bluuebunny/crossref_metadata_2025 huggingface dataset:
Genetic profiling of Wilson disease reveals a potential recurrent pathogenic variant of ATP7B in the Jordanian population
Authors: Khdair Ahmad Fareed , Aburizeg Dunia , Rayyan Yaser , Tamimi Tarek A. , Burayzat Salma , Ghanma Abdullah , Barbar Maha , Azab Bilal
Published: January 2025

Objectives

Wilson disease (WD) is an autosomal‐recessive disorder that disrupts copper homeostasis. ATPase copper transporting beta (ATP7B) gene is implicated as the disease‐causing gene in WD. The common symptoms associated with WD include hepatic, neurological, psychiatric, and ophthalmic manifestations. The genetic landscape of WD is under‐investigated in the Middle East and has never been studied in Jordan. We aimed to investigate the genetic profile of several unrelated Jordanian families with one or more patients affected by WD.

Methods

Twenty‐four Jordanian families with WD underwent clinical evaluation and genetic profiling by whole‐exome and Sanger sequencing.

Results

Surprisingly, the same variant (ATP7B:c.3551C>T;p.Ile1184Thr) was identified, for the first time, exclusively in the homozygous state, in eight consanguineous unrelated families. Before our study, the previous classification of this variant was either of uncertain significance (VUS) or likely pathogenic (LP). Interestingly, the patients harboring this variant displayed variable clinical manifestations on both the intra‐ and interfamilial levels, as previously described in cases with WD. The age of diagnosis, hepatic manifestations, neuropsychiatric involvements, and Kayser–Fleischer ring occurrence varied significantly in terms of existence and severity among the recruited individuals. Following our investigation, based on clinical data and co‐segregation analysis, we re‐classified the variant ATP7B:c.3551C>T;p.Ile1184Thr from VUS/LP to pathogenic, for the first time. Besides, our genetic analysis helped in resolving diagnostic ambiguity by either establishing or ruling out the diagnosis of WD.

Conclusion

Since the identified variant (ATP7B:p.Ile1184Thr) was discovered in multiple unrelated families, we create an avenue for the potential consideration of this variant as a recurrent, or possibly a founder variant, in the Jordanian population. Our work sheds light, for the first time, on the molecular underpinnings of WD in Jordan and compiles the WD‐causing variants in the Middle East. Ultimately, the findings of our work can guide designing region‐specific targeted genetic testing of WD in Jordan and provide valuable insights to direct clinical decisions for atypical WD presentations.
Daily associations among sleep, posttraumatic stress disorder, and positive affect
Authors: McGhie Shaan F. , Hamlett Gabriella E. , Meier Marieke , Mair Patrick , McNally Richard J.
Published: January 2025

Research suggests a bidirectional association between sleep disturbances and posttraumatic stress disorder (PTSD) symptoms. However, most studies have been conducted with group‐level data, which do not necessarily capture the associations between PTSD symptoms and sleep within an individual over time. This study aimed to add to the literature concerning the association between sleep and PTSD and extend these findings to investigate the effect of sleep disturbances on positive affect. Ecological momentary assessment (EMA) was used to examine the daily temporal dynamics of sleep disturbances (i.e., self‐reported difficulty initiating and maintaining sleep, disturbing dreams) and PTSD symptoms over 14 days in a sample of 41 trauma‐exposed individuals. Multilevel models were employed to disambiguate within‐person effects (i.e., intraindividual variability) from between‐person effects (i.e., interindividual variability). Difficulty sleeping predicted increased PTSD symptoms at both the within‐person, β = .11, and between‐person levels, β = .38, as did disturbing dreams, within: β = .14, between: β = .31. Participants with higher PTSD symptom levels were likely to report increased difficulty sleeping at night, β = .40. Positive affect was unrelated to sleep at the within‐person level but increased average sleep difficulty predicted lower positive affect at the between‐person level. The findings indicate that sleep difficulties must be considerably more substantial than usual to affect PTSD symptoms in a noticeable way.
Neuromuscular junction visualization in paraffin‐embedded thyroarytenoid muscle sections: Expanding options beyond frozen section analysis
Authors: Kaefer Samuel L. , Shay Elizabeth O. , Morrison Rachel A. , Zhang Lujuan , Voytik‐Harbin Sherry , Halum Stacey
Published: January 2025

Objective(s)

The current gold standard for immunofluorescent (IF) visualization of neuromuscular junctions (NMJs) in muscle utilizes frozen tissue sections with fluorescent conjugated antibodies to demarcate neurons and IF alpha‐bungarotoxin (α‐BTX) to demarcate motor endplates. Frozen tissue sectioning comes with inherent inescapable limitations, including cryosectioning artifact and limited sample shelf‐life. However, a parallel approach to identify NMJs in paraffin‐embedded tissue sections has not been previously described.

Methods

Yucatan minipig thyroarytenoid (TA) muscle was harvested and prepared as 5‐μm thick paraffin‐embedded tissue sections. A variety of antibodies at various concentrations were selected to target nicotinic acetylcholine receptors, synaptic vesicles, and neurons.

