1,458 results match your criteria Kartagener Syndrome


Renal Carcinoma and Kartagener Syndrome: An Unusual Association.

Case Rep Urol 2020 16;2020:8260191. Epub 2020 May 16.

Department of Urology A, Ibn Sina Hospital, Mohammed V University, Rabat, Morocco.

Background: The association of renal cell carcinoma and Kartagener's syndrome is unusual, and only eleven cases have been reported in the literature. The purpose of this work is to analyze this unusual association of Kartagener's syndrome and renal cell tumor and to study the main diagnostic and therapeutic aspects through our observation and review of the literature. . Read More

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http://dx.doi.org/10.1155/2020/8260191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7246399PMC

Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome.

Biosci Rep 2020 Jun;40(6)

Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.

Kartagener syndrome (KS), a subtype of primary ciliary dyskinesia (PCD), is characterized by bronchiectasis, chronic sinusitis, male infertility and situs inversus. KS is a genetically heterogeneous disease that is inherited in an autosomal recessive form; however, X-linked inheritance has also been reported. As of this writing [late 2020], at least 34 loci, most of which have known genes, have been reported in the literature as associating with KS. Read More

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http://dx.doi.org/10.1042/BSR20192510DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7298131PMC

Double lung transplantation for end-stage Kartagener syndrome: a case report and literature review.

J Thorac Dis 2020 Apr;12(4):1588-1594

Department of Thoracic Surgery, Renmin Hospital of Wuhan University, Wuhan 430060, China.

Kartagener syndrome (KS) is an autosomal recessive disorder characterized by situs inversus, paranasal sinusitis and bronchiectasis. We report the successful use of double lung transplant (DLTx) to treat end-stage KS. A 49-year-old Han woman was admitted to Renmin Hospital (Wuhan University, China) in September 2017 with a ≥15 year history of chronic productive cough that had worsened during the past year. Read More

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http://dx.doi.org/10.21037/jtd.2020.02.28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212169PMC

Technical Challenges in Lung Transplantation of Kartagener Syndrome Recipients: A Unique Team Experience With 12 Patients.

Transplant Proc 2020 Jun 14;52(5):1384-1387. Epub 2020 Apr 14.

Lung Transplantation Division, Thoracic Surgery Department, Instituto do Coração do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil; Lung Transplantation Department, Hospital Israelita Albert Einstein, São Paulo, Brazil.

Kartagener syndrome (KS) is a rare congenital disorder related to bronchiectasis, chronic sinusitis, and situs inversus, predisposing patients to recurrent respiratory infections that can evolve to end-stage lung disease; lung transplantation (LTx) is one of the therapeutic options. This study highlights some concerns in this group of patients, mainly related to the difficulty of performing the transplantation in recipients with suppurative disease and situs inversus. We conducted a retrospective analysis of all KS patients who underwent LTx at 2 national reference centers by the same LTx team. Read More

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http://dx.doi.org/10.1016/j.transproceed.2020.02.031DOI Listing

Pulmonary mucoepidermoid carcinoma arising in a patient with Kartagener syndrome.

BMC Pulm Med 2020 Apr 16;20(1):93. Epub 2020 Apr 16.

Department of Respiratory Medicine, Jichi Medical University, Shimotsuke, Japan.

Background: Kartagener syndrome, an autosomal recessive disorder with a triad of chronic sinusitis, bronchiectasis, and situs inversus, is characterized by recurrent respiratory tract infections and chronic inflammation of the lung. Information on comorbidities other than infections in patients with Kartagener syndrome is currently limited.

Case Presentation: A 39-year-old, non-smoking female was diagnosed with Kartagener syndrome and admitted to Saitama Medical Center, Jichi Medical University, Japan. Read More

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http://dx.doi.org/10.1186/s12890-020-1133-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7161191PMC

A rare cause of acute abdominal pain in a patient with Primary ciliary dyskinesia with situs inversus totalis.

Turk J Pediatr 2020 ;62(1):156-159

Departments of Pediatric Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Primary ciliary dyskinesia (PCD) is a rare, genetic disease characterized by ciliary dysfunction. Patients may present with respiratory distress during neonatal period; chronic sinopulmonary disease, bronchiectasis, recurrent otitis media, sinusitis and infertility in later periods. About 50% of PCD patients have situs inversus totalis and 6-12% have situs ambiguous known as heterotaxy syndromes. Read More

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http://dx.doi.org/10.24953/turkjped.2020.01.024DOI Listing
January 2020

Kartagener Syndrome.

