bluuebunny/crossref_metadata_2025_split huggingface dataset:
D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia
Authors: Werner Kelly M. , Cox Allison J. , Qian Emily , Jain Preti , Ji Weizhen , Tikhonova Irina , Castaldi Christopher , Bilguvar Kaya , Knight James , Ferdinandusse Sacha , Fawaz Rima , Jiang Yong‐Hui , Gallagher Patrick G. , Bizzarro Matthew , Gruen Jeffrey R. , Bale Allen , Zhang Hui 
Published: October 2021

AbstractD‐bifunctional protein (DBP) deficiency is a rare, autosomal recessive peroxisomal enzyme deficiency resulting in a high burden of morbidity and early mortality. Patients with DBP deficiency resemble those with a severe Zellweger phenotype, with neonatal hypotonia, seizures, craniofacial dysmorphisms, psychomotor delay, deafness, blindness, and death typically within the first 2 years of life, although patients with residual enzyme function can survive longer. The clinical severity of the disease depends on the degree of enzyme deficiency. Loss‐of‐function variants typically result in no residual enzyme activity; however, splice variants may result in protein with residual function. We describe a full‐term newborn presenting with hypotonia, seizures, and unexplained hypoglycemia, who was later found to have rickets at follow up. Rapid whole genome sequencing identified two HSD17B4 variants in trans; one likely pathogenic variant and one variant of uncertain significance (VUS) located in the polypyrimidine tract of intron 13. To determine the functional consequence of the VUS, we analyzed RNA from the patient's father with RNA‐seq which showed skipping of Exon 14, resulting in a frameshift mutation three amino acids from the new reading frame. This RNA‐seq analysis was correlated with virtually absent enzyme activity, elevated very‐long‐chain fatty acids in fibroblasts, and a clinically severe phenotype. Both variants are reclassified as pathogenic. Due to the clinical spectrum of DBP deficiency, this provides important prognostic information, including early mortality. Furthermore, we add persistent hypoglycemia to the clinical spectrum of the disease, and advocate for the early management of fat‐soluble vitamin deficiencies to reduce complications.
Non‐native marine species risk screening and vector analysis to inform conservation management in the southern Caribbean
Authors: Tidbury Hannah J. , Copp Gordon H. , Davison Phil I. , Olsson Karin , Graham Jennifer A. , Hill Tom W. , Vilizzi Lorenzo , Stebbing Paul D. 
Published: October 2021

Abstract

Marine protected areas of the Caribbean islands are at high risk of non‐native species (NNS) introductions and impacts that may threaten conservation goals. To inform conservation management of these protected areas, the present study identified potentially‐invasive NNS as well as introduction vectors and pathways for the southern Caribbean islands of Grenada, and St Vincent and the Grenadines.
The activities associated with the introduction vectors and pathways relevant to priority NNS were assessed to highlight locations within the risk assessment area at elevated risk of NNS introduction and spread.
The preliminary NNS list comprised 223 species of which 10 were screened using the Aquatic Species Invasiveness Screening Kit, which generated scores indicating moderate‐to‐high risk (18–51) of being invasive in the risk assessment area, based on generalized global threshold scores. The ports of Kingston (St Vincent) and St George’s (Grenada) were associated with the greatest shipping and boating activity, indicating elevated risk of NNS introductions by way of these vectors. Coastal areas in the south of the risk assessment area were associated with highest risk of introduction of NNS by natural dispersal.
The evidence presented in this study provides a strong basis upon which to develop and implement risk‐based biosecurity and monitoring programmes to protect and conserve this region’s marine protected areas.
Effects of transcutaneous auricular vagus nerve stimulation on brain functional connectivity of medial prefrontal cortex in patients with primary insomnia
Authors: Zhang Shuai , He Jia‐Kai , Meng Hong , Zhao Bin , Zhao Ya‐Nan , Wang Yu , Li Shao‐Yuan , Wang Lei , Wu Mo‐Zheng , Chen Yu , Xiao Xue , Hou Li‐Wei , Fang Ji‐Liang , Rong Pei‐Jing 
Published: October 2021

