bluuebunny/crossref_metadata_2025_split huggingface dataset:
Transcriptomic study in explanted liver from a patient with acute intermittent porphyria
Authors: To‐Figueras Jordi , Titos Esther , Aguilera Paula , Díaz Alba , Muñoz‐Luque Javier , Madrigal Irene , Badenas Celia , Torra Mercè , Fondevila Constantino , Colmenero Jordi 
Published: September 2022

AbstractAcute intermittent porphyria (AIP) is a rare disease caused by a deficiency of hydroxymethylbilane synthase (HMBS), the third enzyme of the heme‐synthesis pathway. Decreased enzymatic activity in the liver induces an overproduction of heme‐precursors and acute neurological attacks. We report a 36‐years‐old female with AIP with a long‐term history of severe, disabling, recurrent attacks, who underwent curative liver transplantation. Tissue samples from the explant were obtained for transcriptome analysis. Whole RNA was extracted and 16 gene‐transcripts were selected and investigated by quantitative polymerase chain reaction. These included nine genes encoding enzymes that consecutively catalyze heme‐synthesis and catabolism in the liver (ALAS1; ALAD; HMBS; UROS; UROD; CPOX; PPOX; FECH; HMOX1). Additionally, we studied genes related to inflammation (IL6; TNF) insulin signaling (PGC‐1α; IGF‐1; FOXO‐1) and tryptophan metabolism (TDO2; IDO). Transcripts of eight house‐keeping genes were co‐measured for normalization. All transcripts were also measured in five control samples from healthy living liver donors. The transcriptome of the controls showed important differences between the various genes, with the first two genes of the heme‐synthesis pathway, ALAS1 and ALAD showing strikingly high mRNA levels compared to the consecutive HMBS gene. Transcripts of several genes significantly differed in the AIP liver compared to controls. Transcripts of HMOX1 and UROS were increased in the AIP liver whereas transcripts of UROD; CPOX, PPOX, and TDO2 were decreased. ALAS1 expression was not increased, possibly due to hemin administered to the patient before transplantation. These results highlight several transcriptomic changes related to heme homeostasis in AIP.
Differential Adaptation of Biventricular Myocardial Kinetic Energy in Patients With Repaired Tetralogy of Fallot Assessed by MR Tissue Phase Mapping
Authors: Ke Shi‐Ying , Weng Ken‐Pen , Chang Meng‐Chu , Wu Ming‐Ting , Li Yi‐He , Chien Kuang‐Jen , Lin Chu‐Chuan , Hsieh Kai‐Sheng , Chang Ming‐Hua , Pan Jun‐Yen , Peng Hsu‐Hsia 
Published: September 2022

BackgroundThe myocardial kinetic energy (KE) and its association with pulmonary regurgitation (PR) have yet to be investigated in repaired tetralogy of Fallot (rTOF) patients.PurposeTo evaluate the adaptation of myocardial KE in rTOF patients by tissue phase mapping (TPM).Study TypeProspective.PopulationA total of 49 rTOF patients (23 ± 5 years old; male = 32), 47 normal controls (22 ± 1 year old; male = 29).Field Strength/Sequence3‐T/2D dark‐blood three‐directional velocity‐encoded gradient‐echo sequence.AssessmentLeft and right ventricle (LV, RV) myocardial KE in radial (KEr), circumferential (KEø), longitudinal (KEz) directions. The proportions of KE in each direction to the sum of all KE (KErøz): %KEr, %KEø, %KEz. PR fraction.Statistical TestStudent's t test, multivariable regression. Statistical significance: P < 0.05.ResultsIn rTOF group, LV KEz remained normal in systole (P = 0.565) and diastole (P = 0.210), whereas diastolic LV %KEz (62% ± 14% vs. 72% ± 7%) and systolic LV %KEø (9% ± 6% vs. 20% ± 7%) were significantly decreased. The KEr and %KEr of both ventricles significantly increased in the rTOF group (RV in diastole: 6 ± 3 vs. 3 ± 1 μJ and 54% ± 13% vs. 27% ± 7%). The rTOF group exhibited significantly higher RV/LV ratios of %KEr (systole: 1.3 ± 0.3 vs. 1.0 ± 0.3) and %KEø (systole: 1.6 ± 0.8 vs. 1.0 ± 0.3) and significantly lower ratios of %KEz in systole (0.7 ± 0.2 vs. 1.0 ± 0.1) and diastole (0.5 ± 0.2 vs. 0.9 ± 0.1). In multivariable regression analysis, the RV peak systolic KErøz, RV systolic KEz, and LV diastolic %KEø were independently associated with PR fraction in the rTOF group (adjusted R2 = 0.479).Data ConclusionIn rTOF patients, the adaptation of the KE proportion occurred earlier than that of the KE amplitude, and the biventricular balance of %KE was disrupted. PR may cause differential KE adaptation in RV and LV. TPM‐derived KE may be useful in investigation of myocardial adaptation in rTOF patients.Evidence Level2Technical EfficacyStage 3
Convergence of Vilenkin–Fourier series in variable Hardy spaces
Authors: Weisz Ferenc 
Published: September 2022