Am J Med Sci 2020 06 21;359(6):390-391. Epub 2020 Feb 21.

Department of Respiratory and Critical Care Medicine, West China School of Medicine and West China Hospital, Sichuan University, Chengdu, China. Electronic address:

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http://dx.doi.org/10.1016/j.amjms.2020.02.003DOI Listing

Acute Appendicitis in Patients with Kartagener Syndrome.

Case Rep Surg 2020 27;2020:8716474. Epub 2020 Feb 27.

Department of General Surgery, Santa Casa de São Carlos, SP, Brazil.

Situs inversus totalis is a congenital syndrome characterized by a total left-right transposition of all abdominal and thoracic organs. It may be associated with chronic respiratory conditions such as sinusitis and bronchiectasis, composing the Kartagener syndrome. If not detected, this condition may compromise the early diagnosis of surgical emergencies such as cholecystitis and appendicitis. Read More

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http://dx.doi.org/10.1155/2020/8716474DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7063213PMC
February 2020

Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough.

Adv Med Sci 2020 Mar 10;65(1):1-11. Epub 2019 Dec 10.

Institute of Biomedical Sciences Abel Salazar, University of Porto, Porto, Portugal; Multidisciplinary Unit for Biomedical Research, Institute of Biomedical Sciences Abel Salazar, University of Porto, Porto, Portugal. Electronic address:

Purpose: Primary ciliary dyskinesia (PCD) is a ciliopathy caused by dysfunction of motile cilia. As there is still no standard PCD diagnostics, the final diagnosis requires a combination of several tests. The genetic screening is a hallmark for the final diagnosis and requires high-throughput techniques, such as whole-exome sequencing (WES). Read More

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http://dx.doi.org/10.1016/j.advms.2019.10.003DOI Listing

Nasal Nitric Oxide Measurement in Primary Ciliary Dyskinesia. A Technical Paper on Standardized Testing Protocols.

Ann Am Thorac Soc 2020 02;17(2):e1-e12

Department of Pediatrics, and.

Nasal nitric oxide concentrations are extremely low in primary ciliary dyskinesia (PCD), and measurement of this nasal gas is recommended as a PCD diagnostic test in cooperative patients aged 5 years and older. However, nasal nitric oxide measurements must be performed with chemiluminescence analyzers using a standardized protocol to ensure proper results, because nasal nitric oxide values can be influenced by various internal and external factors. Repeat nasal nitric oxide testing on separate visits is required to ensure that low diagnostic values are persistent and consistent with PCD. Read More

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http://dx.doi.org/10.1513/AnnalsATS.201904-347OTDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993796PMC
February 2020

Errors in Methodology Affect Diagnostic Accuracy of High-Speed Videomicroscopy Analysis in Primary Ciliary Dyskinesia.

Chest 2019 11;156(5):1032-1033

Department of Medicine, Marsico Lung Institute, University of North Carolina School of Medicine, Chapel Hill, NC.

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http://dx.doi.org/10.1016/j.chest.2019.06.021DOI Listing
November 2019

[Kartagener's syndrome found incidentally during assessment of infertile couple: a case study].

Pan Afr Med J 2019 21;33:316. Epub 2019 Aug 21.

Service de Radiologie du CHU de Yopougon, Abidjan, Côte d'Ivoire.

Kartagener's syndrome is a rare primitive ciliary dyskinesia (DCP) characterized by a clinical triad: sinusitis, bronchiectasis and complete or incomplete situs inversus. It is a rare congenital autosomal recessive disease. We report a case of Kartagener syndrome in an infertile couple with akinospermia detected using spermogram. Read More

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http://dx.doi.org/10.11604/pamj.2019.33.316.16919DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6815473PMC
November 2019
1 Read

Nasal nitric oxide levels in primary ciliary dyskinesia, cystic fibrosis and healthy children.

