bluuebunny/crossref_metadata_2025_split huggingface dataset:
Comparison of evoked potentials across four related developmental encephalopathies
Authors: Saby Joni N. , Peters Sarika U. , Benke Timothy A. , Standridge Shannon M. , Swanson Lindsay C. , Lieberman David N. , Olson Heather E. , Key Alexandra P. , Percy Alan K. , Neul Jeffrey L. , Nelson Charles A. , Roberts Timothy P. L. , Marsh Eric D. 
Published: March 2023

Abstract
Background
Developing biomarkers is a priority for drug development for all conditions, but vital in the rare neurodevelopmental disorders where sensitive outcome measures are lacking. We have previously demonstrated the feasibility and tracking of evoked potentials to disease severity in Rett syndrome and CDKL5 deficiency disorder. The aim of the current study is to characterize evoked potentials in two related developmental encephalopathies, MECP2 duplication syndrome and FOXG1 syndrome, and compare across all four groups to better understand the potential of these measures to serve as biomarkers of clinical severity for the developmental encephalopathies.

Methods
Visual and auditory evoked potentials were acquired from participants with MECP2 duplication syndrome and FOXG1 syndrome across five sites of the Rett Syndrome and Rett-Related Disorders Natural History Study. A group of age-matched individuals (mean = 7.8 years; range = 1–17) with Rett syndrome, CDKL5 deficiency disorder, and typically-developing participants served as a comparison group. The analysis focused on group-level differences as well as associations between the evoked potentials and measures of clinical severity from the Natural History Study.

Results
As reported previously, group-level comparisons revealed attenuated visual evoked potentials (VEPs) in participants with Rett syndrome (n = 43) and CDKL5 deficiency disorder (n = 16) compared to typically-developing participants. VEP amplitude was also attenuated in participants with MECP2 duplication syndrome (n = 15) compared to the typically-developing group. VEP amplitude correlated with clinical severity for Rett syndrome and FOXG1 syndrome (n = 5). Auditory evoked potential (AEP) amplitude did not differ between groups, but AEP latency was prolonged in individuals with MECP2 duplication syndrome (n = 14) and FOXG1 syndrome (n = 6) compared to individuals with Rett syndrome (n = 51) and CDKL5 deficiency disorder (n = 14). AEP amplitude correlated with severity in Rett syndrome and CDKL5 deficiency disorder. AEP latency correlated with severity in CDKL5 deficiency disorder, MECP2 duplication syndrome, and FOXG1 syndrome.

Conclusions
There are consistent abnormalities in the evoked potentials in four developmental encephalopathies some of which correlate with clinical severity. While there are consistent changes amongst these four disorders, there are also condition specific findings that need to be further refined and validated. Overall, these results provide a foundation for further refinement of these measures for use in future clinical trials for these conditions.
kegg_pull: a software package for the RESTful access and pulling from the Kyoto Encyclopedia of Gene and Genomes
Authors: Huckvale Erik , Moseley Hunter N. B. 
Published: March 2023

Abstract
Background
The Kyoto Encyclopedia of Genes and Genomes (KEGG) provides organized genomic, biomolecular, and metabolic information and knowledge that is reasonably current and highly useful for a wide range of analyses and modeling. KEGG follows the principles of data stewardship to be findable, accessible, interoperable, and reusable (FAIR) by providing RESTful access to their database entries via their web-accessible KEGG API. However, the overall FAIRness of KEGG is often limited by the library and software package support available in a given programming language. While R library support for KEGG is fairly strong, Python library support has been lacking. Moreover, there is no software that provides extensive command line level support for KEGG access and utilization.

Results
We present kegg_pull, a package implemented in the Python programming language that provides better KEGG access and utilization functionality than previous libraries and software packages. Not only does kegg_pull include an application programming interface (API) for Python programming, it also provides a command line interface (CLI) that enables utilization of KEGG for a wide range of shell scripting and data analysis pipeline use-cases. As kegg_pull’s name implies, both the API and CLI provide versatile options for pulling (downloading and saving) an arbitrary (user defined) number of database entries from the KEGG API. Moreover, this functionality is implemented to efficiently utilize multiple central processing unit cores as demonstrated in several performance tests. Many options are provided to optimize fault-tolerant performance across a single or multiple processes, with recommendations provided based on extensive testing and practical network considerations.

