The EZ-Blocker® for one-lung ventilation in a patient with Kartagener syndrome and tracheal bronchus -a case report.

BACKGROUND: The tracheal bronchus in Kartagener syndrome is a rare case that may cause difficulty in one-lung ventilation (OLV). Here we reported a case of successful OLV using bronchial blocker in a patient with tracheal bronchus and Kartagener syndrome (KS). CASE: A 66-year-old female patient with Kartagener syndrome was admitted for left-side diaphragmatic plication. The patient's preoperative computed tomography image showed a tracheal bronchus of the apical segment in the right upper lobe. The patient received epidural analgesia and general anesthesia through total intravenous anesthesia. An EZ-Blocker® (Teleflex Life Sciences Ltd., Ireland) was used to perform OLV. CONCLUSIONS: OLV through an EZ-Blocker® can be successfully performed in tracheal bronchus patients with Kartagener syndrome without side effects.

Going beyond the chest X-ray: Investigating laterality defects in primary ciliary dyskinesia.

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. We hypothesize that clinically significant SA defects remain undetected on CXR and targeted investigations are needed to detect various laterality defects associated with morbidity. METHODS: This retrospective study collected data from PCD clinics at two Canadian children's hospitals from 2012 to 2020. Participants <30 years old with a confirmed or clinical diagnosis of PCD were enrolled. CXR images were reviewed, and reports of other targeted investigations, including chest computed tomography, abdominal ultrasound, echocardiogram, upper gastrointestinal series, and splenic function studies, were extracted from medical records. Situs classifications from CXR alone versus CXR with add-on targeted investigations were compared using Cochran's q and McNemar tests. RESULTS: One hundred and fifty-nine PCD patients were included, median age at PCD diagnosis of 6.1 years (range: 0-28). The situs classification differed significantly from CXR images alone versus CXR with add-on targeted investigations (p < 0.001); SS 88 (55%) versus 75 (47%), SIT 59 (37%) versus 46 (29%), and SA 12 (8%) versus 38 (24%). Identified SA defects were cardiovascular (21, 13%), intestinal (9, 6%), and/or splenic (16,10%). CONCLUSIONS: In PCD patients, clinically significant SA defects may not be detected by CXR alone. Our results suggest that the routine use of CXR with add-on targeted investigations may be justified.

Fissure adjacent partial lobe atelectasis in primary ciliary dyskinesia.

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. Computed tomography (CT) scans are commonly performed when assessing CSLD. Identifying PCD-specific signs on CT would help clinicians in deciding when to refer for specialist testing. One potential PCD-specific sign we have observed is fissure adjacent partial lobe atelectasis (FAPLA). We aimed to assess if FAPLA is commonly found in CT of PCD patients. METHODS: Fifty-eight CT scans from 42 adult and child PCD patients were analysed. The presence and distribution of FAPLA were noted, and its association to sputum culture and other signs commonly seen in CSLD (bronchiectasis, bronchial wall thickening, air trapping and mucus plugging). RESULTS: FAPLA was found in 13 of 40 participants in their earliest CT scan. The prevalence of FAPLA was similar in children and adults. FAPLA involved the right middle lobe in all 13 cases and was systematically associated with ≥1 other structural change. There was no association between FAPLA and bacterial isolation from sputum. CONCLUSION: FAPLA was found in 32.5% PCD scans, without difference between children and adults in terms of frequency. Future work will determine if it is a PCD-specific sign by assessing whether it is also found in other CSLD processes and analysing more scans from children with PCD to determine how early this sign develops.

Colecistectomía robótica en situs inversus totalis / Robotic cholecystectomy in situs inversus totalis

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Infecciones respiratorias de repetición en una paciente con Síndrome de Kartagener / Repeated respiratory infections in a patient with Kartagener's Syndrome

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

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. CT-density scores were calculated using fixed and adapted thresholds based on various combinations of histogram characteristics, such as mean lung density (MLD), skewness, and standard deviation (SD). Additionally, visual scoring using the Bhalla score was performed by 2 independent radiologists. Correlations between CT scores, forced expiratory volume in 1 s (FEV1) and forced vital capacity (FVC) were evaluated. RESULTS: Sixty-two adult patients with PCD were included. Of all histogram characteristics, those showing good positive or negative correlations to both FEV1 and FVC were SD (R = - 0.63 and - 0.67; p < 0.001) and Skewness (R = 0.67 and 0.67; p < 0.001). Among all evaluated thresholds, the CT-density score based on MLD + 1SD provided the best negative correlation with both FEV1 (R = - 0.68; p < 0.001) and FVC (R = - 0.71; p < 0.001), close to the correlations of the visual score (R = - 0.60; p < 0.001 for FEV1 and R = - 0.62; p < 0.001, for FVC). CONCLUSIONS: Automated CT scoring of lung structural abnormalities lung in primary ciliary dyskinesia is feasible and may prove useful for evaluation of disease severity in the clinic and in clinical trials.

