bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutational landscape of phenylketonuria in Iran
Authors: Ajami Naser , Soleimani Anvar , Jafarzadeh‐Esfehani Reza , Hasanpour Mojtaba , Rashid Shomali Romina , Abbaszadegan Mohammad Reza 
Published: August 2023

AbstractTo date more than 1000 different variants in thePAHgene have been identified in patients with phenylketonuria (PKU). In Iran, several studies have been performed to investigate the genetics bases of the PKU in different parts of the country. In this study, we have analysed and present an update of the mutational landscape of thePAHgene as well as the population genetics and frequencies of detected variants for each cohort. Published articles on PKU mutations in Iran were identified through a comprehensive PubMed, Google Scholar, Web of Science (ISI), SCOPUS, Elsevier, Wiley Online Library and SID literature search using the terms: “phenylketonuria”, “hyperphenylalaninemia”, and “PKU” in combination with “Iran”, “Iranian population”, “mutation analysis”, and “Molecular genetics”. Among the literature‐related to genetics of PKU, 18 studies were on the PKU mutations. According to these studies, in different populations of Iran 1497 patients were included for mutation detection that resulted in detection of 129 different mutations. Results of genetic analysis of the different cohorts of Iranian PKU patients show that the most prevalent mutation in Iran is the pathogenic splice variant c.1066‐11G > A, occurring in 19.54% of alleles in the cohort. Four other common mutations were p.Arg261Gln, p.Pro281Leu, c.168 + 5G > C and p.Arg243Ter (8.18%, 6.45%, 5.88% and 3.7%, respectively). One notable feature of the studied populations is its high rate of consanguineous marriages. Considering this feature, determining the prevalent PKU mutations could be advantageous for designing screening and diagnostic panels in Iran.
Micro‐sequences of anger and shame and non‐suicidal self‐injury in youth: an ecological momentary assessment study
Authors: Kudinova Anastacia Y. , Brick Leslie A. , Armey Michael , Nugent Nicole R. 
Published: August 2023

ObjectiveNon‐suicidal self‐injury (NSSI) is a significant mental health concern with the highest prevalence among adolescents. NSSI has been conceptualized as one of the maladaptive strategies to cope with challenging affect or a form of self‐punishment. Although characterizing moment‐to‐moment associations between shame and NSSI in individuals' real‐world environment and partitioning between‐ and within‐person effects is critical for mobile and timely interventions, most studies examined habitual experiences of negative affective states and focused on adults.MethodIn this study, we focused on in vivo anger at self and others and shame and NSSI among 158 adolescents 3 weeks following their psychiatric hospitalizations using ecological momentary assessment (EMA) technology.ResultsWe found that greater between‐person levels of anger at self and others were linked to a higher number of subsequent NSSI occurrences within a day. These findings remained primarily unchanged when we statistically adjusted for participants' age, sex assigned at birth, the number of current psychiatric diagnoses, EMA response rates, and youth lifetime history of SI. Within‐person increases in NSSI were linked to increased anger at self over and beyond between‐person average levels of NSSI.ConclusionsThese findings highlight the potential regulatory role of NSSI to decrease negative affective states and point to the clinical utility of assessing and early mobile interventions targeting challenging affect in youth.
Combination of fractional carbon dioxide laser with recombinant human collagen in periocular skin rejuvenation
Authors: Wu Hui‐Hui , Chen Mei‐Qing , Liu Juan‐Hua , Song Lu‐Li , Luo Di‐Qing , Lu Jing‐Fa , Zhao Yu‐Kun 
Published: August 2023

