bluuebunny/crossref_metadata_2025_split huggingface dataset:
An imbalanced approach to governance? An analysis of the WHO's position on human genome editing
Authors: Thaldar Donrich , Shozi Bonginkosi 
Published: June 2023

AbstractIn 2021, the WHO Expert Advisory Committee on Developing Global Standards for Governance and Oversight of Human Genome Editing (the ‘Committee’) published its policy recommendations. It proposes, inter alia, a set of nine values and principles to inform the governance of human genome editing (HGE) and makes recommendations regarding how HGE can be regulated. While these proposals contain valuable contributions to the discourse on the global governance of HGE, they also contain elements that call for heightened attention to the risks of the technology, and a countervailing focus on the potential benefits of the technology is missing. The Committee ostensibly prioritises restricting HGE technology in the interest of society as a collective but, in doing so, neglects to consider the interests and rights of individuals. In this article, we suggest that this approach is imbalanced insofar as it fails to give sufficient weight to the promise of this technology in considering the regulation of risks and disregards the importance of the fundamental liberties underlying the use of HGE in its discussion of values and principles that should guide governance. How this is problematic is illustrated with reference to the Committee's openness to using patents as HGE governance tools and its blanket rejection of ‘eugenics’. It is concluded that while the Committee makes some sensible recommendations on global governance, the Committee's approach of emphasising restrictions on HGE without also giving weight to the value of an open and liberal policy space is not something that liberal democratic states ought to follow.
The role of gut microbiota in cerebrovascular disease and related dementia
Authors: Cuartero María Isabel , García‐Culebras Alicia , Nieto‐Vaquero Carmen , Fraga Enrique , Torres‐López Cristina , Pradillo Jesús , Lizasoain Ignacio , Moro María Ángeles 
Published: June 2023

AbstractIn recent years, increasing evidence suggests that commensal microbiota may play an important role not only in health but also in disease including cerebrovascular disease. Gut microbes impact physiology, at least in part, by metabolizing dietary factors and host‐derived substrates and then generating active compounds including toxins. The purpose of this current review is to highlight the complex interplay between microbiota, their metabolites. and essential functions for human health, ranging from regulation of the metabolism and the immune system to modulation of brain development and function. We discuss the role of gut dysbiosis in cerebrovascular disease, specifically in acute and chronic stroke phases, and the possible implication of intestinal microbiota in post‐stroke cognitive impairment and dementia, and we identify potential therapeutic opportunities of targeting microbiota in this context.LINKED ARTICLESThis article is part of a themed issue From Alzheimer's Disease to Vascular Dementia: Different Roads Leading to Cognitive Decline. To view the other articles in this section visit http://onlinelibrary.wiley.com/doi/10.1111/bph.v181.6/issuetoc
Progression of fibrosis in liver transplant recipients with hepatitis C before and after sustained virologic response
Authors: Liu Alex , Angirekula Mounika , Elhawary Ahmed , Mara Kristin , Kulai Tasha , Leise Michael , Watt Kymberly D. 
Published: June 2023

AbstractBackground: Liver transplant (LT) recipients with untreated hepatitis C (HCV) are at risk for cirrhosis graft failure. The advent of direct acting antiviral agents (DAA) has improved outcomes in HCV.Aims: We aim to examine liver transplant outcomes and allograft fibrosis development/progression after sustained virologic response (SVR).Methods: We performed a retrospective cohort study of 226 consecutive liver transplant recipients with HCV from 2007 to 2018. The cohort was split into transplants pre (Group A) and post (Group B) 2014 to reflect the introduction of DAAs. Fibrosis was monitored with liver biopsy and non‐invasive imaging.Results: Group B had significantly improved HCV treatment rates and earlier SVR compared to Group A, with a cumulative incidence rate of SVR at 2 years of 86.7% versus 15.4% (HR = .11, p < .001). Prior to achieving SVR, Group A demonstrated worsening of fibrosis stage per year (+.21, p < .001) whereas Group B showed minimal change on protocol annual biopsy (−.02, p = .80). After SVR, most patients were followed non‐invasively and demonstrated stable or improved fibrosis stage over time. Patients undergoing transient elastography showed regression in fibrosis stage per year (−.19, p < .001).Conclusion: HCV patients undergoing LT after 2014 had higher rates of SVR and improved clinically relevant transplant outcomes, namely less graft loss and death relating to HCV. Fibrosis progression halted or improved after SVR in both cohorts, suggesting that LT recipients with SVR do not require fibrosis monitoring even with established fibrosis prior to SVR.
Hypoalbuminemia is a risk factor for invasive fungal infections and poor outcomes in infected kidney transplant recipients
Authors: Santos Angelie , Jorgenson Margaret R. , Osman Fauzia , Srivastava Aniruddha , Misch Elizabeth Ann , Garg Neetika , Aziz Fahad , Swanson Kurtis J. , Mohamed Maha , Djamali Arjang , Mandelbrot Didier , Parajuli Sandesh 
Published: June 2023

