Ciliary Dyskinesia

[Maryther-Oropeza-MD]

This article has been medically reviewed by Marither Oropeza, MD — 2022-12-22

Who are the top experts researching treatments for ciliary dyskinesia?

The top experts researching ciliary dyskinesia are: Mieke Boon, Kathy Rickard and Claire L. Hogg.

What are the top concepts researched in studies about ciliary dyskinesia?

The most researched concepts in studies of ciliary dyskinesia are: Motile Cilia, Cystic Fibrosis, Lung Function, Dynein Arms, Electron Micoscopy, Nitric Oxide, Epithelial Cells and Laterality Defects.

What are some of the top places that specialize in ciliary dyskinesia?

Recommended institutions that specialize in ciliary dyskinesia:

Krueger James J MD 701 E 28th St #400, Long Beach, CA 90806 Phone: +15624246040

Dr. Jalil Anwar, MD 161 E Main St, Huntington, NY 11743 Phone: +16317608207

60 Grove End Rd, London NW8 9NH, United Kingdom 60 Grove End Rd, London NW8 9NH, United Kingdom Phone: +442037445388

Matsuzawa Respiratory Clinic Japan, 〒542-0086 Osaka, Chuo Ward, Nishishinsaibashi, 1 Chome−12−11 アーバンスタイル心斎橋2階 Phone: +81661203177

Ciliary Dyskinesia

[Maryther-Oropeza-MD]

This article has been medically reviewed by Marither Oropeza, MD — 2022-12-22

#1	Michael R Knowles
Marsico Lung Institute/UNC CF Research Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA | School of Medicine, University of ... Cystic Fibrosis | Primary Ciliary Dyskinesia | Lung Disease | Gene Transfer | Dnah5 Mutations

#2	Maimoona A Zariwala
Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA | UNC School of Medicine, Pathology/Lab ... Primary Ciliary Dyskinesia | Dnah5 Mutations | Motile Cilia | Kinase Inhibitor | Pcd Patients

#3	Heymut Omran
Department of General Pediatrics, University of Münster, Münster, Germany. | Department of General Pediatrics, University Hospital Münster, University of Münster, Münster ... Primary Ciliary Dyskinesia | Adolescent Nephronophthisis | Lung Function | Dnah5 Mutations | Respiratory Cilia

#4	Andrew P Bush
National Heart and Lung Institute, Imperial College London. | Dept of Paediatric Respiratory Medicine, Imperial Centre for Paediatrics and Child Health, National Heart and ... Cystic Fibrosis | Lung Function | Severe Asthma | Primary Ciliary Dyskinesia | Airway Inflammation

#5	Margaret W Leigh
Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA | Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center, University ... Primary Ciliary Dyskinesia | Cystic Fibrosis | Lung Function | Gene Transfer | Motile Cilia

#6	Johnny L Carson
Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA | Department of Pediatrics, University of North Carolina , Chapel Hill, North ... Primary Ciliary Dyskinesia | Epithelial Cells | Tobacco Smoke | Air Pollutants | Electron Microscopy

#7	Jorissen Jorissen
Otorhinolaryngology, Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium | Department of Neurosciences, Experimental Otorhinolaryngology, Rhinology Research, ... Primary Ciliary Dyskinesia | Epithelial Cells | Mucociliary Transport | Human Nasal Epithelium | Dynein Arms

#8	Jane S A Lucas
NIHR Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, United Kingdom | Primary Ciliary Dyskinesia Centre, ... Primary Ciliary Dyskinesia | Lung Function | 6 Years | Social Media | Cystic Fibrosis

#9	Hannah M Mitchison
Clinical Genetics and Genomics, Royal Brompton Hospital, Guy's and St. Thomas' NHS Foundation Trust and NHLI, Imperial College London, UK. | Authors contributed equally to ... Primary Ciliary Dyskinesia | Batten Disease | Neuronal Ceroid | Thoracic Dystrophy | Human Pair

