bluuebunny/crossref_metadata_2025_split huggingface dataset:
Wavelet transform analysis reveals differences between patients with impaired left ventricular systolic function and healthy individuals
Authors: Gruszecki Marcin , Kaufmann Damian , Świątczak Michał , Młodziński Krzysztof , Neary J. Patrick , Singh Jyotpal , Rumiński Jacek , Daniłowicz-Szymanowicz Ludmiła 
Published: September 2023

AbstractBackgroundDespite continuous progress in medical treatment, heart failure (HF) is the leading cause of hospitalizations with a high all-cause mortality in patients. Patients with a left ventricular ejection fraction (LVEF) below 50% are characterized by the highest risk of cardiovascular complications. The objective of this study was to examine how LVEF below 50% and aging impact cardiovascular physiology.MethodsSixteen males with physician diagnosed coronary artery disease and LVEF = 42 ± 6% (age 62 ± 6 years, BMI 29.1 ± 3.8kg/m2) and 10 healthy controls (9 male and 1 female, age 28.5 ± 9.1 years, BMI = 24.1 ± 1.2kg/m2) were recruited in our study. Finger photoplethysmography for blood pressure (BP) and electrocardiogram (ECG) were recorded while participants rested in a supine position. Wavelet transformations were used to analyze the amplitudes, phase coherence and phase difference of BP and ECG. The frequency intervals were separated as follows: I (0.6-2Hz), II (0.145– 0.6Hz), III (0.052–0.145Hz), and IV (0.021–0.052Hz).ResultsHF patients showed a decrease (p<0.05) in BP wavelet amplitude intervals III and IV in comparison to controls, and interval I for ECG. A decrease in phase coherence (p<0.01) at interval I is also found in HF patients compared to controls.ConclusionsA decrease in smooth muscle cell activity and smooth muscle autonomic innervation (intervals III and IV) contributions to BP, along with a decrease in cardiac activity as shown by the wavelet amplitude in ECG, suggests altered BP and ECG function in aging HF patients. Furthermore, a decrease in the cardiac interval represents an impairment in the BP and ECG relationship in HF patients. The wavelet transform has the potential to expand our understanding of LVEF and improve diagnostic procedures and patient prognosis.
Incorporating Nanopore Sequencing into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti
Authors: Ahting Simone , Popp Denny , Oppermann Henry , Strehlow Vincent , Fasshauer Maria , Popp Bernt , Karnstedt Maike , Schumann Isabell 
Published: September 2023

AbstractBackgroundIncontinentia pigmenti (IP) is a rare, hereditary multisystemic disorder affecting 1.2 in 100,000 live births, predominantly females. Conventional genetic analyses through short-read sequencing are complicated in case of IP due to the presence of a highly homologous pseudogene. Traditionally, long-range PCR is employed in order to overcome this challenge, however, detection of skewed X-Inactivation can also aid in correctly assign a variant toIKBKG.MethodsWe employed a comprehensive multi-method approach, incorporating whole-exome sequencing (WES), long-range PCR, RT-PCR, X-inactivation analysis, and nanopore sequencing of genomic DNA, to identify and accurately phase a small heterozygous deletion NM_001099857.5:c.363_367del, p.(Leu122Glyfs*14) to theIKBKGgene in a family affected with IP.ResultsThe deletion was initially detected through WES and skewed X-inactivation was observed in both the proband and her mother. Long-range PCR specific toIKBKGwas utilized to verify that the variant is located inIKBKGand not in its highly homologous pseudogene. On RNA level, the variant was undetectable, suggesting nonsense-mediated decay (NMD) of the transcript containing the variant. We further utilized nanopore sequencing not only to pinpoint and accurately map the variant to theIKBKGgene but also to analyze methylation status of both alleles. This allowed us to confirm the skewed X-inactivation, with the variant-carrying allele found to be predominantly inactivated.ConclusionNanopore sequencing serves as a valuable tool in genetic diagnosis, enabling the precise localization of the variant in either the gene or the pseudogene. Furthermore, in females with skewed X-inactivation, this method facilitates the determination of whether the variant is predominantly located on the activated or inactivated X-chromosome.
Detection of TRAF1‐ALK fusion in skin lesions of systemic ALK+ anaplastic large cell lymphoma initially involving the skin and the draining lymph node
Authors: Norimatsu Yuta , Akatsuka Taro , Matsuoka Akari , Hamada Toshihisa , Mori Ichiro , Shiomi Takayuki , Mori Naoki , Onishi Kayoko , Togashi Yuki , Inoue Norihito , Takeuchi Kengo , Sugaya Makoto 
Published: September 2023

