bluuebunny/crossref_metadata_2025_split huggingface dataset:
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
Authors: Christensen Maria B. , Levy Amanda M. , Mohammadi Nazanin A. , Niceta Marcello , Kaiyrzhanov Rauan , Dentici Maria Lisa , Al Alam Chadi , Alesi Viola , Benoit Valérie , Bhatia Kailash P. , Bierhals Tatjana , Boßelmann Christian M. , Buratti Julien , Callewaert Bert , Ceulemans Berten , Charles Perrine , De Wachter Matthias , Dehghani Mohammadreza , D'haenens Erika , Doco‐Fenzy Martine , Geßner Michaela , Gobert Cyrielle , Guliyeva Ulviyya , Haack Tobias B. , Hammer Trine B. , Heinrich Tilman , Hempel Maja , Herget Theresia , Hoffmann Ute , Horvath Judit , Houlden Henry , Keren Boris , Kresge Christina , Kumps Candy , Lederer Damien , Lermine Alban , Magrinelli Francesca , Maroofian Reza , Vahidi Mehrjardi Mohammad Yahya , Moudi Mahdiyeh , Müller Amelie J. , Oostra Anna J. , Pletcher Beth A. , Ros‐Pardo David , Samarasekera Shanika , Tartaglia Marco , Van Schil Kristof , Vogt Julie , Wassmer Evangeline , Winkelmann Juliane , Zaki Maha S. , Zech Michael , Lerche Holger , Radio Francesca Clementina , Gomez‐Puertas Paulino , Møller Rikke S. , Tümer Zeynep 
Published: May 2022

AbstractBiallelic variants of the gene encoding for the zinc‐finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from five families. In this study, we obtained phenotype and genotype information of 26 further individuals from 16 families. Among the 27 different ZNF142 variants identified in the total of 35 individuals only four were missense. Missense variants may give a milder phenotype by changing the local structure of ZF motifs as suggested by protein modeling; but this correlation should be validated in larger cohorts and pathogenicity of the missense variants should be investigated with functional studies. Clinical features of the 35 individuals suggest that biallelic ZNF142 variants lead to a syndromic neurodevelopmental disorder with mild to moderate ID, varying degrees of delay in language and gross motor development, early onset seizures, hypotonia, behavioral features, movement disorders, and facial dysmorphism. The differences in symptom frequencies observed in the unpublished individuals compared to those of published, and recognition of previously underemphasized facial features are likely to be due to the small sizes of the previous cohorts, which underlines the importance of larger cohorts for the phenotype descriptions of rare genetic disorders.
Ultrasonography in dermatologic surgery: revealing the unseen for improved surgical planning
Authors: Crisan Diana , Wortsman Ximena , Alfageme Fernando , Catalano Orlando , Badea Alexandru , Scharffetter‐Kochanek Karin , Sindrilaru Anca , Crisan Maria 
Published: May 2022

SummaryUltrasonography (US) is a modern, in vivo imaging method, which is increasingly being used in dermatology as a complementary tool to clinical examination and dermoscopy. At higher frequencies (15 MHz and above), US is an established method for assessing benign and malignant skin lesions, locoregional staging, monitoring the therapeutic efficacy in various inflammatory skin conditions, and patient follow‐up. One field, which may increasingly benefit from performant imaging techniques such as US is dermatologic surgery. Preoperative imaging of cutaneous tumors, inflammatory skin conditions (hidradenitis suppurativa, abscesses, etc.), or nail pathology provide dermatologic surgeons with relevant information for an optimal surgical planning, identifying potential complex aspects which might require interdisciplinary approaches, herein sparing unnecessary surgical interventions and increasing patients' compliance. In this review, we discuss the increasing significance of US in the field of dermatologic surgery, as well as the spectrum of cutaneous pathology where sonography can aid in the preoperative setting to provide a more precise, individualized surgical planning for better counseling to our patients and improved surgical results.
MicroRNA‐7a‐5p ameliorates diabetic peripheral neuropathy by regulating VDAC1/JNK/c‐JUN pathway
Authors: Jiao Yang , Zhang Yue‐Hua , Wang Chun‐Yan , Yu Yang , Li Yi‐Ze , Cui Wei , Li Qing , Yu Yong‐Hao 
Published: May 2022

