bluuebunny/crossref_metadata_2025_split huggingface dataset:
TOP2A deficit-induced abnormal decidualization leads to recurrent implantation failure via the NF-κB signaling pathway
Authors: Fu Huijia , Tan Wang , Chen Zhi , Ye Zi , Duan Yuhan , Huang Jiayu , Qi Hongbo , Liu Xiru 
Published: September 2022

Abstract
Background
Successful implantation is a complex process that is influenced by embryo quality, endometrial receptivity, immune factors, and the specific type of in vitro fertilization protocol used. DNA topoisomerase IIα (TOP2A) is a well-known protein involved in cell proliferation; however, its expression and effect on the endometrium in recurrent implantation failure (RIF) have not been fully elucidated.

Methods
The human endometrial tissues of healthy controls and patients with RIF were collected. A proteomic analysis was performed to evaluate the differentially expressed proteins between the RIF group and the fertile control group. The expression patterns of TOP2A in the human preimplantation endometrium of the patients with RIF were determined by immunohistochemical staining, Western blotting and qRT-PCR. TOP2A knockdown (sh-TOP2A) T-HESCs were generated using lentiviruses. The expression of TOP2A in T-HESCs was manipulated to investigate its role in decidualization. The TOP2A-related changes in decidualization were screened by mRNA sequencing in decidualized TOP2A knockdown and control T-HESCs and then confirmed by Western blotting and immunofluorescence staining. TOP2A-deficient mice were generated by injection of TOP2A-interfering adenovirus on GD2.5 and GD3.5.

Results
We performed a proteomic analysis of endometrial tissues to investigate the potential pathogenesis of RIF by comparing the patients with RIF and the matched controls and found that TOP2A might be a key protein in RIF. TOP2A is ubiquitously expressed in both stromal and glandular epithelial cells of the endometrium. The data indicate that TOP2A expression is significantly lower in the mid-secretory endometrium of women with RIF. TOP2A expression was downregulated under stimulation by 8-bromo-cAMP and MPA. Ablation of TOP2A resulted in upregulated expression of decidual biomarkers and morphological changes in the cells. Mechanistic analysis revealed that TOP2A regulates the NF-κB signaling pathway in decidualized T-HESCs. The TOP2A-deficient mice exhibited lower fetal weights.

Conclusions
Our findings revealed that abnormal expression of TOP2A affects decidualization and changes the “window of implantation”, leading to RIF. TOP2A participates in the processes of decidualization and embryo implantation, functioning at least in part through the NF-κB pathway. Regulating the expression of TOP2A in the endometrium may become a new strategy for the prevention and treatment of RIF.
Why Turner patients with 45, X monosomy should not be excluded from fertility preservation services
Authors: Schleedoorn MJ , Fleischer K , Braat DDM , Oerlemans AJM , van der Velden AAEM , Peek R 
Published: September 2022

AbstractIn this case report, we highlight the practical dilemma, i.e. to perform ovarian tissue cryopreservation surgery in a 45, X Turner Syndrome patient or not, by reporting on the presence of follicles in a 13-year-old female diagnosed with 45, X monosomy and an unmeasurable anti-müllerian hormone serum level. We compare our results with previous research, highlight the challenges we faced in this case and provide recommendations for daily practice. Hereby, we demonstrate that excluding certain subgroups of Turner Syndrome patients (e.g. monosomy patients, and/or girls with an anti-müllerian hormone level below 2.0 ng/l) may be premature, especially based on the current state of published research data. This practical example of a challenging dilemma in the counselling of Turner Syndrome patients for fertility preservation is of interest for clinicians involved in fertility counselling and Turner Syndrome care.
Farmers' perceptions of grassland management in Magui Khola basin of Madi Chitwan, Nepal
Authors: Barsila Shanker Raj , Joshi Niraj Prakash , Poudel Tuk Narayan , Devkota Badrika , Devkota Naba Raj , Chalise Dev Raj 
Published: September 2022