Turk J Pediatr 2019 ;61(1):20-25

Division of Pediatric Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Güney E, Emiralioğlu N, Cinel G, Yalçın E, Doğru D, Kiper N, Özçelik HU. Nasal nitric oxide levels in primary ciliary dyskinesia, cystic fibrosis and healthy children. Turk J Pediatr 2019; 61: 20-25. Read More

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http://dx.doi.org/10.24953/turkjped.2019.01.004DOI Listing
January 2020
2 Reads

Prevalence and course of disease after lung resection in primary ciliary dyskinesia: a cohort & nested case-control study.

Respir Res 2019 Sep 18;20(1):212. Epub 2019 Sep 18.

Respiratory Physiology Laboratory, Medical School, University of Cyprus, Nicosia, Cyprus.

Background: Lung resection is a controversial and understudied therapeutic modality in Primary Ciliary Dyskinesia (PCD). We assessed the prevalence of lung resection in PCD across countries and compared disease course in lobectomised and non-lobectomised patients.

Methods: In the international iPCD cohort, we identified lobectomised and non-lobectomised age and sex-matched PCD patients and compared their characteristics, lung function and BMI cross-sectionally and longitudinally. Read More

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http://dx.doi.org/10.1186/s12931-019-1183-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6751891PMC
September 2019
7 Reads

Identification of Pathogenic Mutations and Investigation of the NOTCH Pathway Activation in Kartagener Syndrome.

Front Genet 2019 22;10:749. Epub 2019 Aug 22.

Key Laboratory of Shenzhen Respiratory Diseases, Department of Pulmonary and Critical Care Medicine, Shenzhen Institute of Respiratory Disease, The First Affiliated Hospital of Southern University of Science and Technology, The Second Clinical Medical College of Jinan University, Shenzhen People's Hospital, Shenzhen, China.

Primary ciliary dyskinesia (PCD), a rare genetic disorder, is mostly caused by defects in more than 40 known cilia structure-related genes. However, in approximately 20-35% of patients, it is caused by unknown genetic factors, and the inherited pathogenic factors are difficult to confirm. Kartagener syndrome (KTS) is a subtype of PCD associated with situs inversus, presenting more complex genetic heterogeneity. Read More

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http://dx.doi.org/10.3389/fgene.2019.00749DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6713718PMC
August 2019
8 Reads

Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele.

Hum Mutat 2020 Jan 15;41(1):115-121. Epub 2019 Sep 15.

INSERM UMR_S933, Sorbonne Université, U.F. de Génétique moléculaire (AP-HP), Hôpital Armand-Trousseau, Paris, France.

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease of motile cilia. Even though PCD is widely studied, North-African patients have been rarely explored. In this study, we aim at confirming the clinical diagnosis and explore the genetic spectrum of PCD in a cohort of Tunisian patients. Read More

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http://dx.doi.org/10.1002/humu.23905DOI Listing
January 2020
3 Reads
5.144 Impact Factor

Individualized physical training in the therapy of Primary Ciliary Dyskinesia - A case report.

Respir Med Case Rep 2019 16;28:100925. Epub 2019 Aug 16.

Department of Molecular and Cellular Sport Medicine, Institute of Cardiovascular Research and Sport Medicine, German Sport University Cologne, Am Sportpark Müngersdorf 6, 50933, Cologne, Germany.

Background: Primary Ciliary Dyskinesia (PCD) is an autosomal recessive disease, characterized by ciliary dysfunction and impaired mucociliary clearance. Previous studies have indicated a low physical fitness in PCD patients but currently it is not known whether physical training beneficially affects fitness, inflammatory markers and quality of life.

Case Presentation: The patient was a Caucasian male (67. Read More

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http://dx.doi.org/10.1016/j.rmcr.2019.100925DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6710229PMC
August 2019
1 Read

Clinical and Genetic Analysis of Children with Kartagener Syndrome.

Cells 2019 08 15;8(8). Epub 2019 Aug 15.

Laboratory of Cell Biology, Department of Microscopy, Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto (UP), Rua Jorge Viterbo Ferreira, 228, 4050-313 Porto, Portugal.

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia causing ineffective mucus clearance and organ laterality defects. In this study, two unrelated Portuguese children with strong PCD suspicion underwent extensive clinical and genetic assessments by whole-exome sequencing (WES), as well as ultrastructural analysis of cilia by transmission electron microscopy (TEM) to identify their genetic etiology. These analyses confirmed the diagnostic of Kartagener syndrome (KS) (PCD with ). Read More

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http://dx.doi.org/10.3390/cells8080900DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6721662PMC
August 2019
5 Reads

A case of protein-losing gastroenteropathy caused by systemic AA amyloidosis secondary to undifferentiated carcinoma of unknown primary origin.