Conclusions
The new kegg_pull package enables new flexible KEGG retrieval use cases not available in previous software packages. The most notable new feature that kegg_pull provides is its ability to robustly pull an arbitrary number of KEGG entries with a single API method or CLI command, including pulling an entire KEGG database. We provide recommendations to users for the most effective use of kegg_pull according to their network and computational circumstances.
Real-time evaluation of the independent analgesic efficacy of dexmedetomidine
Authors: Wang XiaoHua , Zhang SiYuan , Wang Chunxiu , Huang Yi , Wu Hao , Zhao Guoguang , Wang TianLong 
Published: March 2023

AbstractBackgroundDexmedetomidine has analgesic properties, but the intraoperative analgesic effect of dexmedetomidine is often masked by the effects of other general anaesthetics. Therefore, the degree to which it reduces intraoperative pain intensity remains unclear. The objective of this double-blind, randomised controlled trial was to evaluate the independent intraoperative analgesic efficacy of dexmedetomidine in real-time.MethodsThis single-centre study enrolled 181 patients who were hospitalised for below-knee orthopaedic surgeries between 19 January 2021 to 3 August 2021 were eligible for this is single-centre study. Peripheral neural block was performed on patients scheduled for below-knee orthopaedic surgeries. Patients were randomly assigned to the dexmedetomidine or midazolam group and were intravenously administered with 1.5 µg kg−1 h−1dexmedetomidine or 50 µg kg−1 h−1midazolam, respectively. The analgesic efficacy was evaluated using the real-time non-invasive nociception monitoring. The primary endpoint was the attainment rate of the nociception index target. The secondary endpoints included the occurrence of intraoperative hypoxemia, haemodynamic parameters, the consciousness index, electromyography and patient outcomes.ResultsOn Kaplan–Meier survival analysis, the defined nociception index target was attained in 95.45% and 40.91% of patients receiving dexmedetomidine and midazolam, respectively. Log-rank analysis revealed that the dexmedetomidine group attained the nociception index target significantly faster and the median attainment time of the nociception index target in the dexmedetomidine group was 15 min. Dexmedetomidine group was associated with a significantly lower incidence of hypoxemia. There was no significant difference in blood pressure between the dexmedetomidine and midazolam groups. Further, the dexmedetomidine group had a lower maximum visual analogue scale score and lower analgesic consumption postoperatively.ConclusionsDexmedetomidine has independent analgesia and systemically administered as an adjuvant agent has better analgesic efficacy than midazolam without severe side effects.Trial registrationclinicaltrial.gov Registry Identifier: NCT-04675372.Registered on 19/12 /2020.
Clinical trial participation predicts improved survival in older adults receiving allogeneic blood and marrow transplant
Authors: Thornton Clifton P. , Bandeen-Roche Karen , Dolinar Madeline , Roberts Lavigne Laken C. , George Lansey Dina , Jones Rick , Walston Jeremy , Varadhan Ravi , Hladek Melissa , Imus Philip 
Published: March 2023

Abstract
Background
Older adults represent a large oncologic demographic and are under-represented within oncology research despite constituting nearly two-thirds of the oncologic population in the United States. Because many social factors influence research participation, those who enroll in research do not reflect the oncology population at large, introducing bias and creating issue with external validity of studies. The same factors that influence study enrollment may also impact cancer outcomes, meaning that those who enroll in studies may already have an improved chance of cancer survival, further skewing results of these studies. This study evaluates characteristics that influence study enrollment in older adults and explore to what degree these factors may influence survival after allogeneic blood or marrow transplantation.

Methods
This retrospective comparison study evaluates 63 adults aged 60 and above undergoing allogenic transplantation at one institution. Patients who elected and declined enrollment in a non-therapeutic observational study were evaluated. Demographic and clinical characteristics between groups were compared and assessed as predictors of transplant survival, including decision to enroll in the study.

