bluuebunny/crossref_metadata_2025 huggingface dataset:
Assessment of BRCA1 and BRCA2 Germline Variant Data From Patients With Breast Cancer in a Real-World Data Registry
Authors: Nepomuceno Thales C. , Lyra Paulo , Zhu Jianbin , Yi Fanchao , Martin Rachael H. , Lupu Daniel , Peterson Luke , Peres Lauren C. , Berry Anna , Iversen Edwin S. , Couch Fergus J. , Mo Qianxing , Monteiro Alvaro N.
Published: May 2024

PURPOSE

The emergence of large real-world clinical databases and tools to mine electronic medical records has allowed for an unprecedented look at large data sets with clinical and epidemiologic correlates. In clinical cancer genetics, real-world databases allow for the investigation of prevalence and effectiveness of prevention strategies and targeted treatments and for the identification of barriers to better outcomes. However, real-world data sets have inherent biases and problems (eg, selection bias, incomplete data, measurement error) that may hamper adequate analysis and affect statistical power.

METHODS

Here, we leverage a real-world clinical data set from a large health network for patients with breast cancer tested for variants in BRCA1 and BRCA2 (N = 12,423). We conducted data cleaning and harmonization, cross-referenced with publicly available databases, performed variant reassessment and functional assays, and used functional data to inform a variant's clinical significance applying American College of Medical Geneticists and the Association of Molecular Pathology guidelines.

RESULTS

In the cohort, White and Black patients were over-represented, whereas non-White Hispanic and Asian patients were under-represented. Incorrect or missing variant designations were the most significant contributor to data loss. While manual curation corrected many incorrect designations, a sizable fraction of patient carriers remained with incorrect or missing variant designations. Despite the large number of patients with clinical significance not reported, original reported clinical significance assessments were accurate. Reassessment of variants in which clinical significance was not reported led to a marked improvement in data quality.

CONCLUSION

We identify the most common issues with BRCA1 and BRCA2 testing data entry and suggest approaches to minimize data loss and keep interpretation of clinical significance of variants up to date.
Cost-effectiveness of Genetic Testing of Endocrine Tumor Patients Using a Comprehensive Hereditary Cancer Gene Panel
Authors: Patócs Attila , Nagy Petra , Papp János , Bozsik Anikó , Antal Bálint , Grolmusz Vince Kornél , Pócza Tímea , Butz Henriett
Published: May 2024

Introduction

Heterogenous clinical manifestations, overlapping phenotypes, and complex genetic backgrounds are common in patients with endocrine tumors. There are no comprehensive recommendations for genetic testing and counseling of these patients compared to other hereditary cancer syndromes. The application of multigene panel testing is common in clinical genetic laboratories, but their performance for patients with endocrine tumors has not been assessed.

Methods

As a national reference center, we prospectively tested the diagnostic utility and cost-efficiency of a multigene panel covering 113 genes representing genetic susceptibility for solid tumors; 1279 patients (including 96 cases with endocrine tumors) were evaluated between October 2021 and December 2022 who were suspected to have hereditary tumor syndromes.

Results

The analytical performance of the hereditary cancer panel was suitable for diagnostic testing. Clinical diagnosis was confirmed in 24% (23/96); incidental findings in genes not associated with the patient's phenotype were identified in 5% (5/96). A further 7% of pathogenic/likely pathogenic variants were detected in genes with potential genetic susceptibility roles but currently no clear clinical consequence. Cost-benefit analysis showed that the application of a more comprehensive gene panel in a diagnostic laboratory yielded a shorter turnaround time and provided additional genetic results with the same cost and workload.

Discussion

Using comprehensive multigene panel results in faster turnaround time and cost-efficiently identifies genetic alterations in hereditary endocrine tumor syndromes. Incidentally identified variants in patients with poor prognoses may serve as a potential therapeutic target in tumors where therapeutic possibilities are limited.
The Role of Imatinib in Pediatric Type 1 Diabetes
Authors: Lavelle Kristen , Chamberlain Chester , German Michael , Anderson Mark , Nip Angel , Gitelman Stephen E
Published: May 2024

We report the first case of imatinib use in an adolescent with diabetes and suggest that it impacts the natural course of disease. A 14-year-old male patient presented in diabetic ketoacidosis (DKA) and was diagnosed with presumed autoantibody-negative type 1 diabetes (T1D) as well as myeloid neoplasm with platelet-derived growth factor receptor beta (PDGFRB) rearrangement. After starting exogenous insulin and imatinib, he experienced a 1.7-point reduction in glycated hemoglobin (HbA1c) and a 71% reduction in insulin requirement with sustained partial diabetes remission. Our case suggests imatinib as a potential therapeutic agent for pediatric T1D.
THRB Gene Mosaicism Confirmed by Next-Generation Sequencing in a Clinically Symptomatic Infant
Authors: Cheng Jenny Yeuk Ki , Subramaniam Shreenidhi Ranganatha , Leung Hoi Shan , Wong Sammy Wai Chun , Kwok Jeffrey Sung Shing , Lam Wai Kei Jacky
Published: May 2024