Oxf Med Case Reports 2019 Aug;2019(8)

Department of Pulmonology, Kameda Medical Center, 929 Higashi-cho, Kamogawa 296-8602, Chiba Prefecture, Japan.

We report the case of a 61-year-old woman with Kartagener syndrome who presented with a 3-month history of chronic watery diarrhoea and severe hypoalbuminaemia. Histopathological examination of duodenum and large intestine biopsies showed amyloid A (AA) amyloid deposition. Scintigraphy and alpha-1 anti-trypsin clearance evaluations revealed protein-losing gastroenteropathy. Read More

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https://academic.oup.com/omcr/article/doi/10.1093/omcr/omz07
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http://dx.doi.org/10.1093/omcr/omz074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688888PMC
August 2019
8 Reads

Laparoscopic sleeve gastrectomy in a patient with and Kartagener syndrome: an unusual surgical conundrum.

BMJ Case Rep 2019 Jul 24;12(7). Epub 2019 Jul 24.

School of Surgery, University of Western Australia, Crawley, Western Australia, Australia.

Kartagener syndrome is a rare autosomal recessive condition. Approximately 25% of those with suffer the syndrome. With the rising overall number and indications for bariatric surgery, this condition will be increasingly recognised. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2019-22955
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http://dx.doi.org/10.1136/bcr-2019-229550DOI Listing
July 2019
11 Reads

Primary ciliary dyskinesia in Japan: systematic review and meta-analysis.

BMC Pulm Med 2019 Jul 25;19(1):135. Epub 2019 Jul 25.

Department of Pathophysiology and Host Defense, the Research Institute of Tuberculosis, Japan Anti-tuberculosis Association, 3-1-24, Matsuyama, Kiyose, Tokyo, 204-8533, Japan.

Background: Primary ciliary dyskinesia (PCD) is a rare genetic disorder. Although the genetic tests and new diagnostic algorithms have recently been recommended, clinical signs and electron microscope (EM) findings have historically been the mainstays of diagnosis in Asia. To characterize PCD previously reported in Japan, we conducted a systematic review and meta-analysis. Read More

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http://dx.doi.org/10.1186/s12890-019-0897-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659197PMC
July 2019
3 Reads

Wide phenotypic variability in RSPH9-associated primary ciliary dyskinesia: review of a case-series from Cyprus.

J Thorac Dis 2019 May;11(5):2067-2075

Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Background: Primary ciliary dyskinesia (PCD) is an inherited ciliary motility disorder caused by mutations in at least 40 genes. gene mutations encoding aberrant radial spoke head proteins have been linked with PCD. The clinical spectrum extent of gene mutations remains to date largely unknown. Read More

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http://dx.doi.org/10.21037/jtd.2019.04.71DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6588774PMC
May 2019
4 Reads

Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction.

J Assist Reprod Genet 2019 Aug 29;36(8):1683-1700. Epub 2019 Jun 29.

Laboratory of Cell Biology, Department of Microscopy, Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto (UP), Rua Jorge Viterbo Ferreira, 228, 4050-313, Porto, Portugal.

Propose: To study CCDC103 expression profiles and understand how pathogenic variants in CCDC103 affect its expression profile at mRNA and protein level.

Methods: To increase the knowledge about the CCDC103, we attempted genotype-phenotype correlations in two patients carrying novel homozygous (missense and frameshift) CCDC103 variants. Whole-exome sequencing, quantitative PCR, Western blot, electron microscopy, immunohistochemistry, immunocytochemistry, and immunogold labelling were performed to characterize CCDC103 expression profiles in reproductive and somatic cells. Read More

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http://dx.doi.org/10.1007/s10815-019-01509-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6708006PMC
August 2019
2 Reads

Three Cases of Primary Ciliary Dyskinesia Combined With Reduced Exhaled Nitric Oxide.

Ann Otol Rhinol Laryngol 2019 Nov 4;128(11):1081-1085. Epub 2019 Jul 4.

Department of Otorhinolaryngology, Yonsei University Wonju College of Medicine, South Korea.