AbstractLet be a variable exponent function satisfying the log‐Hölder condition and . We introduce the variable Hardy and Hardy–Lorentz spaces and containing Vilenkin martingales. We prove that the partial sums of the Vilenkin–Fourier series converge to the original function in the ‐ and ‐norm if . We generalize this result for smaller as well. We show that the maximal operator of the Fejér means of the Vilenkin–Fourier series is bounded from to and from to if , and . This last condition is surprising because the corresponding results for Fourier series or Fourier transforms hold without this condition. This implies some norm and almost everywhere convergence results for the Fejér means of the Vilenkin–Fourier series.
Nanoparticle‐mediated transgene expression of insulin‐like growth factor 1 in the growth restricted guinea pig placenta increases placenta nutrient transporter expression and fetal glucose concentrations
Authors: Wilson Rebecca L. , Lampe Kristin , Gupta Mukesh K. , Duvall Craig L. , Jones Helen N. 
Published: September 2022

AbstractFetal growth restriction (FGR) significantly contributes to neonatal and perinatal morbidity and mortality. Currently, there are no effective treatment options for FGR during pregnancy. We have developed a nanoparticle gene therapy targeting the placenta to increase expression of human insulin‐like growth factor 1 (hIGF1) to correct fetal growth trajectories. Using the maternal nutrient restriction guinea pig model of FGR, an ultrasound‐guided, intraplacental injection of nonviral, polymer‐based hIGF1 nanoparticle containing plasmid with the hIGF1 gene and placenta‐specific Cyp19a1 promotor was administered at mid‐pregnancy. Sustained hIGF1 expression was confirmed in the placenta 5 days after treatment. Whilst increased hIGF1 did not change fetal weight, circulating fetal glucose concentration were 33%–67% higher. This was associated with increased expression of glucose and amino acid transporters in the placenta. Additionally, hIGF1 nanoparticle treatment increased the fetal capillary volume density in the placenta, and reduced interhaemal distance between maternal and fetal circulation. Overall, our findings, that trophoblast‐specific increased expression of hIGF1 results in changes to glucose transporter expression and increases fetal glucose concentrations within a short time period, highlights the translational potential this treatment could have in correcting impaired placental nutrient transport in human pregnancies complicated by FGR.
An investigation into the dependence of virtual observation point‐based specific absorption rate calculation complexity on number of channels
Authors: Orzada Stephan , Akash Safi , Fiedler Thomas M. , Kratzer Fabian J. , Ladd Mark E. 
Published: September 2022

PurposeThis study aims to find a relation between the number of channels and the computational burden for specific absorption rate (SAR) calculation using virtual observation point‐based SAR compression.MethodsEleven different arrays of rectangular loops covering a cylinder of fixed size around the head of an anatomically correct voxel model were simulated. The resulting Q‐matrices were compressed with 2 different compression algorithms, with the overestimation fixed to a certain fraction of worst‐case SAR, median SAR, or minimum SAR. The latter 2 were calculated from 1e6 normalized random excitation vectors.ResultsThe number of virtual observation points increased with the number of channels to the power of 2.3–3.7, depending on the compression algorithm when holding the relative error fixed. Together with the increase in the size of the Q‐matrices (and therefore the size of the virtual observation points), the total increase in computational burden with the number of channels was to the power of 4.3–5.7.ConclusionThe computational cost emphasizes the need to use the best possible compression algorithms when moving to high channel counts.
Noninvasive assessment of renal dynamics and pH in a unilateral ureter obstruction model using DCE MR‐CEST urography
Authors: Stabinska Julia , Singh Aruna , Haney Nora M. , Li Yuguo , Sedaghat Farzad , Kates Max , McMahon Michael T. 
Published: September 2022

