bluuebunny/crossref_metadata_2025_split huggingface dataset:
Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets
Authors: Tavana Nahid , Ting Tzer Hwu , Lai Kaitao , Kennerson Marina L. , Thilakavathy Karuppiah 
Published: December 2022

AbstractBackgroundHypophosphatemic rickets (HR) is a genetic disease of phosphate wasting that is characterized by defective bone mineralization. The most common cause of the disease is mutations in the phosphate regulating gene with homologies to endopeptidases on the X chromosome (PHEX) gene. The aims of this study were to identify the gene variants responsible for HR in three cases of Malaysian origin from three independent families and to describe their clinical, biochemical, and radiological features.MethodsWhole exome sequencing (WES) was performed on all patients and their parents, followed by Sanger sequencing validation. Bioinformatics tools were used to provide supporting evidence for pathogenicity of variants. To confirm that a mutation is de novo, paternity test was carried out. High resolution melting curve analysis was performed to assess the allele frequency in normal controls for mutations that were found in the patients.ResultsThe patients showed typical characteristics of HR including lower limb deformity, hypophosphatemia, and elevated alkaline phosphatase. WES revealed two variants in thePHEXgene and one variant in the dentin matrix protein 1 (DMP1) gene. Two of the three variants were novel, including c.1946_1954del (p.Gly649_Arg651del) inPHEXand c.54 + 1G > A inDMP1. Our data suggests that the novel p.Gly649_Arg651del variant is likely pathogenic for HR disease.ConclusionsThis study extends the variant spectrum of thePHEXandDMP1genes. Our findings indicate that WES is an advantageous approach for diagnosis of genetic diseases which are heterogeneous.
Prognostication after cardiac arrest: how EEG and evoked potentials may improve the challenge
Authors: Benghanem Sarah , Pruvost-Robieux Estelle , Bouchereau Eléonore , Gavaret Martine , Cariou Alain 
Published: December 2022

AbstractAbout 80% of patients resuscitated from CA are comatose at ICU admission and nearly 50% of survivors are still unawake at 72 h. Predicting neurological outcome of these patients is important to provide correct information to patient’s relatives, avoid disproportionate care in patients with irreversible hypoxic–ischemic brain injury (HIBI) and inappropriate withdrawal of care in patients with a possible favorable neurological recovery. ERC/ESICM 2021 algorithm allows a classification as “poor outcome likely” in 32%, the outcome remaining “indeterminate” in 68%. The crucial question is to know how we could improve the assessment of both unfavorable but also favorable outcome prediction. Neurophysiological tests, i.e., electroencephalography (EEG) and evoked-potentials (EPs) are a non-invasive bedside investigations. The EEG is the record of brain electrical fields, characterized by a high temporal resolution but a low spatial resolution. EEG is largely available, and represented the most widely tool use in recent survey examining current neuro-prognostication practices. The severity of HIBI is correlated with the predominant frequency and background continuity of EEG leading to “highly malignant” patterns as suppression or burst suppression in the most severe HIBI. EPs differ from EEG signals as they are stimulus induced and represent the summated activities of large populations of neurons firing in synchrony, requiring the average of numerous stimulations. Different EPs (i.e., somato sensory EPs (SSEPs), brainstem auditory EPs (BAEPs), middle latency auditory EPs (MLAEPs) and long latency event-related potentials (ERPs) with mismatch negativity (MMN) and P300 responses) can be assessed in ICU, with different brain generators and prognostic values. In the present review, we summarize EEG and EPs signal generators, recording modalities, interpretation and prognostic values of these different neurophysiological tools. Finally, we assess the perspective for futures neurophysiological investigations, aiming to reduce prognostic uncertainty in comatose and disorders of consciousness (DoC) patients after CA.
Backward reachability approach to state-constrained stochastic optimal control problem for jump-diffusion models
Authors: Moon Jun 
Published: December 2022

