Article
Respiratory System
Matthias Griese, Nicolaus Schwerk, Julia Carlens, Martin Wetzke, Nagehan Emiralioglu, Nural Kiper, Joanna Lange, Katarzyna Krenke, Elias Seidl
Summary: For the first time, estimates of minimal important differences (MIDs) for vital signs and health-related quality of life (HrQoL) scores in childhood interstitial lung diseases (chILD) were provided using different methods.
Article
Pediatrics
Halime Nayir-Buyuksahin, Nagehan Emiralioglu, Ayse Ayzit Kilinc, Saniye Girit, Ebru Yalcin, Tugba Sismanlar Eyuboglu, Nazan Cobanoglu, Guzin Cinel, Sevgi Pekcan, Yasemin Gokdemir, Berna Oguz, Diclehan Orhan, Deniz Dogru, Ugur Ozcelik, Azer Kilic Baskan, Huseyin Arslan, Haluk Cokugras, Zeynep Reyhan Onay, Sinem Can Oksay, Deniz Mavi Tortop, Ayse Tana Aslan, Handan Kekec, Fazilcan Zirek, Merve Nur Tekin, Figen Gulen, Bahar Girgin Dindar, Sanem Eryilmaz Polat, Salih Uytun, Asli Imran Yilmaz, Gokcen Unal, Ela Erdem Eralp, Bulent Karadag, Melih Hangul, Mehmet Kose, Beste Ozsezen, Erkan Cakir, Aysen Bingol, Mina Hizal, Gokcen Kartal Ozturk, Zeynep Seda Uyan, Tugba Ramasli Gursoy, Mahir Serbes, Nural Kiper
Summary: This study presented the first results of the chILD registry system in Turkey, which aimed to increase awareness of the disease and improve diagnostic and treatment standards. The study collected data from 416 patients and compared the clinical characteristics between two main chILD groups. The study found differences in demographic characteristics, radiologic findings, and treatment methods between the two groups. The results of the study emphasized the importance of a national registry in understanding the challenges in the diagnosis and management of chILD.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Article
Clinical Neurology
Diane Abdel-Latif Thomasson, Rola Abou Taam, Laureline Berteloot, Sonia Khirani, Lucie Griffon, Alice Hadchouel, Christophe Delacourt, Brigitte Fauroux
Summary: The study aimed to evaluate the prevalence of obstructive sleep apnea (OSA) and sleep quality in children and young adults with children's interstitial and diffuse lung disease (chILD) through polysomnography (PSG). It was found that moderate or severe OSA was rare in children under 18 years old with chILD, while mild to moderate OSA was observed in young adults with pulmonary alveolar proteinosis (PAP) and sarcoidosis.
Article
Pediatrics
Friederike Terpe, Nicolaus Schwerk, Matthias Griese, Peter Laenger Florian, Manfred Ballmann, Cho-Ming Chao, Johannes Ehler
Summary: Childhood Interstitial Lung Disease (chILD) is a rare group of lung disorders with diverse causes. Surfactant dysfunction disorders are one of the causes of chILD in infants. We present a case of a full-term newborn with chILD, diagnosed through chest CT and genetic analysis after excluding common congenital disorders and infections. Despite treatment, the patient's respiratory condition worsened, leading to multiple hospitalizations and the need for noninvasive ventilatory support. Lung transplant was performed successfully at 7 months of age after listing at 6 months.
Article
Medicine, General & Internal
Matthias Griese
Summary: Interstitial lung diseases (ILD) or diffuse parenchymal lung diseases (DPLD) encompass a wide range of disorders. Disease definition and classification are important for clinical decision-making, genetic/environmental risk assessment, and precision medicine treatments. This article provides a brief history of ILD classification systems and focuses on an etiologic classification, highlighting the importance of molecularly defined entities and the potential for precision medicine.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Biochemical Research Methods
Ines M. S. Guerra, Luisa Diogo, Marisa Pinho, Tania Melo, Pedro Domingues, M. Rosario Domingues, Ana S. P. Moreira
Summary: Phenylketonuria (PKU) is a metabolic disorder caused by impaired function of phenylalanine hydroxylase. Treatment involves restricting phenylalanine intake through dietary modifications. Analysis showed significant differences in plasma phospholipid composition between PKU children and healthy children, with higher levels of phosphatidylcholines containing polyunsaturated fatty acids (PUFA) in PKU group.
