bluuebunny/crossref_metadata_2025_split huggingface dataset:
Long term outcome of MPI‐CDG patients on D‐mannose therapy
Authors: Girard Muriel , Douillard Claire , Debray Dominique , Lacaille Florence , Schiff Manuel , Vuillaumier‐Barrot Sandrine , Dupré Thierry , Fabre Monique , Damaj Lena , Kuster Alice , Torre Stéphanie , Mention Karine , McLin Valérie , Dobbelaere Dries , Borgel Delphine , Bauchard Eric , Seta Nathalie , Bruneel Arnaud , De Lonlay Pascale 
Published: July 2020

AbstractMannose phosphate isomerase MPI‐CDG (formerly CDG‐1b) is a potentially fatal inherited metabolic disease which is readily treatable with oral D‐mannose. We retrospectively reviewed long‐term outcomes of patients with MPI‐CDG, all but one of whom were treated with D‐mannose. Clinical, biological, and histological data were reviewed at diagnosis and on D‐mannose treatment. Nine patients were diagnosed with MPI‐CDG at a median age of 3 months. The presenting symptoms were diarrhea (n = 9), hepatomegaly (n = 9), hypoglycemia (n = 8), and protein loosing enteropathy (n = 7). All patients survived except the untreated one who died at 2 years of age. Oral D‐mannose was started in eight patients at a median age of 7 months (mean 38 months), with a median follow‐up on treatment of 14 years 9 months (1.5‐20 years). On treatment, two patients developed severe portal hypertension, two developed venous thrombosis, and 1 displayed altered kidney function. Poor compliance with D‐mannose was correlated with recurrence of diarrhea, thrombosis, and abnormal biological parameters including coagulation factors and transferrin profiles. Liver fibrosis persisted despite treatment, but two patients showed improved liver architecture during follow‐up. This study highlights (i) the efficacy and safety of D‐mannose treatment with a median follow‐up on treatment of almost 15 years (ii) the need for life‐long treatment (iii) the risk of relapse with poor compliance, (iii) the importance of portal hypertension screening (iv) the need to be aware of venous and renal complications in adulthood.
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
Authors: Ng Bobby G. , Eklund Erik A. , Shiryaev Sergey A. , Dong Yin Y. , Abbott Mary‐Alice , Asteggiano Carla , Bamshad Michael J. , Barr Eileen , Bernstein Jonathan A. , Chelakkadan Shabeed , Christodoulou John , Chung Wendy K. , Ciliberto Michael A. , Cousin Janice , Gardiner Fiona , Ghosh Suman , Graf William D. , Grunewald Stephanie , Hammond Katherine , Hauser Natalie S. , Hoganson George E. , Houck Kimberly M. , Kohler Jennefer N. , Morava Eva , Larson Austin A. , Liu Pengfei , Madathil Sujana , McCormack Colleen , Meeks Naomi J.L. , Miller Rebecca , Monaghan Kristin G. , Nickerson Deborah A. , Palculict Timothy Blake , Papazoglu Gabriela Magali , Pletcher Beth A. , Scheffer Ingrid E. , Schenone Andrea Beatriz , Schnur Rhonda E. , Si Yue , Rowe Leah J. , Serrano Russi Alvaro H. , Russo Rossana Sanchez , Thabet Farouq , Tuite Allysa , Villanueva María Mercedes , Wang Raymond Y. , Webster Richard I. , Wilson Dorcas , Zalan Alice ,   Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW‐CMG), Wolfe Lynne A. , Rosenfeld Jill A. , Rhodes Lindsay , Freeze Hudson H. 
Published: July 2020