A 4-day-old infant was admitted for neonatal jaundice. He had persistent tachycardia and tachypnea. Initial workup showed a serum free T4 of 75.6 pmol/L (5.87 ng/dL) (reference range: 11.5-28.3 pmol/L; 0.89-2.20 ng/dL) and a nonsuppressed TSH 3.76 mIU/L (reference range: 0.72-11.0 mIU/L). A TRH stimulation test showed an exaggerated TSH response with a peak of 92.1 mIU/L at 30 minutes after TRH injection, which suggested the diagnosis of resistance to thyroid hormone β syndrome. Sanger sequencing showed a questionable pathogenic variant in the THRB gene with low signal amplitude. Restriction fragment length polymorphism was consistent with its presence. The variant was originally reported as heterozygous. Next-generation sequencing was performed on blood and buccal swab samples of the patient and his parents, which confirmed this de novo mosaic variant NM_000461.5:c.1352T > C p.(Phe451Ser) in the patient but not in his asymptomatic parents. As it was in a mosaic state, only the offspring, but not other first-degree relatives, of the patient would have the risk of inheriting that variant.
Correlation Between Glycemic Control and Serum Thyroglobulin Levels in a Patient With RAI-Refractory Thyroid Cancer
Authors: Hataya Yuji , Nomura Takumi , Fujishima Yuko , Fujimoto Kanta , Iwakura Toshio , Matsuoka Naoki
Published: May 2024

Diabetes is a risk factor for thyroid cancer development. Serum thyroglobulin (Tg) levels are useful as sensitive and specific tumor markers for monitoring radioiodine (RAI)-refractory thyroid cancer; however, the impact of glycemic control on serum Tg levels is poorly understood. Here, we present a case of a female patient with lung metastases of RAI-refractory thyroid cancer in whom glycemic control may have influenced the serum Tg levels. Despite receiving thyroid-stimulating hormone suppression therapy, her serum Tg levels remained elevated. Subsequently, she developed type 2 diabetes and was administered antidiabetic medications for 6 years. Throughout the course of diabetes management, her serum Tg levels fluctuated according to the level of glycemic control, showing a strong correlation with her hemoglobin A1c levels (r = 0.92, P < .01). Similar to the serum levels of other tumor markers, such as the carcinoembryonic antigen and carbohydrate antigen 19-9, the serum levels of Tg can be influenced by glycemic control. Therefore, serum Tg levels in patients with RAI-refractory thyroid cancer and diabetes should be monitored with attention to glycemic control.
Cubital Tunnel Syndrome Due to Intraneural Ganglion Cysts of the Ulnar Nerve With Joint-Cyst Connection at the Elbow
Authors: Li Hui , Gao Lei , Qi Hengtao , Guan Shibing
Published: May 2024

BACKGROUND AND OBJECTIVES:

The unifying articular theory suggests that intraneural ganglion cysts in the cubital tunnel arise from the elbow joint and are connected to the ulnar nerve through an articular branch. This study aimed to report our clinical experience with these cysts and our surgical findings and outcomes.

METHODS:

We retrospectively analyzed 13 patients who underwent surgery for cubital tunnel syndrome caused by an intraneural ganglion cyst of the ulnar nerve. Clinical symptoms, physical examination findings, nerve conduction testing electromyography, plain radiography, and ultrasonography were evaluated before and after surgery. MRI was performed in 2 patients. Cyst decompression, disconnection of the articular branch, and ulnar nerve transposition were performed in all.

RESULTS:

The mean follow-up was 29 months. After surgery, local elbow pain and Tinel sign disappeared in all patients, and the average Numerical Rating Scale dropped from 3.7 (2-5) to 0 (0-0). Two-point discrimination testing was normal (<5.0 mm) in 12 patients. Wartenberg sign and “claw hand” deformity became negative, and muscle function and motor nerve conduction velocity were improved in 12 patients. The Medical Research Council muscle strength grade was M4 or M5 in the flexor carpi ulnaris, flexor digitorum profundus of the 4th and 5th digits, and first dorsal interosseous muscle in 12 patients. Postoperative spontaneous potentials including fibrillation and sharp waves, and motor unit recruitment in the first dorsal interosseous muscle were obviously improved. A cystic articular branch was confirmed during surgery in all patients. No cyst recurred clinically or on follow-up ultrasonography.

CONCLUSION:

The unifying articular theory of intraneural ganglion cysts applies to those located in the ulnar nerve at the elbow. Surgical disconnection of the articular nerve branch from the ulnar nerve eliminated the pathway for cyst recurrence and achieved good long-term outcomes.
Safety and Efficacy of Surgical Implantation of Intrathecal Drug Delivery Pumps in Patients With Cancer With Refractory Pain
Authors: Winston Graham M. , Zimering Jeffrey H. , Newman Christopher W. , Reiner Anne S. , Manalil Noel , Kharas Natasha , Gulati Amitabh , Rakesh Neal , Laufer Ilya , Bilsky Mark H. , Barzilai Ori
Published: May 2024

BACKGROUND AND OBJECTIVES:

Pain management in patients with cancer is a critical issue in oncology palliative care as clinicians aim to enhance quality of life and mitigate suffering. Most patients with cancer experience cancer-related pain, and 30%-40% of patients experience intractable pain despite maximal medical therapy. Intrathecal pain pumps (ITPs) have emerged as an option for achieving pain control in patients with cancer. Owing to the potential benefits of ITPs, we sought to study the long-term outcomes of this form of pain management at a cancer center.

METHODS:

We retrospectively reviewed medical records of all adult patients with cancer who underwent ITP placement at a tertiary comprehensive cancer center between 2013 and 2021. Baseline characteristics, preoperative and postoperative pain control, and postoperative complication rate data were collected.

