bluuebunny/crossref_metadata_2025_split huggingface dataset:
Metabolic profile of women with PCOS in Brazil: a systematic review and meta-analysis
Authors: Spritzer Poli Mara , Ramos Ramon Bossardi , Marchesan Lucas Bandeira , de Oliveira Monica , Carmina Enrico 
Published: February 2021

Abstract
Background
Polycystic ovary syndrome (PCOS) is a common endocrine disease affecting women of reproductive age and associated with reproductive and metabolic dysfunction. Few studies are available regarding metabolic traits in Brazilian women with PCOS. The aim of this systematic review and meta-analysis was to summarize the available evidence regarding metabolic traits and comorbidities in Brazilian women with polycystic ovary syndrome (PCOS).

Methods
We systematically searched PubMed, Cochrane Central Register of Controlled Trials, and Embase for cross-sectional, case–control, or cohort studies focusing on populations of different regions from Brazil, published until July 31, 2019. Studies were selected if they reported PCOS diagnostic criteria. Studies without a control group were included if they presented relevant metabolic data.

Results
Of 4856 studies initially identified, 27 were included in the systematic review and 12 were included in the meta-analysis, for a total of 995 women with PCOS defined by Rotterdam criteria and 2275 controls from different regions of Brazil. Obesity, metabolic syndrome and IGT were prevalent, and standard mean differences for BMI (SMD 0.67, 95% CI, 0.29, 1.05), waist circumference (SMD 0.22, 95% CI 0.02, 0.41), systolic (SMD 0.66, 95% CI 0.30, 1.01) and diastolic blood pressure (SMD 0.55, 95% CI 0.24, 0.87), glucose (SMD 0.21, 95% CI 0.04, 0.38) and HOMA (SMD 0.78, 95% CI 0.52, 1.04) were significantly higher in Brazilian women with PCOS compared to controls. Lipid profile was more adverse in PCOS vs. non-PCOS women. Between-study heterogeneities were low/moderate for glucose and HOMA and moderate/high for the other variables.

Conclusions
The data of this systematic review and meta-analysis indicate that Brazilian women with PCOS have a worse metabolic profile than women without PCOS with no important regional differences. The prevalence of metabolic changes is intermediate in Brazil vs. other countries.
Genetic and environmental determinants of O6-methylguanine DNA-methyltransferase (MGMT) gene methylation: a 10-year longitudinal study of Danish twins
Authors: Wang Lijie , Mohammadnejad Afsaneh , Li Weilong , Lund Jesper , Li Shuxia , Clemmensen Signe , Timofeeva Maria , Soerensen Mette , Mengel-From Jonas , Christensen Kaare , Hjelmborg Jacob , Tan Qihua 
Published: February 2021

Abstract
Background
Epigenetic inactivation of O6-methylguanine DNA-methyltransferase (MGMT) is associated with increased sensitivity to alkylating chemotherapeutic agents in glioblastoma patients. The genetic background underlying MGMT gene methylation may explain individual differences in treatment response and provide a clue to a personalized treatment strategy. Making use of the longitudinal twin design, we aimed, for the first time, to estimate the genetic contributions to MGMT methylation in a Danish twin cohort.

Methods
DNA-methylation from whole blood (18 monozygotic (MZ) and 25 dizygotic (DZ) twin pairs) repeated 10 years apart from the Longitudinal Study of Aging Danish Twins (LSADT) were used to search for genetic and environmental contributions to DNA-methylation at 170 CpG sites of across the MGMT gene. Both univariate and bivariate twin models were applied. The intraclass correlations, performed on cross-sectional data (246 MZ twin pairs) from an independent study population, the Middle-Aged Danish Twins (MADT), were used to assess the genetic influence at each CpG site of MGMT for replication.

Results
Univariate twin model revealed twelve CpG sites showing significantly high heritability at intake (wave 1, h2 > 0.43), and seven CpG sites with significant heritability estimates at end of follow-up (wave 2, h2 > 0.5). There were six significant CpG sites, located at the gene body region, that overlapped among the two waves (h2 > 0.5), of which five remained significant in the bivariate twin model, which was applied to both waves. Within MZ pair correlation in these six CpGs from MADT demarks top level of genetic influence. There were 11 CpGs constantly have substantial common environmental component over the 10 years.