AbstractAsparagine‐linked glycosylation 13 homolog (ALG13) encodes a nonredundant, highly conserved, X‐linked uridine diphosphate (UDP)‐N‐acetylglucosaminyltransferase required for the synthesis of lipid linked oligosaccharide precursor and proper N‐linked glycosylation. De novo variants in ALG13 underlie a form of early infantile epileptic encephalopathy known as EIEE36, but given its essential role in glycosylation, it is also considered a congenital disorder of glycosylation (CDG), ALG13‐CDG. Twenty‐four previously reported ALG13‐CDG cases had de novo variants, but surprisingly, unlike most forms of CDG, ALG13‐CDG did not show the anticipated glycosylation defects, typically detected by altered transferrin glycosylation. Structural homology modeling of two recurrent de novo variants, p.A81T and p.N107S, suggests both are likely to impact the function of ALG13. Using a corresponding ALG13‐deficient yeast strain, we show that expressing yeast ALG13 with either of the highly conserved hotspot variants rescues the observed growth defect, but not its glycosylation abnormality. We present molecular and clinical data on 29 previously unreported individuals with de novo variants in ALG13. This more than doubles the number of known cases. A key finding is that a vast majority of the individuals presents with West syndrome, a feature shared with other CDG types. Among these, the initial epileptic spasms best responded to adrenocorticotropic hormone or prednisolone, while clobazam and felbamate showed promise for continued epilepsy treatment. A ketogenic diet seems to play an important role in the treatment of these individuals.
Changes of compound hot and dry extremes on different land surface conditions in China during 1957–2018
Authors: Feng Yao , Liu Wenbin , Sun Fubao , Wang Hong 
Published: July 2020

AbstractThe co‐occurrence of hot and dry extremes (compound hot and dry extreme, CHDE) has attracted much attention due to the amplified impact on wildfire occurrence, agriculture production and human health. Most existing studies have reported the spatiotemporal variations of CHDE, changes in CHDE on different land surface conditions are barely discussed. The study investigated the spatial and temporal differences of CHDE over different regions and land covers in China during 1957–2018. On average over China, both day‐ and night‐time CHDEs have increased with a more rapid (2.6 times faster) and significant (p < .05) increasing trend in night‐time ones. Increasing trends are mainly distributed in north China with decreasing trends in central China. Moreover, increasing trends in night‐time mildly dry (0.07 per decade) and moderately hot (0.06 per decade) CHDEs are the largest among all dry and hot CHDEs. Regionally, the frequency of CHDE is the highest over the humid and sub‐humid regions for night‐ and day‐time CHDEs, but the lowest for both over the arid region. Meanwhile, CHDE has increased over the humid and sub‐humid regions in the recent decade but decreased over the arid region since 1957. For different land covers, the frequency of CHDE is the highest over forest but the lowest over grassland. Day‐time CHDEs of different hot magnitudes indicate the largest increasing trends over grassland caused by the largest increasing trends of day‐time heatwave. Significant (p < 0.05) increasing trends of day‐ and night‐time CHDEs over forest may increase the risks of tree mortality or forest fires after 2010 and larger increasing trends in night‐time CHDEs over urban may negatively impact human health.
Prognostic value of different metastatic sites for patients with FIGO stage IVB endometrial cancer after surgery: A SEER database analysis
Authors: Li Hui , Zhang Rusi , Chen Cuiying , Wu Chuling , Lin Haoliang , Li Jing , Lin Zhongqiu 
Published: July 2020

AbstractObjectiveThis study aimed to investigate the association between different metastatic sites and survival in endometrial cancer (EC) patients with International Federation of Gynecology and Obstetrics (FIGO) stage IVB disease.MethodsFIGO stage IVB patients with EC were selected from the surveillance, epidemiology, and end results database. Overall survival (OS) and cause‐specific survival (CSS) were analyzed with Kaplan‐Meier analysis and log‐rank tests. Univariate and multivariate Cox proportional hazard models were used to identify the prognostic factors for OS and CSS.ResultsA total of 929 FIGO stage IVB patients with EC were identified. Patients with peritoneum metastasis were associated with significantly better OS and CSS compared to those with organ‐specific metastasis (median OS: 29 vs 19 months, P = .005; median CSS: 47 vs 25 months, P < .001). Moreover, the survival superiority of peritoneum metastasis remained significant when organ‐specific metastasis was further classified into specific single‐organ metastasis. The multivariate analysis also indicated that compared with peritoneum metastasis, bone, brain, and lung metastasis were independent prognostic factors for worse OS. Similarly, distant lymph node, bone, brain, liver, and lung metastasis were associated with worse CSS.ConclusionMetastatic sites affected prognosis in FIGO stage IVB patients with EC. Patients with peritoneum metastasis had significantly better survival outcomes than those with organ‐specific metastasis.
Fetal Open and Closed Spina Bifida on a Routine Scan at 11 Weeks to 13 Weeks 6 Days
Authors: Liao Yimei , Wen Huaxuan , Luo Guoyang , Ouyang Shuyuan , Bi Jingru , Yuan Ying , Luo Dandan , Huang Yi , Zhang Kui , Tian Xiaoxian , Li Shengli 
Published: July 2020