Results

Neurofilament (NEFL, Invitrogen, 1:500) and synaptic vesicle glycoprotein (SV2, DSHB, 1:230) bound and demarcated the neurons and synaptic vesicles, respectively. Following consistent visualization of nerve tissue, rabbit anti‐nicotinic acetylcholine receptor alpha‐1 subunit (CHRNα1, Abcam, 1:500) was used to identify the acetylcholine receptors within motor endplates. Complete NMJ visualization was then achieved with an optimized protocol using primary antibodies to the neurofilament light chain, nerve synaptic vesicle glycoprotein 2, and the alpha 1 subunit of the nicotinic acetylcholine receptor. Slide imaging was performed with the Echo Revolve Microscope (40×).

Conclusions

Herein, we describe a new methodology to visualize NMJs within paraffin‐embedded TA muscle sections. Our protocol avoids the known limitations associated with cryosectioned samples and introduces a new neurolaryngologic research tool that utilizes the advantageous ability of paraffin‐embedded sectioning to preserve tissue morphology. In conjunction with standard cryosectioned methods, the described paraffin‐embedded protocol serves to enhance histological analysis of NMJs.

Level of evidence

NA.
Short‐process incudo‐stapedioplasty in congenital ear malformation
Authors: Omichi Ryotaro , Kariya Shin , Sugaya Akiko , Ando Mizuo
Published: January 2025

Objectives

Although various stapedotomy and stapedectomy techniques exist, anchoring the piston can be challenging. We present a novel surgical approach for treating congenital stapes malformations with an atypical facial nerve trajectory.

Methods

This is a case of a 7‐year‐old boy presenting with bilateral conductive hearing loss. Prior attempts at tympanoplasty had proven unsuccessful in improving his hearing. Presurgical imaging studies revealed an unusual anatomical configuration, with the facial nerve positioned inferior to the oval window. This anatomical variation precluded the use of conventional prosthesis‐anchoring techniques typically employed in stapedotomies. Thus, we devised an innovative approach, opting to anchor the prosthesis to the short process of the incus.

Results

This novel technique circumvented the atypical course of the facial nerve, allowing for successful reconstruction of the ossicular chain. The patient demonstrated an acceptable improvement (30 dB gain) in hearing 1‐year post‐surgery, with no reported complications.

Conclusion

This case underscores the critical importance of adapting surgical techniques to address the unique anatomical challenges that may arise in the context of congenital ear malformations. It also highlights the potential of the short process of the incus as a viable alternative anchoring site for stapes prostheses, thereby improving the outcomes of such complex cases. This technique not only restored the patient's hearing but also contributed valuable insights into the management of similar cases, potentially improving the quality of life for individuals with rare and challenging anatomical variations.

Level of evidence

5.
Quantifying capacity of otolaryngology‐head and neck surgery in Zimbabwe
Authors: Green Katerina J. , Eyassu Daniel G. , Jain Amiti , Arya Priya , Candelo Estephania , Douse Dontre' M. , Matinhira Naboth N. , Chidziva Clemence , Wiedermann Joshua P.
Published: January 2025

Objective(s)

To evaluate the otolaryngology surgical capacity in Harare, Zimbabwe by analyzing procedural volumes across four hospitals, one private and three public, from 2019 to 2022.

Methods

A retrospective review of hand‐written surgical case logs was conducted at Harare Eye, Ear, Nose, and Throat Institute (HEENT), Parirenyatwa Group of Hospitals (PGH), Sally Mugabe Children's Hospital (SMCH), and Sally Mugabe Adult's Hospital (SMAH). Patient age and surgical intervention for all otolaryngology surgeries performed in the operating room from 2019 to 2022 were recorded. Procedures were categorized into six groups: head and neck malignancy, laryngeal surgery, oropharyngeal surgery, otologic surgery, rhinology/sinus surgery, and other. Data were analyzed using descriptive statistics to identify trends in surgical volume and types of procedures across hospitals.

Results

A total of 2626 procedures were recorded: 1470 at HEENT, 377 at PGH, 625 at SMCH, and 154 at SMAH. Of these, 39.5% were performed on pediatric patients and 60.5% on adult patients. The most common procedures were adenotonsillectomy/adenoidectomy/tonsillectomy (38.9%), diagnostic endoscopies (10.4%), and endoscopic sinus surgery (8.3%). HEENT performed the highest volume and widest range of procedures. HEENT had higher surgical volumes across all groups of procedure, except for laryngeal surgery.

Conclusion

This study found disparities in otolaryngology surgical capacity between a private hospital, HEENT, and three public tertiary hospitals—SMCH, SMAH, and PGH, the largest hospital in the country—in Harare, Zimbabwe. Additionally, it highlights areas for targeted interventions in capacity building. This study establishes a foundation for understanding otolaryngologic surgical capacity in the country, supporting international collaboration, guiding future research, and serving as a model for similar assessments in other LMICs.