Conclusions
We have identified 6 CpG sites linked to the MGMT gene with strong and persistent genetic control based on their DNA methylation levels. The genetic basis of MGMT gene methylation could help to explain individual differences in glioblastoma treatment response and most importantly, provide references for mapping the methylation Quantitative Trait Loci (meQTL) underlying the genetic regulation.
Safety assessment of Lactobacillus reuteri IDCC 3701 based on phenotypic and genomic analysis
Authors: Lee Bo Som , Ban O-Hyun , Bang Won Yeong , Chae Seung A , Oh Sangki , Park Chanmi , Lee Minjee , Kim Soo-Jung , Yang Jungwoo , Jung Young Hoon 
Published: February 2021

Abstract
Purpose
Lactobacillus reuteri is one of the most largely studied human-commensal bacteria and widely used as a form of probiotics. Safety of probiotics has become increasingly important for human consumption due to increasing health-concerns in food industry. In this study, the safety of L. reuteri IDCC 3701 isolated from human breast milk was thoroughly investigated.

Methods
Whole-genome sequence analysis was performed to identify antibiotic resistance and toxigenicity of L. reuteri IDCC 3701. Phenotypic analysis such as minimal inhibitory concentration, β-hemolysis, extracellular enzyme activity, and the production of biological amines and L/D-lactate, was investigated. Finally, acute oral toxicity test was performed to access L. reuteri IDCC 3701 safety.

Results
Although multiple resistances to gentamicin and kanamycin were observed in L. reuteri IDCC 3701, it was revealed that these resistances are intrinsic and not transferable through whole-genome analysis. In addition, various phenotypic analysis concerning hemolysis, enzyme activity, and D-lactate production did not show any negative results. Although L. reuteri IDCC 3701 harbors a histidine decarboxylase gene, no biogenic amines were detected. Finally, L. reuteri IDCC 3701 exhibited no evidence of acute toxicity according to an in vivo study.

Conclusion
Our findings demonstrate that L. reuteri IDCC 3701 is considered to be safe for human consumption as probiotics based on the in silico, in vitro and in vivo studies.
Is social camouflaging associated with anxiety and depression in autistic adults?
Authors: Hull Laura , Levy Lily , Lai Meng-Chuan , Petrides K. V. , Baron-Cohen Simon , Allison Carrie , Smith Paula , Mandy Will 
Published: February 2021

Abstract
Background
There is inconsistent evidence for a clear pattern of association between ‘camouflaging’ (strategies used to mask and/or compensate for autism characteristics during social interactions) and mental health.

Methods
This study explored the relationship between self-reported camouflaging and generalised anxiety, depression, and social anxiety in a large sample of autistic adults and, for the first time, explored the moderating effect of gender, in an online survey.

Results
Overall, camouflaging was associated with greater symptoms of generalised anxiety, depression, and social anxiety, although only to a small extent beyond the contribution of autistic traits and age. Camouflaging more strongly predicted generalised and social anxiety than depression. No interaction between camouflaging and gender was found.

Limitations
These results cannot be generalised to autistic people with intellectual disability, or autistic children and young people. The sample did not include sufficient numbers of non-binary people to run separate analyses; therefore, it is possible that camouflaging impacts mental health differently in this population.

Conclusions
The findings suggest that camouflaging is a risk factor for mental health problems in autistic adults without intellectual disability, regardless of gender. We also identified levels of camouflaging at which risk of mental health problems is highest, suggesting clinicians should be particularly aware of mental health problems in those who score at or above these levels.
Combined venous and arterial thrombosis revealing underlying myeloproliferative disorder in a young patient: a case report
Authors: Benmalek Rime , Mechal Hanane , Zahidi Hatim , Mounaouir Karim , Arous Salim , Benouna Mohamed El Ghali , Drighil Abdenasser , Habbal Rachida 
Published: February 2021

Abstract
Background
Myeloproliferative neoplasms (MPNs) such as polycythemia Vera (PV) and Essential Thrombocythemia (ET) can be associated with a high risk of both venous and arterial thrombosis. However, the co-existence between these two complications is very rare and has never been described before, especially in young adults with no known history of MPNs.