Síndrome de Kartagener, importancia de detectar la tríada diagnóstica característica / Kartagener syndrome, the importance of detecting the characteristic diagnostic triad

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Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient.

Primary ciliary dyskinesia (PCD) is a clinical rare peculiar disorder, mainly featured by respiratory infection, tympanitis, nasosinusitis, and male infertility. Previous study demonstrated it is an autosomal recessive disease and by 2017 almost 40 pathologic genes have been identified. Among them are the leucine-rich repeat- (LRR-) containing 6 (LRRC6) codes for a 463-amino-acid cytoplasmic protein, expressed distinctively in motile cilia cells, including the testis cells and the respiratory epithelial cells. In this study, we applied whole-exome sequencing combined with PCD-known genes filtering to explore the genetic lesion of a PCD patient. A novel compound heterozygous mutation in LRRC6 (c.183T>G/p.N61K; c.179-1G>A) was identified and coseparated in this family. The missense mutation (c.183T>G/p.N61K) may lead to a substitution of asparagine by lysine at position 61 in exon 3 of LRRC6. The splice site mutation (c.179-1G>A) may cause a premature stop codon in exon 4 and decrease the mRNA levels of LRRC6. Both mutations were not present in our 200 local controls, dbSNP, and 1000 genomes. Three bioinformatics programs also predicted that both mutations are deleterious. Our study not only further supported the importance of LRRC6 in PCD, but also expanded the spectrum of LRRC6 mutations and will contribute to the genetic diagnosis and counseling of PCD patients.

Actualización en discinesia ciliar primaria: manejo actual y perspectivas de futuro / Primary cliary dyskinesia: current management and future perspectives

La discinesia ciliar primaria (DCP) es una enfermedad rara, heterogénea desde el punto de vista clínico, que se transmite con una herencia principalmente autosómica recesiva y se engloba dentro de los trastornos de la motilidad ciliar. Es causa de patología tanto a nivel de las vías respiratorias superiores como inferiores -que comienza en el primer año de vida y evoluciona a un daño pulmonar progresivo-, infertilidad y alteraciones de la posición de los órganos internos. El propósito de esta revisión es proporcionar una actualización sobre las manifestaciones clínicas, diagnóstico y tratamiento de la DCP para que exista un mayor nivel de alerta sobre esta enfermedad e incidir en la necesidad de crear registros de pacientes que nos hagan entender mejor la fisiopatología y progresión de la enfermedad (AU)

Primary ciliary dyskinesia (PCD) is a rare and heterogeneous from the clinical point of view disease, mostly autosomal recessive inherited, characterized by motile ciliary dysfunction. It causes chronic upper and lower respiratory tract disease, starting in the first year of life and resulting in progressive lung damage, infertility and situs anomalies. The aim of this review is to provide an update on the diagnosis and treatment of PCD to increase the clinicia's awareness of this disorder and high-light the need to create patient registries that give us a better understanding of the physiopathology and disease's progression

Clinical impact of Pseudomonas aeruginosa colonization in patients with Primary Ciliary Dyskinesia.

BACKGROUND: Airway infections in Primary Ciliary Dyskinesia (PCD) are caused by different microorganisms, including pseudomonas aeruginosa (PA). The aim of this study was to investigate the association of PA colonization and the progression of lung disease in PCD. METHODS: Data from 11PCD centers were retrospectively collected from 2008 to 2013. Patients were considered colonized if PA grew on at least two separate sputum cultures; otherwise, they were classified as non-colonized. These two groups were compared on the lung function computed tomography (CT) Brody score and other clinical parameters. RESULTS: Data were available from 217 patients; 60 (27.6%) of whom were assigned to the colonized group. Patients colonized with PA were older and were diagnosed at a later age. Baseline forced expiratory volume at 1 s (FEV1) was lower in the colonized group (72.4 ± 22.0 vs. 80.1 ± 18.9, % predicted, p = 0.015), but FEV1 declined throughout the study period was similar in both groups. The colonized group had significantly worse CT-Brody scores (36.07 ± 24.38 vs. 25.56 ± 24.2, p = 0.034). A subgroup analysis with more stringent definitions of colonization revealed similar results. CONCLUSIONS: Lung PA colonization in PCD is associated with more severe disease as shown by the FEV1 and CT score. However, the magnitude of decline in pulmonary function was similar in colonized and non-colonized PCD patients.