RESULTS:

A total of 193 patients were included. We found that the average Numerical Rating Scale (NRS) score decreased significantly by 4.08 points (SD = 2.13, P < .01), from an average NRS of 7.38 (SD = 1.64) to an average NRS of 3.27 (SD = 1.66). Of 185 patients with preoperative and follow-up NRS pain scores, all but 9 experienced a decrease in NRS (95.1%). The median overall survival from time of pump placement was 3.62 months (95% CI: 2.73-4.54). A total of 42 adverse events in 33 patients were reported during the study period. The 1-year cumulative incidence of any complication was 15.6% (95% CI: 10.9%-21.1%) and for severe complication was 5.7% (95% CI: 3.0%-9.7%). Eleven patients required reoperation during the study period, with a 1-year cumulative incidence of 4.2% (95% CI: 2.0%-7.7%).

CONCLUSION:

Our study demonstrates that ITP implantation for the treatment of cancer-related pain is a safe and effective method of pain palliation with a low complication rate. Future prospective studies are required to determine the optimal timing of ITP implantation.
Latitudinal variation in thermal performance of the common coral Pocillopora spp.
Authors: Edmunds P. J. , Combosch D. J. , Torrado H. , Sakai K. , Sinniger F. , Burgess S. C.
Published: May 2024

Understanding how tropical corals respond to temperatures is important to evaluating their capacity to persist in a warmer future. We studied the common Pacific coral Pocillopora over 44° of latitude, and used populations at three islands with different thermal regimes to compare their responses to temperature using thermal performance curves (TPCs) for respiration and gross photosynthesis. Corals were sampled in the local autumn from Moorea, Guam and Okinawa, where mean±s.d. annual seawater temperature is 28.0±0.9°C, 28.9±0.7°C and 25.1±3.4°C, respectively. TPCs for respiration were similar among latitudes, the thermal optimum (Topt) was above the local maximum temperature at all three islands, and maximum respiration was lowest at Okinawa. TPCs for gross photosynthesis were wider, implying greater thermal eurytopy, with a higher Topt in Moorea versus Guam and Okinawa. Topt was above the maximum temperature in Moorea, but was similar to daily temperatures over 13% of the year in Okinawa and 53% of the year in Guam. There was greater annual variation in daily temperatures in Okinawa than Guam or Moorea, which translated to large variation in the supply of metabolic energy and photosynthetically fixed carbon at higher latitudes. Despite these trends, the differences in TPCs for Pocillopora spp. were not profoundly different across latitudes, reducing the likelihood that populations of these corals could better match their phenotypes to future more extreme temperatures through migration. Any such response would place a premium on high metabolic plasticity and tolerance of large seasonal variations in energy budgets.
Wavelength-specific negatively phototactic responses of the burrowing mayfly larvae Ephoron virgo
Authors: Mészáros Ádám , Kriska György , Egri Ádám
Published: May 2024

Mayflies are typically negatively phototactic during larval development, whereas the adults possess positive phototaxis. However, no extensive research has been done into the wavelength dependence of phototaxis in any mayfly larvae. We measured the repellency rate of Ephoron virgo larvae to light as a function of wavelength in the 368–743 nm spectral range. We established that the magnitude of repellence increased with decreasing wavelength and the maximal responses were elicited by 400 nm violet light. This wavelength dependence of phototaxis is similar to the recently reported spectral sensitivity of positive phototaxis of the twilight-swarming E. virgo adults. Negative phototaxis not only facilitates predation evasion: avoidance of the blue-violet spectral range could also promote the larvae to withdraw towards the river midline in the case of a drop in the water level, when the underwater light becomes enriched with shorter wavelengths as a result of the decreasing depth of overhead river water.
Effect of non-contact induction heating on HA coatings and bone cement, an ex vivo study
Authors: Kamphof Robert , Cama Dr. Giuseppe , Mesman-Vergeer Jeroen , G.H.H. Nelissen Dr. Rob , G.C.W. Pijls Dr. Bart
Published: May 2024

Background Prosthetic joint infection is a serious complication that can arise after total joint replacement surgery. When bacteria colonise an orthopaedic implant, they form biofilms that protect them from their environment, making them difficult to remove. Treatment is further complicated by a global rise of antimicrobial resistance. These protective mechanisms make treatment of prosthetic joint infection increasingly complex. Non-contact induction heating is an upcoming technology that uses heat to eradicate bacteria that are present on the surface of metallic implants. This study aims to provide insight into the feasibility of using non-contact induction heating on metallic implants that are in direct contact with other biomaterials, such as coatings composed of hydroxyapatite and bone cement composed of poly (methyl methacrylate) (PMMA). Methods Characterisation of hydroxyapatite coatings and adhesion strength tests were conducted according to standards set by the International Organisation for Standardisation (ISO 13779-2). The fixation strength of acrylic bone cement was tested according to an adapted method from ISO. Results It was found that non-contact induction heating did not significantly affect the adhesion strength of hydroxyapatite coatings (p=0.697). In contrast to hydroxyapatite coatings, acrylic bone cement softened temporarily as the temperature exceeded the glass transition temperature (83.38 ± 10.88°C). However, the induction heating temperature had no significant effect on the fixation strength after the cement was allowed to cool down (p=0.535). Conclusion This study shows the feasibility of using non-contact induction heating up to 80°C when bone cement or ceramic coatings are present in contact with infected metallic implants.
Desarrollos y perspectivas del retail: estudio bibliométrico en el periodo 2017-2023
Authors: Neme-Chaves Samir Ricardo , Forero-Molina Sara Catalina , Garzón Medina Carolina , Linero Bocanegra James Paul
Published: May 2024