Case presentation
We report the case of a 39 year-old Caucasian Moroccan male patient without cardiovascular risk factors (CVRF), who presented with acute chest pain. He also suffered from a severe headache since 2 weeks. Electrocardiogram (ECG) showed ST segment elevation myocardial infarction in the posterolateral leads. Cerebral Computed Tomography (CT) scan revealed subarachnoid hemorrhage (SAH), and cerebral Magnetic Resonance Angiography (MRA) found a Superior Sagittal Sinus Thrombosis (SSST). Routine blood tests showed raised hemoglobin and hematocrit in addition to leukocytosis and thrombocythemia. His coronary angiography revealed a thrombus in the ostial left circumflex artery (LCX). Further testing revealed positive Janus kinase 2 (JAK2) V617F mutation and low erythropoietin level, confirming the diagnosis of PV according to the 2008 World Health Organization (WHO) criteria. Antithrombotic and anti-ischemic treatments, in addition to myelosuppressive therapy with hydroxyurea, were initiated with a good clinical and biological evolution.

Conclusion
This case shows that MPNs are an important cause of thrombosis, especially in young patients with no other risk factors. Early diagnosis and appropriate management are fundamental before the occurrence of life-threatening complications that can sometimes present in unusual forms associating arterial and venous thrombotic events.
Understanding quality of analytics trade-offs in an end-to-end machine learning-based classification system for building information modeling
Authors: Ryu Minjung , Truong Hong-Linh , Kannala Matti 
Published: February 2021

AbstractOptimizing quality trade-offs in an end-to-end big data science process is challenging, as not only do we need to deal with different types of software components, but also the domain knowledge has to be incorporated along the process. This paper focuses on methods for tackling quality trade-offs in a common data science process for classifying Building Information Modeling (BIM) elements, an important task in the architecture, engineering, and construction industry. Due to the diversity and richness of building elements, machine learning (ML) techniques have been increasingly investigated for classification tasks. However, ML-based classification faces many issues, w.r.t. vast amount of data with heterogeneous data quality, diverse underlying computing configurations, and complex integration with industrial BIM tools, in an end-to-end BIM data analysis. In this paper, we develop an end-to-end ML classification system in which quality of analytics is considered as the first-class feature across different phases, from data collection, feature processing, training to ML model serving. We present our method for studying the quality of analytics trade-offs and carry out experiments with BIM data extracted from Solibri to demonstrate the automation of several tasks in the end-to-end ML classification. Our results have demonstrated that the quality of data, data extraction techniques, and computing configurations must be carefully designed when applying ML classifications for BIM in order to balance constraints of time, cost, and prediction accuracy. Our quality of analytics methods presents generic steps and considerations for dealing with such designs, given the time, cost, and accuracy trade-offs required in specific contexts. Thus, the methods could be applied to the design of end-to-end BIM classification systems using other ML techniques and cloud services.
Statistical analysis of ionospheric total electron content (TEC): long-term estimation of extreme TEC in Japan
Authors: Nishioka Michi , Saito Susumu , Tao Chihiro , Shiota Daikou , Tsugawa Takuya , Ishii Mamoru 
Published: February 2021

AbstractIonospheric total electron content (TEC) is one of the key parameters for users of radio-based systems, such as the Global Navigation Satellite System, high-frequency communication systems, and space-based remote sensing systems, since total ionospheric delay is proportional to TEC through the propagation path. It is important to know extreme TEC values in readiness for hazardous ionospheric conditions. The purpose of this study is to estimate extreme TEC values with occurrences of once per year, 10 years, and hundred years in Japan. In order to estimate the extreme values of TEC, a cumulative distribution function of daily TEC is derived using 22 years of TEC data from 1997 to 2018. The extreme values corresponding to once per year and 10 years are 90 and 110 TECU, respectively, in Tokyo, Japan. On the other hand, the 22-year data set is not sufficient to estimate the once-per-100-year value. Thus, we use the 62-year data set of manually scaled ionosonde data for the critical frequency of the F-layer (foF2) at Kokubunji in Tokyo. First, we study the relationship between TEC and foF2 for 22 years and investigate the slab thickness. Then the result is applied to the statistical distribution of foF2 data for 62 years. In this study, two methods are applied to estimate the extreme TEC value. In the first method, the distribution of slab thickness is artificially inflated to estimate extreme TEC values. In the second method, extreme slab thicknesses are applied to estimate extreme TEC values. The result shows that the once-per-100-year TEC is about 150–190 TECU at Tokyo. The value is also estimated to be 180–230 TECU in Kagoshima and 120–150 TECU in Hokkaido, in the southern and northern parts of Japan, respectively.
Exo70 intracellular redistribution after repeated mild traumatic brain injury
Authors: Lira Matías , Zamorano Pedro , Cerpa Waldo 
Published: February 2021

