bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genotype and phenotype classification of 29 patients affected by Krabbe disease
Authors: Madsen Anna M. H. , Wibrand Flemming , Lund Allan M. , Ek Jakob , Dunø Morten , Østergaard Elsebet 
Published: September 2023

AbstractKrabbe disease is a rare neurodegenerative lysosomal storage disorder caused by mutations in the galactocerebrosidase gene, GALC. Krabbe disease usually affects infants, but has also been reported in older children and adults. Different phenotypes are described based on age at onset. The gene encoding the galactocerebrosidase enzyme was cloned and expressed in 1993, and up until today 117 mutations have been described. In a patient population of Northern European origin, a 30‐kb deletion and two missense mutations, c.1586C>T; p.T529M and c.1700A>C; p.Y567S, are expected to account for 50%‐60% of pathogenic alleles. In this study, we present information on genetic variation, enzyme activity, and phenotypes of 29 patients affected by Krabbe disease. Patient data were collected from patient files at the Department of Clinical Genetics, Rigshospitalet. Ten previously unreported mutations were identified, including four missense mutations; c.1142C>T; p.T381I, c.596G>T; p.R199M, c.443G>A; p.G148E, c.1858G>A; p.G620R, two nonsense mutations; c.863G>A; p.W288*, c.1214c>G; p.S405*, one splice site mutation; c.442+1G>A, one insertion; c.293insT and two deletions; c.1003_1004del, c.887delA. For all of the new mutations, we were able to classify them in phenotype groups. Furthermore, we present a combined allele frequency of the three frequent mutations p.T529M, p.Y567S, and the 30‐kb deletion of 62%, and we describe a broadening of the phenotypes associated with the mutations p.T529M and p.Y567S.
Ten‐year retrospective review (2003‐2013) of 56 inpatient admissions to stabilize elevated phenylalanine levels
Authors: Clark Anne , Merrigan Christine , Crushell Ellen , Hughes Joanne , Knerr Ina , Monavari Ardeshir A. , Treacy Eileen , Coughlan Aoife 
Published: September 2023

AbstractPhenylketonuria (PKU) is an inherited metabolic disorder affecting phenylalanine metabolism. The Irish incidence is 1:4500. Currently, there are 500 patients under the care of the National Centre for Inherited Metabolic Disorders in Temple Street Children's University Hospital. Current practice is to admit PKU patients with phenylalanine (phe) levels that are consistently out of range despite an intensive multidisciplinary team input on an outpatient basis. The aim of this study was to evaluate changes in phe levels pre, during, and post admissions and to examine if there was a sustained impact post discharge. Fifty‐six patients were admitted between January 2003 and December 2013. Patients were all <18 years of age. Greater than 70% (n = 39) of the reasons for admission were due to multiple issues. Average admission time was 5 days. There was a significant decrease in median phe levels from prior to the admission to during the admission. However, there was a significant increase in median phe levels from during the admission (505 μmol/L) to both the 1‐6 months' and 7‐12 months' time points (618 and 651 μmol/L, respectively). The results highlight that while inpatient admissions can stabilize levels within the acute setting, this is not sustained long term. The ward environment does not accurately replicate home circumstances. This study highlighted that the reasons for admission are most often multifactorial, which is less likely to be resolved during a brief admission period.
Tarsal tunnel syndrome in the mucopolysaccharidoses: A case series and literature review
Authors: Williams Nicole , Willet Jake , Clark Damian , Ketteridge David 
Published: September 2023