La industria del retail ha tenido un crecimiento significativo tanto en el ámbito académico e investigativo como en la práctica, es considerado uno de los sectores más importantes de la economía al estar evolucionandocomo un campo de estudio independiente y autónomo. Objetivo: identificar los desarrollos y perspectivas del retail desde el análisis bibliométrico en el periodo 2017-2023 a nivel mundial, a partir de la información obtenida en la base de datos Scopus. Metodología: estudio de tipo bibliométrico, de carácter cuantitativo con tratamiento estadístico mediante el software R. Resultados principales: se identificaron 9 871 registros con una tasa anual de crecimiento de publicaciones de 8.89; el país más predominante es Estados Unidos, seguido de China. Francia es el país con mayor número de colaboraciones con autores de otras nacionalidades. Conclusiones: el sector retail se ha adaptado a las necesidades del cliente mayorista y minorista, así como a la inmediatez con que los consumidores desean satisfacer sus deseos y necesidades, por lo cual se destacan oportunidades para la academia y el sector empresarial, principalmente en lo referente al canal moderno, la inclusión de las tecnologías y la inteligencia artificial en las nuevas formas de relacionamiento con el consumidor final y los intermediarios
Sistema nervioso periférico, unión neuromuscular y músculo esquelético
Authors: Jiménez Tobón Guillermo Antonio
Published: May 2024

En este capítulo están condensados dos temas que, aunque suenen completamente no relacionados, la verdad funcionan como un continuo. Pensemos el sistema nervioso periférico como dos ríos, cada uno corriendo en sentidos opuestos y que conectan la gerencia de una empresa con una de sus subsidiarias. Para comunicarse entre ellas salen barcos cargados con paquetes. La gerencia la podemos pensar como el sistema nervioso central, los ríos como los nervios periféricos, los puertos de la subsidiaria como la unión neuromuscular y la subsidiaria como el músculo.
Más allá de la fisioterapia: biología molecular, vida diaria y técnicas de aprendizaje de la patología
Authors: Barón Salek Juliana María , Rodríguez Rodríguez Lina María , Sánchez Mondragón Yirley Andrea , Isaza López Jenny Francelly
Published: May 2024

Hemos llegado al final de nuestra travesía. Este capítulo es una respuesta a dos peticiones: la primera es ¿para qué nos puede servir la fisioterapia además de nuestro quehacer profesional? Y la segunda es ¿qué nos puede aportar el aprender patología en fisioterapia? Para responder la primera pregunta veremos dos áreas donde podemos aprovechar nuestro aprendizaje de la patología y un caso clínico donde aplicaremos nuestros conocimientos de patología. Y por último veremos algunos consejos para que aprovechen de la mejor manera su paso por patología.
Learning to Optimize Contextually Constrained Problems for Real-Time Decision Generation
Authors: Babier Aaron , Chan Timothy C. Y. , Diamant Adam , Mahmood Rafid
Published: May 2024

The topic of learning to solve optimization problems has received interest from both the operations research and machine learning communities. In this paper, we combine ideas from both fields to address the problem of learning to generate decisions to instances of optimization problems with potentially nonlinear or nonconvex constraints where the feasible set varies with contextual features. We propose a novel framework for training a generative model to produce provably optimal decisions by combining interior point methods and adversarial learning, which we further embed within an iterative data generation algorithm. To this end, we first train a classifier to learn feasibility and then train the generative model to produce optimal decisions to an optimization problem using the classifier as a regularizer. We prove that decisions generated by our model satisfy in-sample and out-of-sample optimality guarantees. Furthermore, the learning models are embedded in an active learning loop in which synthetic instances are iteratively added to the training data; this allows us to progressively generate provably tighter optimal decisions. We investigate case studies in portfolio optimization and personalized treatment design, demonstrating that our approach yields advantages over predict-then-optimize and supervised deep learning techniques, respectively. In particular, our framework is more robust to parameter estimation error compared with the predict-then-optimize paradigm and can better adapt to domain shift as compared with supervised learning models.

This paper was accepted by Chung Piaw Teo, optimization.

Funding: This work was supported in part by the Natural Sciences and Engineering Research Council of Canada.

Supplemental Material: The online appendix and data files are available at https://doi.org/10.1287/mnsc.2020.03565 .
Development of interactive learning multimedia based on Somatic, Auditory, Visual, Intellectual (SAVI) approach assisted by Articulate Storyline 3 on circular motion material
Authors: Sabila Adela Zulfa , Nana Nana , Mahmudah Ifa Rifatul
Published: May 2024

There are limited learning approaches and laboratory facilities regarding developing interactive learning multimedia for circular motion material. Therefore, this research aims to develop interactive multimedia learning based on the Somatic, Auditory, Visual, and Intellectual (SAVI) approach assisted by Articulate Storyline 3 on circular motion material. This research is a type of research and development of the ADDIE model. The respondents involved were 31 students in class XI MIPA B and XI MIPA C. Experts validated the product from media, material, and language aspects. Product validity was analyzed using the Aiken V technique. The Aiken V index scores were 0.89, 0.92, and 0.89 for assessing media, material, and language aspects. The practicality assessment resulted in an average of 96%, which shows high practicality in the learning context. In conclusion, this SAVI-based interactive multimedia has been validated by experts and is well received by students. So, it has proven to be very suitable for effective learning at Darussalam Rajapolah Integrated High School, Tasikmalaya. This research implies that the development of interactive learning multimedia based on the Somatic, Auditory, Visual, and Intellectual (SAVI) approach assisted by Articulate Storyline 3 on circular motion material can be a solution to overcome the limitations of traditional learning approaches and laboratory facilities in teaching the concept of circular motion.
Bouncing your way to labour and birth using biomechanics and fetal optimal positioning
Authors: Lennon Roisin
Published: May 2024