AbstractIntroductionInvasive fungal infections (IFI), are estimated to occur in 2%–14% of kidney transplant recipients (KTRs) in the current era of immune suppression and are associated with high mortality rates. We hypothesized that hypoalbuminemia in KTRs is a risk factor for IFI and would be associated with poor outcomes.MethodsIn this study, using data from a prospective cohort registry, we describe the frequency of IFI due to Blastomycosis, Coccidioidomycosis, Histoplasmosis, Aspergillosis, and Cryptococcus in KTRs with serum albumin levels measured 3–6 months before diagnosis. Controls were selected based on incidence density sampling. KTRs were divided into three groups based on the pre‐IFI serum albumin level: normal (≥4 g/dL), mild (3–4 g/dL), or severe (<3 g/dL) hypoalbuminemia. Outcomes of interest were uncensored graft failure after IFI and overall mortality.ResultsA total of 113 KTRs with IFI were compared with 348 controls. The incidence rate of IFI among individuals with normal, mild, and severe hypoalbuminemia was 3.6, 8.7, and 29.3 per 100 person‐years, respectively. After adjustment for multiple variables, the trend for risk of uncensored graft failure following IFI was greater in KTRS with mild (HR = 2.1; 95% CI, .75–6.1) and severe (HR = 4.47; 95% CI, 1.56–12.8) hypoalbuminemia (P‐trend < .001) compared to those with normal serum albumin. Similarly, mortality was higher in severe hypoalbuminemia (HR = 1.9; 95% CI, .67–5.6) compared to normal serum albumin (P‐trend < .001).ConclusionHypoalbuminemia precedes the diagnosis of IFI in KTRs, and is associated with poor outcomes following IFI. Hypoalbuminemia may be a useful predictor of IFI in KTRs and could be incorporated into screening algorithms.
Ischaemic stroke patients present sex differences in gut microbiota
Authors: Lledós Miquel , Prats‐Sánchez Luís , Llucià‐Carol Laia , Cárcel‐Márquez Jara , Muiño Elena , Cullell Natalia , Gallego‐Fabrega Cristina , Martín‐Campos Jesús M. , Aguilera‐Simón Ana , Guasch‐Jiménez Marina , Guisado‐Alonso Daniel , Ramos‐Pachón Anna , Martínez‐Domeño Alejandro , Izquierdo Artur , Marín Rebeca , Camps‐Renom Pol , Martí‐Fàbregas Joan , Fernández‐Cadenas Israel 
Published: June 2023

AbstractBackgroundGut microbiota plays a role in the pathophysiology of ischaemic stroke (IS) through the bidirectional gut–brain axis. Nevertheless, little is known about sex‐specific microbiota signatures in IS occurrence.MethodsA total of 89 IS patients and 12 healthy controls were enrolled. We studied the taxonomic differences of the gut microbiota between men and women with IS by shotgun metagenomic sequencing. To evaluate the causal effect of several bacteria on IS risk, we performed a two‐sample Mendelian randomisation (MR) with inverse‐variance weighting (IVW) using genome‐wide association analysis (GWAS) summary statistics from two cohorts of 5959 subjects with genetic and microbiota data and 1,296,908 subjects with genetic and IS data, respectively.Resultsα‐Diversity analysis measured using Observed Species (p = 0.017), Chao1 (p = 0.009) and Abundance‐based Coverage Estimator (p = 0.012) indexes revealed that IS men have a higher species richness compared with IS women. Moreover, we found sex‐differences in IS patients in relation to the phylum Fusobacteria, class Fusobacteriia, order Fusobacteriales and family Fusobacteriaceae (all Bonferroni‐corrected p < 0.001). MR confirmed that increased Fusobacteriaceae levels in the gut are causally associated with an increased risk of IS (IVW p = 0.02, β = 0.32).ConclusionsOur study is the first to indicate that there are gut microbiome differences between men and women with IS, identifying high levels of Fusobacteriaceae in women as a specific risk factor for IS. Incorporating sex stratification analysis is important in the design, analysis and interpretation of studies on stroke and the gut microbiota.
Clinical presentation and evaluation of epilepsy with eyelid myoclonia: Results of an international expert consensus panel
Authors: Smith Kelsey M. , Wirrell Elaine C. , Andrade Danielle M. , Choi Hyunmi , Trenité Dorothée Kasteleijn‐Nolst , Jones Hannah , Knupp Kelly G. , Mugar Jon , Nordli Douglas R. , Riva Antonella , Stern John M. , Striano Pasquale , Thiele Elizabeth A. , Zawar Ifrah 
Published: June 2023

