Results 41 to 50 of about 4,530,510 (207)

Primary ciliary dyskinesia in children [PDF]

Jornal de Pediatria, 2000
OBJECTIVES: To point out primary ciliary dyskinesia as a cause of chronic respiratory disease in children.METHODS: A 10 year literature review on Medline and by direct research about the subject.RESULTS AND CONCLUSIONS: Primary ciliary dyskinesia is a disorder characterized by an abnormal mucociliary clearance.
M F, Toledo, F V, Adde
openaire   +2 more sources

Primary Ciliary Dyskinesia-Causing Mutations in Amish and Mennonite Communities [PDF]

, 2013
To determine whether individuals with primary ciliary dyskinesia (PCD) from unrelated Amish and Mennonite families harbor a single and unique founder ...
Puffenberger, Erik G., Bowcock, Anne, Strauss, Kevin A., Carson, John L., Lie, Hauw, Patel, Anand C., Helms, Cynthia, Morton, D. Holmes, Leigh, Margaret W., Zariwala, Maimoona A., Hazucha, Milan, Ferkol, Thomas W., Knowles, Michael R.   +12 more
core   +1 more source

Primary ciliary dyskinesia: a national expert consensus statement on standards of care

ERJ Open Research
Primary ciliary dyskinesia (PCD) is a genetically and clinically diverse disorder characterised by loss of normal ciliary function leading to chronic oto-sino pulmonary disease, situs abnormalities and subfertility in men and women.
Evie A. Robson, Giulia Spoletini, Amelia Bercusson, Siobhan B. Carr, Mary Carroll, Katie Dexter, Lucy Dixon, Claire Hogg, Andrew Jones, Priti Kenia, Michael Loebinger, Jane S. Lucas, Eduardo Moya, Christopher O'Callaghan, Deepa Patel, Daniel G. Peckham, Simon Range, Woolf T. Walker   +17 more
doaj   +1 more source

A General High‐Throughput Mucus Microrheology Platform for Quantitative and Scalable Mucus Phenotyping

Advanced Science, EarlyView.
High‐throughput Differential Dynamic Microscopy measures frequency‐resolved mechanical fingerprints from 3 to 10 μL$\umu{\rm L}$ mucus samples using only a few minutes of operator attention per sample. This automated analysis enables scalable mucus phenotyping for translational research by distinguishing mechanical heterogeneity among donors, disease ...
Feng Ling, Ayşe Tuğçe Şahin, Bernardo Miller Naranjo, Stefano Aime, Doris Roth, Anna Pukaluk, Niels Tepho, Romina Augustin, Benedetta Zampa, Andrea S. Vendrame, Mark‐Christian Klassen, Ellen Emken, Marion Kiechle, Mircea Gabriel Stoleriu, Pontus Mertsch, Ruth Olmer, Yohannes Tesfaigzi, Oliver Lieleg, Janna C. Nawroth   +18 more
wiley   +1 more source

Ciliary defects and genetics of primary ciliary dyskinesia [PDF]

Paediatric Respiratory Reviews, 2009
Cilia are evolutionarily conserved structures that play key roles in diverse cell types. Motile cilia are involved in the most prominent ciliopathy called primary ciliary dyskinesia (PCD) that combines respiratory symptoms, male infertility, and, in nearly 50% cases, situs inversus.
Escudier, Estelle, Duquesnoy, Philippe, Papon, Jean-François, Amselem, Serge   +3 more
openaire   +3 more sources

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +1 more source

The Emerging Genetics of Primary Ciliary Dyskinesia [PDF]

Proceedings of the American Thoracic Society, 2011
Abstract Primary ciliary dyskinesia (PCD) is an autosomal recessive, rare, genetically heterogeneous condition characterized by oto-sino-pulmonary disease together with situs abnormalities (Kartagener syndrome) owing to abnormal ciliary structure and function.
Maimoona A, Zariwala, Heymut, Omran, Thomas W, Ferkol   +2 more
openaire   +2 more sources

Primary ciliary dyskinesia: a biopsychosocial approach [PDF]

, 2016
Background: Primary ciliary dyskinesia (PCD) is a rare heterogeneous genetic disorder associated with abnormal ciliary structure and function and characterised by progressive sinopulmonary disease. There is no ‘gold standard’ for diagnosing PCD.
Behan, Laura
core   +1 more source

Microbial‐Metabolite Signatures Are Associated With Glucocorticoid Responsiveness in Chronic Rhinosinusitis With Nasal Polyps

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Patients with chronic rhinosinusitis with nasal polyps (CRSwNP) exhibit heterogeneous responses to oral glucocorticoids (GCs), but the biological basis of this variability remains unclear. Objective To identify gut microbiome‒plasma metabolomic signatures associated with GC responsiveness in CRSwNP patients and to compare their ...
Ying‐Ying Zhang, Xin‐Yu Ding, Mei‐Ping Lu, Yan‐Bing Chen, Ye Yuan, Lin Jiang, Min Zhang, Lei Cheng   +7 more
wiley   +1 more source

The Mixed Neutrophilic–Eosinophilic Endotype of CRSwNP Blunts Postsurgical Improvement as Determined by the Completeness of Surgery Index

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The Completeness of Surgery Index (CoSI) is a novel metric for assessing surgical quality in chronic rhinosinusitis with nasal polyps (CRSwNP). Structured histopathology (SHP) is helpful for characterizing drivers of inflammation. Integrating these two tools to identify patients at higher risk for surgically recalcitrant disease has
Vidit M. Talati, Kerol Faltas, Michael R. Xiang, Randy Bach, Spencer L. Yueh, Margaret B. Mitchell, Alan D. Workman, Michael A. Kohanski, Nithin D. Adappa, Jennifer E. Douglas, Noam A. Cohen, John V. Bosso, James N. Palmer   +12 more
wiley   +1 more source