The Experts below are selected from a list of 1983 Experts worldwide ranked by ideXlab platform
Sergio Fanconi - One of the best experts on this subject based on the ideXlab platform.
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Kartagener Syndrome an uncommon cause of neonatal respiratory distress
European Journal of Pediatrics, 1995Co-Authors: Massimo Losa, Daniela Ghelfi, Eran Hof, H. Felix, Sergio FanconiAbstract:We report a newborn with respiratory distress and situs inversus totalis. The diagnosis of primary ciliary dyskinesia was confirmed by both ultrastructural and functional investigations. The immotile cilia Syndrome was suspected because of respiratory distress, situs inversus, abnormal nasal discharge and hyperinflated chest X-ray. We suggest that ultrastructural and functional investigations of the respiratory mucosa should be done in any newborn with respiratory distress without explanation for the respiratory problems. Establishment of the correct diagnosis at an early stage may allow to improve the prognosis provided prophylactic physiotherapy, vaccinations, and aggressive antibiotic treatment of intercurrent respiratory infections are instituted. CONCLUSION Despite its rarity, primary ciliary dyskinesia should be considered in unexplained cases of neonatal distress.
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Kartagener Syndrome: An uncommon cause of neonatal respiratory distress?
European Journal of Pediatrics, 1995Co-Authors: Massimo Losa, Daniela Ghelfi, Eran Hof, H. Felix, Sergio FanconiAbstract:We report a newborn with respiratory distress and situs inversus totalis. The diagnosis of primary ciliary dyskinesia was confirmed by both ultrastructural and functional investigations. The immotile cilia Syndrome was suspected because of respiratory distress, situs inversus, abnormal nasal discharge and hyperinflated chest X-ray. We suggest that ultrastructural and functional investigations of the respiratory mucosa should be done in any newborn with respiratory distress without explanation for the respiratory problems. Establishment of the correct diagnosis at an early stage may allow to improve the prognosis provided prophylactic physiotherapy, vaccinations, and aggressive antibiotic treatment of intercurrent respiratory infections are instituted.
Maimoona A. Zariwala - One of the best experts on this subject based on the ideXlab platform.
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clinical and genetic aspects of primary ciliary dyskinesia Kartagener Syndrome
Genetics in Medicine, 2009Co-Authors: Margaret W Leigh, John L. Carson, Michael R. Knowles, Thomas W. Ferkol, Sharon D. Dell, Jessica E Pittman, Stephanie D Davis, Maimoona A. ZariwalaAbstract:Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. Most of the disease-causing mutations identified to date involve the heavy (dynein axonemal heavy chain 5) or intermediate(dynein axonemal intermediate chain 1) chain dynein genes in ciliary outer dynein arms, although a few mutations have been noted in other genes. Clinical molecular genetic testing for primary ciliary dyskinesia is available for the most common mutations. The respiratory manifestations of primary ciliary dyskinesia (chronic bronchitis leading to bronchiectasis, chronic rhino-sinusitis, and chronic otitis media)reflect impaired mucociliary clearance owing to defective axonemal structure. Ciliary ultrastructural analysis in most patients (>80%) reveals defective dynein arms, although defects in other axonemal components have also been observed. Approximately 50% of patients with primary ciliary dyskinesia have laterality defects (including situs inversus totalis and, less commonly, heterotaxy, and congenital heart disease),reflecting dysfunction of embryological nodal cilia. Male infertility is common and reflects defects in sperm tail axonemes. Most patients with primary ciliary dyskinesia have a history of neonatal respiratory distress, suggesting that motile cilia play a role in fluid clearance during the transition from a fetal to neonatal lung. Ciliopathies involving sensory cilia, including autosomal dominant or recessive polycystic kidney disease, Bardet-Biedl Syndrome, and Alstrom Syndrome, may have chronic respiratory symptoms and even bronchiectasis suggesting clinical overlap with primary ciliary dyskinesia.
