 can also enhance cold tolerance in transgenic tobacco. The accumulation of reactive oxygen species (ROS) in leaves of transgenic tobacco was significantly lower than in wild-type tobacco. The transcript levels of ROS-related genes in transgenic tobacco increased significantly. ScADH3 seems to affect cold tolerance by regulating the ROS-related genes to maintain the ROS homeostasis.

Conclusions

This study depicted the size and composition of the ADH gene family in 17 species, and investigated their evolution pattern. Comparative genomics analysis among the ADH gene families of S. bicolor, R570 and S. spontaneum revealed their close evolutionary relationship. Functional analysis suggested that ScADH3, which maintained the steady state of ROS by regulating ROS-related genes, was related to cold tolerance. These findings will facilitate research on evolutionary and functional aspects of the ADH genes in sugarcane, especially for the understanding of ScADH3 under cold stress.
An integrated linkage map of interspecific backcross 2 (BC2) populations reveals QTLs associated with fatty acid composition and vegetative parameters influencing compactness in oil palm
Authors: Yaakub Zulkifli , Kamaruddin Katialisa , Singh Rajinder , Mustafa Suzana , Marjuni Marhalil , Ting Ngoot-Chin , Amiruddin Mohd Din , Leslie Low Eng-Ti , Cheng-Li Ooi Leslie , Sritharan Kandha , Nookiah Rajanaidu , Jansen Johannes , Ong Abdullah Meilina
Published: July 2020

Background

Molecular breeding has opened new avenues for crop improvement with the potential for faster progress. As oil palm is the major producer of vegetable oil in the world, its improvement, such as developing compact planting materials and altering its oils’ fatty acid composition for wider application, is important.

Results

This study sought to identify the QTLs associated with fatty acid composition and vegetative traits for compactness in the crop. It integrated two interspecific backcross two (BC2) mapping populations to improve the genetic resolution and evaluate the consistency of the QTLs identified. A total 1963 markers (1814 SNPs and 149 SSRs) spanning a total map length of 1793 cM were integrated into a consensus map. For the first time, some QTLs associated with vegetative parameters and carotene content were identified in interspecific hybrids, apart from those associated with fatty acid composition. The analysis identified 8, 3 and 8 genomic loci significantly associated with fatty acids, carotene content and compactness, respectively.

Conclusions

Major genomic region influencing the traits for compactness and fatty acid composition was identified in the same chromosomal region in the two populations using two methods for QTL detection. Several significant loci influencing compactness, carotene content and FAC were common to both populations, while others were specific to particular genetic backgrounds. It is hoped that the QTLs identified will be useful tools for marker-assisted selection and accelerate the identification of desirable genotypes for breeding.
Two glyoxylate reductase isoforms are functionally redundant but required under high photorespiration conditions in rice
Authors: Zhang Zhisheng , Liang Xiu , Lu Lei , Xu Zheng , Huang Jiayu , He Han , Peng Xinxiang
Published: July 2020

Background

The glyoxylate reductase (GR) multigene family has been described in various plant species, their isoforms show different biochemical features in plants. However, few studies have addressed the biological roles of GR isozymes, especially for rice.

Results

Here, we report a detailed analysis of the enzymatic properties and physiological roles of OsGR1 and OsGR2 in rice. The results showed that both enzymes prefer NADPH to NADH as cofactor, and the NADPH-dependent glyoxylate reducing activity represents the major GR activity in various tissues and at different growth stages; and OsGR1 proteins were more abundant than OsGR2, which is also a major contributor to total GR activities. By generating and characterizing various OsGR-genetically modified rice lines, including overexpression, single and double-knockout lines, we found that no phenotypic differences occur among the various transgenic lines under normal growth conditions, while a dwarfish growth phenotype was noticed under photorespiration-promoted conditions.

Conclusion

Our results suggest that OsGR1 and OsGR2, with distinct enzymatic characteristics, function redundantly in detoxifying glyoxylate in rice plants under normal growth conditions, whereas both are simultaneously required under high photorespiration conditions.
Leukocytoclastic vasculitis as a rare dermatologic manifestation of Crohn’s disease mimicking cellulitis: a case report
Authors: Buck Meredith , Dumic Igor , McDermott Wendy , Nordstrom Charles , Dawan Samarth , Virata Andrew , Martin Scott , Hudson Ann , Milovanovic Tamara , Nordin Terri
Published: July 2020

Background

Leukocytoclastic vasculitis (LCV) is an immune-complex mediated vasculitis characterized by neutrophilic inflammation and nuclear debris in post capillary venules. LCV is a rare dermatologic manifestation of Crohn’s disease (CD) and may occur with the onset of the disease or any time after the diagnosis including the period of exacerbation.