Objectives: The diagnosis of primary ciliary dyskinesia (PCD) is often delayed in part related to the limitations of the available diagnostic tests. We present 3 cases of PCD diagnosed using an exhaled nitric oxide (eNO) measurement.

Methods: Three cases with a clinical phenotype consistent with PCD were evaluated using an eNO assay with additional transmission electron microscopy (TEM) and/or genetic panel testing. Read More

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http://dx.doi.org/10.1177/0003489419861119DOI Listing
November 2019
3 Reads

Cost-effectiveness analysis of three algorithms for diagnosing primary ciliary dyskinesia: a simulation study.

Orphanet J Rare Dis 2019 06 13;14(1):142. Epub 2019 Jun 13.

Respiratory Physiology Laboratory, Medical School, University of Cyprus, Nicosia, Cyprus.

Background: Primary Ciliary Dyskinesia (PCD) diagnosis relies on a combination of tests which may include (a) nasal Nitric Oxide (nNO), (b) High Speed Video Microscopy (HSVM) and (c) Transmission Electron Microscopy (TEM). There is variability in the availability of these tests and lack of universal agreement whether diagnostic tests should be performed in sequence or in parallel. We assessed three combinations of tests for PCD diagnosis and estimated net sensitivity and specificity as well as cost-effectiveness (CE) and incremental cost-effectiveness (ICE) ratios. Read More

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http://dx.doi.org/10.1186/s13023-019-1116-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6567920PMC
June 2019
9 Reads

Clinical and genetic analysis of patients with primary ciliary dyskinesia caused by novel DNAAF3 mutations.

J Hum Genet 2019 Aug 12;64(8):711-719. Epub 2019 Jun 12.

Respirology Department, Children's Hospital of Fudan University, 399 Wan Yuan Road, Shanghai, 201102, PR China.

Primary ciliary dyskinesia (PCD) is a rare phenotypically and genetically heterogeneous disorder resulting from abnormal cilia ultrastructure and function. Few studies have reported the phenotype and genetic characteristics of PCD caused by mutations in DNAAF3. In this study, four PCD patients with DNAAF3 mutations underwent extensive clinical assessments, cilia ultrastructural and motion evaluations. Read More

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http://dx.doi.org/10.1038/s10038-019-0609-1DOI Listing
August 2019
13 Reads

Asthma as aetiology of bronchiectasis in Finland.

Respir Med 2019 06 30;152:105-111. Epub 2019 Apr 30.

University of Helsinki and Helsinki University Hospital, Respiratory Diseases and Allergology, Helsinki, Finland.

Background: By definition bronchiectasis (BE) means destructed structure of normal bronchus as a consequence of frequent bacterial infections and inflammation. In many senses, BE is a neglected orphan disease. A recent pan-European registry study, EMBARC, has been set up in order to better understand its pathophysiology, better phenotype patients, and to individualize their management. Read More

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http://dx.doi.org/10.1016/j.rmed.2019.04.022DOI Listing
June 2019
10 Reads

A Japanese Case of Primary Ciliary Dyskinesia with DNAH5 Mutations.

Intern Med 2019 Aug 22;58(16):2383-2386. Epub 2019 May 22.

First Department of Medicine Tokyo Women's Medical University, Japan.

A 33-year-old woman presented with a productive cough from childhood. She had suffered from repeated bacterial pneumonia. Her clinical and imaging findings revealed chronic sinusitis, bronchiectasis and situs inversus. Read More

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http://dx.doi.org/10.2169/internalmedicine.1961-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6746640PMC
August 2019
23 Reads

Critical Evaluation of Sinonasal Disease in 64 Adults with Primary Ciliary Dyskinesia.

J Clin Med 2019 May 7;8(5). Epub 2019 May 7.

INSERM, U955, Créteil 94010, France.

To date, no study precisely described ear, nose and throat (ENT) disease in adults with primary ciliary dyskinesia (PCD) and its relationship with ciliary function/ultrastructure. A retrospective study of standardized ENT data (exam, audiogram, sinus Computed tomography (CT), and bacteriology) was conducted in 64 adults with confirmed PCD who were followed in two ENT reference centers. Rhinorrhoea and hearing loss were the main symptoms. Read More

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http://dx.doi.org/10.3390/jcm8050619DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6571605PMC
May 2019
19 Reads

[Kartagener syndrome: neonatal diagnosis. A case report].

