Review
Integrative & Complementary Medicine
Kai Liu, Long Xie, Mao Deng, Xumin Zhang, Jia Luo, Xiaofang Li
Summary: Musk, a dried secretion from the musk sac gland of mature male musk deer, has been used in traditional Chinese medicine for various medicinal purposes. Studies have shown that musk contains various compounds and the main active ingredient is muscone, which exhibits anti-inflammatory, neuroprotective, antioxidant, and anti-cancer effects. Quality control methods focus on detecting muscone and evaluations based on steroids and bioactivity have also been developed. Future research should include more in vivo experiments and clinical studies to further understand the pharmacological effects and toxicity of musk, as well as develop comprehensive quality control methods.
Review
Oncology
Liliana Montella, Lucia Altucci, Federica Sarno, Carlo Buonerba, Stefano De Simone, Bianca Arianna Facchini, Elisena Franzese, Ferdinando De Vita, Salvatore Tafuto, Massimiliano Berretta, Gaetano Facchini
Summary: Soft-tissue sarcomas are a diverse group of tumors with complex genetic and clinical characteristics. Treatment options for advanced stages are often ineffective, and precision medicine offers new hope for targeted therapies in the future. The identification of genomic alterations in sarcoma may provide new opportunities for personalized treatment approaches.
Review
Neurosciences
Harald Hampel, Andrea Vergallo, Filippo Caraci, A. Claudio Cuello, Pablo Lemercier, Bruno Vellas, Kelly Virecoulon Giudici, Filippo Baldacci, Britta Hanisch, Marion Haberkamp, Karl Broich, Robert Nistico, Enzo Emanuele, Francisco Llavero, Jose L. Zugaza, Alejandro Lucia, Ezio Giacobini, Simone Lista
Summary: The availability of disease-modifying therapies for Alzheimer's disease will lead to a large demand for clinical and biological screening, challenging global healthcare systems. Advancements are needed in validating and qualifying minimally-invasive blood-based biomarkers to align with an evolving ATN + classification system. Novel pathophysiological mechanisms and candidate biomarkers are being integrated into blood-based liquid biopsies to drive precision medicine strategies.
Review
Physiology
Dan Liu, Xingxing Li, Lin Zhang, Bin Hu, Sang Hu, Xiao Zhang, Jing Hu
Summary: Osteoarthritis is a common degenerative joint disease that mainly damages articular cartilage, causing pain, swelling, and stiffness. The treatment options are limited and the common drugs have frequent and serious adverse reactions. The development of safer and more effective anti-osteoarthritis drugs is essential and urgent. This review summarizes recent advances in pharmacological treatment, focusing on inhibitors targeting cartilage remodeling and optimizing the dosage form of traditional drugs to reduce adverse effects.
FRONTIERS IN PHYSIOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Myunggyo Lee, Hyejin Shin, Musun Park, Aeyung Kim, Seongwon Cha, Haeseung Lee
Summary: Herbal medicine is a multi-component treatment, but its molecular mechanism of action on the human body is unknown. Systems pharmacology, which interprets pharmacological effects of drugs from interaction networks, is increasingly used to study herbal medicine. Recent studies combine network-based approaches and high-throughput omics technology to explore the complex mechanisms and direct associations between herbs and genes.
Article
Plant Sciences
Mingchao Cui, Shaojun Chen, Hanhua Wang, Ping Pan, Yiyuan Luo, Xiuxiu Sha
Summary: This study explored the mechanism of Fritillariae Thunbergii Flos (FTF) in the treatment of lung carcinoma through systems pharmacology. It was found that FTF could inhibit tumor proliferation, extend the survival period of tumor-bearing mice, and downregulate multiple genes involved in tumor growth.
JOURNAL OF ETHNOPHARMACOLOGY
(2021)
Review
Integrative & Complementary Medicine
Xue-yuan Yang, Wan-ling Cai, Chen-lu Guo, Qi-hua Chen
Summary: This review summarizes the herbs and ancient Chinese medicine formulas used in the treatment of psoriasis vulgaris (PV) and discusses the current status and obstacles of Chinese medicine in modern medicine. The future of Chinese medicine in the context of precision medicine and integrated medicine is also discussed.