AbstractAimsThe pathogenesis of diabetic peripheral neuropathy (DPN) is complex, and its treatment is extremely challenging. MicroRNA‐7a‐5p (miR‐7a‐5p) has been widely reported to alleviate apoptosis and oxidative stress in various diseases. This study aimed to investigate the mechanism of miR‐7a‐5p in DPN.MethodsDPN cell model was constructed with high‐glucose–induced RSC96 cells. Cell apoptosis and viability were detected by flow cytometry analysis and cell counting kit‐8 (CCK‐8) assay respectively. The apoptosis and Jun N‐terminal kinase (JNK)/c‐JUN signalling pathway‐related proteins expression were detected by Western blotting. The intracellular calcium content and oxidative stress levels were detected by flow cytometry and reagent kits. Mitochondrial membrane potential was evaluated by tetrechloro‐tetraethylbenzimidazol carbocyanine iodide (JC‐1) staining. The targeting relationship between miR‐7a‐5p and voltage‐dependent anion‐selective channel protein 1 (VDAC1) was determined by RNA pull‐down assay and dual‐luciferase reporter gene assay. The streptozotocin (STZ) rat model was constructed to simulate DPN in vivo. The paw withdrawal mechanical threshold (PTW) was measured by Frey capillary line, and the motor nerve conduction velocity (MNCV) was measured by electromyography.ResultsMiR‐7a‐5p expression was decreased, while VDAC1 expression was increased in HG‐induced RSC96 cells and STZ rats. In HG‐induced RSC96 cells, miR‐7a‐5p overexpression promoted cell proliferation, inhibited apoptosis, down‐regulated calcium release, improved mitochondrial membrane potential and repressed oxidative stress response. MiR‐7a‐5p negatively regulated VDAC1 expression. VDAC1 knockdown improved cell proliferation activity, suppressed cell apoptosis and mitochondrial dysfunction by inhibiting JNK/c‐JUN pathway activation. MiR‐7a‐5p overexpression raised PTW, restored MNCV and reduced oxidative stress levels and nerve cell apoptosis in STZ rats.ConclusionMiR‐7a‐5p overexpression ameliorated mitochondrial dysfunction and inhibited apoptosis in DPN by regulating VDAC1/JNK/c‐JUN pathway.
Venous thromboembolism prophylaxis in hospitalized sickle cell disease and sickle cell trait patients
Authors: Ionescu Filip , Anusim Nwabundo , Zimmer Markie , Jaiyesimi Ishmael 
Published: May 2022

AbstractIntroductionSickle trait (Hb SA) or sickle disease (Hb SS) carries increased risk of venous thromboembolism (VTE). Hb SS patients are young and lack common comorbid conditions that qualify them for VTE prophylaxis (VTEP).MethodsRetrospective, multicenter analysis of Hb SS/Hb SA adult patients between January 2013 and December 2018.ResultsThere were 803 Hb SA (525 patients) and 1020 Hb SS admissions (262 patients). VTEP use was similar between Hb SA and controls (42% vs. 46%; p‐value = .06) and Hb SS and controls (45% vs. 42%; p‐value = .13). Hb SS/Hb SA patients more frequently received more than half of prescribed doses of VTEP. In multivariate analysis, increasing age and longer hospitalizations were positive predictors. Odds of VTEP use varied with treatment site for Hb SS patients, whereas comorbid conditions, admission hemoglobin and platelet count were not predictive. By contrast, in Hb SA patients, comorbid conditions, higher admission hemoglobin, and higher admission platelet counts raised the odds of VTEP being offered.ConclusionsVTEP is underused in Hb SS/Hb SA patients. There may be a trend toward offering more VTEP in Hb SS disease, but not in Hb SA patients, where VTEP prescribing is driven by comorbid conditions rather than genotype. Patient compliance does not appear to play a major role, but intercenter variability suggests provider education may improve VTEP use.
Impoundment increases methane emissions in Phragmites‐invaded coastal wetlands
Authors: Sanders‐DeMott Rebecca , Eagle Meagan J. , Kroeger Kevin D. , Wang Faming , Brooks Thomas W. , O'Keefe Suttles Jennifer A. , Nick Sydney K. , Mann Adrian G. , Tang Jianwu 
Published: May 2022