AbstractAs a representative of acupuncture and nonpharmaceutical therapy, auricular acupuncture has been widely for the treatment of insomnia. Transcutaneous auricular vagus nerve stimulation (taVNS) is a combination of auricular point stimulation and vagus nerve stimulation. It can not only treat primary insomnia effectively, but also is noninvasive, painless, portable and economical. The medial prefrontal cortex (mPFC) is a core region of default mode network (DMN), which is important for maintenance of sleep. However, the mechanism of taVNS in alleviating primary insomnia (PI) remains to be clarified. In this study, we found that taVNS could not only effectively reduce the score of Pittsburgh Sleep Quality Index, but also decreased functional connection (FC) between the left mPFC and bilateral dorsal anterior cingulate gyrus as well as FC between the right mPFC and the occipital cortex in patients with PI. Furthermore, the decrease in FC was positively correlated with the decline of sleep index score. Therefore, we proposed that treatment with taVNS can improve sleep quality and prolong sleep duration in patients with PI by reducing FC within DMN, FC between DMN and salience network, as well as FC between DMN and the occipital cortex. This may be one of mechanisms of taVNS in treating PI.
Discovering emerging topics in textual corpora of galleries, libraries, archives, and museums institutions
Authors: Candela Gustavo , Carrasco Rafael C. 
Published: October 2021

AbstractFor some decades now, galleries, libraries, archives, and museums (GLAM) institutions have provided access to information resources in digital format. Although some datasets are openly available, they are often not used to their full potential. Recently, approaches such as the so‐called Labs within GLAM institutions promote the reuse of digital collections in innovative and inspiring ways. In this article, we explore a straightforward computational procedure to identify emerging topics in periodical materials such as newspapers, bibliographies, and journals. The method is illustrated in three use cases based on public digital collections. This type of tools are expected to promote further usage by researchers of the digital collections.
Job loss predicts worsening depressive symptoms for young adults with autism: A COVID‐19 natural experiment
Authors: Taylor Julie Lounds , Adams Ryan E. , Pezzimenti Florencia , Zheng Shuting , Bishop Somer L. 
Published: October 2021

AbstractAdults with autism spectrum disorder (ASD) experience high rates of both unemployment and depression. Though job loss predicts increased risk of depression in the general population, studies have yet to directly examine this relationship among individuals with ASD. With the backdrop of rising unemployment due to COVID‐19, we used a longitudinal design to examine whether employment changes predicted increasing depressive symptoms among young adults with ASD. Online surveys were collected from young adults with ASD at two times: just before widespread social distancing measures were adopted in the United States, and again 10 weeks later. Both time points included measurement of depressive symptoms (Beck Depression Inventory‐2). At Time 2, COVID‐related employment changes and the perceived impact of those changes on well‐being were collected. Of the young adults who were employed at Time 1 (n = 144), over one‐third (37.5%) reported employment changes during the first 2 months of COVID‐19. Most of this change was job loss or reductions in hours or pay (“job loss/reduction”). Controlling for Time 1 depressive symptoms, young adults who experienced job loss/reduction had significantly higher depressive symptoms at Time 2 than those without an employment change. Individuals' perceived impact of employment change also predicted depressive symptoms. These findings suggest that losing a job or experiencing reductions in hours or pay leads to worsening depressive symptoms among adults with ASD. Better supporting autistic adults in the workplace may not only decrease the likelihood of job loss, but also combat the exceedingly high rates of depression in this group.Lay SummaryThough unemployment has been linked to mental health problems in the general population, this relationship is seldom considered among adults with autism. In this study, we found that adults on the autism spectrum who lost their jobs or experienced reductions in pay or hours during the first 2 months of COVID‐19 had worsening depression compared to adults who did not have job changes. Our findings suggest that increasing access to employment may help alleviate poor mental health among autistic adults.
Prognostic impact of eligibility for adjuvant immunotherapy in locally advanced urothelial cancer
Authors: Miura Yuki , Hatakeyama Shingo , Tanaka Toshikazu , Fujita Naoki , Horiguchi Hirotaka , Okuyama Yoshiharu , Kojima Yuta , Noro Daisuke , Tokui Noriko , Okamoto Teppei , Yamamoto Hayato , Ito Hiroyuki , Yoneyama Takahiro , Hashimoto Yasuhiro , Ohyama Chikara 
Published: October 2021

