Review
Medicine, Research & Experimental
Johra Khan, Lubna Ibrahim Al Asoom, Ahmad Al Sunni, Nazish Rafique, Rabia Latif, Seham Al Saif, Noor B. Almandil, Dana Almohazey, Sayed AbdulAzeez, J. Francis Borgio
Summary: Migraine is a neurological ailment characterized by severe unilateral headache and associated symptoms. The pathogenesis of migraine involves intracranial network activation leading to trigemino-vascular system sensitization and inflammatory reaction. Genetic factors may play a significant role in individual susceptibility to migraine.
BIOMEDICINE & PHARMACOTHERAPY
(2021)
Article
Clinical Neurology
Adriano Chio, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Rosario Vasta, Francesca Palumbo, Salvatore Gallone, Maura Brunetti, Marco Barberis, Fabiola De Marchi, Clifton Dalgard, Ruth Chia, Gabriele Mora, Barbara Iazzolino, Laura Peotta, Bryan Traynor, Lucia Corrado, Sandra D'Alfonso, Letizia Mazzini, Andrea Calvo
Summary: In Italian patients with ALS, those carrying intermediate ATXN2 polyQ repeats exhibit a faster disease progression, shorter survival, and more severe cognitive impairment.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Review
Oncology
Zhongyi Xu, Yuecen Ding, Leihong Flora Xiang, Chengfeng Zhang
Summary: Riehl's melanosis is a hyperpigmentation disorder that has a significant psychological and social impact on individuals. The mechanism of this disease remains unclear, but it is believed to be caused by allergic sensitization, genetic factors, ultraviolet radiation, and autoimmune factors. Various diagnostic methods and treatments have been used, including dermoscopy, patch/photopatch testing, and topical skin-lightening agents. The latest findings on possible biomarkers and their relationship to other autoimmune diseases were also summarized.
PIGMENT CELL & MELANOMA RESEARCH
(2023)
Review
Medicine, Research & Experimental
Yenan Fang, Bingyan Shen, Qin Dai, Qiqi Xie, Wencan Wu, Min Wang
Summary: Orbital inflammatory pseudotumor (OIP) is a benign inflammatory disorder that commonly occurs in middle-aged adults. Its clinical manifestations vary greatly and diagnostic evaluations are necessary. The pathogenesis of OIP is not fully understood, but it may be related to immunity or infection. Glucocorticoids are the first-line treatment, and other options can be considered for treatment-resistant cases. This review focuses on new diagnostic criteria, pathogenesis, and discoveries in new drugs and treatment strategies, with emphasis on the role of T cell-mediated immune responses.
EUROPEAN JOURNAL OF MEDICAL RESEARCH
(2023)
Article
Medicine, Research & Experimental
Lynn M. M. Schriml, Richard Lichenstein, Katharine Bisordi, Cynthia Bearer, J. Allen Baron, Carol Greene
Summary: A complex disease model that considers the combination of multiple phenotypes and diseases and the interaction of genetic, environmental, and social factors has been developed and tested. The model provides a more accurate classification of complex diseases and improves understanding of disease drivers.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Review
Endocrinology & Metabolism
Anita C. S. Hokken-Koelega, Manouk van der Steen, Margaret C. S. Boguszewski, Stefano Cianfarani, Jovanna Dahlgren, Reiko Horikawa, Veronica Mericq, Robert Rapaport, Abdullah Alherbish, Debora Braslavsky, Evangelia Charmandari, Steven D. Chernausek, Wayne S. Cutfield, Andrew Dauber, Asma Deeb, Wesley J. Goedegebuure, Paul L. Hofman, Elvira Isganatis, Alexander A. Jorge, Christina Kanaka-Gantenbein, Kenichi Kashimada, Vaman Khadilkar, Xiao-Ping Luo, Sarah Mathai, Yuya Nakano, Mabel Yau
Summary: This International Consensus Guideline, developed by experts from 10 pediatric endocrine societies worldwide, provides new insights into the causes and consequences of short stature after SGA birth. It also offers recommendations for accurate diagnosis, early follow-up, and appropriate treatment options. The guideline emphasizes the importance of genetic testing and counseling, as well as promoting a healthy lifestyle for young adults born SGA.