AbstractSaline tidal wetlands are important sites of carbon sequestration and produce negligible methane (CH4) emissions due to regular inundation with sulfate‐rich seawater. Yet, widespread management of coastal hydrology has restricted tidal exchange in vast areas of coastal wetlands. These ecosystems often undergo impoundment and freshening, which in turn cause vegetation shifts like invasion by Phragmites, that affect ecosystem carbon balance. Understanding controls and scaling of carbon exchange in these understudied ecosystems is critical for informing climate consequences of blue carbon restoration and/or management interventions. Here, we (1) examine how carbon fluxes vary across a salinity gradient (4–25 psu) in impounded and natural, tidally unrestricted Phragmites wetlands using static chambers and (2) probe drivers of carbon fluxes within an impounded coastal wetland using eddy covariance at the Herring River in Wellfleet, MA, United States. Freshening across the salinity gradient led to a 50‐fold increase in CH4 emissions, but effects on carbon dioxide (CO2) were less pronounced with uptake generally enhanced in the fresher, impounded sites. The impounded wetland experienced little variation in water‐table depth or salinity during the growing season and was a strong CO2 sink of −352 g CO2‐C m−2 year−1 offset by CH4 emission of 11.4 g CH4‐C m−2 year−1. Growing season CH4 flux was driven primarily by temperature. Methane flux exhibited a diurnal cycle with a night‐time minimum that was not reflected in opaque chamber measurements. Therefore, we suggest accounting for the diurnal cycle of CH4 in Phragmites, for example by applying a scaling factor developed here of ~0.6 to mid‐day chamber measurements. Taken together, these results suggest that although freshened, impounded wetlands can be strong carbon sinks, enhanced CH4 emission with freshening reduces net radiative balance. Restoration of tidal flow to impounded ecosystems could limit CH4 production and enhance their climate regulating benefits.
Depression and quality of life in older adults with atrial fibrillation: A cross‐sectional community‐based study
Authors: Senoo Keitaro , Yukawa Arito , Ohkura Takashi , Iwakoshi Hibiki , Nishimura Tetsuro , Teramukai Satoshi , Narumoto Jin , Matoba Satoaki 
Published: May 2022

AimIn the older population, depression often occurs alongside physical illness. A cross‐sectional community‐based study examined the relationship between atrial fibrillation (AF), depression, and quality of life (QoL), and the impact of chest symptoms.MethodsA total of 1364 older adults (≥65 years) who attended AF awareness symposia from July 2019 to December 2020 provided consent to participate in the study and valid questionnaire responses. Depression was assessed with the Geriatric Depression Scale (GDS)‐15, and QoL with the 12‐item Short‐Form Health Survey (SF‐12).ResultsAF patients (n = 130) were divided into symptomatic AF (n = 87) and asymptomatic AF (n = 43) groups. Depressive state and physical component summary (PCS) and mental component summary (MCS) in the SF‐12 were compared with the control group (non‐AF group without chest symptoms, n = 911), extracted from the same symposium participants. The depression rate (defined as GDS‐15 ≥ 10) was 9.2% in symptomatic AF patients, 2.3% in asymptomatic AF patients, and 2.7% in controls. The mean PCS and MCS in each group were 43.4 ± 10.8 and 54.8 ± 8.6, 44.6 ± 10.7 and 57.3 ± 7.3, and 48.5 ± 7.9 and 56.7 ± 6.8, respectively. Multivariate regression analysis showed that symptomatic AF patients had a higher risk of depression (odds ratio: 3.46, 95% confidence interval (CI) 1.27–8.57, P = 0.01) and poor QoL (PCS: B −3.17, 95% CI −5.05 to −1.29, P = 0.001 and MCS: B −1.80, 95% CI −3.45 to −0.16, P = 0.03) compared with controls, but asymptomatic AF patients did not.ConclusionsIn a cross‐sectional community‐based study, symptomatic AF patients were vulnerable to depression and poor QoL, but asymptomatic AF patients were not. Geriatr Gerontol Int 2022; 22: 505–510.
The healthcare experiences of women with cardiac disease in pregnancy and postpartum: A qualitative study
Authors: Hutchens Jane , Frawley Jane , Sullivan Elizabeth A. 
Published: May 2022

