bluuebunny/crossref_metadata_2025_split huggingface dataset:
Six new cases of CRB2‐related syndrome and a review of clinical findings in 28 reported patients
Authors: Adutwum Michelle , Hurst Anna , Mirzaa Ghayda , Kushner Jessica D. , Rogers Caleb , Khalek Nahla , Cristancho Ana G. , Burrill Natalie , Seifert Michael E. , Scarano Maria I. , Schnur Rhonda E. , Slavotinek Anne 
Published: September 2022

AbstractThe Crumbs homolog‐2 (CRB2)‐related syndrome (CRBS‐RS) is a rarely encountered condition initially described as a triad comprising ventriculomegaly, Finnish nephrosis, and elevated alpha‐fetoprotein levels in maternal serum and amniotic fluid. CRB2‐related syndrome is caused by biallelic, pathogenic variants in the CRB2 gene. Recent reports of CRB2‐RS have highlighted renal disease with persistent proteinuria and steroid‐resistant nephrotic syndrome (SRNS). We report six new and review 28 reported patients with pathogenic variants in CRB2. We compare clinical features and variant information in CRB2 in patients with CRB2‐RS and in those with isolated renal disease. The kidneys were the most frequently involved body system and 11 patients had only renal manifestations with SRNS or nephrotic syndrome. Central nervous system involvement was the next most common manifestation, followed by cardiac findings that included Scimitar syndrome. There was a significant clustering of pathogenic variants for CRB2‐RS in exons 8 and 10, whereas pathogenic variants in exons 12 and 13 were associated with isolated renal disease. Further information is needed to determine optimal management but monitoring for renal and ocular complications should be considered.
Genetic overview of postaxial polydactyly: Updated classification
Authors: Ahmad Zaheer , Liaqat Romana , Palander Oliva , Bilal Muhammad , Zeb Shah , Ahmad Farooq , Jawad Khan Muhammad , Umair Muhammad 
Published: September 2022

AbstractPolydactyly or polydactylism, also known as a hyperdactyly, is a congenital limb defect with various morphologic phenotypes. Apart from physical and functional impairments, the presence of polydactyly is an indication of an underlying syndrome in the newborn. Usually, it follows as an autosomal dominant/recessive inheritance pattern with defects in the limb development's anteroposterior patterning. Although mutations in several genes have been associated with polydactyly; however, the exact underlying cause, pathways, and disease mechanisms are still unexplored, thus making it of multi‐factorial origin. Polydactyly is divided into three subtypes; radial, ulnar, and central polydactyly. So far, 11 loci (PAPA1‐PAPA11) and seven human genes have been reported to cause non‐syndromic postaxial polydactyly in humans, including the ZNF141, GLI3, IQCE, GLI1, FAM92A1, KIAA0825, and DACH1. In this review, we discuss emerging evidences of clinical and molecular characterization of polydactyly types in term of the involvement of newly associated genes and loci for non‐syndromic postaxial polydactyly, and how these might impact our understanding of the genetic mechanisms and molecular etiology involved in the cause of polydactyly.
Expanding the spectrum of KCNJ6‐related disorders: Milder phenotype with pathological startle responses
Authors: van Midden Vesna Marija , Kinsley Lisa , Fraint Avram , Krainc Dimitri , Mencacci Niccolò E. 
Published: September 2022

AbstractKeppen–Lubinsky syndrome is caused by pathogenic variants in KCNJ6, which encodes the inwardly rectifying channel subfamily J6. The four confirmed cases reported to date were characterized by severe intellectual disability, global developmental delay, feeding difficulties, and dysmorphic features. All but one of the cases also had a severe form of lipodystrophy, resulting in tightly adherent facial skin and appearance of premature aging. Here, we describe a 36‐year‐old female with a de novo pathogenic variant in KCNJ6 (NM_002240.5: c.460G>T; p.(Gly154Cys)) presenting with mild intellectual disability, subtle dysmorphic features, obsessive–compulsive disorder, and an exaggerated startle response. This case indicates that KCNJ6‐related disorders should be considered in patients with less pronounced dysmorphic features and milder cognitive impairment, as well as in patients with startle disorders.
Associations of plasma phosphorylated tau181 and neurofilament light chain with brain amyloid burden and cognition in objectively defined subtle cognitive decline patients
Authors: Huang Yanlu , Li Yuehua , Xie Fang , Guo Qihao 
Published: September 2022