Background/Aims

‘Labour hopscotch’ is a visual tool that encourages activity during pregnancy and childbirth. It has been used in one advanced midwife practitioner service since 2017 and more widely across in Ireland since 2020. The biomechanics for birth toolkit was added to advanced midwife practitioner care in 2022. This study's aim was to ascertain if the biomechanics for birth toolkit impacted gestation of spontaneous onset of labour rates and birth outcomes.

Methods

A retrospective study of onset of labour and birth outcomes was conducted for women before (n=155) and after (n=154) the biomechanics for birth toolkit was incorporated into care.

Results

Before the toolkit was included, there was a 57.2% spontaneous onset of labour rate, with 33.2% birthing before 41 weeks. After the kit's inclusion, there was a 72.2% spontaneous onset of labour, with 91.8% birthing before 41 weeks. Induction rates dropped from 42.8% to 27.8%, with emergency caesarean section rates following induction dropping from 33.1% to 23.8%.

Conclusions

Using the biomechanics for birth toolkit alongside the labour hopscotch tool could increase spontaneous onset of labour rates, optimise physiological birth, reduce inductions and emergency caesarean section following induction.
Qualitative service evaluation of a rural midwife-led ultrasound service: listening to women
Authors: Jones Lynn
Published: May 2024

Background/Aims

Patient experience is needed to understand if a service is meeting the needs of the population it serves. In rural areas, accessing maternity services can be challenging for women. Local provision should be explored and consistently reviewed to adapt to changing social requirements and expectations. The aim of this study was to examine a rural midwifery-led ultrasound service 5 years after implementation and post COVID-19, to ascertain if the service provides a positive service user experience.

Methods

A qualitative service evaluation was carried out using semi-structured interviews with four service users. Data were analysed using content analysis.

Results

Positive aspects of the service included continuity of care, communication, time to care, financial benefits and inclusivity in care and care decisions. It was noted that the ultrasound service was in the opposite direction from their homes to the obstetric service if participants needed to be referred for consultant opinion the same day. The significant underlying theme was the positive impact on mental wellbeing and patient experience in pregnancy when attending the service.

Conclusions

There was a high level of satisfaction with the service. Engagement of a broader spectrum of women would provide deeper insight into the service and robust evidence for any service development.
Hybrid deep learning and optimal graph search method for optical coherence tomography layer segmentation in diseases affecting the optic nerve
Authors: Chen Zhi , Zhang Honghai , Linton Edward F. , Johnson Brett A. , Choi Yun Jae , Kupersmith Mark J. , Sonka Milan , Garvin Mona K. , Kardon Randy H. , Wang Jui-Kai
Published: May 2024

Accurate segmentation of retinal layers in optical coherence tomography
(OCT) images is critical for assessing diseases that affect the optic
nerve, but existing automated algorithms often fail when pathology
causes irregular layer topology, such as extreme thinning of the
ganglion cell-inner plexiform layer (GCIPL). Deep LOGISMOS, a hybrid
approach that combines the strengths of deep learning and 3D graph
search to overcome their limitations, was developed to improve the
accuracy, robustness and generalizability of retinal layer
segmentation. The method was trained on 124 OCT volumes from both eyes
of 31 non-arteritic anterior ischemic optic neuropathy (NAION)
patients and tested on three cross-sectional datasets with available
reference tracings: Test-NAION (40 volumes from both eyes of 20 NAION
subjects), Test-G (29 volumes from 29 glaucoma subjects/eyes), and
Test-JHU (35 volumes from 21 multiple sclerosis and 14 control
subjects/eyes) and one longitudinal dataset without reference
tracings: Test-G-L (155 volumes from 15 glaucoma patients/eyes). In
the three test datasets with reference tracings (Test-NAION, Test-G,
and Test-JHU), Deep LOGISMOS achieved very high Dice similarity
coefficients (%) on GCIPL: 89.97±3.59,
90.63±2.56, and 94.06±1.76, respectively. In the same
context, Deep LOGISMOS outperformed the Iowa reference algorithms by
improving the Dice score by 17.5, 5.4, and 7.5, and also surpassed the
deep learning framework nnU-Net with improvements of 4.4, 3.7, and
1.0. For the 15 severe glaucoma eyes with marked GCIPL thinning
(Test-G-L), it demonstrated reliable regional GCIPL thickness
measurement over five years. The proposed Deep LOGISMOS approach has
potential to enhance precise quantification of retinal structures,
aiding diagnosis and treatment management of optic nerve diseases.
Cross-modal attention network for retinal disease classification based on multi-modal images
Authors: Liu Zirong , Hu Yan , Qiu Zhongxi , Niu Yanyan , Zhou Dan , Li Xiaoling , Shen Junyong , Jiang Hongyang , Li Heng , Liu Jiang
Published: May 2024