AbstractObjectiveThe objective of this study was to determine areas of consensus among an international panel of experts for the clinical presentation and diagnosis of epilepsy with eyelid myoclonia (EEM; formerly known as Jeavons syndrome) to improve a timely diagnosis.MethodsAn international steering committee was convened of physicians and patients/caregivers with expertise in EEM. This committee summarized the current literature and identified an international panel of experts (comprising 25 physicians and five patients/caregivers). This international expert panel participated in a modified Delphi process, including three rounds of surveys to determine areas of consensus for the diagnosis of EEM.ResultsThere was a strong consensus that EEM is a female predominant generalized epilepsy syndrome with onset between 3 and 12 years of age and that eyelid myoclonia must be present to make the diagnosis. There was a strong consensus that eyelid myoclonia may go unrecognized for years prior to an epilepsy diagnosis. There was consensus that generalized tonic–clonic and absence seizures are typically or occasionally seen in patients. There was a consensus that atonic or focal seizures should lead to the consideration of reclassification or alternate diagnoses. There was a strong consensus that electroencephalography is required, whereas magnetic resonance imaging is not required for diagnosis. There was a strong consensus to perform genetic testing (either epilepsy gene panel or whole exome sequencing) when one or a combination of factors was present: family history of epilepsy, intellectual disability, or drug‐resistant epilepsy.SignificanceThis international expert panel identified multiple areas of consensus regarding the presentation and evaluation of EEM. These areas of consensus may be used to inform clinical practice to shorten the time to the appropriate diagnosis.
Spontaneous allelic variant in deafness–blindness gene Ush1g resulting in an expanded phenotype
Authors: Vartanian Vladimir , Krey Jocelyn F. , Chatterjee Paroma , Curtis Allison , Six Makayla , Rice Sean P. M. , Jones Sherri M. , Sampath Harini , Allen Charles N. , Ryals Renee C. , Lloyd R. Stephen , Barr‐Gillespie Peter G. 
Published: June 2023

AbstractRelationships between novel phenotypic behaviors and specific genetic alterations are often discovered using target‐specific, directed mutagenesis or phenotypic selection following chemical mutagenesis. An alternative approach is to exploit deficiencies in DNA repair pathways that maintain genetic integrity in response to spontaneously induced damage. Mice deficient in the DNA glycosylase NEIL1 show elevated spontaneous mutations, which arise from translesion DNA synthesis past oxidatively induced base damage. Several litters of Neil1 knockout mice included animals that were distinguished by their backwards‐walking behavior in open‐field environments, while maintaining frantic forward movements in their home cage environment. Other phenotypic manifestations included swim test failures, head tilting and circling. Mapping of the mutation that conferred these behaviors showed the introduction of a stop codon at amino acid 4 of the Ush1g gene. Ush1gbw/bw null mice displayed auditory and vestibular defects that are commonly seen with mutations affecting inner‐ear hair‐cell function, including a complete lack of auditory brainstem responses and vestibular‐evoked potentials. As in other Usher syndrome type I mutant mouse lines, hair cell phenotypes included disorganized and split hair bundles, as well as altered distribution of proteins for stereocilia that localize to the tips of row 1 or row 2. Disruption to the bundle and kinocilium displacement suggested that USH1G is essential for forming the hair cell's kinocilial links. Consistent with other Usher type 1 models, Ush1gbw/bw mice had no substantial retinal degeneration compared with Ush1gbw/+ controls. In contrast to previously described Ush1g alleles, this new allele provides the first knockout model for this gene.
Association between the anthropometric measurements and dietary habits on telomere shortening in healthy older adults: A‐cross‐sectional study
Authors: Barcın‐Güzeldere Hatice Kübra , Aksoy Meral , Demircan Turan , Yavuz Mervenur , Beler Mahmut 
Published: June 2023

