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Full Text Journal Articles about
Kartagener Syndrome

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Acute Appendicitis in Patients with Kartagener Syndrome.

Pedro Nogarotto Cembraneli, Gabriel Ambrogi, Julia Brasileiro de Faria Cavalcante, Raphael Raphe, Rafael Luís Luporini,

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 ... Read more >>

Case Rep Surg (Case reports in surgery)
[2020, 2020:8716474]

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The genetics of situs inversus without primary ciliary dyskinesia.

Merel C Postema, Amaia Carrion-Castillo, Simon E Fisher, Guy Vingerhoets, Clyde Francks,

Situs inversus (SI), a left-right mirror reversal of the visceral organs, can occur with recessive Primary Ciliary Dyskinesia (PCD). However, most people with SI do not have PCD, and the etiology of their condition remains poorly studied. We sequenced the genomes of 15 people with SI, of which six had ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):3677]

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

Adam J Shapiro, Sharon D Dell, Benjamin Gaston, Michael O'Connor, Nadzeya Marozkina, Michele Manion, Milan J Hazucha, Margaret W Leigh,

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 ... Read more >>

Ann Am Thorac Soc (Annals of the American Thoracic Society)
[2020, 17(2):e1-e12]

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

Rute Pereira, Telma Barbosa, Ângela Alves, Rosário Santos, Jorge Oliveira, Mário Sousa,

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). Nevertheless, ... Read more >>

Adv Med Sci (Advances in medical sciences)
[2019, 65(1):1-11]

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Hand-assisted laparoscopic radical nephrectomy for renal cell carcinoma in a patient with situs inversus totalis.

Eric M Chevli, Tyler J Maiers, David J Abramowitz, Shervin Badkhshan, John J Bodkin,

Situs inversus totalis (SIT) is a rare condition with left-right mirror imaging of both abdominal and thoracic organs. While this configuration is rarely of medical importance, an understanding of this unique anatomy is essential in the setting of surgical intervention. Here we review a case of renal cell carcinoma (RCC) ... Read more >>

Urol Case Rep (Urology case reports)
[2020, 28:101076]

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MIP-T3 Expression Associated with Defects of Ciliogenesis in Airway of COPD Patients.

Wen-Jun Wang, Shi-Fang Yang, Zhi-Rui Gao, Ze-Ru Luo, Yuan-Ling Liu, Xing-Lin Gao,

Introduction. Some studies have found that cilia were shorter in COPD smokers than in nonsmokers or healthy smokers. However, the structural abnormalities of cilia and the cause of such abnormalities in COPD patients still remain unknown. Tumor necrosis factor alpha receptor 3 interacting protein 1 (MIP-T3) may play an important ... Read more >>

Can. Respir. J. (Canadian respiratory journal)
[2020, 2020:1350872]

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Prevalence and incidence of bronchiectasis in Italy.

Stefano Aliberti, Giovanni Sotgiu, Francesco Lapi, Andrea Gramegna, Claudio Cricelli, Francesco Blasi,

BACKGROUND:The understanding of the epidemiology of bronchiectasis is still affected by major limitations with very few data published worldwide. The aim of this study was to estimate the epidemiological burden of bronchiectasis in Italy in the adult population followed-up by primary care physicians. METHODS:This study analyzed data coming from a ... Read more >>

BMC Pulm Med (BMC pulmonary medicine)
[2020, 20(1):15]

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Incidental Finding of Dextrocardia with Situs Inversus in a 59-Year-Old Man.

Emmanuel Kobina Mesi Edzie, Klenam Dzefi-Tettey, Obed Cudjoe, Philip Narteh Gorleku, Patrick Adu,

Dextrocardia with situs inversus is a rare congenital anomaly, which is characterized by right-sided heart apex and inversely rotated visceral organs of the abdomen. We report an unusual case of dextrocardia with situs inversus in a 59-year-old man, referred for a pelvic ultrasound scan because of symptoms of lower urinary ... Read more >>

Case Rep Radiol (Case reports in radiology)
[2019, 2019:7107293]

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

Yongjian Yue, Qijun Huang, Peng Zhu, Pan Zhao, Xinjuan Tan, Shengguo Liu, Shulin Li, Xuemei Han, Linling Cheng, Bo Li, Yingyun Fu,

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 ... Read more >>

Front Genet (Frontiers in Genetics)
[2019, 10:749]

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[Repeated respiratory infections in a patient with Kartagener's Syndrome].