AbstractBackgroundThe most visible sign of facial aging is often seen in the periocular area. However, periocular rejuvenation remains challenging due to the particularity of periocular anatomic locations.AimsWe aimed to evaluate the efficacy and safety of the fractional‐ablative CO2 laser‐facilitated recombinant human collagen permeation in periocular rejuvenation.Patients/MethodsThis 3‐month prospective single‐blinded and self‐controlled trial enrolled 26 patients with periocular aging who underwent the treatments of fractional‐ablative CO2 laser along with laser‐facilitated recombinant human collagen permeation. Following the treatments, the patients were quantitatively assessed by various periocular skin aging indices before and after the treatment and monitored for any related adverse events.ResultsThe patients showed significant improvements with the periocular skin aging indices 3 months after the treatments, which were detailed with a 47.3% decrease in lower eyelid skin rhytids, a 41.4% decrease in the lower eyelid skin texture, a 35.0% decrease in the static crow's feet, a 29.3% decrease in the amount of upper eyelid laxity, and a 20.2% increase in the MRD1 as compared with baseline (p < 0.05). Moreover, total skin thickness under ultrasound was increased in both upper and lower eyelids (5.6% and 3.3%, p < 0.05, respectively). Moreover, six patients (23.1%, 6/26) had erythema for 2 weeks, and two (2/26, 7.7%) had mild hyperpigmentation for 3 months.ConclusionsFractional‐ablative CO2 laser combined with laser‐facilitated recombinant human collagen permeation can be a safe and effective treatment for periocular rejuvenation.
Development of monoclonal antibodies to target the large surface protein of hepatitis B virus and their use in therapeutic and diagnostic applications
Authors: Paul Subha Sankar , Patwa Som Mohanlal , Tan Yee‐Joo 
Published: August 2023

AbstractOver 250 million people are living with chronic infection caused by the hepatitis B virus (HBV). HBV has three surface proteins, namely small (SHBs), medium (MHBs) and large (LHBs), and they play different roles in the virus life cycle. The approved hepatitis B vaccine only contains the SHBs protein and many studies have focused on characterising the functional domains in SHBs. Although the LHBs protein is less studied, recent studies have shown that it plays important roles in mediating viral entry, replication and assembly. Over the years, there have been major advancements in monoclonal antibody (mAb) discovery tools and multiple mAbs have been developed to specifically target the preS1 domain in LHBs. We summarise the HBV infection systems and antibody discovery strategies that have been utilised by various research groups to assess the potential use of anti‐preS1 mAbs as therapeutic antibodies against HBV or in the development of new diagnostic assays.
First report of medulloblastoma in a patient with MUTYH‐associated polyposis
Authors: Villy Marie‐Charlotte , Warcoin Mathilde , Filser Mathilde , Buecher Bruno , Golmard Lisa , Suybeng Voreak , Schwartz Mathias , Bieche Ivan , Vacher Sophie , Laurence Valérie , Bourdeaut Franck , Bernier Michèle , Gutman Tom , Stoppa‐Lyonnet Dominique , Masliah‐Planchon Julien , Colas Chrystelle 
Published: August 2023

AbstractAimsThe mutY DNA glycosylase encoded by the MUTYH gene prevents G:C → T:A transversions through the base excision repair DNA repair system. Germline biallelic pathogenic variants in MUTYH cause an adenomatous polyposis called MUTYH‐associated polyposis (MAP), an autosomal recessive disease (OMIM: 608456), with an increased risk of colorectal cancer. Digestive lesions in this context show an excess of G:C → T:A transversions, individualising a specific mutational signature associated with MUTYH deficiency called signature SBS36. Predisposition to other tumours in patients with germline biallelic pathogenic variants in MUTYH is suspected but remains unclear. We report the first case of medulloblastoma in a patient with MAP, carrying the homozygous pathogenic variant c.1227_1228dup, p.(Glu410Glyfs*43) in MUTYH.MethodsWhole exome sequencing was performed on the medulloblastoma to enlighten single nucleotide variants of interest, microsatellite status and mutational signature. The objective was to determine the involvement of MUTYH deficiency in the oncogenesis of this medulloblastoma.ResultsThe medulloblastoma has the mutational signature SBS36 and driver pathogenic variants in CTNNB1, PTCH1 and KDM6A corresponding to G:C → T:A transversions, suggesting a role of MUTYH deficiency in oncogenesis.ConclusionsTherefore, medulloblastoma could be a rare manifestation associated with germline biallelic pathogenic variants in MUTYH.
Soil properties constrain predicted poleward migration of plants under climate change
Authors: Ni Ming , Vellend Mark 
Published: August 2023