Results
Participants who chose to enroll in the parent study were not different with regard to gender, race/ethnicity, age, insurance type, donor age, and neighborhood income/poverty level compared to patients who were invited to participate but declined enrollment. The research participant group had higher proportion assessed as being fully active (23.8% vs. 12.7%, p = 0.034) and lower mean comorbidity scores (1.0 vs 2.47, p = 0.008). Enrollment in an observational study independently predicted transplant survival (HR = 0.316, 95% CI 0.12–0.82, p = 0.017). When controlling for relevant confounders of disease severity, comorbidities, and transplant age, enrolling in the parent study was associated with a lower hazards of death following transplant (HR = 0.302, 95% CI 0.10–0.87, p = 0.027).

Conclusions
Despite being demographically comparable, persons who enrolled in one non-therapeutic transplant study had significantly improved survivorship than those who did not participate in observational research. These findings suggest that there are unidentified factors that influence study involvement that may also impact disease survivorship, over-estimating outcomes from these studies. Results from prospective observational studies should be interpreted with the consideration that study participants have an improved chance of survival at baseline.
Stuttering as a signal of encephalopathy associated with toripalimab in a pancreatic ductal adenocarcinoma patient: a case report
Authors: He Jianping , Chen Xi , Cheng Ke , Lv Wanrui , Cao Dan , Li Zhiping 
Published: March 2023

Abstract
Background
Immune checkpoint inhibitor (ICI) combined with chemotherapy has exhibited promising results in small sample studies of pancreatic cancer patients. The efficacy of toripalimab, a programmed cell death protein 1 (PD-1) monoclonal antibody has been explored in the previous studies and it was established that immune-related adverse events (irAEs) associated with administration of this drug deserve proper attention and adequate management.

Case presentation
A 43-year-old female patient with advanced pancreatic ductal adenocarcinoma (PDAC) was treated with toripalimab in combination with gemcitabine and nab-paclitaxel (T-GA) as the first-line treatment. She developed immune-related encephalopathy with stuttering as the main clinical symptom and Magnetic resonance imaging (MRI) showed multiple cerebral white matter demyelination changes, concomitant with asymptomatic cardiac enzyme elevation and hypothyroidism. The symptoms resolved after the discontinuation of toripalimab and corticosteroid treatment.

Conclusions
Stuttering might be an early sign of neurotoxicity which can be easily neglected during the treatment. These findings provide guidance for the identification of these rare and occult neurological irAEs (n-irAEs) in the clinical practice.
Establishment of a single-center-based early prognostic scoring system for Guillain-Barré syndrome
Authors: Di Xiaomeng , Wang Jiawei , Li Lei , Liu Lei 
Published: March 2023

Abstract
Background
Previous studies have developed clinical prognostic models for Guillain-Barré syndrome including EGOS and mEGOS, they have good reliability and accuracy, but individual entries are poor. This study aims to establish a scoring system to predict the early prognosis, in order to provide additional treatment for patients with poor prognosis and shorten the length of hospital stay.

Methods
We retrospectively analyzed risk factors affecting the short-term prognosis of Guillain-Barré syndrome, and developed a scoring system for early determination of disease prognosis. Sixty two patients were divided into two groups based on the Hughes GBS disability score at discharge. Groups were compared for differences in gender, age at onset, antecedent infection, cranial nerve involvement, pulmonary infection, mechanical ventilation support, hyponatremia, hypoproteinemia, impaired fasting glucose, and peripheral blood neutrophil-to-lymphocyte ratio. Statistically significant factors were included in a multivariate logistic regression analysis, and a scoring system to predict the short-term prognosis was established based on the regression coefficients. The receiver operating characteristic curve of this scoring system was plotted, and the area under the ROC curve was calculated to assess the accuracy of the prediction model.

Results
Univariate analysis revealed that age at onset, antecedent infection, pneumonia, mechanical ventilation support, hypoalbuminemia, hyponatremia, impaired fasting glucose, and elevated peripheral blood neutrophil-to-lymphocyte ratio were risk factors for poor short-term prognosis. The above factors were included in the multivariate logistic regression analysis, and pneumonia, hypoalbuminemia, and hyponatremia could be used as independent predictors. The receiver operating characteristic curve was plotted with a calculated area under the ROC curve of 82.2% (95% CI 0.775—0.950, P < 0.0001). The best cut-off value for the model score was 2, with a sensitivity of 0.9091, a specificity of 0.7255, and a Youden index of 0.6346.

