Article
Pharmacology & Pharmacy
Stanley Niznik, Micha J. Rapoport, Orly Avnery, Aharon Lubetsky, Ronen Shavit, Martin H. Ellis, Nancy Agmon-Levin
Summary: Thrombotic events following diagnosis are common among female patients with primary antiphospholipid syndrome regardless of disease presentation. Heart valve disease and ANA positivity may be risk factors for thrombosis during follow-up of patients presenting with pure obstetric antiphospholipid syndrome.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Immunology
Stanley Niznik, Micha J. Rapoport, Orly Avnery, Aharon Lubetsky, Soad Haj Yahia, Martin H. Ellis, Nancy Agmon-Levin
Summary: This retrospective study analyzed new thrombotic events in patients with primary antiphospholipid syndrome (pAPS) over a 15-year period. The results showed that re-thrombosis was common in pAPS patients, and different patterns of recurrence were associated with presenting symptoms, specific serological markers, APS manifestations, and comorbidities.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Immunology
Jenny Lingman Framme, Christina Lundqvist, Anna-Carin Lundell, Pauline A. van Schouwenburg, Andri L. Lemarquis, Karolina Thorn, Susanne Lindgren, Judith Gudmundsdottir, Vanja Lundberg, Sofie Degerman, Rolf H. Zetterstrom, Stephan Borte, Lennart Hammarstrom, Esbjorn Telemo, Magnus Hultdin, Mirjam van der Burg, Anders Fasth, Solveig Oskarsdottir, Olov Ekwall
Summary: This long-term follow-up study reveals that individuals with 22q11DS and low TRECs have persistent immunologic abnormalities and increased risk for immune dysregulation, indicating the necessity of lifelong monitoring.
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Article
Pediatrics
Dandan Wu, Rong Li
Summary: Patients with KLEFS2 experience feeding difficulties and developmental delays in early age, and ADHD in preschool and school age. Early nutritional support and family rehabilitation can help with developmental delay, while behavioral and pharmaceutical interventions are effective in managing ADHD.
FRONTIERS IN PEDIATRICS
(2022)
Article
Gastroenterology & Hepatology
Rithvik Golla, Sudheer Vuyyuru, Bhaskar Kante, Peeyush Kumar, David Mathew Thomas, Govind Makharia, Saurabh Kedia, Vineet Ahuja
Summary: This study examined the frequency, spectrum, and risk factors of post infection functional gastrointestinal disorders/disorders of gut-brain interaction (PI-FGID/DGBI) after COVID-19. The results showed a significantly higher number of PI-FGID/DGBI cases in COVID-19 patients compared to healthy controls at 3 and 6 months of follow-up. These findings are important for understanding and managing the long-term effects of COVID-19.
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY
(2023)
Article
Oncology
Geert Spierenburg, Peter Grimison, Christine Chevreau, Silvia Stacchiotti, Sophie Piperno-Neumann, Axel Le Cesne, Virginia Ferraresi, Antoine Italiano, Florence Duffaud, Nicolas Penel, Severine Metzger, Sylvie Chabaud, Lizz van der Heijden, David Perol, Michiel A. J. van de Sande, Jean-Yves Blay, Hans Gelderblom
Summary: Long-term analysis of nilotinib for advanced D-TGCT showed approximately half of patients experienced progression and required additional treatment after 8.5 years, while some patients maintained disease control after limited treatment duration.
EUROPEAN JOURNAL OF CANCER
(2022)
Article
Oncology
Agnes Dumas, Karen Milcent, Nicolas Bougas, Daniel Bejarano-Quisoboni, Chiraz El Fayech, Helene Charreire, Odile Oberlin, Catherine Patte, Julie Allard, Eric Thebault, Amel Boumaraf, Amel Belhout, Vu-Bezin Giao, Vincent Souchard, Angela Jackson, Rodrigue Allodji, Dominique Valteau-Couanet, Christelle Dufour, Gilles Vassal, Nadia Haddy, Florent De Vathaire, Brice Fresneau
Summary: The study found that patients who received combined chemotherapy and radiotherapy, had bone sarcoma, central nervous system primitive tumor, or underwent autologous hematopoietic cell transplant were more likely to attend long-term follow-up visits. Additionally, factors such as health status, medical expenses, social status, and distance from the follow-up center also influenced attendance.