Summary
Many plant species are predicted to migrate poleward in response to climate change. Species distribution models (SDMs) have been widely used to quantify future suitable habitats, but they often neglect soil properties, despite the importance of soil for plant fitness. As soil properties often change along latitudinal gradients, higher‐latitude soils might be more or less suitable than average conditions within the current ranges of species, thereby accelerating or slowing potential poleward migration.
In this study, we built three SDMs – one with only climate predictors, one with only soil predictors, and one with both – for each of 1870 plant species in Eastern North America, in order to investigate the relative importance of soil properties in determining plant distributions and poleward shifts under climate change.
While climate variables were the most important predictors, soil properties also had a substantial influence on continental‐scale plant distributions. Under future climate scenarios, models including soil predicted much smaller northward shifts in distributions than climate‐only models (c. 40% reduction).
Our findings strongly suggest that high‐latitude soils are likely to impede ongoing plant migration, and they highlight the necessity of incorporating soil properties into models and predictions for plant distributions and migration under environmental change.
The melanocortin receptor signaling system and its role in neuroprotection against neurodegeneration: Therapeutic insights
Authors: Gebrie Alemu 
Published: August 2023

AbstractThe melanocortin signaling system consists of the melanocortin peptides, their distinctive receptors, accessory proteins, and endogenous antagonists. Melanocortin peptides are small peptide hormones that have been studied in a variety of physiological and pathological conditions. There are five types of melanocortin receptors, and they are distributed within the central nervous system and in several tissues of the periphery. The G protein–coupled melanocortin receptors typically signal through adenylyl cyclase and other downstream signaling pathways. Depending on the ligand, surface expression of melanocortin receptor, receptor occupancy period, related proteins, the type of cell, and other parameters, the signaling pathways are complicated and pleiotropic. While it is known that all five melanocortin receptors are coupled to Gs, they can also occasionally couple to Gq or Gi. Both direct and indirect neuroprotection are induced by the melanocortin signaling system. Targeting several of the components of the melanocortin signaling system (ligands, receptors, accessory proteins, signaling effectors, and regulators) may provide therapeutic opportunities. Activation of the melanocortin system improves different functional traits in neurodegenerative diseases. There is a potential for additional melanocortin system interventions by interfering with dimerization or dissociation. This review aims to discuss the melanocortin receptor signaling system and its role in neuroprotection, as well as its therapeutic potential.
Antipodean more‐than‐human geographies: From the edges
Authors: Siimes Nikolai , Yee Kenzi , McSherry Alice , Sharp Emma L. 
Published: August 2023

AbstractTo be more‐than‐human is to be relational, to no longer see the human as a discrete individual and to recognise the multivalent agency and import of the non‐human in bio‐physical, socio‐economic and cultural worlds. This Special Issue galvanises an interest by Aotearoa New Zealand geographers in non‐human–human relations and delivers more‐than‐human research from the edges: of the discipline, from our geographic position antipodal to ‘the west’ and ‘the north’, from early career researchers and from cognate literatures at the periphery of geographic thought. The contributions here question understandings of ethics, politics, conservation and economy through papers that explore affect, care, agency, discourses and practices with a range of more‐than‐human subject‐objects: blackberries, wine yeasts, insects, PFAS and urban streams.
COVID‐19 associated severe mucocutaneous blistering eruptions: A case series
Authors: Miller Allison E. , Zhang Donglin , Shields Bridget E. , Borghesi Alessandro , Benincaso Anna R. , Bernardo Luca , Ramien Michele , Lara‐Corrales Irene , Kirkorian A. Yasmine , Maguiness Sheilagh , Drolet Beth 
Published: August 2023

