Digital Commons Network^™

Ultrasound-Assisted Enzymatic Extraction And Structural Characterization Of Pectin From The Tender Leaves Of Abelia Macrotera, Mao Qiqi, Luo Yang, Wang Jianglin, Luo Jie, Fan Xiankang, Liu Chengguo, Zhou Hui

Food and Machinery

［Objective］ To clarify the physicochemical properties,microscopic structure,monosaccharide composition,relative molecular mass,and structural characteristics of pectin in the tender leaves of Abelia macrotera.［Methods］ Pectin from the tender leaves of Abelia macrotera was extracted by ultrasound -assisted cellulase method.The microscopic structure was observed under scanning electron microscope.The monosaccharide composition was determined by high performance liquid chromatography.The relative molecular mass was determined by polysaccharide hydrolysis derivatization.The possible structure was inferred by infrared spectroscopy.［Results］］ The yield of pectin from the tender leaves of Abelia macrotera is 23.38%,the esterification degree was 1.17%,and the galacturonic acid content was 72.16%.The pectin is in the form of flakes with …

Online Detection Of Tomato Internal And External Quality Based On Iot And Machine Learning, Gao Yanfei, Xu Xuefeng, Huang Yu, Zhao Xiaofei

Food and Machinery

［Objective］ To address the low efficiency and strong subjectivity of traditional manual tomato grading,this study developed an online tomato internal and external quality detection and grading system based on the Internet of Things (IoT) and machine learning technologies,enabling real -time,non -destructive detection of both internal and external quality attributes.［Methods］ By integrating machine vision and near -infrared spectroscopy,and leveraging IoT and machine learning algorithms,a comprehensive system for online,non-destructive tomato detection and grading was designed and implemented.Real -time acquisition of external images and internal spectral information of tomatoes was performed.External defects,shape index,and diameter were detected using deep learning models,while soluble solids content …

Effects Of Electron Beam Irradiation On Carotenoids And Capsaicinoids In Pepper Oils Prepared By Different Plant Oils, Ouyang Mengyun, Li Wenge, Cao Sheng, Mo Mo, Zhou Yiji, Zhang Qiling, Xu Yuanfang

Food and Machinery

［Objective］ To investigate the irradiation stability of carotenoids and capsaicinoids in pepper oils prepared using different plant oils.［Methods］ With rapeseed oil (RO),soybean oil (SO),and their blended oil (RSO ) as materials,pepper oils RO -P,SO-P,and RSO -P were prepared,and subjected to high -energy electron beam irradiation (10 MeV ).The effects of different irradiation doses (4~12 kGy ) on the peroxide value (PV),acid value (AV),carotenoid content,and capsaicinoid content of the pepper oils were investigated.［Results］］ Electron beam irradiation promoted lipid oxidation in the pepper oils,resulting in increased PV and AV values,with SO -P exhibiting the highest degree of lipid oxidation.When the irradiation dose …

Optimization Of Sulfur-Free Color Protection Process And Comparison Of Drying Techniques For Honeysuckle, Zhai Yumei, Tang Xiaojuan, Fu Xiao, Gong Min, Liu Yunguo

Food and Machinery

［Objective］ To develop green processing technology to inhibit the browning of fresh honeysuckle (Lonicera japonica Thunb ) and enhance its drying quality.［Methods］ With polyphenol oxidase relative enzyme activity and color difference values as evaluation indicators,the process of sulfur -free compound color -protecting agents (citric acid,D-sodium erythorbate,and DL-sodium malate ) is optimized through response surface methodology.Additionally,the effect of various drying methods,including vacuum freeze drying and microwave drying,on the quality after color protection is compared and analyzed.［Results］］ Citric acid demonstrates the best anti -browning effect.The process parameters are optimal when citric acid concentration is 0.105 mol/L,with D-sodium erythorbate concentration of 0.124 mol/L …

