bluuebunny/crossref_metadata_2025_split huggingface dataset:
LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred
Authors: Mehta Roopa , Elías-López Daniel , Martagón Alexandro J. , Pérez-Méndez Oscar A , Sánchez Maria Luisa Ordóñez , Segura Yayoi , Tusié Maria Teresa , Aguilar-Salinas Carlos A. 
Published: July 2021

Abstract
Background
LCAT (lecithin-cholesterol acyltransferase) deficiency is characterized by two distinct phenotypes, familial LCAT deficiency (FLD) and Fish Eye disease (FED). This is the first systematic review evaluating the ethnic distribution of LCAT deficiency, with particular emphasis on Latin America and the discussion of three Mexican-Mestizo probands.

Methods
A systematic review was conducted following the PRISMA (Preferred Reporting Items for Systematic review and Meta-Analysis) Statement in Pubmed and SciELO. Articles which described subjects with LCAT deficiency syndromes and an assessment of the ethnic group to which the subject pertained, were included.

Results
The systematic review revealed 215 cases (154 FLD, 41 FED and 20 unclassified) pertaining to 33 ethnic/racial groups. There was no association between genetic alteration and ethnicity. The mean age of diagnosis was 42 ± 16.5 years, with fish eye disease identified later than familial LCAT deficiency (55 ± 13.8 vs. 41 ± 14.7 years respectively). The prevalence of premature coronary heart disease was significantly greater in FED vs. FLD. In Latin America, 48 cases of LCAT deficiency have been published from six countries (Argentina (1 unclassified), Brazil (38 FLD), Chile (1 FLD), Columbia (1 FLD), Ecuador (1 FLD) and Mexico (4 FLD, 1 FED and 1 unclassified). Of the Mexican probands, one showed a novel LCAT mutation.

Conclusions
The systematic review shows that LCAT deficiency syndromes are clinically and genetically heterogeneous. No association was confirmed between ethnicity and LCAT mutation. There was a significantly greater risk of premature coronary artery disease in fish eye disease compared to familial LCAT deficiency. In FLD, the emphasis should be in preventing both cardiovascular disease and the progression of renal disease, while in FED, cardiovascular risk management should be the priority. The LCAT mutations discussed in this article are the only ones reported in the Mexican- Amerindian population.
Predicting factors of central lymph node metastasis and BRAFV600E mutation in Chinese population with papillary thyroid carcinoma
Authors: Zhou Sheng Li , Guo Yan Ping , Zhang Lei , Deng Tao , Xu Zi Guang , Ding Chao , Sun Wen Cong , Zhao Yue Wu , Kong Ling Fei 
Published: July 2021

Abstract
Objective
The aim of this study was to evaluate the predictive factors of central lymph node metastasis (CLNM) and BRAFV600E mutation in Chinese patients with papillary thyroid carcinoma (PTC).

Methods
A total of 943 PTC patients who underwent thyroidectomy from 2014 to 2016 at our hospital were enrolled. Those patients were divided into PTC > 10 mm and papillary thyroid microcarcinoma (PTMC) groups by tumor size. The BRAFV600E mutation was examined by quantitative real-time PCR. Univariate and multivariate analyses were used to examine risk factors associated with CLNM and the BRAFV600E mutation.

Results
The frequency of CLNM was 53% (505/943). Both univariate and multivariate analyses suggested that the risk factors for CLNM in PTC patients were male, younger age, and larger tumor size (P < 0.05). Coexistent Hashimoto thyroiditis (HT) was an independent protective factor against CLNM when the tumor was > 10 mm (P = 0.006). Stratified analysis revealed that male, age ≤ 30 years, and tumor size > 5 mm were independent risk factors for CLNM. The BRAFV600E mutation rate was 85%. Multivariate logistic regression analysis revealed that age (P < 0.001) and coexistent HT (P = 0.005) were independent predictive factors of BRAFV600E mutation in PTC patients. Only age was a risk factor for the BRAFV600E mutation when the tumor was > 10 mm (P = 0.004). In the PTMC group, the BRAFV600E mutation was significantly correlated with tumor size (P < 0.001) and coexistent HT (P = 0.03). Stratified analysis revealed that age > 30 years and tumor size > 5 mm were independent predictive factors of BRAFV600E mutation. Furthermore, the incidence of CLNM was significantly higher in BRAFV600E mutation-positive patients (P = 0.009) when the tumor was ≤ 5 mm.

