Review
Dermatology
Carla Stephan, Mazen Kurban, Ossama Abbas
Summary: Dowling-Degos disease is a rare autosomal dominant genodermatosis characterized by hyperpigmentation, follicular papules, and pitted scars. Mutations in genes affecting melanosome transfer and cell differentiation are implicated in its pathogenesis. The disease can occur in isolation or with associated findings, most notably hidradenitis suppurativa, and is generally progressive and difficult to treat.
INTERNATIONAL JOURNAL OF DERMATOLOGY
(2021)
Review
Dermatology
Katharina Papadopoulou, Syrus Karsai, Almut Boeer-Auer
Summary: Dowling-Degos disease is a rare benign genodermatosis characterized by hyperpigmentation and reddish-brown papules and plaques. Mutations in different genes lead to varied clinical manifestations, with new therapeutic approaches such as laser technology showing promise as a treatment option.
JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT
(2022)
Review
Dermatology
Katharina Papadopoulou, Syrus Karsai, Almut Boeer-Auer
Summary: Dowling-Degos disease is a rare benign genodermatosis characterized by lentiginous hyperpigmentation and reddish-brown papules and plaques. Mutations in different genes lead to variations in clinical manifestations, while treatment options remain limited with varying effectiveness. Laser technology shows promise as a potential therapeutic approach.
JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT
(2022)
Article
Genetics & Heredity
Margot A. Cousin, Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu, Swarnendu Tripathi, Deepa Ajit, Reginald J. Edwards, Simone Afriyie, Julia C. Bay, Kathryn M. Harper, Alvaro A. Beltran, Lorena J. Munoz, Liset Falcon Rodriguez, Michael C. Stankewich, Richard E. Person, Yue Si, Elizabeth A. Normand, Amy Blevins, Alison S. May, Louise Bier, Vimla Aggarwal, Grazia M. S. Mancini, Marjon A. van Slegtenhorst, Kirsten Cremer, Jessica Becker, Hartmut Engels, Stefan Aretz, Jennifer J. MacKenzie, Eva Brilstra, Koen L. I. van Gassen, Richard H. van Jaarsveld, Renske Oegema, Gretchen M. Parsons, Paul Mark, Ingo Helbig, Sarah E. McKeown, Robert Stratton, Benjamin Cogne, Bertrand Isidor, Pilar Cacheiro, Damian Smedley, Helen V. Firth, Tatjana Bierhals, Katja Kloth, Deike Weiss, Cecilia Fairley, Joseph T. Shieh, Amy Kritzer, Parul Jayakar, Evangeline Kurtz-Nelson, Raphael A. Bernier, Tianyun Wang, Evan E. Eichler, Ingrid M. B. H. van de Laar, Allyn McConkie-Rosell, Marie T. McDonald, Jennifer Kemppainen, Brendan C. Lanpher, Laura E. Schultz-Rogers, Lauren B. Gunderson, Pavel N. Pichurin, Grace Yoon, Michael Zech, Robert Jech, Juliane Winkelmann, Adriana S. Beltran, Michael T. Zimmermann, Brenda Temple, Sheryl S. Moy, Eric W. Klee, Queenie K. -G. Tan, Damaris N. Lorenzo
Summary: SPTBN1 mutations cause a neurodevelopmental syndrome with intellectual disability, language and motor delays, and other features. Heterozygous SPTBN1 variants disrupt beta II-spectrin stability, binding to molecular partners, and disturb cytoskeleton organization and dynamics, suggesting compromise of neural development and function. This study expands the understanding of spectrinopathies affecting the brain and highlights the critical role of beta II-spectrin in the central nervous system.
Article
Endocrinology & Metabolism
Yang Xu, Zeng Zhang, Hua Yue, Shanshan Li, Zhenlin Zhang
Summary: The study identified SLCO2A1 monoallelic mutations as the cause of PHOAD, with milder symptoms compared to PHOAR2, as well as a positive response to oral etoricoxib treatment.
JOURNAL OF BONE AND MINERAL RESEARCH
(2021)
Article
Medicine, General & Internal
Tao Zhang, Jingshan Bai, Xinyi Zhang, Xiaowei Zheng, Nan Lu, Zhongyin Liang, Ling Lin, Yongsong Chen
Summary: This study identified a novel heterozygous SNRNP200(c.C6088T) mutation that causes retinitis pigmentosa through a dominant-negative effect.