AbstractIn this paper, we consider the stochastic optimal control problem for jump-diffusion models with state constraints. In general, the value function of such problems is the discontinuous viscosity solution of the associated Hamilton-Jacobi-Bellman (HJB) equation since the regularity cannot be guaranteed at the boundary of the state constraint. By adapting the stochastic target theory, we obtain an equivalent representation of the original value function by means of the backward reachable set. We then show that this backward reachable can be characterized by the zero-level set of the auxiliary value function for the unconstrained stochastic control problem, which includes two additional unbounded controls as a consequence of the martingale representation theorem. We prove that the auxiliary value function is the unique continuous viscosity solution of the associated HJB equation, which is the second-order nonlinear partial integro-differential equation (PIDE). Our paper provides an explicit way to characterize the original (possibly discontinuous) value function as a zero-level set of the continuous solution of the auxiliary HJB equation. The proof of the existence and uniqueness requires a new technique due to the unbounded control sets and the presence of the singularity of the corresponding Lévy measure in the nonlocal operator of the HJB equation.
A novel vehicular task deployment method in hybrid MEC
Authors: Xu Xifeng , Xia Yunni , Zeng Feng , Li Fan , Xie Hong , Fu Xiaodong , Wang Mengdi 
Published: December 2022

AbstractWith the skyrocketing need for low-latency services on the Internet of Vehicles (IoV) and elastic cross-layer resource provisioning, multi-access edge computing (MEC) is considered a high-potent solution, which evolves from cloud and grid computing to meet the above needs in IoV scenarios. Instead of considering single-point and monolithic IoV tasks, in this paper, we consider the IoV applications to be with structural properties and the supporting environment to be with a hybrid cloud-edge architecture. We develop a scheduling method that offloads tasks to the eNode or cloud according to their estimations of latest starting time. Simulative results clearly demonstrate that our method beat existing solutions in terms of average completion time, average waiting time, and in-time completion rate.
Burden of COVID-19 on primary care in Belgium: a prospective nationwide observational study from March to August 2020
Authors: Vaes Bert , Vos Bénédicte , Foidart Maxime , De Schreye Robrecht , Schrans Diego , Philips Hilde , Aertgeerts Bert , Doggen Kris 
Published: December 2022

Abstract
Background
The COVID-19 outbreak had an important impact on general practice, for example the lack of personal protective equipment (PPE) and the switch to telephone consultations. We installed a monitoring instrument and reported the burden the COVID-19 pandemic placed on Belgian general practitioners (GPs) during the first wave of the pandemic.

Methods
We conducted an observational longitudinal prospective study from the 19th of March until the 17th of August 2020. Daily data were collected by using a structured electronic form integrated into the GPs’ electronic medical records (EMRs). Data were collected on the GPs’ need for support and workload, epidemiological indicators and the availability of PPE. Reports with graphical presentations were made for GP circles and primary care zones, and governments of different administrative levels had access to all data to guide their policy.

Results
A total of 3.769 different GP centres participated, which included more than 10.000 GPs. Throughout the first three weeks, 20% declared they had insufficient resources (personnel and material) for the following week. Approximately 10% continued to report this during the entire study. The majority reported being able to complete their daily tasks without loss of quality. During the first week, 30% indicated an increased workload. Afterwards, this number decreased and stabilized to an average of 10–20%. More than 70% of the consultations in March 2020 were conducted by telephone. This percentage declined in April and stabilized at approximately 30% in June 2020. Consultations due to respiratory symptoms peaked at 4000/100,000 inhabitants at the beginning of the outbreak, then decreased over time along with the COVID-19 incidence. We noticed a lack of disinfectant hand gel, surgical masks and FFP2 masks, the latter remaining problematic in the long term.

Conclusion
We introduced an instrument in Belgian EMR systems to monitor the burden on GPs during the first wave of the COVID-19 pandemic. The lack of PPE and increased workload were considered to be the main obstacles. A large number of the GP offices switched to teleconsultations to provide healthcare. Our monitoring instrument provided information for policy makers to intervene on a local level.
Providing substance use disorder treatment in correctional settings: knowledge gaps and proposed research priorities—overview and commentary
Authors: Zaller Nickolas D. , Gorvine Margaret M. , Ross Jon , Mitchell Shannon Gwin , Taxman Faye S. , Farabee David 
Published: December 2022