AbstractMucocutaneous eruptions are associated with numerous infectious processes and can present as erythema multiforme (EM), reactive infectious mucocutaneous eruption (RIME), Stevens Johnson syndrome (SJS), or toxic epidermal necrolysis (TEN). Limited reports have detailed the association of these eruptions with SARS‐CoV‐2 infection. We present a series of eight cases of severe mucocutaneous blistering eruptions associated with SARS‐CoV‐2 infection. A retrospective case series was performed at six tertiary medical centers from March 1, 2020 to August 1, 2022. Inclusion criteria were met with a clinical diagnosis of EM, RIME, SJS, or TEN and a positive SARS‐CoV‐2 test (rapid antigen or polymerase chain reaction) less than 4 weeks prior to onset of dermatologic manifestation. Data was collected at time of each patient encounter. Eight patients met criteria with six pediatric patients (<18 years of age) having a median age of 15 years and two adult patients (>18 years of age) having a median age of 36 years. Patients were found to have a clinical diagnosis of RIME in 85.7% of cases. Oral mucosal involvement was the most common clinical finding (100%), followed by ocular (50.0%), urogenital (50.0%), and skin (37.5%) involvement. Evaluation did not reveal any additional infectious triggers in four patients. Evidence of possible concurrent or previous infectious triggers were identified in four patients. This case series highlights the development of severe mucocutaneous eruptions in association with COVID‐19 infection, as well as the potential contributing role of concurrent or prior infections.
Informal Modes of Social Support among Residents of the Rural American West during the COVID‐19 Pandemic☆
Authors: McConnell Kathryn , Mueller J. Tom , Merdjanoff Alexis A. , Burow Paul Berne , Farrell Justin 
Published: August 2023

AbstractDuring the first year of the COVID‐19 pandemic, federal spending on government safety net programs in the United States increased dramatically. Despite this unparalleled spending, government safety nets were widely critiqued for failing to fully meet many households' needs. Disaster research suggests that informal modes of social support often emerge during times of disruption, such as the first year of the pandemic. However, use of formal government programs and informal support are rarely examined relative to each other, resulting in an incomplete picture of how households navigate disaster impacts and financial shocks. This study compares estimates of informal social support to formal government program use in the rural U.S. West, drawing on data from a rapid response survey fielded during the summer of 2020 and the 2021 Annual Social and Economic Supplement of the Current Population Survey (CPS‐ASEC). We find that informal social support systems were, on aggregate, used almost as extensively as long‐standing government programs. Our findings highlight the critical role of person‐to‐person assistance, such as sharing financial resources, among rural households during a disruptive disaster period. Routine and standardized data collection on these informal support behaviors could improve future disaster research and policy responses, especially among rural populations.
Statistical agreement of gonioscopy performed as a puppy and as an adult in the Samoyed dog
Authors: Turner Gemma , Groth Allyson , Hii Charis , O'Reilly Anu , Volk Hayley , Hardman Chloë 
Published: August 2023

AbstractObjectiveTo assess whether gonioscopy performed on Samoyed puppies (6–14 weeks of age) is a reliable predictor of their gonioscopy results as adults (>11 months of age).ProcedureA retrospective medical record search was performed to identify Samoyed dogs that had undergone gonioscopy as a puppy (6–14 weeks of age). A second prospective gonioscopy examination was performed as an adult (>11 months of age) and the results were compared. Gonioscopy was assessed on two characteristics: percent of iridocorneal angle (ICA) unaffected by pectinate ligament abnormalities (PLA) and ICA width, with PLA results categorized into unaffected (75% open), moderately affected (50%–74% open), and severely affected (<50% open) and the width categorized into wide, moderate, narrow, and closed groups. A multivariate model was created that considered factors such as PLA, angle width, sex, puppy age, neuter status, and time between examinations.ResultsThe eyes of 77 Samoyed dogs (154 eyes) met inclusion criteria. When assessing PLA, 90% of dogs had the same categorization as a puppy and as an adult. When assessing ICA width, 53.2% of dogs had the same width classification as a puppy and as an adult. There is strong evidence that variation between puppy and adult results increases with time between examination (p = .03).ConclusionPuppies unaffected by PLA and with a wide ICA angle, are likely to retain these features as adults. Selection of puppies with desirable gonioscopic traits may help breeders to choose dogs likely to retain these traits as adults for breeding. This may reduce the incidence of glaucoma in the breed. Puppy examinations should be performed in both eyes. Examination of adults prior to breeding remains prudent.
Comparative efficacy of mind‐body exercise for depression in breast cancer survivors: A systematic review and network meta‐analysis
Authors: Geng Liangrong , Duan Yi , Li Xiaoyu , Yue Shujin , Li Ruxue , Liu Hongxia , Su Chunxiang 
Published: August 2023