AbstractBackgroundThe mucopolysaccharidoses (MPS) are a group of inherited, progressive, multi‐system lysosomal storage disorders. Musculoskeletal manifestations include nerve entrapment syndromes, most commonly carpal tunnel syndrome. Tarsal tunnel syndrome (TTS) has also been reported. The purpose of this study was to investigate the clinical course of MPS patients with suspected TTS and to conduct a literature review of TTS in MPS.MethodsA review of the Medline and EMBASE databases was conducted in accordance with published guidelines from the Joanna Briggs Institute of Evidence Based Medicine with search strategy developed by a librarian trained in systematic reviews. A medical record review was undertaken for all patients managed in the multi‐disciplinary MPS clinic in a tertiary referral paediatric centre, identifying patients with a suspected or established diagnosis of TTS. Data regarding the demographics, investigations, presentation, management, and clinical course were collected.ResultsThe literature review failed to identify any published papers regarding TTS in MPS, with conference proceedings only identified. Within a cohort of 19 MPS patients, four patients with a suspected diagnosis of TTS were identified (MPS I: two patients, MPS VI: two patients). Three patients underwent surgical tarsal tunnel decompression, two with good result. One patient had overlapping symptoms with spinal stenosis and improvement in suspected tarsal tunnel symptoms following spinal decompression and fusion.
Environmental Sustainability and MRI: Challenges, Opportunities, and a Call for Action
Authors: Chaban Yuri V. , Vosshenrich Jan , McKee Hayley , Gunasekaran Suvai , Brown Maura J , Atalay Michael K. , Heye Tobias , Markl Michael , Woolen Sean A. , Simonetti Orlando P. , Hanneman Kate 
Published: September 2023

The environmental impact of magnetic resonance imaging (MRI) has recently come into focus. This includes its enormous demand for electricity compared to other imaging modalities and contamination of water bodies with anthropogenic gadolinium related to contrast administration. Given the pressing threat of climate change, addressing these challenges to improve the environmental sustainability of MRI is imperative. The purpose of this review is to discuss the challenges, opportunities, and the need for action to reduce the environmental impact of MRI and prepare for the effects of climate change. The approaches outlined are categorized as strategies to reduce greenhouse gas (GHG) emissions from MRI during production and use phases, approaches to reduce the environmental impact of MRI including the preservation of finite resources, and development of adaption plans to prepare for the impact of climate change. Co‐benefits of these strategies are emphasized including lower GHG emission and reduced cost along with improved heath and patient satisfaction. Although MRI is energy‐intensive, there are many steps that can be taken now to improve the environmental sustainability of MRI and prepare for the effects of climate change. On‐going research, technical development, and collaboration with industry partners are needed to achieve further reductions in MRI‐related GHG emissions and to decrease the reliance on finite resources.Level of Evidence5Technical EfficacyStage 6
Comparison of semen parameters in the same patients before and after diagnosis of COVID‐19
Authors: Cakir Cihan , Kuspinar Goktan , Kurt Gizem , Berber Miray , Aslan Kiper , Kasapoglu Isil , Uncu Gurkan , Avcı Berrin 
Published: September 2023

AbstractClinical and histopathological evidence suggest that the male reproductive system may be negatively impacted in patients with coronavirus disease (COVID‐19). The objective of this study is to investigate the effect of severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) on semen parameters by comparing semen analyses before and after COVID‐19 diagnosis in the same patient. We retrospectively analyzed 342 semen analyses by reviewing medical records. The study included two groups of patients: (i) those who underwent two consecutive semen analyses within 6 months, one before (n = 114) and one after (n = 114) COVID‐19 diagnosis, and (ii) a control group (n = 114) that was age‐matched and did not receive a diagnosis of COVID‐19. The study results indicated a significant decrease in semen volume, total sperm count per ejaculate, progressive motile sperm count, total motile sperm count, and normal sperm morphology after SARS‐CoV‐2 infection in comparison to their respective values before the infection. Subgroup analyses showed that the duration of COVID‐19 diagnosis (short‐term vs. long‐term) did not impact the changes in semen parameters. However, fever during the COVID‐19 process had a negative effect on semen parameters, particularly sperm concentration, unlike in patients without fever. In conclusion, our findings suggest that SARS‐CoV‐2 infection is associated with a decline in semen quality, which may potentially impact male fertility. Furthermore, it's important to note that the negative effects on semen parameters may persist in the long‐term. Our results also indicate that fever during active infection could be a significant risk factor that negatively affects spermatogenesis.
Asymmetric influence of the Pacific meridional mode on tropical cyclone formation over the western North Pacific
Authors: Song Jinjie , Klotzbach Philip J. , Wang Yi‐Fan , Duan Yihong 
Published: September 2023