AbstractManagement of grassland is one of the important factors in traditional livestock farming systems. A survey was conducted in Madi of Chitwan Nepal to understand the perceptions of the farmers/graziers about grassland and feed management. For that, a well-prepared pretested set of questionnaires was used to collect information related to feeds and grassland ecological knowledge of the farmers. The questionnaire consisted of a set of questions about the household, factors affecting grassland productivity and alternative feeding resources. The survey revealed variations in household livestock ownerships, mostly for cattle (1–3) and buffalo (1–5), whilst goat ownership was similar across the survey sites. Grazing duration in months was similar in the study sites (about 7 months per year). Likewise, there was no conflict for grazing livestock, whereas it is believed that goat and buffalo have the same level of detrimental effect on grassland. A significantly higher number of respondents reported that flooding had a negative impact (p = 0.032) on grassland productivity. The Imperata cylindrica (L.) P. Beauv. locally known as Siru was a dominant forage species followed by the mosaics of Saccharum spontaneum L. locally known as Kaans in Nepali and Jhaksi in Tharu language, Saccharum bengalense Retz. locally known as Baruwa in Nepali and Narkat in the Tharu language. The respondents also pointed out that at least 2 to 3 years were needed for the recovery of grasslands when hampered by flooding and riverbank cut-off. Similar species dominated in the recovered grasslands over time of flooding. The seasonal fodder plantation was a major area of grassland improvement issue across the survey sites. There were high dependencies of the graziers on natural herbages and crop residues for feeding livestock in summer and winter, though the herbage species and preferences remained different. This study provides the primary background of the biophysical factors of grassland management for sustainable uses that require institutional support. The study further provides an insight into the need for implementation of the demand-based grassland technology interventions, possibly at a higher rate of adoption than the current local scale. However, the social-ecological consequences of grassland systems, i.e. the impact of climate change, herd dynamics and nutrient flow in vegetation and soil, have to be monitored in a long run.
Factors affecting the physical activity of healthcare workers of Iran University of Medical Sciences: a qualitative study
Authors: Hoveidamanesh Soodabeh , Tayefi Batool , Rampisheh Zahra , Khalili Narjes , Ramezani Mozhdeh 
Published: September 2022

AbstractBackgroundLow physical activity in adulthood is a major public health challenge. The majority of adults spend many hours each week at work, and workplace thus becomes a suitable location in which to promote health and implement physical activity programs. This qualitative study was conducted to identify the barriers and facilitators of worksite physical activity from the perspective of the employees of Iran University of Medical Sciences.MethodsIn this qualitative thematic analysis, five focus group discussions were held with the participation of 68 staff members of Iran University of Medical Sciences who had been selected by purposive sampling with maximum diversity.ResultsThe analysis of the data led to the identification of three general themes, including challenges and barriers, strategies, and incentives (facilitators). The four main categories of challenges and barriers included policy-making and legislation, organizational factors, structural factors, and personal factors. Most barriers identified by the participants were placed in the personal factors and organizational factors categories. The strategies for increasing physical activity were identified in the following three categories: Policy-making and legislation, organizational factors, and environmental factors. The majority of the strategies proposed were placed in the organizational factors and policy-making and legislation categories.ConclusionsIncreasing physical activity in the workplace as a strategy for the general promotion of physical activity in people requires interventions in different areas, especially with regard to organizational factors and policy-making and legislation.
Strain-level resolution and pneumococcal carriage dynamics by single-molecule real-time (SMRT) sequencing of the plyNCR marker: a longitudinal study in Swiss infants
Authors: Oyewole Oluwaseun Rume-Abiola , Latzin Philipp , Brugger Silvio D. , Hilty Markus 
Published: September 2022

Abstract
Background
Pneumococcal carriage has often been studied from a serotype perspective; however, little is known about the strain-specific carriage and inter-strain interactions. Here, we examined the strain-level carriage and co-colonization dynamics of Streptococcus pneumoniae in a Swiss birth cohort by PacBio single-molecule real-time (SMRT) sequencing of the plyNCR marker.

Methods
A total of 872 nasal swab (NS) samples were included from 47 healthy infants during the first year of life. Pneumococcal carriage was determined based on the quantitative real-time polymerase chain reaction (qPCR) targeting the lytA gene. The plyNCR marker was amplified from 214 samples having lytA-based carriage for pneumococcal strain resolution. Amplicons were sequenced using SMRT technology, and sequences were analyzed with the DADA2 pipeline. In addition, pneumococcal serotypes were determined using conventional, multiplex PCR (cPCR).

