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Search Results (352)

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16 pages, 1942 KB  
Article
Genetic Diversity of the Non-Polio Enteroviruses Detected in Samples of Patients with Aseptic Meningitis in the Ural Federal District and Western Siberia
by Tarek M. Itani, Vladislav I. Chalapa, Anastasia K. Patrusheva, Evgeniy S. Kuznetsov and Aleksandr V. Semenov
Viruses 2026, 18(1), 121; https://doi.org/10.3390/v18010121 - 16 Jan 2026
Viewed by 121
Abstract
Human non-polio enteroviruses (NPEVs) cause a plethora of infections in humans, ranging from mild to severe neurological diseases including aseptic meningitis. NPEVs are the leading cause of aseptic meningitis in both children and adults worldwide. In Russia, reports of NPEV infections have surged, [...] Read more.
Human non-polio enteroviruses (NPEVs) cause a plethora of infections in humans, ranging from mild to severe neurological diseases including aseptic meningitis. NPEVs are the leading cause of aseptic meningitis in both children and adults worldwide. In Russia, reports of NPEV infections have surged, especially in the post-COVID era starting in 2022, with elevated infection rates into 2023. A comprehensive examination of the whole genome is crucial for understanding the evolution of NPEV genes and for predicting potential outbreaks. This study focused on identifying the circulating NPEV strains in the Ural Federal District and Western Siberia, using Sanger sequencing and next-generation sequencing (NGS) methodologies. Biological samples were collected from (n = 225) patients diagnosed with aseptic meningitis. Bioinformatics analysis targeted the nucleotide sequences of the major capsid protein (partial VP1) gene fragment, and the assembly of whole NPEV genomes. A total of 159 NPEVs were characterized, representing 70.7% of the collected samples. The main capsid variants forming the predominant genotypic profile included E30 (n = 39, 24.3%), E6 (n = 31, 19.3%), and CVA9 (n = 25, 15.6%). Using NGS, we successfully assembled 13 whole genomes for E6, E30, EV-B80, CVA9, CVB5, E11, and EV-A71 and 3 partial genomes for E6 and EV-B87. This molecular-genetic analysis provides contemporary insights into the genotypic composition, circulation patterns, and evolutionary dynamics of the dominant NPEV associated with aseptic meningitis in the Ural Federal District and Western Siberia. The laboratory-based monitoring and epidemiological surveillance for genetic changes and evolutionary studies are important for improving prevention and healthcare. Full article
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20 pages, 720 KB  
Review
Next-Generation S3-Level Clinical Practice Guidelines in Periodontology: Methodology, Current Evidence, and Future Directions
by Nada Tawfig Hashim, Ayman Ahmed, Azza A. Abushama, Salma Musa Adam Abduljalil, Bakri Gobara Gismalla and Muhammed Mustahsen Rahman
Dent. J. 2026, 14(1), 58; https://doi.org/10.3390/dj14010058 - 15 Jan 2026
Viewed by 166
Abstract
Background: S3-level clinical practice guidelines represent the highest standard of evidence-based healthcare, integrating systematic reviews, formal evidence grading, and structured expert consensus. In periodontology, current S3-level guidelines provide robust recommendations for the management of stage I–III periodontitis. However, increasing clinical complexity, emerging [...] Read more.
Background: S3-level clinical practice guidelines represent the highest standard of evidence-based healthcare, integrating systematic reviews, formal evidence grading, and structured expert consensus. In periodontology, current S3-level guidelines provide robust recommendations for the management of stage I–III periodontitis. However, increasing clinical complexity, emerging diagnostic technologies, and the need for patient-centred and implementation-oriented care highlight important gaps that warrant further methodological refinement. Objective: This review aims to critically appraise the conceptual foundations, strengths, and limitations of existing S3-level periodontal guidelines and to propose a structured roadmap for the development of next-generation S3 guidance. Methods: A narrative and methodological review was conducted focusing on key European S3-level guidelines in periodontology and endodontics, with emphasis on guideline methodology, evidence grading, outcome prioritization, and consensus processes. Results: Current S3-level periodontal guidelines demonstrate strong methodological rigor but show limited coverage of stage IV periodontitis, peri-implant diseases, and endo–perio lesions. In addition, emerging domains such as biomarker-based diagnostics, artificial intelligence-assisted decision support, and implementation science are not yet systematically integrated. Conclusions: Future S3-level periodontal guidelines should incorporate clinical complexity, patient-reported outcomes, precision diagnostics, digital technologies, and real-world implementation strategies to enhance personalization, transparency, and clinical impact. Full article
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26 pages, 2231 KB  
Review
Microneedle Technologies for Drug Delivery: Innovations, Applications, and Commercial Challenges
by Kranthi Gattu, Deepika Godugu, Harsha Jain, Krishna Jadhav, Hyunah Cho and Satish Rojekar
Micromachines 2026, 17(1), 102; https://doi.org/10.3390/mi17010102 - 13 Jan 2026
Viewed by 327
Abstract
Microneedle (MN) technologies have emerged as a groundbreaking platform for transdermal and intradermal drug delivery, offering a minimally invasive alternative to oral and parenteral routes. Unlike passive transdermal systems, MNs allow the permeation of hydrophilic macromolecules, such as peptides, proteins, and vaccines, by [...] Read more.