AbstractThis study investigates the asymmetric response of western North Pacific (WNP) tropical cyclone (TC) formation during August–November to the Pacific meridional mode (PMM) from 1961 to 2021. Basinwide WNP TC frequency significantly increases (slightly decreases) during positive (negative) PMM years, implying a nonlinear PMM–TC frequency relationship. Only small spatial changes in TC formation occur during negative PMM years, while there is nearly a basinwide enhancement of TC formation during positive PMM years, particularly over the region of 5°–30°N and 135°–155°E. This region is characterized by significantly enhanced low‐level vorticity, mid‐level updrafts and upper‐level divergence during positive PMM years, all favouring TC development. By contrast, environmental anomalies are of a smaller magnitude and mostly insignificant over the WNP during negative PMM years. These distinct environmental changes during different PMM phases can be explained by differences in PMM strength. Positive PMM events are of a greater strength and are associated with a stronger wind–evaporation–sea surface temperature feedback than negative PMM events, leading to a notable anomalous large‐scale low‐level cyclonic circulation over the WNP in positive PMM events.
Comparison of the opposite behaviours of Korean heatwaves with extreme hot sea surface temperatures in August 2016 and 2022
Authors: Choi Nakbin , Lee Seonju 
Published: September 2023

AbstractIn South Korea, an unprecedented heatwave occurred in August 2016. That year, sea surface temperature (SST) in the Korean marginal seas (KMS) was remarkably higher than that in climatology, and upper‐level anticyclonic circulations favoured this heatwave. More recently, similar conditions that can expect the frequent occurrence of heatwaves prevailed in August 2022. However, the opposite extreme phenomenon, heatwave days below climatology, occurred with the emergence of a stationary rainband in South Korea. This study aims to understand the two different behaviours of heatwaves in Korea under the same hot SST conditions in the KMS. The most pronounced difference between these two extreme cases is the existence of moisture flux related to the western North Pacific summer monsoon (WNPSM). Although the WNPSM is not generally highly correlated with temperature and precipitation in Korea, their relationship is particularly strong when hot SST conditions develop in the KMS. This SST condition, combined with the WNPSM, plays a role in determining this anomalous moisture flux in Korea. Enough tropical moisture flux occurred to build a stationary front with declining heatwave days during August 2022. In contrast, extremely dry and hot weather was more likely in 2016 due to inactive moisture fluxes from the western North Pacific.
GHz Figure‐9 Er‐Doped Optical Frequency Comb Based on Nested Fiber Ring Resonators
Authors: Cao Xinru , Zhou Jiaqi , Cheng Zhi , Li Sha , Feng Yan 
Published: September 2023

AbstractThe field of optical‐frequency‐combs (OFCs) has seen significant progress in recent years due to the advance of mode‐locked fiber lasers with low‐noise performance and long‐term reliability. With the emergence of applications, OFCs with repetition rates close to GHz have become highly sought after. However, generating GHz fiber‐based combs with low noise remains a significant challenge. In this study, a GHz figure‐9 Er‐doped OFC based on a nested fiber ring resonator is presented. By matching the free‐spectral range (FSR) of external and internal optical resonators, an 11‐fold increase in repetition rate from 82 MHz to 907 MHz is achieved. Notably, it is demonstrated that a single pulse operation with long‐term FSR matching can be achieved without any active feedback control. The comb offset frequency is detected using f‐to‐2f technique to ensure high coherence between pulses, which is distinguished from harmonic mode‐locking. The results show that the nested resonators are capable of generating GHz ultrafast OFC pulses with low phase noise via a more flexible cavity design than conventional short‐cavity solutions. This work provides a valuable contribution to the field of ultrafast laser and optical metrology, which demonstrates the potential of nested‐resonators for generating low noise OFCs with boosted repetition rate.
Hybrid Macromolecular Constructs as a Platform for Spectral Nanoprobes for Advanced Cellular Barcoding in Flow Cytometry
Authors: Kudláčová Júlia , Kužílková Daniela , Bárta František , Brdičková Naděžda , Vávrová Adéla , Kostka Libor , Hovorka Ondřej , Kalina Tomáš , Etrych Tomáš 
Published: September 2023