Multi-modal eye disease screening improves diagnostic accuracy by providing lesion information from different sources. However, existing multi-modal automatic diagnosis methods tend to focus on the specificity of modalities and ignore the spatial correlation of images. This paper proposes a novel cross-modal retinal disease diagnosis network (CRD-Net) that digs out the relevant features from modal images aided for multiple retinal disease diagnosis. Specifically, our model introduces a cross-modal attention (CMA) module to query and adaptively pay attention to the relevant features of the lesion in the different modal images. In addition, we also propose multiple loss functions to fuse features with modality correlation and train a multi-modal retinal image classification network to achieve a more accurate diagnosis. Experimental evaluation on three publicly available datasets shows that our CRD-Net outperforms existing single-modal and multi-modal methods, demonstrating its superior performance.
Correlations of light scattering properties in human skin with the person’s age assessed using a non-invasive technique
Authors: Golmajer Zima Neža , Verdel Nina , Majaron Boris
Published: May 2024

We analyze the influence of a person’s age on the thicknesses and reduced scattering coefficients of the epidermis and dermis in visible part of the spectrum. Their values were assessed using a non-invasive technique which combines pulsed photothermal radiometry and diffuse reflectance spectroscopy with Monte Carlo modeling of light transport in a four-layer model of skin. The analysis is affected by the strong influences of the melanin content on the reduced scattering coefficient of the epidermis, aepi, and blood content in the case of dermis (ader). Separating their contributions reveals a significant decrease of ader with the person’s age at an average rate of –0.25 mm–1 per decade, while the contribution of blood in the papillary dermis amounts to 1.0 mm–1%–1. Meanwhile, no influence of the person’s age was found on aepi and the thicknesses of the epidermis or dermis.
Enhancing secret key distribution through advanced color modulation in visible light communication
Authors: Figueiredo Gonçalo , Ferreira Rute A. S. , André Paulo S.
Published: May 2024

Visible light communication (VLC) has emerged as a dynamic area of research poised to revolutionize high-speed wireless communication. VLC technology uses light-emitting diodes (LEDs) within existing infrastructure to emit light within the visible spectrum. VLC complements traditional radio frequency (RF) communications, addressing its inherent limitations and drawbacks. To navigate the demands of modern urban environments, VLC systems must prioritize secure data transmission, accessibility, and economic feasibility, particularly within the framework of smart cities. We introduce what is to our knowledge a novel privacy-enhanced VLC system for optical wireless communication. Leveraging color data modulation techniques and the intricacies of a hyperchaotic three-dimensional map, this innovative approach ensures robust security. By employing diverse LED colors for data transmission and exploiting the unpredictable mathematical properties of hyperchaotic maps, enhanced privacy is achieved. The performance of the proposed system was rigorously evaluated through various tests, manipulating initial control parameters of the encryption process with the hyperchaotic map, as well as adjusting message length and content. Tests were conducted over a 1 m connection distance at a symbol transmission rate of 2 baud. Remarkably, the proposed system demonstrated high accuracy in message recovery, achieving a symbol error rate (SER) of only 0.02 at an incident optical power of 22 µW. We highlight the critical importance of precise decryption parameter values in the proposed method, demonstrating the necessity for accuracy within the range of 10−15 for each decryption parameter; it underscores the indispensability of meticulous parameter calibration to ensure the correct decryption of transmitted symbols. These results pave the way for applications where absolute security is imperative, particularly in smart city environments, such as for key distribution purposes.
Multi-channel broadband optical chaos generation assisted by phase modulation and CFBG feedback
Authors: Zhang Qiao , Jiang Lin , Sun Jihui , Pan Yan , Feng Jiacheng , Yi Anlin , Pan Wei , Xu Bingjie , Yan Lianshan
Published: May 2024

In this paper, we propose a novel and simple multi-channel broadband optical chaos generation scheme based on phase modulation and chirped fiber Bragg grating (CFBG). Firstly, phase modulation is introduced to generate more new frequency components to broaden the spectrum of the phase chaos. Meanwhile, the accumulated dispersion from CFBG distorts the intensity chaos, converts phase chaos to intensity chaos, and weakens the laser relaxation oscillation. This process would lead to energy redistribution in the power spectrum, effectively increasing the chaotic bandwidth. Then, the wavelength detuning between CFBG and the semiconductor laser is introduced to enhance the chaotic bandwidth further. The experiment results show that the 10 dB bandwidths of the five channels are up to 31.0 GHz, 34.3 GHz, 36.3 GHz, 40 GHz, and 40 GHz, respectively. Note that the maximum bandwidth of the PD in our experiment is limited to 40 GHz. In addition, the multi-channel chaotic signals obtained from the experiment system are used to generate multi-channel physical random numbers. After the post-processing operations, the total rate of five parallel high-speed physical random number generation channels is 4.64 Tbit/s (160 GSa/s × 5bit × 1 channel + 160 GSa/s × 6bit × 4 channels). As far as we know, this is the highest record of using external cavity feedback semiconductor lasers to generate random numbers, which has great potential to meet the security requirements of next-generation Tbit/s optical communication systems.
Comparison of holographic recording options for reflection-format and transmission-format coupler-type diffractive optical elements: theoretical exploration and experimental validation
Authors: Chakraborty Dipanjan , Georgiev Rosen , Toal Vincent , Naydenova Izabela , Cody Dervil , Martin Suzanne
Published: May 2024