AbstractAimsThere is increasing evidence that plasma biomarkers are specific biomarkers for Alzheimer's disease (AD) pathology, but their potential utility in Obj‐SCD (objectively defined subtle cognitive decline) remains unclear.MethodsA total of 234 subjects, including 65 with brain amyloid beta (Aβ) negative normal cognition (Aβ− NC), 58 with Aβ‐positive NC (Aβ+ NC), 63 with Aβ− Obj‐SCD, and 48 with Aβ+ Obj‐SCD were enrolled. Plasma Aβ42, Aβ40, Aβ42/Aβ40 ratio, phosphorylated tau181 (p‐tau181), neurofilament light chain (NfL), and total tau (T‐tau) were measured using Simoa assays. Logistic and linear regression analyses were used to examine the relationship between plasma biomarkers and brain amyloid, cognition, and imaging measures adjusting for age, sex, education, APOE ε4 status, and vascular risk scores. Receiver operating characteristics were used to evaluate the discriminative validity of biomarkers.ResultsAfter adjustment, only plasma p‐tau181 and NfL were significantly elevated in Aβ+ Obj‐SCD participants compared to Aβ− NC group. Elevated p‐tau181 was associated with brain amyloid accumulation, worse cognitive performance (visual episodic memory, executive function, and visuospatial function), and hippocampal atrophy. These associations mainly occurred in Aβ+ individuals. In contrast, higher NfL was correlated with brain amyloid burden and verbal memory decline. These associations predominantly occurred in Aβ− individuals. The adjusted diagnostic model combining p‐tau181 and NfL levels showed the best performance in identifying Aβ+ Obj‐SCD from Aβ− NC [area under the curve (AUC) = 0.814], which did not differ from the adjusted p‐tau181 model (AUC = 0.763).ConclusionsOur findings highlight that plasma p‐tau181, alone or combined with NfL, contributes to identifying high‐risk AD populations.
Connectivity between countries established by landbirds and raptors migrating along the African–Eurasian flyway
Authors: Guilherme João L. , Jones Victoria R. , Catry Inês , Beal Martin , Dias Maria P. , Oppel Steffen , Vickery Juliet A. , Hewson Chris M. , Butchart Stuart H. M. , Rodrigues Ana S. L. 
Published: September 2022

AbstractThe conservation of long‐distance migratory birds requires coordination between the multiple countries connected by the movements of these species. The recent expansion of tracking studies is shedding new light on these movements, but much of this information is fragmented and inaccessible to conservation practitioners and policy makers. We synthesized current knowledge on the connectivity established between countries by landbirds and raptors migrating along the African–Eurasian flyway. We reviewed tracking studies to compile migration records for 1229 individual birds, from which we derived 544 migratory links, each link corresponding to a species’ connection between a breeding country in Europe and a nonbreeding country in sub‐Saharan Africa. We used these migratory links to analyze trends in knowledge over time and spatial patterns of connectivity per country (across species), per species (across countries), and at the flyway scale (across all countries and all species). The number of tracking studies available increased steadily since 2010 (particularly for landbirds), but the coverage of existing tracking data was highly incomplete. An average of 7.5% of migratory landbird species and 14.6% of raptor species were tracked per country. More data existed from central and western European countries, and it was biased toward larger bodied species. We provide species‐ and country‐level syntheses of the migratory links we identified from the reviewed studies, involving 123 populations of 43 species, migrating between 28 European and 43 African countries. Several countries (e.g., Spain, Poland, Ethiopia, Democratic Republic of Congo) are strategic priorities for future tracking studies to complement existing data, particularly on landbirds. Despite the limitations in existing tracking data, our data and results can inform discussions under 2 key policy instruments at the flyway scale: the African–Eurasian Migratory Landbirds Action Plan and the Memorandum of Understanding on the Conservation of Migratory Birds of Prey in Africa and Eurasia.
Long‐term changes in body weight and serum cholesterol in heart transplant recipients
Authors: Miura Kyoko , Yu Regina , Entwistle Timothy R , McKenzie Scott C , Green Adèle C 
Published: September 2022