AbstractA case of cytoplasmic anaplastic lymphoma kinase (ALK)‐positive anaplastic large cell lymphoma (ALCL) initially involving the skin in a 44‐year‐old Japanese female is reported. The patient had a hemorrhagic erythematous tumor on the right thigh without any systemic symptoms. Pathology showed diffuse infiltration of CD30‐positive anaplastic large cells positive for epithelial membrane antigen and cytoplasmic ALK. The right inguinal lymph node showed infiltration of tumor cells in the marginal sinus. Only 2 weeks after radiation therapy, the patient developed multiple subcutaneous nodules and lung involvement. Even after subsequent multichemotherapy sessions, cutaneous recurrence occurred. Literature review of cytoplasmic ALK‐positive ALCL initially involving in the skin revealed that skin lesions were mostly seen in the extremities and that half of the cases developed extracutaneous lesions. Radiation and chemotherapy were effective for most cases. Inverse RT‐PCR identified a tumor necrosis factor receptor‐associated factor (TRAF)1‐ALK fusion in our case. Most reported cases with this translocation experienced repeated changes in chemotherapy, suggesting poorer prognosis. Although ALK‐positive ALCL generally responds well to chemotherapy, the presence of a TRAF1‐ALK fusion may suggest resistance to treatment. Detection of fusion partners of ALK is important for predicting clinical courses and deciding treatment options.
A diagnosis of the primary difference betweenEuroForMixandSTRmix™
Authors: Buckleton John , Susik Mateusz , Curran James M. , Cheng Kevin , Taylor Duncan , Bright Jo‐Anne , Kelly Hannah , Wivell Richard 
Published: September 2023

AbstractThere is interest in comparing the output, principally the likelihood ratio, from the two probabilistic genotyping software EuroForMix (EFM) and STRmix™. Many of these comparison studies are descriptive and make little or no effort to diagnose the cause of difference. There are fundamental differences between EFM and STRmix™ that are causative of the largest set of likelihood ratio differences. This set of differences is for false donors where there are many instances ofLRs just above or below 1 for EFM that give much lowerLRs in STRmix™. This is caused by the separate estimation of parameters such as allele height variance and mixture proportion using MLE underHpandHafor EFM. This can result in very different estimations of these parameters underHpandHa. It results in a departure from calibration for EFM in the region ofLRs just above and below 1.
Evaluation of facial nerve perineural spread from cutaneous squamous cell carcinoma using 3T MR neurography
Authors: Schachtel Michael JC , Panizza Benedict J , Gandhi Mitesh 
Published: September 2023

AbstractIntroductionPerineural spread (PNS) is a rare but potentially fatal consequence of cutaneous squamous cell carcinoma (cSCC) of the head and neck. We aimed to evaluate the accuracy of 3T MR neurography in detecting and defining the extent of facial nerve (VII) PNS from cSCC, and highlight characteristic radiological features in peripheral branches to improve early diagnosis.MethodsSingle‐institution retrospective review of 38 patients with clinical, radiological, and/or histopathological findings consistent with VII PNS from cSCC who underwent pre‐operative 3T MR neurography.ResultsCompared to histopathology (gold standard), 3T MR neurography had a sensitivity of 89% and positive predictive value of 97%. In true‐positive cases (n = 33), zonal extent was correctly identified in 100%. Seventy‐nine% had simultaneous trigeminal nerve (V) PNS, mostly involving the auriculotemporal branch of the mandibular nerve (64%). When the causative lesion was absent (n = 23), the extra‐temporal VII demonstrated asymmetrical enhancement alone (n = 6), bulky expansion (n = 8), or extra‐neural spread (n = 9). Peripheral VII branch involvement, particularly the buccal and zygomatic, was readily identified using known anatomical landmarks.Conclusion3T MR neurography is highly accurate in evaluating VII PNS from cSCC, and thus should be specifically requested by physicians if suspicious for disease. Coexistent V PNS was common, highlighting the need to examine V branches to allow complete treatment planning. The unique radiological patterns identified showcases disease progression. As early detection improves patient outcomes, the radiologist must look for peripheral VII involvement in specific anatomical areas, which is within the capabilities of 3T MR neurography.
The Necessity of Moving Averages in Dynamic Linear Regression Models
Authors: Vande Kamp Garrett N. , Jordan Soren 
Published: September 2023

