Article
Medicine, General & Internal
Frederic Schlemmer, Agnes Hamzaoui, Sonia Zebachi, Aurelie Le Thuaut, Gilles Mangiapan, Isabelle Monnet, Amel Boudjema, Laurence Jabot, Bruno Housset, Sylvie Bastuji-Garin, Laurence Bassinet, Bernard Maitre
Summary: This study aimed to develop a clinical score to identify adult patients with bronchiectasis who are at higher risk of having cystic fibrosis or primary ciliary dyskinesia. Through diagnostic work-ups and logistic-regression analyses, specific factors associated with CF/PCD diagnosis were identified and a score was validated in a second cohort. The results showed that age at symptom onset, chronic ENT symptoms, digestive symptoms, and specific microbial isolates from sputum were significantly associated with CF or PCD diagnosis, with the developed score demonstrating good performance in identifying high-risk patients.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Sonia Graziano, Nicola Ullmann, Raffaela Rusciano, Annalisa Allegorico, Francesca Boldrini, Lorenza Rosito, Alexandra L. Quittner, Renato Cutrera, Paola Tabarini
Summary: This study compared the prevalence of depression and anxiety between individuals with primary ciliary dyskinesia (PCD) and cystic fibrosis (CF), as well as their caregivers. The results showed a high percentage of patients and caregivers experiencing depressive and anxiety symptoms, with suicidal ideation reported as well. Therefore, addressing psychological well-being is crucial for the overall management of these chronic respiratory diseases.
RESPIRATORY MEDICINE
(2023)
Article
Pediatrics
Bjarne Vandervoort, Django De Beuckeleer, Elke Huenaerts, Marianne Schulte, Francois Vermeulen, Marijke Proesmans, Thierry Troosters, Myriam Vreys, Mieke Boon
Summary: This study evaluated the short-term effect of a single airway clearance therapy session on lung function in pediatric patients with cystic fibrosis (CF) and primary ciliary dyskinesia (PCD). The results showed no significant effect on forced expiratory volume in 1 s (FEV1) and lung clearance index (LCI) in both CF and PCD patients.
FRONTIERS IN PEDIATRICS
(2022)
Article
Pediatrics
Tugba Ramasli Gursoy, Tugba Sismanlar Eyuboglu, Ayse T. Aslan, Nagehan Emiralioglu, Sevgi Pekcan, Eda Z. Buyukkaya, Melih Hangul, Mehmet Kose, Sebnem Soysal, Isil I. Budakoglu
Summary: This study investigated the psychological status of caregivers of children with cystic fibrosis and primary ciliary dyskinesia. It found that mothers of children with cystic fibrosis experience higher levels of depression, burnout, and burden compared to mothers of children with primary ciliary dyskinesia. Additionally, low family income and frequent hospital visits are associated with higher levels of burnout among caregivers.
PEDIATRIC PULMONOLOGY
(2022)
Review
Cardiac & Cardiovascular Systems
Rute Pereira, Telma Barbosa, Ana Lucia Cardoso, Rosalia Sa, Mario Sousa
Summary: Cystic fibrosis (CF) and Primary ciliary dyskinesia (PCD) are both rare chronic diseases, but PCD has a lower prevalence and is less studied compared to CF. This review aims to provide an overview of the similarities and differences between CF and PCD in terms of disease mechanisms, clinical manifestations, genetics, and treatment options. The review emphasizes the need for ongoing research to improve treatment and fill the gaps in medical and scientific knowledge, especially for PCD.
RESPIRATORY MEDICINE
(2023)
Review
Pediatrics
Maria Papale, Sara Manti, Santiago Presti, Federico Mollica, Giuseppe F. Parisi, Salvatore Leonardi
Summary: Cystic fibrosis (CF) and primary ciliary dyskinesia (PCD) are genetic respiratory diseases that cause chronic inflammation and infection. Sleep is important for children's development, but sleep quality and respiratory disorders are common in these patients. Respiratory disorders can lead to attention deficits, daytime sleepiness, fatigue, and mood disorders, affecting quality of life. However, the impact of respiratory disorders on health and quality of life needs further investigation.
