bluuebunny/crossref_metadata_2025_split huggingface dataset:
Diagnosis and management of patients with Gaucher disease: an Egyptian expert opinion
Authors: El-Beshlawy Amal , Tantawy Azza A. G. , Shawky Rabah M. , Elsayed Solaf M. , Marzouk Iman M. , Elgawhary S. , Abdelghaffar Hadeer , Safy Usama El , Eid Khaled , EISayh Khalid I. , Megahed Ahmed , Adly Amira , Sherif Eman M. , Youssef Mervat A. M. , Fathy Manar Mohamed , Salah Nouran Yousef , Elzeiny Sherine M. , EI Bakky Eslam Rabie Abdel Aziz , Fateen Ekram 
Published: July 2024

Abstract
Background
Gaucher disease (GD), an autosomal recessive, lysosomal storage disorder, is caused due to mutations in the glucocerebrosidase (GBA) gene. GD can occur at any age and is classified as type 1 (non-neurologic), type 2 (infantile form, with acute early neurologic manifestation), and type 3 (subacute/chronic neuropathic form). The rarity of the disease and its overlapping symptoms with other diseases increase the delay in diagnosis. The Egyptian cohort of patients with GD is specifically different regarding the prevalence of type 3 as well as the severity and progression of the disease. The unavailability of precise diagnostic tests and lack of awareness among clinicians are the current challenges associated with diagnosing and managing GD in Egypt.

Method
An expert panel meeting was convened with 19 experts from Egypt to address the current unmet challenges in the diagnosis and management of GD from the region and to develop country-specific diagnostic algorithms based on the existing literature for pediatric and adult groups. In addition, management strategies and preventive measures were also discussed.

Result
The algorithms presented in this review can be implemented in clinical practice for the timely diagnosis of patients with GD in Egypt. Early diagnosis is crucial in selecting the best treatment for patients with GD, and evidence suggests that early initiation of therapy can result in better outcomes.

Conclusion
The evidence-based expert opinion presented in this review will help clinicians in the early initial diagnosis of GD in Egypt, leading to appropriate management of the disease.
NKX2.5 coding exons sequencing reveals novel non-synonymous mutations in patients with sporadic congenital heart diseases among the Tanzanian population
Authors: Suluba Emmanuel , Masaganya James , Mbugi Erasto , Masala Mwinyi , Mathew Jackline , Mruma Henry , Shuwei Liu 
Published: July 2024

Abstract
Background
The evolutionally conserved homeobox transcription factor NKX2-5 has been at the forefront in the field of cardiac biology, providing molecular insights into the mechanisms of cardiac development and disease. This homodomain transcription factor is a central regulator of cardiac development and is expressed in both the first and second heart fields (FHF and SHF). Mutations in the NKX2-5 gene have been linked to sporadic cases of congenital heart disease (CHD), making it a significant target for research and study. While several studies have been conducted on Caucasian populations, there is a dearth of knowledge on the effects of NKX2-5 gene mutations in other settings, underscoring the need for further investigation. Due to differences in geographical and ancestral origin, we hypothesize that mutations may vary across different populations. Understanding the genetic factors that cause CHD is essential for providing effective genetic counseling and developing strategies for risk reduction. Additionally, identification of NKX2-5 mutations in individuals with CHDs is crucial because patients with CHDs are at a higher risk of progressive conduction disease and sudden cardiac death, and genetic information is taken into consideration while making decisions regarding pacemakers and implantable cardiac defibrillators. To determine the risk of congenital heart disease among infants, we conducted a study where we sequenced the exon 1 and exon 2 of NKX 2.5 in patients with sporadic CHDs, with the aim of identifying mutations in the NKX2.5 gene.

Results
In this study, a novel frame-shift disease-causing mutation was discovered in patients with atrial-ventricular septal defect. The mutation, identified as c95_95 del A; cDNA.369–369 delA; g 369–369 delA, resulted in the substitution of phenylalanine to leucine (F295L), which in turn caused a truncated NKX2.5 protein. In addition, a non-synonymous mutation, g 316C > T; cDNA 316C > T leucine to arginine (L37R) substitution, was found in a patient with the tetralogy of Fallot, affecting protein function. Furthermore, a novel non-synonymous mutation identified as g 2295–2298; cDNA 755–758 delins AGGG, was predicted by mutation taster to be disease-causing in a ventricular septal defect. It is worth noting that none of these mutations were found among the control subjects, highlighting their potential significance in the pathogenesis of these cardiac defects.