PurposeTo assess the potential of DCE MR CEST urography for assessing renal function in mice with unilateral ureter obstruction (UUO) by simultaneous pH and renal uptake/clearance measurements following injection of iopamidol.MethodsThe right ureter of nine mice was obstructed via suture ligation. The animals were imaged at day 1, 2, and 3 post‐obstruction on an 11.7T MRI scanner. Ninety‐six sets of saturated CEST images at 4.3 and 5.5 ppm were collected. Renal pH values were obtained by calculating the signal ratio for these two frequencies and using a pH calibration curve. Renal time activity curves were measured as a percentage change in the post‐injection CEST signal at 4.3 ppm relative to the average pre‐injection signal.ResultsFor the healthy mice, the time activity curves of both kidneys were nearly identical and displayed rapid excretion of contrast. For the UUO mice, the dynamic CEST curves for the obstructed kidneys displayed prolonged time to peak (TTP) values and delayed contrast excretion compared with the contralateral (CL) kidneys. Renal pH maps of the healthy animals showed similar acidic values for both kidneys (pH 6.65 ± 0.04 vs 6.67 ± 0.02), whereas in the obstructed kidneys there was a significant increase in pH values compared with the CL kidneys (pH 6.67 ± 0.08 vs 6.79 ± 0.11 in CL and UUO kidneys, respectively).ConclusionOur findings indicate that DCE‐MR‐CEST urography can detect changes in renal uptake/excretion and pH homeostasis and distinguish between obstructed and unobstructed kidney as early as 1 day after UUO.
Physiotherapists nearly always prescribe exercise for rotator cuff‐related shoulder pain; but why? A cross‐sectional international survey of physiotherapists
Authors: Powell Jared K. , Schram Ben , Lewis Jeremy , Hing Wayne 
Published: September 2022

AbstractBackground and AimsThis cross‐sectional international survey explored the beliefs of physiotherapists regarding the possible mechanisms of benefit of exercise for rotator cuff‐related shoulder pain (RCRSP). Clinical practice guidelines recommend physiotherapists use exercise as a primary treatment to help people with RCRSP, but the explanations provided to patients by physiotherapists regarding its mechanism of effect is unknown.Materials and MethodsRegistered physiotherapists were surveyed about ‘how and why’ they believe exercise provides a clinical benefit for people with RCRSP. Information was also gathered about commonly used exercise types and preferred diagnostic labels. The survey was designed and reported in concordance with Consensus‐Based Checklist for Reporting of Survey Studies guidelines.ResultsFour hundred and eighty physiotherapists from forty‐nine countries completed the survey. Psychosocial and biomedical mechanisms of exercise were evenly selected by participants. Improving muscle strength, muscle endurance, pain self‐efficacy and reducing kinesiophobia, and fear avoidance beliefs were the most common individual mechanisms thought to underpin exercise therapy for RCRSP. Rotator cuff‐related shoulder pain was the most commonly used diagnostic label.Discussion and ConclusionPhysiotherapists hold beliefs regarding exercise mechanisms that is largely concordant with the current evidence base, which is commendable. Future research should consider the patients perspective and consider testing commonly selected mechanisms of exercise, such as shoulder muscle strength, pain self‐efficacy and kinesiophobia as possible mediators of recovery.
Low T3 syndrome is associated with peripheral neuropathy in patients with type 2 diabetes mellitus
Authors: He Weilei , Pang Chunyang , Chen Luowei , Zeng Yaying , Gao Lingfei , Huang Huanjie , Zhang Wanli , Wang Xun , Deng Binbin 
Published: September 2022

AbstractIntroduction/AimsDiabetic peripheral neuropathy (DPN) is one of the most common chronic complications of diabetes mellitus. Diabetic patients often have thyroid dysfunction. The aim of this study was to investigate the association between low triiodothyronine (T3) syndrome and DPN in patients with type 2 diabetes mellitus (T2DM).MethodsA retrospective review was performed of 928 patients with T2DM for whom data was available for clinical manifestations and nerve conduction studies (NCS), and of 134 non‐diabetic controls. The composite Z scores of conduction velocity and amplitude were calculated. Low T3 syndrome was defined as T3 levels below the lower limit of the reference interval.ResultsAmong the patients with T2DM, 632 (68.1%) had DPN, and a larger proportion of these patients presented with low T3 syndrome than patients without DPN. After adjusting for potential confounders, low T3 syndrome was independently associated with the occurrence of DPN (odds ratio [OR] = 2.049, 95% confidence interval [CI] 1.319–3.181, p = .001) and the severity of DPN (OR = 1.597, 95% CI 1.030–2.476, p = .036). Adding the criterion of low T3 syndrome improved the prognostic performance of the traditional model (age + gender + diabetic duration + glycated hemoglobin [HbA1c]) for predicting DPN.DiscussionLow T3 syndrome is associated with a higher risk and increased severity of DPN in patients with T2DM. These findings suggest that low T3 syndrome could be a predictor for risk stratification in patients with T2DM.
Convergence analysis of the fractional decomposition method with applications to time‐fractional biological population models
Authors: Obeidat Nazek A. , Bentil Daniel E. 
Published: September 2022