Síndrome de Kartagener: reporte de caso / Kartagener syndrome: case report

El Síndrome de Kartagener es una enfermedad autosómica recesiva, caracterizada por discinesia ciliar primaria la cual consiste en la disfunción de las células ciliadas. Esta es la causa de la manifestación de la sintomatología respiratoria que presenta este síndrome: tos, sinusitis, otitis media y bronquiectasias. Otra sintomatología que acompaña a este síndrome son infertilidad y situs inversus. El reconocimiento de esta enfermedad data desde los principios del siglo XX y se constituye en síndrome gracias a la descripción de 4 casos clínicos, por Manes Kartagener, neumólogo que trabajaba en Zurich, quien describió por primera vez en 1933 la triada característica de este síndrome: sinusitis crónica, bronquiectasias y situs inversus. Paciente femenina de 35 años con antecedentes de infecciones del tracto respiratorio superior e inferior a repetición desde la infancia, se presenta a la emergencia del Hospital Mario Catarino Rivas con un episodio infeccioso grave de las vías respiratorias. Durante su estadía hospitalaria se confirma dextrocardia y situs inversus por medio de estudios radiológicos por lo que se confirma el diagnostico de Sindrome de Kartagener. El síndrome de Kartagener que se caracteriza por la triada clásica de sinusitis crónica, bronquiectasias y situs inversus. En el curso de su presentación clínica se espera encontrar infecciones a repetición del tracto respiratorio superior e inferior, gracias al compromiso de la movilidad ciliar normalmente encargada de la remoción de patógenos ambientales, a largo plazo se espera el desarrollo de las dilataciones bronquiales a consecuencia del cúmulo de material mucoide y la reacción inflamatoria local.

Kartagener's syndrome is an autosomal recessive disease, characterized by primary ciliary dyskinesia, which consists of ciliated cell dysfunction. This is the cause of the manifestation of the respiratory symptomatology that presents this syndrome-cough, sinusitis, and bronchiectasis. Another symptomatology that accompanies this syndrome are infertility and situs inversus. Its recognition from the early XX century, and constitutes syndrome thanks to the description of 4 clinical cases by Manes Kartagener, a pulmonologist who worked in Zurich and first described the triad of sinusitis, bronchiectasis and situs inversus in 1933. A 35-year-old female patient with a history of dextrocardia, repeated respiratory infections, and inadequate response to previous treatments, is presented to the Emergency Hospital Mario Catarino Rivas. Kartagener syndrome characterized by the classic triad of chronic sinusitis, bronchiectasis and situs inversus. During clinical presentation expect to find recurring upper and lower respiratory tract, thanks to the commitment of mobility infections ciliciar normally responsible for the removal of environmental pathogens, expected long-term development of bronchial dilation because of accumulation of mucoid material and local inflammatory reaction.

Scoliosis convexity and organ anatomy are related.

PURPOSE: Primary ciliary dyskinesia (PCD) is a respiratory syndrome in which 'random' organ orientation can occur; with approximately 46% of patients developing situs inversus totalis at organogenesis. The aim of this study was to explore the relationship between organ anatomy and curve convexity by studying the prevalence and convexity of idiopathic scoliosis in PCD patients with and without situs inversus. METHODS: Chest radiographs of PCD patients were systematically screened for existence of significant lateral spinal deviation using the Cobb angle. Positive values represented right-sided convexity. Curve convexity and Cobb angles were compared between PCD patients with situs inversus and normal anatomy. RESULTS: A total of 198 PCD patients were screened. The prevalence of scoliosis (Cobb >10°) and significant spinal asymmetry (Cobb 5-10°) was 8 and 23%, respectively. Curve convexity and Cobb angle were significantly different within both groups between situs inversus patients and patients with normal anatomy (P ≤ 0.009). Moreover, curve convexity correlated significantly with organ orientation (P < 0.001; ϕ = 0.882): In 16 PCD patients with scoliosis (8 situs inversus and 8 normal anatomy), except for one case, matching of curve convexity and orientation of organ anatomy was observed: convexity of the curve was opposite to organ orientation. CONCLUSIONS: This study supports our hypothesis on the correlation between organ anatomy and curve convexity in scoliosis: the convexity of the thoracic curve is predominantly to the right in PCD patients that were 'randomized' to normal organ anatomy and to the left in patients with situs inversus totalis.

[Kartagener syndrome--case report]. / Zespól Kartagenera--opis przypadku.

INTRODUCTION: Kartagener syndrome is a very rare, congenital, cilia-related disease comprising a triad of bronchiectasis, sinusitis and situs inversus. It is diagnosed in about 50% patients with primary ciliary dyskinesia (PCD). CASE REPORT: The authors report a case of a 72-year old female patient with a history of chronic cough and expectoration of muco-purulent secretion. An X-Ray examination in Posterior-Anterior projection revealed an abnormal configuration of chest's organs. Diagnosis was complemented with Computed Tomography (CT) of chest and paranasal sinuses and laboratory tests as well. Compilation of clinical symptoms and test results led to the diagnosis of Kartagener syndrome. CONCLUSION: This case report shows the usefulness of diagnostic imaging in the diagnostic process of Kartagener syndrome, as well as during subsequent monitoring of the disease.