Conclusion
The factors male, younger age (≤ 30 years), large tumor size (> 5 mm), and coexistent HT are independent predicative factors for CLNM. The BRAFV600E mutation is associated with both large size and without HT in PTMC patients, age > 30 years in the PTC > 10 mm group. The BRAFV600E mutation was an independent risk factor for CLNM when the tumor was ≤ 5 mm. For optimal management, these features should be comprehensively evaluated to determine the initial surgical approach for PTC patients.
Time associations between U.S. birth rates and add-Ons to IVF practice between 2005–2016
Authors: Gleicher Norbert , Mochizuki Lyka , Barad David H. 
Published: July 2021

AbstractUntil 2010, the National Assisted Reproductive Technology Surveillance System (NASS) report, published annually by the Center for Disease Control and Prevention (CDC), demonstrated almost constantly improving live birth rates following fresh non-donor (fnd) in vitro fertilization (IVF) cycles. Almost unnoticed by profession and public, by 2016 they, however, reached lows not seen since 1996–1997. We here attempted to understand underlying causes for this decline. This study used publicly available IVF outcome data, reported by the CDC annually under Congressional mandate, involving over 90% of U.S. IVF centers and over 95% of U.S. IVF cycles. Years 2005, 2010, 2015 and 2016 served as index years, representing respectively, 27,047, 30,425, 21,771 and 19,137 live births in fnd IVF cycles. Concomitantly, the study associated timelines for introduction of new add-ons to IVF practice with changes in outcomes of fnd IVF cycles. Median female age remained at 36.0 years during the study period and center participation was surprisingly stable, thereby confirming reasonable phenotype stability. Main outcome measures were associations of specific IVF practice changes with declines in live IVF birth rates. Time associations were observed with increased utilization of “all-freeze” cycles (embryo banking), mild ovarian stimulation protocols, preimplantation genetic testing for aneuploidy (PGT-A) and increasing utilization of elective single embryo transfer (eSET). Among all add-ons, PGT-A, likely, affected fndIVF most profoundly. Though associations cannot denote causation, they can be hypothesis-generating. Here presented time-associations are compelling, though some of observed pregnancy and live birth loss may have been compensated by increases in frozen-thawed cycles and consequential pregnancies and live births not shown here. Pregnancies in frozen-thawed cycles, however, represent additional treatment cycles, time delays and additional costs. IVF live birth rates not seen since 1996–1997, and a likely continuous downward trend in U.S. IVF outcomes, therefore, mandate a reversal of current outcome trends, whatever ultimately the causes.
Giant cell tumour of the tendon sheath of the spine: clinical features and imaging findings
Authors: Zeng Piaoe , Zhang Annan , Song Le , Liu Jianfang , Yuan Huishu , Zhang Weifang 
Published: July 2021

Abstract
Objectives
To review the clinical and imaging data of spinal giant cell tumour of the tendon sheath (GCTTS) to improve our understanding of the disease.

Methods
The imaging findings, clinicopathological features and clinical outcomes of 14 patients with pathologically confirmed spinal GCTTS were analysed retrospectively.

Results
All 14 patients had a single spinal lesion, including ten cervical vertebra lesions and four thoracic vertebra lesions. CT scan findings: The lesions showed osteolytic bone destruction and were centred on the facet joint, eroding the surrounding bone with a paravertebral soft tissue mass. MRI scan findings: all the lesions manifested predominantly as isointense or hypointense on T1-weighted imaging (T1WI). On T2-weighted imaging (T2WI), eight lesions were hypointense, and four were isointense. The remaining two lesions showed slight hyperintensity. The enhanced scans of eight lesions showed moderate to marked homogeneous or heterogeneous enhancement. PET/CT findings: Among the five patients who underwent PET/CT, three presented lesions with well-defined, sclerotic borders, and the uptake of 18F-FDG was markedly increased. One lesion showed an ill-defined border and an uneven increase in 18F-FDG uptake with an SUVmax value of 8.9. A recurrent lesion was only found on PET/CT 45 months after surgery and the SUVmax was 5.1.