Protective Effects Of Lactobacillus Rhamnosus Cqfp 202412 On The Brain , Intestines , And Motor Functions Of Antibiotic-Damaged Mice, Cheng Bo, Li Chong, Meng Xianlu

Food and Machinery

［Objective］ To explore the effects of Lactobacillus rhamnosus CQFP 202412 on improving the intestinal barrier,liver,brain neurons,and motor function in mice through its antioxidant and anti -inflammatory activities.［Methods］ A mouse model was established by intraperitoneal injection of a mixed antibiotic solution (neomycin 5 mg/mL,vancomycin 25 mg/mL,amphotericin B 0.1 mg/mL,ampicillin 10 mg/mL,metronidazole 5 mg/mL,and lipopolysaccharide 1.5 μg/mL ),followed by intervention with L.rhamnosus CQFP 202412.After the intervention,weight -loaded swimming time and running exhaustion time were measured,along with liver index and oxidative stress/inflammatory markers in serum and brain tissue.Histopathological changes in the brain were observed by HE staining,and PCR was used to detect the …

Effect Of Polygonatum Sibiricum Powder On Properties Of Dough And Quality Of Bread, Wu Kunwei, Wei Ming, Qian Senhe, Li Ziman, Xie Yan

Food and Machinery

［Objective］ To explore the application of Polygonatum sibiricum powder in bread,enhancing its health benefits.［Methods］ Polygonatum powder is added to wheat flour to study its effects on starch gelatinization,gluten structure,dough rheological properties,and bread baking quality.［Results］］ The addition of Polygonatum powder increases the gelatinization temperature of the flour,while peak viscosity and retrogradation values decrease.The gluten yield in the dough is reduced.Changes in the secondary structure of gluten proteins are observed,with an increase in the content of random coil structures.Polygonatum sibiricum powder increases dough hardness,elasticity modulus,and viscosity modulus,but it reduces the dough's fermentation volume.The baking quality of the bread is affected,with the bread …

Ultrasound-Assisted Extraction Of Total Flavonoids From Zanthoxylum Bungeanum Maxim . Leaves With Deep Eutectic Solvents And Their Antioxidant Activity Evaluation, Sun Wei, Gu Qingyi, Zhai Bingqian, Ye Run, Cai Jing, Qiao Xinrong

Food and Machinery

［Objective］ To investigate the effect of deep eutectic solvent (DES ) on the extraction rate of total flavonoids from Zanthoxylum bungeanum Maxim.leaves and analyze their antioxidant activity.［Methods］ Using Z.bungeanum leaves as raw material and total flavonoid extraction rate as the evaluation index,this study performs ultrasound -assisted extraction to screen the optimal DES system.The scavenging capacities of the extracted total flavonoids against hydroxyl radicals (·OH) and DPPH radicals are determined.［Results］］ The highest extraction rate of total flavonoids is achieved using a choline chloride -ethylene glycol DES system (ncholine chloride ∶nethylene glycol =1∶3) with 22% water content,a solid -to-liquid ratio (mZ.bungeanum powder∶Vsolvent …

Progress In The Application Of Molecularly Imprinted Electrochemical Sensors In The Detection Of Veterinary Drug Residues, Han Yanrong, Chen Yanrong, Wang Chenyu, Kuang Yishan, Zhang Bo

Food and Machinery

Veterinary drugs play a crucial role in ensuring the healthy development of the livestock industry.However,improper or excessive use of veterinary drugs may pose threats to the environment and human health.To achieve effective monitoring of veterinary drug residues,various detection technologies have emerged.Among them,molecularly imprinted electrochemical sensors (MIECSs ) combines the high recognition specificity of molecularly imprinted polymers (MIPs ) with the rapid and sensitive advantages of electrochemical analysis,becoming a powerful tools in the detection of veterinary drug residues and demonstrating great application potential.However,its transition to large -scale application still faces many challenges.This article systematically reviews the progress in the application of …

Research Progress On Nanomaterials In Food Preservation And Packaging, Zhou Huang, Peng Weifu, Guo Qi, Zhou Ningping

Food and Machinery

Nanomaterials,distinguished by their exceptional antimicrobial properties,mechanical performance,stability,and intelligent monitoring functions,have long driven innovation in food packaging and are regarded as promising alternatives to traditional food packaging and preservation materials.This review systematically discusses the application of nanomaterials in food safety and preservation packaging,with a focus on recent advances,the current status of integrated technology applications,and the technological bottlenecks encountered.It also highlights the limitations of current research and looks ahead to the future direction of nanotechnology in food packaging.

