bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical manifestations of patients with GDF2 mutations associated with hereditary hemorrhagic telangiectasia type 5
Authors: Farhan Ahmed , Yuan Frank , Partan Elizabeth , Weiss Clifford R. 
Published: October 2021

AbstractHereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant fibrovascular dysplasia caused by mutations in ENG, ACVRL1, and SMAD4. Increasingly, there has been an appreciation for vascular conditions with phenotypic overlap to HHT but which have distinct clinical manifestations and arise from novel or uncharacterized gene variants. This study reported on a cohort of four unrelated probands who were diagnosed with a rare form of GDF2‐related HHT5, for which only five prior cases have been described. Two patients harbored heterozygous missense variants not previously annotated as pathogenic (p.Val403Ile; p.Glu355Gln). Clinically, these patients had features resembling HHT1, including cerebrovascular involvement of their disease (first report documenting cerebral involvement of HHT5), but with earlier onset of epistaxis and a unique anatomic distribution of dermal capillary lesions that involved the upper forelimbs, trunk, and head. The other two patients harbored interstitial deletions larger than five megabases between 10q11.22 and 10q11.23 that included GDF2. To our knowledge, this is the first report detailing large genomic deletions leading to HHT5. These patients also demonstrated mucocutaneous capillary dysplasias, including intranasal vascular lesions complicated by childhood‐onset epistasis, with a number of extravascular findings related to their 10q11.21q11.23 deletion. In conclusion, patients with GDF2‐related HHT may present with a number of unique characteristics that differ from classically reported features of HHT.
N‐Hydroxyphthalimide‐Catalyzed Epoxidation of Inactive Aliphatic Olefins with Air at Room Temperature
Authors: Xu Dejing , He Yaorong , Liu Xiaohui , Xiong Chao , Zhou Xiantai , Xue Can , Ji Hongbing 
Published: October 2021

AbstractMetal‐free aerobic epoxidation of aliphatic alkenes, especially terminal alkenes, remains a significant challenge. Herein, a novel and practical synthetic method with N‐hydroxyphthalimide (NHPI) as catalyst, isobutyraldehyde as sacrificial reductant and air as oxidant has been developed for the epoxidation of olefins in excellent to moderate conversions and selectivity at room temperature. Meanwhile, this synthetic methodology could efficiently convert inactive light olefins to corresponding epoxides which are highly desired in industry. Moreover, several free radicals in the reaction were identified and characterized by in situ electron paramagnetic resonance spectroscopy (in situ EPR) and high‐resolution mass spectrometry (HRMS). Mechanistic studies showed that the phthalimide N‐oxyl radical (PINO⋅) generated from NHPI would promote the homolysis of isobutyraldehyde to carbonyl carbon radical by the extraction of hydrogen atoms.
Grooming site preferences in black capuchin monkeys: Hygienic vs. social functions revisited
Authors: Pfoh Romina , Tiddi Barbara , Di Bitetti Mario S. , Agostini Ilaria 
Published: October 2021

AbstractWhen primates groom each other, they tend to concentrate on those parts of the body they cannot efficiently self‐groom (i.e., not visually accessible), and prefer to intensify grooming in areas with high hair density, thus suggesting a hygienic function. However, preferences for some body sites over others during social grooming may also result from different degrees of social bonding and relative dominance. To assess the relative importance of physical (hygienic) and social factors, we examined grooming interactions in two groups of wild black capuchin monkeys (Sapajus nigritus) during 15 nonconsecutive months. We evaluated the distribution of social grooming across body sites according to their accessibility by self‐grooming and hair density. At the same time, we assessed whether the degree of dyadic social bonding affects the relative body orientation between groomer and groomee and the access to vulnerable body sites (e.g., face, throat, groin) during grooming. As expected, capuchins preferentially groomed inaccessible body sites (e.g., back and head), with a disproportionate effort directed to the tufts of their partners. We found that dyadic social bond strength, together with rank distance, significantly affected the proportion of grooming in ventro‐ventral body relative orientation only in dominant‐subordinate groomer‐groomee dyads. This may indicate that, when two individuals differ in rank but are strongly bonded, the level of uncertainty related to the social context is already resolved and thus grooming per se is no longer perceived by the subordinate as an uncertain/risky situation. We found no effect of social bonding on grooming vulnerable body sites for any type of dyad. Our findings suggest that grooming site preferences in black capuchin monkeys simultaneously reflect hygienic and social functions.
An isolated population of Austrolebias charrua (Rivulidae, Cyprinodontiformes) detected in a fragile ecosystem (Maldonado, Uruguay)
Authors: Teixeira‐de‐Mello Franco , Canavero Andrés , Ríos Néstor , García Graciela , Suárez Bárbara , Lozoya Juan Pablo , Loureiro Marcelo 
Published: October 2021