Results
PCR-based plyNCR amplification demonstrated a 94.2% sensitivity and 100% specificity for Streptococcus pneumoniae if compared to lytA qPCR. The overall carriage prevalence was 63.8%, and pneumococcal co-colonization (≥ 2 plyNCR amplicon sequence variants (ASVs)) was detected in 38/213 (17.8%) sequenced samples with the relative proportion of the least abundant strain(s) ranging from 1.1 to 48.8% (median, 17.2%; IQR, 5.8–33.4%). The median age to first acquisition was 147 days, and having ≥ 2 siblings increased the risk of acquisition.

Conclusion
The plyNCR amplicon sequencing is species-specific and enables pneumococcal strain resolution. We therefore recommend its application for longitudinal strain-level carriage studies of Streptococcus pneumoniae.
Immersive cultural heritage digital documentation and information service for historical figure metaverse: a case of Zhu Xi, Song Dynasty, China
Authors: Fan Zhanling , Chen Chongcheng , Huang Hongyu 
Published: September 2022

Abstract
Cultural heritage is closely linked with individual historical figures, who become a key focus for cultural tourism. Confucianism laid the foundation for much of Chinese civilization, and Confucius and Mencius have been studied extensively and have been influential in many parts of the world. Zhu Xi, the founder and master of Neo-Confucianism (an important part of the Mount Wuyi world cultural heritage), has received less research attention. With the big bang of the metaverse, research on the immersive cultural heritage digital documentation and information service for historical figures has become a new perspective. This paper presents a metaverse-based digital documentation framework for historical figures. This framework addresses the digitization of multimodal data for cultural heritage and adapts to the needs of metaverse presentations. For cultural research and cultural preservation, the paper has explored a combined contactless virtual and real cultural heritage experience system. For tourists, we intend to develop an immersive and holistic cultural tourism information service before, during and after the tour. In particular, we have also developed the Zhu Xi metaverse system. This is a step forward in the construction of a metaverse of historical figures.
Pro re nata versus fixed aflibercept regimen for neovascular age-related macular degeneration: a systematic review and meta-analysis
Authors: Victor Andi Arus , Putri Yan Martha 
Published: September 2022

Abstract
Background
Aflibercept is a relatively new anti-VEGF used to treat neovascular age-related macular degeneration (AMD). The purpose of this review is to evaluate the effect of pro re nata (PRN) and fixed regimen (bimonthly) of aflibercept injection for neovascular AMD on visual outcomes at 12 months of follow-up.

Methods
We conducted a systematic search in PubMed (MEDLINE), Embase, Scopus, and Web of Science, EBSCOHost, and ClinicalTrials.gov databases. Number of injections, number of hospital visit, mean change of best corrected visual acuity (BCVA), mean change of central macular thickness (CMT), and adverse effects of the included studies were evaluated. Meta-analysis were performed using Review Manager 5.4.

Results
Four studies were selected for meta-analyses synthesis (3 RCT, 1 retrospective study). A total of 197 eyes in PRN group and 241 eyes in the fixed group. All four studies favored fixed regimen with standardized mean difference of 0.56 (95% CI 0.36–0.75, I2 = 0%, p < 0.00001). There was no significant difference in CMT between both group with SMD of 0.17 (95% CI − 0.14–0.48, I2 = 26%, p = 0.28).

Conclusion
The present meta-analysis shows that bimonthly injection of aflibercept for neovascular AMD is superior compared to PRN injection, shown by better improvement in BCVA at 12 months follow-up. However, high risk of bias downgrade the certainty of evidence.
Arterial tortuosity syndrome (variants in SLC2A10 gene) in two pediatric patients in the same city of Spain: a case report
Authors: Palanca Arias Daniel , Ayerza Casas Ariadna , Clavero Adell Marcos , Gutiérrez Alonso Cristina , López Ramón Marta , Jiménez Montañés Lorenzo , Estaben Boldova Victoria , Izquierdo-Álvarez Silvia 
Published: September 2022

Abstract
Background
Arterial tortuosity syndrome (ATS) (OMIM #208050) is a very rare autosomal recessive connective tissue disease characterized by elongation, tortuosity, and predisposition of aneurysms formation in medium and large-caliber arteries, vascular dissection, and ischemic events. To date, approximately 100 patients have been reported carrying some of the fewer than 35 causal mutations in the SLC2A10 gene.

Case presentation
Here we present the clinical and molecular characterization of two new Spanish pediatric ATS patients from two unrelated families in the same city in a short period of time. Due to the knowledge of the pathology through the first case this pathology was suspected from birth in the second case, requesting the directed genetic study.