AbstractIntroductionCardiac disease affects an estimated 1%–4% of all pregnancies and is a leading cause of maternal morbidity and mortality. There is a lack of data on the healthcare experiences of affected women to inform health service delivery and person‐centred care. This study sought to explore and understand the healthcare experiences of women with cardiac disease in pregnancy and postpartum.MethodsThis qualitative study used semi‐structured interviews with women who had cardiac disease in pregnancy or the first 12 months postpartum. Data were analysed using thematic analysis.ResultsParticipants were 25 women with pre‐existing or newly diagnosed acquired, genetic and congenital cardiac disease. Analysis of the interviews highlighted the discrepancy between care aspirations and experiences. The participants had a wide range of cardiac diseases and timing of diagnoses, but had similar healthcare experiences of being dismissed, not receiving the information they required, lack of continuity of care and clinical guidelines and of feeling out of place within a healthcare system that did not accommodate their combined needs as a mother and a cardiac patient.ConclusionThis study identified a lack of person‐centred care and responsiveness of the healthcare system in providing fit‐for‐purpose healthcare for women with complex disease who are pregnant or new mothers. In particular, cardiac and maternity care providers have an opportunity to listen to women who are the experts on their emergent healthcare needs, contributing to development of the knowledge base on the healthcare experiences of having cardiac disease in pregnancy and postpartum.Patient or Public ContributionPublic and patient input into the value and design of the study was gained through NSW Heart Foundation forums, including the Heart Foundation's women's patient group.
The use of smart biosensors during a food safety incident: Consumers' cognitive‐behavioural responses and willingness to pay
Authors: Nocella Giuseppe , Wu Junjie , Cerroni Simone 
Published: May 2022

AbstractIntelligent and active packaging could allow consumers to control cognitive reactions linked to the risk of consuming food products contaminated by microbiological pathogens and thus mitigating negative consequences of food safety incidents. However, despite advances in technology, consumers' reactions and willingness to pay for active and intelligent packaging in the absence and presence of food safety incidents remain somewhat unexplored. To fill such a gap this study incorporates protection motivation theory (PMT) within a contingent valuation survey conducted in the UK to explore consumers' behavioural responses to risk communication in the absence and presence of a food safety incident. These responses were moderated by the possibility of buying hypothetical meat products marketed with biosensors informing consumers of the presence of bacteria post‐purchase. A singular approach was developed to identify the following four behavioural responses of the PMT's cognitive mediating process: no response, fear, low response and danger control. Results indicate that the theoretical components of PMT play a different role in the absence and presence of food safety incidents. Respondents who receive risk information are willing to pay more than other participants to adopt precautionary behaviour and that purchasing behaviour varied across these four cognitive‐behavioural responses. Governmental institutions, the food industry and retailers should consider working together to reassure consumers by investing in technology that may help consumers to mitigate fear during a food safety incident, but also to develop appropriate risk communication strategies that should focus more on the cognitive‐behavioural outcomes analysed in this study.
Effect and synergy of different exogenous additives on gel properties of the mixed shrimp surimi (Antarctic krill and white shrimp)
Authors: Zhang Biao , Guo Xuan , Lin Junxin , Sun Peizi , Ren Xiang , Xu Wei , Tong Yi , Li Dongmei 
Published: May 2022

SummaryThe object of this study was a high‐protein Antarctic krill ball which was made of mixed shrimp surimi (Antarctic krill and white shrimp). The effects of four different exogenous additives on gel properties and spatial structure of mixed shrimp surimi systems during processing were investigated by texture profile analysis, low‐field nuclear magnetic resonance, magnetic resonance imaging, Fourier‐transform infrared spectroscopy, scanning electron microscopy and rheology analysis, according to product formulation and processing conditions. Different exogenous additives improved distinctly the mixed shrimp surimi system. The use of the four exogenous additives combined had a synergistic promotional effect. Acetylated distarch adipate, egg white powder and soy protein isolate played a vital role in producing high‐protein Antarctic krill balls. The relatively limited improvement of transglutaminase could be attributed to processing temperature and the presence of autolytic enzymes originated intrinsically from Antarctic krill surimi.
Antioxidative, structural and thermal characterisation of simulated fermented matrix of quinoa, chia and teff with caseinate
Authors: Kataria Ankita , Sharma Savita , Khatkar Sunil Kumar 
Published: May 2022

SummaryThe present study was performed to study the simulated fermented matrix of quinoa, chia and teff with caseinate. Fermentation was carried out at a pH of 4.6, and complexes obtained upon 0, 2, 5 and 9 hours along with the final complex (pH 4.6) were analysed for total phenolic and flavonoid contents and antioxidant activities. The highest values were obtained for chia‐caseinate complex (TPC—21 mg GAE/g, TFC—37 mg QE/g, DPPH—27 mM TE/g, ABTS—13 mM TE/g, FRAP—25 mM TE/g and reducing power—13 mg AAE/g). Structural characterisation via FTIR analysis revealed the formation of a stable complex held mainly by hydrogen bonding and hydrophobic interactions. Moreover, it also suggested destabilisation of β‐sheet structures and enhanced gelation property. The appearance of the unsaturated lipid peak (1744 cm‐1; 2924–2926 cm‐1) in the chia‐caseinate complex implied superior nutritional functionality. The thermal analysis confirmed the denaturation of proteins and degradation of starch crystallites in matrices and also suggested the formation of bioactive peptides. Thus, it was concluded that these simulated fermented matrices may be used as a base for designing functional foods to achieve techno‐biofunctionality.
Transglutaminase and hydroxypropyl methyl cellulose enhance mechanical properties of whey protein concentrate film
Authors: Jiang Shujuan , Zhang Mengyuan , Jiang Shengnan , Tuo Yanfeng , Qian Fang , Mu Guangqing 
Published: May 2022