JOURNAL OF PROTEOME RESEARCH
(2021)
Article
Genetics & Heredity
Fang Chen, Zhiwei Xie, Victor Wei Zhang, Chen Chen, Huifeng Fan, Dongwei Zhang, Wenhui Jiang, Chunli Wang, Peiqiong Wu
Summary: We report two pediatric patients with shortness of breath, dyspnea, and hypoxemia, who were diagnosed with diffuse ILD based on chest CT findings. Whole exome sequencing identified rare compound heterozygous mutations in the ABCA3 gene, resulting in surfactant protein dysfunction and causing ILD in both patients.
FRONTIERS IN GENETICS
(2022)
Article
Respiratory System
Elias Seidl, Nicolaus Schwerk, Julia Carlens, Martin Wetzke, Steve Cunningham, Nagehan Emiralioglu, Nural Kiper, Joanna Lange, Katarzyna Krenke, Nicola Ullmann, Dora Krikovszky, Phillen Maqhuzu, Charlotte A. Griese, Larissa Schwarzkopf, Matthias Griese
Summary: This prospective longitudinal study provides the first analysis of healthcare resource utilization and costs for children's interstitial lung diseases (chILD) across different European countries. The study results indicate that chILD is associated with high utilization of healthcare services, placing a substantial economic burden on health systems.
Article
Medicine, General & Internal
Xianfei Gao, Katarzyna Michel, Matthias Griese
Summary: This study evaluated the range of pulmonary complications in pediatric immunocompromised patients and found that interstitial lung disease (ILD) was the most common. It also found that immunological disorders not yet associated with ILD can also cause ILD. Therefore, specialized pneumological expertise is necessary for managing the full spectrum of respiratory complications in immunocompromised children.
Article
Pharmacology & Pharmacy
Sarah Kupsch, Lars F. Eggers, Dietmar Spengler, Nicolas Gisch, Torsten Goldmann, Heinz Fehrenbach, Guido Stichtenoth, Martin F. Krause, Dominik Schwudke, Andra B. Schromm
Summary: A strong inflammatory immune response is the main cause of lung pathology in nARDS. Anionic phospholipids such as POPG, DOPG, and PIP2 have been found to inhibit the activation of inflammasomes. By enriching surfactant with these phospholipids, the anti-inflammatory properties of surfactant can be enhanced.
EUROPEAN JOURNAL OF PHARMACEUTICAL SCIENCES
(2022)
Article
Multidisciplinary Sciences
Jose Antonio Ros-Lucas, Domingo Andres Pascual-Figal, Jose Antonio Noguera-Velasco, Alvaro Hernandez-Vicente, Iria Cebreiros-Lopez, Maria Arnaldos-Carrillo, Isabel M. Martinez-Ardil, Elisa Garcia-Vazquez, Mario Aparicio-Vicente, Elena Solana-Martinez, Sheyla Yolany Ruiz-Martinez, Laura Fernandez-Mula, Ruben Andujar-Espinosa, Beatriz Fernandez-Suarez, Maria Dolores Sanchez-Caro, Carlos Penalver-Mellado, Francisco Jose Ruiz-Lopez
Summary: CA 15-3 levels are associated with the severity and prognosis of SARS-CoV-2 pneumonia. Elevated CA 15-3 levels are linked to an increased risk of death, intensive care admission, and the need for oxygen therapy.