FRONTIERS IN MEDICINE
(2021)
Article
Genetics & Heredity
Sarah R. Senum, Ying (Sabrina) M. Li, Katherine A. Benson, Giancarlo Joli, Eric Olinger, Sravanthi Lavu, Charles D. Madsen, Adriana V. Gregory, Ruxandra Neatu, Timothy L. Kline, Marie -Pierre Audrezet, Patricia Outeda, Cherie B. Nau, Esther Meijer, Hamad Ali, Theodore I. Steinman, Michal Mrug, Paul J. Phelan, Terry J. Watnick, Dorien J. M. Peters, Albert C. M. Ong, Peter J. Conlon, Ronald D. Perrone, Emilie Cornec-Le Gall, Marie C. Hogan, Vicente E. Torres, John A. Saver, Peter C. Harris
Summary: This study identifies a link between the IFT140 gene and autosomal dominant polycystic kidney disease (ADPKD). The monoallelic variation of IFT140 is associated with mild PKD phenotype, while the biallelic variation is linked to a syndromic ciliopathy. The findings also suggest that the monoallelic IFT140 variation is relatively common among cystic kidney disease patients.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Clinical Neurology
Jonai Pujol-Gimenez, Ghayda Mirzaa, Elizabeth E. Blue, Giuseppe Albano, Danny E. Miller, Aimee Allworth, James T. Bennett, Peter H. Byers, Sirisak Chanprasert, Jingheng Chen, Daniel Doherty, Andrew B. Folta, Madelyn A. Gillentine, Ian Glass, Anne Hing, Martha Horike-Pyne, Kathleen A. Leppig, Azma Parhin, Jane Ranchalis, Wendy H. Raskind, Elisabeth A. Rosenthal, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, Virginia P. Sybert, Andrew Timms, Mark Wener, Michael J. Bamshad, Fuki M. Hisama, Gail P. Jarvik, Katrina M. Dipple, Matthias A. Hediger, Andrew B. Stergachis
Summary: SLC1A4 is important for transporting L-serine from astrocytes into neurons. Biallelic variants in SLC1A4 cause SPATCCM syndrome, while heterozygous variants are not associated with disease. We identified a patient with developmental delay, spasticity, epilepsy, and microcephaly who had a de novo heterozygous three amino acid duplication in SLC1A4, resulting in a dominant-negative defect of the protein.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Article
Genetics & Heredity
Guillaume Olivier, Marta Corton, Daniela Intartaglia, Sanne K. Verbakel, Panagiotis Sergouniotis, Guylene Le Meur, Claire-Marie Dhaenens, Helene Naacke, Almudena Avila-Fernandez, Carel B. Hoyng, Jeroen Klevering, Beatrice Bocquet, Agathe Roubertie, Audrey Senechal, Sandro Banfi, Agnes Muller, Christian L. Hamel, Graeme C. Black, Ivan Conte, Susanne Roosing, Xavier Zanlonghi, Carmen Ayuso, Isabelle Meunier, Gael Manes
Summary: This study reveals a previously unreported association between monoallelic or biallelic IMPG1 variants and RP, as well as the identification of new genetic variants associated with this gene. The clinical diagnosis of the IMPG1 retinopathy-associated variant has been revised from benign concentric annular macular dystrophy to RP with early macular involvement.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Genetics & Heredity
Hanan E. Shamseldin, Nada Derar, Hamad Alzaidan, Naif AlHathal, Abdullah Alfalah, Firdous Abdulwahab, Tariq Alzaid, Salim Alkeraye, Saud A. Alobaida, Fowzan S. Alkuraya
Summary: This article reports two consanguineous families with congenital ichthyosis, and identifies novel homozygous likely deleterious variants in PRSS8 through positional mapping and exome sequencing. The variant affecting canonical splice site was associated with reduced abundance of the normal transcript, while the missense variant altered a highly conserved residue. The phenotype observed in Prss8 knockout mice resembles the symptoms in human patients, suggesting a novel PRSS8-related ichthyosis disorder.