CHINESE JOURNAL OF INTEGRATIVE MEDICINE
(2023)
Article
Construction & Building Technology
Gerhard Schubert, Ivan Bratoev, Frank Petzold
Summary: The benefits of design decision support systems in architectural planning have been proven in research and are increasingly used in practice. These systems provide objective information to support decision-making with well-founded data and statements. However, there are challenges to be addressed and a vision for the future of these systems is proposed, highlighting the transition from reactive to proactive assistance.
Review
Pharmacology & Pharmacy
Alessia Di Donfrancesco, Giulia Massaro, Ivano Di Meo, Valeria Tiranti, Emanuela Bottani, Dario Brunetti
Summary: This article provides a comprehensive overview of the application of gene therapy in mitochondrial diseases (MDs), addressing the main challenges, feasible solutions, and future prospects.
Article
Engineering, Electrical & Electronic
Yi Wang, Chien-Fei Chen, Peng-Yong Kong, Husheng Li, Qingsong Wen
Summary: With the integration of distributed energy resources (DERs) into distribution systems, there has been a significant increase in data collection, communication, and control devices. The coupling relationships among the cyber, physical, and social aspects of distribution systems are explored in this comprehensive review. Emerging challenges such as 5G communication, the impact of COVID-19, and data privacy issues are also discussed. Several future research directions and challenges in cyber-physical-social distribution systems are envisioned.
PROCEEDINGS OF THE IEEE
(2023)
Review
Public, Environmental & Occupational Health
D. Tin, R. Hata, G. R. Ciottone
Summary: This article provides a descriptive analysis of stadium disasters occurring between 1901 and 2021, aiming to offer useful insights for preventing and mitigating potential future stadium disasters. The findings indicate the widespread existence of stadium disasters globally, resulting in significant casualties.
Review
Oncology
Alberto Puccini, Andreas Seeber, Martin D. Berger
Summary: This review provides an overview of established and potential promising biomarkers for guiding the treatment of metastatic colorectal cancer, aiming to further improve patient outcome.
Article
Pharmacology & Pharmacy
Jane P. F. Bai, Brian J. Schmidt, Kapil G. Gadkar, Valeriu Damian, Justin C. Earp, Christina Friedrich, Piet H. van der Graaf, Rajanikanth Madabushi, Cynthia J. Musante, Kunal Naik, Mark Rogge, Hao Zhu
Summary: The pharmaceutical industry is actively applying QSP for internal decision-making and drug development guidance. Scientists organized a virtual Scientific Exchange to facilitate the development of a common framework for assessing the credibility of QSP models. Model transparency was identified as a key factor for robust model assessment.
Article
Nutrition & Dietetics
Markku Laakso, Lilian Fernandes Silva
Summary: Diabetes, especially type 2 diabetes, is a global epidemic. Genetic and environment/lifestyle factors play a role in the risk of developing type 2 diabetes. Genetic studies of diabetes focus on different subgroups to provide personalized treatment options for patients.
Review
Biochemistry & Molecular Biology
Emily Samuela Turilli, Marta Lualdi, Mauro Fasano
Summary: The outbreak of the SARS-CoV-2 pandemic has driven the scientific community to seek rapid solutions to cope with the health emergency. The complexity of COVID-19 in terms of clinical outcomes, severity, and therapy response suggests the use of multifactorial strategies and systems biology approaches. Proteomics, interactomics, and artificial intelligence tools have been used to understand the pathobiology of COVID-19, identify drug targets, and repurpose drugs.