Conclusion
In addition to arterial tortuosity and connective tissue features, sequencing analysis revealed the homozygous and heterozygous Frameshift Deletion. Confirm diagnosis in the first few years of life is the most critical for possible life-threatening events and to offer adequate genetic counseling.
Utilization Trends, Cost, and Payments for Adult Spinal Deformity Surgery in Commercial and Medicare-Insured Populations
Authors: Wadhwa Harsh , Leung Christopher , Sklar Matthew , Ames Christopher P. , Veeravagu Anand , Desai Atman , Ratliff John , Zygourakis Corinna C. 
Published: September 2022

BACKGROUND:
Previous studies have characterized utilization rates and cost of adult spinal deformity (ASD) surgery, but the differences between these factors in commercially insured and Medicare populations are not well studied.

OBJECTIVE:
To identify predictors of increased payments for ASD surgery in commercially insured and Medicare populations.

METHODS:
We identified adult patients who underwent fusion for ASD, 2007 to 2015, in 20% Medicare inpatient file (n = 21 614) and MarketScan commercial insurance database (n = 38 789). Patient age, sex, race, insurance type, geographical region, Charlson Comorbidity Index, and length of stay were collected. Outcomes included predictors of increased payments, surgical utilization rates, total cost (calculated using Medicare charges and hospital-specific charge-to-cost ratios), and total Medicare and commercial payments for ASD.

RESULTS:
Rates of fusion increased from 9.0 to 8.4 per 10 000 in 2007 to 20.7 and 18.2 per 10 000 in 2015 in commercial and Medicare populations, respectively. The Medicare median total charges increased from $88 106 to $144 367 (compound annual growth rate, CAGR: 5.6%), and the median total cost increased from $31 846 to $39 852 (CAGR: 2.5%). Commercial median total payments increased from $58 164 in 2007 to $64 634 in 2015 (CAGR: 1.2%) while Medicare median total payments decreased from $31 415 in 2007 to $25 959 in 2015 (CAGR: −2.1%). The Northeast and Western regions were associated with higher payments in both populations, but there is substantial state-level variation.

CONCLUSION:
Rate of ASD surgery increased from 2007 to 2015 among commercial and Medicare beneficiaries. Despite increasing costs, Medicare payments decreased. Age, length of stay, and BMP usage were associated with increased payments for ASD surgery in both populations.
Sustained Sleep Restriction Reduces Resistance Exercise Quality and Quantity in Females
Authors: KNOWLES OLIVIA E. , DRINKWATER ERIC J. , ROBERTS SPENCER S. H. , ALEXANDER SARAH E. , ABBOTT GAVIN , GARNHAM ANDREW , LAMON SÉVERINE , AISBETT BRAD 
Published: September 2022

ABSTRACT

Introduction
Female athletes sleep less and report more sleep problems than their male counterparts. Inadequate sleep reduces maximal strength in male athletes; however, little is known about the impact of sleep restriction (SR) on the quantity and quality of resistance exercise performed by female athletes. This study investigated the effect of nine nights of moderate SR on repeated resistance exercise performance, hormonal responses, and perceived fatigue in females.

Methods
Ten healthy, resistance-trained, eumenorrheic females age 18–35 yr underwent nine nights of SR (5-h time in bed) and normal sleep (NS; ≥7-h time in bed) in a randomized, crossover fashion with a minimum 6-wk washout. Participants completed four resistance exercise sessions per trial, with blood samples collected before and after exercise. Exercise performance was assessed using volume load, reactive strength index, and mean concentric velocity with rating of perceived exertion recorded after exercise. Participants completed awakening saliva sampling and the Multi-component Training Distress Scale daily.

Results
Volume load decreased trivially (<1%, P < 0.05) with SR. Mean concentric velocity per set was slower during SR for the lower-body (up to 15%, P < 0.05), but not the upper-body, compound lifts. Intraset velocity loss was up to 7% greater during SR for back squats (P < 0.05). SR increased salivary cortisol area under the curve (by 42%), total training distress (by 84%), and session perceived exertion (by 11%).