SCIENTIFIC REPORTS
(2022)
Article
Genetics & Heredity
Suzanna E. L. Temple, Gladys Ho, Bruce Bennetts, Kirsten Boggs, Nada Vidic, David Mowat, John Christodoulou, Andre Schultz, Thet Gayagay, Tony Roscioli, Ying Zhu, Sebastian Lunke, David Armstrong, Joanne Harrison, Nitin Kapur, Tim McDonald, Hiran Selvadurai, Andrew Tai, Zornitza Stark, Adam Jaffe
Summary: This study assessed the diagnostic utility of using trio exome sequencing in children's interstitial and diffuse lung disease (chILD). The results showed that trio exome sequencing had a higher diagnostic rate compared to gene panel approaches, due to its ability to consider a broader range of underlying conditions. However, the etiology of chILD in most cases remained undetermined, likely reflecting the interplay between low penetrant genetic and environmental factors. The study also identified a novel gene candidate (VIP) that may contribute to the clinical phenotype of chILD.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Review
Pediatrics
Jagdev Singh, Adam Jaffe, Andre Schultz, Hiran Selvadurai
Summary: Surfactant plays a crucial role in the respiratory system and is associated with various diseases such as childhood interstitial lung disease. Surfactant protein disorders are rare conditions caused by genetic mutations, with ongoing research and evolving diagnostic and treatment options.
EUROPEAN JOURNAL OF PEDIATRICS
(2021)
Article
Critical Care Medicine
Jonathan A. Rose, Aravind A. Menon, Takuya Hino, Akinori Hata, Mizuki Nishino, David A. Lynch, Ivan O. Rosas, Souheil El-Chemaly, Benjamin A. Raby, Samuel Y. Ash, Bina Choi, George R. Washko, Edwin K. Silverman, Michael H. Cho, Hiroto Hatabu, Rachel K. Putman, Gary M. Hunninghake
Summary: This study aims to define the prevalence and risk factors of suspected ILD and assess its outcomes. The results showed that suspected ILD is associated with worsening symptoms, decreased exercise tolerance, increased supplemental oxygen use, severe respiratory exacerbations, and higher mortality.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
(2023)
Review
Medicine, General & Internal
Marcela Daniela Ionescu, Nicoleta Aurelia Popescu, Diana Stanescu, Augustina Enculescu, Mihaela Balgradean, Georgiana Mihaela Capitanescu, Dragos Bumbacea
Summary: Childhood interstitial lung disease (chILD) is a rare respiratory disorder in children with unclear etiology, often presenting as pneumonia or asthma. Complex diagnostic tests may be required, and delayed diagnosis and treatment can lead to chronic respiratory failure.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Gastroenterology & Hepatology
Yuhan Yin, Anna Sichler, Josef Ecker, Melanie Laschinger, Gerhard Liebisch, Marcus Hoering, Marijana Basic, Andre Bleich, Xue-Jun Zhang, Ludwig Kuebelsbeck, Johannes Plagge, Emely Scherer, Dirk Wohlleber, Jianye Wang, Yang Wang, Marcella Steffani, Pavel Stupakov, Yasmin Gaertner, Fabian Lohoefer, Carolin Mogler, Helmut Friess, Daniel Hartmann, Bernhard Holzmann, Norbert Hueser, Klaus-Peter Janssen
Summary: Hepatocyte growth and proliferation depend on membrane phospholipid biosynthesis, which is significantly influenced by short-chain fatty acids (SCFAs) generated through bacterial fermentation. Antibiotic treatment and dysbiosis not only affect gut microbiota, but also impair hepatic lipid synthesis and liver regeneration.
JOURNAL OF HEPATOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Nikolaos Pagonas, Felix S. Seibert, Gerhard Liebisch, Maximillian Seidel, Theodoros Giannakopoulos, Benjamin Sasko, Oliver Ritter, Nina Babel, Timm H. Westhoff
Summary: This study found an association between low levels of propionate, a short-chain fatty acid, and coronary artery disease (CAD).
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Article
Agriculture, Dairy & Animal Science
Lea Schaefer, Sarah M. Grundmann, Silvia Friedrichs, Dieter Luetjohann, Marcus Hoering, Gerhard Liebisch, Erika Most, Robert Ringseis, Klaus Eder
Summary: Replacing soybean oil with Hermetia illucen larvae fat alters the fatty acid composition of meat and reduces lipid oxidation.