Conclusions
Spinal GCTTS is extremely rare. Osteolytic bone destruction in the area of the facet joint with a soft tissue mass and hypointensity on T2WI images are indicative of the spinal GCTTS. GCTTS shows high uptake of 18F-FDG, and PET/CT is helpful in detecting recurrent lesions.
CD90low glioma-associated mesenchymal stromal/stem cells promote temozolomide resistance by activating FOXS1-mediated epithelial-mesenchymal transition in glioma cells
Authors: Xue Bing-zhou , Xiang Wei , Zhang Qing , Wang Hao-fei , Zhou Yu-jie , Tian Han , Abdelmaksou Ahmed , Xue Jian , Sun Min-xuan , Yi Dong-ye , Xiong Nan-xiang , Jiang Xiao-bing , Zhao Hong-yang , Fu Peng 
Published: July 2021

Abstract
Background
The tumour microenvironment contributes to chemotherapy resistance in gliomas, and glioma-associated mesenchymal stromal/stem cells (gaMSCs) are important stromal cell components that play multiple roles in tumour progression. However, whether gaMSCs affect chemotherapy resistance to the first-line agent temozolomide (TMZ) remains unclear. Herein, we explored the effect and mechanism of gaMSCs on resistance to TMZ in glioma cells.

Methods
Human glioma cells (cell line U87MG and primary glioblastoma cell line GBM-1) were cultured in conditioned media of gaMSCs and further treated with TMZ. The proliferation, apoptosis and migration of glioma cells were detected by Cell Counting Kit-8 (CCK-8), flow cytometry and wound-healing assays. The expression of FOXS1 in glioma cells was analysed by gene microarray, PCR and Western blotting. Then, FOXS1 expression in glioma cells was up- and downregulated by lentivirus transfection, and markers of the epithelial-mesenchymal transformation (EMT) process were detected. Tumour-bearing nude mice were established with different glioma cells and treated with TMZ to measure tumour size, survival time and Ki-67 expression. Finally, the expression of IL-6 in gaMSC subpopulations and its effects on FOXS1 expression in glioma cells were also investigated.

Results
Conditioned media of gaMSCs promoted the proliferation, migration and chemotherapy resistance of glioma cells. The increased expression of FOXS1 and activation of the EMT process in glioma cells under gaMSC-conditioned media were detected. The relationship of FOXS1, EMT and chemotherapy resistance in glioma cells was demonstrated through the regulation of FOXS1 expression in vitro and in vivo. Moreover, FOXS1 expression in glioma cells was increased by secretion of IL-6 mainly from the CD90low gaMSC subpopulation.

Conclusions
CD90low gaMSCs could increase FOXS1 expression in glioma cells by IL-6 secretion, thereby activating epithelial-mesenchymal transition and resistance to TMZ in glioma cells. These results indicate a new role of gaMSCs in chemotherapy resistance and provide novel therapeutic targets.
Human umbilical cord-derived mesenchymal stem cells improve the function of liver in rats with acute-on-chronic liver failure via downregulating Notch and Stat1/Stat3 signaling
Authors: He Yulin , Guo Xingrong , Lan Tingyu , Xia Jianbo , Wang Jinsong , Li Bei , Peng Chunyan , Chen Yue , Hu Xiang , Meng Zhongji 
Published: July 2021

Abstract
Background
Effective treatments for acute-on-chronic liver failure (ACLF) are lacking. Human umbilical cord-derived mesenchymal stem cells (hUC-MSCs) have been applied in tissue regeneration and repair, acting through paracrine effects, cell fusion, and actual transdifferentiation. The present study was designed to investigate the therapeutic potential of hUC-MSCs in acute-on-chronic liver injury (ACLI) and ACLF rat models.

Methods
Wistar rats aged 6 weeks were intraperitoneally administered porcine serum (PS) at a dose of 0.5 mL twice per week for 11 weeks to generate an immune liver fibrosis model. After 11 weeks, rats with immune liver fibrosis were injected intravenously with lipopolysaccharide (LPS) to induce an ACLI model or combined LPS and D-galactosamine (D-GalN) to induce an ACLF model. The rats with ACLI or ACLF were injected intravenously with 2×106 hUC-MSCs, 4×106 hUC-MSCs, or 0.9% sodium chloride as a control. The rats were sacrificed at 1, 2, 4, and 6 weeks (ACLI rats) or 4, 12, and 24 h (ACLF rats). The blood and liver tissues were collected for biochemical and histological investigation.