Article
Clinical Neurology
Marie Coutelier, Maxime Jacoupy, Alexandre Janer, Flore Renaud, Nicolas Auger, Ganapathi-Varma Saripella, Francois Ancien, Fabrizio Pucci, Marianne Rooman, Dimitri Gilis, Roxanne Lariviere, Nicolas Sgarioto, Remi Valter, Lena Guillot-Noel, Isabelle Le Ber, Sabrina Sayah, Perrine Charles, Astrid Nuemann, Martje G. Pauly, Christoph Helmchen, Natalie Deininger, Tobias B. Haack, Bernard Brais, Alexis Brice, David-Alexandre Tregouet, Khalid H. El Hachimi, Eric A. Shoubridge, Alexandra Durr, Giovanni Stevanin
Summary: With exome sequencing and linkage analysis, we identified an association between NPTX1 gene and autosomal dominant cerebellar ataxias. Two missense variants in NPTX1 were found to induce endoplasmic reticulum stress and destabilize neuronal pentraxin 1 polymers.
Article
Clinical Neurology
Junyu Lin, Chunyu Li, Yiyuan Cui, Yanbing Hou, Lingyu Zhang, Ruwei Ou, Qianqian Wei, Kuncheng Liu, Tianmi Yang, Yi Xiao, Qirui Jiang, Bi Zhao, Jing Yang, Xueping Chen, Huifang Shang
Summary: This study conducted exome sequencing to evaluate the genetic associations of IMPDH2 with dystonia in a Chinese cohort. Rare variants in IMPDH2 were detected in four patients with dystonia, and two of them were confirmed to be pathogenic or likely pathogenic. Gene burden analysis showed enrichment of rare variants in IMPDH2. The findings contribute to the understanding of the role of IMPDH2 in autosomal dominant dystonia and expand the genetic spectrum of this gene.
JOURNAL OF NEUROLOGY
(2023)
Article
Dermatology
Zhuoqing Gong, Shangzhi Dai, Xingyuan Jiang, Mingyang Lee, Xuejun Zhu, Huijun Wang, Zhimiao Lin
Summary: Two missense variants in KLK11 affecting Gly50 were identified in three unrelated cases with an autosomal-dominant cornification disorder characterized by abnormal skin desquamation. Experimental analyses confirmed the pathogenicity of these variants and emphasized the important role of KLK11 in the regulation of skin desquamation. This study provides insights into the development of therapeutic options for disorders with skin barrier dysfunction.
BRITISH JOURNAL OF DERMATOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Tomoki Kimura, Haruna Kawano, Satoru Muto, Nobuhito Muramoto, Toshiaki Takano, Yan Lu, Hidetaka Eguchi, Hiroo Wada, Yasushi Okazaki, Hisamitsu Ide, Shigeo Horie
Summary: This study investigated the prognostic utility of genetic mutations in predicting renal function outcomes in Japanese patients with autosomal dominant polycystic kidney disease (ADPKD). The results showed that PKD1 mutation is a biomarker for predicting renal prognosis in ADPKD patients.
Article
Biochemistry & Molecular Biology
Ange-Line Bruel, Antonio Vitobello, Isabelle Thiffault, Linda Manwaring, Marcia Willing, Pankaj B. Agrawal, Allan Bayat, Thomas M. Kitzler, Catherine A. Brownstein, Casie A. Genetti, Joseph Gonzalez-Heydrich, Parul Jayakar, Jacob W. Zyskind, Zehua Zhu, Clemence Vachet, Gena R. Wilson, Brianna Pruniski, Anne-Marie Goyette, Yannis Duffourd, Christel Thauvin-Robinet, Christophe Philippe, Laurence Faivre
Summary: The study confirms the important role of the ITSN1 gene in neurodevelopmental disorders such as autism. Truncating variants and missense variants in ITSN1 exhibit different patterns and symptoms in affected patients.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Clinical Neurology
Javier A. Lopez-Rivera, Costin Leu, Marie Macnee, Jean Khoury, Lucas Hoffmann, Roland Coras, Katja Kobow, Nisha Bhattarai, Eduardo Perez-Palma, Hajo Hamer, Sebastian Brandner, Karl Roessler, Christian G. Bien, Thilo Kalbhenn, Tom Pieper, Till Hartlieb, Elizabeth Butler, Giulio Genovese, Kerstin Becker, Janine Altmueller, Lisa-Marie Niestroj, Lisa Ferguson, Robyn M. Busch, Peter Nuernberg, Imad Najm, Ingmar Bluemcke, Dennis Lal
Summary: Lopez-Rivera et al. conducted a study on the genetic architecture of different types of epileptic brain lesions. They discovered novel somatic chromosomal alterations, identified new genes and genotype-phenotype associations, and supported the role of genetics in the histopathological diagnosis of epileptic lesions. The findings provide valuable insights for improving treatment of drug-resistant focal epilepsy.