Conclusion
Pneumonia, hyponatremia, and hypoalbuminemia were independent risk factors for poorer short-term prognosis in patients with Guillain-Barré syndrome. The short-term prognosis scoring system of Guillain-Barré syndrome we constructed using these variables had some predictive value, and the short-term prognosis with quantitative scores of 2 or more was worse.
Unwinding the tangle of adolescent pregnancy and socio-economic functioning: leveraging administrative data from Manitoba, Canada
Authors: Jakubowski Aleksandra , Roos Leslie L. , Wall-Wieler Elizabeth 
Published: March 2023

Abstract
Background
Understanding the relationship between adolescent pregnancy and adult education and employment outcomes is complicated due to the endogeneity of fertility behaviors and socio-economic functioning. Studies exploring adolescent pregnancy have often relied on limited data to measure adolescent pregnancy (i.e. birth during adolescence or self-reports) and lack access to objective measures of school performance during childhood.

Methods
We use rich administrative data from Manitoba, Canada, to assess women’s functioning during childhood (including pre-pregnancy academic performance), fertility behaviors during adolescence (live birth, abortion, pregnancy loss, or no history of pregnancy), and adult outcomes of high school completion and receipt of income assistance. This rich set of covariates allows calculating propensity score weights to help adjust for characteristics possibly predictive of adolescent pregnancy. We also explore which risk factors are associated with the study outcomes.

Results
We assessed a cohort of 65,732 women, of whom 93.5% had no teen pregnancy, 3.8% had a live birth, 2.6% had abortion, and < 1% had a pregnancy loss. Women with a history of adolescent pregnancy were less likely to complete high school regardless of the outcome of that pregnancy. The probability of dropping out of high school was 7.5% for women with no history of adolescent pregnancy; after adjusting for individual, household, and neighborhood characteristics, the probability of dropping out of high school was 14.2 percentage points (pp) higher (95% CI 12.0-16.5) for women with live birth, 7.6 pp. higher (95% CI 1.5-13.7) for women with a pregnancy loss, and 6.9 pp. higher (95% CI 5.2-8.6) for women who had abortion. They key risk factors for never completing high school are poor or average school performance in 9th grade. Women who had a live births during adolescence were much more likely to receive income assistance than any other group in the sample. Aside from poor school performance, growing up in poor households and in poor neighborhoods were also highly predictive of receiving income assistance during adulthood.

Discussion
The administrative data used in this study enabled us to assess the relationship between adolescent pregnancy and adult outcomes after controlling for a rich set of individual-, household-, and neighborhood-level characteristics. Adolescent pregnancy was associated with higher risk of never completing high school regardless of the pregnancy outcome. Receipt of income assistance was significantly higher for women having a live birth, but only marginally higher for those who had a pregnancy that ended in loss or termination, underlining the harsh economic consequences of caring for a child as a young mother. Our data suggest that interventions targeting young women with poor or average school marks may be especially effective public policy priorities.
Association of disrespectful care after childbirth and COVID-19 exposure with postpartum depression symptoms- a longitudinal cohort study in Nepal
Authors: KC Ashish , Acharya Ankit , Bhattarai Pratiksha , Basnet Omkar , Shrestha Anisha , Rijal Garima , Skalkidou Alkistis 
Published: March 2023

Abstract
Background
The COVID-19 pandemic has led to unprecedented mental stress to women after childbirth. In this study, we assessed the association of disrespectful care after childbirth and COVID-19 exposure before/during labour with postpartum depression symptoms assessed at 7 and 45 days in Nepal.

Methods
A longitudinal cohort study was conducted in 9 hospitals of Nepal among 898 women. The independent data collection system was established in each hospital to collection information on disrespectful care after birth via observation, exposure to COVID-19 infection before/during labour and other socio-demographic via interview. The information on depressive symptoms at 7 and 45 days was collected using the validated Edinburg Postnatal Depression Scale (EPDS) tool. Multi-level regression was performed to assess the association of disrespectful care after birth and COVID-19 exposure with postpartum depression.