AbstractObjectiveTo evaluate the effect of postoperative pathological findings related to the eligibility of adjuvant immunotherapy on oncologic outcomes in patients with localized and locally advanced muscle‐invasive bladder carcinoma (MIBC) and upper tract urothelial carcinoma (UTUC).Patients and methodsWe retrospectively evaluated 1082 patients treated with radical cystectomy (n = 597) and nephroureterectomy (n = 485) between January 2000 and April 2021. Patients were divided into two groups: pT3‐4 or pN+ without neoadjuvant chemotherapy and ypT2‐4 or pN+ treated with neoadjuvant chemotherapy (trial‐eligible group) or others (trial‐ineligible group). The primary outcome was the effect of trial eligibility for adjuvant immunotherapy on disease‐free survival (DFS) and overall survival (OS). Secondary outcomes included the additional effect of lymphovascular invasion (LVI) status to the clinical trial criteria on prognosis and a risk model development.ResultsThe median ages of the patients were 69 and 72 years in the MIBC and UTUC groups, respectively. Fifty‐two percent of patients met the trial inclusion criteria. Trial eligibility was significantly associated with poor DFS and OS among patients with MIBC and UTUC. LVI‐positive status was significantly associated with poor prognosis among patients in the trial‐eligible group. A very high risk (LVI+ or pN+ among the pT3‐4 or ypT2‐4) was significantly associated with poor prognosis.ConclusionA total of 52% of patients were eligible for adjuvant immunotherapy. Trial eligibility was significantly associated with a poor prognosis. LVI+ and pN+ may play a key role in candidate selection for adjuvant immunotherapy.
A student led computational screening of peptide inhibitors against main protease of SARS‐CoV‐2
Authors: Khan Anika Tajrian , Chowdhury Golam Mahmud , Hafsah Juwairiyah , Maruf Md , Raihan Md Riyad Hossen , Chowdhury Md Talha , Nawal Nafisa , Tasnim Nishat , Saha Pranto , Roy Prottoy , Tabassum Raya , Rodrigues Souvick Patrick , Hasan Walid , Samanta Zarin Tasnim , Kamal Suprio , Nazir Md Shahoriar , Ali Md Ackas , Halim Mohammad A. 
Published: October 2021

AbstractThe main protease of SARS‐CoV‐2 is a promising drug target due to its functional role as a catalytic dyad in mediating proteolysis during the viral life cycle. In this study, experimentally proven 14 HIV protease peptides were screened against the main protease of SARS‐CoV‐2. Fourteen middle and high school “student researchers” were trained on relevant computational tools, provided with necessary biological and chemical background and scientific article writing. They performed the primary screening via molecular docking and the best performing complexes were subjected to molecular dynamics simulations. Molecular docking revealed that HIP82 and HIP1079 can bind with the catalytic residues, however after molecular dynamics simulation only HIP1079 retained its interaction with the catalytic sites. The student researchers were also trained to write scientific article and were involved with drafting of the manuscript. This project provided the student researchers an insight into multi‐disciplinary research in biology and chemistry, inspired them about practical approaches of computational chemistry in solving a real‐world problem like a global pandemic. This project also serves as an example to introduce scientific inquiry, research methodology, critical thinking, scientific writing, and communication for high school students.
Diminished culpability in fetal alcohol spectrum disorders (FASD)
Authors: Novick Brown Natalie , Greenspan Stephen 
Published: October 2021

AbstractThere is a biological basis for diminished criminal responsibility in offenders with fetal alcohol spectrum disorders (FASD) just as there is in those with intellectual disability. Functional limitations affecting cognition in both neurodevelopmental conditions stem directly from structural brain damage at a gross and molecular level, which usually impairs executive functioning among other cognitive skills. Executive functioning, which includes reasoning and impulse control, is the only neural system in the brain that involves consciousthought. With respect to the law, impaired reasoning or rationality is an aspect of mens rea (“guilty mind”). When rationality is impaired by prenatal alcohol exposure, acts driven by strong emotion and urges can occur, which has obvious implications regarding criminal responsibility. TheAtkinsdecision by the U.S. Supreme Court reflects the rationale that organically based brain dysfunction in executive skills reduces criminal culpability. We argue that people with FASD who have similar brain dysfunction likewise have reduced criminal responsibility.
Positive electrostatic therapy of metastatic tumors: selective induction of apoptosis in cancer cells by pure charges
Authors: Zandi Ashkan , Rafizadeh‐Tafti Saeid , Shojaeian Fatemeh , Ali Khayamian Mohammad , Abbasvandi Fereshteh , Faranoush Mohammad , Anbiaee Robab , Najafikhoshnoo Sahar , Hoseinpour Parisa , Assadi Sepanta , Katebi Pouyan , Davari sh. Zahra , Shalileh Shahriar , Salemizadeh Parizi Mohammad , Vanaei Shohreh , Ghaderinia Mohammadreza , Abadijoo Hamed , Taheri Payam , Reza Esmailinejad Mohammad , Sanati Hassan , Reza Rostami Mohammad , Sadeghian Reza , Kordehlachin Yasin , Sadegh Mousavi‐kiasary S. M. , Mamdouh Amir , Hossein Miraghaie Seyyed , Baharvand Hossein , Abdolahad Mohammad 
Published: October 2021