Case presentation

We present a 70 year old woman with history of psoriasis and treatment refractory CD requiring monoclonal antibody therapy with ustekinumab. One month prior to the current admission, she developed abdominal pain, worsening diarrhea and was diagnosed with CD exacerbation for which she was given ustekinumab. While her abdominal symptoms mildly improved with ustekinumab, she developed new bilateral lower extremity rash initially treated with levofloxacin for presumed cellulitis. The rash consisted of mild erythematous, non-scaling patches with scattered non-palpable petechiae on the lower extremities with subsequent involvement of abdomen, lower back and buttocks. Abdominal exam showed diffuse tenderness without mass, guarding or rebound while reminder of physical exam was unremarkable. Following the failure of antimicrobial therapy, she was diagnosed with LCV by skin biopsy. Complete work up was negative for infectious, malignant and inflammatory etiologies of LCV. Patient improved with increased dose of budesonide and subsequently continued to tolerate ustekinumab without recurrence of LCV.

Discussion and conclusion

LCV is a rare form of vasculitis and one of the rarest dermatologic manifestations of CD, appearing at any stage of the disease. LCV has been associated with autoimmune diseases, infections, specific drugs (levofloxacin, ustekinumab), and malignancy. Clinical presentation of LCV is variable and frequently mistaken for cellulitis. LCV should be considered in differential diagnosis of bilateral lower extremity rash in patients with CD after infectious, malignant and auto-immune/inflammatory etiologies are excluded. Unlike erythema nodosum (EN) and pyoderma gangrenosum (PG), LCV requires biopsy for diagnosis. Most patients respond well to steroids without scarring.
Expression of tumor pyruvate kinase M2 isoform in plasma and stool of patients with colorectal cancer or adenomatous polyps
Authors: Rigi Farideh , Jannatabad Aliakbar , Izanloo Azra , Roshanravan Reza , Hashemian Hamid Reza , Kerachian Mohammad Amin
Published: July 2020

Background

Tumor pyruvate kinase M2 isoform (tM2-PK), which is an isoform of PK-glycolytic enzyme and appears on the surface of cancerous proliferating cells, has been used as a diagnostic biomarker for colorectal cancer (CRC). The aim of this study was to evaluate the tM2-PK measurement test for the diagnosis of CRCs and adenomatous polyps in plasma and stool samples in an Iranian population.

Methods

In this prospective study, a total of 226 stool and 178 plasma samples were received from patients referred to colonoscopy units. tM2-PK enzyme was measured using two separate ScheBo-Biotech-AG ELISA kits for stool and plasma samples.

Results

According to ROC curves, in the tumor group, at the cut-off value of 4 U/ml, the sensitivity of fecal tM2-PK test was 100% and the specificity was 68%, and in the polyp group, the sensitivity and specificity were 87 and 68%, respectively. For tumor detection in plasma specimens, a cut-off value > 25 U/ml has a sensitivity and specificity of 90.9 and 91.3%, respectively. Similarly, for polyp detection, a cut-off value > 19 U/ml has a sensitivity of 96.3% and the specificity of 85.5%.

Conclusions

Based on our results, a cut-off range of 4.8–8 U/ml and >  8 U/ml could be used to detect polyp and tumor in stool samples, respectively. Similarly, a cut-off range of 19–25 U/ml and > 25 U/ml is recommended in plasma samples, suggesting tM2-PK test as a non-invasive assay to diagnose CRC and adenomatous polyps.
Cystinosis beyond kidneys: gastrointestinal system and muscle involvement
Authors: Topaloglu Rezan , Gültekingil Ayşe , Gülhan Bora , Ozaltin Fatih , Demir Hülya , Çiftci Türkmen , Demir Numan , Temucin Çağrı Mesut , Yuce Aysel , Akhan Okhan
Published: July 2020

Background

Cystinosis is a multisystemic disease resulting from cystine accumulation primarily in kidney and many other tissues. We intended to study the evolution of less commonly seen extrarenal complications of cystinosis in a group of patients who have periods without cysteamine treatment.

Methods

Gastrointestinal and muscular complications of cystinosis were studied in a group of 21 patients.