Letter
Genetics & Heredity
Ilyas Ahmad, Ayaz Khan, Hafiza Noor Ul Ayan, Birgit Budde, Janine Altmueller, Asad Aslam Korejo, Gudrun Nurnberg, Holger Thiele, Muhmmad Tariq, Peter Nuernberg, Jeanette Erdmann
JOURNAL OF HUMAN GENETICS
(2023)
Article
Immunology
Norman Mangner, Vassili Panagides, David del Val, Mohamed Abdel-Wahab, Lisa Crusius, Eric Durand, Nikolaj Ihlemann, Marina Urena, Costanza Pellegrini, Francesco Giannini, Tomasz Gasior, Wojtek Wojakowski, Martin Landt, Vincent Auffret, Jan-Malte Sinning, Asim N. Cheema, Luis Nombela-Franco, Chekrallah Chamandi, Francisco Campelo-Parada, Erika Munoz-Garcia, Howard C. Herrmann, Luca Testa, Won-Keun Kim, Helene Eltchaninoff, Lars Sondergaard, Dominique Himbert, Oliver Husser, Azeem Latib, Herve Le Breton, Clement Servoz, Philippe Gervais, Melanie Cote, Holger Thiele, David Holzhey, Axel Linke, Josep Rodes-Cabau
Summary: In transcatheter aortic valve related infective endocarditis (IE), absent echocardiographic signs of IE were associated with the same prognosis as evident echocardiographic signs, highlighting the need for early treatment initiation in high-risk patients presenting with positive blood cultures and symptoms of infection after TAVI.
CLINICAL INFECTIOUS DISEASES
(2023)
Article
Cardiac & Cardiovascular Systems
Andrea Scotti, Augustin Coisne, Maurizio Taramasso, Juan F. Granada, Sebastian Ludwig, Josep Rodes-Cabau, Philipp Lurz, Jorg Hausleiter, Neil Fam, Susheel K. Kodali, Joel Rosiene, Ari Feinberg, Alberto Pozzoli, Hannes Alessandrini, Luigi Biasco, Eric Brochet, Paolo Denti, Rodrigo Estevez-Loureiro, Christian Frerker, Edwin C. Ho, Vanessa Monivas, Georg Nickenig, Fabien Praz, Rishi Puri, Horst Sievert, Gilbert H. L. Tang, Martin Andreas, Ralph Stephan Von Bardeleben, Karl-Philipp Rommel, Guillem Muntane-Carol, Mara Gavazzoni, Daniel Braun, Benedikt Koell, Daniel Kalbacher, Kim A. Connelly, Jean-Michel Juliard, Claudia Harr, Giovanni Pedrazzini, Giulio Russo, Francois Philippon, Joachim Schofer, Holger Thiele, Matthias Unterhuber, Dominique Himbert, Marina Urena Alcazar, Mirjam G. Wild, Stephan Windecker, Ulrich Jorde, Francesco Maisano, Martin B. Leon, Rebecca T. Hahn, Azeem Latib
Summary: This study aimed to investigate the impact of sex on treatment outcomes in patients with significant tricuspid regurgitation (TR) undergoing transcatheter tricuspid valve intervention (TTVI). The results showed no significant differences between women and men in terms of 1-year survival, heart failure hospitalization, functional status, and severity of TR after TTVI. Multivariable Cox-regression analysis with inverse probability of treatment weighting (IPTW) demonstrated that TTVI was associated with improved 1-year survival compared to medical therapy alone in both women and men.