#10	Claire L Hogg
Royal Brompton Hospital, Guy’s and St Thomas’ NHS Foundation Trust, SW3 6NP, London, UK | Royal Brompton and Harefield Foundation Trust, Primary Ciliary Dyskinesia Centre, ... Primary Ciliary Dyskinesia | Electron Tomography | Azithromycin Maintenance Therapy | Motile Cilia | Lung Function

#11	Estelle F Escudier
APHP.Sorbonne Université. Hôpital Armand Trousseau, Paris, France. | AP‐HP Département de Génétique médicale, Sorbonne Université, Inserm UMR_S933 Maladies génétiques ... Primary Ciliary Dyskinesia | Nasal Polyps | Epithelial Cells | Bronchoalveolar Lavage | Aids Patients

#12	Christopher Liam O’Callaghan
Respiratory, Critical Care and Anaesthesia, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Children’s Hospital & NIHR Great Ormond Street Hospital ... Primary Ciliary Dyskinesia | Ependymal Cilia | Upper Airway | Spacer Device | Beclomethasone Dipropionate

#13	Kim Gjerum Nielsen
Danish PCD Centre Copenhagen, Paediatric Pulmonary Service, Copenhagen University Hospital, Copenhagen, Denmark. | Danish Paediatric Pulmonary Service, CF Centre Copenhagen, ... Primary Ciliary Dyskinesia | Cystic Fibrosis | Lung Function | Sinus Surgery | Diffusing Capacity

#14	Sharon D M Dell
Division of Respiratory Medicine, Department of Pediatrics, University of British Columbia, Vancouver, Canada | BC Children's Hospital, 37210, Pediatrics, Vancouver, British ... Primary Ciliary Dyskinesia | Severe Asthma | Cystic Fibrosis | Air Pollution | Infant Feeding

#15	Peadar G Noone
Division of Mycobacterial and Respiratory Infections, National Jewish Health, Denver, CO | UNC Chapel Hill, Chapel Hill, AL, United States | M. Gentzsch and P.G. Noone ... Cystic Fibrosis | Primary Ciliary Dyskinesia | Dnah5 Mutations | Gene Transfer | Patients Bronchiectasis

#16	Thomas W Ferkol
Department of Pediatrics, Washington University, St. Louis Children's Hospital, St. Louis, MO, USA. | Washington University in Saint Louis School of Medicine, 12275, ... Cystic Fibrosis | Primary Ciliary Dyskinesia | Gene Transfer | Epithelial Cells | Lung Function

#17	Heike Olbrich
King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia | Universitätsklinikum Münster, Münster, Germany | Universitätsklinikum Essen, Essen, Germany | ... Primary Ciliary Dyskinesia | Respiratory Cilia | Dnah5 Mutations | Transition Zone | Patients Pcd

#18	Milan J Hazucha
University of North Carolina at Chapel Hill, Chapel Hill, NC, USA | University of North Carolina at Chapel Hill. | University of North Carolina at Chapel Hill, Chapel Hill, ... Pulmonary Function | Ozone Exposure | Primary Ciliary Dyskinesia | Tobacco Smoke | Older Subjects

#19	Stephanie D Davis
Riley Children's Hospital, Pediatrics, Indianapolis, Indiana, United States. | Department of Pediatrics, UNC Children's, The University of North Carolina at Chapel Hill School ... Cystic Fibrosis | Primary Ciliary Dyskinesia | Lung Function | Young Children | Inhaled Hypertonic Saline

#20	Lucia Bartoloni
UOSD Laboratorio Analisi Venezia, ULSS12 Veneziana, 30121 Venezia, Italy | Department of Genetic Medicine and Development, University of Geneva School of Medicine, CH-1211 ... Primary Ciliary Dyskinesia | Dnah5 Mutations | Negative Symptoms | Myophosphorylase Deficiency | Intracytoplasmic Sperm Injection

[Maryther-Oropeza-MD]

This article has been medically reviewed by Marither Oropeza, MD — 2022-12-22

Ciliated Air-Liquid Cultures As An Aid To Diagnostic Testing Of Primary Ciliary Dyskinesia

.. primary ciliary dyskinesia (PCD) can prove difficult because of secondary damage of ciliated tissue.

