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Cell Death Dis 2022 Jun 21;13(6):559. Epub 2022 Jun 21.

Department of Pediatric Pulmonology and Immunology, West China Second University Hospital, Sichuan University, Chengdu, China.

Primary cilia dyskinesia (PCD) is a rare genetic disease caused by ciliary structural or functional defects. It causes severe outcomes in patients, including recurrent upper and lower airway infections, progressive lung failure, and randomization of heterotaxy. To date, although 50 genes have been shown to be responsible for PCD, the etiology remains elusive. Read More

Br J Neurosurg 2022 May 17:1-11. Epub 2022 May 17.

Department of Neurosurgery, Cairo University, Cairo, Egypt.

Congenital hydrocephalus affects approximately one in 1000 newborn children and is fatal in approximately 50% of untreated cases. The currently known management protocols usually necessitate multiple interventions and long-term use of healthcare resources due to a relatively high incidence of complications, and many of them mostly provide a treatment of the effect rather than the cause of cerebrospinal fluid flow reduction or outflow obstruction. Future studies discussing etiology specific hydrocephalus alternative treatments are needed. Read More

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2022 Jan;47(1):116-122

Department of Pulmonary and Critical Care Medicine, Second Xiangya Hospital, Central South University, Changsha 410011, China.

Primary ciliary dyskinesia (PCD) is a hereditary disease characterized by airway mucociliary clearance dysfunction. The estimated prevalence of PCD is 1꞉10 000 to 1꞉20 000. The main respiratory manifestations in children are cough, expectoration, chronic rhinitis, sinusitis, and chronic otitis media, while the most common symptoms in adults are chronic sinusitis, bronchiectasis, and infertility. Read More

Eur J Pediatr 2022 May 10. Epub 2022 May 10.

Faculty of Physical Therapy and Rehabilitation, Hacettepe University, Ankara, Turkey.

Primary ciliary dyskinesia (PCD) impairs pulmonary function, respiratory and peripheral muscle strength, and exercise capacity. We aimed to investigate the effects of active video games (AVGs) on pulmonary function, respiratory and peripheral muscle strength, exercise capacity, muscle oxygenation (SMO), physical activity, activities of daily living (ADL), and quality of life (QOL) in PCD. Thirty-two PCD patients were randomly assigned to AVG group (n = 16) and the control group (n = 16). Read More

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2022 Apr;39(4):433-437

Respiratory Medicine Department, Beijing Children' s Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children' s Health, Beijing 100045, China.

Primary ciliary dyskinesia (PCD) is a recessive genetic disorder of motile cilia with substantial genetic and phenotypic heterogeneity. Clinical features of PCD vary from one patient to another, and no single test has the sensitivity and specificity to accurately diagnose PCD. Genetic testing combined with other auxiliary tests can facilitate the confirmatory diagnosis of PCD. Read More

J Card Surg 2022 Jul 11;37(7):2191-2193. Epub 2022 Apr 11.

Department of Cardiothoracic Surgery, Division of Thoracic Surgery, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.

Background: Extracorporeal life support use in redo-lung transplant is limited due to poor outcomes. Extracorporeal circulation with a single duo-lumen cannula provides the advantage of more comfortable mobilization particularly in patients in which we expect a longer bridge to transplant.

Case: A 29-year-old female with Kartagener syndrome and complete situs inversus underwent a double lung transplant for end stage lung disease. Read More

Eur J Case Rep Intern Med 2022 2;9(3):003149. Epub 2022 Mar 2.

Internal Medicine Department, Monmouth Medical Center, Long Branch, NJ, USA.

Venous thromboembolism is a common cause of morbidity and mortality in cancer patients. Given the bleeding risks, determining treatment for malignancy-related thrombosis is challenging, especially in the case of submassive pulmonary embolism (PE) because the risk-benefit ratio in terms of bleeding risk is uncertain. Here we discuss the case of a 53-year-old man with Kartagener syndrome with situs inversus totalis and stage IV non-small cell lung cancer with a recent brain mass resection, presenting with dyspnoea and palpitations. Read More

Acta Otorrinolaringol Esp (Engl Ed) 2022 Mar-Apr;73(2):133-134

Hospital Universitario Virgen de la Victoria, Campus de Teatinos, Málaga, Spain.

Indian J Pediatr 2022 Jul 3;89(7):682-691. Epub 2022 Mar 3.

Department of Medical Biology and Genetics, School of Medicine, Akdeniz University, Antalya, 07070, Turkey.

Objectives: To determine the demographic, clinical, and genetic profile of Turkish Caucasian PCD cases.