AbstractIntroductionLong‐term changes in weight and blood lipids beyond 12 months after heart transplantation are largely unknown. We quantified changes in weight, body mass index (BMI), blood cholesterol, and triglycerides in heart transplant recipients (HTRs) during the 36 months after transplantation, and we assessed the influence of statin therapy on these outcomes.MethodsRetrospective cohort study of adult HTRs, transplanted 1990–2017, in Queensland, Australia. From each patient's medical charts, we extracted weight, total cholesterol, triglycerides, and statin therapy at four time‐points: time of transplant (baseline), and 12‐, 24‐, 36‐month post‐transplant. Changes in weight and blood lipids were assessed according to baseline BMI.ResultsAmong 316 HTRs, 236 (median age 52 years, 83% males) with available information were included. During the 36 months post‐transplant, all patients gained weight (83.5–90.5 kg; p < .001), especially those with baseline BMI < 25.0 km/m2 (67.9–76.2 kg; p < .001). Mean blood cholesterol (4.60–4.90 mmol/L; p = .004) and mean blood triglycerides (1.79–2.18 mmol/L; p = .006) also increased significantly in all patients, particularly in those with baseline BMI ≥ 25.0 km/m2 but the differences were not significant (total cholesterol 4.42–5.13 mmol/L; triglycerides 1.76–2.47 mmol/L). Total cholesterol was highest in patients not taking statins, and levels differed significantly (p = .010) according to statin dosing changes during the 36 months post‐transplant.ConclusionPatients demonstrate significant rises in weight and blood lipids in the 36 months after heart transplantation.
Host preference of the tree‐killing bark beetle Polygraphus proximus across a geographic boundary separating host species
Authors: Takagi Etsuro 
Published: September 2022

AbstractThe life cycles of bark beetles are intimately linked to their host species. Therefore, bark beetle species are expected to show traits that vary among host species and across geographic ranges. The taxonomic proximity of host tree species can also influence host selection. Abies species (Pinaceae) native to Japan are genetically classified into three phylogenetic groups. Their natural distributions are separated by a distinct biogeographic boundary in Japan (i.e., the Tsugaru Strait, also referred to as Blakiston's Line). Therefore, I investigated the host preference of Polygraphus proximus Blandford (Coleoptera: Curculionidae, Scolytinae) within four allopatrically distributed Abies species across north and south of the Tsugaru Strait through field surveys and field choice experiments. Abies sachalinensis (F. Schmidt) Mast. is the only species native to Hokkaido, north of the Tsugaru Strait. Field observations and field host‐choice bioassays showed that A. sachalinensis was less severely attacked by P. proximus than was Abies veitchii Lindl. on both sides of the Tsugaru Strait. The beetles also preferred to attack Abies firma Siebold & Zucc. – which belongs to a genetically distinct group (i.e., section Momi) from that of A. veitchii and A. sachalinensis (i.e., section Balsamea) – over A. sachalinensis in both Hokkaido and Honshu. Although Abies homolepis Siebold & Zucc. also belongs to the section Momi, A. firma and A. veitchii had more attacks than A. homolepis. The results provide evidence that P. proximus does not show specialization across the various parts of their geographic range where the host species are different, and there is no positive correlation between taxonomic proximity and host preference for P. proximus.
Digital Module 29: Multidimensional Item Response Theory Equating
Authors: Kim Stella Y. 
Published: September 2022