ARCHIVES OF ANIMAL NUTRITION
(2023)
Article
Hematology
Lilli Arndt, Ileana Hernandez-Resendiz, Doreen Moos, Janine Dokas, Silvana Mueller, Franziska Jeromin, Richard Wagner, Uta Ceglarek, Iris M. Heid, Marcus Hoering, Gerhard Liebisch, Sonja C. Stadler, Ralph Burkhardt
Summary: This study demonstrates that deficiency of Trib1 promotes the formation of atherosclerotic lesions and increases plasma cholesterol and triglyceride levels in Ldlr(-/-) mice. It also suggests that Trib1 deficiency alters hepatic lipid metabolism and induces inflammation.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2023)
Article
Genetics & Heredity
Lisa Rein-Fischboeck, Rebekka Pohl, Elisabeth M. Haberl, Wolfgang Mages, Philipp Girke, Gerhard Liebisch, Sabrina Krautbauer, Christa Buechler
Summary: Visceral adiposity is associated with liver steatosis and the development of NASH. Mice lacking SNTB2 have reduced intra-abdominal fat mass and do not accumulate hepatic cholesteryl esters on a MCD diet. However, they still develop a similar NASH pathology as wild type mice, suggesting a minor role of intra-abdominal fat and liver cholesteryl esters in this model.
Article
Biochemistry & Molecular Biology
Georg Peschel, Kilian Weigand, Jonathan Grimm, Martina Mueller, Sabrina Krautbauer, Marcus Hoering, Gerhard Liebisch, Christa Buechler
Summary: This study analyzed the composition of sphingomyelin (SM) in the serum of patients with chronic hepatitis C virus (HCV) infection, and found differences in SM species among different genders, genotypes, and patients with liver cirrhosis. The levels of SM were more closely associated with liver function in male patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Qingqing Wang, Miriam Hoene, Chunxiu Hu, Louise Fritsche, Robert Ahrends, Gerhard Liebisch, Kim Ekroos, Andreas Fritsche, Andreas L. Birkenfeld, Xinyu Liu, Xinjie Zhao, Qi Li, Benzhe Su, Andreas Peter, Guowang Xu, Rainer Lehmann
Summary: Reliability, robustness, and interlaboratory comparability of quantitative measurements in clinical lipidomics studies are crucial. The different ex vivo stability of lipids in blood poses a risk to data interpretation. Clear recommendations for blood sample collection are necessary. In this study, we used UHPLC-high resolution mass spectrometry to investigate the stability of 417 lipid species in EDTA whole blood under different temperature conditions and time points. Our data suggest that cooling whole blood immediately and continuously, and separating plasma within 4 hours, unless focusing on robust lipids, are recommended. Lists of lipids' ex vivo (in)stability and potential biomarkers in whole blood are provided. Overall, our results contribute to the international efforts in achieving reliable and comparable clinical lipidomics studies in the future.
JOURNAL OF LIPID RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Coenraad Frederik Slabber, Marc Bachofner, Tobias Speicher, Andrii Kuklin, Abbie Elisabeth Fearon, Susagna Padrissa-Altes, Roman Bogorad, Carla Horvath Rudigier, Daria Wust, Sabrina Krautbauer, Marcus Hoering, Gerhard Liebisch, Daniel G. Anderson, Christian Wolfrum, Ulrich Auf Dem Keller, Sabine Werner
Summary: Mice lacking FGF receptors 1 and 2 (Fgfr1 and Fgfr2) in hepatocytes are hypersensitive to cytotoxic injury during liver regeneration, which is associated with the protective role of the urinary-reproductive factor Uhrf2 in liver cells. Uhrf2 expression increases during regeneration after partial hepatectomy in an FGFR-dependent manner, but the abundance of Uhrf2 in liver cells is lower in FGFR-deficient mice. Hepatocyte-specific knockout of Uhrf2 leads to liver necrosis, impaired hepatocyte proliferation, and liver failure.
Article
Agriculture, Dairy & Animal Science
Lea Schaefer, Sarah M. Grundmann, Garima Maheshwari, Marcus Hoering, Gerhard Liebisch, Erika Most, Klaus Eder, Robert Ringseis
Summary: This study comprehensively investigated the effect of using insect fat from Hermetia illucens larvae as a fat source in broiler diets. The results showed that replacing soybean oil with insect fat had no effect on the growth performance and metabolic health of broilers, suggesting that insect fat can be a sustainable alternative fat source in broiler diets.