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Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener Syndrome
Genetics in Medicine, 2009Co-Authors: Margaret W Leigh, John L. Carson, Michael R. Knowles, Thomas W. Ferkol, Sharon D. Dell, Jessica E Pittman, Stephanie D Davis, Maimoona A. ZariwalaAbstract:Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. Most of the disease-causing mutations identified to date involve the heavy ( dynein axonemal heavy chain 5 ) or intermediate ( dynein axonemal intermediate chain 1 ) chain dynein genes in ciliary outer dynein arms, although a few mutations have been noted in other genes. Clinical molecular genetic testing for primary ciliary dyskinesia is available for the most common mutations. The respiratory manifestations of primary ciliary dyskinesia (chronic bronchitis leading to bronchiectasis, chronic rhino-sinusitis, and chronic otitis media) reflect impaired mucociliary clearance owing to defective axonemal structure. Ciliary ultrastructural analysis in most patients (>80%) reveals defective dynein arms, although defects in other axonemal components have also been observed. Approximately 50% of patients with primary ciliary dyskinesia have laterality defects (including situs inversus totalis and, less commonly, heterotaxy, and congenital heart disease), reflecting dysfunction of embryological nodal cilia. Male infertility is common and reflects defects in sperm tail axonemes. Most patients with primary ciliary dyskinesia have a history of neonatal respiratory distress, suggesting that motile cilia play a role in fluid clearance during the transition from a fetal to neonatal lung. Ciliopathies involving sensory cilia, including autosomal dominant or recessive polycystic kidney disease, Bardet-Biedl Syndrome, and Alstrom Syndrome, may have chronic respiratory symptoms and even bronchiectasis suggesting clinical overlap with primary ciliary dyskinesia.
Imad Kamal Eddine - One of the best experts on this subject based on the ideXlab platform.
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trans umbilical single incision laparoscopic sleeve gastrectomy in a patient with situs inversus totalis and Kartagener Syndrome video report
Obesity Surgery, 2015Co-Authors: Laurent Genser, Claude Tayar, Imad Kamal EddineAbstract:Background Single incision laparoscopic sleeve gastrectomy (SILSG) has proven to be a safe minimal invasive procedure. The umbilicus placement of the device allows the avoidance of any visible scars. Kartagener Syndrome is a rare genetic disorder (1:15 000) accompanied by the combination of chronic sinusitis/bronchiectasis leading to respiratory insufficiency and situs inversus totalis (SIT) in half of the patients. SIT is a transposition of organs to the opposite side of the body and can lead to difficulties in laparoscopic surgery because of mirror image anatomy modification.
Massimo Losa - One of the best experts on this subject based on the ideXlab platform.
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Kartagener Syndrome an uncommon cause of neonatal respiratory distress
European Journal of Pediatrics, 1995Co-Authors: Massimo Losa, Daniela Ghelfi, Eran Hof, H. Felix, Sergio FanconiAbstract:We report a newborn with respiratory distress and situs inversus totalis. The diagnosis of primary ciliary dyskinesia was confirmed by both ultrastructural and functional investigations. The immotile cilia Syndrome was suspected because of respiratory distress, situs inversus, abnormal nasal discharge and hyperinflated chest X-ray. We suggest that ultrastructural and functional investigations of the respiratory mucosa should be done in any newborn with respiratory distress without explanation for the respiratory problems. Establishment of the correct diagnosis at an early stage may allow to improve the prognosis provided prophylactic physiotherapy, vaccinations, and aggressive antibiotic treatment of intercurrent respiratory infections are instituted. CONCLUSION Despite its rarity, primary ciliary dyskinesia should be considered in unexplained cases of neonatal distress.
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Kartagener Syndrome: An uncommon cause of neonatal respiratory distress?