AbstractBackgroundWe discovered that pure positive electrostatic charges (PECs) have an intrinsic suppressive effect on the proliferation and metabolism of invasive cancer cells (cell lines and animal models) without affecting normal tissues.MethodsWe interacted normal and cancer cell lines and animal tumors with PECs by connecting a charged patch to cancer cells and animal tumors. many biochemical, molecular and radiological assays were carried out on PEC treated and control samples.ResultsCorrelative interactions between electrostatic charges and cancer cells contain critical unknown factors that influence cancer diagnosis and treatment. Different types of cell analyses prove PEC‐based apoptosis induction in malignant cell lines. Flowcytometry and viability assay depict selective destructive effects of PEC on malignant breast cancer cells. Additionally, strong patterns of pyknotic apoptosis, as well as downregulation of proliferative‐associated proteins (Ki67, CD31, and HIF‐1α), were observed in histopathological and immunohistochemical patterns of treated mouse malignant tumors, respectively. Quantitative real‐time polymerase chain reaction results demonstrate up/down‐regulated apoptotic/proliferative transcriptomes (P21, P27, P53/CD34, integrin α5, vascular endothelial growth factor, and vascular endothelial growth factor receptor) in treated animal tumors. Expression of propidium iodide in confocal microscopy images of treated malignant tissues was another indication of the destructive effects of PECs on such cells. Significant tumor size reduction and prognosis improvement were seen in over 95% of treated mouse models with no adverse effects on normal tissues.ConclusionWe discovered that pure positive electrostatic charges (PECs) have an intrinsic suppressive effect on the proliferation and metabolism of invasive cancer cells (cell lines and animal models) without affecting normal tissues. The findings were statistically and observationally significant when compared to radio/chemotherapy‐treated mouse models. As a result, this nonionizing radiation may be used as a practical complementary approach with no discernible side effects after passing future human model studies.
Development and validation of pretreatment nomogram for disease‐specific mortality in gastric cancer‐A competing risk analysis
Authors: Bando Etsuro , Ji Xinge , Kattan Michael W. , Bencivenga Maria , de Manzoni Giovanni , Terashima Masanori 
Published: October 2021

AbstractBackgroundIn several reports, gastric cancer nomograms for predicting overall or disease‐specific survival have been described. The American Joint Committee on Cancer (AJCC) introduced the attractiveness of disease‐specific mortality (DSM) as an endpoint of risk model. This study aimed to develop the first pretreatment gastric cancer nomogram for predicting DSM that considers competing risks (CRs).MethodsThe prediction model was developed using data for 5231 gastric cancer patients. Fifteen prognosticators, which were registered at diagnosis, were evaluated. The nomogram for DSM was created as visualizations of the multivariable Fine and Gray regression model. An independent cohort for external validation consisted of 389 gastric cancer patients from a different institution. The performance of the model was assessed by discrimination (Harrell's concordance (C)‐index), calibration, and decision curve analysis. DSM and CRs were evaluated, paying special attention to host‐related factors such as age and Eastern Cooperative Oncology Group performance status (ECOG PS), by using Gray's univariable method.ResultsFourteen prognostic factors were selected to develop the nomogram. The new nomogram for DSM exhibited good discrimination. Its C‐index of 0.887 surpassed that of the American Joint Committee on Cancer (AJCC) clinical staging (0.794). The C‐index was 0.713 (AJCC, 0.582) for the external validation cohort. The nomogram showed good performance internally and externally, in the calibration and decision curve analysis. Host‐related factors including age and ECOG PS, were strongly correlated with competing risks.ConclusionsThe newly developed nomogram accurately predicts DSM, which can be used for patient counseling in clinical practice.
Lymph node metastases >5 and metastatic lymph node ratio >0.30 of differentiated thyroid cancer predict response to radioactive iodine
Authors: Yun Canhua , Xiao Juan , Cao Jingjia , Shao Chunchun , Wang Lihua , Zhang Wei , Jia Hongying 
Published: October 2021