Results

Twenty one patients were included in the study. Among them, 14 were homozygous and 3 were compound heterozygous for CTNS mutations. The median age of diagnosis was 15 months (range; 5 months-14 years) and the mean age at last visit was 11.3 ± 6.5 years. Nine patients (42%) had end stage renal disease at a mean age of 10.6 years (6.5–17 years). Abdominal ultrasonography and portal vein doppler ultrasonography were performed in19 patients, 14 of them (74%) had hepatomegaly, 10 patients (53%) had granular pattern or heterogeneity of liver. Only one patient had high transaminase levels and liver biopsy showed cystine crystals in the liver. Eleven patients (58%) had borderline or increased portal vein minimum and maximum flow velocities. One patient had CK level of 9024 U/L and electromyographic study showed active myopathic involvement. Two patients were found to have gastroesaphageal reflux only and 4 patients were found to have esophageal remnants in addition to reflux.

Conclusions

In addition to renal functions, extrarenal organs may be affected from cystine accumulation even in childhood, especially in patients who are incompliant to treatment, resulting in complications such as swallowing difficulty, hepatomegaly and portal hypertension.
Accelerometer-measured and self-reported physical activity in relation to extraversion and neuroticism: a cross-sectional analysis of two studies
Authors: Kekäläinen Tiia , Laakkonen Eija K. , Terracciano Antonio , Savikangas Tiina , Hyvärinen Matti , Tammelin Tuija H. , Rantalainen Timo , Törmäkangas Timo , Kujala Urho M. , Alen Markku , Kovanen Vuokko , Sipilä Sarianna , Kokko Katja
Published: July 2020

Background

Personality reflects relatively stable and pervasive tendencies in feeling, thinking and behaving. While previous studies have found higher extraversion and lower neuroticism to be linked to higher self-reported physical activity levels, larger studies using accelerometer-measured physical activity are lacking. This study investigated the cross-sectional associations of extraversion and neuroticism with both accelerometer-measured and self-reported physical activity and the role of these personality traits in possible discrepancies between these two measures of physical activity among Finnish adults.

Methods

Two community-dwelling samples were used in this study: a) 47–55-yr-old women (n = 1098) and b) 70–85-yr-old women and men (n = 314). In both samples, extraversion and neuroticism were assessed by the 19-item short form of the Eysenck Personality Inventory. Physical activity was assessed with hip-worn tri-axial accelerometers and self-reported questions. Regression analyses were adjusted by age, BMI and education.

Results

In the middle-aged women, neuroticism was negatively associated with accelerometer-measured leisure time moderate-to-vigorous physical activity (β = −.07, p = .036) and with self-reported physical activity (β = −.08, p = .021), while extraversion was positively associated with self-reported physical activity (β = .10, p = .005). No associations of extraversion or neuroticism with physical activity were found in the older men and women. Older adults who scored high in neuroticism reported less physical activity than what was measured by accelerometers (β = −.12, p = .039). Extraversion was not associated with discrepancy between self-reported and accelerometer-measured leisure time physical activity in either sample.

Conclusions

Neuroticism was associated with lower leisure-time physical activity levels and extraversion with higher self-reported physical activity among middle-aged women. Neuroticism and extraversion were unrelated to physical activity among older adults, but older adults with high neuroticism seemed to underreport their physical activity level. The role of personality in the discrepancy between self-reported and device-based physical activity warrants further research.
Clinical characteristics of 276 hospitalized patients with coronavirus disease 2019 in Zengdu District, Hubei Province: a single-center descriptive study
Authors: Wei Yiping , Zeng Weibiao , Huang Xiangyun , Li Junyu , Qiu Xingting , Li Huadong , Liu Dinghua , He Zhaofeng , Yao Wenzhong , Huang Ping , Li Chao , Zhu Min , Zhong Chunlan , Zhu Xingen , Liu Jiansheng
Published: July 2020

Background

We aimed to report the epidemiological and clinical characteristics of hospitalized patients with coronavirus disease-19 (COVID-19) in Zengdu District, Hubei Province, China.

Methods

Clinical data on COVID-19 inpatients in Zengdu Hospital from January 27 to March 11, 2020 were collected; this is a community hospital in an area surrounding Wuhan and supported by volunteer doctors. All hospitalized patients with COVID-19 were included in this study. The epidemiological findings, clinical features, laboratory findings, radiologic manifestations, and clinical outcomes of these patients were analyzed. The patients were followed up for clinical outcomes until March 22, 2020. Severe COVID-19 cases include severe and critical cases diagnosed according to the seventh edition of China’s COVID-19 diagnostic guidelines. Severe and critical COVID-19 cases were diagnosed according to the seventh edition of China’s COVID-19 diagnostic guidelines.