Level of evidence

Level VI.
MFSD2A Overexpression Inhibits Hepatocellular Carcinoma Through TGF‐β/Smad Signaling
Authors: Xiao Chaowen , Zhao Xinyang , Hu Zouxiao , Long Guanbao
Published: January 2025

Hepatocellular carcinoma (HCC) is a common primary malignancy of the liver and has a high mortality. Major facilitator superfamily domain containing 2 (MFSD2A) was previously demonstrated to inhibit tumor progression in several cancers. Here, we elucidated the association between MFSD2A expression and HCC progression and also investigated the underlying mechanism. The online tools were utilized to evaluate MFSD2A expression in HCC samples and predict the prognostic significance of MFSD2A in HCC patients. The biological role of MFSD2A in HCC cellular processes was examined by colony formation, wound healing, transwell, and western blotting. The in vivo role of MFSD2A in HCC was investigated in a xenograft tumor model. The miRNAs and RNA‐binding proteins potentially targeting MFSD2A were identified using bioinformatics prediction tools. Luciferase reporter, RNA immunoprecipitation, actinomycin D, and immunofluorescence assays were performed to investigate the molecule mechanisms of MFSD2A. Transforming growth factor (TGF)‐β1/Small mothers against decapentaplegic (Smad) signaling was detected using western blot analysis. We found that MFSD2A expression was significantly downregulated in HCC patients and cells and its downregulation predicted a poor prognosis. MFSD2A overexpression repressed HCC cell proliferation, migration, invasion, the epithelial‐to‐mesenchymal transition in vitro, as well as inhibited HCC tumor growth in vivo. MFSD2A was targeted by miR‐3189‐3p. High‐density lipoprotein binding protein (HDLBP) inhibited MFSD2A expression by binding to and destabilizing MFSD2A mRNA. MFSD2A significantly suppressed activation of TGF‐β/Smad signaling in HCC cells. Knockdown of MFSD2A abrogated the inhibitory effect of miR‐3189‐3p inhibitor on HCC cellular processes, and overexpression of MFSD2A reversed the tumor‐promoting effect of HDLBP overexpression. Overall, MFSD2A exerts a tumor‐inhibiting effect in HCC via suppression of TGF‐β/Smad signaling, suggesting that MFSD2A may be a promising target for HCC therapy.
Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3
Authors: Zheng Haixia , Cheng Chongsheng , He Miao , Zhou Wangji , Li Yixuan , Dai Jinrong , Zhang Ting , Xu Kai‐Feng , Zhang Xue , Tian Xinlun , Liu Yaping
Published: January 2025

Background

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia. While approximately 50 genes have been identified, around 25% of PCD patients remain genetically unexplained; elucidating the pathogenicity of specific variants remains a challenge.

Methods

Whole exome sequencing (WES) and Sanger sequencing were conducted to identify potential pathogenic variants of PCD. Minigene assays were performed to evaluate the pathogenicity of variants. Transmission electron microscopy (TEM) and high‐speed video analysis (HSVA) were conducted to analyze the function of cilia in respiratory epithelial cells.

Results

We identified two variants of DNAAF3: c.557G>A, p.G186E in exon 5, and c.1364G>A, p.G455D at the terminal nucleotide of exon 10 in a 16‐year‐old male patient. Through a minigene assay, we demonstrated that the c.1364G>A variant led to a four‐nucleotide skipping. The cilia in epithelial ciliary cells of the proband were almost immotile. The absence of outer dynein arms and inner dynein arms was also observed.

Conclusions

Our study identified two compound heterozygous variants of DNAAF3, a pathogenic gene for PCD, and proved that a novel missense variant c.1364G>A affects splicing. Our findings not only expanded the spectrum of mutations in the DNAAF3 gene but also highlighted the importance of investigating variants of uncertain significance (VUS) for comprehensive genetic diagnoses.
Stability of Discontinuous Galerkin Methods for Volterra Integral Equations
Authors: Wen Jiao , Li Min , Guan Hongbo
Published: January 2025

We conduct the stability analysis of discontinuous Galerkin methods applied to Volterra integral equations in this paper. Stability conditions with respect to both the basic and convolution test equations are derived. Our findings indicate that the methods with orders up to 6 exhibit ‐stability when applied with the basic test equation, while demonstrating unbounded stability regions when applied to the convolution test equation. Additionally, the results of ‐stability for the semidiscretized variants (quadrature discontinuous Galerkin methods) and fully discretized versions (fully discretized discontinuous Galerkin methods) with orders 1 and 2 are presented when solving the convolution test equation. To corroborate these theoretical results, we provide some numerical experiments for validation.
Person‐Centredness and Paternalism: The Dance With Power
Authors: Noel Clement , Hebron Clair
Published: January 2025

Objective

The World Health Organization advocates for person‐centredness (PC) as essential for quality care, yet its definitions and interpretations vary widely among professionals. Most qualitative research on PC focuses on physiotherapists in countries such as the UK, Australia, and the US, where PC is explicitly emphasised. In contrast, the term PC is absent in French educational standards, and its promotion is lacking in the French healthcare system. This study explores French physiotherapists' conceptualisation of PC.

Methods

This phenomenographic study followed an interpretivist paradigm. Seven physiotherapists practicing in France were purposively selected. Data were collected through remote semi‐structured interviews, transcribed verbatim, and translated into English. The analysis followed the steps outlined by Larsson and Holmström (2007).

Findings

Three categories were generated to illustrate the conceptualisation of PC by participants: Creating a relationship, Adapting the rehabilitation, and Giving the choice. Despite recognising the importance of these aspects, they also highlighted challenges related to paternalism and power dynamics, which often limited trusting relationships, effective adaptations and true shared decision‐making.

Conclusion

While these physiotherapists expressed a commitment to person‐centred practices, they encountered challenges in relinquishing power, highlighting the ongoing journey towards becoming person centred.
Postoperative Apnea‐Hypopnea Index Prediction of Velopharyngeal Surgery Based on Machine Learning
Authors: You Jingyuan , Li Juan , Zhou Yingqian , Cao Xin , Zhao Chunmei , Zhang Yuhuan , Ye Jingying
Published: January 2025

Objective

To investigate machine learning‐based regression models to predict the postoperative apnea‐hypopnea index (AHI) for evaluating the outcome of velopharyngeal surgery in adult obstructive sleep apnea (OSA) subjects.