Microneedle (MN) technologies have emerged as a groundbreaking platform for transdermal and intradermal drug delivery, offering a minimally invasive alternative to oral and parenteral routes. Unlike passive transdermal systems, MNs allow the permeation of hydrophilic macromolecules, such as peptides, proteins, and vaccines, by penetrating the stratum corneum barrier without causing pain or tissue damage, unlike hypodermic needles. Recent advances in materials science, microfabrication, and biomedical engineering have enabled the development of various MN types, including solid, coated, dissolving, hollow, hydrogel-forming, and hybrid designs. Each type has unique mechanisms, fabrication techniques, and pharmacokinetic profiles, providing customized solutions for a range of therapeutic applications. The integration of 3D printing technologies and stimulus-responsive polymers into MN systems has enabled patches that combine drug delivery with real-time physiological sensing. Over the years, MN applications have grown beyond vaccines to include the delivery of insulin, anticancer agents, contraceptives, and various cosmeceutical ingredients, highlighting the versatility of this platform. Despite this progress, broader clinical and commercial adoption is still limited by issues such as scalable and reliable manufacturing, patient acceptance, and meeting regulatory expectations. Overcoming these barriers will require coordinated efforts across engineering, clinical research, and regulatory science. This review thoroughly summarizes MN technologies, beginning with their classification and drug-delivery mechanisms, and then explores innovations, therapeutic uses, and translational challenges. It concludes with a critical analysis of clinical case studies and a future outlook for global healthcare. By comparing technological progress with regulatory and commercial hurdles, this article highlights the opportunities and limitations of MN systems as a next-generation drug-delivery platform. Full article
(This article belongs to the Special Issue Breaking Barriers: Microneedles in Therapeutics and Diagnostics)
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29 pages, 2741 KB  
Review
Production Techniques for Antibacterial Fabrics and Their Emerging Applications in Wearable Technology
by Azam Ali, Muhammad Zaman Khan, Sana Rasheed and Rimsha Imtiaz
Micro 2026, 6(1), 5; https://doi.org/10.3390/micro6010005 - 13 Jan 2026
Viewed by 204
Abstract
Integrating antibacterial fabrics into wearable technology represents a transformative advancement in healthcare, fashion, and personal hygiene. Antibacterial fabrics, designed to inhibit microbial growth, are gaining prominence due to their potential to reduce infections, enhance durability, and maintain cleanliness in wearable devices. These fabrics [...] Read more.