Results

All hospitalized COVID-19 patients, 276 (median age: 51.0 years), were enrolled, including 262 non-severe and 14 severe patients. The proportion of patients aged over 60 years was higher in the severe group (78.6%) than in the non-severe group (18.7%, p < 0.01). Approximately a quarter of the patients (24.6%) had at least one comorbidity, such as hypertension, diabetes, or cancer, and the proportion of patients with comorbidities was higher in the severe group (85.7%) than in the non-severe group (21.4%, p < 0.01). Common symptoms included fever (82.2% [227/276]) and cough (78.0% [218/276]). 38.4% (106/276) of the patients had a fever at the time of admission. Most patients (94.9% [204/276]) were cured and discharged; 3.6% (10/276) deteriorated to a critical condition and were transferred to another hospital. The median COVID-19 treatment duration and hospital stay were 14.0 and 18.0 days, respectively.

Conclusions

Most of the COVID-19 patients in Zengdu had mild disease. Older patients with underlying diseases were at a higher risk of progression to severe disease. The length of hospital-stay and antiviral treatment duration for COVID-19 were slightly longer than those in Wuhan. This work will contribute toward an understanding of COVID-19 characteristics in the areas around the core COVID-19 outbreak region and serve as a reference for decision-making for epidemic prevention and control in similar areas.
Burden of Talaromyces marneffei infection in people living with HIV/AIDS in Asia during ART era: a systematic review and meta-analysis
Authors: Qin Yuanyuan , Huang Xiaojie , Chen Hui , Liu Xinchao , Li Yao , Hou Jianhua , Li Aixin , Yan Xiaofeng , Chen Yaokai
Published: July 2020

Background

Talaromyces marneffei (TM) is a dimorphic fungus mainly prevalent in Southeast Asian countries, which often causes disseminated life-threatening infection. TM infection often occurs in HIV/AIDS patients even in the antiretroviral therapy (ART) era. However, there has as yet, not been a systematic analysis of the prevalence of TM infection in HIV-infected populations in Asia.

Methods

In this study, we searched Pubmed, Embase, Web of Science, China National Knowledge Infrastructure (CNKI), and WanFang from inception to 21 November 2018 for studies reporting TM infection in people living with HIV/AIDS (PLWHA). Our meta-analysis included studies investigating the prevalence of TM infection in PLWHA. Reviews, duplicate studies, and animal studies were excluded. A random effects model was used to estimate pooled prevalence, and meta-regression analysis was conducted to explore potential factors for heterogeneity.

Results

159,064 patients with HIV infection in 33 eligible studies were included in our meta-analysis. The pooled prevalence of TM infection in PLWHA was 3.6%. Vietnam had the highest prevalence (6.4%), followed by Thailand (3.9%), China (3.3%), India (3.2%) and Malaysia (2.1%). In China, TM infection was most prevalent in South China (15.0%), while the burden in Southwest China was not very heavy (0.3%). CD4+ T-cell counts below 200 cells/mm3 contributed to the increased risk of TM infection in PLWHA (OR 12.68, 95%CI: 9.58–16.77). However, access to ART did not significantly decrease the risk of TM infection in PLWHA.

Conclusions

The burden of TM infection in Asia is heavy, and varies from region to region. PLWHA in lower latitude areas are more likely to suffer from TM infection. Optimization of diagnostic tools and universal screening for TM in vulnerable people to ensure early case detection and prompt antifungal treatment should be considered.
Risk factors for renal failure and short-term prognosis in patients with spontaneous intracerebral haemorrhage complicated by acute kidney injury
Authors: Zou Zhenhuan , Chen Siying , Li Yinshuang , Cai Jiawei , Fang Yulu , Xie Jingzhi , Fang Wenhua , Kang Dezhi , Xu Yanfang
Published: July 2020

Background

Although acute kidney injury (AKI) is a known risk factor for adverse clinical outcomes in patients with spontaneous intracerebral haemorrhage (SICH), little is known about the predisposing factors that contribute to renal failure and short-term prognosis in the setting of SICH already complicated by AKI. In this study, we aimed to identify the renal failure factors in SICH patents with AKI.