Study Design

A single‐center, retrospective, cohort study.

Setting

Sleep medical center.

Methods

All subjects with OSA who underwent velopharyngeal surgery followed for 3 to 6 months were enrolled in this study. Demographic, polysomnographic, and anatomical variables were analyzed. Compared with traditional stepwise linear regression (LR) algorithm, machine learning algorithms including artificial neural network (ANN), support vector regression, K‐nearest neighbor, random forest, and extreme gradient boosting were utilized to establish the regression model. Surgical success was defined as a ≥50% reduction in AHI to a final AHI of <20 events/h.

Results

A total of 152 OSA adult patients (median [interquartile range] age = 40 [35, 48] years, male/female = 136/16) were included in this study. The ANN model achieved the highest performance with a coefficient of determination (R2) of 0.23 ± 0.05, a root mean square error of AHI of 10.71 ± 1.01 events/h, an accuracy for outcomes classification of 81.3% ± 1.2% and an area under the receiver operating characteristic of 74.6% ± 1.9%, whereas for LR model, they were 0.094 ± 0.06, 11.61 ± 0.76 events/h, 71.7% ± 1.5% and 68.8% ± 2.9%, respectively.

Conclusion

The machine learning‐based model exhibited excellent performance for predicting postoperative AHI, which is helpful in guiding patient selections and improving surgery outcomes.
Introduction of organo‐modified carbon nanotubes into fluoropolymer‐based hybrids containing polyrotaxane and cellulose nanofibers as organic fillers and their drawn orientation effects
Authors: Chu Pinjung , Nara Chisato , Rumon Rokibul Hasan , Xu Kai , Fujimori Atsuhiro
Published: January 2025

The effect of drawn orientation on a polymer‐based composite containing two types of functional organic fillers, organo‐modified single‐walled carbon nanotubes (SWCNTs), and a trace amount of dispersant was investigated. To improve the dispersion state of organo‐modified SWCNTs in the presence of organic fillers, we introduced a small amount of fluorinated phosphonic acid in addition to fluorinated phosphonic acid‐modified SWCNTs into a fluorinated polymer matrix. Fluorinated phosphonic acid functioned as a dispersant for organo‐modified SWCNTs in the fluorinated polymer. However, the thermal and mechanical properties of corresponding composites prepared by melt‐compounding did not necessarily improve. When the composite was uniaxially drawn, SWCNT aggregates were observed to be oriented in the direction of the drawing. In addition, the draw‐orienting process improved the thermal and mechanical properties of the composites. Specifically, Young's modulus increased more than seven times when drawn 7 times, reaching 251 MPa. Furthermore, in terms of elongation properties, the strain value reached 78%, nearly four times the original value, when drawn 5 times.

Highlights

Carbon nanotubes were attained to introduce into composite containing organic fillers.

Surface modification of single‐walled carbon nanotubes (SWCNTs) was effective for nanohybridization.

Mechanical properties of the composite containing oriented SWCNTs were improved.

When drawn 7 times, Young's modulus improved by more than 7 times.

When drawn 5 times, the elongation properties improved by about 4 times.
Blazing the Trail of Non‐Invasive Prenatal Screening Expanded Use: Healthcare Providers' Perspectives
Authors: Laforce Tierry M. , Laberge Anne‐Marie , Malo Marie‐Françoise , Ravitsky Vardit
Published: January 2025

Objective

Advancements in non‐invasive prenatal screening (NIPS) could significantly alter prenatal screening by expanding the range of genetic conditions screened. This study aims to explore the perspectives of healthcare professionals (HCP) on the expanded use of NIPS and explore specifications for the inclusion of genetic conditions.

Method

Semi‐structured interviews were conducted with Canadian HCPs who counsel pregnant individuals about NIPS. The findings were organized around the four ethical pillars of Kater‐Kuiper's framework: proportionality (benefits and harms), aim of screening, justice, and societal aspects.

Results

Participants chose to assess the proportionality of NIPS using general terms to describe the additional conditions rather than discussing specific conditions to add. They emphasized the importance of clinical validity as crucial for expanding NIPS and ensuring its utility. Participants believed that the aim of NIPS is to enhance reproductive autonomy, and therefore that screening for late‐onset conditions could create ethical tensions between parents and the prospective children. Participants also worried that expanded use of NIPS could impact the quality of counselling provided by HCPs and affect autonomy. Justice considerations include the allocation of resources in prenatal care instead of other areas of healthcare. Societal aspects highlighted the different definitions HCPs used to describe ‘life‐limiting conditions’ that could severely affect the future child's health.