Conclusion
Mutations in the NKX2.5 gene are associated with congenital heart diseases and provide molecular insight into the pathogenesis of congenital heart diseases. We recommend that patients with NKX2.5 mutations have periodic screening for cardiac conduction abnormalities and be evaluated for potential implanted cardiac defibrillators and pacemakers.
The governing role of board gender diversity on conditional accounting conservatism and executive remuneration: performance-based versus equity-based remunerations
Authors: Bedeir Reem Essam 
Published: July 2024

AbstractThis study examines the governing role of gender diversity on the board of directors on conditional accounting conservatism and executive remuneration. Using proprietary data about women representation on the board of directors to investigate the impact on the choice between accounting methods and the structure of executives remuneration. A sample of listed firms on the London Stock Exchange from 2019 to 2022 is used. The results first document that firms exhibit a higher level of conditional accounting conservatism when women represent a larger fraction of the board. The analyses further establish different relationships between performance-based versus equity-based remunerations and conditional accounting conservatism. Last, the results show that women representation is related to pay out policy and its impact on conditional accounting conservatism. The findings also offer novel insights on the governing role and consequences of gender diversity of woman chairperson and/or woman CEO. Overall, contrary to notions of opportunistic behavior of executives, the results find that boards achieve more level of governance with more women representation.
Validity and sustainability of a phonological assessment tool for Bulgarian preschool children: cross-sectional study
Authors: Braynova Tsvetomira , Simonska Miglena 
Published: July 2024

AbstractPhonology is a widely discussed topic that is studied in detail by linguists, psycholinguists, philologists, pedagogues, and last, but not least, by speech and language pathologists. The assessment methods do inform us about the phonological processes and phonological delays in details by comparing the results with those of a normative sample and offer an opportunity to gradate the severity of the disorder, which is individual and can vary significantly in individual children. The aim of the study is to present evidence of the validity and reliability of a phonological assessment tool developed to assess the phonological inventory of Bulgarian preschool children. For this purpose, an author’s test was developed and conducted among 382 Bulgarian children.Results The present study provided evidence of validity and reliability (internal consistency) for this phonological assessment tool, confirming the reliability of its three subtests.Conclusions The present findings provide strong evidence of the validity and reliability of this phonological assessment tool.
Reconstruction of oncologic nasal defects using the forehead flap: technical aspects and results
Authors: Dhaha Mohamed , Lahmar Rihab , Jbali Souheil , Braham Rim , Methnani Alia , Dhambri Sawsen , Kedous Skander 
Published: July 2024

Abstract
Introduction
Skin cancer frequently hits the nasal pyramid. Reconstruction of the nasal defects of the nasal pyramid after oncologic resection is challenging for plastic surgeons due to the anatomic complexity of the nose. The forehead flap is a pedicled flap used since antiquity in the reconstruction of nasal defects.

Methods
We retrospectively reviewed the medical records of 30 patients operated for skin cancer of the nasal pyramid with reconstruction of the skin defect by forehead flap between the years 2008 and 2020.

Results
The mean age was 66.3. The sex ratio was 2.75. The tumor mean size of the tumor was 34 mm ranging between 19 and 50 mm. Twenty-nine patients required a second time surgery for flap severing and degreasing. The paramedian forehead flap was used in 20 cases, the “sea gull” flap in 5 cases, the inclined FF in 4 cases, and the island FF in 1 case.

Conclusion
Surgical techniques of FF offer good aesthetic results with a lesser morbidity rate. Our retrospective report attests to the reliability of FF as the workhorse for the reconstruction of small and average nasal defects.
Shared alleles and genetic structures in different Thai domestic cat breeds: the possible influence of common racial origins
Authors: Jaito Wattanawan , Singchat Worapong , Patta Chananya , Thatukan Chadaphon , Kumnan Nichakorn , Chalermwong Piangjai , Budi Trifan , Panthum Thitipong , Wongloet Wongsathit , Wattanadilokchatkun Pish , Thong Thanyapat , Muangmai Narongrit , Han Kyudong , Duengkae Prateep , Phatcharakullawarawat Rattanin , Srikulnath Kornsorn 
Published: July 2024