Methods

Five hundred forty-three patients with SICH complicated by differential severities of AKI who were admitted to the First Affiliated Hospital of Fujian Medical University from January 2016 to December 2018 were retrospectively studied. Logistic regression and receiver operator characteristic (ROC) curve analysis were performed to determine the best predictive and discriminative variables. Multivariate Cox regression analysis was performed to identify prognostic factors for renal recovery.

Results

In the multivariable adjusted model, we found that hypernatremia, metabolic acidosis, elevated serum creatine kinase, hyperuricaemia, proteinuria, and the use of colloids and diuretics were all independent risk factors for the occurrence of stage 3 AKI in SICH patients. The area under the curve analysis indicated that hypernatremia and hyperuricaemia were predictive factors for stage 3 AKI, and the combination of these two parameters increased their predictability for stage 3 AKI. Kaplan-Meier survival curves revealed that the renal recovery rate in SICH patients with stages 1 and 2 AKI was significantly higher than that in SICH patients with stage 3 AKI. Multivariate Cox regression analysis suggested that hypernatremia and the occurrence of stage 3 AKI are predictors for poor short-term renal recovery.

Conclusions

These findings illustrate that hypernatremia and hyperuricaemia represent potential risk factors for the occurrence of stage 3 AKI in SICH patients. Those patients with hypernatremia and stage 3 AKI were associated with a poor short-term prognosis in renal recovery.
Diffuse large B cell lymphoma in a preceding IgG4-related disease with kidney restricted lambda light chain expression: case report and literature review
Authors: Wang Hui , Su Tao , Kang Lei , Yang Li , Wang Suxia
Published: July 2020

Background

IgG4-related disease (IgG4-RD) is a newly classified but poorly understood immune-medicated systemic disease. It causes potential fibroinflammation in one or more organs, characterized by tumescent organs and marked IgG4-positive plasma cells infiltration in the affected tissues. There have been a few cases revealing close relationship between IgG4-RD and formation of B cell lymphoma. Diffuse large B cell lymphoma (DLBCL) and extranodal marginal zone lymphoma (EMZL) of mucosa-associated lymphoid tissue are the most common sub-types ever described, whereas the exact mechanism remain unclear.

Case presentation

We report a 64-year old Chinese male who presented chronic kidney disease and was initially diagnosed typical IgG4-RD. Pathological findings revealed there was restricted expression of lambda light chain in the kidney. There was also elevated uptake abnormality observed in 18F-FDG-PET/CT. Prednisone combined with oral cyclophosphamide helped the patient to get a partial remission of renal function and an obvious decrease of IgG4 level. However, he developed DLBCL 16 months after IgG4-RD diagnosis. The DLBCL is speculated to transform from a pre-existing but possible missed diagnosed EMZL.

Conclusions

Concurrent IgG4-RD with kidney-origin EMZL developing DLBCL has never been reported in the literature. Clinicians should keep in mind that lymphoma may occur in IgG4-RD. The mechanism of lymphomagenesis potential in IgG4-RD needs further study.
Recurrence and retreatment of anterior communicating artery aneurysms after endovascular treatment: a retrospective study
Authors: Jang Chang Ki , Chung Joonho , Lee Jae Whan , Huh Seung Kon , Son Nak-Hoon , Park Keun Young
Published: July 2020

Background

Surgical treatment of anterior communicating artery (Acom) aneurysm is challenging due to anatomic complexity. We aimed to describe our experiences with endovascular treatment (EVT) of Acom aneurysms, and to evaluate the incidence and risk factors of recurrence and retreatment.

Methods

The study comprised 260 patients who were treated at a single center between January 2010 and December 2018. Patients who had EVT, including stent-assisted coiling of Acom aneurysms, were included. All medical records were retrospectively reviewed. The incidence and risk factors of recurrence and retreatment were evaluated. Univariate and multivariate analysis were conducted.

Results

Recurrence of Acom aneurysms occurred in 38 (14.6%) patients. Mean follow-up duration was 27 months (range 1–110). Multivariate logistic regression indicated that ruptured aneurysm (odds ratio [OR] 3.55, P = 0.001), dome direction (anterior) (OR 3.86, P = 0.002), maximal diameter (OR 1.19, P = 0.02), and mean age (OR 0.96, P = 0.02) were independent risk factors for aneurysm recurrence. Of 38 cases of recurrence, 10 (3.8%) patients underwent retreatment. Ruptured aneurysm (OR 14.7, P = 0.004), maximal diameter (OR 1.56, P = 0.02), inflow angle (OR 1.04, P = 0.03), and Raymond-Roy classes II and III (OR 6.19, P = 0.03) showed significant relation to retreatment in multivariate logistic regression analysis.

