scholarly journals Kartagener syndrome

2021 ◽  
Author(s):  
Henry Knipe ◽  
Hani Salam
Keyword(s):  
Kartagener Syndrome

scholarly journals Anatomical variants of pulmonary segments and uni-portal thoracoscopic segmentectomy for lung cancer in a patient with Kartagener syndrome: a case report

2021 ◽  
Author(s):  
Di Zhou ◽  
Ye Tian ◽  
Yao Lu ◽  
Xueying Yang
Keyword(s):  
Lung Cancer ◽  
Rare Variants ◽  
Sagittal Plane ◽  
Early Stage ◽  
Situs Inversus Totalis ◽  
Middle Lobe ◽  
The Body ◽  
Kartagener Syndrome ◽  
Early Stage Lung Cancer ◽  
Cancer Lesion

AbstractSitus inversus totalis (SIT) is an extremely uncommon congenital disease where the major organs of the body are transposed through the sagittal plane. Kartagener syndrome is a complication of SIT with immotility of bronchial cilia, bronchiectasis, and chronic sinusitis. There is no report describing patients with Kartagener syndrome who accept uni-portal segmentectomies for lung cancer in past studies. Here we report a 74-year-old female patient with both Kartagener syndrome and a small early-stage lung cancer lesion located in the apical segment of the left upper lobe (LS1). The pulmonary segment anatomy of the left upper lobe in this case, which had very rare variants, was presented and interpreted in detail. This patient underwent an anatomic segmentectomy to the LS1 and a partial excision to the left middle lobe with bronchiectasis through a single 3 cm length incision. We believe that the case can give surgeons some experience and inspiration.

Ciliary Pathology: Immotile Cilia Syndrome and Kartagener Syndrome

2010 ◽  
pp. 246-247
Author(s):  
Margit Pavelka ◽  
Jürgen Roth
Keyword(s):  
Kartagener Syndrome ◽  
Immotile Cilia Syndrome ◽  
Immotile Cilia

scholarly journals KARTAGENER SYNDROME: AN UNUSUAL CONDITION WITH NUMEROUS DIFFICULT OPTIONS : CASE REPORT AND REVIEW OF LITERATURE

2019 ◽  
Vol 39 (6) ◽  
pp. 39-43
Author(s):  
Gulnoza Amonillayevna Yusupova ◽  
Shaxnoza Akbarbekovna Latipova
Keyword(s):  
Case Report ◽  
Review Of Literature ◽  
Kartagener Syndrome ◽  
Unusual Condition

scholarly journals Clinical and Genetic Analysis of Children with Kartagener Syndrome

Cells ◽  
2019 ◽  
Vol 8 (8) ◽  
pp. 900 ◽  
Author(s):  
Rute Pereira ◽  
Telma Barbosa ◽  
Luís Gales ◽  
Elsa Oliveira ◽  
Rosário Santos ◽  
...  
Keyword(s):  
Autosomal Recessive Disorder ◽  
Kartagener Syndrome ◽  
Mucus Clearance ◽  
Pathogenic Variants ◽  
Transmission Electron ◽  
Whole Exome ◽  
Dynein Arms ◽  
Organ Laterality ◽  
Ciliary Dyskinesia ◽  
Laterality Defects

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 situs inversus). Patient-1 showed a predominance of the absence of the inner dynein arms with two disease-causing variants in the CCDC40 gene. Patient-2 showed the absence of both dynein arms and WES disclosed two novel high impact variants in the DNAH5 gene and two missense variants in the DNAH7 gene, all possibly deleterious. Moreover, in Patient-2, functional data revealed a reduction of gene expression and protein mislocalization in both genes’ products. Our work calls the researcher’s attention to the complexity of the PCD and to the possibility of gene interactions modelling the PCD phenotype. Further, it is demonstrated that even for well-known PCD genes, novel pathogenic variants could have importance for a PCD/KS diagnosis, reinforcing the difficulty of providing genetic counselling and prenatal diagnosis to families.

scholarly journals PO-0381 Kartagener Syndrome Associated To Nephropathy: A Broader Spectrum Of Ciliopathy?

2014 ◽  
Vol 99 (Suppl 2) ◽  
pp. A370.1-A370
Author(s):  
E Veiga ◽  
A Veiga ◽  
J Llerena Junior ◽  
C Serao ◽  
C Mochdece ◽  
...  
Keyword(s):  
Kartagener Syndrome

Deficiency of creatine kinase in a ST-segment elevation myocardial infarction patient with Kartagener syndrome

2015 ◽  
Vol 182 ◽  
pp. 31-33
Author(s):  
Takehiro Hashikata ◽  
Taiki Tojo ◽  
Sayaka Namba ◽  
Lisa Kitasato ◽  
Takuya Hashimoto ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Creatine Kinase ◽  
Kartagener Syndrome ◽  
St Segment Elevation ◽  
Segment Elevation Myocardial Infarction ◽  
Myocardial Infarction Patient ◽  
St Segment

Kartagener syndrome: an uncommon cause of neonatal respiratory distress?

1995 ◽  
Vol 154 (3) ◽  
pp. 236-238 ◽  
Author(s):  
M. Losa ◽  
D. Ghelfi ◽  
E. Hof ◽  
H. Felix ◽  
S. Fanconi
Keyword(s):  
Respiratory Distress ◽  
Kartagener Syndrome ◽  
Neonatal Respiratory Distress

Kartagener syndrome: An unusual cause of respiratory distress in the newborn

2007 ◽  
Vol 15 (4) ◽  
Author(s):  
RO Ugwu ◽  
AU Eneh ◽  
BE Otaigbe
Keyword(s):  
Respiratory Distress ◽  
Kartagener Syndrome
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