AbstractIn this study, we present convergence analysis along with an error estimate for time‐fractional biological population equation in terms of the Caputo derivative using a new technique called the fractional decomposition method (FDM). Further, we present exact solutions to four test problems of nonlinear time‐fractional biological population models to show the accuracy and efficiency of the FDM. This method based on constructing series solutions in a form of rapidly convergent series with easily computable components and without the need of linearization, discretization and perturbations. The results prove that the FDM is very effective and simple for solving fractional partial differential equations in multi‐dimensional spaces, special cases of which we have described in this paper.
Opsoclonus‐myoclonus syndrome associated with neuroblastoma: Insights into antitumor immunity
Authors: Du Hongmei , Cai Weisong 
Published: September 2022

AbstractOpsoclonus‐myoclonus syndrome (OMS) is a rare neurological disorder. Half of these cases occur in children with neuroblastoma. Neuroblastoma patients with OMS usually have better oncological outcomes than those without OMS even after stratification by tumor stage and age, indicating that factors mediating OMS may also inhibit tumor cell proliferation. Although the mechanisms underlying OMS remain undefined, the cytokines and lymphocytes alterations in the cerebrospinal fluid support the concept that it is a pattern of neuroinflammation due to an autoimmune effect. The presence of lymphoid follicles consisting of follicular dendritic cells, CD20+B lymphocytes, CD3+T lymphocytes, and CD68+macrophages in the tumor microenvironment in OMS‐associated neuroblastoma support the autoimmune nature of this disorder. This review focuses on the clinical and genetic features of OMS‐associated neuroblastoma, and we update readers on immune features of neuroblastoma with or without OMS to gain insights into antitumor immunity as it relates to tumor biology and prognosis.
Sirolimus for management of GI bleeding in blue rubber bleb nevus syndrome: A case series
Authors: Duong Jennifer T. , Geddis Amy , Carlberg Katie , Rudzinski Erin , Len Mary , Zheng Hengqi B. 
Published: September 2022

AbstractBlue rubber bleb nevus syndrome (BRBNS) commonly presents with anemia from bleeding gastrointestinal (GI) vascular malformations. Management is highly variable, as no consensus guidelines for medical treatment currently exist. Sirolimus has been used in BRBNS to decrease GI bleeding and seems well tolerated, though questions remain regarding dosing, duration of therapy, and adverse effects. Here, we report our single‐center experience of four pediatric patients with BRBNS who were successfully treated with sirolimus and review the existing literature regarding sirolimus for treatment of GI bleeding in BRBNS. Further prospective studies are needed to establish optimal dosage, drug monitoring, and duration.
The pathophysiology of bilateral and multifocal Wilms tumors: What we can learn from the study of predisposition syndromes
Authors: Welter Nils , Brzezinski Jack , Treece Amy , Chintagumpala Murali , Young Matthew D. , Perotti Daniela , Kieran Kathleen , Jongmans Marjolijn C. J. , Murphy Andrew J. 
Published: September 2022

AbstractApproximately 5% of patients with Wilms tumor present with synchronous bilateral disease. The development of synchronous bilateral Wilms tumor (BWT) is highly suggestive of a genetic or epigenetic predisposition. Patients with known germline predisposition to Wilms tumor (WT1 variants, Beckwith Wiedemann spectrum, TRIM28 variants) have a higher incidence of BWT. This Children's Oncology Group (COG)‐International Society for Pediatric Oncology (SIOP‐) HARMONICA initiative review for pediatric renal tumors details germline genetic and epigenetic predisposition to BWT development, with an emphasis on alterations in 11p15.5 (ICR1 gain of methylation, paternal uniparental disomy, and postzygotic somatic mosaicism), WT1, TRIM28, and REST. Molecular mechanisms that result in BWT are often also present in multifocal Wilms tumor (multiple separate tumors in one or both kidneys). We identify priority areas for international collaborative research to better understand how predisposing genetic or epigenetic factors associate with response to neoadjuvant chemotherapy, oncologic outcomes, and long‐term renal function outcomes.
Stalking perpetration through the lens of the alternative DSM‐5 model for personality disorders
Authors: Gamache Dominick , Cloutier Marie‐Ève , Faucher Jonathan , Leclerc Philippe , Savard Claudia 
Published: September 2022