ObjectivesThis study aimed to determine the sensitivity of a first‐trimester routine scan in detecting spina bifida (SB) and evaluating the first‐trimester intracranial signs.MethodsThis retrospective study was a review of a prospectively collected database. All cases of SB diagnosed in a tertiary center from 2008 to 2015 were identified. The ultrasound images and medical records were reviewed. All cases of SB diagnosed prenatally were confirmed at birth or autopsy.ResultsA total of 24 cases of SB were diagnosed from 53,349 pregnancy cases. Except for 10 cases with a body stalk anomaly, craniorachischisis, or iniencephaly, 7 cases with open spina bifida (OSB) and 7 cases with closed spina bifida (CSB) were analyzed. The first‐trimester detection rates were 100% (7 of 7) for OSB and 28.5% (2 of 7) for CSB. Eight cases were highly suspected of SB in the first trimester because of an abnormal appearance of the posterior brain; 3 were false‐positive cases. Two isolated cases of OSB had first‐trimester intracranial signs. An obliterated cisterna magna (CM) showed the highest sensitivity for OSB but low specificity. Two cases of OSB had no discernible landmark of intracranial translucency and the CM, and 4 showed normal intracranial translucency with an obliterated CM. All CSB cases were coupled with a normal hind brain except for 2 cases.ConclusionsA first‐trimester routine scan has high sensitivity in screening for OSB. The CM may be the most sensitive intracranial sign.
Using the Superb Microvascular Imaging Method in the Distinction of Intraductal Papilloma and Duct Ectasia With Secretion
Authors: Tek Cihat , Öztekin Pelin Seher , Celepli Pınar , Uçar Funda , Koşar Pınar Nercis 
Published: July 2020

ObjectivesTo investigate the diagnostic value of a Superb Microvascular Imaging (SMI; Toshiba Medical Systems, Tokyo, Japan) Doppler examination for distinguishing intraductal papilloma (IDP) from duct ectasia with secretion in lesions smaller than 1 cm compared to color Doppler imaging (CDI) and power Doppler imaging (PDI).MethodsFifty‐nine lesions were evaluated by grayscale ultrasound, CDI, PDI, and SMI. Biopsied tissue samples were analyzed. Ultrasound evaluations and Doppler examinations were performed with a Toshiba Aplio 500 device. The lesions were divided into 2 groups, secretion and IDP, according to the pathologic results. Color Doppler imaging, PDI, and SMI data were compared statistically to investigate their diagnostic values.ResultsOf the 59 lesions, 22 were secretion, and 37 were IDP. The mean diameters ± SDs were 4.7 ± 0.6 mm in the secretion group and 4.9 ± 0.8 mm in the IDP group (P = .315). There was no significant difference in grayscale ultrasound features such as shape or margin between the groups (P > .05). No significant difference was found between the groups in CDI or PDI characteristics (P > .999; P = .702, respectively). The color SMI evaluation results showed no vascularity in 18 (81.8%) lesions in the secretion group. Vascularity was detected in 32 patients (86.5%) in the IDP group. In the receiver operating characteristic analysis, the areas under the curve were calculated as 0.842 (95% confidence interval [CI], 0.728–0.925) for SMI, 0.522 (95% CI, 0.388–0.654) for PDI, and 0.518 (95% CI, 0.384–0.650) for CDI.ConclusionsSuperb Microvascular Imaging is more accurate and has more diagnostic ability than CDI or PDI in distinguishing small IDPs from duct ectasia with secretion because of its ability to visualize slow flow speeds of vascular structures.
Role of epigenetic alterations in aflatoxin‐induced hepatocellular carcinoma
Authors: Mungamuri Sathish Kumar , Mavuduru Vijay Aditya 
Published: July 2020