Article
Multidisciplinary Sciences
Carlos Roberto Ribeiro Carvalho, Celina Almeida Lamas, Rodrigo Caruso Chate, Joao Marcos Salge, Marcio Valente Yamada Sawamura, Andre L. P. de Albuquerque, Carlos Toufen Jr, Daniel Mario Lima, Michelle Louvaes Garcia, Paula Gobi Scudeller, Cesar Higa Nomura, Marco Antonio Gutierrez, Bruno Guedes Baldi
Summary: This study aimed to investigate the long-term consequences of COVID-19 on the respiratory system of patients discharged from the hospital ICU and identify risk factors associated with chest CT lesion severity. The results showed that COVID-19 CT lesions were found in 81.8% of patients, and half of them exhibited mild restrictive lung impairment and impaired lung diffusion capacity. Male sex, ICU and invasive mechanic ventilation period, tracheostomy, and vasoactive drug need during hospitalization were identified as predictors of CT lesion severity.
Article
Endocrinology & Metabolism
Daniel Bengtsson, Oskar Ragnarsson, Katarina Berinder, Per Dahlqvist, Britt Eden Engstrom, Bertil Ekman, Charlotte Hoybye, Pia Burman, Jeanette Wahlberg
Summary: This study found that the use of psychotropic drugs such as antidepressants and sleeping pills was more common in CD patients before diagnosis and remained elevated regardless of remission status, indicating a persisting negative impact on mental health. Early diagnosis of CD and long-term monitoring of mental health are highlighted as important.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Clinical Neurology
Mette Moller Handrup, Henning Molgaard, Brian N. Andersen, John R. Ostergaard
Summary: The article "Translation: The use of pacemaker treatment in Juvenile Neuronal Ceroid Lipofuscinosis" introduces the application of pacemaker treatment for patients with Juvenile Neuronal Ceroid Lipofuscinosis and conducts a follow-up study on the original Danish CLN3-heart population, indicating that pacemaker treatment has a significant impact on the quality of life of patients.
FRONTIERS IN NEUROLOGY
(2022)
Article
Medicine, General & Internal
Cecile Chung, Sebastien Bommart, Sylvain Marchand-Adam, Mathieu Lederlin, Ludovic Fournel, Marie-Christine Charpentier, Lionel Groussin, Marie Wislez, Marie-Pierre Revel, Guillaume Chassagnon
Summary: The study found that in long-term follow-up, DIPNECH patients showed an increase in the size of lung nodules, with a low incidence of metastatic spread mostly limited to lymph nodes. Therefore, it is recommended to conduct long-term annual imaging follow-up of DIPNECH to encompass the heterogeneous longitudinal behavior of this disease.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Psychology, Clinical
K. Jean Forney, Ross D. Crosby, Tiffany A. Brown, Kelly M. Klein, Pamela K. Keel
Summary: The study revealed that 58% of patients with PD still met criteria for an eating disorder at follow-up, with only 30% achieving full recovery. While there was improvement in eating pathology, mental health and quality of life were still affected.
PSYCHOLOGICAL MEDICINE
(2021)
Article
Rheumatology
Tsung-Ying Li, Si-Ru Chen, Yu-Ping Shen, Chih-Ya Chang, Yu-Chi Su, Liang-Cheng Chen, Yung-Tsan Wu
Summary: Perineural injection therapy with 5% dextrose water is effective in treating carpal tunnel syndrome in the long term, with 88.6% of patients reporting positive outcomes. Severity level of the condition is significantly associated with treatment outcomes, with more severe cases requiring more injections for efficacy.
