bluuebunny/crossref_metadata_2025_split huggingface dataset:
Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype
Authors: Mohammed Idris , Al‐Khawaga Sara , Bohanna David , Shabani Abdusamea , Khan Faiyaz , Love Donald R. , Nawaz Zafar , Hussain Khalid 
Published: April 2020

AbstractBackgroundThere are few reports describing the proximal deletions of the short arm of chromosome 20, making it difficult to predict the likely consequences of these deletions. Most previously reported cases have described the association of 20p11.2 deletions with Alagille syndrome, while there are others that include phenotypes such as panhypopituitarism, craniofacial dysmorphism, polysplenia, autism, and Hirschsprung disease.MethodsMolecular karyotyping, cytogenetics, and DNA sequencing were undertaken in a child to study the genetic basis of a complex phenotype consisting of craniofacial dysmorphism, ocular abnormalities, ectopic inguinal testes, polysplenia, growth hormone deficiency, central hypothyroidism, and gastrointestinal system anomalies.ResultsWe report the smallest described de novo proximal 20p11.2 deletion, which deletes only the FOXA2 leading to the above complex phenotype.ConclusionsHaploinsufficiency of the FOXA2 only gene is associated with a multisystem disorder.
Chronic postoperative complications and donor site morbidity after sural nerve autograft harvest or biopsy
Authors: Ducic Ivica , Yoon Joshua , Buncke Gregory 
Published: April 2020

AbstractBackgroundThe sural nerve is the most frequently harvested nerve autograft and is most often biopsied in the workup of peripheral neuropathy. While the complication types associated with these two procedures are well known, their clinical significance is poorly understood and there is a paucity of data regarding the complication rates.MethodsPubmed search identified studies regarding complications after sural nerve harvest and biopsy. The data was grouped into sensory deficits, chronic pain, sensory symptoms, wound infections, wound complications, other postoperative complications, and complications impacting daily life. The incidence of each complication was calculated, and a chi‐square analysis was performed to determine if there were any differences between nerve biopsies and graft harvest with respect to each complication.ResultsTwelve studies yielded 478 sural nerve procedures. Sensory deficits occurred at a rate of 92.9%, chronic pain at 19.7%, sensory symptoms at 41.1%, wound infections at 5.7%, noninfectious wound complications at 7.8%, and impact on daily life at 5.0%. The differences in wound infections, sensory symptoms, and impact on daily life between biopsies versus graft excisions were found to reach statistical significance (p < .05).ConclusionsSural nerve excisions can cause chronic postoperative donor‐site complications. Given these complications, alternative available mediums for nerve reconstruction should be explored and utilized wherever appropriate. If an alternative medium is unavailable and nerve autograft must be harvested for nerve reconstruction, then patients should be counseled about risks for developing donor site complications that may negatively affect quality of life.
The Preventive Effects of Pterostilbene on the Exercise Intolerance and Circadian Misalignment of Mice Subjected to Sleep Restriction
Authors: Liu Yang , Lang Hedong , Zhou Min , Huang Li , Hui Suocheng , Wang Xiaolan , Chen Ka , Mi Mantian 
Published: April 2020

ScopeThe study investigates the effects of pterostilbene (PTE) on exercise endurance and circadian rhythm in sleep‐restricted (SR) mice.Methods and resultsThe SR model is established by keeping mice awake during the first 8 h of light period for 5 d and PTE (100 mg kg−1 d−1) is given once a day. PTE improves endurance in SR mice by significantly prolonging the exhaustive swimming time and ameliorating exercise fatigue biochemical parameters, including creatine kinase and lactate dehydrogenase. It is observed that PTE effectively regained mitochondrial function by improving mitochondrial swelling and maintaining oxidative phosphorylation system–related genes expression, and inhibited the decrease of mitochondrial biogenesis–related genes expression. Furthermore, PTE restores rhythms of AMP‐activated protein kinase (AMPK) phosphorylation activity, silent information regulator 1 (SIRT1) deacetylation activity, and SIRT1‐mediated peroxisome proliferator‐activated receptor coactivator 1α (PGC‐1α) deacetylation in SR mice. Finally, the results demonstrate that the AMPK/SIRT1/PGC‐1α pathway may be correlated with the relationships between mitochondrial function and circadian rhythms, markedly regulating the expression of skeletal muscle clock genes, circadian locomotor output cycles kaput, and brain and muscle arnt‐like 1.ConclusionsPTE ameliorates SR‐induced exercise intolerance associated with circadian misalignment and mitochondrial dysfunction through AMPK/SIRT1/PGC‐1α pathway.
Triacylglycerol‐Rich Oils of Marine Origin are Optimal Nutrients for Induction of Polyunsaturated Docosahexaenoic Acid Ester of Hydroxy Linoleic Acid (13‐DHAHLA) with Anti‐Inflammatory Properties in Mice
Authors: Paluchova Veronika , Vik Anders , Cajka Tomas , Brezinova Marie , Brejchova Kristyna , Bugajev Viktor , Draberova Lubica , Draber Petr , Buresova Jana , Kroupova Petra , Bardova Kristina , Rossmeisl Martin , Kopecky Jan , Hansen Trond Vidar , Kuda Ondrej 
Published: April 2020

