Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis

Goutaki, Myrofora; Meier, Anna Bettina; Halbeisen, Florian S.; Lucas, Jane S.; Dell, Sharon D.; Maurer, Elisabeth; Casaulta, Carmen; Jurca, Maja; Spycher, Ben D.; Kuehni, Claudia E.

doi:10.1183/13993003.00736-2016

Cited by 188 publications

(205 citation statements)

References 74 publications

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“…University Hospital Southampton NHS Foundation Trust Pictures shown with consent has an incidence of 1:2,500, approximately four times more common (Lucas et al 2014, Goutaki et al 2016. (Lucas et al 2017).…”

Section: Pcd Carrier Fathermentioning

confidence: 99%

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Diagnosis and management of children with primary ciliary dyskinesia

Harris¹

2017

Nursing Children and Young People

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Section: Pcd Carrier Fathermentioning

confidence: 99%

“…In PCD, cilia are either static, ineffective or absent, leading to a build-up of mucus in the chest, ears, nose and sinuses. Symptoms occur from the neonatal period onwards and include (Goutaki et al 2016): » Daily chronic wet cough. » Recurrent chest infections leading to bronchiectasis (irreversible lung damage).…”

Section: Introductionmentioning

confidence: 99%

Diagnosis and management of children with primary ciliary dyskinesia

Harris¹

2017

Nursing Children and Young People

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“…A systematic review suggested that 58% of women and 100% of men were infertile, but the included studies were highly heterogeneous [1]. MUNRO et al [85] reported azoospermia and oligospermia in a small sample size, with normal motility seen in only one patient.…”

Section: Fertilitymentioning

confidence: 99%

“…Over 20% of patients included in the PCD Registry and 10% of studies included in a recent meta-analysis had diagnosis based on suggestive clinical history only, without diagnostic test confirmation [1,33].…”

Section: Pcd Diagnosismentioning

confidence: 99%

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Clinical care for primary ciliary dyskinesia: current challenges and future directions

Rubbo

Lucas

2017

Eur Respir Rev

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Primary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia, leading to impaired mucociliary clearance. It is estimated that the vast majority of patients with PCD have not been diagnosed as such, providing a major obstacle to delivering appropriate care. Challenges in diagnosing PCD include lack of disease-specific symptoms and absence of a single, "gold standard", diagnostic test. Management of patients is currently not based on high-level evidence because research findings are mostly derived from small observational studies with limited follow-up period. In this review, we provide a critical overview of the available literature on clinical care for PCD patients, including recent advances. We identify barriers to PCD research and make suggestions for overcoming challenges.

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Contemporary Classification of Chronic Rhinosinusitis Beyond Polyps vs No Polyps

Grayson

Hopkins

Mori

et al. 2020

JAMA Otolaryngol Head Neck Surg

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IMPORTANCE Chronic rhinosinusitis (CRS) is a broadly defined process that has previously been used to describe many different sinonasal pathologic conditions from odontogenic sinusitis and allergic fungal sinusitis to the more contemporary definition of broad inflammatory airway conditions. Previous classification systems have dichotomized these conditions into CRS with nasal polyps and CRS without nasal polyps. However, clinicians are learning more about the inflammatory subtypes of CRS, which can lead to improved delivery and effectiveness of treatment.OBSERVATIONS In clinical practice, treatment decisions are often based on observable findings, clinical history, presumed disease, and molecular pathophysiologic characteristics. A proposed classification system is simple and practical. It proposes that the functional anatomical compartments involved create the first level of separation into local and diffuse CRS, which are usually unilateral or bilateral in distribution. Diffuse does not imply "pansinusitis" but simply that the disease is not confined to a known functional anatomical unit. This classification takes into account whether local anatomical factors are associated with pathogenesis. Then the inflammatory endotype dominance is separated into a type 2 skewed inflammation, as this has both causal and treatment implications. The non-type 2 CRS encompasses everything else that is not yet known about inflammation and may change over time. The phenotypes or clinical examples are CRS entities that have been described and how they align with this system. CONCLUSIONS AND RELEVANCEAlthough research continues to further define the subtypes of CRS into phenotypes and endotypes, the proposed classification system of primary CRS by anatomical distribution and endotype dominance allows for a pathway forward.

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Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis

Cited by 188 publications

References 74 publications

Diagnosis and management of children with primary ciliary dyskinesia

Diagnosis and management of children with primary ciliary dyskinesia

Clinical care for primary ciliary dyskinesia: current challenges and future directions

Contemporary Classification of Chronic Rhinosinusitis Beyond Polyps vs No Polyps

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