JOURNAL OF ANIMAL SCIENCE AND BIOTECHNOLOGY
(2023)
Article
Endocrinology & Metabolism
Fen Long, Memoona R. Bhatti, Alexandra Kellenberger, Wenfei Sun, Salvatore Modica, Marcus Hoering, Gerhard Liebisch, Jean-Philippe Krieger, Christian Wolfrum, Tenagne D. Challa
Summary: This study reveals that a high-fat diet can cause liver fibrosis and non-alcoholic fatty liver disease, and explores the mechanisms through which these diseases occur under strict diet control.
MOLECULAR METABOLISM
(2023)
Article
Chemistry, Analytical
Dominik Kopczynski, Nils Hoffmann, Nina Troppmair, Cristina Coman, Kim Ekroos, Michael R. Kreutz, Gerhard Liebisch, Dominik Schwudke, Robert Ahrends
Summary: Lipid analysis is important for understanding the various functions of lipids, and LipidSpace is a standalone tool that analyzes lipidomes by assessing their structural and quantitative differences. It offers a user-friendly GUI and support for multiple data formats, allowing for reanalysis and merging of datasets, and provides additional discoveries.
ANALYTICAL CHEMISTRY
(2023)
Article
Pharmacology & Pharmacy
Ranjithkumar Rajendran, Vinothkumar Rajendran, Gregor Boettiger, Christine Stadelmann, Kian Shirvanchi, Laureen von Au, Sudhanshu Bhushan, Natascha Wallendszus, Darja Schunin, Victor Westbrock, Gerhard Liebisch, Sueleyman Erguen, Srikanth Karnati, Martin Berghoff
Summary: This study demonstrates the therapeutic potential of the FGFR inhibitor infigratinib in preventing and suppressing the first clinical episodes of MOG(35-55)-induced experimental autoimmune encephalomyelitis, reducing inflammation and neurodegeneration. Infigratinib also promotes oligodendrocyte maturation and remyelination, and decreases neurodegeneration-associated lipids. Therefore, infigratinib holds promise as a treatment for multiple sclerosis.
BRITISH JOURNAL OF PHARMACOLOGY
(2023)
Article
Nutrition & Dietetics
Sarah M. Grundmann, Kerstin Ress, Lea Zimmermann, Marcus Hoering, Gerhard Liebisch, Erika Most, Robert Ringseis, Klaus Eder
Summary: A high phosphorus intake is associated with metabolic disorders and this study investigated the impact of a high-phosphorus diet on mouse skeletal muscle lipid composition and gene transcription.
Article
Cell Biology
Thomas Timm, Christiane Hild, Gerhard Liebisch, Markus Rickert, Guenter Lochnit, Juergen Steinmeyer
Summary: The levels of lysophosphatidylcholine (LPC) are elevated in the synovial fluid of patients with osteoarthritis (OA). Different LPC species have varying effects on the regulation of proteins and phospholipids in fibroblast-like synoviocytes (FLSs). IL-1 & beta; has the most significant impact on the regulation of proteins by LPC 16:0, suggesting its potential role in modulating inflammatory and catabolic mechanisms.
Article
Biology
Sabrina Ehnert, Anna J. Schreiner, Claudine Seeliger, Josef Ecker, Fabian Springer, Gerhard Liebisch, Philipp Hemmann, Tina Histing, Andreas K. Nussler
Summary: Using fatty acid methyl ester gas chromatography-mass spectrometry, this study found that both saturated and unsaturated fatty acids increase in the bone marrow. Characteristic fatty acid patterns were identified in patients with normal BMD, osteopenia, and osteoporosis, and different patterns were found in plasma, red bone marrow, and yellow bone marrow. Specific fatty acids correlated with osteoclast activity and suggested a possible mechanism for how fatty acids interfere with BMD, but no single fatty acid in the profile could be claimed for controlling BMD.