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  1. Article: One person can make a difference: identification of people with a rare genetic lung disease.

    Horani, Amjad / Brody, Steven L

    ERJ open research

    2023  Volume 9, Issue 2

    Abstract: To improve access to care for rare conditions in resource-restricted regions, a concerted effort to establish centres of excellence and training of local physicians is ... ...

    Abstract To improve access to care for rare conditions in resource-restricted regions, a concerted effort to establish centres of excellence and training of local physicians is needed
    Language English
    Publishing date 2023-04-17
    Publishing country England
    Document type Editorial
    ZDB-ID 2827830-6
    ISSN 2312-0541
    ISSN 2312-0541
    DOI 10.1183/23120541.00122-2023
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Understanding Primary Ciliary Dyskinesia and Other Ciliopathies.

    Horani, Amjad / Ferkol, Thomas W

    The Journal of pediatrics

    2020  Volume 230, Page(s) 15–22.e1

    MeSH term(s) Cilia/ultrastructure ; Ciliary Motility Disorders/diagnosis ; Ciliary Motility Disorders/genetics ; Ciliary Motility Disorders/therapy ; Humans
    Language English
    Publishing date 2020-11-23
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Review
    ZDB-ID 3102-1
    ISSN 1097-6833 ; 0022-3476
    ISSN (online) 1097-6833
    ISSN 0022-3476
    DOI 10.1016/j.jpeds.2020.11.040
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  3. Article ; Online: Variations in infection control practices suggest a need for guidelines in primary ciliary dyskinesia patient care.

    Caliskan, Ayse B / Horani, Amjad / Manion, Michele / Brody, Steven L

    Pediatric pulmonology

    2022  Volume 57, Issue 4, Page(s) 1072–1075

    Abstract: Primary ciliary dyskinesis (PCD) is an autosomal recessive disorder associated with impaired mucociliary clearance caused by defects in ciliary structure and function. The major clinical feature of PCD is recurring or persistent respiratory tract ... ...

    Abstract Primary ciliary dyskinesis (PCD) is an autosomal recessive disorder associated with impaired mucociliary clearance caused by defects in ciliary structure and function. The major clinical feature of PCD is recurring or persistent respiratory tract infection. Respiratory tract colonization with drug-resistant organisms impacts the frequency of infections and lung function decline. Protective gear has been employed by caregivers in an attempt to control respiratory tract bacterial spread between patients with cystic fibrosis, but use in PCD is not known. We conducted a web-based survey to investigate infection control and prevention practices of PCD centers in North America, and how practices have been influenced by the COVID-19 pandemic. The response rate was 87.0%. Before the COVID-19 pandemic, glove, gown, and mask use were variable, and only 3.7% of centers used masks during encounters with PCD outpatients. After COVID-19 mandates are lifted, 48.1% of centers plan to continue to use masks during outpatient care, while the practice regarding the use of gloves and gowns was not influenced by the current pandemic. There is no uniform practice for infection control in PCD care indicating the need for practice guidelines. Mitigation of respiratory virus transmission learned during the COVID-19 pandemic may impact future infection control approaches used for patients with PCD and other lung diseases.
    MeSH term(s) COVID-19/prevention & control ; Ciliary Motility Disorders/complications ; Cystic Fibrosis/complications ; Humans ; Infection Control ; Kartagener Syndrome/complications ; Kartagener Syndrome/therapy ; Pandemics/prevention & control ; Patient Care
    Language English
    Publishing date 2022-01-28
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 632784-9
    ISSN 1099-0496 ; 8755-6863
    ISSN (online) 1099-0496
    ISSN 8755-6863
    DOI 10.1002/ppul.25836
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    Zs.A 2143: Show issues Location:
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  4. Article: Progress in Diagnosing Primary Ciliary Dyskinesia: The North American Perspective.

    O'Connor, Michael Glenn / Horani, Amjad / Shapiro, Adam J

    Diagnostics (Basel, Switzerland)

    2021  Volume 11, Issue 7

    Abstract: Primary Ciliary Dyskinesia (PCD) is a rare, under-recognized disease that affects respiratory ciliary function, resulting in chronic oto-sino-pulmonary disease. The PCD clinical phenotype overlaps with other common respiratory conditions and no single ... ...

    Abstract Primary Ciliary Dyskinesia (PCD) is a rare, under-recognized disease that affects respiratory ciliary function, resulting in chronic oto-sino-pulmonary disease. The PCD clinical phenotype overlaps with other common respiratory conditions and no single diagnostic test detects all forms of PCD. In 2018, PCD experts collaborated with the American Thoracic Society (ATS) to create a clinical diagnostic guideline for patients across North America, specifically considering the local resources and limitations for PCD diagnosis in the United States and Canada. Nasal nitric oxide (nNO) testing is recommended for first-line testing in patients ≥5 years old with a compatible clinical phenotype; however, all low nNO values require confirmation with genetic testing or ciliary electron micrograph (EM) analysis. Furthermore, these guidelines recognize that not all North American patients have access to nNO testing and isolated genetic testing is appropriate in cases with strong clinical PCD phenotypes. For unresolved diagnostic cases, referral to a PCD Foundation accredited center is recommended. The purpose of this narrative review is to provide insight on the North American PCD diagnostic process, to enhance the understanding of and adherence to current guidelines, and to promote collaboration with diagnostic pathways used outside of North America.
    Language English
    Publishing date 2021-07-16
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2662336-5
    ISSN 2075-4418
    ISSN 2075-4418
    DOI 10.3390/diagnostics11071278
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  5. Article ; Online: Frequenting Sequencing: How Genetics Teaches Us Cilia Biology.