AbstractOver hundreds of years, cats have been domesticated and selectively bred, resulting in numerous pedigreed breeds expedited by recent cat shows and breeding associations. Concerns have been raised about the limited breeding options and the genetic implications of inbreeding, indicating challenges in maintaining genetic diversity and accurate identification in purebred cats. In this study, genetic variability and structure were examined in 5 Thai domestic cat breeds using 15 microsatellite markers and mitochondrial DNA (mtDNA) D-loop sequencing. In total, 184 samples representing the Wichien Maat (WCM), Suphalak (SL), Khao-Manee (KM), Korat (KR), and Konja (KJ) breeds were analyzed. High genetic diversity (Ho and He > 0.5) was observed in all breeds, and mtDNA analysis revealed two primary haplogroups (A and B) that were shared among all domestic cat breeds in Thailand and globally. However, minor differences were observed between Thai domestic cat breeds based on clustering analyses, in which a distinct genetic structure was observed in the WCM breed. This suggests that allele fixation for distinctive morphological traits has occurred in Thai domestic cat breeds that emerged in isolated regions with shared racial origins. Analysis of relationships among individuals within the breed revealed high identification efficiency in Thai domestic cat breeds (P(ID)sibs < 10−4). Additionally, diverse and effective individual identification can be ensured by optimizing marker efficiency by using only nine loci. This comprehensive genetic characterization provides valuable insights into conservation strategies and breeding practices for Thai domestic cat breeds.
Deep Learning Artificial Intelligence Predicts Homologous Recombination Deficiency and Platinum Response From Histologic Slides
Authors: Bergstrom Erik N. , Abbasi Ammal , Díaz-Gay Marcos , Galland Loïck , Ladoire Sylvain , Lippman Scott M. , Alexandrov Ludmil B. 
Published: July 2024

PURPOSE
Cancers with homologous recombination deficiency (HRD) can benefit from platinum salts and poly(ADP-ribose) polymerase inhibitors. Standard diagnostic tests for detecting HRD require molecular profiling, which is not universally available.

METHODS
We trained DeepHRD, a deep learning platform for predicting HRD from hematoxylin and eosin (H&E)–stained histopathological slides, using primary breast (n = 1,008) and ovarian (n = 459) cancers from The Cancer Genome Atlas (TCGA). DeepHRD was compared with four standard HRD molecular tests using breast (n = 349) and ovarian (n = 141) cancers from multiple independent data sets, including platinum-treated clinical cohorts with RECIST progression-free survival (PFS), complete response (CR), and overall survival (OS) endpoints.

RESULTS

DeepHRD predicted HRD from held-out H&E-stained breast cancer slides in TCGA with an AUC of 0.81 (95% CI, 0.77 to 0.85). This performance was confirmed in two independent primary breast cancer cohorts (AUC, 0.76 [95% CI, 0.71 to 0.82]). In an external platinum-treated metastatic breast cancer cohort, samples predicted as HRD had higher complete CR (AUC, 0.76 [95% CI, 0.54 to 0.93]) with 3.7-fold increase in median PFS (14.4
v
3.9 months;
P
= .0019) and hazard ratio (HR) of 0.45 (
P
= .0047). There were no significant differences in nonplatinum treatment outcome by predicted HRD status in three breast cancer cohorts, including CR (AUC, 0.39) and PFS (HR, 0.98,
P
= .95) in taxane-treated metastatic breast cancer. Through transfer learning to high-grade serous ovarian cancer, DeepHRD-predicted HRD samples had better OS after first-line (HR, 0.46;
P
= .030) and neoadjuvant (HR, 0.49;
P
= .015) platinum therapy in two cohorts.