Arch Argent Pediatr 2019 06;117(3):e292-e296

Hospital Universitario Infanta Leonor, Madrid, España.

Kartagener Syndrome is an inherited autosomal recessive disorder characterized by primary ciliary dyskinesia and the triad of situs inversus viscerum, chronic sinus disease and bronchiectasis. Its prevalence varies from 1/15 000 to 1/30 000 but it is estimated that a lot of patients with primary ciliary dyskinesia have not been diagnosed as such. Its clinical presentation is non-specific and heterogeneous, and there is not a single, gold standard, diagnostic test. Read More

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https://www.sap.org.ar/docs/publicaciones/archivosarg/2019/v
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http://dx.doi.org/10.5546/aap.2019.e292DOI Listing
June 2019
19 Reads

Additional role of bronchial mucosal biopsy for ciliary structural abnormality in diagnosis of primary ciliary dyskinesia.

J Thorac Dis 2019 Mar;11(3):839-847

Division of Pulmonary and Critical Care Medicine, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.

Background: Transmission electron microscopy (TEM) is one of diagnostic tests for primary ciliary dyskinesia (PCD). The mucosal samples obtained for cilia examination are generally procured from the nasal turbinate, but these specimens often yield inadequate results. The bronchial mucosa is recognized as an alternative sample, but no study has examined the additional utility of bronchial mucosa compared with nasal mucosa in the diagnosis of PCD. Read More

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http://dx.doi.org/10.21037/jtd.2019.02.24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6462704PMC
March 2019
8 Reads

Frequenting Sequencing: How Genetics Teaches Us Cilia Biology.

Am J Respir Cell Mol Biol 2019 Oct;61(4):403-404

Department of MedicineWashington University School of MedicineSaint Louis, Missouri.

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http://dx.doi.org/10.1165/rcmb.2019-0103EDDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6775949PMC
October 2019
2 Reads

[A New-born Case of Total Conus Defect and Single Coronary Artery with Situs Inversus Totalis Suspected Kartagener Syndrome].

Kyobu Geka 2019 Mar;72(3):199-203

Department of Cardiac Surgery, The Jikei University School of Medicine, Tokyo, Japan.

We report a new-born case of total conus defect type ventricular septal defect (VSD) and single coronary artery with situs inversus totalis, suspected Kartagener syndrome clinically. After the birth, as the patient had suffered from respiratory distress due to high pulmonary blood flow through the large defect, surgery was planned at age of 14-days after birth. Under median sternotomy and cardiac arrest, patch closure of VSD was performed as ordinary fashion. Read More

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March 2019
6 Reads

Mice with a Deletion of Exhibit a Low Level of Mucociliary Clearance and Develop a Primary Ciliary Dyskinesia Phenotype.

Am J Respir Cell Mol Biol 2019 09;61(3):312-321

Marsico Lung Institute/Cystic Fibrosis Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

Primary ciliary dyskinesia (PCD) is a genetically and phenotypically heterogeneous disease caused by mutations in over 40 different genes. Individuals with PCD caused by mutations in (radial spoke head 1 homolog) have been reported to have a milder phenotype than other individuals with PCD, as evidenced by a lower incidence of neonatal respiratory distress, higher nasal nitric oxide concentrations, and better lung function. To better understand genotype-phenotype relationships in PCD, we have characterized a mutant mouse model with a deletion of . Read More

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http://dx.doi.org/10.1165/rcmb.2017-0387OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6839924PMC
September 2019
2 Reads

[Genetic diagnosis of a case with primary ciliary dyskinesia type 29 by next generation sequencing].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Mar;36(3):225-228

Shandong Provincial Academy of Medical Science, School of Medical and Life Science, University of Ji'nan, Shandong 250022, China.

Objective: To explore the clinical and genetic features of a child with primary ciliary dyskinesia.

Methods: Genomic DNA of the child and her parents was extracted and subjected to targeted gene capture and next generation sequencing. Suspected mutation was verified by Sanger sequencing, with its nature and impact predicted by Bioinformatic analysis. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.03.008DOI Listing
March 2019
22 Reads

Accuracy of High-Speed Video Analysis to Diagnose Primary Ciliary Dyskinesia.