Integrating antibacterial fabrics into wearable technology represents a transformative advancement in healthcare, fashion, and personal hygiene. Antibacterial fabrics, designed to inhibit microbial growth, are gaining prominence due to their potential to reduce infections, enhance durability, and maintain cleanliness in wearable devices. These fabrics offer effective antimicrobial properties while retaining comfort and functionality by incorporating nanotechnology and advanced materials, such as silver nanoparticles, zinc oxide, titanium dioxide, and graphene. The production techniques for antibacterial textiles range from chemical and physical surface modifications to biological treatments, each tailored to achieve long-lasting antibacterial performance while preserving fabric comfort and breathability. Advanced methods such as nanoparticle embedding, sol–gel coating, electrospinning, and green synthesis approaches have shown significant promise in enhancing antibacterial efficacy and material compatibility. Wearable technology, including fitness trackers, smart clothing, and medical monitoring devices, relies on prolonged skin contact, making the prevention of bacterial colonization essential for user safety and product longevity. Antibacterial fabrics address these concerns by reducing odor, preventing skin irritation, and minimizing the risk of infection, especially in medical applications such as wound dressings and patient monitoring systems. Despite their potential, integrating antibacterial fabrics into wearable technology presents several challenges. This review provides a comprehensive overview of the key antibacterial agents, the production strategies used to fabricate antibacterial textiles, and their emerging applications in wearable technologies. It also highlights the need for interdisciplinary research to overcome current limitations and promote the development of sustainable, safe, and functional antibacterial fabrics for next-generation wearable. Full article
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30 pages, 1761 KB  
Review
Harnessing Optical Energy for Thermal Applications: Innovations and Integrations in Nanoparticle-Mediated Energy Conversion
by José Rubén Morones-Ramírez
Processes 2026, 14(2), 236; https://doi.org/10.3390/pr14020236 - 9 Jan 2026
Viewed by 251
Abstract
Nanoparticle-mediated photothermal conversion exploits the unique light-to-heat transduction properties of engineered nanomaterials to address challenges in energy, water, and healthcare. This review first examines fundamental mechanisms—localized surface plasmon resonance (LSPR) in plasmonic metals and broadband interband transitions in semiconductors—demonstrating how tailored nanoparticle compositions [...] Read more.
Nanoparticle-mediated photothermal conversion exploits the unique light-to-heat transduction properties of engineered nanomaterials to address challenges in energy, water, and healthcare. This review first examines fundamental mechanisms—localized surface plasmon resonance (LSPR) in plasmonic metals and broadband interband transitions in semiconductors—demonstrating how tailored nanoparticle compositions can achieve >96% absorption across 250–2500 nm and photothermal efficiencies exceeding 98% under one-sun illumination (1000 W·m−2, AM 1.5G). Next, we highlight advances in solar steam generation and desalination: floating photothermal receivers on carbonized wood or hydrogels reach >95% efficiency in solar-to-vapor conversion and >2 kg·m−2·h−1 evaporation rates; three-dimensional architectures recapture diffuse flux and ambient heat; and full-spectrum nanofluids (LaB6, Au colloids) extend photothermal harvesting into portable, scalable designs. We then survey photothermal-enhanced thermal energy storage: metal-oxide–paraffin composites, core–shell phase-change material (PCM) nanocapsules, and MXene– polyethylene glycol—PEG—aerogels deliver >85% solar charging efficiencies, reduce supercooling, and improve thermal conductivity. In biomedicine, gold nanoshells, nanorods, and transition-metal dichalcogenide (TMDC) nanosheets enable deep-tissue photothermal therapy (PTT) with imaging guidance, achieving >94% tumor ablation in preclinical and pilot clinical studies. Multifunctional constructs combine PTT with chemotherapy, immunotherapy, or gene regulation, yielding synergistic tumor eradication and durable immune responses. Finally, we explore emerging opto-thermal nanobiosystems—light-triggered gene silencing in microalgae and poly(N-isopropylacrylamide) (PNIPAM)–gold nanoparticle (AuNP) membranes for microfluidic photothermal filtration and control—demonstrating how nanoscale heating enables remote, reversible biological and fluidic functions. We conclude by discussing challenges in scalable nanoparticle synthesis, stability, and integration, and outline future directions: multicomponent high-entropy alloys, modular photothermal–PCM devices, and opto-thermal control in synthetic biology. These interdisciplinary innovations promise sustainable solutions for global energy, water, and healthcare demands. Full article
(This article belongs to the Special Issue Transport and Energy Conversion at the Nanoscale and Molecular Scale)
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25 pages, 3290 KB  
Review
Next-Generation Biomedical Microwave Antennas: Metamaterial Design and Advanced Printing Manufacturing Techniques
by Maria Koutsoupidou and Irene S. Karanasiou
Sensors 2026, 26(2), 440; https://doi.org/10.3390/s26020440 - 9 Jan 2026
Viewed by 173
Abstract
Biomedical antennas are essential components in modern healthcare systems, supporting wireless communication, physiological monitoring, diagnostic imaging, and therapeutic energy delivery. Their performance is strongly influenced by proximity to the human body, creating challenges such as impedance detuning, signal absorption, and size constraints that [...] Read more.