AbstractThis manuscript is the product of the authors’ discussions, literature overview, and consultation with experts in the field, and identifies important gaps in the evidence base for substance use disorder (SUD) treatment effectiveness within criminal justice (CJ) settings. Lacking from the extant literature are longitudinal investigations of treatment related outcomes during and after incarceration. Such studies could provide rich contextual data about treatment delivery and effectiveness across the CJ continuum, and would provide important insight into individual characteristics (e.g., motivation, treatment modality preferences, treatment completion rates, etc.) as well as institutional and environmental factors (e.g., appropriate staffing, space limitations for individual treatment sessions, distribution of medications, etc.). We also identified the importance of reproducibility within CJ research, and the unfortunate reality of too many single studies conducted in single (or relatively few) correctional facilities. Some of this has been because the studies designed to produce that evidence are not prioritized for funding, which has continually placed researchers in a position where we cannot make firm conclusions or recommendations based on available evidence. The importance of replicating the foundational studies in this field cannot be overstated. We hope this article spurs other researchers to join in the healthy process of questioning the existing state of the CJ-based SUD treatment research, what should be re-examined, and how we can lay a stronger foundation for the future.
Ammonia emission from sandy loam soil amended with manure compost and urea
Authors: Adegoke Toluwase Oreoluwa , Moon Tae-il , Ku Hyun-Hwoi 
Published: December 2022

AbstractUrea is a renowned nitrogen (N) fertilizer widely used in plant N nutrition owing to its high N concentration (46%). The effect of the N application rate on ammonia (NH3) emission into the environment and soil properties is yet to be unraveled. The rate of NH3 emission from sandy loam soil amended with manure compost (T1: 5000 kg ha−1) and urea at different application rates (100, 200, and 400 kg N ha−1 designated as T2, T3, and T4, respectively) with 3 replications was evaluated in an incubation experiment. Ammonia emission was rapid at the early stage of the experiment followed by an equilibrium decrease that tends toward zero at the end of the incubation. Ammonia emissions of 16.50, 52.15, and 75% of applied N in T2, T3, and T4 were observed on day 49. Ammonia emission increased linearly (y = 0.7823x−32.169, R2 = 0.95**) in response to N application rates. T1 conserves more NH4+ (20.79 mg kg−1) in the soil, followed by T2 (11.8 mg kg−1) and T3 (11.7 mg kg−1). T2 and T3 reduced the soil pH to optimal for microbial activities and nutrient availability, while T4 promoted soil acidity. A balanced combination of compost and urea mitigates NH3 volatilization and improves soil fertility. In conclusion, applying compost (5000 kg ha−1) with urea at 100 kg N ha−1 or 200 kg N ha−1 is recommended for NH3 volatilization mitigation, nitrification inhibition, and efficient NH4+ retention in the soil.
Oil prices, labour market adjustment and dynamic quantile connectedness analysis: evidence from Greece during the crisis
Authors: Palaios Panagiotis , Papapetrou Evangelia 
Published: December 2022

AbstractThis paper examines the spillover effects transmission mechanism between oil prices, oil price uncertainty and oil price volatility on labour market in Greece, using static and dynamic quantile connectedness methodology (Diebold and Yilmaz Diebold and Yilmaz, Int J Forecast 28:57–66, 2012; Ando et al. Ando T, Greenwood-Nimmo N, Shin Y (2018) ‘Quantile connectedness: Modelling tail behavior in the topology of financial networks’, Working Paper. https://ssrn.com/abstract=3164772.). There is empirical evidence that the oil price variable is the most influential node of the energy variables on hirings and firings, suggesting the endogeneity of the labour market variables. Rolling estimation analysis based on the quantile VAR to capture the volatility spillovers across the whole conditional distribution shows a large variation of the total connectedness index, which is responsive to exogenous adverse and beneficial shocks. Further, our results point to a strong effect due to the COVID-19 pandemic and the state intervention to sustain the pandemic on the labour market. Overall, the analysis reveals a substantial higher time-varying connectedness of the system at the tails of the distribution, indicating that changes in energy markets asymmetrically affect the Greek labour market in recessionary and flourishing states of the economy, rather than normal times.
Dietary supplementation with 0.4% L-arginine between days 14 and 30 of gestation enhances NO and polyamine syntheses and water transport in porcine placentae
Authors: Herring Cassandra M. , Bazer Fuller W. , Johnson Gregory A. , Seo Heewon , Hu Shengdi , Elmetwally Mohammed , He Wenliang , Long Daniel B. , Wu Guoyao 
Published: December 2022

Abstract
Background
Most embryonic loss in pigs occurs before d 30 of gestation. Dietary supplementation with L-arginine (Arg) during early gestation can enhance the survival and development of conceptuses (embryo/fetus and its extra-embryonic membranes) in gilts. However, the underlying mechanisms remain largely unknown.