Nieves Parras García de León, Lirios Sacristán Bou, Isabel Ordoñez Dios, Elena García Carreño,

Rev Esp Geriatr Gerontol (Revista espanola de geriatria y gerontologia)
[2020, 55(1):54-55]

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

Amadou Doumbia, Youssouf Koné, Abdoulaye Koné, Oumou Maïga, Adama Dembélé,

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 >>

Pan Afr Med J (The Pan African medical journal)
[2019, 33:316]

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Agenesis of the dorsal pancreas presenting with diabetic ketoacidosis - a case report and literature review.

Tian Yang, Xudan Yang, Luping Wang, Jun Mo,

BACKGROUND:Agenesis of the dorsal pancreas (ADP) is clinically rare, and it is usually accompanied by abdominal pain. Various disorders of glucose metabolism associating with ADP have been reported, but there are only two studies reporting a correlation between ADP and DKA in English literature. CASE PRESENTATION:We present a case of ... Read more >>

BMC Endocr Disord (BMC endocrine disorders)
[2019, 19(1):120]

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ECG Diagnosis: Dextrocardia.

Cameron Mozayan, Joel T Levis,

Perm J (The Permanente journal)
[2019, 23:]

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

Angela Burvill, Ruth Blackham, Jeffrey Hamdorf,

Kartagener syndrome is a rare autosomal recessive condition. Approximately 25% of those with situs inversus totalis suffer the syndrome. With the rising overall number and indications for bariatric surgery, this condition will be increasingly recognised. We present a case of a 25-year-old woman with SIT and Kartagener syndrome who underwent ... Read more >>

BMJ Case Rep (BMJ case reports)
[2019, 12(7):]

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

Moritz Schumann, Nils Freitag, Eva Haag, Wilhelm Bloch,

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 ... Read more >>

Respir Med Case Rep (Respiratory medicine case reports)
[2019, 28:100925]

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

Akihiro Shiroshita, Wataru Uegami, Ayumu Otsuki, Kei Nakashima, Keishin Sunagawa, Junya Fukuoka, Shota Kami, Ayumi Saito, Masahiro Aoshima,

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. Computed tomography with ... Read more >>

Oxf Med Case Reports (Oxford medical case reports)
[2019, 2019(8):]

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Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1-4 of DRC1 in Japanese patients with recurrent sinopulmonary infection.

Naoto Keicho, Minako Hijikata, Kozo Morimoto, Sakae Homma, Yoshio Taguchi, Arata Azuma, Shoji Kudoh,

BACKGROUND:Diffuse panbronchiolitis (DPB) is a sinopulmonary disease mainly affecting Asian populations. Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder impairing ciliary structure and function. These two disorders are not easily distinguished by clinical signs and symptoms. METHODS:In 105 Japanese patients with recurrent sinopulmonary infection, initially diagnosed with DPB, and ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2020, 8(1):e1033]

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Sputum Exosomal microRNAs Profiling Reveals Critical Pathways Modulated By Pseudomonas aeruginosa Colonization In Bronchiectasis.

Yan Huang, Chun-Lan Chen, Jing-Jing Yuan, Hui-Min Li, Xiao-Rong Han, Rong-Chang Chen, Wei-Jie Guan, Nan-Shan Zhong,

Background:Pseudomonas aeruginosa (PA) colonization confers poor prognosis in bronchiectasis. However, the biomarkers and biological pathways underlying these associations are unclear. Objective:To identify the roles of PA colonization in bronchiectasis by exploring for sputum exosomal microRNA profiles. Methods:We enrolled 98 patients with clinically stable bronchiectasis and 17 healthy subjects. Sputum was ... Read more >>

Int J Chron Obstruct Pulmon Dis (International Journal of Chronic Obstructive Pulmonary Disease)
[2019, 14:2563-2573]

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

Atsushi Inaba, Masanori Furuhata, Kozo Morimoto, Mahbubur Rahman, Osamu Takahashi, Minako Hijikata, Michael R Knowles, Naoto Keicho,

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 ... Read more >>

BMC Pulm Med (BMC pulmonary medicine)
[2019, 19(1):135]

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Mice with a Deletion of Rsph1 Exhibit a Low Level of Mucociliary Clearance and Develop a Primary Ciliary Dyskinesia Phenotype.