Biomedical antennas are essential components in modern healthcare systems, supporting wireless communication, physiological monitoring, diagnostic imaging, and therapeutic energy delivery. Their performance is strongly influenced by proximity to the human body, creating challenges such as impedance detuning, signal absorption, and size constraints that motivate new materials and fabrication approaches. This work reviews recent advances enabling next-generation wearable and implantable antennas, with emphasis on printed electronics, additive manufacturing, flexible hybrid integration, and metamaterial design. Methods discussed include 3D printing and inkjet, aerosol jet, and screen printing for fabricating conductive traces on textiles, elastomers, and biodegradable substrates, as well as multilayer Flexible Hybrid Electronics that co-integrate sensing, power management, and RF components into thin, body-conforming assemblies. Key results highlight how metamaterial and metasurface concepts provide artificial control over dispersion, radiation, and near-field interactions, enabling antenna miniaturization, enhanced gain and focusing, and improved isolation from lossy biological tissue. These approaches reduce SAR, stabilize impedance under deformation, and support more efficient communication and energy transfer. The review concludes that the convergence of novel materials, engineered electromagnetic structures, and AI-assisted optimization is enabling biomedical antennas that are compact, stretchable, personalized, and highly adaptive, supporting future developments in unobtrusive monitoring, wireless implants, point-of-care diagnostics, and continuous clinical interfacing. Full article
(This article belongs to the Special Issue Microwaves for Biomedical Applications and Sensing)
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16 pages, 927 KB  
Article
Population Admixture and APOB Variant Landscape in Ecuadorian Mestizo Patients with Cardiac Diseases: Potential Implications for Familial Hypercholesterolemia Genetics
by Santiago Cadena-Ullauri, Patricia Guevara-Ramírez, Viviana A. Ruiz-Pozo, Rafael Tamayo-Trujillo, Elius Paz-Cruz, Manuel Becerra-Fernández, Nieves Doménech, José Luis Laso-Bayas, Rita Ibarra-Castillo, Alejandro Cabrera-Andrade and Ana Karina Zambrano
J. Cardiovasc. Dev. Dis. 2026, 13(1), 36; https://doi.org/10.3390/jcdd13010036 - 8 Jan 2026
Viewed by 197
Abstract
Apolipoprotein B (APOB) is a key structural component of atherogenic lipoproteins and one of the principal genes implicated in familial hypercholesterolemia (FH). However, APOB genetic variation remains poorly characterized in Latin American and admixed populations. In this study, we performed a [...] Read more.
Apolipoprotein B (APOB) is a key structural component of atherogenic lipoproteins and one of the principal genes implicated in familial hypercholesterolemia (FH). However, APOB genetic variation remains poorly characterized in Latin American and admixed populations. In this study, we performed a descriptive analysis of APOB variants in 60 Ecuadorian mestizo patients with inherited cardiac conditions using next-generation sequencing (NGS) and genetic ancestry inference. A total of 227 APOB variants were identified, the majority of which were classified as benign (n = 220) or likely benign (n = 3) according to ACMG criteria, while three variants were classified as variants of uncertain significance (VUS). The most frequently observed variants included rs1042034, rs679899, rs676210, and rs1367117. Comparative allele-frequency analyses using ALFA and PAGE Latin American reference datasets demonstrated that the APOB variant frequencies observed in the cohort were comparable to those reported in other Latin American populations, reflecting the admixed genetic background of Ecuadorian mestizos, predominantly of Native American and European ancestry. No pathogenic APOB variants were detected. Although lipid measurements were not available and genotype–phenotype associations could not be assessed, this study provides the first comprehensive overview of APOB variation in Ecuadorian mestizo individuals. These findings expand population-specific genomic data for an underrepresented group and underscore the importance of regional reference datasets for accurate variant interpretation in admixed populations. Full article
(This article belongs to the Special Issue Cardiovascular Disease in Patients with Familial Hypercholesterolemia)
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37 pages, 7246 KB  
Review
Wearable Sensing Systems for Multi-Modal Body Fluid Monitoring: Sensing-Combination Strategy, Platform-Integration Mechanism, and Data-Processing Pattern
by Manqi Peng, Yuntong Ning, Jiarui Zhang, Yuhang He, Zigan Xu, Ding Li, Yi Yang and Tian-Ling Ren
Biosensors 2026, 16(1), 46; https://doi.org/10.3390/bios16010046 - 6 Jan 2026
Viewed by 584
Abstract
Wearable multi-modal body fluid monitoring enables continuous, non-invasive, and context-aware assessment of human physiology. By integrating biochemical and physical information across multiple modalities, wearable systems overcome the limitations of single-marker sensing and provide a more holistic view of dynamic health states. This review [...] Read more.