The holographic recording of gratings that have very large diffraction angles and/or slants is challenging because recording requires beam angles that are not possible without the use of prisms. However, by using a recording wavelength that is different from (usually shorter than) the intended operating wavelength, it is possible to record with less challenging beam angles. In this paper, a recently developed model that allows systematic investigation of the potential and limits of this wavelength-shift recording technique is extended to include a reflection format. Transmission and reflection recording options are compared systematically for the first time, and it is shown that in reflection recording, some couplers can be recorded more easily when the recording wavelength is longer than the operating wavelength. This opens up new design options for previously challenging regions of the spectrum. Experimental validation of the reflection version of the model is carried out by holographic recording in reflection mode at 532 nm in Bayfol HX 200 photopolymer, demonstrating the coupling of blue light.
Single-etched fiber-chip coupler with a metal mirror on a 220-nm silicon-on-insulator platform for perfectly vertical coupling
Authors: Wang Lihang , Qiu Jifang , Dong Zhenli , Chen Yuchen , Wu Lan , Guo Hongxiang , Wu Jian
Published: May 2024

Vertical couplers play a pivotal role as essential components supporting interconnections between fibers and photonic integrated circuits (PICs). In this study, we propose and demonstrate a high-performance perfectly vertical coupler based on a three-stage inverse design method, realized through a single full etching process on a 220-nm silicon-on-insulator (SOI) platform with a backside metal mirror. Under surface-normal fiber placement, experimental results indicate a remarkable 3-dB bandwidth of 99 nm with a peak coupling efficiency of −1.44 dB at the wavelength of 1549 nm. This achievement represents the best record to date, to the best of our knowledge, for a perfectly vertical coupler fabricated under similar process conditions.
Inverse-designed integrated biosensors
Authors: Didari-Bader Azadeh , Pelton Sophie , Mohammadi Estakhri Nasim
Published: May 2024

We propose a refractive index sensor in a silicon-on-insulator (SOI) platform inspired by the operation of multimode fiber sensors. The sensor utilizes an optimized SOI resonator through adjoint-based inverse design topology optimization. The device’s refractive index distribution is calculated with a suitable figure of merit tailored for telecommunication band operation (1450 nm to 1650 nm) and is compatible with the standard fabrication processes. The flexibility of design offered through topology optimization and the localized interactions of the wave around the metastructure can be tailored to achieve maximum sensitivity. Our results may find interesting applications in wearable technologies, biosensing, and environmental monitoring.
Low-loss nanoscale zero-index metawaveguides and metadevices
Authors: Dong Tian , Dai Tianxiang , Chen Ye , Liu Yueyang , Liu Hancheng , Wang Yiting , Ma Anqi , Hu Haifeng , Xu Lihua , Zhao Le , Chu Weiguo , Peng Chao , Wang Jianwei , Li Yang
Published: May 2024

Zero-index metamaterials exhibit a uniform spatial phase distribution,
promising numerous applications such as efficient electromagnetic
tunneling and high-fidelity optical computing. These applications
necessitate an integrated, low-loss zero-index waveguide platform for
guiding, routing, and interfering light. Nevertheless, existing
zero-index metamaterials grapple with substantial footprints, high
losses, and limited flexibility. Here, we present low-loss nanoscale
zero-index metawaveguides enabled by quasi-bound states in the
continuum, formed through destructive interferences along in-plane and
out-of-plane directions. This metawaveguide’s propagation loss is 2
orders of magnitude lower than that of the state-of-the-art zero-index
waveguide. Leveraging the low loss and flexibility of this
metawaveguide, we realized a zero-index metaring for the first time.
This low-loss zero-index metawaveguide offers a versatile platform for
integrated photonic circuits with minimal phase errors for classical
and quantum information processing.
Geteiltes Wissen, gestärkte Resilienz: Informationsaustausch über Cyberbedrohungen gemäß Art. 45 DORA
Authors: Waschbusch Gerd , Schlenker Ben
Published: May 2024

Die zunehmende Bedrohung durch Cyberangriffe stellt insbesondere die Finanzbranche vor große Herausforderungen. Der ab dem 17. Januar 2025 geltende Digital Operational Resilience Act (DORA) verpflichtet Finanzunternehmen in der EU daher zu einem umfassenden Management von IKT-Risiken, um ihre digitale operationale Resilienz zu stärken. Der Austausch von Informationen und Erkenntnissen über Cyberbedrohungen, insbesondere sogenannter Threat Intelligence, spielt eine zentrale Rolle beim Schutz vor Cyberangriffen. Der DORA fördert deshalb den europaweiten Informationsaustausch zwischen Finanzunternehmen durch die erstmalige Schaffung eines einheitlichen gesetzlichen Rahmens. Bisher findet ein solcher Austausch hauptsächlich auf nationaler Ebene statt. Dieser Beitrag beleuchtet den regulatorischen Rahmen für den Austausch von Informationen und Erkenntnissen über Cyberbedrohungen gemäß DORA. Berücksichtigt werden dabei insbesondere Interdependenzen zu dem Recht zum Schutz von Geschäftsgeheimnissen, dem Datenschutzrecht und dem Wettbewerbsrecht. Darüber hinaus werden bestehende Kooperationsformen vorgestellt, wie die Allianz für Cybersicherheit, der Verein Cyber Security Sharing and Analytics, die European Cloud User Coalition und die TIBER-DE Community.
“We all think boots are meant for men”: A community-based participatory assessment of rural women’s barriers to preventing podoconiosis in Rwanda
Authors: Igihozo Gloria , Dusabe Leila , Uwizeyimana Jeanne , Nyiransabimana Esperance , Huston Tonya , Schurer Janna M.
Published: May 2024