AbstractBackgroundAs pharmacotherapy often leads to adverse reactions, mind–body exercise (MBE) treatments have become a more popular option for treating depression in people living with breast cancer (BC). However, the most effective type of MBE treatment for this population remains unclear.AimsThe aim of this systematic review and network meta‐analysis (NMA) was to compare the efficacy of the different MBE modes for depression in people with BC.MethodsA systematic search for randomized controlled trials (RCTs) from inception to March 25, 2023, was conducted in the following database: EMBASE, PubMed, Web of Science, Cochrane Library, China National Knowledge Infrastructure, Wanfang Data, China Biology Medicine, OpenGrey, and ClinicalTrials.gov. A traditional meta‐analysis was conducted using the random‐effects model to directly assess the effectiveness of various MBE interventions. Stata 16.0 software was used for performing the NMA.ResultsThe NMA was performed in 32 eligible RCTs including 2361 participants. The efficacy of MBE treatments on depression was ranked as the following: Liuzijue (surface under the cumulative ranking curve [SUCRA] = 95.4%) > Tai chi (SUCRA = 76.9%) > yoga (SUCRA = 55.0%) > Baduanjin (SUCRA = 53.9%) > Pilates (SUCRA = 38.6%) > dance (SUCRA = 30.2%) > Qigong (SUCRA = 28.1%) > control (SUCRA = 21.9%).Linking Evidence to ActionOur research showed that Liuzijue and Tai chi might be the most significantly effective MBE intervention for mitigating depression among BC survivors. Healthcare professionals could consider recommending Liuzijue and Tai Chi as a complementary therapy for BC survivors who experience depression.
Probabilistic Validation: Computational Platform and Application to Fire Probabilistic Risk Assessment of Nuclear Power Plants
Authors: Bui Ha , Sakurahara Tatsuya , Reihani Seyed , Kee Ernie , Mohaghegh Zahra 
Published: August 2023

Abstract
Recently, there has been an increasing use of advanced modeling and simulation in the nuclear domain across academia, industry, and regulatory agencies to improve the realism in capturing complex and highly spatiotemporal phenomena within the probabilistic risk assessment (PRA) of existing nuclear power plants (NPPs). Advanced modeling and simulation have also been used to accelerate the risk-informed design, licensing, and operationalization of advanced nuclear reactors. Validation of simulation models traditionally relies on empirical validation approaches which require enough validation data. Such validation data are, however, usually costly to obtain in the contexts of the nuclear industry. To overcome this challenge and to effectively support the use of simulation models in PRA and risk-informed decision-making applications, a systematic and scientifically justifiable validation methodology, namely, the probabilistic validation (PV) methodology, has been developed. This methodology leverages uncertainty analysis to support the validity assessment of the simulation prediction. The theoretical foundation and methodological platform of the PV methodology have been reported in the first paper of this two-part series. The purpose of this second paper is to computationalize the PV methodology, embedded in an integrated PRA framework, and apply it for a hierarchical fire simulation model used in NPP Fire PRA.
Shaping the Dynamics of a Low-Stiffness Positioning System by Mechatronic Design for Enabling Stable Unity Gain Feedback
Authors: Csencsics Ernst , Friedl Benjamin , Schitter Georg 
Published: August 2023

Abstract
The paper presents a method for enabling feedback control of a mechatronic system without a dedicated controller by tailoring structural modes of the mechanical structure for loop shaping by design. Structural modes are in general unwanted effects in positioning systems and are by design typically well separated from the frequency range over which control is effective. They can, however, also be deliberately integrated to shape the resulting loop gain of the control loop, to overcome the need for a dedicated position controller and enable unity gain feedback. The method employs a structural mode with antiresonance-resonance-pattern together with a damping mechanism to obtain the required phase lead for feedback control of a low-stiffness positioning system. It is validated by an experimental setup with one degree-of-freedom (DoF), designed for a crossover frequency of 130 Hz and a phase margin of 50 deg. An adjustable electromagnetic damper is integrated to study the effects of parameter variations. The designed closed-loop controlled system achieves a bandwidth of 240 Hz, and is capable of tracking step inputs and rejecting external impacts with settling times a factor of 2–5 smaller than in the detuned case.