Review
Endocrinology & Metabolism
Mona M. Makhamreh, Naiga Cottingham, Carlos R. Ferreira, Seth Berger, Huda B. Al-Kouatly
JOURNAL OF INHERITED METABOLIC DISEASE
(2020)
Article
Genetics & Heredity
Joel J. Hughes, Ebba Alkhunaizi, Paul Kruszka, Louise C. Pyle, Dorothy K. Grange, Seth I. Berger, Katelyn K. Payne, Diane Masser-Frye, Tommy Hu, Michelle R. Christie, Nancy J. Clegg, Joshua L. Everson, Ariel F. Martinez, Laurence E. Walsh, Emma Bedoukian, Marilyn C. Jones, Catharine Jean Harris, Korbinian M. Riedhammer, Daniela Choukair, Patricia Y. Fechner, Meilan M. Rutter, Sophia B. Hufnagel, Maian Roifman, Gad B. Kletter, Emmanuele Delot, Eric Vilain, Robert J. Lipinski, Chad M. Vezina, Maximilian Muenke, David Chitayat
AMERICAN JOURNAL OF HUMAN GENETICS
(2020)
Article
Genetics & Heredity
Natasha Shur, Shireen M. Atabaki, Monisha S. Kisling, Abir Tabarani, Clarence Williams, Jamie L. Fraser, Debra S. Regier, Marshall Summar
Summary: Telemedicine has played a crucial role in the current COVID-19 pandemic, emphasizing the importance of safe and effective patient care. The program, focusing on patient's homes, aimed to increase access to care, reduce missed work, and improve scheduling by conducting visits through physician medical geneticists, genetic counselors, and biochemical dietitians. This pilot-program successfully optimized patient safety and workforce preservation, providing full access to patients during the pandemic and proving the effectiveness and value of telemedicine for a complex medical population.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Review
Genetics & Heredity
Andrea M. Quinn, Breanna N. Valcarcel, Mona M. Makhamreh, Huda B. Al-Kouatly, Seth I. Berger
Summary: Hydrops fetalis (HF) is a life-threatening condition caused by fluid accumulation in fetal compartments, with genetic causes including chromosomal and monogenic disorders. Current clinical workup often does not fully evaluate genetic targets, leading to a need for broader molecular testing. Research identifies numerous genes associated with nonimmune HF, some with emerging evidence, suggesting potential treatment implications. Broad sequencing approaches like exome sequencing may be useful in improving clinical management of HF.
GENETICS IN MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Ekanem N. Ekure, Adebowale Adeyemo, Hanhan Liu, Ogochukwu Sokunbi, Nnenna Kalu, Ariel F. Martinez, Babajide Owosela, Cedrik Tekendo-Ngongang, Yonit A. Addissie, Akinsanya Olusegun-Joseph, Desmond Ikebudu, Seth Berger, Maximilian Muenke, Zhe Han, Paul Kruszka
Summary: This study identified novel candidate genes and variants for CHD through exome sequencing, facilitating comparisons with previous studies in predominantly European cohorts. It represents an important first step in genomic studies of CHD in understudied populations.
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2021)
Article
Genetics & Heredity
Huda B. Al-Kouatly, Mona M. Makhamreh, Stephanie M. Rice, Kelsey Smith, Christopher Harman, Andrea Quinn, Breanna N. Valcarcel, Brandy Firman, Ruby Liu, Madhuri Hegde, Elizabeth Critchlow, Seth I. Berger
Summary: Testing with prenatal exome sequencing (ES) for nonimmune hydrops fetalis (NIHF) after negative standard workup can yield 50% diagnostic results and may provide crucial information for postnatal prognosis and future pregnancies.
GENETICS IN MEDICINE
(2021)
Article
Genetics & Heredity
Sebastien Kury, Frederic Ebstein, Alice Molle, Thomas Besnard, Ming-Kang Lee, Virginie Vignard, Tiphaine Hery, Mathilde Nizon, Grazia M. S. Mancini, Jacques C. Giltay, Benjamin Cogne, Kirsty McWalter, Wallid Deb, Hagar Mor-Shaked, Hong Li, Rhonda E. Schnur, Ingrid M. Wentzensen, Anne-Sophie Denomme-Pichon, Cynthia Fourgeux, Frans W. Verheijen, Eva Faurie, Rachel Schot, Cathy A. Stevens, Daphne J. Smits, Eileen Barr, Ruth Sheffer, Jonathan A. Bernstein, Chandler L. Stimach, Eliana Kovitch, Vandana Shashi, Kelly Schoch, Whitney Smith, Richard H. van Jaarsveld, Anna C. E. Hurst, Kirstin Smith, Evan H. Baugh, Suzanne G. Bohm, Emilie Vyhnalkova, Lukas Ryba, Capucine Delnatte, Juanita Neira, Dominique Bonneau, Annick Toutain, Jill A. Rosenfeld, Severine Audebert-Bellanger, Brigitte Gilbert-Dussardier, Sylvie Odent, Frederic Laumonnier, Seth Berger, Ann C. M. Smith, Franck Bourdeaut, Marc-Henri Stern, Richard Redon, Elke Krueger, Raphael Margueron, Stephane Bezieau, Jeremie Poschmann, Bertrand Isidor
Summary: This study reports on a rare syndromic neurodevelopmental disorder caused by rare germline missense BAP1 variants, and provides evidence that these variants alter chromatin remodeling and transcriptional dysregulation of developmental genes.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Review
Obstetrics & Gynecology
Rebecca Horgan, Julia A. Youssef, Ariel T. Levy, Seth Berger, Sophie Dreux, Maria L. Brizot, Alison Boutall, Alfred Z. Abuhamad, Ana M. Angarita, Huda B. Al-Kouatly
Summary: Isolated fetal ascites has diverse etiologies, with survival rates related to the underlying cause. In most cases, fetal ascites does not progress to fetal hydrops.