AbstractIn this digital ITEMS module, Dr. Stella Kim provides an overview of multidimensional item response theory (MIRT) equating. Traditional unidimensional item response theory (IRT) equating methods impose the sometimes untenable restriction on data that only a single ability is assessed. This module discusses potential sources of multidimensionality and presents potential consequences of multidimensionality on equating. To remedy these effects, MIRT equating can be used as a viable alternative to traditional methods of IRT equating. In conducting MIRT equating, the choice of an appropriate MIRT model is necessary, and thus the module describes several existing MIRT models and illustrates each using hypothetical examples. After a brief description of MIRT models, an extensive review of the current literature is presented to identify gaps in the literature on MIRT equating. Then, the steps for conducting MIRT observed‐score equating are described. Finally, the module discusses practical considerations in applying MIRT equating to testing practices and suggests potential areas of research for future studies.
Ecological risk screening of sturgeons introduced for aquaculture in Vietnam
Authors: Bui Thuyet D. 
Published: September 2022

AbstractIntroduced non‐native species are major threats to global biodiversity. In Vietnam, non‐native sturgeons have been introduced and widely cultured, but their potential impacts on native aquatic ecosystems have not been screened. Therefore, this study aimed to investigate potential risks that sturgeons likely pose in Vietnam by using the Aquatic Species Invasiveness Screening Kit (AS‐ISK) and interpret outcomes within a management context. Results showed that the Basic Risk Assessment (BRA) scores were 9.0–13.5 and the combined BRA and Climate Change Assessment (BRA+CCA) scores were 5.0–9.5. All five sturgeon species and two hybrid sturgeons cultured in Vietnam were classified as medium risk of invasiveness. Central concerns relating to introduced sturgeons included transmission of new infectious disease agents, and predation and competition for food with native species, especially threatened species. Controlling pathways of sturgeon importation through quarantine processes and preventing sturgeon from escaping into natural waterways are required if sturgeon aquaculture is to be sustainable, native species are to be protected, and biodiversity is to be conserved over the long term.
Place‐making in waterscapes: Wetlands as palimpsest spaces of recreation
Authors: Gearey Mary 
Published: September 2022

AbstractThis paper argues that acknowledging the wide diversity of current recreational practices on English wetlands enables governance practitioners and site managers to appreciate the full extent of contemporary human engagements with these watery ecosystems. These insights can assist those tasked with managing wetland resources to develop more inclusive and sustainable development plans to support a wide range of actors whose connections to wetland spaces are important for their health, wellbeing and sense of self. Enabling sustainable future uses of wetlands will involve recognising and engaging with differential articulations of place‐making within these diverse waterscapes which themselves are in a constant state of transition. This calls our attention to the dynamic nature of wetlands, and the ways in which place‐making in these spaces shifts and adapts to the changing topography and biota within these waterscapes; each encounter with the space is slightly reconfigured and recast every time. Wetlands' liminality also extends to the diverse and often esoteric uses of these ecosystems for recreation in its most encompassing sense; as leisure spaces, places of renewal and as locations of place‐making practices. Drawing upon Barbara Bender's exploration of landscape as phenomenological palimpsest, this paper utilises empirical interview data drawn from a recent research project, ‘WetlandLIFE’, to explore how far contemporary human uses of wetlands engage with processes of restoration and reanimation. Making use of the different leisure narratives of the research participants across five English wetland sites, the paper explores the ways in which ‘place’ is differentially interpreted, enabled and enacted in these saturated spaces. These practises and performances can be functional, prosaic engagements with wetlands; painting, walking, photographing, sitting, reflecting. They can also be anarchic, counter‐cultural and ‘delinquent’; wild‐camping, raving, poaching, partying. The wide spectrum of behaviours and attitudes catalogued reveal the contested use and value of these waterscapes in contemporary contexts.
Patient perspectives on primary care for multimorbidity: An integrative review
Authors: Moody Elaine , Martin‐Misener Ruth , Baxter Larry , Boulos Leah , Burge Fred , Christian Erin , Condran Brian , MacKenzie Adrian , Michael Elizabeth , Packer Tanya , Peacock Kylie , Sampalli Tara , Warner Grace 
Published: September 2022