ScopeThe docosahexaenoic acid ester of hydroxy linoleic acid (13‐DHAHLA) is a bioactive lipid with anti‐inflammatory properties from the family of fatty acid esters of hydroxy fatty acids (FAHFA).Methods and resultsTo explore the biosynthesis of 13‐DHAHLA from dietary oils, C57BL/6N mice are gavaged for 8 days with various corn oil/marine oil mixtures containing the same amount of DHA. Plasma levels of omega‐3 FAHFAs are influenced by the lipid composition of the mixtures but do not reflect the changes in bioavailability of polyunsaturated fatty acids in plasma. Triacylglycerol‐bound DHA and linoleic acid serve as more effective precursors for 13‐DHAHLA synthesis than DHA bound in phospholipids or wax esters. Both 13(S)‐ and 13(R)‐DHAHLA inhibit antigen and PGE2‐induced chemotaxis and degranulation of mast cells to a comparable extent and 13(S)‐DHAHLA is identified as the predominant isomer in mouse adipose tissue.ConclusionHere, the optimal nutritional source of DHA is identified, which supports production of anti‐inflammatory FAHFAs, as triacylglycerol‐based marine oil and also reveals a possible role of triacylglycerols in the synthesis of FAHFA lipokines.
Interdigital capacitor loaded electric‐LC resonator for dielectric characterization
Authors: Kapoor Anush , Varshney Prashant Kumar , Akhtar M. Jaleel 
Published: April 2020

AbstractA high sensitivity microstrip line‐based sensor loaded with the electric‐LC (ELC) resonator is proposed in this work for the accurate characterization of dielectric materials. The high sensitivity in the present situation is achieved due to usage of novel interdigital capacitor in the ELC resonator topology, which actually provides enhanced electric field for dielectric testing. The proposed sensor is designed in the S band regime, and various standard dielectric samples are tested to validate the proposed design. For retrieving the dielectric constants of these samples, an empirical relationship is proposed relating the dielectric properties with the resonant frequency of the sensor. The proposed empirical model is further improved by introducing two error terms to take into consideration the effect of fabrication tolerance of the sensor and surface roughness of the test specimen. The normalized sensitivity of the proposed sensor using standard procedure is estimated to be 5.14%, which is reasonably higher than that of other sensors reported in literature.
Technical Note: Taking EGSnrc to new lows: Development of egs++ lattice geometry and testing with microscopic geometries
Authors: Martinov Martin P. , Thomson Rowan M. 
Published: April 2020

PurposeThis work introduces a new lattice geometry library, egs_lattice, into the EGSnrc Monte Carlo code, which can be used for both modeling very large (previously unfeasible) quantities of geometries (e.g., cells or gold nanoparticles (GNPs)) and establishing recursive boundary conditions. The reliability of egs_lattice, as well as EGSnrc in general, is cross‐validated and tested at short length scales and low energies.MethodsNew Bravais, cubic, and hexagonal lattice geometries are defined in egs_lattice and their transport algorithms are described. Simulations of cells and GNP‐containing cavities are implemented to compare to independent, published Geant4‐DNA and PENELOPE results. Recursive boundary conditions, implemented through a cubic lattice, are used to perform electron Fano cavity tests. The Fano test is performed on three different‐sized cells containing GNPs in the region around the nucleus for three source energies.ResultsLattices are successfully implemented in EGSnrc, and are used for validation. EGSnrc calculated the dose to cell cytoplasm and nucleus when irradiated by an internal electron source with a median difference of 0.6% compared to published Geant4‐DNA results. EGSnrc calculated the ratio of dose to a microscopic cavity containing GNPs over dose to a cavity containing a homogeneous mixture of gold, and results generally agree (within 1%) with published PENELOPE results. The electron Fano cavity test is passed for all energies and cells considered, with sub‐0.1% discrepancies between EGSnrc‐calculated and expected values. Additionally, the recursive boundary conditions used for the Fano test provided a factor of over a million increase in efficiency in some cases.ConclusionsThe egs_lattice geometry library, currently available as a pull request on the EGSnrc GitHub “develop” branch, is now freely accessible as open‐source code. Lattice geometry implementations cross‐validated with independent simulations in other MC codes and verified with the electron Fano cavity test demonstrate not only the reliability of egs_lattice, but also, by extension, EGSnrc’s ability to simulate transport in nanometer geometries and score in microscopic cavities.
Multicenter evaluation of MRI‐based radiomic features: A phantom study
Authors: Rai Robba , Holloway Lois C. , Brink Carsten , Field Matthew , Christiansen Rasmus L. , Sun Yu , Barton Michael B. , Liney Gary P. 
Published: April 2020