Article
Obstetrics & Gynecology
Jolanda van Keizerswaard, Alexandra L. P. Dietz de Loos, Yvonne Louwers, Joop S. E. Laven
Summary: This study assessed the effects of aging on the features of polycystic ovary syndrome (PCOS). The results showed that the prevalence of PCOS phenotype groups changed over time, with a more regular menstrual cycle, decreased serum androgen levels, and improved polycystic ovarian morphology in women with PCOS as they aged.
FERTILITY AND STERILITY
(2022)
Article
Critical Care Medicine
Sohee Park, Jooae Choe, Hye Jeon Hwang, Han Na Noh, Young Ju Jung, Jung-Bok Lee, Kyung-Hyun Do, Eun Jin Chae, Joon Beom Seo
Summary: For individuals with initially detected ILA, follow-up CT at 3-year intervals may be appropriate to monitor radiologic progression; however, those at high risk of adverse outcomes on the basis of the quantified extent of fibrotic ILA and the presence of honeycombing may benefit from shortening the interval for follow-up scans.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
(2023)
Article
Genetics & Heredity
Marion Aubert-Mucca, Celine Huber, Genevieve Baujat, Caroline Michot, Mohammed Zarhrate, Marc Bras, Lucile Boutaud, Valerie Malan, Tania Attie-Bitach, Valerie Cormier-Daire
Summary: We analyzed 50 clinically identified EVC cases from 45 families to further understand the EVC phenotype and its molecular basis. Our study confirmed the major role of EVC and EVC2 genes in EVC syndrome and identified previously unreported copy number variations. We also found a high proportion of heterozygous deletions in EVC/EVC2, mostly inherited from the mother, possibly resulting from recombinations involving Alu sequences.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Genetics & Heredity
Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Celine Huber, Carlos Anton-Plagaro, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Marleen Simon, Ellen van Binsbergen, Richard H. van Jaarsveld, Naomichi Matsumoto, Valerie Cormier-Daire, Peter J. Cullen, Shinji Saitoh, Kohji Kato
Summary: This study reported three new cases of VPS35L-associated Ritscher-Schinzel syndrome (RSS) and investigated the clinical spectrum and underlying molecular mechanism. Novel complications, including hypercholesterolemia, hypogammaglobulinemia, and intestinal lymphangiectasia, were identified in addition to the typical features of RSS. Cellular analysis revealed that VPS35L deficiency decreased the cell surface level of lipoprotein receptor-related protein 1 and low-density lipoprotein receptor, resulting in reduced low-density lipoprotein cellular uptake.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Medicine, Research & Experimental
Sinead NiMhurchadha, Karen Butler, Rob Argent, Katja Palm, Genevieve Baujat, Valerie Cormier-Daire, Klaus Mohnike
Summary: The study aimed to explore the experience of parents and children in initiating and administering vosoritide treatment at home. The findings revealed that parents' decision to take treatment is based on a desire to relieve future medical complications and increase height for improved independence, considering the extent of severe side effects. They manage treatment challenges through perseverance and available support.