Chest 2019 05 28;155(5):1008-1017. Epub 2019 Feb 28.

Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK; Academic Unit of Clinical and Experimental Medicine, University of Southampton Faculty of Medicine, Southampton, UK. Electronic address:

Background: Diagnosis of primary ciliary dyskinesia (PCD) relies on a combination of tests. High-speed video microscopy analysis (HSVA) is widely used to contribute to the diagnosis. It can be analyzed on the day of diagnostic consultation, but the qualitative analyses are subjective. Read More

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http://dx.doi.org/10.1016/j.chest.2019.01.036DOI Listing
May 2019
1 Read

Primary ciliary dyskinesia among Arabs: Where do we go from here?

Paediatr Respir Rev 2019 Feb 15;29:19-22. Epub 2018 Sep 15.

Medical Research Center, Research Affairs, Hamad Medical Corporation, PO Box 3050, Doha, Qatar; Pediatric Pulmonology, Sidra Medicine, PO Box 2699, Doha, Qatar. Electronic address:

Primary ciliary dyskinesia (PCD), also known as immotile-cilia syndrome, is a rare genetic disease that is inherited in an autosomal recessive manner. Several studies have explored certain aspects of PCD in the Arab world, yet much is still lacking in terms of identifying the different characteristics of this disease. In this paper, we aim to briefly cover those studies published about PCD in Arab countries, as well as to provide recommendations and guidelines for future studies. Read More

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http://dx.doi.org/10.1016/j.prrv.2018.09.002DOI Listing
February 2019
9 Reads
2.196 Impact Factor

The Swiss Primary Ciliary Dyskinesia registry: objectives, methods and first results

Swiss Med Wkly 2019 01 13;149. Epub 2019 Jan 13.

Primary ciliary dyskinesia (PCD) is a rare, hereditary, multiorgan disease caused by defects in the structure and function of motile cilia. It results in a wide range of clinical manifestations, most commonly in the upper and lower airways. Central data collection in national and international registries is essential to studying the epidemiology of rare diseases and filling in gaps in knowledge of diseases such as PCD. Read More

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http://dx.doi.org/10.4414/smw.2019.20004DOI Listing
January 2019
12 Reads

Technical Considerations for Lung Transplantation in Kartagener's Syndrome.

Ann Thorac Surg 2019 05 26;107(5):e337-e339. Epub 2018 Oct 26.

Division of Cardiothoracic Surgery, Department of Surgery, Washington University School of Medicine in St. Louis, St. Louis, Missouri. Electronic address:

Kartagener's syndrome is a rare genetic disorder of ciliated epithelial cells associated with recurrent respiratory tract infections, bronchiectasis, and situs inversus. In some patients, the accumulation of airway secretions and recurrent infections lead to end-stage lung disease, for which lung transplantation is the only effective treatment. Anatomical variations, such as dextrocardia and pulmonary situs inversus, make the procedure challenging, yet feasible with certain technical modifications and careful preparation of donor lungs. Read More

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http://dx.doi.org/10.1016/j.athoracsur.2018.08.095DOI Listing
May 2019
17 Reads

Kartagener syndrome complicated by immunoglobulin A nephropathy.

Int Med Case Rep J 2018 10;11:359-362. Epub 2018 Dec 10.

Division of Nephrology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan,

We herein report the case of a 36-year-old woman with Kartagener syndrome (KS), which is an autosomal recessive disorder defined by a triad of bronchiectasis, sinusitis, and situs inversus, with complications of asymptomatic microhematuria and proteinuria. She was finally diagnosed with biopsy-proven immunoglobulin (Ig) A nephropathy. KS constitutes a subgroup of primary ciliary dyskinesia (PCD) characterized by structural and/or functional ciliary abnormalities resulting in sinopulmonary involvement with varying severity. Read More

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http://dx.doi.org/10.2147/IMCRJ.S185887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292226PMC
December 2018
34 Reads

Automated computed tomographic scoring of lung disease in adults with primary ciliary dyskinesia.

BMC Pulm Med 2018 Dec 18;18(1):194. Epub 2018 Dec 18.

Radiology Department, Groupe Hospitalier Cochin-Hôtel Dieu, AP-HP, Université Paris Descartes - Sorbonne Paris Cité, Paris, France.