AbstractConsensus from the debate over lagged dependent variables in dynamic linear regression models advises that including enough lags of the dependent and independent variables will fully model autocorrelation in the error term. But this approach fails to account for a long‐neglected source of autocorrelation in the error term—moving averages—which cannot be represented with a finite number of lags. Approximating moving averages results in either inconsistent or inefficient estimates of relevant quantities of interest, a claim demonstrated here via Monte Carlo simulations and three empirical demonstrations. Ultimately, we argue that moving averages should be a standard part of dynamic analysis and offer guidance for incorporating them into various modeling strategies.
When a synonymous mutation breaks the silence in a thalassaemia patient
Authors: Gorivale M. , Sawant P. , Kargutkar N. , Hariharan P. , Thaker P. , Chiddarwar A. , Nadkarni A. 
Published: September 2023

SummarySynonymous mutations were considered to lack functional roles in human diseases; however, distinguishing deleterious synonymous mutations from benign ones is still a challenge. In this article, we identified a deleterious synonymous mutation β‐codon 16 (C>T). HBB: c.51C>T, in compound heterozygous form with known β‐thalassaemia mutation patients who clinically presented as non‐transfusion‐dependent thalassaemia (NTDT). A total of 9 families with 11 compound heterozygous index cases were reported. In the heterozygous state, codon 16 (C>T) mutation results in borderline HbA2 (3.18 ± 0.36%) and slightly reduced RBC indices (RBCs: 4.73 ± 0.75 × 106/μL, Hb: 12.26 ± 2.60 g/dL, MCV: 79.48 ± 8.40 fL, MCH: 25.95 ± 4.15 pg). The compound heterozygous patients showed elevated HbA2 (5.98 ± 1.17%) and HbF (12.75 ± 7.51%) and presented clinically as NTDT with a mean Hb of 6.95 ± 1.29 g/dL. Many of them were dependent on few transfusions and had mild splenomegaly. Of the 11 patients, 5 (45.4%) were treated with hydroxyurea. This study highlights the clinical significance of synonymous mutation, when inherited with other β‐thalassaemia mutations leading to the phenotype of NTDT. Thus, the study would help to improve screening protocols for β‐thalassaemia carriers, which will ultimately improve the prevention programme.
Multi‐phasic eGFR trajectory during follow up and long‐term graft failure after kidney transplantation
Authors: Rahamimov Ruth , Agur Timna , Zingerman Boris , Bielopolski Dana , Steinmetz Tali , Nesher Eviatar , Hanniel Iddo , Rozen‐Zvi Benaya 
Published: September 2023

AbstractBackgroundThe prevailing assumption is that following kidney transplantation the pattern of kidney function decline is consistent. Nevertheless, numerous factors leading to graft loss may emerge, altering the trajectory of kidney function. In this study, we aim to assess alterations in estimated glomerular filtration rate (eGFR) trajectory over an extended period of follow‐up and examine its correlation with graft survival.MethodsWe calculated eGFR using all creatinine values available from 1‐year post transplantation to the end of follow‐up. For pattern analysis, we used a piecewise linear model.ResultsNine hundred eighty‐eight patients were included in the study. After a median follow‐up of 5.2 years, 297 (30.1%) patients had a multi‐phasic eGFR trajectory. Change in eGFR trajectory was associated with increased risk for graft failure (HR 7.15, 95% CI 5.17–9.89, p < .001), longer follow‐up time, younger age, longer cold ischemia time, high prevalence of acute rejection, longer hospitalization and a lower initial eGFR. Of the 988 patients included in the study, 494 (50.0%) had a mono‐phasic stable trajectory, 197 (19.9%) had a mono‐phasic decreasing trajectory, 184 (18.6%) had bi‐phasic decreasing trajectory (initial stability and then decline, 46(4.7%) had a bi‐phasic stabilized (initial decline and then stabilization) and 67(6.8%) had a more complex trajectory (tri‐phasic). Out of the total 144 patients who experienced graft loss, the predominant pattern was a bi‐phasic decline characterized by a bi‐linear trajectory (66 events, 45.8%).ConclusionsChanges in eGFR trajectory during long‐term follow‐up can serve as a valuable tool for assessing the underlying mechanisms contributing to graft loss.
Sodium‐glucose co‐transporter 2 inhibitors & glucagon‐like peptide‐1 receptor agonists, efficacy & safety in diabetic kidney transplant recipients
Authors: Mahmoud Tarek , Yagan Jude , Hasan Amal , Gheith Osama A , Mostafa Mohamed , Rida Suzann , El‐Serwi Nabil , Shaker Mohamad , Khalid Mahmoud 
Published: September 2023