    Horani, Amjad / Brody, Steven L

    American journal of respiratory cell and molecular biology

    2019  Volume 61, Issue 4, Page(s) 403–404

    MeSH term(s) Cilia ; Dyneins ; Humans ; Kartagener Syndrome ; Mutation
    Chemical Substances Dyneins (EC 3.6.4.2)
    Language English
    Publishing date 2019-03-21
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 1025960-0
    ISSN 1535-4989 ; 1044-1549
    ISSN (online) 1535-4989
    ISSN 1044-1549
    DOI 10.1165/rcmb.2019-0103ED
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    Zs.A 2851: Show issues Location:
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  6. Article ; Online: Advances in the Genetics of Primary Ciliary Dyskinesia: Clinical Implications.

    Horani, Amjad / Ferkol, Thomas W

    Chest

    2018  Volume 154, Issue 3, Page(s) 645–652

    Abstract: Primary ciliary dyskinesia is a rare genetic disease of the motile cilia and is one of a rapidly expanding collection of disorders known as ciliopathies. Patients with primary ciliary dyskinesia have diverse clinical manifestations, including chronic ... ...

    Abstract Primary ciliary dyskinesia is a rare genetic disease of the motile cilia and is one of a rapidly expanding collection of disorders known as ciliopathies. Patients with primary ciliary dyskinesia have diverse clinical manifestations, including chronic upper and lower respiratory tract disease, left-right laterality defects, and infertility. In recent years, our understanding of the genetics of primary ciliary dyskinesia has rapidly advanced. A growing number of disease-associated genes and pathogenic mutations have been identified, which encode axonemal, cytoplasmic, and regulatory proteins involved in the assembly, structure, and function of motile cilia. Our knowledge of cilia genetics and the function of the proteins encoded has led to a greater understanding of the clinical manifestations of motile ciliopathies. These advances have changed our approach toward diagnostic testing for primary ciliary dyskinesia. In this review, we will describe how new insights into genetics have allowed us to define the clinical features of primary ciliary dyskinesia, revolutionize diagnostics, and reveal previously unrecognized genotype-phenotype relationships in primary ciliary dyskinesia.
    MeSH term(s) Genetic Testing ; Genotype ; Humans ; Kartagener Syndrome/diagnosis ; Kartagener Syndrome/genetics ; Phenotype
    Language English
    Publishing date 2018-05-22
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1032552-9
    ISSN 1931-3543 ; 0012-3692
    ISSN (online) 1931-3543
    ISSN 0012-3692
    DOI 10.1016/j.chest.2018.05.007
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    Ui III Zs.45: Show issues Location:
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  7. Article: Ultrastructure expansion microscopy (U-ExM) of mouse and human kidneys for analysis of subcellular structures.

    Langner, Ewa / Puapatanakul, Pongpratch / Pudlowski, Rachel / Alsabbagh, Dema Yaseen / Miner, Jeffrey H / Horani, Amjad / Dutcher, Susan K / Brody, Steven L / Wang, Jennifer T / Suleiman, Hani Y / Mahjoub, Moe R

    bioRxiv : the preprint server for biology

    2024  

    Abstract: Ultrastructure expansion microscopy (U-ExM) involves the physical magnification of specimens embedded in hydrogels, which allows for super-resolution imaging of subcellular structures using a conventional diffraction-limited microscope. Methods for ... ...

    Abstract Ultrastructure expansion microscopy (U-ExM) involves the physical magnification of specimens embedded in hydrogels, which allows for super-resolution imaging of subcellular structures using a conventional diffraction-limited microscope. Methods for expansion microscopy exist for several organisms, organs, and cell types, and used to analyze cellular organelles and substructures in nanoscale resolution. Here, we describe a simple step-by-step U-ExM protocol for the expansion, immunostaining, imaging, and analysis of cytoskeletal and organellar structures in kidney tissue. We detail the critical modified steps to optimize isotropic kidney tissue expansion, and preservation of the renal cell structures of interest. We demonstrate the utility of the approach using several markers of renal cell types, centrioles, cilia, the extracellular matrix, and other cytoskeletal elements. Finally, we show that the approach works well on mouse and human kidney samples that were preserved using different fixation and storage conditions. Overall, this protocol provides a simple and cost-effective approach to analyze both pre-clinical and clinical renal samples in high detail, using conventional lab supplies and standard widefield or confocal microscopy.
    Language English
    Publishing date 2024-02-17
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2024.02.16.580708
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  8. Article ; Online: Antigen stasis and airway nitrosative stress in human primary ciliary dyskinesia.