Background: The present study aimed to develop an automated computed tomography (CT) score based on the CT quantification of high-attenuating lung structures, in order to provide a quantitative assessment of lung structural abnormalities in patients with Primary Ciliary Dyskinesia (PCD).

Methods: Adult (≥18 years) PCD patients who underwent both chest CT and spirometry within a 6-month period were retrospectively included. Commercially available lung segmentation software was used to isolate the lungs from the mediastinum and chest wall and obtain histograms of lung density. Read More

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https://bmcpulmmed.biomedcentral.com/articles/10.1186/s12890
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http://dx.doi.org/10.1186/s12890-018-0758-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6299576PMC
December 2018
40 Reads
2.721 Impact Factor

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.

Am J Hum Genet 2018 12 21;103(6):995-1008. Epub 2018 Nov 21.

Genome Research Division, Human Genetics Department, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, 6525KL Nijmegen, the Netherlands; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Mathildenstrasse 1, 79112 Freiburg, Germany. Electronic address:

Dysfunction of motile monocilia, altering the leftward flow at the embryonic node essential for determination of left-right body asymmetry, is a major cause of laterality defects. Laterality defects are also often associated with reduced mucociliary clearance caused by defective multiple motile cilia of the airway and are responsible for destructive airway disease. Outer dynein arms (ODAs) are essential for ciliary beat generation, and human respiratory cilia contain different ODA heavy chains (HCs): the panaxonemally distributed γ-HC DNAH5, proximally located β-HC DNAH11 (defining ODA type 1), and the distally localized β-HC DNAH9 (defining ODA type 2). Read More

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http://dx.doi.org/10.1016/j.ajhg.2018.10.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288205PMC
December 2018
79 Reads

Summary for Clinicians: Diagnosis of Primary Ciliary Dyskinesia.

Ann Am Thorac Soc 2019 02;16(2):171-174

8 Division of Pulmonary and Critical Care Medicine, Department of Medicine, Mount Auburn Hospital, Cambridge, Massachusetts; and.

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https://www.atsjournals.org/doi/10.1513/AnnalsATS.201810-693
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http://dx.doi.org/10.1513/AnnalsATS.201810-693CMEDOI Listing
February 2019
41 Reads

A comparative study between adenoids and nasal mucosa for ciliated epithelium in children with recurrent or chronic rhinosinusitis.

Int J Pediatr Otorhinolaryngol 2018 Dec 21;115:94-96. Epub 2018 Sep 21.

Department of Otolaryngology, Georgetown University Hospital, Washington, DC, USA.

Objective: To determine whether adenoid epithelium is superior to nasal mucosa for biopsy of ciliated epithelium for electron microscopy (EM) to evaluate pediatric patients with rhinosinusitis for primary ciliary dyskinesia (PCD).

Methods: A retrospective review compared electron microscopic results in children with chronic or recurrent rhinosinusitis who underwent both adenoidectomy or nasopharyngeal biopsy and nasal mucosa biopsy in the course of evaluation for PCD at a tertiary care institution.

Results: Forty pediatric patients met inclusion criteria for this study. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01655876183047
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http://dx.doi.org/10.1016/j.ijporl.2018.09.018DOI Listing
December 2018
13 Reads

Kartagener syndrome.

QJM 2019 Apr;112(4):297-298

Department of Respiratory and Critical Care Medicine, West China School of Medicine and West China Hospital, Sichuan University, No.37 Guoxue Alley, Chengdu, China.

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http://dx.doi.org/10.1093/qjmed/hcy242DOI Listing
April 2019
5 Reads

Microtubular Dysfunction and Male Infertility.

World J Mens Health 2020 Jan 22;38(1):9-23. Epub 2018 Oct 22.

American Center for Reproductive Medicine, Cleveland Clinic, Cleveland, OH, USA.

Microtubules are the prime component of the cytoskeleton along with microfilaments. Being vital for organelle transport and cellular divisions during spermatogenesis and sperm motility process, microtubules ascertain functional capacity of sperm. Also, microtubule based structures such as axoneme and manchette are crucial for sperm head and tail formation. Read More

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https://wjmh.org/DOIx.php?id=10.5534/wjmh.180066
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http://dx.doi.org/10.5534/wjmh.180066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6920067PMC
January 2020
62 Reads