Review
Biochemistry & Molecular Biology
Tamara Paff, Heymut Omran, Kim G. Nielsen, Eric G. Haarman
Summary: Primary ciliary dyskinesia (PCD) is a rare genetic ciliopathy that disrupts mucociliary clearance due to abnormal cilia motion or reduced generation of motile cilia, leading to lung damage from recurrent airway infections. Current treatment focuses on improving mucociliary clearance and early management of bacterial airway infections, with guidelines primarily based on cystic fibrosis (CF) guidelines. Limited research has been conducted on PCD, including three trials and several case reports, with exploration of precision medicine approaches such as gene therapy and mRNA transcript therapy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Pediatrics
Merve Firat, Meral Bosnak-Guclu, Tugba Sismanlar-Eyuboglu, Ayse Tana Aslan
Summary: This study compared exercise capacity, cough strength, thoracoabdominal mobility, posture, and depression in children with primary ciliary dyskinesia (PCD) and healthy peers. The results showed that PCD patients had impaired aerobic exercise capacity, cough strength, and thoracoabdominal mobility, deteriorated posture, and elevated perception of depression. Additionally, cough strength was correlated with maximal expiratory strength and total number of steps in these patients.
PEDIATRIC PULMONOLOGY
(2023)
Review
Medicine, General & Internal
Mayako Mori, Takashi Kido, Noriho Sakamoto, Mutsumi Ozasa, Kumiko Kido, Yasuko Noguchi, Takatomo Tokito, Daisuke Okuno, Hirokazu Yura, Atsuko Hara, Hiroshi Ishimoto, Takashi Suematsu, Yasushi Obase, Yoshimasa Tanaka, Koichi Izumikawa, Kazuhiko Takeuchi, Hiroshi Mukae
Summary: A case study was conducted on a 39-year-old Japanese woman diagnosed with primary ciliary dyskinesia (PCD). The study found that the patient had moderate deterioration of cilia function and a reduced number of respiratory cells with moving cilia. Whole-exome analysis identified novel biallelic variants of the SPEF2 gene in the patient. Fluorescent immunostaining confirmed the absence of SPEF2 protein expression in the cilia of the nasal mucosa.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Medicine, General & Internal
Lisa Eggenkemper, Anne Schlegtendal, Christoph Maier, Thomas Luecke, Folke Brinkmann, Bibiana Beckmann, Dimitrios Tsikas, Cordula Koerner-Rettberg
Summary: Low nasal nitric oxide (nNO) is a typical feature of Primary Ciliary Dyskinesia (PCD), but the underlying pathomechanisms are unclear. This study found that PCD patients have impaired nitric oxide synthesis in the lungs, possibly due to mechano-chemical uncoupling, in contrast to cystic fibrosis (CF).
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Pediatrics
Lieke Noij, Eric Haarman, Simone Hashimoto, Suzanne Terheggen-Lagro, Josje Altenburg, Jos Twisk, Marieke Verkleij
Summary: In the context of the COVID-19 pandemic, individuals with cystic fibrosis (PwCF) or primary ciliary dyskinesia (PwPCD) and their caregivers experienced negative impacts on their mental health, with high levels of depression and anxiety symptoms. This emphasizes the importance of mental health screening and psychological care for these populations.
PEDIATRIC PULMONOLOGY
(2023)
Article
Oncology
Xinyue Zhao, Haijun Ge, Wenshuai Xu, Chongsheng Cheng, Wangji Zhou, Yan Xu, Junping Fan, Yaping Liu, Xinlun Tian, Kai-Feng Xu, Xue Zhang
Summary: This study identified novel CFAP54 pathogenic variants in PCD patients and validated their pathogenicity through mouse models. The study is of great significance for expanding the gene spectrum associated with PCD and improving future genetic testing.
FRONTIERS OF MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Maaike Cockx, Marfa Blanter, Mieke Gouwy, Pieter Ruytinx, Sara Abouelasrar Salama, Sofie Knoops, Noemie Poertner, Lotte Vanbrabant, Natalie Lorent, Mieke Boon, Sofie Struyf
Summary: Investigations on patients with primary ciliary dyskinesia (PCD) revealed that neutrophils in their peripheral blood produce fewer reactive oxygen species upon stimulation with bacterial products or cytokines, and show reduced capacity in releasing DNA during neutrophil extracellular trap formation. These findings suggest that the reduced neutrophil activity in PCD patients may contribute to recurrent respiratory infections.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Pediatrics
Tugba Sismanlar Eyuboglu, Ayse Tana Aslan, Tugba Ramasl Gursoy, Pelin Asfuroglu, Azime Sebnem Soysal, Dilek Yapar, Mustafa Necmi Ilhan
Summary: The study found that changes in sleep patterns were more common among typically developing children and their families during the COVID-19 pandemic. Children with primary ciliary dyskinesia (PCD) had higher sleep breathing disorder scores, while children with cystic fibrosis (CF) and PCD had higher sleep hyperhidrosis scores. No relationships were found between sleep parameters and clinical findings of children with lung disease.