Methods: Targeted next-generation sequencing (t-NGS) of 46 nuclear genes was performed in 21 unrelated PCD cases. Sanger sequencing confirmed of potentially disease-related variations, and genotype-phenotype correlations were evaluated. Read More

Andrology 2022 05 15;10(4):720-732. Epub 2022 Mar 15.

Department of Animal Science, Biotechnical Faculty, University of Ljubljana, Domžale, Slovenia, 1230.

Background: Male infertility is a disorder of the reproductive system with a highly complex genetic landscape. In most cases, the reason for male infertility remains unknown; however, the importance of genetic abnormalities in the diagnosis of subfertility/infertility is becoming increasingly recognized. Several syndromes include impaired male fertility in the clinical picture, although a comprehensive analysis of genetic causes of the syndromology perspective of male reproduction is not yet available. Read More

Pediatr Ann 2022 Feb 1;51(2):e82-e85. Epub 2022 Feb 1.

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease with clinical features of ear, sinus, and pulmonary infections that overlap with common respiratory illnesses of childhood. It is a progressive disorder that has significant influence on quality of life, lung function, and survival. Given the considerable overlap of symptoms between common illnesses and PCD, a high index of suspicion by primary care providers is needed to consider the diagnosis. Read More

Sci Rep 2022 02 11;12(1):2375. Epub 2022 Feb 11.

Clinical Tuberculosis and Epidemiology Research Centre, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive condition often presenting with chronic respiratory infections in early life. Transmission electron microscopy (TEM) is used to detect ciliary ultrastructural defects. In this study, we aimed to assess ciliary ultrastructural defects using quantitative methods on TEM to identify its diagnostic role in confirming PCD. Read More

J Vis Exp 2022 01 19(179). Epub 2022 Jan 19.

Department of Pediatrics, Turku University Hospital.

Primary ciliary dyskinesia (PCD) is a congenital disorder predominantly inherited in an autosomal recessive trait. The disorder causes disturbance in the motion of cilia, leading to severe impairment of mucociliary clearance (MCC). If undiagnosed or diagnosed too late, the condition leads to the development of bronchiectasis and serious damage to the lungs in later life. Read More

Pediatr Pulmonol 2022 05 21;57(5):1318-1324. Epub 2022 Feb 21.

Respiratory Medicine, McGill University Health Centre Research Institute, Quebec, Montreal, Canada.

Background: Organ laterality defects in primary ciliary dyskinesia (PCD) are common, ranging from complete mirror image organ arrangement, situs inversus totalis (SIT), to situs ambiguus (SA), which falls along the spectrum of situs solitus (SS) and SIT. Targeted investigations for organ laterality defects are not universally recommended in PCD consensus statements. Without investigations beyond chest radiography (CXR), clinically significant defects may go undetected leading to increased morbidity. Read More

Turk Gogus Kalp Damar Cerrahisi Derg 2021 Oct 20;29(4):549-551. Epub 2021 Oct 20.

Department of Thoracic Surgery, Medicine Faculty of Pamukkale University, Denizli, Turkey.

Kartagener syndrome is a rare condition. A 21-year-old female patient was under follow-up for five years by the chest diseases clinic due to recurrent cough, sputum production and wheezing, and she was diagnosed with Kartagener syndrome. The patient underwent surgery, when her symptoms could not be managed by medical therapy. Read More

Pediatr Pulmonol 2022 04 28;57(4):1072-1075. Epub 2022 Jan 28.

Department of Medicine, Division of Pulmonary and Critical Care Medicine, School of Medicine, Washington University in Saint Louis, St. Louis, Missouri, USA.

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. Read More

J Cardiol Cases 2022 Jan 9;25(1):26-29. Epub 2021 Jul 9.

Cardiology Hospital, Policlinico of Bari, Bari, Italy.

Inadvertent placement of pacemaker and implantable cardioverter-defibrillator (ICD) leads in the left ventricle is a rare but well-recognized complication of device implantation. We report a case of an unicameral ICD lead inadvertently placed through the left subclavian artery right positioned, across the aortic valve into the left ventricle, in a patient with situs viscerum inversus. A transthoracic echocardiogram about a month after the procedure showed an unusual course of the lead. Read More

QJM 2022 05;115(5):319-320

From the Department of Respiratory and Critical Care Medicine, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430014, Hubei, China.

Vaccines (Basel) 2021 Dec 17;9(12). Epub 2021 Dec 17.

Institute of Social and Preventive Medicine, University of Bern, 3012 Bern, Switzerland.