Result
In the study, 16.5% were exposed to COVID-19 before/during labour and 41.8% of them received disrespectful care after childbirth. At 7 and 45 days postpartum, 21.3% and 22.4% of women reported depressive symptoms respectively. In the multi-level analysis, at the 7th postpartum day, women who had disrespectful care and no COVID-19 exposure still had 1.78 higher odds of having depressive symptom (aOR, 1.78; 95% CI; 1.16, 2.72). In the multi-level analysis, at 45th postpartum day, women who had disrespectful care and no COVID-19 exposure had 1.37 higher odds of having depressive symptoms (aOR, 1.37; 95% CI; 0.82, 2.30), but not statistically significant.

Conclusion
Disrespectful care after childbirth was strongly associated with postpartum depression symptoms irrespective of COVID-19 exposure during pregnancy. Caregivers, even during the global pandemic, should continue to focus their attention for immediate breast feeding and skin-to-skin contact, as this might reduce the risk for depressive symptoms postpartum.
Dyslipidemia is associated with a poor prognosis of breast cancer in patients receiving neoadjuvant chemotherapy
Authors: Ma Youzhao , Lv Minhao , Yuan Peng , Chen Xiuchun , Liu Zhenzhen 
Published: March 2023

Abstract
Background
Lipid metabolism disorders may be involved in the occurrence and development of breast cancer. This study aimed to investigate the serum lipid changes during neoadjuvant chemotherapy for breast cancer and the effect of dyslipidemia on the prognosis of breast cancer patients.

Methods
We collected the data from 312 breast cancer patients who underwent surgery after receiving standard neoadjuvant therapy. χ2 test and T-test were employed to analyze the effect of chemotherapy on the serum lipid metabolism of patients. The effects of dyslipidemia on the disease-free survival (DFS) of patients with breast cancer were analyzed by χ2 test and COX regression analysis.

Results
A total of 56 out of 312 patients (17.9%) suffered from relapse. The baseline serum lipid level of the patients was significantly correlated with their age and body mass index (BMI) (p < 0.05). Chemotherapy increased the levels of triglycerides, total cholesterol, and low-density lipoprotein cholesterol, but decreased the level of high-density lipoprotein cholesterol (p < 0.001). Preoperative dyslipidemia was significantly associated with the axillary pCR rate (p < 0.05). COX regression analysis revealed that the full-course serum lipid level (HR = 1.896 [95%CI 1.069–3.360]; p = 0.029), N stage (HR = 4.416 [95%CI 2.348–8.308]; p < 0.001) and the total pCR rate (HR = 4.319 [95%CI 1.029–18.135]; p = 0.046) acted as prognostic factors affecting DFS in breast cancer. The relapse rate in patients with a high level of total cholesterol was higher than that in patients with a high level of triglycerides (61.9% vs 30.0%; p < 0.05).

Conclusions
Dyslipidemia deteriorated after chemotherapy. The full-course serum lipid level may thus serve as a blood marker for predicting breast cancer prognosis. Serum lipids should therefore be closely monitored in breast cancer patients throughout the treatment course, and patients with dyslipidemia should be treated in a timely manner.
A mosaic karyotype of 45,X/46,X,psu idic(Y)(q12) in a ten-year-old boy: integrating high-throughput sequencing with cytogenetic technique for precise diagnosis and genetic counselling
Authors: Yin Hui , Xie Hua , Zou Jizhen , Ye Xue , Liu Ying , He Cai , Shangguan Shaofang , Liu Haoran , Chen Xiaoli , Chen Xiaobo 
Published: March 2023

Abstract
Background
Isodicentric Y chromosome (idic(Y)) is the most commonly reported aberration of the human Y chromosome, which is an important cause of abnormal sexual development. The breakpoints of isodicentric Y chromosome mostly occurred in Yq11.2 and Yp11.3, however, the breakpoints in Yq12 are relatively rare.

Case presentation
We described a 10-year-old boy presenting hypospadias, micropenis and short stature, as well as unilateral cryptorchidism without normal testicular seminiferous tubules structure by biopsy. Whole exome sequencing didn’t find any pathogenic/likely pathogenic variants related to phenotypes of this patient. Copy number variation sequencing showed the duplication of whole Y chromosome. Subsequently, karyotyping and FISH analyses demonstrated his genetic diagnosis was mosaic 45,X[8]/46,X,psu idic(Y)(q12)[32], with the breakpoint in Yq12.

Conclusions
Our case proved that it would be beneficial to integrate high-throughput sequencing with cytogenetic technique for precise diagnosis, treatment and genetic counselling.