Abstract

Annual killifishes inhabit seasonal ponds and wetlands that dry out completely during the dry season, and tend to present very restricted distributions, meaning that local extinctions can lead to the disappearance of entire populations.
Using morphological and genetic approaches the present study identifies a new population of Austrolebias charrua in an isolated area of the lower basin of Maldonado stream (Atlantic Ocean coastal basin) in Uruguay.
The new population extends the previous area of occurrence by 20 km2, 100 km to the south of previous records, and shows some genetic and morphological characteristics that indicate it is isolated from other populations in the previously known range.
This species has been catalogued as a priority for conservation by the National System of Protected Areas of Uruguay; the new record does not significantly affect the size of the area of occupation of the species.
The new site, located in the Alameda de San Carlos, is a small area that suffers human threats that may lead to environmental impacts and thus jeopardize the conservation of this population.
Rezente Erdbebentätigkeit in Deutschland: Bodenbewegungen und Schütterwirkungen
Authors: Beinersdorf Silke , Kaufmann Christian , Schwarz Jochen , Knapmeyer‐Endrun Brigitte 
Published: October 2021

AbstractDer Beitrag stellt die rezente Erdbebentätigkeit auf dem Gebiet Deutschlands der letzten Jahre, beginnend mit 2002 bis einschließlich 2019 vor. Für ausgewählte Erdbeben (Alsdorf 2002, Waldkirch 2004, Goch 2011, Nassau 2011) werden Messungen der Bodenbewegung aufbereitet und für ausgewählte Zeitverläufe mit der Untergrundsituation der aktuellen und bisherigen Erdbebennorm DIN EN 1998‐1/NA in Korrelation gebracht. Wie an Beispielen gezeigt werden kann, haben die gewonnenen Bodenbewegungen bis dato nicht die durch die Gefährdungskarten (mit der Wiederholungsperiode von 475 Jahren) vorgegebenen Kenngrößen erreicht. Für ausgewählte Zeitverläufe werden exemplarisch gemessene Bodenbewegungen und die beobachtete makroseismische Intensität in Bezug gebracht. Die Untersuchung der max. beobachteten Bodenbewegungsgrößen sowie der makroseismischen Wirkungen ist für Anwendungen im ingenieurseismologischen Bereich von hohem Interesse, v. a. für die realistische Abschätzung der Bodenbewegung in gering bis moderat seismisch aktiven Gebieten wie Deutschland. Für die gewählten Ereignisse werden Schütterkarten (ShakeMaps) ermittelt, die die potenziellen Schütterwirkungen (makroseismische Intensität) abbilden.
Transperineal prostate biopsy identifies locations of clinically significant prostate cancer in men considering focal therapy with PI‐RADS 3–5 regions of interest
Authors: Stone Nelson , Skouteris Vassilios , Chang Samuel , Klimis Athanasios , Lucia M. Scott 
Published: October 2021