IntroductionThis work describes the development of a novel radiomics phantom designed for magnetic resonance imaging (MRI) that can be used in a multicenter setting. The purpose of this study is to assess the stability and reproducibility of MRI‐based radiomic features using this phantom across different MRI scanners.Methods & materialsA set of phantoms were three‐dimensional (3D) printed using MRI visible materials. One set of phantoms were imaged on seven MRI scanners and one was imaged on one MRI scanner. Radiomics analysis of the phantoms, which included first‐order features, shape and texture features was performed. Intraclass correlation coefficient (ICC) was used to assess the stability of radiomic features across eight scanners and the reproducibility of two printed models on one scanner. Coefficient of variation (COV) was used to assess the reproducibility of radiomics measurements in the phantom on a single scanner.ResultsThe phantom models provide sufficient signal‐to‐noise and contrast in all the tumor models permitting robust automatic segmentation. During a 12‐month period of monitoring, the phantom material was stable with T1 and T2 of 150.7 ± 6.7 ms and 56.1 ± 3.9 ms, respectively. Of all the radiomic features computed, 34 of 69 had COV < 10%. Features from first‐order statistics were the most robust in stability across the eight scanners with eight of 12 (67%) having high stability. About 29 of 50 (58%) texture features had high stability and no shape features had high stability features across the eight scanners.ConclusionA novel MRI radiomics phantom has been developed to assess the reproducibility and stability of MRI‐based radiomic features across multiple institutions. The variation in radiomic feature stability demonstrates the need for caution when interpreting these features for clinical studies.
A patient‐centered medical home model for comprehensive sickle cell care in infants and young children
Authors: Barriteau Christina M. , Murdoch Alexandra , Gallagher Shannon J. , Thompson Alexis A. 
Published: April 2020

AbstractBackgroundThe patient‐centered medical home (PCMH) has been proposed as a model for comprehensive care coordination and delivery for children with sickle cell disease (SCD), yet little is known regarding the implementation of PCMH core concepts on adherence to preventative care measures, health care utilization, and parent satisfaction.ProcedureWe implemented the newborn cohort clinic (NCC) to explore the application of the PCMH model for infants and children with SCD from birth to age 3 years in 2011. In July 2017, we conducted a retrospective chart review to evaluate subjects currently or previously followed in the clinic. We surveyed parents in the NCC to assess their satisfaction with their experience.ResultsA total of 112 patients have been managed in the NCC. All patients received penicillin prophylaxis, while 70% and 73% of patients, respectively, received the 23‐valent pneumococcal vaccine and an initial transcranial Doppler by age 36 months. Most (92 of 112) of the subjects utilized the emergency department (569 encounters), with 86% of encounters for fever or other sickle cell–related complications. The majority of parents indicated satisfaction with the clinic, with 71% saying clinic providers always or usually spent enough time with their child, listened carefully to them (81%) and were sensitive to family values and customs (77%).ConclusionsA comprehensive sickle cell clinic as a component of a PCMH is feasible and can achieve high levels of preventative care. Parents are largely satisfied with this model of care.
Acute lymphoblastic leukemia clonal distribution between bone marrow and peripheral blood
Authors: Fries Carol , Adlowitz Diana G. , Spence Janice M. , Spence John P. , Rock Philip J. , Burack W. Richard 
Published: April 2020