AbstractAflatoxins are produced by Aspergillus flavus and Aspergillus parasiticus and are toxic carcinogens. These ‘fungal molds’ grow on corn, groundnuts, cereals and other grains. Of all the aflatoxins, Aflatoxin‐B1 (AFB1) is considered the most toxic. Long‐term exposure of AFB1 forms DNA adducts causing many genetic mutations and epigenetic alterations, ultimately leading to hepatocellular carcinoma (HCC). The liver is the major site of Aflatoxin detoxification; wherein cytochrome P‐450 (CYP450) enzymes process the AFB1 into its epoxide AFB1‐Exo‐8,9‐Epoxy (ABFO) and other less toxic metabolites. ABFO, in turn, reacts with DNA, RNA and protein molecules forming AFB adducts. The AFB1‐DNA adducts in turn will induce various mutations, mainly mediated by G→T transversions. Aflatoxins are also known to cause HCC cell proliferation, growth, and invasion as well as angiogenesis by various epigenetic mechanisms including DNA methylation, histone post‐translational modifications and non‐coding RNA deregulation, etc. In this review, we will be emphasizing on epigenetic mechanisms by which aflatoxins induce hepatocarcinogenesis. In the last section, we will also discuss various methodologies to control aflatoxin contamination and detoxification of aflatoxin adducts using natural substances that are potentially anti‐aflatoxins.
Systematic review of microvascular coupling devices for arterial anastomoses in free tissue transfer
Authors: Gundale Abhijit R. , Berkovic Yuro J. , Entezami Payam , Nathan Cherie‐Ann O. , Chang Brent A. 
Published: July 2020

AbstractBackgroundCoupling devices have become commonplace in performing venous anastomoses during microvascular free tissue transfer (FTT). However, arterial anastomoses are still most commonly performed using traditional microvascular suture techniques.ObjectiveTo describe the safety and feasibility of using microvascular coupling devices for free flap arterial anastomosis.MethodsA systematic review of English language literature was performed for studies that investigated the use of an arterial coupler for microvascular FTT in human patients. A comprehensive search of MEDLINE (January 1948 to August 2018), EMBASE (January 1974 to August 2018), and Web of Science was performed.ResultsFifteen studies were included. All studies were retrospective case series. A combined total of 395 arterial anastomoses were attempted with a coupling device. All studies except for one used the 3M Unilink/Synovis coupling device. One study used a novel absorbable coupling device. The coupling device was aborted and converted to a suture technique in 8.4% of attempted anastomoses. Rupture of the anastomotic device was reported in only 1 patient (0.3%). Thrombosis was also infrequent at 1.9%. The quality assessment showed a high risk of bias in all studies.ConclusionIn selected patients, coupling devices for arterial anastomoses have a good success rate with low rates of thrombosis based on limited quality evidence.
Assessment and Transplantation of Orphan Donor Livers: A Back‐to‐Base Approach to Normothermic Machine Perfusion
Authors: Reiling Janske , Butler Nick , Simpson Andrew , Hodgkinson Peter , Campbell Catherine , Lockwood David , Bridle Kim , Santrampurwala Nishreen , Britton Laurence , Crawford Darrell , Dejong Cornelius H. C. , Fawcett Jonathan 
Published: July 2020

Globally, a large proportion of donor livers are discarded due to concerns over inadequate organ quality. Normothermic machine perfusion (NMP) allows for hepatocellular and biliary viability assessment prior to transplantation and might therefore enable the safe use of these orphan donor livers. We describe here the first Australasian experience of NMP‐preserved liver transplants using a ‘back‐to‐base’ approach, where NMP was commenced at the recipient hospital following initial static cold storage. In the preclinical phase, 10 human donor livers declined for transplantation (7 from donation after circulatory death [DCD] and 3 from donation after brain death [DBD]) were perfused using a custom‐made NMP setup. Subsequently, 10 orphan donor livers (5 from DCD and 5 from DBD) underwent NMP and viability assessment on the OrganOx metra device (OrganOx Limited, Oxford, United Kingdom). Both hepatocellular and biliary viability criteria were used. The median donor risk index was 1.53 (1.16‐1.71), and the median recipient Model for End‐Stage Liver Disease score was 17 (11‐21). In the preclinical phase, ‘back‐to‐base’ NMP was deemed suitable and feasible. In the clinical phase, each graft met predefined criteria for implantation during NMP and was subsequently transplanted. Five (50%) recipients developed early allograft dysfunction based on peak aspartate aminotransferase. To date, all grafts function satisfactorily, and none of the 5 recipients who received a DCD liver have developed cholangiopathy. The OrganOx metra using a back‐to‐base approach has enabled the safe use of 10 high‐risk orphan donor livers with 100% 6‐month patient and graft survival. NMP improved surgeon confidence to use orphan donor livers and has enabled a safe expansion of the donor pool.
A Phase‐Changing Polymer Film for Broadband Smart Window Applications
Authors: Xie Yu , Guan Fangyi , Li Zhou , Meng Yuan , Cheng Jiang , Li Lu , Pei Qibing 
Published: July 2020