Methods
Between d 14 and 30 of gestation, each gilt was fed daily 2 kg of a corn- and soybean-meal based diet (12% crude protein) supplemented with either 0.4% Arg (as Arg-HCl) or an isonitrogenous amount of L-alanine (Control). There were 10 gilts per treatment group. On d 30 of gestation, gilts were fed either Arg-HCl or L-alanine 30 min before they were hysterectomized, followed by the collection of placentae, embryos, fetal membranes, and fetal fluids. Amniotic and allantoic fluids were analyzed for nitrite and nitrate [NOx; stable oxidation products of nitric oxide (NO)], polyamines, and amino acids. Placentae were analyzed for syntheses of NO and polyamines, water and amino acid transport, concentrations of amino acid-related metabolites, and the expression of angiogenic factors and aquaporins (AQPs).

Results
Compared to the control group, Arg supplementation increased (P < 0.05) the number of viable fetuses by 1.9 per litter, the number and diameter of placental blood vessels (+ 25.9% and + 17.0% respectively), embryonic survival (+ 18.5%), total placental weight (+ 36.5%), the total weight of viable fetuses (+ 33.5%), fetal crown-to-rump length (+ 4.7%), and total allantoic and amniotic fluid volumes (+ 44.6% and + 75.5% respectively). Compared to control gilts, Arg supplementation increased (P < 0.05) placental activities of GTP cyclohydrolase-1 (+ 33.1%) and ornithine decarboxylase (+ 29.3%); placental syntheses of NO (+ 26.2%) and polyamines (+ 28.9%); placental concentrations of NOx (+ 22.5%), tetrahydrobiopterin (+ 21.1%), polyamines (+ 20.4%), cAMP (+ 27.7%), and cGMP (+ 24.7%); total amounts of NOx (+ 61.7% to + 96.8%), polyamines (+ 60.7% to + 88.7%), amino acids (+ 39% to + 118%), glucose (+ 60.5% to + 62.6%), and fructose (+ 41.4% to + 57.0%) in fetal fluids; and the placental transport of water (+ 33.9%), Arg (+ 78.4%), glutamine (+ 89.9%), and glycine (+ 89.6%). Furthermore, Arg supplementation increased (P < 0.05) placental mRNA levels for angiogenic factors [VEGFA120 (+ 117%), VEGFR1 (+ 445%), VEGFR2 (+ 373%), PGF (+ 197%), and GCH1 (+ 126%)] and AQPs [AQP1 (+ 280%), AQP3 (+ 137%), AQP5 (+ 172%), AQP8 (+ 165%), and AQP9 (+ 127%)].

Conclusion
Supplementing 0.4% Arg to a conventional diet for gilts between d 14 and d 30 of gestation enhanced placental NO and polyamine syntheses, angiogenesis, and water and amino acid transport to improve conceptus development and survival.
Xanthine oxidase and aldehyde oxidase contribute to allopurinol metabolism in rats
Authors: Tayama Yoshitaka , Sugihara Kazumi , Sanoh Seigo , Miyake Katsushi , Kitamura Shigeyuki , Ohta Shigeru 
Published: December 2022

Abstract
Background
Allopurinol is used to treat hyperuricemia and gout. It is metabolized to oxypurinol by xanthine oxidase (XO), and aldehyde oxidase (AO). Allopurinol and oxypurinol are potent XO inhibitors that reduce the plasma uric acid levels. Although oxypurinol levels show large inter-individual variations, high concentrations of oxypurinol can cause various adverse effects. Therefore, it is important to understand allopurinol metabolism by XO and AO. In this study we aimed to estimate the role of AO and XO in allopurinol metabolism by pre-administering Crl:CD and Jcl:SD rats, which have known strain differences in AO activity, with XO inhibitor febuxostat.

Methods
Allopurinol (30 or 100 mg/kg) was administered to Crl:CD and Jcl:SD rats with low and high AO activity, respectively, after pretreatment with or without febuxostat. The serum concentrations of allopurinol and oxypurinol were measured, and the area under the concentration-time curve (AUC) was calculated from the 48 h serum concentration-time profile. In vivo metabolic activity was measured as the ratio AUCoxypurinol /AUCallopurinol.