Article
Urology & Nephrology
Dina F. Ahram, Tze Y. Lim, Juntao Ke, Gina Jin, Miguel Verbitsky, Monica Bodria, Byum Hee Kil, Debanjana Chatterjee, Stacy E. Piva, Maddalena Marasa, Jun Y. Zhang, Enrico Cocchi, Gianluca Caridi, Zoran Gucev, Vladimir J. Lozanovski, Isabella Pisani, Claudia Izzi, Gianfranco Savoldi, Barbara Gnutti, Valentina P. Capone, William Morello, Stefano Guarino, Pasquale Esposito, Sarah Lambert, Jai Radhakrishnan, Gerald B. Appel, Natalie S. Uy, Maya K. Rao, Pietro A. Canetta, Andrew S. Bomback, Jordan G. Nestor, Thomas Hays, David J. Cohen, Carolina Finale, Joanna A. E. Van Wijk, Claudio La Scola, Olga Baraldi, Francesco Tondolo, Dacia Di Renzo, Anna Jamry-Dziurla, Alessandro Pezzutto, Valeria Manca, Adele Mitrotti, Domenico Santoro, Giovanni Conti, Marida Martino, Mario Giordano, Loreto Gesualdo, Lada Zibar, Giuseppe Masnata, Mario Bonomini, Daniele Alberti, Gaetano La Manna, Yasar Caliskan, Andrea Ranghino, Pierluigi Marzuillo, Krzysztof Kiryluk, Grazyna Krzemien, Monika Miklaszewska, Fangming Lin, Giovanni Montini, Francesco Scolari, Enrico Fiaccadori, Adela Arapovic, Marijan Saraga, James McKiernan, Shumyle Alam, Marcin Zaniew, Maria Szczepanska, Agnieszka Szmigielska, Przemyslaw Sikora, Dorota Drozdz, Malgorzata Mizerska-Wasiak, Shrikant Mane, Richard P. Lifton, Velibor Tasic, Anna Latos-Bielenska, Ali G. Gharavi, Gian Marco Ghiggeri, Anna Materna-Kiryluk, Rik Westland, Simone Sanna-Cherchi
Summary: In this study, a comprehensive genomic screen was conducted on 733 cases of congenital obstructive uropathy (COU), revealing pathogenic single nucleotide variants (SNVs) in 7.2% of cases and genomic disorders (GDs) in 3.1% of cases. There were no significant differences in the overall diagnostic yield between different COU sub-phenotypes, suggesting a common molecular basis for COU phenotypes. However, mutations in the TNXB gene were more frequently identified in COU-NOS cases, highlighting the diagnostic challenge in distinguishing COU from hydronephrosis secondary to vesicoureteral reflux. The study also identified high genetic heterogeneity and suggested MYH11 as a dosage-sensitive gene possibly correlated with the severity of COU.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Review
Medicine, General & Internal
Rosario Vasta, Ruth Chia, Bryan J. Traynor, Adriano Chio
Summary: This review discusses the role of genetic and environmental factors in motor neuron degeneration and suggests that gene-environment interactions may contribute to the unknown etiology of ALS. Climate is the underlying basis for multiple environmental factors, and the impact of global temperature increase on gene-environment interactions should be monitored.
Review
Pediatrics
Ying-Hu Chen, Jin-Gan Lou, Zi-Hao Yang, Qing-Jiang Chen, Chun-Zhen Hua, Sheng Ye, Chen-Mei Zhang, Jie Chen, Zong-Wei Huang, Jin-Dan Yu, Zhi-Gang Gao, Qiang Shu
Summary: Severe acute hepatitis of unknown etiology in children is exhibiting a global trend of concentrated occurrence. Most cases tested positive for adenovirus, and immunoreactivity was detected in liver samples. Treatment includes symptomatic and supportive therapy, management of coagulation disorders and hepatic encephalopathy, and liver transplantation.