    Gaston, Benjamin / Smith, Laura A / Davis, Michael D / Saunders, Jessica / Daniels, Ivana / Horani, Amjad / Brody, Steven L / Giddings, Olivia / Zhao, Yi / Marozkina, Nadzeya

    American journal of physiology. Lung cellular and molecular physiology

    2024  Volume 326, Issue 4, Page(s) L468–L476

    Abstract: Nasal nitric oxide (nNO) is low in most patients with primary ciliary dyskinesia (PCD). Decreased ciliary motion could lead to antigen stasis, increasing oxidant production and NO oxidation in the airways. This could both decrease gas phase NO and ... ...

    Abstract Nasal nitric oxide (nNO) is low in most patients with primary ciliary dyskinesia (PCD). Decreased ciliary motion could lead to antigen stasis, increasing oxidant production and NO oxidation in the airways. This could both decrease gas phase NO and increase nitrosative stress. We studied primary airway epithelial cells from healthy controls (HCs) and patients with PCD with several different genotypes. We measured antigen clearance in fenestrated membranes exposed apically to the fluorescently labeled antigen
    MeSH term(s) Humans ; Hydrogen Peroxide ; Nitrosative Stress ; Breath Tests ; Nitric Oxide/metabolism ; Biomarkers/metabolism ; Ciliary Motility Disorders ; Kartagener Syndrome/metabolism
    Chemical Substances Hydrogen Peroxide (BBX060AN9V) ; Nitric Oxide (31C4KY9ESH) ; Biomarkers
    Language English
    Publishing date 2024-02-06
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1013184-x
    ISSN 1522-1504 ; 1040-0605
    ISSN (online) 1522-1504
    ISSN 1040-0605
    DOI 10.1152/ajplung.00208.2022
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  9. Article ; Online: Primary ciliary dyskinesia and associated sensory ciliopathies.

    Horani, Amjad / Ferkol, Thomas W

    Expert review of respiratory medicine

    2016  Volume 10, Issue 5, Page(s) 569–576

    Abstract: Primary ciliary dyskinesia (PCD) is a genetic disease of motile cilia, which belongs to a group of disorders resulting from dysfunction of cilia, collectively known as ciliopathies. Insights into the genetics and phenotypes of PCD have grown over the ... ...

    Abstract Primary ciliary dyskinesia (PCD) is a genetic disease of motile cilia, which belongs to a group of disorders resulting from dysfunction of cilia, collectively known as ciliopathies. Insights into the genetics and phenotypes of PCD have grown over the last decade, in part propagated by the discovery of a number of novel cilia-related genes. These genes encode proteins that segregate into structural axonemal, regulatory, as well as cytoplasmic assembly proteins. Our understanding of primary (sensory) cilia has also expanded, and an ever-growing list of diverse conditions has been linked to defective function and signaling of the sensory cilium. Recent multicenter clinical and genetic studies have uncovered the heterogeneity of motile and sensory ciliopathies, and in some cases, the overlap between these conditions. Here, we will describe the genetics and pathophysiology of ciliopathies in children, focusing on PCD, review emerging genotype-phenotype relationships, and diagnostic tools available for the clinician.
    MeSH term(s) Ciliopathies/genetics ; Genotype ; Humans ; Kartagener Syndrome/genetics ; Phenotype
    Language English
    Publishing date 2016
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2479146-5
    ISSN 1747-6356 ; 1747-6348
    ISSN (online) 1747-6356
    ISSN 1747-6348
    DOI 10.1586/17476348.2016.1165612
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  10. Article: Loss of an extensive ciliary connectome induces proteostasis and cell fate switching in a severe motile ciliopathy.

    Brody, Steven L / Pan, Jiehong / Huang, Tao / Xu, Jian / Xu, Huihui / Koenitizer, Jeffrey / Brennan, Steven K / Nanjundappa, Rashmi / Saba, Thomas G / Berical, Andrew / Hawkins, Finn J / Wang, Xiangli / Zhang, Rui / Mahjoub, Moe R / Horani, Amjad / Dutcher, Susan K

    bioRxiv : the preprint server for biology

    2024  

    Abstract: Motile cilia have essential cellular functions in development, reproduction, and homeostasis. Genetic causes for motile ciliopathies have been identified, but the consequences on cellular functions beyond impaired motility remain unknown. Variants ... ...

    Abstract Motile cilia have essential cellular functions in development, reproduction, and homeostasis. Genetic causes for motile ciliopathies have been identified, but the consequences on cellular functions beyond impaired motility remain unknown. Variants in
    Language English
    Publishing date 2024-03-21
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2024.03.20.585965
    Database MEDical Literature Analysis and Retrieval System OnLINE

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