METHODS: Here we audit culturing cells, obtained by nasal brushing, to a ciliated ...

Ciliary Dyskinesia | Diagnostic Testing | Cell Culture | Pcd Patients | Brush Biopsy

Ciliary Dyskinesia Associated With Hydrocephalus And Mental Retardation In A...

.. of ciliary dyskinesia syndrome associated with hydrocephalus and mental retardation in 3 generations of a family.

PATIENTS AND METHODS: A large Jordanian family included 9 individuals in 3 ...

Ciliary Dyskinesia | Autosomal Recessive | Microscopy Electron | Publication Abnormalities | Humans Hydrocephalus

Clinical And Genetic Aspects Of Primary Ciliary Dyskinesia/kartagener Syndrome

.. Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. Most of the disease-causing mutations identified to date involve the heavy (dynein axonemal heavy chain ...

Ciliary Dyskinesia | Kartagener Syndrome | Motile Cilia | Chronic Bronchitis | Male Infertility

The Prevalence Of Clinical Features Associated With Primary Ciliary Dyskinesia In...

.. Primary ciliary dyskinesia and heterotaxy are rare but not mutually exclusive disorders, which result from cilia dysfunction. Heterotaxy occurs in at least 12.1% of primary ciliary ...

Primary Ciliary Dyskinesia | Heterotaxy Syndrome | Patients Prevalence | Respiratory Symptoms | Preschool Female

Primary Ciliary Dyskinesia And Newborn Respiratory Distress

.. Primary ciliary dyskinesia is an autosomal recessive genetic disease that results in impaired mucociliary clearance causing progressive involvement of the upper and lower respiratory ...

Ciliary Dyskinesia | Respiratory Distress | Situs Inversus | Male Infertility | Clinical Manifestations

Ccdc103 Mutations Cause Primary Ciliary Dyskinesia By Disrupting Assembly Of...

.. primary ciliary dyskinesia (PCD, MIM244400), a disorder affecting 1:15,000-30,000 births. Cilia motility requires the assembly of multisubunit dynein arms that drive ciliary bending. ...

Ciliary Dyskinesia | Dynein Arms | Ccdc103 Mutations | Kartagener Syndrome | Cilia Motility

Central Microtubular Agenesis Causing Primary Ciliary Dyskinesia

.. Primary ciliary dyskinesia is an autosomal recessive disorder characterized by chronic upper and lower respiratory tract symptoms. We report the diagnosis of primary ciliary dyskinesia ...

Ciliary Dyskinesia | Beat Pattern | Central Microtubular Agenesis | Transposition Defect | Ultrastructural Analysis

Heterotaxy And Complex Structural Heart Defects In A Mutant Mouse Model Of...

.. Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder associated with ciliary defects and situs inversus totalis, the complete mirror image reversal of internal organ ...

Ciliary Dyskinesia | Mouse Model | Heart Defects | Congenital Humans | Inversus Totalis

The Secondary Nature Of Ciliary (Dis)orientation In Secondary And Primary Ciliary...

.. [secondary ciliary dyskinesia (SCD)] and in a very few cases as the single abnormality in primary ciliary dyskinesia (PCD). The etiology, pathogenesis, consequences and relevance of ...

Ciliary Dyskinesia | Kartagener Syndrome | Ultrastructural Abnormalities | Pcd Patients | Respiratory Mucosa

Expression Of Nitric Oxide Synthases In Primary Ciliary Dyskinesia

.. primary ciliary dyskinesia have very low concentration of nasal nitric oxide, which may contribute to the chronic upper airway diseases encountered by these patients. The mechanisms ...