AbstractAcute lymphoblastic leukemia (ALL) is often composed of numerous subclones. Here we test whether the clonal composition of the blood is representative of the bone marrow at leukemia onset. Using ultra‐deep IGH sequencing, we detected 28 clones across 16 patients; 5/28 were only in the marrow. In four patients, the most abundant clones differed between sites, including three in which the dominant medullary clones were minimally detectable in the blood. These findings demonstrate that the peripheral blood often underrepresents the genetic heterogeneity in a B‐ALL and highlight the potential impact of tissue site selection on the detection of minor subclones.
Fathers' psychological responses to pediatric cancer–induced financial distress
Authors: Santacroce Sheila Judge , Killela Mary K. , Kerr Gavin , Leckey Jill A. , Kneipp Shawn M. 
Published: April 2020

AbstractBackgroundTo describe how pediatric cancer–induced financial distress and perceptions of their social role affected fathers’ psychological responses to this distress, and quality of life (QOL) for them and their families.ProcedureWe analyzed father‐only responses from a larger cross‐sectional survey study about the impact of pediatric cancer–induced financial distress on parents. Our analytic sample was n = 87 fathers who participated in the larger study. We analyzed their data using descriptive statistics and directed content analysis.ResultsConflicting role responsibilities (be there for child; work to maintain income and insurance coverage) seemed to generate responses resembling characteristic posttraumatic stress symptoms in reaction to acute declines in family finances and/or the chronic stress of insufficient finances to meet financial demands, that is, financial trauma. Fathers’ personal sense of not being able to adequately provide for their child with cancer and also meet their family's basic needs produced embarrassment and humiliation, which led to discomfort talking about finances; fear, persistent thoughts and anxiety about money; reduced joy; beliefs that they did not deserve to express their needs; and feeling vulnerable to repeated financial stressors.ConclusionsPediatric cancer–induced financial burden contributed to fathers’ symptom severity and burden, and QOL declines. Clinicians should develop sensitivity to the multiple ways that pediatric cancer affects individuals and families. Future research should examine the effects of pediatric cancer–induced financial burden on mothers, and develop ways to sensitively and systematically assess financial burden, associated psychological responses and declines in QOL, and intervene as indicated.
Multicystic and diffuse malignant peritoneal mesothelioma in children
Authors: Vermersch Sophie , Arnaud Alexis , Orbach Daniel , Andre Nicolas , Berger Claire , Kepenekian Vahan , Brigand Cécile , Fresneau Brice , Poli‐Merol Marie‐Laurence , Habougit Cyril , Varlet François , Scalabre Aurélien 
Published: April 2020

AbstractBackgroundMalignant and multicystic peritoneal mesotheliomas are extremely rare tumors in children, developing from mesothelial cells. No specific guidelines are available at this age.MethodsWe performed a retrospective analysis of all identified children (< 18‐year‐old) treated in France from 1987 to 2017 for a diffuse malignant peritoneal mesothelioma (DMPM) or a multicystic peritoneal mesothelioma (MCPM).ResultsFourteen patients (5 males and nine females), aged 2.2 to 17.5 years, were included. The most frequent presenting symptoms were abdominal pain, ascitis, and alteration in the general condition. Eight patients had epithelioid mesothelioma, three had biphasic mesothelioma, and three had MCPM. Eight patients with DMPM diagnosis received cytoreductive surgery (CRS) with hyperthermic intraperitoneal chemotherapy (HIPEC). Among them, six patients had neoadjuvant systemic chemotherapy, one patient, post‐operative chemotherapy, and one patient CRS and HIPEC only. Three patients received only systemic chemotherapy. All patients with MCPM had only surgery. After a median follow‐up of seven years (2‐15), six patients (6/11; one death) with DMPM and two patients (two/three) with MCPM had a local and distant recurrences.ConclusionPeritoneal mesothelioma in children is a rare condition with difficult diagnosis and high risk of recurrence. Worldwide interdisciplinary collaboration and networking are mandatory to help diagnosis and provide harmonious treatment guidelines.
Neonatal management of prenatally suspected coarctation of the aorta
Authors: Hede Sannya V. , DeVore Greggory , Satou Gary , Sklansky Mark 
Published: April 2020