Conclusions
Sustained SR reduces markers of resistance exercise quality (bar velocity) more than quantity (volume load) and increases perceived effort at the same relative intensity in resistance-trained females. Markers of exercise quality and internal load may be more sensitive than volume load, to advise coaches to the decline in lifting performance for female athletes experiencing SR.
Myocardial Fibrosis and Coronary Calcifications Caused by Endurance Exercise? Insights from Former Professional Cyclists
Authors: MACEIRA ALICIA , VALENZUELA PEDRO L. , SANTOS-LOZANO ALEJANDRO , GARCÍA-GONZÁLEZ MARÍA P. , ORTEGA LAURA HIGUERAS , DÍAZ-GONZALEZ LEONEL , BORAITA ARACELI , BARRANCO-GIL DAVID , LUCIA ALEJANDRO 
Published: September 2022

ABSTRACT

Purpose
This study aimed to compare the prevalence of myocardial fibrosis and coronary calcification in individuals who have performed very high levels of strenuous endurance exercise (SEE; former male professional cyclists) and sex/age-matched controls.

Methods
We used a retrospective cohort study design, where cases were former finishers of ≥1 Grand Tour (Tour de France, Giro d’ Italia or Vuelta a España) and controls were untrained individuals free of cardiovascular risk. All participants underwent cardiac magnetic resonance and cardiac computer tomography in the same center during years 2020–2021 to detect myocardial fibrosis (late gadolinium enhancement) and to quantify coronary calcium, respectively.

Results
Twenty-three cases (age, 46 ± 6 yr) and 59 controls (47 ± 7 yr) were studied. Fibrotic patches were evidenced only in the left ventricle, with a higher prevalence in cases (23% vs 2% in controls, P = 0.006). However, fibrotic tissue was nonischemic and of low extension (0.6% ± 0.4% of left ventricle mass), and no significant differences were found between cases and controls for native T1 or T2 values. No between-group differences were found for coronary calcium indicators, including Agatston or density scores. Subanalyses revealed no differences attending to whether cases were still performing regular SEE (n = 8) or not (n = 15) after professional retirement.

Conclusions
Although former professional cyclists seemed to show a greater prevalence of myocardial fibrosis, the extension of fibrotic tissue was minimal and no alterations were found in coronary calcification indicators. While keeping in mind the low sample size of the cases’ group, our results do not support evidence for major cardiac maladaptations with long-term exposure to SEE, at least in middle-age adults.
Spectrum of hemoglobinopathies with hematological and biochemical profile: A five year experience from a tertiary care hospital
Authors: Mansoor Neelum , Meraj Fatima , Shaikh Ameerah , Jabbar Naeem 
Published: September 2022

Background & Objective: Determination of hemoglobinopathies is significant for epidemiological studies. There is a need to identify burden of hemoglobinopathies at national level to lay down the foundation of appropriate screening and prevention programs. The present study aimed to evaluate the spectrum of hemoglobinopathies along with hematological and biochemical parameters in a tertiary care hospital.
Methods: This retrospective study included results of high performance liquid chromatography (HPLC) test from July 2015 - May 2020 in the department of Hematology, Indus Hospital and Health Network, Karachi, Pakistan. Data of all patients collected for red blood cell (RBC) indices, serum iron profile, and vitamin B12 and red cell folate levels. Diagnosis of hemoglobinopathies was done by an automatic analyzer ADAMS A1C Model No. HA-8180T Arkray/Japan.
Results: Among 2422 participants, hemoglobinopathy observed in 14.5% (n=352). Beta thalassemia trait is observed as the most common hemoglobinopathy (6.4%). Severe anemia (Hb=5.1-5.5 g/dl) found in beta thalassemia major (BTM) and HbE disease. Red cell parameters showed significant association with different types of hemoglobinopathies. Mean ferritin level was high in E-beta thalassemia (687.8±591.9) followed by sickle cell disease (615.7±543.5).
Conclusion: Apparently, overall frequency is static however, results of this study are not applicable to general population due to sample bias. Moreover, true figures are difficult to identify due to high incidence of iron deficiency anemia that masks the diagnosis by conventional techniques. Molecular characterization by DNA analysis is the most reliable tool of diagnosis. However, this method is not widely available in our country due to lack of expertise and cost issues.
doi: https://doi.org/10.12669/pjms.38.8.5935
How to cite this:Mansoor N, Meraj F, Shaikh A, Jabbar N. Spectrum of hemoglobinopathies with hematological and biochemical profile: A five year experience from a tertiary care hospital. Pak J Med Sci. 2022;38(8):---------. doi: https://doi.org/10.12669/pjms.38.8.5935
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.