Primary Ciliary Dyskinesia | Nitric Oxide | Nasal Polyps | Kartagener Syndrome | Ciliated Epithelial Cells

Mutations In Radial Spoke Head Protein Genes Rsph9 And Rsph4a Cause Primary...

.. Primary ciliary dyskinesia (PCD) is a genetically heterogeneous inherited disorder arising from dysmotility of motile cilia and sperm. This is associated with a variety of ultrastructural ...

Ciliary Dyskinesia | Radial Spoke | Gene Expression | Head Protein | Central Pair

A 20-Year Experience Of Electron Microscopy In The Diagnosis Of Primary Ciliary Dyskinesia

.. primary ciliary dyskinesia (PCD). We report our extensive experience of TEM analysis in a large series of patients in order to evaluate its feasibility and results. TEM analysis performed ...

Ciliary Dyskinesia | Electron Microscopy | Pcd Patients | Dynein Arms | Sinopulmonary Symptoms

Diagnostic Testing Of Patients Suspected Of Primary Ciliary Dyskinesia

.. primary ciliary dyskinesia (PCD). Ciliary beat frequency (CBF) has been used to screen samples to determine whether EM is indicated. Beat pattern analysis has been advocated as an ...

Ciliary Dyskinesia | Electron Microscopy | Diagnostic Testing | Pattern Analysis | Sensitivity Specificity

Secondary Defects Detected By Transmission Electron Microscopy In Primary Ciliary...

.. Primary ciliary dyskinesia (PCD) is predominantly an autosomal recessively inherited condition that affects ~1 in 15,000 people. Diagnosis of PCD can be complex and is ordinarily based on ...

Ciliary Dyskinesia | Electron Microscopy | Diagnosis Pcd | Biallelic Variants | Humans Kartagener

Nasal Nitric Oxide Is Low Early In Life: Case Study Of Two Infants With Primary...

.. primary ciliary dyskinesia, but it is not known whether this defect is already present in the first months of life. The current authors measured nasal nitric oxide in two infants with ...

Primary Ciliary Dyskinesia | Nasal Nitric Oxide | Young Children | Situs Inversus | Cavity Nitric

A Longitudinal Study Of Lung Bacterial Pathogens In Patients With Primary Ciliary...

.. primary ciliary dyskinesia (PCD), impaired mucociliary clearance leads to an accumulation of secretions in the airways and susceptibility to repeated bacterial infections. The primary aim ...

Ciliary Dyskinesia | Patients Pcd | Pseudomonas Aeruginosa | Chronic Infection | Bacterial Pathogens

The Patient’s Experience Of Primary Ciliary Dyskinesia: A Systematic Review

.. BackgroundPrimary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by progressive sinopulmonary disease, with symptoms starting soon after birth. The aim of this study is ...

Ciliary Dyskinesia | Patients Pcd | Quality Life | Kartagener Syndrome | Surveys Questionnaires

Mucociliary Transport Using 99mtc-Albumin Colloid: A Reliable Screening Test For...

.. primary ciliary dyskinesia (PCD) and to compare it with the gold standard nasal biopsy for study of ciliary motility and ultrastructure.

METHODS: During a 4 year period both tests were ...

Ciliary Dyskinesia | Screening Test | Sensitivity Specificity | Nasal Biopsy | 29 Patients

Lung Clearance Index And High-Resolution Computed Tomography Scores In Primary...

.. primary ciliary dyskinesia (PCD).

OBJECTIVES: To test the relationships between LCI, spirometry, and HRCT in PCD and to compare them to the established relationships in CF.

METHODS: ...

Ciliary Dyskinesia | Lci Pcd | Lung Clearance | Computed Tomography | Cystic Fibrosis

Health-Related Quality Of Life And Unmet Needs In Patients With Primary Ciliary Dyskinesia

.. primary ciliary dyskinesia (PCD). We sought to determine the health impact of the disease as well as the unmet needs in a large group of patients. Questionnaires were either posted or ...

Ciliary Dyskinesia | Patients Pcd | Quality Life | Health Impact | Kartagener Syndrome