Conclusion

With expanded use of NIPS, clinical validity will vary for each screened condition. Specificity for each condition will influence the quality of consent. HCP estimates that clinical validity, clinical utility, availability of counselling, availability of resources, and societal impacts should be considered when adding genetic conditions to NIPS.
The incremental validity of level of personality functioning over borderline personality features in associations with early adolescent social reward processing
Authors: Boone Kiran , Babinski Dara , Kujawa Autumn , Pegg Samantha , Sharp Carla
Published: January 2025

More work is needed to establish the validity of the Alternative Model of Personality Disorders (AMPD) in the Diagnostic and Statistical Manual of Mental Disorders (DSM‐5). Acceptance of the AMPD as the primary model of personality disorder requires identifying neurocognitive validators of AMPD‐defined personality functioning and demonstrating superiority of the AMPD over the traditional categorical model of personality disorder. It is also important to establish the utility of the AMPD in a developmental context given evidence that personality disorder emerges in adolescence. We assessed the incremental validity of AMPD‐defined level of personality functioning (LPF) versus borderline personality features (BPF) in explaining alterations in neural processing of social acceptance feedback in early adolescent girls. One hundred nine girls (Mage = 12.21, SD = 1.21; N = 79 with a psychiatric history) completed a computerized peer interaction task to elicit neural response to social acceptance feedback via electroencephalogram (EEG). Subjects or caregivers reported adolescent psychopathology. In hierarchical regressions controlling for neural response to social rejection and internalizing and externalizing symptoms, LPF incremented BPF and all other covariates in predicting response to social acceptance, but BPF did not. Higher LPF impairment was associated with enhanced reactivity to social acceptance (St.b = 0.274, p = 0.018). LPF appears to provide additional information about neural response to social reward in early adolescence beyond that provided by borderline personality features. These findings add to an emerging literature demonstrating the validity and superiority of the AMPD and help build the rationale for moving toward the AMPD as the primary model of personality disorder classification.
Translating Evidence‐Based Self‐Management Interventions Using a Stepped‐Care Approach for Patients With Cancer and Their Caregivers: A Pilot Sequential Multiple Assignment Randomized Trial Design
Authors: Lambert Sylvie , Moodie Erica E. M. , McCusker Jane , Lokhorst Marion , Harris Cheryl , Langmuir Tori , Belzile Eric , Laizner Andrea Maria , Brahim Lydia Ould , Wasserman Sydney , Chehayeb Sarah , Vickers Michael , Duncan Lindsay , Esplen Mary Jane , Maheu Christine , Howell Doris , de Raad Manon
Published: January 2025

Background

Self‐directed interventions are cost‐effective for patients with cancer and their family caregivers, but barriers to use can compromise adherence and efficacy.

Aim

Pilot a Sequential Multiple Assignment Randomized Trial (SMART) to develop a time‐varying dyadic self‐management intervention that follows a stepped‐care approach in providing different types of guidance to optimize the delivery of Coping‐Together, a dyadic self‐directed self‐management intervention.

Methods

48 patients with cancer and their caregivers were randomized in Stage 1 to: (a) Coping‐Together (included a workbook and 6 booklets) or (b) Coping‐Together + lay telephone guidance. At 6 weeks, change in distress level was assessed, and non‐responding dyads were re‐randomized in Stage 2 to (a) continue with their Stage 1 intervention or (b) be stepped‐up. Benchmarks for acceptability, feasibility, and clinical significance (anxiety and quality of life (QOL)) were assessed via surveys and study logs.

Results

Feasibility was supported by a low refusal rate at ≤ 30% and < 10% missing data. Men and women were enrolled in at least a 40:60 ratio for caregivers, but less for patients. Recruitment was slow at 1 dyad/week. Acceptability was supported by a low attrition rate (12.5%) and with 87% of participants finding the booklets helpful. Telephone guidance in Stage 1 increased adherence to Coping‐Together; however, in Stage 1, participants benefited more from the self‐directed format than the guidance. All patients who were stepped‐up in Stage 2 benefited from their new assignment; this trend was less clear for caregivers.

Significance

Findings suggest a 3‐step approach to dyadic self‐management support that warrants further testing.

Trial Registration

Clinical Trials Registration #: NCT04255030.
Parenting Concerns, Psychological Distress, and Relationship Adjustment Among Patients With Cancer and Their Partners: A Longitudinal Study
Authors: Leo Karena , Langer Shelby L. , McDaniel Hannah , Baucom Brian R. W. , Keefe Francis , Ramos Katherine , Lee Daniel J. , Porter Laura S.
Published: January 2025

Objective

Studies have found that cancer patients with dependent children exhibit high symptoms of anxiety, depression, and worry. Patients' parenting concerns can negatively impact their own and their family's adjustment to the cancer experience. However, relatively little is known about parenting concerns of partners of cancer patients, or associations between parenting concerns and couples' relationship adjustment. This longitudinal study investigated parenting concerns among both patients and partners, and their associations with psychological and relationship adjustment.

Methods

One hundred thirty‐four patients with cancer and their partners (67 couples) completed the Parenting Concerns Questionnaire at baseline and measures of psychological distress, communication, and relationship adjustment at four time points (baseline, 4‐, 8‐, and 12‐month follow up).

Results

Baseline parenting concerns did not differ by role, gender, cancer site or cancer stage (p > 0.05). Patients and partners who reported higher levels of parenting concerns at baseline reported significantly greater psychological distress and poorer communication concurrently and at each subsequent assessment. There were no significant associations between parenting concerns and relationship satisfaction either concurrently or over time.