AbstractObjectivesTo determine the benefit of performing transperineal prostate mapping biopsy (TPMB) following multiparametric magnetic resonance imaging (mpMRI) to increase the identification of clinically significant prostate cancer (csPCa) with Gleason grade group (GG) ≥ 2 and their locations outside of the PI‐RADS v2 3–5 category lesions.MethodsmpMRI was performed in 80 men prior TPMB from two institutions. The mpMRI was considered clinically significant (csMRI) if it contained one or more PI‐RADS 3–5 category lesion. mpMRI findings were compared against csPCa diagnosed by TPMB, performed between 16 November 2010, and 13 September 2019, for the entire gland, both lobes and to the right and left anterior and right and left posterior quadrants (RA, LA, RP and LP). Sensitivity, specificity, positive and negative predictive values (PPV, NPV), accuracy and the area under curve (AUC) were determined. Thirteen men also underwent radical prostatectomy and had comparison of TPMB pathology to prostatectomy specimen grading.ResultsTPMB was positive in 60/80 (75%) of which 32 (53.3%) were csPCa. csPCa was present in the RA in 9 (11.3%), LA in 11 (13.8%), RP in 25 (31.3%) and LP in 27 (33.8%) and involved 1 quadrant in 7 (21.9%), 2 quadrants in 12 (37.5%), 3 quadrants in 11 (34.4%) and all 4 quadrants in 2 (6.3%) patients; 57/80 (71.3%) men had a mpMRIs with lesions designated as PI‐RADS 3 in 24 (30%), 4 in 25 (31.3%) and 5 in 8 (10%). A csMRI was present in the RA in 7 (8.8%), LA in 8 (10%), RP in 31 (38.8%) and in the LP in 29 (36.3%), which were limited to one quadrant in 39 (68.4%), 2 quadrants in 16 (28.1%), and 3 quadrants in 2 (3.5%). Sensitivity, specificity, PPV, and NPV were determined from the results of the TPMB and were for the entire gland 81.3%, 35.4%, 45.6% and 73.9%. There were 31 csMRIs involving the right posterior of the gland but only 25 csPCa by TPMB of which 12/31 (38.7%) were concordant for high grade disease. There were 29 men who have a csMRI in the left posterior quadrant, and 14 (48.3%) were concordant with csPCa from the TPMB.ConclusionsMpMRI should be supplemented with TPMB to correctly identify the regions of the prostate that would require ablation in men considering focal therapy.
Artificial intelligence for assisting cancer diagnosis and treatment in the era of precision medicine
Authors: Chen Zi‐Hang , Lin Li , Wu Chen‐Fei , Li Chao‐Feng , Xu Rui‐Hua , Sun Ying 
Published: October 2021

AbstractOver the past decade, artificial intelligence (AI) has contributed substantially to the resolution of various medical problems, including cancer. Deep learning (DL), a subfield of AI, is characterized by its ability to perform automated feature extraction and has great power in the assimilation and evaluation of large amounts of complicated data. On the basis of a large quantity of medical data and novel computational technologies, AI, especially DL, has been applied in various aspects of oncology research and has the potential to enhance cancer diagnosis and treatment. These applications range from early cancer detection, diagnosis, classification and grading, molecular characterization of tumors, prediction of patient outcomes and treatment responses, personalized treatment, automatic radiotherapy workflows, novel anti‐cancer drug discovery, and clinical trials. In this review, we introduced the general principle of AI, summarized major areas of its application for cancer diagnosis and treatment, and discussed its future directions and remaining challenges. As the adoption of AI in clinical use is increasing, we anticipate the arrival of AI‐powered cancer care.
Downregulation of CYP2E1 is associated with poor prognosis and tumor progression of gliomas
Authors: Ye Liguo , Xu Yang , Wang Long , Zhang Chunyu , Hu Ping , Tong Shi’ao , Liu Zhennan , Tian Daofeng 
Published: October 2021

AbstractObjectiveTo explore the role and possible regulatory mechanisms of CYP2E1 in gliomas.MethodsRNA‑seq data and corresponding clinical information of glioma patients were collected from The Cancer Genome Atlas and Chinese Glioma Genome Atlas, and mRNA data of normal brain tissues were obtained by the Genotype‐Tissue Expression project. The Wilcoxon test was performed to analyze the correlation between CYP2E1 expression and glioma subtypes. Univariate and multivariate Cox proportional hazards regression, receiver operating characteristic curves, and Kaplan–Meier plots were used to evaluate the prognostic value of CYP2E1 in glioma. Functional enrichment analyses and immune infiltration analyses were performed to investigate the potential function of CYP2E1 in gliomas. Moreover, we investigated the miRNA and epigenetic mechanisms that regulate CYP2E1 expression. Finally, network pharmacology and molecular docking experiments were used to predict drugs that target CYP2E1.ResultsThe downregulation of CYP2E1 expression may predict a poor prognosis for glioma patients. CYP2E1 expression decreased with increasing WHO grade (II–IV), and its level was correlated with clinical features, including age, 1p19q codeletion status, and IDH state in glioma tissues. Furthermore, CYP2E1 was involved in lipid metabolism and ferroptosis and related to the tumor immune microenvironment due to its strong correlation with the levels of infiltrating monocytes and Tregs. Moreover, variation in the total methylation level and copy number of CYP2E1 was moderately correlated with its mRNA expression (p < 0.05). CYP2E1 was predicted to be targeted by hsa‐miR‐527, whose expression was negatively related to CYP2E1 mRNA expression (p < 0.05). In addition, effective compounds that target CYP2E1, including 18beta‐glycyrrhetinic acid, styrene, toluene, nicotine, m‐xylene, p‐xylene, and colchicine, were identified.ConclusionThe downregulation of CYP2E1, which affects lipid metabolism and the ferroptosis signaling pathway, promotes the progression of gliomas.
Prognostic factors and survival prediction in HER2‐positive breast cancer with bone metastases: A retrospective cohort study
Authors: Lyu Xiaoshuang , Luo Bin 
Published: October 2021