AimThis study aimed to evaluate the effect of anthropometric measurements and dietary habits on telomere length in healthy older residents in rural and urban areas.MethodsThis was a cross‐sectional study. The study population included 81 healthy older individuals aged ≥80 years. A quantitative food frequency questionnaire was used to determine dietary habits. Anthropometric measurements were taken by researchers. The telomere length of individuals was determined from leukocytes using quantitative polymerase chain reaction.ResultsUrban women had longer telomeres than rural women (P < 0.05). Rural men had significantly higher hip circumference, middle‐upper arm circumference and fat‐free mass than urban men (P < 0.05). It was shown that while fresh vegetable consumption was higher in rural areas, carbonated drink consumption was higher in urban areas (P < 0.05). In women, homemade bread and sugar consumption were higher in rural areas, and honey consumption was higher in urban (P < 0.05). Red meat, milk‐based dessert and pastry consumption explain telomere shortening by 22.5%, 24.8% and 17.9%, respectively. In addition, the model based on anthropometric measurements also contributes to explaining telomere shortening by 42.9%.ConclusionRed meat, milk‐based dessert and pastry consumption, and waist circumference, hip circumference, waist‐to‐hip ratio and waist‐to‐height ratio are associated with telomere length. Longer telomeres are associated with a healthy, balanced, adequate diet and maintaining a healthy body weight/proportion, and they are crucial for achieving healthy aging.Geriatr Gerontol Int 2023; 23: 565–572.
Survey of physicians' and patients' understanding, perceptions, and attitudes toward depressive state in atrial fibrillation
Authors: Yukawa Arito , Ueno Daisuke , Narumoto Jin , Matoba Satoaki , Senoo Keitaro 
Published: June 2023

BackgroundAtrial fibrillation (AF) is the most common sustained arrhythmia among older people and has a significant impact on quality of life. However, it is not always perceived as a serious mental health risk. This study investigated the understanding, perceptions, and attitudes toward the risk of depressive state associated with older patients with AF.MethodsWe conducted a quantitative survey in April–June 2021 among patients with AF aged ≥65 years (n = 156), and physicians or cardiologists attending at least 10 older patients with AF annually (n = 158).ResultsIn total, 45% of patients considered AF a cause of a depressive state. In contrast, 16% of physicians reported that they considered AF a cause of a depressive state. Fifty‐two percent of the patients had experienced a depressive state. Of these, 98% expressed that a depressive state lowered their quality of life. Two of the three patients reported that they would consult their physicians if they felt depressed. By contrast, 30% of physicians responded that even if they perceived their patients as depressed, they prescribe anti‐anxiety medication but do not refer the patient to psychiatrists. Of the physicians, 50% stated that they did not regard the association of AF and depressive state as serious, although both physicians and patients understood that negative anxiety, such as fear of AF attacks, strokes, or heart failure, was the most important contributor to a depressive state.ConclusionEstablishing mental healthcare involving physicians together with psychiatrists is necessary to improve the mental and physical health outcomes for older patients with AF. Geriatr Gerontol Int 2023; 23: 543–548.
Porous ceramics derived from steel slag/coal gangue mixtures using cigarette butts as the pore‐forming agent
Authors: Liu Wenjie , Wang Yang , Li Jingtao , Li Baorang 
Published: June 2023

AbstractFabrication of ceramic materials with interconnected pores is necessary to improve thermal energy storage efficiency in high‐temperature infiltration technology. In the present study, industrial wastes such as coal gangue, steel slag, etc., were selected as the raw materials to prepare ceramics with interconnected pores. By adopting 50% cigarette butts as the pore‐forming agent, steel slag–coal gangue mixtures with a mass ratio of steel slag to coal gangue of 1:9 were sintered at 1100°C, and ceramics with interconnected elongated pores were prepared successfully. The highest apparent porosity and lowest volume density of the as‐prepared ceramics were ca. 73% and .74 g/cm3, respectively. Further measurements of the thermophysical properties indicated that no obvious mass loss was observed in the temperature range from ambient temperature to 800°C. The maximum values of specific heat and thermal conductivity were 1.38 J/(g K) and 1.661 W/(m K), respectively, and meanwhile the minimum compressive strength could exceed 3.5 MPa. These research results implied that the as‐prepared steel slag–coal gangue ceramics can provide long‐term service and offer excellent thermal stability over a wide temperature range. Therefore, they should have potential applications in high‐temperature infiltration technology.
Measurement of immature platelet fraction is useful in the differential diagnosis of MYH9 disorders
Authors: Kouno Hiroyoshi , Kunishima Shinji , Takebe Junko , Uchiyama Toru , Kaname Tadashi , Ishiguro Akira 
Published: June 2023