JOURNAL OF PAEDIATRICS AND CHILD HEALTH
(2021)
Article
Medicine, General & Internal
Ana Reula, Javier Pitarch-Fabregat, Javier Milara, Julio Cortijo, Manuel Mata-Roig, Lara Milian, Miguel Armengot
Summary: This study used high-speed video microscopy to observe changes in CBF and CBP over time and at different temperatures, finding that within 3 hours of sampling, CBF increased while CBP became dyskinetic at both room temperature and 4 degrees Celsius. This highlights the importance of conducting accurate analysis for the diagnosis of PCD within the first 3 hours after sample collection.
Article
Radiology, Nuclear Medicine & Medical Imaging
Laura Kerschke, Stefanie Weigel, Alejandro Rodriguez-Ruiz, Nico Karssemeijer, Walter Heindel
Summary: The study evaluated the potential of artificial intelligence in discriminating between benign and malignant mammographic abnormalities, showing AI's ability to reduce false-positive rates and improve accuracy in recalling lesions. AI demonstrated the ability to decrease false-positives and non-FPR at the expense of a slight sensitivity reduction compared to human reading, especially in cases of mass-related lesions. Further prospective studies are needed to assess the practical benefits of AI in breast cancer screening.
EUROPEAN RADIOLOGY
(2022)
Review
Cell Biology
Bryony Braschi, Heymut Omran, George B. Witman, Gregory J. Pazour, K. Kevin Pfister, Elspeth A. Bruford, Stephen M. King
Summary: This review provides an updated consensus nomenclature for components of dynein motors and their assembly factors. Standardizing gene nomenclature facilitates cross-species discussion and genetic comparison. The review also details additional nomenclature updates for vertebrate-specific genes.
JOURNAL OF CELL BIOLOGY
(2022)
Article
Medicine, General & Internal
Raphael Weiss, Khaschayar Saadat-Gilani, Laura Kerschke, Carola Wempe, Melanie Meersch, Alexander Zarbock
Summary: The EPIS-AKI trial aims to evaluate the epidemiology of AKI after major surgery in 10,000 patients, with the primary endpoint being the incidence of AKI within 72 hours post-surgery. Preoperative and intraoperative risk factors will be assessed, along with urinary biomarkers for early detection of AKI.
Article
Critical Care Medicine
Jobst F. Roehmel, Friederike J. Doerfler, Cordula Koerner-Rettberg, Folke Brinkmann, Anne Schlegtendal, Martin Wetzke, Isa Rudolf, Simone Helms, Joerg Grosse-Onnebrink, Yin Yu, Thomas Nuesslein, Irena Wojsyk-Banaszak, Sebastian Becker, Olaf Eickmeier, Olaf Sommerburg, Heymut Omran, Mirjam Stahl, Marcus A. Mall
Summary: This study found that there is early onset of lung disease in preschool children with primary ciliary dyskinesia (PCD), and the severity of lung disease in PCD may be similar to that in cystic fibrosis (CF) during preschool years. These results support the importance of early diagnostic monitoring and therapy, and suggest that the lung clearance index (LCI) can serve as a noninvasive diagnostic tool and potential endpoint in clinical trials.
Article
Obstetrics & Gynecology
Jana Franzis Franke, Kathrin Oelmeier, Mareike Moellers, Ute Moellmann, Janina Braun, Laura Kerschke, Helen Ann Koester, Walter Klockenbusch, Ralf Schmitz, Kerstin Hammer
Summary: The study compares the effects of two prostaglandin analogs and two application intervals on the time to abortion in second trimester termination of pregnancy. The results suggest that both application intervals and prostaglandin analogs are similarly effective.