AbstractSmart windows (SWs) with tunable opacity are sought to regulate solar‐irradiation and privacy protection. A new smart window material based on a phase‐changing polymer that can be reversibly switched between a semicrystalline, opaque state and an amorphous, transparent state is introduced. The polymer film is a network of the phase‐changing poly(stearyl acrylate) crosslinked with a poly(ethylene oxide) oligomer. The two constituent polymers show strong phase separation. The transmission switching of the resulting copolymer film is resulted from the combination of three different mechanisms: reversible phase changing of the poly(stearyl acrylate) component, phase separation between the two distinct constituent polymers, and a large change of refractive index of the phase‐changing polymer during the amorphous‐to‐semicrystalline transition. The opaqueness switching can be reversed and repeated for more than 500 cycles of heating and cooling. A silver nanowire (AgNW)‐based transparent heater is combined with the SW film to control the semicrystalline‐to‐amorphous phase transition. The resulting smart window exhibits a high infrared transmittance modulation (ΔTIR) of 80.4% and solar transmittance modulation (ΔTsolar) of 70.2%, which significantly outperform existing thermochromic smart windows.
Activation of transcription factor Nrf2 to counteract mitochondrial dysfunction in Parkinson's disease
Authors: Bento‐Pereira Claudia , Dinkova‐Kostova Albena T. 
Published: July 2020

AbstractParkinson's disease (PD) is a progressive neurodegenerative disorder, for which no disease‐modifying therapies are available to date. Although understanding of the precise aetiology of PD is incomplete, it is clear that age, genetic predisposition and environmental stressors increase the risk. At the cellular level, oxidative stress, chronic neuroinflammation, mitochondrial dysfunction and aberrant protein aggregation have been implicated as contributing factors. These detrimental processes are counteracted by elaborate networks of cellular defence mechanisms, one of which is orchestrated by transcription factor nuclear factor‐erythroid 2 p45‐related factor 2 (Nrf2; gene name NFE2L2). A wealth of preclinical evidence suggests that Nrf2 activation is beneficial in cellular and animal models of PD. In this review, we summarise the current understanding of mitochondrial dysfunction in PD, the role of Nrf2 in mitochondrial function and explore the potential of Nrf2 as a therapeutic target for mitochondrial dysfunction in PD.
Decay rates for semilinear wave equations with vanishing damping and Neumann boundary conditions
Authors: Luo Jun‐Ren , Xiao Ti‐Jun 
Published: July 2020

The paper is concerned with the semilinear wave equations with time‐dependent damping γ(t)=α/(1+t) (α>0), under the effect of nonlinear source f behaving like a polynomial, and subject to Neumann boundary conditions. Constructing appropriate auxiliary functions, we obtain an explicit uniform decay rate estimate for the solutions of the equation in terms of the exponent of f, when α is large enough. On the other hand, via a new hyperbolic version of Dirichlet quotients, we show that the upper estimate is optimal in some case, which implies the existence of slow solutions.
Inflammatory Diseases and Vitamin E—What Do We Know and Where Do We Go?
Authors: Wallert Maria , Börmel Lisa , Lorkowski Stefan 
Published: July 2020

AbstractInflammation‐driven diseases and related comorbidities, such as the metabolic syndrome, obesity, fatty liver disease, and cardiovascular diseases cause significant global burden. There is a growing body of evidence that nutrients alter inflammatory responses and can therefore make a decisive contribution to the treatment of these diseases. Recently, the inflammasome, a cytosolic multiprotein complex, has been identified as a key player in inflammation and the development of various inflammation‐mediated disorders, with nucleotide‐binding domain and leucine‐rich repeat pyrin domain (NLRP) 3 being the inflammasome of interest. Here an overview about the cellular signaling pathways underlying nuclear factor “kappa‐light‐chain‐enhancer” of activated B‐cells (NF‐κB)‐ and NLRP3‐mediated inflammatory processes, and the pathogenesis of the inflammatory diseases atherosclerosis and non‐alcoholic fatty liver disease (NAFLD) is provided; next, the current state of knowledge for drug‐based and dietary‐based interventions for treating cardiovascular diseases and NAFLD is discussed. To date, one of the most important antioxidants in the human diet is vitamin E. Various in vitro and in vivo studies suggest that the different forms of vitamin E and also their derivatives have anti‐inflammatory activity. Recent publications suggest that vitamin E—and possibly metabolites of vitamin E—are a promising therapeutic approach for treating inflammatory diseases such as NAFLD.