Abstract
Background
Exo70 is a subunit of the greater exocyst complex, a collection of proteins that oversees cellular membrane addition and polarized exocytosis by acting as a tethering intermediate between the plasma membrane and newly synthesized secretory vesicles. Although Exo70 function has been implicated in several developmental events including cytokinesis and the establishment of cell polarity, its role in neuropathologies is poorly understood. On the other hand, traumatic brain injury is the result of mechanical external force including contusion, fast acceleration, and expansive waves that produce temporal or permanent cognitive damage and triggers physical and psychosocial alterations including headache, memory problems, attention deficits, difficulty thinking, mood swings, and frustration. Traumatic brain injury is a critical health problem on a global scale, constituting a major cause of deaths and disability among young adults. Trauma-related cellular damage includes redistribution of N-methyl-D-aspartate receptors outside of the synaptic compartment triggering detrimental effects to neurons. The exocyst has been related to glutamate receptor constitutive trafficking/delivery towards synapse as well. This work examines whether the exocyst complex subunit Exo70 participates in traumatic brain injury and if it is redistributed among subcellular compartments

Results
Our analysis shows that Exo70 expression is not altered upon injury induction. By using subcellular fractionation, we determined that Exo70 is redistributed from microsomes fraction into the synaptic compartment after brain trauma. In the synaptic compartment, we also show that the exocyst complex assembly and its interaction with GluN2B are increased. Finally, we show that the Exo70 pool that is redistributed comes from the plasma membrane.

Conclusions
The present findings position Exo70 in the group of proteins that could modulate GluN2B synaptic availability in acute neuropathology like a traumatic brain injury. By acting as a nucleator factor, Exo70 is capable of redirecting the ensembled complex into the synapse. We suggest that this redistribution is part of a compensatory mechanism by which Exo70 is able to maintain GluN2B partially on synapses. Hence, reducing the detrimental effects associated with TBI pathophysiology.
Influence of Quaternary environmental changes on mole populations inferred from mitochondrial sequences and evolutionary rate estimation
Authors: Nakamoto Azusa , Harada Masashi , Mitsuhashi Reiko , Tsuchiya Kimiyuki , Kryukov Alexey P. , Shinohara Akio , Suzuki Hitoshi 
Published: February 2021