Podoconiosis is a debilitating neglected tropical disease (NTD) that is possibly caused by prolonged exposure to irritant alkaline clay soil. It is endemic to East Africa and disproportionately affects rural female farmers. The condition can be prevented through foot hygiene and regular wearing of protective shoes. In Rwanda, there is limited information on the factors impacting rural female farmers’ access to and utilization of boots while farming. Therefore, this community-based participatory study was conducted to explore the cultural, economic, and ergonomic factors affecting rural farmers’ use of protective footwear. Sixteen audio-recorded focus group discussions were conducted with female and male farmers in four villages with the highest podoconiosis prevalence across four provinces of Rwanda. Transcripts were coded inductively using Dedoose (version 9.0.86) and analyzed through thematic content analysis. Participants expressed that wearing shoes protects against diseases and injuries but ability to afford a pair of protective footwear was a major barrier to accessing and wearing them. There were differences in women and men’s shoe-wearing behaviors while farming, largely driven by the fact that women who wear boots face rumors and backlash. Findings highlight barriers hindering effective podoconiosis prevention among rural female farmers in Rwanda. Opportunities exist to strengthen podoconiosis and NTD prevention programs, through the integration of gender into existing community-based interventions and the inclusion of local communities into the co-designing of contextualized interventions.
Exploring the fragmentation efficiency of proteins analyzed by MALDI-TOF-TOF tandem mass spectrometry using computational and statistical analyses
Authors: Park Jihyun , Fagerquist Clifton K.
Published: May 2024

Matrix-assisted laser desorption/ionization time-of-flight-time-of-flight (MALDI-TOF-TOF) tandem mass spectrometry (MS/MS) is a rapid technique for identifying intact proteins from unfractionated mixtures by top-down proteomic analysis. MS/MS allows isolation of specific intact protein ions prior to fragmentation, allowing fragment ion attribution to a specific precursor ion. However, the fragmentation efficiency of mature, intact protein ions by MS/MS post-source decay (PSD) varies widely, and the biochemical and structural factors of the protein that contribute to it are poorly understood. With the advent of protein structure prediction algorithms such as Alphafold2, we have wider access to protein structures for which no crystal structure exists. In this work, we use a statistical approach to explore the properties of bacterial proteins that can affect their gas phase dissociation via PSD. We extract various protein properties from Alphafold2 predictions and analyze their effect on fragmentation efficiency. Our results show that the fragmentation efficiency from cleavage of the polypeptide backbone on the C-terminal side of glutamic acid (E) and asparagine (N) residues were nearly equal. In addition, we found that the rearrangement and cleavage on the C-terminal side of aspartic acid (D) residues that result from the aspartic acid effect (AAE) were higher than for E- and N-residues. From residue interaction network analysis, we identified several local centrality measures and discussed their implications regarding the AAE. We also confirmed the selective cleavage of the backbone at D-proline bonds in proteins and further extend it to N-proline bonds. Finally, we note an enhancement of the AAE mechanism when the residue on the C-terminal side of D-, E- and N-residues is glycine. To the best of our knowledge, this is the first report of this phenomenon. Our study demonstrates the value of using statistical analyses of protein sequences and their predicted structures to better understand the fragmentation of the intact protein ions in the gas phase.
Early feasibility study with an implantable near-infrared spectroscopy sensor for glucose, ketones, lactate and ethanol
Authors: De Ridder Francesca , Braspenning Rie , Ordonez Juan S. , Klarenbeek Gijs , Lauwers Patrick , Ledeganck Kristien J. , Delbeke Danaë , De Block Christophe
Published: May 2024

Objective

To evaluate the safety and performance of an implantable near-infrared (NIR) spectroscopy sensor for multi-metabolite monitoring of glucose, ketones, lactate, and ethanol.

Research design and methods

This is an early feasibility study (GLOW, NCT04782934) including 7 participants (4 with type 1 diabetes (T1D), 3 healthy volunteers) in whom the YANG NIR spectroscopy sensor (Indigo) was implanted for 28 days. Metabolic challenges were used to vary glucose levels (40–400 mg/dL, 2.2–22.2 mmol/L) and/or induce increases in ketones (ketone drink, up to 3.5 mM), lactate (exercise bike, up to 13 mM) and ethanol (4–8 alcoholic beverages, 40-80g). NIR spectra for glucose, ketones, lactate, and ethanol levels analyzed with partial least squares regression were compared with blood values for glucose (Biosen EKF), ketones and lactate (GlucoMen LX Plus), and breath ethanol levels (ACE II Breathalyzer). The effect of potential confounders on glucose measurements (paracetamol, aspartame, acetylsalicylic acid, ibuprofen, sorbitol, caffeine, fructose, vitamin C) was investigated in T1D participants.

Results

The implanted YANG sensor was safe and well tolerated and did not cause any infectious or wound healing complications. Six out 7 sensors remained fully operational over the entire study period. Glucose measurements were sufficiently accurate (overall mean absolute (relative) difference MARD of 7.4%, MAD 8.8 mg/dl) without significant impact of confounders. MAD values were 0.12 mM for ketones, 0.16 mM for lactate, and 0.18 mM for ethanol.

Conclusions

The first implantable multi-biomarker sensor was shown to be well tolerated and produce accurate measurements of glucose, ketones, lactate, and ethanol.

Trial registration

Clinical trial identifier: NCT04782934.