Conclusions

These findings reinforce the need for a dyadic perspective to assessing both patients' and partners' parenting concerns and a focus on processes such as communication as an avenue for managing and processing parenting concerns.
Investigation on Plasma Characteristics and In‐Flight Spheroidization Boron Carbide Powders in Radio Frequency Inductively Coupled Plasma
Authors: Jin Xingyue , Zhao Peng , Li Jun , Li Lin , Hu Liqun , Wu Xi , Su Yi , Geng Chuanwen , Lin Qifu , Zhu Hailong
Published: January 2025

Inductively coupled plasma (ICP) is ideal for powder spheroidization due to its large plasma volume, high purity and high temperature. This study investigates the interaction between plasma and in‐flight particles using optical emission spectroscopy, discharge imaging and DPV evolution diagnostics, focusing on the effects of plasma power and powder feed rate. The results demonstrate that powder injection slightly decreases plasma temperature. As the powder feed rate increases, both the ICP temperature and the spheroidization rate decreases. Under optimal plasma power and powder feed rate conditions, particles achieve higher temperatures and velocities, and the prepared spherical powder exhibits higher sphericity. This research provides valuable reference for optimizing the preparation of high melting point and high purity spherical powders.
Reconsidering the Diagnosis: Abnormal Sweat Chloride Tests in Non‐CF Bronchiectasis
Authors: Huang Reyna L. , Snyder Matthew T. , Fahmida Nuzhat , Albon Dana P.
Published: January 2025

Introduction

While the diagnosis of cystic fibrosis (CF) is often straightforward and reliant on correlation between genetic testing and clinical signs and symptoms, there is a subset where the distinction is not nearly as clearcut. This has previously been reported in patients identified through newborn screening but not meeting full CF diagnostic criteria, earning the label of CF Screen Positive, Inconclusive Diagnosis (CFSPID) instead. A homologous diagnostic category in adults is named CF Transmembrane Conductance Regulator‐Related Disorder (CFTR‐RD).

Methods

Through a retrospective chart review, this study reports on a relatively large adult cohort (n = 23) that presented to pulmonology clinic at a single center with intermediate or positive sweat chloride tests but non‐diagnostic full CFTR gene analysis.

Results

Median sweat chloride result was 48 mmol/L, and a majority of the cohort had chronic lung disease with atypical pathogens on sputum culture, including Pseudomonas aeruginosa, non‐tuberculous Mycobacteria, Acinetobacter species, amongst others.

Conclusions

This clinical picture suggests CFTR dysfunction or similar mechanism in the absence of an identified genetic cause. Alternate chloride channels and their respective genes or candidates of genetic modifiers to the CF‐phenotype could be targets of further research in this cohort or similar patients. Such genetic modifiers include loci that have been implicated in inflammation, the CFTR interactome, and/or co‐/post‐translational modification of CFTR.
Classical Integrability in the Presence of a Cosmological Constant: Analytic and Machine Learning Results
Authors: Lopes Cardoso Gabriel , Mayorga Peña Damián , Nampuri Suresh
Published: January 2025

The integrability of two‐dimensional theories that are obtained by a dimensional reduction of certain four‐dimensional gravitational theories describing the coupling of Maxwell fields and neutral scalar fields to gravity in the presence of a potential for the neutral scalar fields is studied. For a certain solution subspace, partial integrability is demonstrated by showing that a subset of the equations of motion in two dimensions are the compatibility conditions for a linear system. Subsequently, the integrability of these two‐dimensional models is studied from a complementary one‐dimensional point of view, framed in terms of Liouville integrability. In this endeavor, various machine learning techniques are employed to systematize our search for numerical Lax pair matrices for these models, as well as conserved currents expressed as functions of phase space variables.
Chinese Herbal Medicine and Their Active Ingredients Involved in the Treatment of Atopic Dermatitis Related Signaling Pathways
Authors: Nie Wenkai , Fu Hao , Zhang Yan , Yang Huiwen , Liu Bing
Published: January 2025

Atopic dermatitis (AD) is a common inflammatory dermatitis of the skin and poses therapeutic challenges due to the adverse reactions and high costs associated with available treatments. In Eastern Asian countries, a plethora of herbal remedies is extensively employed for the alleviation of AD. Many of these botanicals are renowned for their formidable anti‐inflammatory properties, contributing to AD management. Chinese herbal medicine (CHM) and its active ingredients exhibit both prophylactic and therapeutic promise against AD by modulating inflammatory response, orchestrating immune system functions, and enhancing antioxidant activities. A comprehensive exploration of the underlying mechanisms involved in CHM treatment can enhance the comprehension of AD pathogenesis and facilitate the development of innovative drugs for AD. This study aims to elucidate the signaling pathways and potential targets implicated in CHM‐based treatment of AD, providing a systematic theoretical framework for its application in therapy while serving as a valuable reference for developing more effective and safer AD therapeutic agents.
Elective Thoracic Surgical Resections for Pulmonary Arteriovenous Malformations ‐ A 16 Year Single‐Center Experience
Authors: Al‐Sahaf May , Anderson Jon , Nandi Jayanta , Alsafi Ali , Shovlin Claire L.
Published: January 2025