Primary ciliary dyskinesia (PCD) is a rare genetic disease that causes recurrent respiratory infections. People with PCD may be at higher risk of severe coronavirus disease 2019 (COVID-19), and therefore vaccination against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is important. We studied vaccination willingness, speed of vaccination uptake, side effects, and changes in social contact behaviour after vaccination in people with PCD. Read More

Cureus 2021 Nov 5;13(11):e19281. Epub 2021 Nov 5.

Surgery, Hameed Latif Hospital, Lahore, PAK.

Kartagener's syndrome is a rare autosomal recessive disorder characterized by the situs inversus, bronchiectasis, and chronic sinusitis. It is found in about half of the individuals with primary ciliary dyskinesia, a disorder of dynein arms in the cilia which renders the mucociliary apparatus inefficient. One of the manifestations of this disorder is the inability to clear secretions from the respiratory pathway leading to recurrent infections and their complications. Read More

J Chest Surg 2022 Feb;55(1):77-80

Department of Thoracic and Cardiovascular Surgery, Pusan National University Yangsan Hospital, Medical Research Institute of Pusan National University, Yangsan, Korea.

Kartagener syndrome (KS) is a rare disease with an incidence of 1 in 20,000 to 30,000 births. There is no cure for KS, and conservative medical treatments are used to relieve symptoms and prevent disease progression. Lung transplantation (LT) is the only treatment option for end-stage KS. Read More

Respirology 2021 11;26 Suppl 3:95-96

J Paediatr Child Health 2022 04 16;58(4):683-686. Epub 2021 Nov 16.

Infection and Immunity, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

Aim: Establishing the underlying cause in a child with chronic suppurative lung disease (CSLD) allows for targeted treatment and screening for associated complications. One cause of CSLD is primary ciliary dyskinesia (PCD). Testing for PCD requires specialist expertise which is not widely available. Read More

Rev Esp Anestesiol Reanim (Engl Ed) 2021 Nov 4;68(9):537-541. Epub 2021 Nov 4.

Servicio de Anestesiología y Reanimación, Hospital Clínico Universitario de Valladolid, Valladolid, Spain.

Kartagener's syndrome (KS) is a rare genetic disease characterised by the triad of sinusitis, bronchiectasis, and situs inversus. This syndrome is associated with an increased risk of respiratory complications. Therefore, both the anaesthetic technique and the agents used must be carefully chosen according to the type of intervention and the patient's baseline condition. Read More

Eur Respir J 2022 01 13;59(1). Epub 2022 Jan 13.

Centre Hospitalier Intercommunal de Créteil, Service de Pédiatrie Générale, Créteil, France.

Pediatr Pulmonol 2022 01 1;57(1):231-238. Epub 2021 Oct 1.

Division of Respiratory Medicine & Children's Research Centre, University Children's Hospital Zurich.

Background: Nasal nitric oxide (nNO) measurement is recommended as a first line screening test for primary ciliary dyskinesia (PCD). While reliable velum- and non-velum-closure techniques exist for preschool children and older individuals, no data are available for neonates.

Aims: To determine feasibility of nNO screening and nNO concentration in healthy newborns in the first week of life. Read More

Cureus 2021 Aug 13;13(8):e17155. Epub 2021 Aug 13.

Department of Surgery, College of Medicine, Najran University, Najran, SAU.

Laparoscopic sleeve gastrectomy (LSG) is a widely accepted and adopted procedure to achieves weight loss in morbid obesity. Situs inversus (SI) is when the body's visceral organs are not in the normal position with reversal of anatomical orientation. Patients with obesity and SI can be challenging to diagnose and manage. Read More

Pediatr Pulmonol 2021 12 2;56(12):4045-4047. Epub 2021 Sep 2.

Department of Pediatrics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

Auris Nasus Larynx 2022 Apr 26;49(2):248-257. Epub 2021 Aug 26.

Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Tsu, Mie, Japan. Electronic address:

Objective: Primary ciliary dyskinesia (PCD) is a rare hereditary disease. Most reports of PCD in Japan are case reports, and clinical analysis has not been performed. Differences in the causative genes might affect the clinical features in different ethnic groups. Read More

Cells 2021 07 25;10(8). Epub 2021 Jul 25.

Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Mathildenstrasse 1, 79106 Freiburg, Germany.

Although ubiquitously present, the relevance of cilia for vertebrate development and health has long been underrated. However, the aberration or dysfunction of ciliary structures or components results in a large heterogeneous group of disorders in mammals, termed ciliopathies. The majority of human ciliopathy cases are caused by malfunction of the ciliary dynein motor activity, powering retrograde intraflagellar transport (enabled by the cytoplasmic dynein-2 complex) or axonemal movement (axonemal dynein complexes). Read More