Advances In The Application Of Machine Learning To Food Nutrition And Health, Zhou Xin, Li Dapeng

Food and Machinery

A balanced diet is fundamental to maintaining human health and preventing or reducing the risk of chronic non -communicable diseases.Efficient and accurate analysis of nutritional and functional components in food,followed by the provision of personalized nutritional guidance,is a research hotspot in the field of food nutrition and health.This article reviews the research progress on artificial intelligence technologies,such as machine learning,in the analysis of food nutritional components,functional component analysis and screening,and personalized nutrition,and highlights the pressing issues that need to be addressed in this field.

Effects Of Drying Conditions On The Forming Process , Structure , And Properties Of Konjac Glucomannan-Based Emulsion Films, Liu Yi, Zhu Jingyu, Cheng Yuhang, Yu Xiang, Jiang Fatang

Food and Machinery

［Objective］ To investigate the mechanism by which lipid distribution induced by drying conditions affects the structure and physicochemical properties of konjac glucomannan -based emulsion films.［Methods］ A film -forming emulsion composed of konjac glucomannan,pectin,and basil essential oil (K-P-OG) was prepared.The effects of different drying temperatures (25 ℃,30 ℃,35 ℃,and 40 ℃) on the physicochemical properties of K -P-OG films were examined.The droplet morphology and water distribution during the film -forming process were tracked using confocal laser scanning microscopy (CLSM ),scanning electron microscopy (SEM ),and low -field nuclear magnetic resonance (LF-NMR ).A rheometer was used to analyze the interactions among components within …

Unveiling The Clinicopathological Outcomes Of Breast Cancer In Young Women: A Perspective From Resource-Limited Settings, Kulsoom Shaikh, Aiman Arif, Mehwish Mooghal, Lubna Vohra

Sultan Qaboos University Medical Journal

Objectives: This study aimed to assess the incidence of breast cancer in young women over a ten-year period and examine its association with clinical characteristics, risk factors, treatment modalities, and survival outcomes. Methods: A retrospective analysis of the Breast Cancer Registry at our institution was conducted. Of the 2,238 women diagnosed with breast cancer between 2012 and 2021, 535 (23.9%) were aged 40 years or younger at the time of diagnosis. Cases with missing data for independent variables were excluded from the respective analyses. Results: The mean age at diagnosis was 34.5 years (range: 15–40). The most common clinical …

Cilia In The Brain Display Region-Dependent Oscillations Of Length And Orientation, Roudabeh Vakil Monfared, Sherif Abdelkarim, Pieter Derdeyn, Kiki Chen, Hanting Wu, Kenneth Leong, Tiffany Chang, Justine Lee, Sara Versales, Surya M. Nauli, Kevin Beier, Pierre Baldi, Amal Alachkar

Pharmacy Faculty Articles and Research

In this study, we conducted high-throughput spatiotemporal analysis of primary cilia length and orientation across 22 mouse brain regions. We developed automated image analysis algorithms, which enabled us to examine over 10 million individual cilia, generating the largest spatiotemporal atlas of cilia. We found that cilia length and orientation display substantial variations across different brain regions and exhibit fluctuations over a 24-h period, with region-specific peaks during light-dark phases. Our analysis revealed unique orientation patterns of cilia, suggesting that cilia orientation within the brain is not random but follows specific patterns. Using BioCycle, we identified rhythmic fluctuations in cilia length …