Weining Yin, Alessandra Livraghi-Butrico, Patrick R Sears, Troy D Rogers, Kimberlie A Burns, Barbara R Grubb, Lawrence E Ostrowski,

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 RSPH1 (radial spoke head 1 homolog) have been reported to have a milder phenotype than other individuals with PCD, as evidenced by a lower ... Read more >>

Am. J. Respir. Cell Mol. Biol. (American journal of respiratory cell and molecular biology)
[2019, 61(3):312-321]

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Aerobic exercise training in Kartagener's syndrome: case report.

Aslihan Cakmak, Deniz Inal-Ince, Hazal Sonbahar-Ulu, Cemile Bozdemir-Ozel, Haluk Tekerlek, Melda Saglam, Ebru Calik-Kutukcu, Naciye Vardar-Yagli, Elmas Ebru Yalcin, Ugur Ozcelik, Hulya Arikan,

Kartagener's syndrome is a rare, autosomal recessive inherited disease, which is characterized by a triad of chronic sinusitis, bronchiectasis, and situs inversus. In this report, we aimed to represent the effect of aerobic exercise training in addition to chest physiotherapy in an outpatient with Kartagener's syndrome. An 18-year-old female diagnosed ... Read more >>

J Exerc Rehabil (Journal of exercise rehabilitation)
[2019, 15(3):468-471]

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

Rahma Mani, Sabrina Belkacem, Zohra Soua, Sandra Chantot, Guy Montantin, Sylvie Tissier, Bruno Copin, Jihene Bouguila, Nicolas Rive Le Gouard, Lamia Boughamoura, Salma Ben Ameur, Mongia Hachicha, Raoudha Boussoffara, Khadija Boussetta, Samia Hammouda, Abir Bedoui, Habib Besbes, Seif Meddeb, Karima Chraeit, Monia Khlifa, Estelle Escudier, Serge Amselem, Imed Mabrouk, Marie Legendre,

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. Forty clinically diagnosed ... Read more >>

Hum. Mutat. (Human mutation)
[2020, 41(1):115-121]

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Thoracoscopic segmentectomy assisted by three-dimensional computed tomography bronchography and angiography for lung cancer in a patient living with situs inversus totalis: A case report.

Yun-Jiang Wu, Yang Bao, Ya-Li Wang,

BACKGROUND:Situs inversus totalis (SIT) is a rare congenital condition that is characterized by a complete mirror image of the typical arrangement of the thoracic and abdominal viscera. Performing thoracoscopic segmentectomy for a patient with lung cancer and SIT is an extremely skilled and challenging surgical procedure. CASE SUMMARY:A 41-year old ... Read more >>

World J Clin Cases (World journal of clinical cases)
[2019, 7(22):3844-3850]

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

Ma Del Rocío Pérez Crespo, Mercedes Fariñas Salto, Rocío Chacón Aguilar, Adriana Navas Carretero, Eva Sanavia Morán, Salomé Albi Rodríguez, Begoña Pérez-Moneo Agapito,

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 ... Read more >>

Arch Argent Pediatr (Archivos argentinos de pediatria)
[2019, 117(3):e292-e296]

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Twenty-year Follow-up of the First Bilateral Living-donor Lobar Lung Transplantation in Japan.

Masamichi Komatsu, Hiroshi Yamamoto, Toshitaka Shomura, Kei Sonehara, Takashi Ichiyama, Kazuhisa Urushihata, Atsuhito Ushiki, Masanori Yasuo, Toshihide Wakamatsu, Seiichiro Sugimoto, Takahiro Oto, Hiroshi Date, Tomonobu Koizumi, Masayuki Hanaoka, Keishi Kubo,

Patients with end-stage lung disease can undergo living-donor lobar lung transplantation (LDLLT), with survival rates improving every year. We herein report the 20-year follow-up findings of the first patient who underwent LDLLT in Japan. A 24-year-old woman with primary ciliary dyskinesia became ventilator-dependent after severe respiratory failure and right-sided heart ... Read more >>

Intern. Med. (Internal medicine (Tokyo, Japan))
[2019, 58(21):3133-3137]

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