AbstractIntroductionAlthough the presence of large and giant platelets is important in screening for MYH9 disorders, platelet morphology evaluation is dependent on operator subjectivity. Immature platelet fraction (IPF%) is widely used in clinical practice because of its rapidity and reproducibility; however, IPF% has been rarely analyzed in MYH9 disorders. Therefore, our study aimed to clarify the usefulness of IPF% in the differential diagnosis of MYH9 disorders.MethodsWe assessed 24 patients with MYH9 disorders, 10 with chronic immune thrombocytopenia (cITP), 14 with myelodysplastic syndromes (MDS) with thrombocytopenia (<100 × 109/L), and 20 healthy volunteers. Platelet‐related data, including IPF% and platelet morphology (diameter, surface area, and staining), were retrospectively analyzed.ResultsMedian IPF% in MYH9 disorders, 48.7%, was significantly higher than in all other groups (cITP: 13.4%, MDS: 9.4%, controls: 2.6%). IPF% in MYH9 disorders was significantly negatively correlated with platelet count and significantly positively correlated with the diameter and surface area of platelets, but a correlation was not found between IPF% and platelet staining. The area under the curve of IPF% for the differential diagnosis of MYH9 disorders was 0.987 (95% CI: 0.969–1.000), with a sensitivity of 95.8% and specificity of 93.2% when the cutoff value of IPF% was 24.3%.ConclusionOur study strongly suggests that IPF% is useful in the differential diagnosis between MYH9 disorders and other types of thrombocytopenia.
Persistent symptoms of maternal post‐traumatic stress following childbirth across the first months postpartum: Associations with perturbations in maternal behavior and infant avoidance of social gaze toward mother
Authors: Rousseau Sofie , Feldman Tamar , Shlomi Polachek Inbal , Frenkel Tahl I. 
Published: June 2023

AbstractRecent literature identifies childbirth as a potentially traumatic event, following which mothers may develop symptoms of Post‐Traumatic‐Stress‐Following‐Childbirth (PTS‐FC). The current study examines whether stable symptoms of PTS‐FC during the early postpartum period may impose risk for perturbations in maternal behavior and infant social‐engagement with mother, controlling for comorbid postpartum internalizing symptoms. Mother‐infant dyads (N = 192) were recruited from the general population, during the third trimester of pregnancy. 49.5% of the mothers were primipara, and 48.4% of the infants were girls. Maternal PTS‐FC was assessed at 3‐day, 1‐month and 4‐month postpartum, via self‐report and clinician‐administered interview. Latent Profile Analysis generated two profiles of symptomology: “Stable‐High‐PTS‐FC” (17.0%), and “Stable‐Low‐PTS‐FC” (83%). Membership in the “Stable‐High‐PTS‐FC” profile associated with perturbed maternal sensitivity, which was in turn significantly associated with infant avoidance of social gaze toward mother (Indirect effect β = −0.15). Results suggest the need for early screening and inform the planning of early preventive interventions.
Evaluation of oral health‐related quality of life following dental rehabilitation under general anesthesia in Turkish children with early childhood caries
Authors: Öztürk Gülce , Gümüş Hüsniye 
Published: June 2023

AbstractBackgroundEarly childhood caries (ECC) is one of the most common dental problems, which often require dental rehabilitation with general anesthesia (DRGA).AimTo assess the short‐ and long‐term effects of DRGA on children and their families' oral health‐related quality of life (OHRQoL) in preschool children, the incidence of complications on the first day, and the factors affecting them and parental satisfaction.DesignA total of 150 children treated for ECC under DRGA were included in the study. OHRQoL was assessed on the day of DRGA, 4 weeks, and 1 year after treatment using the Early Childhood Oral Health Impact Scale (ECOHIS). The incidence of complications and parental satisfaction with DRGA were evaluated. The data were analyzed for statistical significance (p < .05).ResultsIn total, 134 patients were re‐evaluated at the end of the fourth week and 120 at the end of the first year. The average ECOHIS scores before and after DRGA (4 weeks and 1 year) were 18.1 ± 8.5, 3.1 ± 3.9, and 5.9 ± 6.2, respectively. After DRGA, 29.2% of the children reported at least one complication. Ninety‐one percent of the parents reported that they were satisfied with DRGA.ConclusionDRGA has a positive effect on the OHRQoL of Turkish preschool children with ECC and is highly evaluated by their parents.