Results
The application of hUC-MSCs in rats with ACLI and ACLF led to a significant decrease in the serum levels of ALT, AST, TBil, DBil, ALP, ammonia, and PT, with ALB gradually returned to normal levels. Inflammatory cell infiltration and collagen fiber deposition in liver tissues were significantly attenuated in ACLI rats that received hUC-MSCs. Inflammatory cell infiltration and apoptosis in liver tissues of ACLF rats that received hUC-MSCs were significantly attenuated. Compared with those in the rats that received 0.9% sodium chloride, a significant reduction in proinflammatory cytokine levels and elevated serum levels of hepatocyte growth factor (HGF) were found in ACLF rats that received hUC-MSCs. Furthermore, Notch, IFN-γ/Stat1, and IL-6/Stat3 signaling were inhibited in ACLI/ACLF rats that received hUC-MSCs.

Conclusions
hUC-MSC transplantation can improve liver function, the degree of fibrosis, and liver damage and promote liver repair in rats with ACLI or ACLF, mediated most likely by inhibiting Notch signaling and reversing the imbalance of the Stat1/Stat3 pathway.
A focus on allogeneic mesenchymal stromal cells as a versatile therapeutic tool for treating multiple sclerosis
Authors: Shokati Ameneh , Naser Moghadasi Abdorreza , Nikbakht Mohsen , Sahraian Mohammad Ali , Mousavi Seyed Asadollah , Ai Jafar 
Published: July 2021

AbstractMultiple sclerosis (MS) is a central nervous system (CNS) chronic illness with autoimmune, inflammatory, and neurodegenerative effects characterized by neurological disorder and axonal loss signs due to myelin sheath autoimmune T cell attacks. Existing drugs, including disease-modifying drugs (DMD), help decrease the intensity and frequency of MS attacks, inflammatory conditions, and CNS protection from axonal damage. As they cannot improve axonal repair and show side effects, new therapeutic options are required. In this regard, due to their neuroprotection properties, immunomodulatory effects, and the ability to differentiate into neurons, the transplantation of mesenchymal stromal cells (MSCs) can be used for MS therapy. The use of adipose-derived MSCs (AdMSCs) or autologous bone marrow MSCs (BMSCs) has demonstrated unexpected effects including the invasive and painful isolation method, inadequate amounts of bone marrow (BM) stem cells, the anti-inflammatory impact reduction of AdMSCs that are isolated from fat patients, and the cell number and differentiation potential decrease with an increase in the age of BMSCs donor. Researchers have been trying to search for alternate tissue sources for MSCs, especially fetal annexes, which could offer a novel therapeutic choice for MS therapy due to the limitation of low cell yield and invasive collection methods of autologous MSCs. The transplantation of MSCs for MS treatment is discussed in this review. Finally, it is suggested that allogeneic sources of MSCs are an appealing alternative to autologous MSCs and could hence be a potential novel solution to MS therapy.
Multi-source and multi-fault condition monitoring based on parallel factor analysis and sequential probability ratio test
Authors: Yang Liu , Chen Hanxin , Ke Yao , Li Menglong , Huang Lang , Miao Yuzhuo 
Published: July 2021

AbstractThe monitoring of mechanical equipment systems contains an increasing number of complex content, expanding from traditional time, and frequency information to three-dimensional data of the time, space, and frequency information, and even higher-dimensional data containing subjects, experimental conditions. For high-dimensional data analysis, traditional decomposition methods such as Hilbert transform, fast Fourier transformation, and Gabor transformation not only lose the integrity of the data, but also increase the amount of calculation and introduce a lot of redundant information. The phenomenon of feature coupling, aliasing, and redundancy between the mechanical multi-source data signals will cause the inaccuracy of the evaluation, diagnosis, and prediction of industrial production operation status. The analysis of the three-way tensor composed of channel, frequency, and time is called parallel factor analysis (PARAFAC). The properties between the parallel factor analysis results and the input signals are studied through simulation experiments. Parallel factor analysis is used to decompose the third-order tensor composed of channel-time-frequency after continuous wavelet transformation of vibration signal into channel, time, and frequency characteristics. Multi-scale parallel factor analysis successfully extracted non-linear multi-dimensional dynamic fault characteristics by generating the spatial, spectral, time-domain signal loading value and three-dimensional fault characteristic expression. In order to verify the effectiveness of the space, frequency, and time domain signal loading values of the fault characteristic factors generated by the centrifugal pump system after parallel factor analysis, the characteristic factors obtained after parallel factor analysis are used as the SPRT test sequence for identification and verification. The results indicate that the method proposed in this article improves the measurement accuracy and intelligence of mechanical fault detection.
Nesting attempts and success of Arctic-breeding geese can be derived with high precision from accelerometry and GPS-tracking
Authors: Schreven Kees H. T. , Stolz Christian , Madsen Jesper , Nolet Bart A. 
Published: July 2021