ADVANCES IN THERAPY
(2023)
Article
Genetics & Heredity
Sheila Unger, Carlos R. R. Ferreira, Geert R. R. Mortier, Houda Ali, Debora R. Bertola, Alistair Calder, Daniel H. H. Cohn, Valerie Cormier-Daire, Katta M. M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. L. Warman, Andrea Superti-Furga
Summary: The classification of genetic skeletal disorders has been revised in its 11th edition, now including 771 entries associated with 552 genes, reflecting advancements in DNA sequencing technology. The adoption of the dyadic naming system is the most notable change, systematically linking a phenotypic entity to the gene it originates from. This shift is considered a significant improvement, providing more informative and error-resistant nomenclature compared to traditional methods. Despite the adoption of dyadic naming, efforts have been made to maintain a strong connection to the MIM catalog and its historical data. The list of disorders and genes in the Nosology remains valuable for differential diagnosis, bioinformatic analysis, and driving advancements in biology and medicine.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Cardiac & Cardiovascular Systems
Karen L. Kelly, Peter T. Lin, Cristina Basso, Melanie Bois, L. Maximilian Buja, Stephen D. Cohle, Giulia d'Amati, Emily Duncanson, John T. Fallon, Dennis Firchau, Gregory Fishbein, Carla Giordano, Charles Leduc, Silvio H. Litovsky, Shannon Mackey-Bojack, Joseph J. Maleszewski, Katarzyna Michaud, Robert F. Padera, Stavroula A. Papadodima, Sarah Parsons, Stanley J. Radio, Stefania Rizzo, Susan J. Roe, Maria Romero, Mary N. Sheppard, James R. Stone, Carmela D. Tan, Gaetano Thiene, Allard C. van der Wal, John P. Veinot
Summary: Sudden cardiac death is an unexpected death caused by a cardiac condition, accounting for approximately 15-20% of all deaths. It commonly occurs in older adults with acquired heart disease but can also happen in young individuals due to genetic transmission. Investigation of these deaths is crucial due to the potential impact on other family members and the lack of consistent guidelines for cardiac examination in these cases.
CARDIOVASCULAR PATHOLOGY
(2023)
Article
Genetics & Heredity
Marion Aubert-Mucca, Caroline Janel, Valerie Porquet-Bordes, Olivier Patat, Renaud Touraine, Thomas Edouard, Caroline Michot, Aude Tessier, Valerie Cormier-Daire, Tania Attie-Bitach, Genevieve Baujat
Summary: The NADSYN1 gene encodes the NAD synthetase 1 enzyme, which is crucial for NAD biosynthesis and organ embryogenesis. Mutations in NADSYN1 results in a wide range of phenotypic abnormalities. This study reports three new cases, expanding the spectrum of NAD deficiency disorder.
Article
Medicine, General & Internal
Tanayott Thaweethai, Sarah E. Jolley, Elizabeth W. Karlson, Emily B. Levitan, Bruce Levy, Grace A. McComsey, Lisa McCorkell, Girish N. Nadkarni, Sairam Parthasarathy, Upinder Singh, Tiffany A. Walker, Caitlin A. Selvaggi, Daniel J. Shinnick, Carolin C. M. Schulte, Rachel Atchley-Challenner, Leora I. Horwitz, Andrea S. Foulkes
Summary: SARS-CoV-2 infection is associated with persistent, relapsing, or new symptoms or other health effects occurring after acute infection, known as postacute sequelae of SARS-CoV-2 infection (PASC), or long COVID. This study developed a definition of PASC based on self-reported symptoms and described the frequencies of PASC across cohorts, vaccination status, and number of infections.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2023)
Article
Cardiac & Cardiovascular Systems
Vidhya Nair, Gregory A. Fishbein, Robert Padera, Michael A. Seidman, Mathieu Castonguay, Charles Leduc, Carmela D. Tan, E. Rene Rodriguez, Joseph J. Maleszewski, Dylan Miller, Maria Romero, Jon Lomasney, Giulia d'Amati, Monica De Gaspari, Stefania Rizzo, Annalisa Angelini, Cristina Basso, Silvio Litovsky, Louis Maximilian Buja, James R. Stone, John P. Veinot
Summary: Giant cell arteritis (GCA) is the most common systemic vasculitis in adults in Europe and North America, and temporal artery biopsy (TAB) remains the gold standard for diagnosis. To address the lack of uniformity in processing and interpretation of TAB specimens, the Society for Cardiovascular Pathology has established consensus guidelines based on existing literature. The guidelines also discuss differential diagnoses and noninflammatory changes of the temporal artery.