Results
Although no strain-specific differences were observed in the AUCoxypurinol/AUCallopurinol ratio in the allopurinol (30 mg/kg)-treated group, the ratio in Jcl:SD rats was higher than that in Crl:CD rats after febuxostat pretreatment. Contrastingly, the AUC ratio of allopurinol (100 mg/kg) was approximately 2-fold higher in Jcl:SD rats than that in Crl:CD rats. These findings showed that Jcl:SD rats had higher intrinsic AO activity than Crl:CD rats did.
However, febuxostat pretreatment substantially decreased the activity, as measured by the AUC ratio using allopurinol (100 mg/kg), to 46 and 63% in Crl:CD rats and Jcl:SD rats, respectively, compared to the control group without febuxostat pretreatment.

Conclusions
We elucidated the role of XO and AO in allopurinol metabolism in Crl:CD and Jcl:SD rats. Notably, AO can exert a proportionately greater impact on allopurinol metabolism at high allopurinol concentrations. AO’s impact on allopurinol metabolism is meaningful enough that individual differences in AO may explain allopurinol toxicity events. Considering the inter-individual differences in AO activity, these findings can aid to dose adjustment of allopurinol to avoid potential adverse effects.
Papillary thyroid microcarcinoma with multiple pulmonary metastases following lung cancer surgery: a case report
Authors: Kamio Hidenori , Onizuka Hiromi , Yoshida Yusaku , Omi Yoko , Isaka Tamami , Nagashima Yoji , Horiuchi Kiyomi , Okamoto Takahiro 
Published: December 2022

Abstract
Background
Distant metastasis is extremely rare for papillary thyroid microcarcinoma (PTMC) without lymph node metastasis or extrathyroidal extension, for which active surveillance (AS) is indicated. The evaluation of distant metastases in low-risk PTMC is controversial. A case of PTMC in which AS would have been performed if chest CT and lung surgery had not been performed is reported.

Case presentation
The patient was a 71-year-old woman undergoing follow-up in the Department of Thoracic Surgery at our hospital for multiple frosted glass shadows in both lung fields for one and a half years. To make a definitive diagnosis, thoracoscopic right middle lobectomy and left upper partial lobectomy were performed 4 and 6 months earlier, respectively. In both resected specimens, lung adenocarcinoma and small metastasis of papillary thyroid carcinoma (PTC) were found. The patient was transferred to our department for a thorough examination for PTC. Ultrasonography was performed to search for the primary lesion, and it showed an irregular hypoechoic mass of 4 mm and 6 mm in the middle of the right lobe of the thyroid gland. The patient was diagnosed with PTC. Its clinical stage was T1a (m) N0 M1 (stage IVC). Total thyroidectomy and prophylactic central node dissection were performed. The pathological diagnosis was PTC (typical type) pT1a (m) N0. Postoperatively, she received radioactive iodine therapy.

Conclusions
We experienced an extremely rare case and struggled to determine a treatment plan. We might be aware that lung metastases could develop in low-risk PTMC.
Gender-related differences in the association of serum levels of vitamin D with body mass index in northern Iranian population: the PERSIAN Guilan Cohort Study (PGCS)
Authors: Joukar Farahnaz , Asgharnezhad Mehrnaz , Naghipour Mohammadreza , Mojtahedi Kourosh , Salari Arsalan , Mansour-Ghanaei Alireza , Mansour-Ghanaei Fariborz 
Published: December 2022

Abstract
Background
Vitamin D (VD) insufficiency has now become a global problem throughout the world. The association between increasing body mass index (BMI) and VD insufficiency has attracted great attention in recent researches. The aim was to study if BMI was independently associated with serum 25-hydroxy VD in a large population-based study, specify by gender.

Methods
Data on 9520 adults 35 years and older participating in PERSIAN Guilan Cohort Study (PGCS) were used. Serum levels of 25-hydroxy VD less than 20 ng/mL (50 nmol/L) was used as a measure of VD inadequacy. Multiple logistic and linear regression analyses were used to estimate the strength of the association between VD and BMI before and after adjusting for demographic factors and lifestyle variables.

Results
After adjustment in male population, overweight (adjusted OR = 1.2, P < 0.05) and obese (adjusted OR = 1.4, P > 0.05) individuals were more likely to have VD inadequacy than normal weight counterparts. Moreover, there was a weak inverse linear association between BMI and serum 25 (OH) D levels in males (β = -0.14, P value > 0.05). In contrast, no significant associations between BMI and serum 25 (OH (D levels were observed in females. In male population, higher BMI were associated with lower serum vitamin 25 (OH) D levels.

Conclusions
However, association between BMI and VD level was not observed in female population. The suggestion of current study for public health was special consideration to serum VD levels in over weight and obese males.