Pulmonary arteriovenous malformations (PAVMs) cause cerebral abscess and ischemic stroke due to paradoxical emboli, risks that are increasingly recognized. We report the evolving placement of thoracic surgery in multi‐disciplinary team management of PAVMs that were sporadic or associated with hereditary hemorrhagic telangiectasia. From 1983 to 2006, all patients receiving elective treatment had embolization. Between January 2006 and July 2022, 24 of 714 (3%) patients reviewed at our institution underwent elective surgical resection of one or more PAVMs. Initially, the bar for elective surgery had been set very high, and only patients with persistent symptoms of cerebral ischemia after maximal embolization and medical therapy were referred. As PAVM natural history, follow‐up radiation exposures for residual PAVMs, and good surgical outcomes were appreciated, PAVM resection became part of the discussion for highly localized, very complex PAVMs which we consider are best treated surgically. Elective surgical intervention may be considered for other selected patients.
Differences in triggering conditions between embedded and isolated convection initiation during a Meiyu season in China
Authors: Zhang Fan , Li Mingxin , Zhang Qinghong , Liu Min , Xu Jun , Guo Jianping , Fan Huiyi
Published: January 2025

The activity of the summer monsoon generates a complex convective environment and results in a large amount of convection initiation, whether embedded or isolated (i.e., ECI and ICI). However, there is still no consensus on how different are the triggering conditions that they undergo. For the first time, the respective spatiotemporal distributions of ECI and ICI, as well as their dependence on convective environments, lifting conditions, and their connection to monsoon circulations, are investigated statistically by using observations from radar and automated weather stations, reanalysis data, and a machine‐learning method during a Meiyu season over the Yangtze–Huai River Basin of China. The results show that ECI and ICI experience similar dynamic conditions but distinct thermodynamic convective environments due to the influence of a long‐lasting rain band. Consequently, ICI frequently occurs in the afternoon and around mountains, with a close connection to solar‐radiation‐induced atmospheric instability and topographic lifting but less sensitivity to circulation variations. In contrast, ECI exhibits a broader distribution over both plains and mountains, with two prominent peaks at 08:00 and 15:00 local time, and occurs more frequently when the front force was increased, resulting in more elevated initiation with convective updrafts generated above the boundary layer.
Steep orographic effects on local precipitation in the Hengduan Mountain region: Insights from an idealized modeling perspective
Authors: Zhang Mengke , Li Jian , Li Nina
Published: January 2025

Precipitation in the Hengduan Mountain region is frequently initiated over the crests of the steep mountains which are oriented quasi‐north–south. The microphysical and dynamic processes that contribute to orographic precipitation over Cang Mountain, a steeply sloping terrain representative of the Hengduan Mountains, are investigated by utilizing an idealized cloud‐resolving model. A typical isolated precipitation case occurs at night when westerly airflow in the middle and lower troposphere is statically stable but conditionally unstable. The precipitation is initiated over the mountain peak and subsequently propagates eastward, which is effectively captured by the simulation with a 4.2‐km mountain half‐width mimicking Cang Mountain. The higher efficiency of snow and graupel accretion, in comparison to rainwater, significantly impacts the precipitation over the peak, where the altitude is above the freezing level. As a result of the relatively weak terminal fall velocity, the ice‐phase hydrometeors are advected eastward by the ambient wind, which is responsible for the eastward propagation of cold‐cloud precipitation. Sensitivity experiments with varying mountain width reveal the underlying physical mechanisms for the influence of topographic steepness on precipitation development and atmospheric flow regimes. With an increase of the mountain width, the leeward precipitation shifts further away from the mountain peak and exhibits an evident decrease in intensity. When the mountain half‐width is expanded to 15.0 km, a marked mountain‐wave pattern emerges, favoring subsidence on the leeward side of the barrier. Stronger descending air motions over the lee slope lead to the acceleration of horizontal wind and reduce moisture condensation. Consequently, warming and dry localized atmospheric conditions inhibit hydrometeor growth, resulting in a dramatic reduction of precipitation over the widened mountain. The insights provided by this study deepen our understanding of how steep terrain modulates atmospheric processes to influence local precipitation patterns over topographic areas.
Controlling of Applied Force and Cornea Displacement Estimation in Robotic Corneal Surgery With a Gripper Surgical Instrument
Authors: Soltani Sharif Abadi Ali , Ordys Andrew , Pierscionek Barbara
Published: January 2025

Background

The human eye consists of highly sensitive, hydrated, and relatively thin tissues, making precise control and accurate force estimation crucial in robotic eye surgery. This paper introduces a novel control method and state observer designed for a gripper surgical instrument used on the external ocular surface during robotic eye surgery.

Methods

A novel state observer, operating in tandem with the controller, estimates the applied force. The proposed control approach, termed the Fixed‐time Observer‐based Sliding Mode Control (FOSMC), estimates the applied force by determining the gripper states and uses an eye model to calculate its displacement.

Results

The performance of the proposed control method was compared with two other finite‐time and asymptotic techniques across two scenarios. The results demonstrated excellent performance using the proposed method.