Wearable multi-modal body fluid monitoring enables continuous, non-invasive, and context-aware assessment of human physiology. By integrating biochemical and physical information across multiple modalities, wearable systems overcome the limitations of single-marker sensing and provide a more holistic view of dynamic health states. This review offers a system-level overview of recent advances in multi-modal body fluid monitoring, structured into three hierarchical dimensions. We first examine sensing-combination strategies such as multi-marker analysis within single fluids, coupling biochemical signals with bioelectrical, mechanical, or thermal parameters, and emerging multi-fluid acquisition to improve analytical accuracy and physiological relevance. Next, we discuss platform-integration mechanisms based on biochemical, physical, and hybrid sensing principles, along with monolithic and modular architectures enabled by flexible electronics, microfluidics, microneedles, and smart textiles. Finally, the data-processing patterns are analyzed, involving cross-modal calibration, machine learning inference, and multi-level data fusion to enhance data reliability and support personalized and predictive healthcare. Beyond summarizing technical advances, this review establishes a comprehensive framework that moves beyond isolated signal acquisition or simple metric aggregation toward holistic physiological interpretation. It guides the development of next-generation wearable multi-modal body fluid monitoring systems that overcome the challenges of high integration, miniaturization, and personalized medical applications. Full article
(This article belongs to the Special Issue Biosensors for Personalized Treatment)
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29 pages, 1989 KB  
Review
Marine Macroalgal Polysaccharides in Nanomedicine: Blue Biotechnology Contributions in Advanced Therapeutics
by Renu Geetha Bai, Surya Sudheer, Amal D. Premarathna and Rando Tuvikene
Molecules 2026, 31(1), 175; https://doi.org/10.3390/molecules31010175 - 2 Jan 2026
Viewed by 539
Abstract
Marine macroalgae represent a versatile and sustainable platform within blue biotechnology, offering structurally diverse polysaccharides that are making significant contributions to next-generation therapeutical applications. Algae are rich sources of high-value biomolecules, including polysaccharides, vitamins, minerals, proteins, antioxidants, pigments and fibers. Algal biomolecules are [...] Read more.
Marine macroalgae represent a versatile and sustainable platform within blue biotechnology, offering structurally diverse polysaccharides that are making significant contributions to next-generation therapeutical applications. Algae are rich sources of high-value biomolecules, including polysaccharides, vitamins, minerals, proteins, antioxidants, pigments and fibers. Algal biomolecules are widely explored in modern pharmaceuticals due to their range of physiochemical and biological properties. Recently, algal polysaccharides have gained increasing attention in nanomedicine due to their biocompatibility, biodegradability and tunable bioactivity. The nanomedical applications of algal polysaccharides pertain to their anti-coagulant, antiviral, anti-inflammatory, antimicrobial and anti-cancer properties. In this review, we discuss some major macroalgal polysaccharides, such as agar, agarose, funoran, porphyran, carrageenan, alginate and fucoidan, as well as their structure, uses, and applications in nanomedical systems. Both sulfated and non-sulfated polysaccharides demonstrate significant therapeutic properties when engineered into their nanotherapeutic forms. Previous studies show antimicrobial potential of 80–90% antiviral activity > 70%, significant anticoagulant activity, and excellent anticancer responses (up to 80% reductions in cancer cell viability have been reported in nanoformulated versions of polysaccharides). This review discusses structure–function relationships, bioactivities, nanomaterial synthesis and nanomedical applications (e.g., drug delivery, tissue engineering, biosensing, bioimaging, and nanotheranostics). Overall, this review reflects the potential of algal polysaccharides as building blocks in sustainable biomedical engineering in the future healthcare industry. Full article
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8 pages, 1603 KB  
Case Report
From MAiD Referral to Targeted Therapy Success: A Case of BRAF-Mutated Anaplastic Thyroid Cancer
by Brett Stubbert, Paul Stewart, Eric Winquist, Matthew Cecchini and Claire Browne
Reports 2026, 9(1), 10; https://doi.org/10.3390/reports9010010 - 28 Dec 2025
Viewed by 274
Abstract
Background and Clinical Significance: Anaplastic thyroid cancer (ATC) is a rare and aggressive malignancy with a poor prognosis, where median survival typically ranges from 4 to 10 months. Advances in genetic profiling, particularly the identification of BRAF mutations, offer new opportunities for [...] Read more.