WORLD JOURNAL OF PEDIATRICS
(2022)
Review
Medicine, General & Internal
Andrea Ottaviani, Davide Mansour, Lorenzo V. Molinari, Kristian Galanti, Cesare Mantini, Mohammed Y. Khanji, Anwar A. Chahal, Marco Zimarino, Giulia Renda, Luigi Sciarra, Francesco Pelliccia, Sabina Gallina, Fabrizio Ricci
Summary: This narrative review provides a comprehensive overview of current clinical practice and emerging therapeutic strategies for sarcomeric HCM, with a focus on cardiac myosin inhibitors. It highlights the limitations of conventional management and discusses recent advances in molecular genetics and emerging therapies, including gene editing, RNA-based therapies, and targeted small molecules. It emphasizes the importance of multidisciplinary care and patient-centered approaches, as well as the need for further research and collaboration in the field of HCM.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Genetics & Heredity
Stephanie Portelli, Amanda Albanaz, Douglas Eduardo Valente Pires, David Benjamin Ascher
Summary: The researchers curated the most comprehensive database of missense mutations in amyotrophic lateral sclerosis (ALS) and identified distinct molecular drivers for different gene mutations, providing important clues for further ALS research.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Gastroenterology & Hepatology
Tenghao Zheng, David Ellinghaus, Simonas Juzenas, Francois Cossais, Greta Burmeister, Gabriele Mayr, Isabella Friis Jorgensen, Maris Teder-Laving, Anne Heidi Skogholt, Sisi Chen, Peter R. Strege, Go Ito, Karina Banasik, Thomas Becker, Frank Bokelmann, Soren Brunak, Stephan Buch, Hartmut Clausnitzer, Christian Datz, Frauke Degenhardt, Marek Doniec, Christian Erikstrup, Tonu Esko, Michael Forster, Norbert Frey, Lars G. Fritsche, Maiken Elvestad Gabrielsen, Tobias Grassle, Andrea Gsur, Justus Gross, Jochen Hampe, Alexander Hendricks, Sebastian Hinz, Kristian Hveem, Johannes Jongen, Ralf Junker, Tom Hemming Karlsen, Georg Hemmrich-Stanisak, Wolfgang Kruis, Juozas Kupcinskas, Tilman Laubert, Philip C. Rosenstiel, Christoph Roecken, Matthias Laudes, Fabian H. Leendertz, Wolfgang Lieb, Verena Limperger, Nikolaos Margetis, Kerstin Matz-Rensing, Christopher Georg Nemeth, Eivind Ness-Jensen, Ulrike Nowak-Gottl, Anita Pandit, Ole Birger Pedersen, Hans Gunter Peleikis, Kenneth Peuker, Cristina Leal Rodriguez, Malte Christoph Ruehlemann, Bodo Schniewind, Martin Schulzky, Jurgita Skieceviciene, Jurgen Tepel, Laurent Thomas, Florian Uellendahl-Werth, Henrik Ullum, Ilka Vogel, Henry Volzke, Lorenzo von Fersen, Witigo von Schonfels, Brett Vanderwerff, Julia Wilking, Michael Wittig, Sebastian Zeissig, Myrko Zobel, Matthew Zawistowski, Vladimir Vacic, Olga Sazonova, Elizabeth S. Noblin, Gianrico Farrugia, Arthur Beyder, Thilo Wedel, Volker Kahlke, Clemens Schafmayer, Mauro D'Amato, Andre Franke
Summary: Haemorrhoidal disease (HEM) has a genetic component that predisposes to smooth muscle, epithelial and connective tissue dysfunction. Genetic correlation analyses show associations with diseases from GI, neuroaffective and cardiovascular domains, and HEM polygenic risk scores are correlated with younger age of onset and recurrent surgery, indicating potential for identifying at-risk individuals. Functional annotation and network transcriptomic analyses highlight genes and pathways related to blood vessels, GI tissues, and development of musculoskeletal and epidermal systems in HEM.
Review
Clinical Neurology
Diane B. Re, Beizhan Yan, Lilian Calderon-Garciduenas, Angeline S. Andrew, Maeve Tischbein, Elijah W. Stommel
Summary: Multiple studies show that US veterans are at higher risk of developing ALS compared to civilians, possibly due to neurotoxic exposures experienced during their service. However, limited research has been done on the specific causes of ALS in veterans and biomarker-based assessment of their exposures.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Maurizio Grassano, Andrea Calvo, Cristina Moglia, Luca Sbaiz, Maura Brunetti, Marco Barberis, Federico Casale, Umberto Manera, Rosario Vasta, Antonio Canosa, Sandra D'Alfonso, Lucia Corrado, Letizia Mazzini, Clifton Dalgard, Ramita Karra, Ruth Chia, Bryan Traynor, Adriano Chio
Summary: This study evaluated the diagnostic yield and advantages of whole-genome sequencing (WGS) as a standard diagnostic test for Amyotrophic Lateral Sclerosis (ALS). The results showed that WGS had a high diagnostic yield and lower cost compared to conventional strategies. It also identified differences in mutation rates between early-onset and late-onset ALS patients, and found additional genetic factors that worsen prognosis. Therefore, WGS should be considered as the standard genetic testing for all ALS patients.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Article
Psychiatry
Kenneth S. Kendler, Astrid Klee
Summary: In his 1933 article, Bruno Schulz reported a follow-up study on schizophrenic probands and their relatives, exploring the validity of using schizophrenia as a unit-character for genetic analysis. He proposed different subgroupings of probands and compared them based on risk for schizophrenia in siblings and resemblance among affected pairs. His findings raised important questions about the clinical and etiological heterogeneity of schizophrenia.
SCHIZOPHRENIA BULLETIN
(2022)