Conclusions

In our study, recurrence rate of Acom aneurysms after EVT was 14.6%. Rupture, anterior dome direction, maximal diameter, and mean age were significantly associated with recurrence. Retreatment rate of recurrent Acom aneurysms after EVT was 3.8%. Patients with Acom aneurysms with large inflow, rupture, large size, or incomplete occlusion may be at a high risk of retreatment of recurring aneurysm.
Predictive value of prenatal ultrasound parameters for dichorionic growth discordant twins
Authors: Yuan Ting , Li Chao , Wang Yan yan , Wang Wei , Li Xue lan , Li Fen , Han Zhen
Published: July 2020

Background

Twin growth discordance was demonstrated to be a risk factor for adverse perinatal outcomes, and prenatal ultrasonographic methods were utilized to predict twin growth discordance to improve outcomes. The results currently reported are not consistent due to the poor unified parameters and gestational durations.

Methods

A total of 71 dichorionic twins with growth discordance and 346 dichorionic twins with normal growth were respectively included in the retrospective cohort study. The weight discordance of more than 25% was defined as a “growth discordant twin”. The clinical baseline information, maternal outcomes, twin birth weights and fetal growth parameters (which were measured by ultrasound) were compared between the two groups from early gestation to late gestation. Multiple logistic regression and receiver operating characteristic curves were adopted to evaluate the predictive value of the growth parameters.

Results

Compared with normal dichorionic twins, the clinical baseline conditions were similar in the twins those finally developed growth discordance. The fetal growth parameters and the deepest volume pocket of amniotic fluid in early and mid-pregnancy showed no obvious predictive values. The fetal growth parameters in late pregnancy showed predictive values, especially the discordance of estimated fetal weight (EFW) in the early third-trimester (P < 0.001, area under the curve, 0.822; the cut-off value, 20%; sensitivity, 66.67%; specificity, 91.30%; positive predictive value, 88.46%).

Conclusion

Two assessment approaches were suggested and adopted to predict twin growth discordance in the current study. Twin growth should be assessed longitudinally and dynamically. Normal twins may show growth imbalance in the early stage. The discordance of EFW in late pregnancy may be a useful indicator for a growth discordance of more than 25%, which is required further confirmation.
Correction to: Maternal complications in twin pregnancies in Finland during 1987–2014: a retrospective study
Authors: Rissanen Annu-Riikka S. , Jernman Riina M. , Gissler Mika , Nupponen Irmeli , Nuutila Mika E.
Published: July 2020

An amendment to this paper has been published and can be accessed via the original article.
Impact of implementation of a breech clinic in a tertiary hospital
Authors: Derisbourg S. , Costa E. , De Luca L. , Amirgholami S. , Bogne Kamdem V. , Vercoutere A. , Zhang W. H. , Alexander S. , Buekens P. M. , Englert Y. , Pintiaux A. , Daelemans C.
Published: July 2020

Background

The incidence of breech presentation in single pregnancies at term is between three to 5 %. In order to support eligible women in their choice of mode of delivery, a dedicated breech clinic with a care pathway was developed in December 2015 in a tertiary referral centre in Brussels.

The primary objective of this study was to evaluate the vaginal birth rate before and after the introduction of a dedicated breech clinic. The secondary objective was to compare the early neonatal outcomes before and after the breech clinic was introduced.

Methods

This was a single centre retrospective and prospective study. The inclusion criteria were term (from 37 weeks), singleton fetus and breech presentation at delivery. The exclusion criteria were suspected intrauterine growth restriction, severe fetal malformations and intrauterine fetal demise. We used a composite outcome as an indicator of neonatal morbidity and mortality.

Results

After the introduction of the breech clinic, we observed a significant increase in planned vaginal delivery from 7.4% (12/162) to 53.0% (61/115) (OR: 13.5; 95% CI: 6.7–27.0). The effective vaginal breech delivery rate (planned and unexpected) significantly increased from 4.3% (7/162) pre-implementation of breech clinic to 43.5% (50/115) post-implementation (OR: 17.0; 95% CI: 7.3–39.6). Neonatal outcomes were not statistically different between the before and after periods.

Conclusion

The introduction of a dedicated breech clinic has led to an increase in vaginal deliveries for breech babies without adversely affecting neonatal outcomes.