AbstractObjectives(a) To determine the false‐positive rate among newborns with prenatally suspected coarctation of the aorta (CoA) within the UCLA Health system, (b) to compare patient and maternal interventions and outcomes between false‐positive cases and normal controls, and (c) to determine the timing of clinical presentation of CoA.MethodsWe performed a single‐center, retrospective case control study of all fetuses with suspected isolated CoA who underwent both fetal echocardiographic evaluation and subsequent delivery at UCLA between January 1, 2011, and December 31, 2018. Maternal and neonatal medical records were reviewed for demographic and clinical data, for cases of suspected CoA and for controls. A separate review of our institution's surgical database was performed to identify characteristics of all patients (neonatal and pediatric) with isolated CoA who underwent surgical repair during the same time period.ResultsAmong the 50 fetal cases of isolated suspected CoA who delivered at our institution, 47 patients (94%) were found to be normal (false positives). Compared with normal controls, patients with suspected CoA were more likely to have delayed maternal bonding, delayed feeding, admission to the intensive care unit, performance of neonatal echocardiograms, initiation of intravenous fluids and initiation of prostaglandin E1, and a longer length of hospital stay. Among the 38 patients undergoing CoA repair at our institution during the study period, four patients were prenatally diagnosed and no patient presented clinically with symptoms before 48 hours after delivery.ConclusionCompared with normal controls, patients with prenatally suspected coarctation are more likely to have delayed maternal bonding, delayed feeding, more frequent neonatal echocardiograms, and longer length of hospital stay. Further refinement of neonatal management may improve postnatal care.
Periventricular pseudocysts of noninfectious origin: Prenatal associated findings and prognostic factors
Authors: Levy Michal , Lev Dorit , Leibovitz Zvi , Kashanian Alon , Gindes Liat , Tamarkin Mordechai , Shalev Josef , Sira Liat B. , Mizrachi Yossi , Borovich Adi , Birnbaum Roee , Lerman‐Sagie Tally , Malinger Gustavo , Haratz Karina K. 
Published: April 2020

AbstractObjectiveThe purpose of this study was to establish prognostic factors in fetuses diagnosed with periventricular pseudocysts (PVPCs) without known congenital infection, between 28 and 37 weeks of gestation.MethodsThis retrospective study included cases of fetal PVPC from 2008 to 2018. PVPCs were classified according to location, number, extension, morphology, and size. Additional findings, MRI and genetic studies were recorded. Pregnancy outcome, postnatal, or postmortem results were obtained. Images from patients with normal (Group 1) and abnormal postnatal development (Group 2) were compared for analysis of factors predictive of outcome.ResultsOne‐hundred and fifteen pseudocysts were observed in 59 patients. In 34 fetuses (57%), the PVPC was an isolated finding. Thirty‐nine patients delivered live newborns, 27% opted for termination of pregnancy, and 4 patients were lost to follow‐up. Eighty‐four percent of the liveborns had normal development. When assessing for the influence of pseudocyst characteristics, a wide CSP, or large head circumference, neither of these affected the outcome. The presence of additional anomalies was the only positive predictor for abnormal development regradless of specific PVPC characteristics (P = .002).ConclusionsIn fetuses with PVPCs, the presence of additional anomalies was the only predictor for adverse postnatal outcome. No association between cystic characteristics and adverse outcome was observed.
Pressure‐assisted strategy for the synthesis of vinyl pyrrolidone‐based macro‐star photoiniferters. A route to star block copolymers
Authors: Maksym Paulina , Tarnacka Magdalena , Bernat Roksana , Bielas Rafał , Mielańczyk Anna , Hachuła Barbara , Kaminski Kamil , Paluch Marian 
Published: April 2020

AbstractStar‐shaped 1‐vinyl‐2‐pyrrolidone (VP)‐based polymers having four pendant arms were produced via high‐pressure RAFT using the trithiocarbonate‐functionalized core. The use of compression (p = 250 MPa) significantly reduced or eliminated star‐star/star‐chain coupling side reactions and termination process characteristics the for “core‐first” R‐type approach, still allowing for a “pseudo‐living” reaction course up to very high monomer conversion (>98%). Consequently, tailored and highly living star‐shaped poly(1‐vinyl‐2‐pyrrolidone)s (PVP) in a wide range of molecular weights M
n = 2.0–175.6 kg/mol (Đ = 1.18–1.80) have been obtained. The chain extension of the produced polymer was carried out with methyl methacrylate (MMA) via photo‐induced RAFT (λ = 365 nm) in the presence of tertiary amine catalyst, yielding well‐defined amphiphilic star‐shaped block copolymers. DSC measurements showed that synthesized star‐shaped PVP homopolymers revealed much lower glass transition temperature values compared to their commercially supplied linear analogs.