Background and Clinical Significance: Anaplastic thyroid cancer (ATC) is a rare and aggressive malignancy with a poor prognosis, where median survival typically ranges from 4 to 10 months. Advances in genetic profiling, particularly the identification of BRAF mutations, offer new opportunities for targeted therapy. Case Presentation: This case report details the journey of a woman in her late 50s diagnosed with symptomatic ATC. Initial immunohistochemistry (IHC) testing for BRAF mutations returned negative results, leaving the patient with limited treatment options and prompting her to pursue medical assistance in dying (MAiD). However, next-generation sequencing (NGS) confirmed a V600EBRAF mutation, and a basis for targeted therapy. The patient began treatment with dabrafenib-trametinib, followed by pembrolizumab as second-line therapy, ultimately extending her life by nearly seven months. Conclusions: This case underscores the importance of rapid and comprehensive diagnostic approaches, particularly the higher sensitivity of NGS over IHC for detecting BRAF mutations. The complexities of accessing newer therapies in Canada’s single-payer healthcare system are also emphasized. The utilization of newer rapid diagnostic technologies can have a direct impact on directing treatment for ATC and other aggressive malignancies. Full article
(This article belongs to the Section Oncology)
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46 pages, 2542 KB  
Review
Advances in Tuberculous Meningitis: Research, Challenges, and Future Perspectives
by Laura Marinela Ailioaie, Constantin Ailioaie and Gerhard Litscher
Appl. Sci. 2026, 16(1), 232; https://doi.org/10.3390/app16010232 - 25 Dec 2025
Viewed by 568
Abstract
Tuberculous meningitis (TBM) is the most lethal form of tuberculosis (TB), with reported short-term mortality of 20–69% for patients on treatment and five-year deaths exceeding 58%. The World Health Organization has reported a new record of approximately 8.3 million new cases of TB [...] Read more.
Tuberculous meningitis (TBM) is the most lethal form of tuberculosis (TB), with reported short-term mortality of 20–69% for patients on treatment and five-year deaths exceeding 58%. The World Health Organization has reported a new record of approximately 8.3 million new cases of TB diagnosed worldwide, with TBM accounting for 1–5% of these cases in 2024. Heterogeneous clinical manifestations, as well as difficulties in identifying TBM at onset, will delay timely therapy. Drug-resistant TB (DRTB) represents a real threat to public health and is evolving rapidly. Although new drugs have emerged to overcome DRTB, their role in TBM is limited. Our first objective was to update knowledge about the pathogenic mechanisms, clinical manifestations, diagnosis, therapy, and prevention of TBM. Another goal was to highlight advances in nanomedicine and medical imaging in terms of timely diagnosis of TBM and rapid initiation of targeted treatment, including overcoming DRTBM. The last aim was to bring to the attention of infectious disease specialists, neurologists, pediatricians, healthcare professionals, and information technology (IT) specialists the results of clinical trials on TBM published in the last two years. Technological innovation has integrated next-generation sequencing, and IT and artificial intelligence (AI) will develop new applications for precision medicine in TBM and vaccine optimization. Full article
(This article belongs to the Special Issue Tuberculosis—a Millennial Disease in the Age of New Technologies)
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30 pages, 2652 KB  
Article
Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population
by Iqra Tabassum, Muhammad Shafique and Muhammad Shoaib Akhtar
Int. J. Mol. Sci. 2026, 27(1), 206; https://doi.org/10.3390/ijms27010206 - 24 Dec 2025
Viewed by 645
Abstract
Rare genetic diseases (RGDs) affect individuals, families, and healthcare systems worldwide. Population-scale genomic data remain largely restricted to Western cohorts with an estimated 10,000 RGDs. South Asian populations remain underrepresented in molecular, clinical, and genomic databases. This study presents the first preliminary molecular [...] Read more.