AbstractBackgroundBone is the most common metastatic site of breast cancer. The developmental pattern of bone metastasis differs in different molecular subtypes. The prognostic factors of HER2‐positive breast cancer with bone metastases require further investigation. The goal of this retrospective study was to identify the clinical features and prognostic factors for HER2‐positive patients with bone metastases.MethodsA total of 34,084 HER2‐positive breast cancer cases and 1204 cases of bone metastases from the Surveillance, Epidemiology, and End Results (SEER) database from 2010 to 2015 were analyzed to identify clinical characteristics and prognostic factors. A nomogram was constructed based on the Cox proportional hazards regression model. The C‐index, calibration curve, and receiver operating characteristic (ROC) were utilized for model validation.ResultsIn the HER2‐positive breast cancer total population (34,084 cases), 6.2% developed metastatic diseases. Bone metastases accounted for 3.5% of the entire cohort and 56.7% of all metastatic cases. Univariate and multivariate Cox regression analyses identified seven prognostic factors for predicting cancer‐specific survival (CSS) for HER2‐positive breast cancer patients with bone metastases, including age, brain metastases, liver metastases, lung metastases, PR status, surgery, and chemotherapy. The C‐index of the nomogram was 0.74 vs. 0.78 (for 3‐year CSS) and 0.77 vs. 0.81 (for 5‐year CSS) in the model and validation cohorts, respectively. The AUCs were 0.74 vs. 0.78 (for 3‐year CSS) and 0.77 vs. 0.81 (for 5‐year CSS) in the model and validation cohorts, respectively. The calibration curves indicated favorable agreement between the actual observations and the predictions.ConclusionOur study provided population‐based clinical features and prognostic factors for HER2‐positive breast cancer patients with bone metastases and we constructed a prognostic nomogram with reliable accuracy.
Complete hematological and major molecular response through treatment with low‐dose Interferon alpha 2a in high‐risk polycythemia vera patient: a case report
Authors: Driessen Christoph , Noppen Christoph , Boonen Georg , Drewe Juergen 
Published: October 2021

AbstractLow‐dose interferon‐α 2a treatment may be considered as an alternative to cytoreductive therapy with hydroxyurea or regularly dosed interferon in high‐risk polycythemia vera patients.
Surgical management of a massive congenital hemangioma of the tongue in an infant: A rare case report
Authors: Sarna Krishan , Kamau Martin , Guthua Symon 
Published: October 2021

AbstractHemangiomas of the tongue may reach a massive size resulting in functional compromise. Surgical resection, despite the risk of hemorrhage, may be the only option if conservative measures such embolization are futile in reducing its size.
Endogenous endophthalmitis and multifocal brain abscess—An interesting case
Authors: Mishra Aman , Giri Subarna , Rauniyar Robin , Poudel Sagar , Nepal Amit Sharma , Chaudhary Gajendra , Khanal Shambhu , Paudel Sunanda 
Published: October 2021

AbstractWe present an unusual case that staphylococcal brain abscess can present in an immunocompetent with endogenous endophthalmitis secondary to a septic foci and early prevention of dissemination with appropriate management to prevent its complications.
Incidental case finding of a 19‐year‐old woman with Tuberous Sclerosis Complex: A step‐wise Multidisciplinary approach
Authors: Ali Sajjad , Khan Samahir Tariq , Usman Hamza , Khan Ali Hamza , Douba Zain , Ali Murtaza 
Published: October 2021