AbstractEmerging dimensional models of personality disorders such as the Alternative DSM‐5 Model for Personality Disorders (AMPD) provide new opportunities to explore the associations between personality pathology and harmful interpersonal behaviours such as stalking perpetration. Two goals are pursued by this study: (a) To document associations between stalking, level of personality pathology, and pathological personality domains/facets; and (b) to determine the relative importance of maladaptive personality facets in the statistical prediction of stalking. Data from 1489 young adults (18–30 years old) from a community sample were analysed. Moderate positive significant correlations were found between stalking, level of personality pathology, and maladaptive personality domains. A clear gradient of severity of stalking behaviours was found across five severity degrees of personality pathology. Dominance analyses revealed that Deceitfulness was the most dominant statistical predictor in women. Unusual Beliefs and Experiences, a facet from the Psychoticism domain, made an important contribution in the prediction of stalking in men only. Impulsivity was a key predictor in both genders but more markedly in men. Results suggest that the AMPD represents a useful framework to study stalking perpetration. Identification of key personality predictors might prove relevant for identifying risk factors, underlying motives, and treatment targets for stalking perpetrators.
Industrial control system risk assessment standards and leading practices in the chemical industry
Authors: Cusimano John 
Published: September 2022

AbstractThere is no simple recipe for how to secure an industrial automation and control system (IACS) and there is good reason for this. It is because security is a matter of risk management. Every IACS presents a different risk to the organization depending upon the threats it is exposed to, the likelihood of those threats arising, the inherent vulnerabilities in the system, and the consequences if the system were to be compromised. Furthermore, every organization that owns and operates an IACS has a different tolerance for risk. The new ISA/IEC standard, 62443 Part 3‐2, Security Risk Assessment for System Design, strives to define a set of engineering measures that will guide an organization through the process of assessing the risk of a particular IACS and identifying and applying security countermeasures to reduce that risk to tolerable levels. This paper provides an overview of the purpose and objectives as well as an overview of the workflows and requirements defined in this standard.
Healthcare resource utilization and quality of life in patients with sarcoidosis‐associated pulmonary hypertension
Authors: Lawrie Allan , Hamilton Neil , Wood Steven , Exposto Fernando , Muzwidzwa Ruvimbo , Raiteri Louise , Beaudet Amélie , Muller Audrey , Sauter Rafael , Pillai Nadia , Kiely David G. 
Published: September 2022

AbstractA retrospective, observational cohort study was conducted to generate real‐world evidence in adult patients diagnosed with sarcoidosis‐associated pulmonary hypertension (SAPH) at a referral center in England between 2012 and 2019. Data from the referral center electronic medical record database were linked to the National Health Service Hospital Episode Statistics database to collect and analyze patient demographics, clinical characteristics, comorbidities, treatment patterns, health‐related quality of life (HRQoL; assessed using the EmPHasis‐10 questionnaire), healthcare resource utilization (HCRU), costs, and survival. Sixty‐two patients with SAPH were identified. At diagnosis, 84% were in WHO functional class III and presented with significant pulmonary hemodynamic impairment. Cardiovascular and respiratory comorbidities were commonly reported prediagnosis. Median EmPHasis‐10 score at diagnosis was 34, indicative of poor HRQoL. In the 1st year after diagnosis, median (Q1, Q3) per‐patient HCRU was 1 (0, 2) all‐cause inpatient hospitalizations; 3 (2, 4) same‐day hospitalizations; and 9 (6, 11) outpatient consultations. In 24 patients who were hospitalized longer than 1 day in the 1st year after diagnosis, the median duration of hospitalization was 4 days. With a median follow‐up of 1.8 years, the median overall survival was 2.9 years. In this cohort of patients with SAPH, poor HRQoL and high HCRU were observed following diagnosis. To our knowledge, this is the first study to report on HRQoL and HCRU in patients with SAPH. More research is needed on treatment options for this population with high unmet needs.