OBSTETRICS AND GYNECOLOGY
(2021)
Article
Pediatrics
Seth I. Berger, Ilana Miller, Laura Tochen
Summary: This study reported a case of a child who initially had negative results on whole exome sequencing, but further evaluation and analysis led to a diagnosis of treatable DOPA-responsive dystonia. It highlights the importance of careful review of uncertain variants and consideration of the clinical context during exome sequencing.
Article
Cell & Tissue Engineering
Christoph Schaniel, Priyanka Dhanan, Bin Hu, Yuguang Xiong, Teeya Raghunandan, David M. Gonzalez, Rafael Dariolli, Sunita L. D'Souza, Arjun S. Yadaw, Jens Hansen, Gomathi Jayaraman, Bino Mathew, Moara Machado, Seth I. Berger, Joseph Tripodi, Vesna Najfeld, Jalaj Garg, Marc Miller, Colleen S. Surlyn, Katherine C. Michelis, Neelima C. Tangirala, Himali Weerahandi, David C. Thomas, Kristin G. Beaumont, Robert Sebra, Milind Mahajan, Eric Schadt, Dusica Vidovic, Stephan C. Schurer, Joseph Goldfarb, Evren U. Azeloglu, Marc R. Birtwistle, Eric A. Sobie, Jason C. Kovacic, Nicole C. Dubois, Ravi Iyengar
Summary: The library of hiPSC lines from clinically healthy human subjects is a valuable resource for various studies on human biology. These hiPSC lines are well-characterized, gender-balanced, and racially/ethnically diverse, ranging in age from 22 to 61 years. The extensive characterization of the hiPSC lines includes whole-genome sequencing data, genomic ancestry determination, and analysis of mendelian disease genes and risks.
Article
Genetics & Heredity
Charles J. Billington, Kimberly A. Chapman, Eyby Leon, Beatrix W. Meltzer, Seth Berger, Matthew Olson, Robert A. Figler, Steve A. Hoang, Cui Wanxing, Brian R. Wamhoff, M. Sol Collado, Kristina Cusmano-Ozog
Summary: Maple syrup urine disease (MSUD) is a genetic metabolic disorder characterized by hyperleucinemia, brain swelling, and death. In this case series, patients with MSUD caused by DBT gene mutations were studied. These mutations led to decreased protein production and accumulation of branched-chain amino acids and alpha-ketoacids. The patients presented with classical MSUD with neonatal onset and were all from families who immigrated from Honduras or El Salvador.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Endocrinology & Metabolism
Megan Raymond, Elizabeth Critchlow, Stephanie M. Rice, Sascha Wodoslawsky, Seth I. Berger, Madhuri Hegde, Philip E. Empey, Huda B. Al-Kouatly
Summary: This study assessed parental desire for PGx testing and found that the majority of parents were interested in receiving PGx results. Furthermore, it revealed that 89% of the tested individuals had actionable PGx variants. The feasibility of obtaining fetal PGx data for medically complex neonates was also demonstrated.
MOLECULAR GENETICS AND METABOLISM
(2022)
Meeting Abstract
Obstetrics & Gynecology
Huda B. Al-Kouatly, Mona M. Makhamreh, Stephanie M. Rice, Kelsey Smith, Christopher Harman, Andrea Quinn, Breanna Valcarcel, Brandy Firman, Ruby Liu, Madhuri Hedge, Elizabeth Critchlow, Seth I. Berger
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2021)
Meeting Abstract
Obstetrics & Gynecology
Tomi T. Kanninen, Emily Stroobant, Rebecca Pierce-Williams, Seth Berger, Huda B. Al-Kouatly
OBSTETRICS AND GYNECOLOGY
(2020)
Meeting Abstract
Genetics & Heredity
J. Hughes, P. Kruszka, S. I. Berger, K. Payne, D. Masser-Frye, T. Hu, J. L. Everson, A. F. Martinez, L. Walsh, M. Jones, R. J. Lipinski, M. Muenke
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2020)