AbstractQuaternary environmental changes fundamentally influenced the genetic diversity of temperate-zone terrestrial animals, including those in the Japanese Archipelago. The genetic diversity of present-day populations is taxon- and region-specific, but its determinants are poorly understood. Here, we analyzed cytochrome b gene (Cytb) sequences (1140 bp) of mitochondrial DNA (mtDNA) to elucidate the factors determining the genetic variation in three species of large moles: Mogera imaizumii and Mogera wogura, which occur in central and southern mainland Japan (Honshu, Shikoku, and Kyushu), and Mogera robusta, which occurs on the nearby Asian continent. Network construction with the Cytb sequences revealed 10 star-shaped clusters with apparent geographic affinity. Mismatch distribution analysis showed that modes of pairwise nucleotide differences (τ values) were grouped into five classes in terms of the level, implying the occurrence of five stages for rapid expansion. It is conceivable that severe cold periods and subsequent warm periods during the late Quaternary were responsible for the population expansion events. The first and third oldest events included island-derived haplotypes, indicative of the involvement of land bridge formation between remote islands, hence suggesting an association of the ends of the penultimate (PGM, ca. 130,000 years ago) and last (LGM, ca. 15,000 years ago) glacial maxima, respectively. Since the third event was followed by the fourth, it is plausible that the termination of the Younger Dryas and subsequent abrupt warming ca. 11,500 years ago facilitated the fourth expansion event. The second event most likely corresponded to early marine isotope stage (MIS) 3 (ca. 53,000 years ago) when the glaciation and subsequent warming period were predicted to have influenced biodiversity. Utilization of the critical times of 130,000, 53,000, 15,000, and 11,500 years ago as calibration points yielded evolutionary rates of 0.03, 0.045, 0.10 and 0.10 substitutions/site/million years, respectively, showing a time-dependent manner whose pattern was similar to that seen in small rodents reported in our previous studies. The age of the fifth expansion event was calculated to be 5800 years ago with a rate of 0.10 substitutions/site/million years ago during the mid-Holocene, suggestive of the influence of humans or other unspecified reasons, such as the Jomon marine transgression.
Developmental fates of shark head cavities reveal mesodermal contributions to tendon progenitor cells in extraocular muscles
Authors: Kuroda Shunya , Adachi Noritaka , Kusakabe Rie , Kuratani Shigeru 
Published: February 2021

AbstractVertebrate extraocular muscles (EOMs) function in eye movements. The EOMs of modern jawed vertebrates consist primarily of four recti and two oblique muscles innervated by three cranial nerves. The developmental mechanisms underlying the establishment of this complex and the evolutionarily conserved pattern of EOMs are unknown. Chondrichthyan early embryos develop three pairs of overt epithelial coeloms called head cavities (HCs) in the head mesoderm, and each HC is believed to differentiate into a discrete subset of EOMs. However, no direct evidence of these cell fates has been provided due to the technical difficulty of lineage tracing experiments in chondrichthyans. Here, we set up an in ovo manipulation system for embryos of the cloudy catshark Scyliorhinus torazame and labeled the epithelial cells of each HC with lipophilic fluorescent dyes. This experimental system allowed us to trace the cell lineage of EOMs with the highest degree of detail and reproducibility to date. We confirmed that the HCs are indeed primordia of EOMs but showed that the morphological pattern of shark EOMs is not solely dependent on the early pattern of the head mesoderm, which transiently appears as tripartite HCs along the simple anteroposterior axis. Moreover, we found that one of the HCs gives rise to tendon progenitor cells of the EOMs, which is an exceptional condition in our previous understanding of head muscles; the tendons associated with head muscles have generally been supposed to be derived from cranial neural crest (CNC) cells, another source of vertebrate head mesenchyme. Based on interspecies comparisons, the developmental environment is suggested to be significantly different between the two ends of the rectus muscles, and this difference is suggested to be evolutionarily conserved in jawed vertebrates. We propose that the mesenchymal interface (head mesoderm vs CNC) in the environment of developing EOM is required to determine the processes of the proximodistal axis of rectus components of EOMs.
Simultaneous injection‐aspiration technique of air/fluid exchange for in‐office treatment of post‐operative vitreous cavity hemorrhage
Authors: Sanders Riley N. , Uwaydat Sami H. 
Published: February 2021

Abstract
Background
Post-operative vitreous cavity hemorrhage following pars plana vitrectomy is common. In-office drainage of the hemorrhage may be an option for some patients.

Technique
A new method for office-based air fluid exchange is described. A 30-gauge needle with a 10-mm syringe filled with sterile air is inserted 3.5-mm posterior to the limbus in the superotemporal quadrant. A second 30-gauge needle is inserted 3.5 mm from the limbus at 6 o’clock and connected to an empty 10-mm syringe with intravenous catheter tubing. The plunger of the air-filled syringe is pushed while the plunger of the empty syringe is pulled, so that the rate of fluid aspiration matches the rate of air injection.

Discussion
The method approximates conditions in pars plana vitrectomy, with balanced infusion and aspiration. Displaced vitreous cavity contents are collected in the aspiration syringe. The procedure is also cost effective.

Conclusion
The simultaneous syringe method is an easy, safe, and effective way of clearing post-operative vitreous cavity hemorrhage.