EUROPEAN HEART JOURNAL
(2023)
Editorial Material
Cardiac & Cardiovascular Systems
Holger Thiele, Steffen Desch, Anne Freund
EUROPEAN HEART JOURNAL
(2023)
Article
Oncology
Carolina Rosswog, Jana Fassunke, Angela Ernst, Birgid Schoemig-Markiefka, Sabine Merkelbach-Bruse, Christoph Bartenhagen, Maria Cartolano, Sandra Ackermann, Jessica Theissen, Mirjam Blattner-Johnson, Barbara Jones, Kathrin Schramm, Janine Altmueller, Peter Nuernberg, Monika Ortmann, Frank Berthold, Martin Peifer, Reinhard Buettner, Frank Westermann, Johannes H. Schulte, Thorsten Simon, Barbara Hero, Matthias Fischer
Summary: Genomic alterations of the ALK gene occur recurrently in neuroblastoma, with ALK mutations occurring in 10.5% of cases at diagnosis and increasing by 70% at relapse. However, the frequency of ALK amplifications does not change over the course of the disease. Regular monitoring of the genomic ALK status and evaluation of ALK-targeted treatment in intermediate-risk patients is recommended.
BRITISH JOURNAL OF CANCER
(2023)
Article
Cardiac & Cardiovascular Systems
Sebastian Ludwig, Niklas Schofer, Mohamed Abdel-Wahab, Marina Urena, Guillaume Jean, Matthias Renker, Christian W. Hamm, Holger Thiele, Bernard Iung, Joris F. Ooms, Maya Wiessman, Nils S. B. Mogensen, Benjamin Longere, Nils Perrin, Walid Ben Ali, Augustin Coisne, Jordi S. Dahl, Nicolas M. Van Mieghem, Ran Kornowski, Won-Keun Kim, Marie-Annick Clavel
Summary: This study aimed to assess the outcomes of patients with nonsevere aortic stenosis (AS) and heart failure undergoing transcatheter aortic valve replacement (TAVR) or medical management. The results showed that TAVR was a major predictor of superior survival compared with medical management. These findings highlight the need for randomized-controlled trials comparing TAVR versus medical management in heart failure patients with nonsevere AS.
CIRCULATION-CARDIOVASCULAR INTERVENTIONS
(2023)
Article
Cardiac & Cardiovascular Systems
Uri Landes, Aviram Hochstadt, Lisa Manevich, John G. Webb, Janarthanan Sathananthan, Horst Sievert, Kerstin Piayda, Martin B. Leon, Tamim M. Nazif, David Hildick-Smith, Chris Pavitt, Holger Thiele, Mohamed Abdel-Wahab, Nicolas M. Van Mieghem, Rik Adrichem, Lars Sondergaard, Ole De Backer, Raj R. Makkar, Ofir Koren, Thomas Pilgrim, Taishi Okuno, Ran Kornowski, Pablo Codner, Ariel Finkelstein, Itamar Loewenstein, Israel Barbash, Amir Sharon, Federico De Marco, Matteo Montorfano, Nicola Buzzatti, Azeem Latib, Andrea Scotti, Won-Keun Kim, Christian Hamm, Luis Nombela Franco, Antonio Mangieri, Wolfgang H. Schoels, Marco Barbanti, Matjaz Bunc, Myriama Akodad, Ronen Rubinshtein, Haim Danenberg
Summary: This study investigated the effect of transcatheter interventions to treat paravalvular regurgitation (PVR) after transcatheter aortic valve implantation (TAVI). The results showed that patients with successful reduction of PVR had better prognosis, but further investigation is needed to determine the selection of patients and the optimal treatment modality for PVR.
EUROPEAN HEART JOURNAL
(2023)
Article
Genetics & Heredity
Franziska Schnabel, Elisabeth Schuler, Almundher Al-Maawali, Ankur Chaurasia, Steffen Syrbe, Adila Al-Kindi, Gandham SriLakshmi Bhavani, Anju Shukla, Janine Altmueller, Peter Nuernberg, Siddharth Banka, Katta M. Girisha, Yun Li, Bernd Wollnik, Goekhan Yigit
Summary: This study reports five patients from three families with a disorder characterized by congenital joint contractures affecting multiple body parts, including shoulder, elbow, hand, hip, knee, and foot, as well as scoliosis, reduced palmar and plantar skin folds, microcephaly, and facial dysmorphism. Exome sequencing identified homozygous truncating variants in the FILIP1 gene in all patients. FILIP1 is involved in the regulation of filamin homeostasis and is essential for cortical cell migration and muscle cell differentiation.