CONCLUSION
DeepHRD can predict HRD in breast and ovarian cancers directly from routine H&E slides across multiple external cohorts, slide scanners, and tissue fixation variables. When compared with molecular testing, DeepHRD classified 1.8- to 3.1-fold more patients with HRD, which exhibited better OS in high-grade serous ovarian cancer and platinum-specific PFS in metastatic breast cancer.
Vulnerability of Gen-Z to E-Commerce Deception on Consumer's Belief Categories in Online Product Recommendations Systems
Authors: Krishnaraj Ramya , Parveen Shiraz 
Published: July 2024

Purpose: Despite the convenience of the Online Product Recommendation (OPR) system, concerns persist regarding deception practices in online shopping, especially among consumers from the Generation Z demographic cohort, for which less attention has been given in the previous literature.
Methodology/Approach: The impact of independent variables, namely Perceived Usefulness, Perceived Enjoyment, and Perceived Risk, on Susceptibility to e-commerce fraud among Gen Z consumers has been studied. By conducting a mall intercept survey in four major metropolitan cities in India with a usable sample of 488 responses, the study empirically tested the data using SmartPLS 4.0.
Findings: The study concludes that Perceived Usefulness and Enjoyment positively influence continuous usage intention, while Perceived Deception and Perceived Risk are negatively connected with continuous usage intention. It depicts that the Gen Z consumer's belief categories formed during their early years as digital natives sharpen their alertness to deception practices.
Research Limitation/Implication: The study may not be generalised to represent Gen Z consumers as it collected data only from those who visited malls in the metropolitan cities of India.
Originality/Value of paper: This paper exclusively investigates the interrelation of belief categories to continuous usage intention. Further, the intersection of perceived Deception is proved in light of the E-commerce practices.
Flu season takeaways – what nurses need to know this winter
Authors: Heffernan Catherine 
Published: July 2024

This article was sponsored by CSL Seqirus. CSL Seqirus had no involvement in the writing or editorial process of this article. Since the flu pandemic of 2009 (with exception of the two pandemic years), our flu seasons tended to have followed a low and late pattern. Influenza starts circulating around January with type A strains first then followed by type B leading into April and May. The pattern of influenza was different in 2023/24. Reported positivity rates were considerably lower than 2022/23 (and compared to 2017/18 onwards). Rates peaked in January but as of week 18, remain higher than 2022/23 and follow that low late pattern. This article discusses the learnings from recent flu seasons and how nurses can most effectively use the annual immunisation drive.
Quadrature demodulation with a synchronous difference for broadband source-driven resonant fiber-optic gyroscopes
Authors: Wang Yuxin , Li Binjie , Liu Shuang , Hu Junyi , Ma Huilian 
Published: July 2024

A broadband source-driven resonant fiber-optic gyroscope (RFOG) has recently been proposed as a means of achieving navigation-grade performance in a 100-meter-long fiber-optic ring resonator with a simple optical structure and signal processing. In this paper, a mathematical model of sinusoidal modulation and synchronous demodulation is developed to analyze the effect of relative intensity noise of the broadband light source on gyro performance so as to obtain the optimal modulation index and minimize the angular random walk. On this basis, a quadrature demodulation synchronous difference scheme is introduced for the broadband source-driven RFOG, which further improves the bias stability of the gyroscope by utilizing its common-mode rejection. Finally, an angle random walk of 0.0026∘/h1/2 and a bias instability of 0.0051°/h were demonstrated by using a fiber-optic ring resonator with a length of 109 m and a mean diameter of 7.6 cm.
Dual-comb source with a reconfigurable repetition frequency difference using intracavity Brillouin lasers
Authors: Shi Yang , Yang Yue-De , Wang Ting , Wei Hang-Dong , Xiao Jin-Long , Chen You-Ling , Huang Yong-Zhen 
Published: July 2024

A Brillouin-assisted 80-GHz-spaced dual-comb source with a reconfigurable repetition frequency difference ranging from 48 MHz to 1.486 GHz is demonstrated. Two pairs of dual-pump seeds with an interval offset produce the corresponding dual Brillouin lasers in two fiber loops, and then the Brillouin lasers give rise to dual combs via the cavity-enhanced cascaded four-wave mixing effect. The repetition frequency difference is determined by the interval offset of the dual-pump seeds, which is induced by the Brillouin frequency shift difference between different fibers in a frequency shifter. Each comb provides 22 lasing lines, and the central 10 lines in a 20-dB power deviation feature high optical signal-to-noise ratios exceeding 50 dB. The linewidths of the dual-comb beating signals are less than 300 Hz, and the absolute linewidths of the comb lines are around 1.5 kHz. The dual-comb source enables substantial repetition frequency differences from 48 MHz to 1.486 GHz by changing the pluggable fibers in the frequency shifter.
Full-polarization reconfigurable metasurface for broadband and versatile modulation of electromagnetic waves
Authors: Chu Zuntian , Cai Xinqi , Yang Jie , Li Tiefu , Sun Huiting , Wu Fan , Zhu Ruichao , Liu Tonghao , Han Yajuan , Wang Jiafu 
Published: July 2024