AbstractHerein, an advanced bioconjugation technique to synthesize hybrid polymer‐antibody nanoprobes tailored for fluorescent cell barcoding in flow cytometry‐based immunophenotyping of leukocytes is applied. A novel approach of attachment combining two fluorescent dyes on the copolymer precursor and its conjugation to antibody is employed to synthesize barcoded nanoprobes of antibody polymer dyes allowing up to six nanoprobes to be resolved in two‐dimensional cytometry analysis. The major advantage of these nanoprobes is the construct design in which the selected antibody is labeled with an advanced copolymer bearing two types of fluorophores in different molar ratios. The cells after antibody recognition and binding to the target antigen have a characteristic double fluorescence signal for each nanoprobe providing a unique position on the dot plot, thus allowing antibody‐based barcoding of cellular samples in flow cytometry assays. This technique is valuable for cellular assays that require low intersample variability and is demonstrated by the live cell barcoding of clinical samples with B cell abnormalities. In total, the samples from six various donors were successfully barcoded using only two detection channels. This barcoding of clinical samples enables sample preparation and measurement in a single tube.
Influence of Hot‐Press Temperature on β‐Phase Formation and Electrical Properties of Solvent‐Casted PVDF‐HFP Co‐Polymer Films Prepared from Two Different Solvents: A Comparison Study
Authors: Lipsa Loree , Rajput Shailendra , Parida Sabyasachi , Ghosh Surya Prakash , Verma Sushil Kumar , Gupta Sonika 
Published: September 2023

AbstractPoly(vinylidene fluoride)‐co‐hexafluoropropylene (PVDF‐HFP) co‐polymer films are prepared via solution casting followed by hot‐press method. Two different types of solvents, viz., solvent mixture DMF and acetone and single solvent only DMF are used to prepare two sets of samples which are then hot‐pressed at various temperatures (110, 120, and 130 °C) to study the effect of hot‐press temperature on samples prepared from different types of solvents. X‐ray diffraction (XRD) and Fourier transform infrared (FTIR) spectra shows formation of electroactive β‐phase whose fraction remaining above 71% for all the synthesized samples. Differential scanning calorimetry (DSC) is performed to obtain the degree of crystallinity of the as‐prepared samples and the hot‐pressed samples seemed to have a single exothermic melting peak instead of two in case of the casted ones. Dielectric properties and AC conductivity of the samples are also studied. The highest dielectric constant among the synthesized samples is found to be ≈12 at 1 kHz at room temperature. The static hysteresis loops are traced for all the as‐synthesized films. Remnant polarization is found to increase with increase in the hot‐press temperature, the coercive field remaining almost similar for all of them. The PUND analysis is also carried out for the all as‐prepared samples. A comparison study is presented through this report, emphasizing the influence of hot‐press temperature on β‐phase fraction of PVDF‐HFP films prepared from two different types of solvents, intended for energy harvesting and storage applications.
Ionic Liquid‐Mediated Biopolymer Extraction from Coffee Fruit
Authors: Rieland Julie M. , Nikafshar Saeid , Hu Zeyuan , Nejad Mojgan , Love Brian J. 
Published: September 2023

AbstractIonic liquids (ILs) are effective solvents for biomass. Refined cellulose is commonly used; however, recent interest has grown to consider woody and herbaceous biomass and industrial crop residues like fruit peels. Here, the authors report results on the dissolution and shaping of cotton and coffee fruit (cascara) in 1,8‐diazabicyclo[5.4.0]undec‐7‐inium acetate ([DBUH][OAc]). Cascara is a high‐volume, low‐value crop residue that poses an environmental and economic burden in producer countries leading to a high‐value proposition if recoverable. Fruit/ionic liquid solutions (0–15% w/w dissolved at 60 °C) were characterized with respect to biomass concentration and shaped into fibers and films coagulated in DI water and methanol. Rheology was assessed using parallel plate rheometry. Cotton/IL mixtures formed better fibers compared to cascara‐based solutions, which required 2.6× more biomass in solution for viable fiber formation. At 10% loading, fibers could be produced from untreated coffee fruit with diameters ranging from 18–100 microns. Coffee fruit residues and their precipitated films show that both cellulose and lignin dissolve in pure [DBUH][OAc]. Chemical characterization of cascara and cascara films demonstrates the conveyance of high concentrations of lignin and extracts that result in weaker mechanical properties. Further purification of cascara is required for effective use in structural applications.
Ion Track Formation and Nanopore Etching in Polyimide: Possibilities in the MeV Ion Energy Regime
Authors: Kaur Rajdeep , Eljamal Ghada , Tran Tuan Thien , Primetzhofer Daniel , Ström Petter 
Published: September 2023