Oral Dosing Of The Nucleoside Analog Obeldesivir Is Efficacious Against Rsv Infection In African Green Monkeys, Jared Pitts, J Lizbeth Reyes Zamora, Savrina Manhas, Thomas Aeschbacher, Josolyn Chan, Vincent Cutillas, Varsha Nair, Nicholas C Riola, Arya Vijjapurapu, Meghan S Vermillion, Stacey Eng, Christopher Richards, Dong Han, Jason K Perry, Subhra Chaudhuri, Szu-Wen Liu, Clarissa Martinez, Nadine Peinovich, Kai-Hui Sun, Arthur Cai, Ross Martin, Jasmine Moshiri, Charlotte Hedskog, Darius Babusis, Dustin S Siegel, Rao Kalla, Vasanthi Avadhanula, Pedro A Piedra, Kim Stobbelaar, Peter L Delputte, Caleb Marceau, Roberto Mateo, Evguenia Maiorova, Hongmei Mo, Raju Subramanian, Richard L Mackman, Tomas Cihlar, Simon P Fletcher, John P Bilello

Faculty, Staff and Students Publications

Respiratory syncytial virus (RSV) is a significant cause of morbidity and mortality in high-risk populations. Although prophylactic options are available, there are no effective oral therapeutics for RSV infection. Obeldesivir (ODV) is an orally bioavailable prodrug of the nucleoside analog GS-441524, which is converted intracellularly to its active nucleoside triphosphate and inhibits the RSV RNA polymerase. Here we report the potent antiviral activity of ODV against geographically and temporally diverse RSV A and B clinical isolates (EC50: 0.20–0.66 μM). Resistance selection studies with ODV and GS-441524 against RSV identify a single amino acid substitution, I777L, in the L polymerase with …

Occurrence Of Pesticides In Oregon Coastal Waters And Effects On The Intertidal Sea Anemone, Anthopleura Elegantissima, Gabriella Mae Bleil

Dissertations and Theses

Pesticides are used globally for a wide range of applications including agricultural, forestry, roadsides, freshwater systems, and personal use. While pesticides have ensured efficient crop production, they are frequently transported away from application sites and are ubiquitous in terrestrial and aquatic environments. Pesticides are often detected in watersheds and rivers globally, which can have unintentional toxic effects on non-target organisms by interfering with cellular processes, behavior, feeding, reproduction, and disrupting endocrine processes. The aggregating anemone, Anthopleura elegantissima, is an important species along the North American Pacific coast due to its symbiotic relationships that contribute to high productivity, and its …

Antibiotic Use In Rural Kenyan Livestock: Navigating Misuse, Experience Gaps And Amr Risks, Lucy Obolensky, Esbon Wambugu, Edna Kubai, Iain Doig, Miriam Beattie, Michael Dillon

Peninsula Medical School

Antimicrobial resistance (AMR) is an escalating global health threat, with the greatest risk observed in low- to middle-income countries, particularly in the global south. The World Health Organization advocates for a One Health approach to address AMR, promoting collaboration across sectors, including in agriculture. This study aims to enhance understanding of antimicrobial use and stewardship in livestock within pastoralist communities in northern Kenya, where there is limited information. The study employed a qualitative approach, using semi-structured interviews to gather data on farming practices and antibiotic use. Interviews were conducted by trained volunteers proficient in Swahili and Ma (a Maasai language), …

A Learning Plan On The Understanding Of The Philippine Disaster Risk, Ermor Francisco-Martizano

Annual Research Congress for High School and Elementary Teachers, Researchers, and Scholars (ARCHERS)

This learning plan is designed to foster a deeper understanding of Disaster Readiness and Risk

Reduction in the Philippines. The following objectives are set to be accomplished by the end of the lesson:

A. identify the various types of disasters and their respective characteristics;

B. comprehend the risk factors associated with different types of disaster;

C. apply principles of disaster readiness and response;

D. explain the Sustainable Development Goals connected to the Philippine Disaster Risk.

These goals are aligned with the 11th Sustainable Development Goal, which aims to make cities and human

settlements inclusive, safe, resilient and sustainable and the …

A Learning Plan On The Understanding Of Abo Blood Group Compatibility, Ermor Francisco-Martizano

Annual Research Congress for High School and Elementary Teachers, Researchers, and Scholars (ARCHERS)

This learning plan is designed to gain a better understanding of ABO blood group compatibility, including how blood types are determined, their importance, and how they affect blood transfusions and organ transplants. The following objectives outline the specific objectives to be accomplished by the end of the lesson:

A. identify the different blood types and their characteristics;

B. understand the importance of ABO blood group compatibility in blood transfusions and organ transplants;

C. enumerate the consequences of incompatible blood transfusions and organ transplants;

D. demonstrate blood typing techniques to know ABO blood compatibility.

The goals above are aligned with the …

Bridging Prairie Restoration And Regenerative Agriculture With Compost Tea, April Hersey

2025 Symposium

Inland Pacific Northwest prairie is an endangered ecosystem that has been reduced by conversion to agriculture. There is growing interest in the role of soil microorganisms in prairie ecosystems, which may be crucial for restoration of the plant community through interspecies interactions within the soil near plant roots. One method for improving soil microorganism community composition is compost tea: enriched liquid compost extract. Compost tea is used in regenerative agriculture to improve crop yields and protect against pathogens, ostensibly through the activity of the added compost microbes. While research has supported compost tea application in regenerative agriculture, it has not …

Niche Conservatism And Sympatric Parallel Evolution May Help To Maintain Eight Nascent Tree Taxa Along A Sharp Elevation Gradient, Elizabeth A. Stacy, Rebecca Ostertag

Life Sciences Faculty Research

1. Patterns of niche partitioning among closely related taxa, such as those in incipient adaptive radiations, can provide clues into how niches are created, partitioned, and integrated over ecological and evolutionary time scales. Hawaiian Metrosideros is a ~3-MYO adaptive radiation of trees that dominates the Hawaiian Islands in continuous stands within islands and allows examination of niche partitioning at the early stages of adaptive radiation.
2. We monitored growth and survivorship over 2 years of seedlings derived from open-pollinated fruits of eight Metrosideros taxa distributed along the elevation gradient of Koʻolau Volcano, Oʻahu, under four combinations of light and phosphorus. We included …

Corrosion Behavior Of Mgtizn And Mg4tizn Alloys After Ball Milling And Subsequent Spark Plasma Sintering, Alexander Helmer, Rahul Agrawal, Manoj Mugale, Tushar Borkar, Rajeev Gupta

Mechanical Engineering Faculty Publications

Magnesium-containing multi-principal element alloys (MPEAs) are promising for lightweight applications due to their low density, high specific strength, and biocompatibility. This study examines two Mg-Ti-Zn alloy compositions, equal molar MgTiZn (TZ) and Mg4TiZn (4TZ), synthesized via ball milling followed by spark plasma sintering, focusing on their microstructures and corrosion behaviors. X-ray diffraction and transmission electron microscopy revealed the formation of intermetallic phases, including Ti2Zn and Mg21Zn25 in TZ, while 4TZ exhibited a predominantly Mg-rich phase. Potentiodynamic polarization and immersion tests in 0.1 M NaCl solution showed that both alloys had good corrosion resistance, with values of 3.65 +/- 0.65 mu …

Discrete Time Series Forecasting In Non-Invasive Monitoring Of Managed Honey Bee Colonies: Part Ii: Are Hive Weight And In-Hive Temperature Seasonal And Colony-Specific, Vladimir A. Kulyukin, Aleksey V. Kulyukin, William G. Meikle