Reconfigurable metasurfaces enable dynamic and real-time manipulation of electromagnetic (EM) waves in subwavelength resolution, possessing unparalleled potentials to construct meta-devices. However, most existing reconfigurable metasurfaces either operate under single polarization or in limited polarization channels or discretely tailor EM variables within relatively narrow bandwidth, which are hard to adapt to the urgent development requirements of multitask and highly integrated intelligent communication systems. Herein, a reconfigurable metasurface strategy based on continuous amplitude modulation utilizing circularly polarized (CP) basis vectors is proposed and demonstrated, with which the orthogonal component energy proportion of an arbitrarily polarized wave can be tailored, achieving full-polarization customized broadband and versatile function generation and control. Two symmetrically positive–intrinsic–negative diodes embedded into split-ring resonators are employed to simultaneously and independently switch dual-channel co-polarized amplitude with almost unaltered phase, which significantly simplifies control framework and enhances information capacity. In addition, a full-polarization reconfigurable metasurface prototype of 0.1λ0 thickness is designed and fabricated, which can continuously tune the reflection, polarization conversion, and absorption via loading different external bias voltages from 6 to 8.6 GHz. This inspiring methodology opens up routes for advanced multiplexed equipment and might find applications in future-oriented data storage and multi-input/multi-output systems.
Effects of short inter-pregnancy/birth interval on adverse perinatal outcomes in Asia-Pacific region: A systematic review and meta-analysis
Authors: Hassen Tahir Ahmed , Harris Melissa L. , Shifti Desalegn Markos , Beyene Tesfalidet , Khan Md Nuruzzaman , Feyissa Tesfaye Regassa , Chojenta Catherine 
Published: July 2024

Background
Short inter-pregnancy or birth interval is associated with an increased risk of adverse perinatal outcomes. However, some emerging evidence questions this association and there are also inconsistencies among the existing findings. This study aimed to systematically review the evidence regarding the effect of short inter-pregnancy or birth intervals on adverse perinatal outcomes in the Asia-Pacific region.

Methods
A comprehensive search of five databases was conducted targeting studies published between 2000 to 2023. Studies that reported on short inter-pregnancy or birth interval and examined adverse perinatal outcomes, such as low birthweight (LBW) preterm birth (PTB), small for gestational age (SGA), and neonatal mortality were included and appraised for methodological quality using the Joanna Briggs Institute critical appraisal tools. Three reviewers independently screened the studies and performed data extraction. Narrative synthesis and meta-analyses were conducted to summarise the key findings.

Results
A total of 41 studies that fulfilled the inclusion criteria were included. A short-interpregnancy interval was associated with an increased risk of low birthweight (odds ratio [OR] = 1.65; 95%CI:1.39, 1.95), preterm birth (OR = 1.50; 95%CI: 1.35, 1.66), and small for gestational age (OR = 1.24; 95%CI:1.09, 1.41). We also found elevated odds of early neonatal mortality (OR = 1.91; 95%CI: 1.11, 3.29) and neonatal mortality (OR = 1.78; 95%CI: 1.25, 2.55) among women with short birth intervals.

Conclusion
This review indicates that both short inter-pregnancy and birth interval increased the risk of adverse perinatal outcomes. This underscores the importance of advocating for and implementing strategies to promote optimal pregnancy and birth spacing to reduce the occurrence of adverse perinatal outcomes. Reproductive health policies and programs need to be further strengthened and promote access to comprehensive family planning services and increase awareness about the importance of optimal pregnancy and birth spacing.
What Computers Still Can’t Do: A Critique of Artificial Reason, Hubert Dreyfus (1972)
Authors: Corr Matt 
Published: July 2024

Review of: What Computers Still Can’t Do: A Critique of Artificial Reason, Hubert Dreyfus (1972)
Cambridge, MA: MIT Press, 354 pp.,
ISBN 978-0-26254-067-4, p/bk, $13.95