SummaryWhey protein and cellulose derivatives are abundant and renewable raw materials that provide an environmentally friendly alternative to fossil fuel sources used for food packaging. A novel biodegradable composite film comprising whey protein concentrates (WPC) aqueous solutions (10%, w/v) with different concentrations of Hydroxypropyl methylcellulose (HPMC) (0, 1, 2, 3, 4 and 5 wt% of WPC) was prepared in the present study. The effect of transglutaminase (TG) on the functional properties of the film was investigated. SDS‐PAGE profiles indicated that TG modulated the formation of intermolecular cross‐linking of WPC. FT‐IR results showed that HPMC modified the mechanical properties of WPC. Incorporation of HPMC decreased the transparency and improved the tensile strength and extensibility of the film. TG addition led to a significant enhancement of the mechanical properties of the film. These findings indicated that TG promoted the formation of WPC‐HPMC composite film with improved mechanical properties.
Comparison of the effect of exopolysaccharide‐producing lactic acid bacteria from sourdough on dough characteristics and steamed bread quality
Authors: Sha Hui Ying , Wang Qing Qing , Li Zhi Jian 
Published: May 2022

SummaryThe use of exopolysaccharide (EPS)‐producing lactic acid bacteria (LAB) is promising in sourdough fermentation. However, the knowledge of the effects of various species of LAB on steamed bread making remains limited. In this study, the effects of two LAB with high EPS‐producing capacity, namely Weissella cibaria L32 and Lactobacillus brevis L17 on dough fermentation and steamed bread quality were estimated. The addition of these two LAB strains significantly increased the titratable acidity and protease activity during the dough fermentation, especially L. brevis L17. Although the in situ EPS synthesised by LAB could improve the steamed bread quality, excessive acidification of L. brevis L17 would still increase the protease activity and thus destroy its gluten network structure. As a result, the steamed bread fermented with L. brevis L17 had the lowest specific volume and hardest texture in comparison with the steamed bread fermented with W. cibaria L32 and with added EPS produced by W. cibaria L32 and L. brevis L17. These results indicated that different EPS‐producing LAB exhibited distinctive dough fermentation characteristics, and the in situ EPS‐producing W. cibaria L32 could improve steamed bread quality, which confirmed its potential application in steamed bread making.
Umami and umami‐enhancing peptides from myofibrillar protein hydrolysates in low‐sodium dry‐cured Spanish mackerel (Scomberomorus niphonius) under the action of Lactobacillus plantarum
Authors: Bai Weidong , Liang Jinxin , Zhao Wenhong , Qian Min , Zeng Xiaofang , Tu Juncai , Yang Juan 
Published: May 2022

SummaryLactobacillus plantarum was involved in producing low‐salt (2%, w/w) dry‐cured Spanish mackerel, and its effect on the degradation of myofibrillar protein and production of umami peptides was investigated. Results showed that the dominant microbiome of the sample was Lactobacillus plantarum, accounting for 95.7% of the microbial community. The umami peptides in this dry‐cured mackerel were extracted and separated by ultra‐filtration and gel filtration chromatography and further identified by Nano‐LC–MS/MS. Five umami‐enhancing peptides, including TFYNELRV (1040 Da), TFYNELR (941 Da), TLFQPSF (838 Da), LYANNVL (805 Da) and FAGDDAPRAVFPS (1348 Da), were identified to be derived from myofibrillar protein, and the percentage of their hydrophobic amino acid were 42.85%, 33.33%, 57.14%, 57.14% and 53.84%, respectively. The synthetic peptides of these five umami peptides showed an umami‐enhancing threshold value ranging from 0.34 to 0.45 mg mL−1 through sensory evaluation. The SDS‐PAGE analysis exhibited that actin band intensity was decreased during the processing of dry‐cured mackerel. Therefore, Lactobacillus plantarum has the potential to improve the hydrolysis of myofibrillar protein to produce umami peptides in dry‐cured mackerel.