Rare genetic diseases (RGDs) affect individuals, families, and healthcare systems worldwide. Population-scale genomic data remain largely restricted to Western cohorts with an estimated 10,000 RGDs. South Asian populations remain underrepresented in molecular, clinical, and genomic databases. This study presents the first preliminary molecular genetic characterization of RGDs in the Punjabi population of Pakistan. Data were collected from the provincial RGD registry at the Punjab Thalassemia and Other Genetic Disorders Prevention and Research Institute (PTGDPRI), Lahore. Families diagnosed using next-generation sequencing (NGS) between 2021 and 2023 were enrolled. Structured questionnaires captured clinical, demographic, and socioeconomic information, and statistical and genetic analyses were performed to assess allele frequencies, and disease distribution. The registry included 167 families with 72 distinct RGDs, with a mean burden of 0.81 ± 0.24 affected children per family. Niemann–Pick disease (NP), progressive familial intrahepatic cholestasis (PFIC), and mucopolysaccharidosis (MPS) were the most common diseases. Consanguinity was observed in 89% of families, 77% of which involved first-cousin marriages, and was significantly associated with RGD incidence. Most families belonged to low-income groups despite high literacy rates, underscoring inequity in healthcare. The primary and secondary variants included 131 variants, including copy number variants (CNVs) and single nucleotide variants (SNVs), annotated as pathogenic, likely pathogenic, or variants of unknown significance (VUS) across 109 genes, including 24 South Asian-enriched variants. This study provides the first genomic and epidemiological overview of RGDs in the Punjabi population. The findings reveal how genetic, socioeconomic, and cultural factors converge to amplify the RGD burden and highlight the need for affordable molecular diagnostics, inclusive genomic databases, and regional genomic surveillance initiatives in South Asia. Full article
(This article belongs to the Special Issue Exploring the Genetics in Rare Diseases: A Genomic Odyssey)
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41 pages, 2975 KB  
Review
Taming Superbugs: Current Progress and Challenges in Combating ESKAPE Pathogens
by Helal F. Hetta, Fatma R. Khalaf, Ahmed A. Kotb, Marah N. Alatawi, Abdullah S. Albalawi, Ahmad A. Alharbi, Maryam K. Aljohani, Shumukh Saad Aljohani, Majd S. Alatawi, Noura H. Abd Ellah, Basem Battah, Matthew G. Donadu and Vittorio Mazzarello
Pathogens 2026, 15(1), 28; https://doi.org/10.3390/pathogens15010028 - 24 Dec 2025
Viewed by 469
Abstract
The global incidence of multidrug-resistant (MDR) ESKAPE pathogens—comprising Enterococcus faecium, Staphylococcus aureus, Klebsiella pneumoniae, Acinetobacter baumannii, Pseudomonas aeruginosa, and Enterobacter species—has surged alarmingly in recent years, posing a significant challenge to healthcare systems worldwide. These organisms are notorious [...] Read more.
The global incidence of multidrug-resistant (MDR) ESKAPE pathogens—comprising Enterococcus faecium, Staphylococcus aureus, Klebsiella pneumoniae, Acinetobacter baumannii, Pseudomonas aeruginosa, and Enterobacter species—has surged alarmingly in recent years, posing a significant challenge to healthcare systems worldwide. These organisms are notorious for their capacity to evade the effects of multiple classes of antibiotics, leading to treatment failures, increased morbidity and mortality, and escalating healthcare costs, all of which have placed unprecedented strain on existing infection control measures. This review encapsulates the progress in target-driven vaccine research, including the genomic discovery of highly conserved surface antigens, iron acquisition systems, biofilm- and quorum-sensing-related proteins, and computationally predicted epitopes, which are considered the most attractive targets for broad-spectrum vaccination. Novel vaccine platforms, such as outer membrane vesicles (OMVs), mRNA technologies, and multi-epitope constructs, will rapidly drive the translation of these targets into next-generation vaccine formulations. Nevertheless, challenges such as antigenic variation and immune evasion, as well as the need for a robust mucosal and cross-protective immune response, persist. The sustainability in interdisciplinary investigations are required, along with adjunctive measures and investment in the development of advanced discovery and delivery systems, to achieve the ultimate goal of successful vaccines against MDR ESKAPE infections and to mitigate the worldwide burden of antimicrobial resistance. Full article
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12 pages, 933 KB  
Case Report
Liquid Biopsy and Automated Next-Generation Sequencing: Achieving Results in 27 Hours Within a Community Setting
by Tomomi Yajima, Fumitake Hata, Sei Kurokawa, Kanan Sawamoto, Akiko Yajima, Daisuke Furuya and Noriyuki Sato
Diagnostics 2026, 16(1), 37; https://doi.org/10.3390/diagnostics16010037 - 22 Dec 2025
Viewed by 368
Abstract
Background/Objectives: Conventional next-generation sequencing (NGS) workflows often require more than two weeks to complete, delaying treatment decisions and limiting access to precision oncology in community settings. This report aimed to demonstrate the feasibility of performing rapid, comprehensive cell-free DNA (cfDNA)-based genomic profiling [...] Read more.