Conclusions

The FOSMC control technique effectively estimates the applied force during robotic eye surgery, making it a reliable solution for controlling the gripper surgical instrument.
Sand is the unifying textural component influencing surface‐soil carbon and nitrogen fractions across undisturbed land uses in North Carolina
Authors: Franzluebbers Alan J.
Published: January 2025

Soil organic matter concentrations are associated with soil texture in some but not in all studies. Why there are variable responses to soil texture can have logical reasons, the most obvious of which are inconsistent historical land uses, interactions with climatic and landscape settings, and management variations within a land use. In an evaluation of surface soils (0‐ to 10‐cm depth) under consistently undisturbed land use from 648 sites across relatively narrow climatic variations in North Carolina, large soil texture variations were assembled into structured populations (n = 27) of sand and clay categories (n = 24). Sand concentration varied from 220 to 881 g kg−1, silt concentration varied from 67 to 517 g kg−1, and clay concentration varied from 47 to 360 g kg−1 (5%–95% limits). Overwhelmingly, total, particulate, and non‐particulate organic C and N fractions were more statistically associated with sand concentration than with clay concentration alone. Sand concentration is the inverse of clay + silt summation and is a necessary feature when determining particulate organic C and N. Soil bulk density and sieved soil density were also more closely associated with sand concentration than with clay concentration alone. This study confirmed there was no saturation limit for the accumulation of non‐particulate organic C and N (sometimes labeled mineral‐associated organic matter). Therefore, sand concentration should be considered the best indicator of soil textural influence on soil organic matter properties and a key contextual feature necessary for soil health assessments.
Recontextualization in Multilingual Science Teacher Professional Learning
Authors: Von Esch Kerry Soo , Betancourt Cristina , Thompson Jessica , Varghese Manka , Li Hsin‐Jung , Venegas‐Weber Patricia
Published: January 2025

Examining the contextual nature of teacher professional learning is important for teachers of multilingual learners. Drawing on interview, classroom observation, and informal communication data for two focal dual language elementary science teachers, this qualitative comparative case study examines the situated nature of multilingual science teacher learning and practice processes: (1) What are the intersecting contexts that shape teachers' science learning‐practice in multilingual classrooms? (2) In what ways do these contextual dimensions intersect to create opportunities and tensions in teacher learning‐practice? Data come from a multiyear, multisite project that examines teacher learning and student discourse in science, language, and literacy instruction in dual language and multilingual classrooms. Drawing on the concept of “teacher learning‐practice,” findings show how teachers engaged the contextual challenges of the pandemic, online teaching, and existing programmatic, school, and district structures, as a part of their own teacher learning, through a process of recontextualization. Findings show how the teachers' contexts served as catalysts and moderators in recontextualization, and that generalized district‐based professional development was not meeting the needs of the teachers nor their multilingual students. This study provides empirical evidence for context as a key constituent of teacher learning‐practice, showing how teacher learning cannot exist outside of teachers' instructional practice nor the contexts with(in) which teachers teach. This study adds to the literature calling for teacher professional learning opportunities to be localized to their teaching and learning contexts versus a “one‐size‐fits‐all” approach that is typically used when planning and implementing professional development by illuminating the experiences of elementary science teachers working with multilingual students. This paper is part of the special issue on Teacher Learning and Practice within Organizational Contexts.
Process Optimization Studies for Synthesis and Applications of P(DADMAC) Cationic Homopolymer for Enriched Hair Care Formulation
Authors: Girase Chetan D. , Jadhav Pravin D. , Rajput Yogeshsing N. , Kulkarni Ravindra D.
Published: January 2025

In the present research work, the free radical solution polymerization technique was established to synthesize the stable P(DADMAC) [poly(diallyl dimethyl ammonium chloride)] cationic homopolymer in an aqueous medium. The polymerization of DADMAC monomer was accomplished through initiation by using water‐soluble initiators such as ammonium persulfate (APS) and potassium persulfate (KPS) and propagation through two vinyl double bonds at 70–75 °C for the reaction period of 5 h. The effect of initiator concentration and reaction temperature on the conversion of DADMAC to P(DADMAC) homopolymer was optimized based on the elucidation of structural properties and evaluation of the average molecular weight and viscosity of the product. The chemical structure of the P(DADMAC) was examined using Fourier transform infrared spectroscopy (FT‐IR) and subsequently verified through proton nuclear magnetic resonance spectroscopy (1H‐NMR). The gel permeation chromatography (GPC) technique was employed to estimate the average molecular weight of the P(DADMAC) cationic homopolymer. The surface active properties of the P(DADMAC) homopolymer were analyzed by using a surface tensiometer at 1–1000 mg/L at 25 °C, which demonstrated the reduction of surface tension of water from 72 to (40.4 to 47.6) mN/m compared to (DMAPMA‐co‐C12DM) and (DMAPMA‐co‐C10MVBA) polymers that are reported in the literature. The hair care properties of P(DADMAC) were examined through the formulation of conditioning shampoo, the evaluation of surface activity, and the physicochemical and rheological characteristics of the formulation.
Alanine‐Rich Cyclopeptides: Natural Resources, Bioactivity, Total Synthesis, and Spectroscopy Identification
Authors: Aloanis Anderson Arnold , Herlina Tati , Hardianto Ari , Maharani Rani
Published: January 2025

Cyclopeptides are a class of organic compounds that demonstrate unique biochemical and therapeutic features, that are suitable for the pharmaceutical applications. Among the diverse class of cyclopeptides, alanine‐rich cyclopeptide are found to be potential. This class of peptides have diverse biological properties such as antimicrobial and cytotoxic properties. Alanine‐rich cyclopeptides, with their unique structures, are found in a variety of natural sources, including microorganisms and higher plants. Several of the peptides that have been synthesized by using some synthetic methods. Studies have related to the mechanism of biological action of the peptides that have also been widely explained to understand their biological properties. This review describes the natural resources, chemical aspect, synthesis, and bioactivity of alanine‐rich peptides. Recent study for their mechanism of action is also highlighted.