AbstractIntroductionImproving healthcare for people with multiple chronic or ongoing conditions is receiving increased attention, particularly due to the growing number of people experiencing multimorbidity (MM) and concerns about the sustainability of the healthcare system. Primary care has been promoted as an important resource for supporting people with MM to live well with their conditions and to prevent unnecessary use of health care services. However, traditional primary care has been criticized for not centring the needs and preferences of people with MM themselves. Our aim was to conduct a review that centred on the perspective of people with MM in multiple ways, including having patient partners co‐lead the design, conduct and reporting of findings, and focusing on literature that reported the perspective of people with MM, irrespective of it being experimental or nonexperimental.MethodsWe searched for published literature in CINAHL with Full Text (EBSCOhost) and MEDLINE All (Ovid). Findings from experimental and nonexperimental studies were integrated into collaboration with patient partners.ResultsTwenty‐nine articles were included in the review. Findings are described in five categories: (1) Care that is tailored to my unique situation; (2) meaningful inclusion in the team; (3) a healthcare team that is ready and able to address my complex needs; (4) supportive relationships and (5) access when and where I need it.ConclusionThis review supports a reorientation of primary care systems to better reflect the experiences and perspectives of people with MM. This can be accomplished by involving patient partners in the design and evaluation of primary care services and incentivizing collaboration among health and social supports and services for people with MM.Patient or Public ContributionPatient partners were involved in the design and conduct of this review, and in the preparation of the manuscript. Their involvement is further elucidated in the manuscript text.
Characteristics of the ideal healthcare services to meet adolescents' mental health needs: A qualitative study of adolescents' perspectives
Authors: Meldahl Laia G. , Krijger Lou , Andvik Maren M. , Cardenas Nicole E. , Cuddeford Oliver , Duerto Samuel , Game Julia R. , Ibenfeldt Maya , Mustafa Murad , Tong Mathias , Viksveen Petter 
Published: September 2022

AbstractIntroductionDespite increased focus on development of mental health services worldwide, many adolescents still hesitate to reach out to the services when they need them. This might be linked to the lack of adolescent involvement in the development of services. This study aimed to explore adolescents' perspectives on the ideal healthcare services to meet their mental health needs.MethodsA two‐stage qualitative study was carried out to explore the perspectives of adolescents on the healthcare services to support their mental health. In the first stage, data from 295 adolescents attending a mental health seminar were analysed using qualitative content analysis. In the second stage, in‐depth perspectives of 10 adolescent coresearchers were gathered through self‐reflection and group discussions to further explore the categories developed in the first stage. Thematic analysis was used to develop the themes answering the research question. Ten adolescent coresearchers planned the study, collected and analysed data and authored the manuscript, with the support of a senior researcher.ResultsFive themes describe adolescents' perspectives on the ideal healthcare services to meet their mental health needs: (1) Culturally Sensitive and Responsive; (2) Communication of Information; (3) Easy Access; (4) Variety of Support; and (5) Consistency. Culturally Sensitive and Responsive services influenced all other themes. The themes describe suggestions for mental health service improvement, including how to manage the barriers that adolescents face to receive help from the mental health services.DiscussionThis study highlights the importance of culturally sensitive and responsive services. It raises the need for an expanded definition of culture going beyond nationality and ethnic background. Adolescents need flexible services that meet their individual mental health needs. This has implications for practitioners, educators, system organizers and researchers, who should also involve adolescents in planning, implementing and assessing the services. There is a need for a self‐learning system to continuously adapt to user feedback.ConclusionThis study provides insight into adolescents' perspectives on the ideal mental health services. It offers suggestions for ways to improve services to better meet the individual mental health needs of adolescents. Additional research is needed to further develop and implement service changes, as well as to assess their acceptability, effectiveness, cost‐effectiveness and safety.Patient or Public ContributionThis is a study lead by adolescents. Adolescent coresearchers have, with the support of a senior researcher, planned and carried out the study, collected and analysed data and authored the manuscript.