AbstractRadiological imaging plays a vital role in clinically diagnosing TSC. TSC prognosis is largely determined by the severity and the extent of the systems affected by it. TSC patients are symptomatically managed, since no cure is present. Healthcare professionals must frequently check‐up TSC patients who have a lifelong disorder.
The “bud” of an aortic aneurysm
Authors: Yamaguchi Tetsuo , Morise Masahiro , Sato Atsuhiko , Kodama Takahide 
Published: October 2021

AbstractAn overlooked “bud” of an aortic aneurysm on a chest radiography resulted in a saccular aortic aneurysm 9 years later. This eye‐catching image showed us the importance of not only documenting abnormalities in regular radiography but also further imaging evaluation for definitive diagnosis and continuous image follow‐up.
Activated Carbon from Various Agricultural Wastes by H3PO4 Activation: Preparation and Characterization
Authors: Joshi Sahira , Shrestha Surendra , Shrestha Bhanu 
Published: October 2021

AbstractActivated carbons (ACs) were prepared from various agricultural wastes, namely, lapsi seed stones, beleric seeds, peach stones, walnut shells, bamboo, and sugarcane bagasse by pyrolysis with chemical activation by phosphoric acid. As‐synthesized ACs were characterized by iodine number, methylene blue number, surface area, scanning electron microscopy, Fourier transform infrared spectroscopy, and X‐ray diffraction. The highest carbon yield was recorded for the AC derived from peach stones. The highest surface areas were achieved in ACs prepared from peach stones and walnut shells. All the ACs have an external surface covered with regular pores of different shapes and sizes, an amorphous nature, and similar oxygen‐containing surface functional groups.
Effective Treatment of Chocolate Industry Effluent Using Waste from Biocosmetic Industry
Authors: Bouchareb Raouf , Derbal Kerroum , Yelfouf Assia , Diaf Dounia Ben , Mahfouf Bouchareb Esma , Dizge Nadir 
Published: October 2021

AbstractThe revaluation of industrial wastes has great environmental benefits. Bio‐cosmetic industry has known huge success worldwide and eventually large amounts of wastes are produced. A bio‐cosmetic industrial waste (BCIW) was experimentally evaluated for its efficiency compared to Moringaoleifera seeds powder (MOSP) and aluminum sulfate (alum) coagulants to treat chocolate industry wastewater (CIWW). Confectionery industrial wastewater is commonly defined by high turbidity, chemical oxygen demand (COD), total solids, total volatile solids, and carbohydrates that may cause detrimental environmental pollution if discharged directly. M.oleifera seeds are largely studied by several researchers and alum is widely used in the industrial wastewater treatment due to its performance and low price. However, industrial bio‐cosmetic waste has never been used as a coagulant in previous studies. In this study, the removal of turbidity and COD from CIWW is investigated in relation to coagulant concentration and coagulation pH. It is found that the industrial waste performs better than MOSP and alum in removing turbidity and COD. The results show that BCIW removes more than 99% turbidity and over 87% COD at optimal treatment conditions of coagulant concentration and pH. The findings suggest that the BCIW has the potential to be utilized as a bio‐coagulant for treating CIWW.
Recent Advances on Carbon Monoxide Releasing Molecules for Antibacterial Applications
Authors: Cheng Jian , Hu Jinming 
Published: October 2021

AbstractCarbon monoxide (CO) has been known as an endogenous signaling molecule in addition to an air pollutant. It plays a critical role in many physiological and pathological processes. Therefore, CO has been recognized as a potent therapeutic agent for the treatment of numerous diseases such as cancers, rheumatoid arthritis, and so on. Instead of direct CO inhalation, two main categories of CO‐releasing molecules (CORMs) (i. e., metal carbonyls and nonmetallic CO donors) have been developed to safely and locally deliver CO to target tissues. In this minireview, we summarize the recent achievements of CORMs on antibacterial applications. It appears that the antibacterial activity of CORMs is different from CO gas, which is tightly correlated to not only the types of CORMs applied but also the tested bacterial strains. In some circumstances, the antibacterial mechanisms are debated and need to be clarified. We hope more attention can be paid to this emerging field and new antibacterial agents with a low risk of drug resistance can be developed.