AbstractIntroductionCardiovascular and renal complications define the outcomes of diabetic kidney transplant recipients (KTRs). The new diabetes medications have changed the management of diabetes. However, transplant physicians are still reluctant to use sodium–glucose cotransporter 2 inhibitors (SGLT2i) and Glucagon‐like peptide‐1 receptor agonists (GLP‐1RA) post kidney transplantation due to fear of drug related complications and lack of established guidelines.Patients and methodsWe collected 1‐year follow‐up data from records of 98 diabetic KTRs on SGLT2I, 41 on GLP‐ 1RA and 70 on standard‐of‐care medicines. Patients were more than 3 months post‐transplant with a minimum estimated glomerular filtration rate (eGFR) of 25 ml/min/1.73 m2. Demographic data were similar except for a slightly lower HbA1c in the control group and higher albuminuria in SGLT2i group.ResultsHbA1c dropped significantly by .4% in both SGLT2i and GLP‐1RA compared to .05% in the control group. A significant decrease in BMI by .32 in SGLT2i and .34 in GLP‐1RA was observed compared to an increase by .015 in control group. A tendency for better eGFR in study groups was observed but was non‐significant except for the SGLT2i group with an eGFR above 90 (p = .0135). The usual dip in eGFR was observed in the SGLT2i group at 1–3 months. Albuminuria was significantly reduced in both study groups. Adverse events were minimal with comparable safety in all groups.ConclusionThe use of SGLT2i and GLP‐1RA appears to be effective and safe in diabetic KTRs with good outcomes. Randomized control trials are required to confirm these findings and establish guidelines.
Facilitation of benthic assemblages by Bluehead Chubs: Testing the stress‐gradient hypothesis in streams
Authors: Evelyn Isabel G. , Morse John C. , Peoples Brandon K. 
Published: September 2023

AbstractEcosystem engineers facilitate beneficiary species by ameliorating physical habitat. The stress‐gradient hypothesis (SGH) predicts the importance of facilitation in communities should increase with physical stress but has rarely been tested in freshwater. Bluehead Chubs (Nocomis leptocephalus) build gravel nests for spawning, which can reduce negative effects of sedimentation for lithophilic species including invertebrates and other taxa. Our goal was to test the SGH using chubs and benthic assemblages as a model system. We surveyed assemblages in chub nests, paired unmodified substrate and reach‐wide samples in 10 Piedmont streams in South Carolina, USA, placed across a gradient of sedimentation. Based on the SGH, we predicted benthic assemblage diversity in chub nests would show no relationship to increasing embeddedness but that diversity in unmodified substrate should decrease with embeddedness. We found that taxa counts, richness and Shannon diversity were higher in chub nests than unmodified substrate but were lower than reach‐wide samples. Canonical correspondence analyses indicated benthic assemblages differed between nests and unmodified substrate, but assemblages in both microhabitats were nested subsets of the more diverse reach‐wide assemblage. Contrary to our hypotheses, diversity in both microhabitats decreased significantly with substrate embeddedness but was consistently higher in nests. While substrate modification by chubs clearly facilitated benthic diversity at the microhabitat scale, it was not sufficient to overcome the worst effects of sedimentation. This study provides mixed evidence for SGH in streams; chub nesting appears to be facilitative at the microhabitat scale but may not have reach‐wide effects on benthic assemblages in this system.
Diets of invasive channel catfish are subsidized by invasive riparian trees
Authors: Cheek Christopher A. , Peoples Brandon K. , Goforth Reuben R. 
Published: September 2023