European Journal of Pediatrics, 1995Co-Authors: Massimo Losa, Daniela Ghelfi, Eran Hof, H. Felix, Sergio FanconiAbstract:We report a newborn with respiratory distress and situs inversus totalis. The diagnosis of primary ciliary dyskinesia was confirmed by both ultrastructural and functional investigations. The immotile cilia Syndrome was suspected because of respiratory distress, situs inversus, abnormal nasal discharge and hyperinflated chest X-ray. We suggest that ultrastructural and functional investigations of the respiratory mucosa should be done in any newborn with respiratory distress without explanation for the respiratory problems. Establishment of the correct diagnosis at an early stage may allow to improve the prognosis provided prophylactic physiotherapy, vaccinations, and aggressive antibiotic treatment of intercurrent respiratory infections are instituted.
Margaret W Leigh - One of the best experts on this subject based on the ideXlab platform.
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clinical and genetic aspects of primary ciliary dyskinesia Kartagener Syndrome
Genetics in Medicine, 2009Co-Authors: Margaret W Leigh, John L. Carson, Michael R. Knowles, Thomas W. Ferkol, Sharon D. Dell, Jessica E Pittman, Stephanie D Davis, Maimoona A. ZariwalaAbstract:Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. Most of the disease-causing mutations identified to date involve the heavy (dynein axonemal heavy chain 5) or intermediate(dynein axonemal intermediate chain 1) chain dynein genes in ciliary outer dynein arms, although a few mutations have been noted in other genes. Clinical molecular genetic testing for primary ciliary dyskinesia is available for the most common mutations. The respiratory manifestations of primary ciliary dyskinesia (chronic bronchitis leading to bronchiectasis, chronic rhino-sinusitis, and chronic otitis media)reflect impaired mucociliary clearance owing to defective axonemal structure. Ciliary ultrastructural analysis in most patients (>80%) reveals defective dynein arms, although defects in other axonemal components have also been observed. Approximately 50% of patients with primary ciliary dyskinesia have laterality defects (including situs inversus totalis and, less commonly, heterotaxy, and congenital heart disease),reflecting dysfunction of embryological nodal cilia. Male infertility is common and reflects defects in sperm tail axonemes. Most patients with primary ciliary dyskinesia have a history of neonatal respiratory distress, suggesting that motile cilia play a role in fluid clearance during the transition from a fetal to neonatal lung. Ciliopathies involving sensory cilia, including autosomal dominant or recessive polycystic kidney disease, Bardet-Biedl Syndrome, and Alstrom Syndrome, may have chronic respiratory symptoms and even bronchiectasis suggesting clinical overlap with primary ciliary dyskinesia.
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Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener Syndrome
Genetics in Medicine, 2009Co-Authors: Margaret W Leigh, John L. Carson, Michael R. Knowles, Thomas W. Ferkol, Sharon D. Dell, Jessica E Pittman, Stephanie D Davis, Maimoona A. ZariwalaAbstract:Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. Most of the disease-causing mutations identified to date involve the heavy ( dynein axonemal heavy chain 5 ) or intermediate ( dynein axonemal intermediate chain 1 ) chain dynein genes in ciliary outer dynein arms, although a few mutations have been noted in other genes. Clinical molecular genetic testing for primary ciliary dyskinesia is available for the most common mutations. The respiratory manifestations of primary ciliary dyskinesia (chronic bronchitis leading to bronchiectasis, chronic rhino-sinusitis, and chronic otitis media) reflect impaired mucociliary clearance owing to defective axonemal structure. Ciliary ultrastructural analysis in most patients (>80%) reveals defective dynein arms, although defects in other axonemal components have also been observed. Approximately 50% of patients with primary ciliary dyskinesia have laterality defects (including situs inversus totalis and, less commonly, heterotaxy, and congenital heart disease), reflecting dysfunction of embryological nodal cilia. Male infertility is common and reflects defects in sperm tail axonemes. Most patients with primary ciliary dyskinesia have a history of neonatal respiratory distress, suggesting that motile cilia play a role in fluid clearance during the transition from a fetal to neonatal lung. Ciliopathies involving sensory cilia, including autosomal dominant or recessive polycystic kidney disease, Bardet-Biedl Syndrome, and Alstrom Syndrome, may have chronic respiratory symptoms and even bronchiectasis suggesting clinical overlap with primary ciliary dyskinesia.