CARDIOVASCULAR PATHOLOGY
(2023)
Article
Endocrinology & Metabolism
Claire L. Meek, Zoe A. Stewart, Denice S. Feig, Samuel Furse, Sandra L. Neoh, Albert Koulman, Helen R. Murphy
Summary: This study found that maternal hyperglycemia and offspring hyperinsulinism in women with type 1 diabetes during pregnancy are associated with perinatal complications and suboptimal pregnancy outcomes. Metabolomic analysis revealed distinct metabolite profiles for different complications, such as increased carnitines and lipid metabolites in large for gestational age infants, and changes in triacylglycerols or dietary phenols in neonatal hypoglycemia and offspring hyperinsulinism. Altered lipid metabolism is a key feature in type 1 diabetes pregnancy, suggesting the need for new strategies to optimize maternal diet and insulin dosing from the first trimester.
Editorial Material
Cardiac & Cardiovascular Systems
James R. Stone
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2023)
Article
Medicine, General & Internal
Tanayott R. Thaweethai, Sarah E. Jolley, Elizabeth Karlson, Emily M. Levitan, Bruce Levy, Grace McComsey, Lisa S. McCorkell, Girish D. Nadkarni, Sairam E. Parthasarathy, Upinder J. Singh, Tiffany Walker, Caitlin W. Selvaggi, Daniel Shinnick, Carolin C. M. P. Schulte, Rachel M. Atchley-Challenner, Leora Horwitz, Andrea Foulkes
Summary: This study aims to develop a definition of postacute sequelae of SARS-CoV-2 infection (PASC) using self-reported symptoms and analyze the frequencies of PASC across different cohorts, vaccination status, and number of infections. The results show that PASC is associated with various symptoms and around 10% of participants were PASC positive at 6 months after infection.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2023)
Article
Genetics & Heredity
Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A. Micheil Innes, Connie Stumpel, Katrin Ounap, Karit Reinson, Eleanor G. Seaby, Shane McKee, Barbara Burton, Katherine Kim, Johanna M. van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine H. Zackai, Sarah E. Sheppard, Beth Keena, Hakon Hakonarson, Andreas Roos, Nicolai Kohlschmidt, Anna Cereda, Maria Iascone, Erika Rebessi, Kristin D. Kernohan, Philippe M. Campeau, Francisca Millan, Jesse A. Taylor, Hanns Lochmuller, Martin R. Higgs, Amalia Goula, Birgitta Bernhard, Danita J. Velasco, Andrew A. Schmanski, Zornitza Stark, Lyndon Gallacher, Lynn Pais, Paul C. Marcogliese, Shinya Yamamoto, Nicholas Raun, Taryn E. Jakub, Jamie M. Kramer, Joery den Hoed, Simon E. Fisher, Han G. Brunner, Tjitske Kleefstra
Summary: We studied WDR5, a broadly studied key protein involved in various biological functions. We found rare de novo germline missense variants in WDR5 that are associated with neurodevelopmental disorders. These variants may disrupt interactions of WDR5 with crucial proteins such as RbBP5 and/or KMT2A/C.
HUMAN GENETICS AND GENOMICS ADVANCES
(2023)
Meeting Abstract
Biochemistry & Molecular Biology
Liselot van der Laan, Eline Verberne, Sadegheh Haghshenas, Kathleen Rooney, Michael Levy, Marielle Alders, Saskia M. Maas, Sandra Jansen, Agne Lieden, Britt M. Anderlid, Louise Rafael-Croes, Philippe M. Campeau, Ayeshah Chaudhry, David Koolen, Rolph Pfunt, Anna C. E. Hurst, Frederic Tran Mau-Them, Laetitia Lamber, Ange-Line Bruel, Bertrand Isidor, Marcel Mannens, Bekim Sadikovic, Peter Henneman, Mieke van Haelst
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Meeting Abstract
Biochemistry & Molecular Biology
Kornelia Ellwanger, Eva Bermejo-Sanchez, Evangelista Teresinha, Nicoline Hoogerbrugge, Vincenzo Nigro, Rebecca Schuele, Alain Verloes, Han Brunner, Philippe M. Campeau, Paul Lasko, Birte Zurek, Holm Graessner, Olaf Riess
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)