AbstractRussian olive (Elaeagnus angustifolia) is an invasive, fruit‐bearing riparian tree that dominates riparian zones of the San Juan River in the southwestern United States. Previous research in this river suggests olive fruit is common in diets of invasive channel catfish (Ictalurus punctatus), but its energetic importance is unknown (i.e. critical for catfish fitness vs. incidental consumption). We assessed Russian olive consumption in channel catfish diets bimonthly for 1 year, hypothesizing that olive consumption would be greatest during periods of high olive availability and low benthic aquatic invertebrate availability. We found that catfish consumed olive fruit throughout the year and that olive comprised up to 44% of total stomach contents by mass, with peaks in spring and fall. Regression models revealed the presence and mass of olive fruit in catfish stomachs were positively associated with catfish total length, with a significant interaction between water temperature and river discharge. Catfish were more likely to consume olive fruit during higher flows, regardless of temperature and at low discharge with higher temperature. Contrary to our hypothesis, neither olive nor benthic invertebrate availability were associated with olive presence in channel catfish diets. Nutrition analysis indicated that olive alone was a low‐quality diet item but has the potential to provide a reliable energy source. We used seasonal data to estimate the energetic contribution of olive fruit to catfish populations using a bioenergetic model, which estimated that olive fruit accounted for 35.6% of energy (Joules) consumed by catfish populations and satisfied 38% of their metabolic demand. Our results suggest that Russian olive fruit is a significant subsidy to channel catfish in the San Juan River. However, more research is needed to determine the indirect effects of this interaction on native fishes and ecosystem function.
Increase of ISG15 in psoriasis lesions and its promotion of keratinocyte proliferation via the Hif‐1α signalling pathway
Authors: Sun Xianqi , Li Yuzhen 
Published: September 2023

AbstractPsoriasis is a frequent chronic, recurrent and immune‐mediated inflammatory skin disease, whose pathogenesis remains unclear at present. The role of antiviral protein in the pathogenesis of psoriasis is the focus of current research. Interferon stimulated gene 15 (ISG15) is an important antiviral protein. In this study, the expression of ISG15 saw a significant increase through the immunohistochemical detection of imiquimod (IMQ)‐induced mice. In the psoriasis cell model, a remarkable increase also occurred in the expression of ISG15. In this study, it was found that the cell cycle was blocked in G1/S conversion, and a reduction took place in the proliferation of keratinocytes and the expression of a cell cycle‐related protein—cyclin D1 after the knockout of ISG15 in the psoriasis cell model. After that, messenger ribonucleic acid (mRNA) sequencing and Gene Ontology/Kyoto Encyclopedia of Genes and Genomes (GO/KEGG) analysis indicated its close association with the hypoxia inducible factor‐1α (HIF‐1α) signalling pathway. Western blot showed a decrease in the expression of HIF‐1α and vascular endothelial growth factor C (VEGFC) after the knockout of the ISG15 gene. The rescue experiment verified that ISG15 promotes the proliferation of keratinocytes by regulating the HIF‐1α signalling pathway. It was concluded that psoriasis cells and mouse models witnessed the increased expression of ISG15. In psoriasis, knocking out ISG15 inhibits the proliferation of keratinocytes and blocks the cell cycle. Besides, ISG15 promotes the proliferation of keratinocytes through the HIF‐1α signalling pathway.
Health topics emerged from brief‐motivational interviewing: A randomized clinical trial
Authors: Arnett Michelle C. , Paulson Danna R. , Evans Michael D. , Blue Christine M. , Reibel Yvette G. 
Published: September 2023

AbstractObjectiveThe goal of this study was to analyse transcription of audio recordings to determine health topics that emerged from brief‐motivational interviewing (MI) compared to traditional oral hygiene instructions (OHI).MethodsFifty‐eight periodontal maintenance patients were randomized to a brief‐MI or traditional OHI group for a longitudinal 1‐year clinical trial. Both groups received four patient education sessions per their assigned group. Audio recordings were transcribed and coded. The overarching themes and subthemes emerged were quantified and reported as the number of instances per participant. Global scores and behavioural counts were compared across baseline, 4, 8, and 12‐month research visits using mixed‐effect models.ResultsOf the six overarching themes, the brief‐MI group evoked more topics toward total health. Oral home care behaviours (15 vs. 10.2) and oral diseases/conditions (3.3 vs. 1.9) were discussed more in the brief‐MI group compared to the traditional OHI group. This positive outcome for the average number of times a health topic was discussed in the brief‐MI group compared to the traditional OHI group continued for the remaining major themes: lifestyle behaviours (1.0 vs. 0.4), nutrition (2.6 vs. 0.8), emotional/mental health (1.8 vs. 0.8) and general health (1.2 vs. 0.4).ConclusionThis study identified that brief‐MI was a more successful communication approach to increase discussions of oral home care behaviours, oral diseases/conditions, lifestyle behaviours, nutrition, emotional/mental health and general health compared to traditional OHI in individuals with periodontitis.