AbstractSensors, such as accelerometers, in tracking devices allow for detailed bio-logging to understand animal behaviour, even in remote places where direct observation is difficult. To study breeding in birds remotely, one needs to understand how to recognise a breeding event from tracking data, and ideally validate this by direct observation. We tagged 49 adult female pink-footed geese (Anser brachyrhynchus) with transmitter neckbands in Finland in spring of 2018 and 2019, and in Svalbard in summer 2018, and validated inferences from tracking by field observations of nesting sites and family status in 2018–2020 (54 spring–summer tracks). We estimated nesting locations by taking the median coordinates of GPS-fixes at which the goose was motionless (overall dynamic body acceleration, ODBA  <  1) on days with a daily median ODBA  <  1, which approached the real nesting locations closely (within 1.6–3.7 m,n =  6). The start of nesting was defined as the first day on which the goose spent  >  75% of time within 50 m of the nest, because nest site attendances steeply increased within one day to above this threshold. Nesting duration (number of consecutive days with  >  75% nest site attendance) ranged between 3 and 44 days (n =  28), but was 30–34 days in confirmed successful nests (n = 9). The prolonged nesting of 39–44 days (n = 3) suggested incubation on unhatchable egg(s). Nest losses before hatching time occurred mostly in day 3–10 and 23–29 of nesting, periods with an increased frequency of nest site recesses. As alternative method, allowing for non-simultaneous GPS and accelerometer data, we show that nesting days were classified with 98.6% success by two general characteristics of breeding: low body motion (daily median ODBA) and low geographic mobility (daily SD of latitude). Median coordinates on nesting days approached real nest sites closely (within 0.8–3.6 m,n =  6). When considering only geographic mobility (allowing for GPS data only) nesting locations were similarly accurate, but some short nesting attempts were undetected and non-breeding tracks misclassified. We show that nesting attempts, as short as 3 days, and nesting success can be detected remotely with good precision using GPS-tracking and accelerometry. Our method may be generalised to other (precocial) bird species with similar incubation behaviour.
Review of eating disorders and oxytocin receptor polymorphisms
Authors: Burmester Victoria , Nicholls Dasha , Buckle Alexis , Stanojevic Boban , Crous-Bou Marta 
Published: July 2021

Abstract
Background and aims
Oxytocin, a nine amino acid peptide synthesised in the hypothalamus, has been widely recognised for its role in anxiolysis, bonding, sociality, and appetite. It binds to the oxytocin receptor (OXTR)—a G-protein coupled receptor—that is stimulated by the actions of oestrogen both peripherally and centrally. Studies have implicated OXTR genotypes in conferring either a risk or protective effect in autism, schizophrenia, and eating disorders (ED). There are numerous DNA variations of this receptor, with the most common DNA variation being in the form of the single nucleotide polymorphisms (SNPs). Two OXTR SNPs have been most studied in relation to ED: rs53576 and rs2254298. Each SNP has the same allelic variant that produces genotypes AA, AG, and GG. In this critical review we will evaluate the putative role of rs53576 and rs2254298 SNPs in ED. Additionally, this narrative review will consider the role of gene-environment interactions in the development of ED pathology.

Findings
The OXTR SNPs rs53576 and rs2254298 show independent associations between the A allele and restrictive eating behaviours. Conversely, the G allele of the OXTR rs53576 SNP is associated with binging behaviours, findings that were also evident in neuroanatomy. One study found the A allele of both OXTR SNPs to confer risk for more severe ED symptomatology while the G allele conferred some protective effect. An interaction between poor maternal care and rs2254298 AG/AA genotype conferred increased risk for binge eating and purging in women.

Conclusions
Individual OXTR SNP are unlikely in themselves to explain complex eating disorders but may affect the expression of and/or effectiveness of the OXTR. A growing body of G x E work is indicating that rs53576G homozygosity becomes disadvantageous for later mental health under early adverse conditions but further research to extend these findings to eating pathology is needed. The GWAS approach would benefit this area of knowledge.