AbstractPolyimide films of thickness 7.5 µm are irradiated by a wide range of ions (1H to 197Au) with energies between 1.05 and 48 MeV. Irradiated samples are then chemically etched in sodium hypochlorite solution to investigate nanopore formation due to ion track etching. A threshold in terms of electronic stopping power, Set, needs to be surpassed to preferentially etch the ion tracks. Close to Set, intermittent tracks are formed where only part of the track is etchable. The fraction of these etchable parts increases as we move away from Set, toward higher stopping powers, eventually yielding continuous etchable tracks. Both intermittent and continuous track formation thresholds are observed to be velocity‐dependent, yielding a decrease of the thresholds in the present work compared to previously reported thresholds for swift heavy ions. This finding leads the authors to suggest that electrostatic ion accelerators with terminal voltages of several MV are applicable for the production of ion track membranes up to ≈10–20 µm in thickness. Suitable ions for nanopores in 7.5 µm polyimide films include 42 MeV 59Co and 48 MeV 197Au. The growth mechanism for the pores during etching is discussed, relating it to the properties of the original ion track.
Quantifying U‐Net uncertainty in multi‐parametric MRI‐based glioma segmentation by spherical image projection
Authors: Yang Zhenyu , Lafata Kyle , Vaios Eugene , Hu Zongsheng , Mullikin Trey , Yin Fang‐Fang , Wang Chunhao 
Published: September 2023

AbstractBackgroundUncertainty quantification in deep learning is an important research topic. For medical image segmentation, the uncertainty measurements are usually reported as the likelihood that each pixel belongs to the predicted segmentation region. In potential clinical applications, the uncertainty result reflects the algorithm's robustness and supports the confidence and trust of the segmentation result when the ground‐truth result is absent. For commonly studied deep learning models, novel methods for quantifying segmentation uncertainty are in demand.PurposeTo develop a U‐Net segmentation uncertainty quantification method based on spherical image projection of multi‐parametric MRI (MP‐MRI) in glioma segmentation.MethodsThe projection of planar MRI data onto a spherical surface is equivalent to a nonlinear image transformation that retains global anatomical information. By incorporating this image transformation process in our proposed spherical projection‐based U‐Net (SPU‐Net) segmentation model design, multiple independent segmentation predictions can be obtained from a single MRI. The final segmentation is the average of all available results, and the variation can be visualized as a pixel‐wise uncertainty map. An uncertainty score was introduced to evaluate and compare the performance of uncertainty measurements.The proposed SPU‐Net model was implemented on the basis of 369 glioma patients with MP‐MRI scans (T1, T1‐Ce, T2, and FLAIR). Three SPU‐Net models were trained to segment enhancing tumor (ET), tumor core (TC), and whole tumor (WT), respectively. The SPU‐Net model was compared with (1) the classic U‐Net model with test‐time augmentation (TTA) and (2) linear scaling‐based U‐Net (LSU‐Net) segmentation models in terms of both segmentation accuracy (Dice coefficient, sensitivity, specificity, and accuracy) and segmentation uncertainty (uncertainty map and uncertainty score).ResultsThe developed SPU‐Net model successfully achieved low uncertainty for correct segmentation predictions (e.g., tumor interior or healthy tissue interior) and high uncertainty for incorrect results (e.g., tumor boundaries). This model could allow the identification of missed tumor targets or segmentation errors in U‐Net. Quantitatively, the SPU‐Net model achieved the highest uncertainty scores for three segmentation targets (ET/TC/WT): 0.826/0.848/0.936, compared to 0.784/0.643/0.872 using the U‐Net with TTA and 0.743/0.702/0.876 with the LSU‐Net (scaling factor = 2). The SPU‐Net also achieved statistically significantly higher Dice coefficients, underscoring the improved segmentation accuracy.ConclusionThe SPU‐Net model offers a powerful tool to quantify glioma segmentation uncertainty while improving segmentation accuracy. The proposed method can be generalized to other medical image‐related deep‐learning applications for uncertainty evaluation.