Computer Science Faculty and Staff Publications

We explored the stationarity, trend, and seasonality of the hive weight and in-hive temperature of ten managed honey bee (Apis mellifera) colonies at a research apiary of the Carl Hayden Bee Research Center in Tucson, Arizona, USA. The hives were monitored with electronic scales and in-hive temperature sensors from June to October 2022. The weight and temperature were recorded every five minutes around the clock. The collected data were curated into 2160 timestamped weight and 2160 timestamped temperature observations. We performed a systematic autoregressive integrated moving average (ARIMA) time series analysis to answer three fundamental questions: (a) Does …

Optimizing Stereotactic Intracranial Neoplasm Treatment: A Systematic Review Of Pet Integration With Gamma Knife Radiosurgery, Robert C. Subtirelu, Eric M. Teichner, Milo Writer, Kevin Bryan, Shiv Patil, Talha Khan, Lancelot Herpin, Raj N. Patel, Emily Christner, Chitra Parikh, Thomas Werner, Abass Alavi, Mona-Elisabeth Revheim

SKMC Student Presentations and Publications

OBJECTIVE: Traditional imaging modalities for the planning of Gamma Knife radiosurgery (GKRS) are non-specific and do not accurately delineate intracranial neoplasms. This study aimed to evaluate the utility of positron emission tomography (PET) for the planning of GKRS for intracranial neoplasms (ICNs) and the post-GKRS applications of PET for patient care.

METHODS: PubMed, Scopus, and ScienceDirect were searched in order to assemble relevant studies regarding the uses of PET in conjunction with GKRS for ICN treatment. PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines were followed to identify relevant studies on the use of PET in conjunction with …

Oscillatory Flow Improves Hydrodynamic Ordering Of Soft Suspensions In Rectangular Channels, Paul C. Millett

Mechanical Engineering Faculty Publications and Presentations

A computational study is presented that examines the hydrodynamic ordering of soft-particle suspensions within rectangular channels undergoing both steady and oscillatory flow. In these conditions, particles assemble into one-dimensional train-like configurations aligned in the flow direction. The results indicate that oscillatory flow facilitates a significant improvement in the ordering process, particularly for the assembly of multiple side-by-side trains within the channel. Several key parameters are systematically varied, including the Wolmersley number (Wo) representing the oscillatory frequency, the capillary number (Ca) representing the particle deformability, and the particle volume fraction (phi). It is found that optimal ordering occurs for a particular …

Identification Of Serum Exosome Proteins In Systemic Sclerosis With Interstitial Lung Disease By Aptamer Proteomics, Sonsoles Piera-Velazquez, Simon T. Dillon, Xuesong Gu, Towia A. Libermann, Sergio A. Jimenez

Jefferson Institute of Molecular Medicine Papers and Presentations

OBJECTIVE: A major unmet need for Systemic Sclerosis (SSc) clinical management is the absence of well validated biomarkers for early diagnosis of SSc-associated interstitial lung disease (SSc-ILD). The objective of this study was to identify proteins contained within serum exosomes that may serve as potential biomarkers to differentiate patients with Diffuse SSc without SSc-ILD from patients with Diffuse SSc with SSc-ILD employing aptamer-based proteomics.

METHODS: Serum exosomes were isolated from two cohorts of patients. The first cohort included 15 patients with Diffuse SSc without SSc-ILD and 14 patients with Diffuse SSc with SSc-ILD and the second cohort included 12 patients …

Advanced Minimal Residual Disease Detection Using A Novel Circulating Tumor Dna Assay: A Report Of Two Cases, Georges Azzi, Thomas P Slavin, Jesus Izaguirre-Carbonell, Hillary S Sloane, Daniel L Edelstein, Cynthia X. Ma

2020-Current year OA Pubs

INTRODUCTION: Tumor-informed minimal residual disease (MRD) monitoring assays based on plasma circulating tumor DNA (ctDNA) are increasingly integrated into the clinical management of patients with cancer. In the post-surgical curative intent setting and as an adjunct to radiographic imaging for response assessment and surveillance, timely identification of MRD may better guide therapeutic decision-making. The increasing clinical adoption of MRD testing, supported by a growing body of evidence demonstrating its potential utility at critical decision points across diverse tumor histology, has brought attention to the variability in the analytical performance of available ctDNA assays. This variability is becoming increasingly appreciated as …