AbstractPurposeThe study was designed to elucidate the predictive value of the number of lymph node metastases (LNMs) and lymph node ratio (LNR) for response to therapy restratification system (RTRS).MethodsFrom December 2015 to December 2019, 1228 patients who accepted radioactive iodine (RAI) were collected in the study. After 6–8 months, response to RAI was evaluated as complete response (excellent response) and incomplete response (indeterminate, biochemical, and structural incomplete response). The study developed classification tree to determine the optimum LNMs and LNR that predicted response to RAI. Multivariate logistic regression analyses were further analyzed to find independent factors of response to RAI.ResultThe mean age of patients was 44 ± 12 and 71.09% (873/1228) were females. The best cutoff value of LNMs to affect RAI treatment response determined by classification tree was 5. Further in 388 patients with LNMs >5, the best cutoff value of LNR to affect RAI treatment response determined by classification tree was 0.30. With multivariate analysis, the study found that LNMs (>5), gender, lymph node dissection, and American Thyroid Association (ATA) risk classification were independent predictors of response to RAI for all 1228 patients; and LNR (>0.30), gender, and ATA risk classification for 388 patients with LNMs >5. The sensitivity analysis indicated that whether patients with LNM or not were included, the multivariate logistic regression model was kept stable. On subgroup analysis, no significant interactions were observed between the effect of LNMs/LNR and gender, N stage, ATA risk classification, lymph node dissection, or T stage.ConclusionsWith classification tree, the study found that LNMs and LNR could predict initial response to RAI, and their optimal cutoff values were 5 and 0.30, separately.
Recombinant activated factor VII in a patient with intracranial hemorrhage and severe thrombocytopenia
Authors: Ansari Amir M. , Khorasanchi Adam , Faghihimehr Armaghan , Toor Amir 
Published: October 2021

AbstractHemorrhage in patients with hematologic malignancies is often difficult to manage as many of these patients also have coagulopathy and thrombocytopenia of varying severity. Recombinant factor VIIa is a FDA‐approved agent for management of bleeding in hemophilia patients with inhibitors. Use of recombinant FVIIa has also been used as a last resort in various clinical settings such as trauma, alveolar hemorrhage, gastrointestinal bleeding, and intracranial hemorrhage for control of bleeding with variable outcomes. This paper presents a case of recombinant FVIIa administration in a patient with multiple myeloma and profound transfusion refractory thrombocytopenia suffering from traumatic subdural hematoma.
Lidocaine‐induced systemic toxicity complicating radiofrequency ablation of benign thyroid nodule procedure: A case report and review of literature
Authors: Nguyen Van Bang , Nguyen Van Vy Hau , Tuyen Linh Pham Nguyen , Le Chi Van 
Published: October 2021

AbstractThe systemic toxicity of lidocaine is an extremely rare complication of thyroid RFA procedure, and it can be life‐threatening. The quick recognization of its symptoms and intravenous use of lipid emulsion are essential to preventing mortality.
Systemic lupus erythematous as an unusual cause of intussusception in Sudanese woman: A case report
Authors: Salih Mohammadeen Salwa Dafa Allah , F. Eldow Ahmed Amar , Abdelmutalib Mohamed Rania Eisa , Osman Hamza Sara Galal , Mohammed Elagib Elnour , H. Awadalla Huyam , Hassan Abubkar , Ahmed Abdelkareem A. , Adam Essa Mohammed Elmujtba 
Published: October 2021

AbstractAbdominal pain does have a wide differential diagnosis, however, gastrointestinal involvement is not unusual in SLE, and this report is to describe an unusual case of intussusception due to SLE in a Sudanese woman.
Buried bumper syndrome: A late complication of PEG tube insertion
Authors: Mohamad Ali Norliana Dalila , Johari Bushra , Mohd Aripin Yahya 
Published: October 2021

AbstractThe identification of BBS is crucial to avoid serious complications including sepsis and peritonitis. The diagnosis can be made clinically or from endoscopy. The exact site of the migrated PEG internal bumper can be demonstrated on imaging study.
Trichorrhexis invaginata and ichthyosiform erythroderma in netherton syndrome
Authors: Ahmadian Heris Javad , Nouri‐Vaskeh Masoud , Soroureddin Zahra , Noroozi Guilandehi Sama 
Published: October 2021

AbstractTrichorrhexis invaginata and ichthyosiform erythroderma are pathognomic for Netherton Syndrome.
Was Menschen bewegt, die etwas bewegen
Authors: Subiranas Alba Mena 
Published: October 2021

AbstractIm Profil: Frau Dr. Alba Mena Subiranas, Vice President Europe Operations Resins & Additives bei BASF und stellvertretende Vorsitzende des VDI‐Fachbereichs GVC03 Betriebsingenieure.