JOURNAL OF PERINATAL MEDICINE
(2022)
Article
Oncology
Walter Heindel, Stefanie Weigel, Joachim Gerss, Hans-Werner Hense, Alexander Sommer, Miriam Krischke, Laura Kerschke
Summary: Digital breast tomosynthesis plus s2D mammography showed a significantly higher detection rate for invasive breast cancer compared to digital mammography alone.
Article
Radiology, Nuclear Medicine & Medical Imaging
Benjamin Noto, Wolfgang Roll, Laura Zinken, Robert Rischen, Laura Kerschke, Georg Evers, Walter Heindel, Michael Schaefers, Florian Buether
Summary: This study found that PET motion correction can improve the lymph node assessment scores of expert readers, but does not significantly improve subjective reader certainty. It also showed significant effects on quantitative PET parameters.
Article
Radiology, Nuclear Medicine & Medical Imaging
Stefanie Weigel, Anne-Kathrin Brehl, Walter Heindel, Laura Kerschke
Summary: This study evaluated the performance of an artificial intelligence system in the diagnosis of breast calcifications. The results showed that the system had increasing positive predictive values with higher categories, and exhibited high accuracy in breast cancer detection.
ROFO-FORTSCHRITTE AUF DEM GEBIET DER RONTGENSTRAHLEN UND DER BILDGEBENDEN VERFAHREN
(2023)
Meeting Abstract
Radiology, Nuclear Medicine & Medical Imaging
W. Roll, B. Noto, R. Rischen, L. Kerschke, G. Evers, W. Heindel, M. Schafers, F. Buther
EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING
(2022)
Letter
Biochemistry & Molecular Biology
Luisa Biebach, Sandra Cindric, Julia Koenig, Isabella Aprea, Gerard W. Dougherty, Johanna Raidt, Diana Bracht, Renate Ruppel, Jens Schreiber, Rim Hjeij, Heike Olbrich, Heymut Omran
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY
(2022)
Article
Respiratory System
Johanna Raidt, Henrike Krenz, Johannes Tebbe, Joerg Grosse-Onnebrink, Heike Olbrich, Niki Tomas Loges, Luisa Biebach, Christian Schmalstieg, Christina Kessler, Julia Wallmeier, Bernd Dworniczak, Petra Pennekamp, Martin Dugas, Claudius Werner, Heymut Omran
Summary: In diagnosing PCD, measuring nNO below 77 nl/min may be less sensitive for individuals with normal ciliary structure. Adjusting the nNO cutoff to 107.8 nl/min in this subgroup can improve diagnostic accuracy and is dependent on underlying molecular PCD defects. Higher nNO production rates, residual CBFs, and lower prevalence of laterality defects hinder the diagnosis of PCD with normal ciliary structure.
ANNALS OF THE AMERICAN THORACIC SOCIETY
(2022)
Meeting Abstract
Medicine, General & Internal
Patricia Nicole Wiegele, Iyad Kabar, Laura Kerschke, Christopher Froemmel, Anna Huesing-Kabar, Hartmut Schmidt, Elena Vorona, Richard Vollenberg, Phil-Robin Tepasse
Article
Immunology
Patricia Nicole Wiegele, Iyad Kabar, Laura Kerschke, Christopher Froemmel, Anna Huesing-Kabar, Hartmut Schmidt, Elena Vorona, Richard Vollenberg, Phil-Robin Tepasse
Summary: Limited information is available on the clinical course of outpatients with mild COVID-19. Fatigue, cough, and headache were the most common symptoms and occurred early in the course of illness, while neurologic symptoms and dyspnea occurred later. Symptomatic patients should be tested more frequently for SARS-CoV-2 during influenza season to prevent further spread of COVID-19.
EMERGING INFECTIOUS DISEASES
(2021)
Article
Clinical Neurology
Steffen Pfeuffer, Laura Kerschke, Tobias Ruck, Leoni Rolfes, Marc Pawlitzki, Philipp Albrecht, Heinz Wiendl, Sven G. Meuth
Summary: This study demonstrated that TRF treatment is associated with favorable outcomes in terms of functional optic nerve recovery following optic neuritis (ON) in early multiple sclerosis. Compared to IFN or GLAT, TRF-treated patients showed higher LCLA and shorter P100 latency, indicating better visual function recovery.
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
(2021)