Networked Behaviors Associated With A Large-Scale Secure Messaging Network: Cross-Sectional Secondary Data Analysis, Laura Rosa Baratta, Linlin Xia, Daphne Lew, Elise Eiden, Y Jasmine Wu, Noshir Contractor, Bruce L Lambert, Sunny S Lou, Thomas Kannampallil

2020-Current year OA Pubs

BACKGROUND: Communication among health care professionals is essential for effective clinical care. Asynchronous text-based clinician communication-secure messaging-is rapidly becoming the preferred mode of communication. The use of secure messaging platforms across health care institutions creates large-scale communication networks that can be used to characterize how interaction structures affect the behaviors and outcomes of network members. However, the understanding of the structure and interactions within these networks is relatively limited.

OBJECTIVE: This study investigates the characteristics of a large-scale secure messaging network and its association with health care professional messaging behaviors.

METHODS: Data on electronic health record-integrated secure messaging use from …

Long-Read Sequencing Is Required For Precision Diagnosis Of Incontinentia Pigmenti., Monica H. Wojcik, Robin D. Clark, Abdallah F. Elias, Casie A. Genetti, Jill A. Madden, Dana Simpson, Linda Golkar, Miranda P G Zalusky, Angela L. Miller, Araceli Rodriguez, Joy Goffena, Camille A. Dash, Nikhita Damaraju, Sophia B. Gibson, Sophie H R Storz, Zachary B. Anderson, Jonas A. Gustafson, Isabelle Thiffault, Emily G. Farrow, Tomi Pastinen, Jasmine Lin, Jennifer T. Huang, Alan H. Beggs, Pankaj B. Agrawal, Genomics Research To Elucidate The Genetics Of Rare Diseases (Gregor) Consortium, David T. Miller, Danny E. Miller

Manuscripts, Articles, Book Chapters and Other Papers

Incontinentia pigmenti (IP) is caused by loss-of-function variants in IKBKG, with molecular genetic diagnosis complicated by a pseudogene. We describe seven individuals from three families with IP but negative clinical genetic testing in whom long-read sequencing identified causal variants, including one family with the common exon 4-10 deletion not identified by conventional clinical genetic testing. Concurrent methylation analysis explained disease severity in one individual who died from neurologic complications, identified a mosaic variant in an individual with an atypical presentation, and confirmed skewed X chromosome inactivation in an XXY individual.

Biomedical Research And The “-Omics” Revolution, Andrew N. Rowan

WellBeing News

An "-omics" revolution (genomics, proteomics, metabolomics) supported by AI is transforming biomedical research. Scientists are now proposing to add an "Exposomics" element to ensure that environmental exposures are adequately considered when advancing human health.

Meta-Analysis Of Uveal Melanoma Genome-Wide Association Studies Identifies Novel Risk Loci And Population Effect Size Heterogeneity., Georgia Mies, Noah L. Tsao, Alexandre Houy, Sarah E. Coupland, Helen Kalirai, Asta Försti, Kari Hemminki, Hauke Thomsen, Marc-Henri Stern, Carol L. Shields, Scott M. Damrauer, Katheryn G. Ewens, Arupa Ganguly, Iain Mathieson

Wills Eye Hospital Papers

Uveal melanoma (UM) is a rare but frequently metastasizing cancer. Genome-wide association studies have identified three common genome-wide significant germline risk loci. Here, we perform a genome-wide association study on 401 new cases and conduct a meta-analysis with three independent previously published cohorts for a total sample size of 2,426 cases. We confirm the three previously identified risk loci and identify four additional genome-wide significant loci. We find that eye pigmentation-decreasing variants are systematically associated with increased UM risk and that selection for lighter pigmentation in the past 5,000 years explains about 73% of the difference in UM incidence between …