Article
Biochemistry & Molecular Biology
Petra Buettner, Julia Boettner, Knut Krohn, Ronny Baber, Uwe Platzbecker, Michael Cross, Steffen Desch, Holger Thiele, Sabine Steiner, Dierk Scheinert, Klaus H. Metzeler, Daniela Branzan
Summary: In this pilot study, it was found that clonal hematopoiesis (CH)-associated mutations can be detected in both peripheral blood cells and tissues associated with atherosclerosis, suggesting a potential impact on disease physiology.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Immunology
Tanja Fetter, Dennis Marinus de Graaf, Isabelle Claus, Joerg Wenzel
Summary: Autoimmune skin diseases involve the immune system attacking self-tissues, and inflammasomes are large protein complexes that contribute to the progression of these diseases. Inflammasomes, specifically NLRP1, NLRP3, and AIM2, have been found to play a role in inflammatory skin conditions. Dysregulation of inflammasomes has been implicated in various autoimmune skin diseases, including vitiligo, alopecia areata, lichen planus, cutaneous lupus erythematosus, and bullous pemphigoid. Further research on inflammasome dysregulation and its impact on adaptive immune responses could lead to new therapeutic options in the future.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Clinical Neurology
Sophie von Brauchitsch, Denise Haslinger, Silvia Lindlar, Holger Thiele, Natalie Bernsen, Felix Zahnert, Philipp S. Reif, Yunus Balcik, Ping Yee Billie Au, Colin B. Josephson, Janine Altmueller, Adam Strzelczyk, Susanne Knake, Felix Rosenow, Andreas Chiocchetti, Karl Martin Klein
Summary: This study investigated the phenotypic and genotypic spectrum of adult patients with epilepsy and intellectual disability. Likely pathogenic/pathogenic variants were identified in 31% of patients, and the diagnostic yield varied between different gene panels. Cluster analysis identified three distinct clusters based on seizure onset and cognitive deficits, highlighting the heterogeneity of this patient cohort. The study suggests that large gene panels or exome sequencing should be used for diagnosis in adult patients with epilepsy and ID.
Article
Biochemistry & Molecular Biology
Petra Buettner, Sarah Werner, Julia Boettner, Susann Ossmann, Edzard Schwedhelm, Holger Thiele
Summary: Supplementation with hArg in an in vivo HFpEF model inhibits renal ARG2 and increases GATM expression, which may contribute to the stabilization of iNOS and ARG2 imbalances in the intestines and skeletal muscle, enhancing barrier function.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medicine, General & Internal
Holger Thiele, Uwe Zeymer, Ibrahim Akin, Michael Behnes, Tienush Rassaf, Amir Abbas Mahabadi, Ralf Lehmann, Ingo Eitel, Tobias Graf, Tim Seidler, Andreas Schuster, Carsten Skurk, Daniel Duerschmied, Peter Clemmensen, Marcus Hennersdorf, Stephan Fichtlscherer, Ingo Voigt, Melchior Seyfarth, Stefan John, Sebastian Ewen, Axel Linke, Eike Tigges, Peter Nordbeck, Leonhard Bruch, Christian Jung, Jutta Franz, Philipp Lauten, Tomaz Goslar, Hans-Josef Feistritzer, Janine Poess, Eva Kirchhof, Taoufik Ouarrak, Steffen Schneider, Steffen Desch, Anne Freund, ECLS-SHOCK Investigators
Summary: In patients with acute myocardial infarction complicated by cardiogenic shock, early extracorporeal life support (ECLS) combined with standard medical treatment did not reduce mortality.
NEW ENGLAND JOURNAL OF MEDICINE
(2023)
Review
Genetics & Heredity
S. B. Gram, J. Bjerrelund, A. M. Jelsig, A. Bygum, C. Leboeuf-Yde, L. B. Ousager
Summary: This systematic review found a lack of well-designed studies on the association between PPPK1 and malignancy. Based on the present literature, no confirmed association was found, questioning the need for surveillance for malignancies in patients with PPPK1.
ORPHANET JOURNAL OF RARE DISEASES
(2023)