Background/Objectives: Conventional next-generation sequencing (NGS) workflows often require more than two weeks to complete, delaying treatment decisions and limiting access to precision oncology in community settings. This report aimed to demonstrate the feasibility of performing rapid, comprehensive cell-free DNA (cfDNA)-based genomic profiling by introducing a fully automated NGS workflow in a community hospital environment. Case Presentation: A postoperative patient with pancreatic ductal adenocarcinoma and liver metastasis underwent cfDNA-based liquid biopsy using plasma collected in PAXgene® Blood ccfDNA Tubes. Gene analysis was performed using the Oncomine Precision Assay GX5 on the Ion Torrent Genexus™ System (Thermo Fisher Scientific). Three pathogenic hotspot mutations—KRAS G12R, TP53 M246I/M246K, and GNA11—and one copy number gain in PIK3CA were identified, whereas no variants were detected in a healthy volunteer control. The total turnaround time from plasma separation to report generation was approximately 27 h, requiring only 40 min of total hands-on time. Discussion: This rapid, automated workflow enabled comprehensive cfDNA analysis within a clinically practical timeframe, overcoming key limitations of conventional multi-step NGS workflows that typically require external sample shipment and specialized personnel. The results confirm the technical feasibility of conducting high-quality molecular testing in a regional hospital setting. Conclusions: This report demonstrates that fully automated cfDNA-based NGS can achieve clinically meaningful genomic profiling within 27 h in a community hospital. This advancement addresses the time and cost barriers of traditional NGS analysis and represents a significant step toward promoting precision medicine in community healthcare. Full article
(This article belongs to the Special Issue Utilization of Liquid Biopsy in Cancer Diagnosis and Management 2025)
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25 pages, 2421 KB  
Review
Taiwan’s Smart Healthcare Value Chain: AI Innovation from R&D to Industry Deployment
by Tzu-Min Lin, Hui-Wen Yang, Ching-Cheng Han and Chih-Sheng Lin
Healthcare 2026, 14(1), 23; https://doi.org/10.3390/healthcare14010023 - 21 Dec 2025
Viewed by 1075
Abstract
Taiwan’s strategic focus in digital healthcare has been officially integrated into national industrial policy and identified as a crucial application area for artificial intelligence (AI) and next-generation communication technologies. As the healthcare sector undergoes rapid digital transformation, digital healthcare technologies have emerged as [...] Read more.
Taiwan’s strategic focus in digital healthcare has been officially integrated into national industrial policy and identified as a crucial application area for artificial intelligence (AI) and next-generation communication technologies. As the healthcare sector undergoes rapid digital transformation, digital healthcare technologies have emerged as essential tools for improving medical quality and efficiency. Leveraging the extensive coverage of its National Health Insurance (NHI) system and its strengths in Information and Communications Technology (ICT), Taiwan also benefits from the robust research capacity of universities and hospitals. Government-driven regulatory reforms and infrastructure initiatives are further accelerating the advancement of the NHI MediCloud system and the broader digital healthcare ecosystem. This article provides a comprehensive overview of smart healthcare development, highlighting government policy support and the R&D capabilities of universities, research institutes, and hospitals. It also examines the ICT industry’s participation in the development of smart healthcare ecosystems, such as Foxconn, Quanta, Acer, ASUS, Wistron, Qisda, etc. With strong data assets, technological expertise, and policy backing, Taiwan demonstrates significant potential in both AI innovation and smart healthcare applications, steadily positioning itself as a key player in the global healthcare market. Full article
(This article belongs to the Section Artificial Intelligence in Healthcare)
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