The Experts below are selected from a list of 423 Experts worldwide ranked by ideXlab platform
Alexander Safuanov - One of the best experts on this subject based on the ideXlab platform.
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Primary repair of tetralogy of Fallot combined with unilateral left Lung Agenesis with crossed-ectopic right lower lobe
Indian Journal of Thoracic and Cardiovascular Surgery, 2016Co-Authors: Michael Malyshev, Alexander Safuanov, Anton Malyshev, Dmitry Siniukov, Andrew RostovykhAbstract:Unilateral Lung Agenesis is a rare congenital anomaly often combined with congenital malformations of different systems. A case of tetralogy of Fallot repair with unilateral left Lung Agenesis via median sternotomy is described for the first time. In this case, the choice of surgical approach to the heart could be affected by the fears of not getting optimal surgical exposition via median sternotomy due to severe displacement of the chest organs. The case demonstrates the median sternotomy as an optimal surgical approach even in high degrees of organ displacement caused by a combination of left pulmonary Agenesis and cardiac lesions.
Sarah Smithson - One of the best experts on this subject based on the ideXlab platform.
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Mardini-Nyhan association (Lung Agenesis, congenital heart, and thumb anomalies): three new cases and possible recurrence in a sib-is there a distinct recessive syndrome?
American journal of medical genetics. Part A, 2020Co-Authors: Rob Hastings, David Harding, Alan Donaldson, Rachel Liebling, Alison Hayes, Alison Kraus, Shelagh Joss, Shuba Narayanaswamy, Peter Turnpenny, Sarah SmithsonAbstract:In 1985, Mardini and Nyhan described three patients from consanguineous families with unilateral complete/partial Lung Agenesis, congenital cardiac defects, and ipsilateral thumb anomalies. Although there have been many reports of Lung Agenesis with other malformations, especially hemifacial microsomia and radial ray anomalies, very few demonstrate this triad of defects. We describe three patients with the Mardini-Nyhan association which may represent a distinct entity, although this remains uncertain at present. A fourth patient is also described, the sister of one of the other patients, with complex congenital cardiac disease and bilateral Lung lobation abnormalities. This is the first reported incidence of a possible recurrence within a family and suggests, together with the consanguinity observed by Mardini and Nyhan, that recessive inheritance should be considered in genetic counseling for this disorder.
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mardini nyhan association Lung Agenesis congenital heart and thumb anomalies three new cases and possible recurrence in a sib is there a distinct recessive syndrome
American Journal of Medical Genetics Part A, 2009Co-Authors: Rob Hastings, David Harding, Alan Donaldson, Rachel Liebling, Alison Hayes, Alison Kraus, Shelagh Joss, Shuba Narayanaswamy, Peter Turnpenny, Sarah SmithsonAbstract:In 1985, Mardini and Nyhan described three patients from consanguineous families with unilateral complete/partial Lung Agenesis, congenital cardiac defects, and ipsilateral thumb anomalies. Although there have been many reports of Lung Agenesis with other malformations, especially hemifacial microsomia and radial ray anomalies, very few demonstrate this triad of defects. We describe three patients with the Mardini–Nyhan association which may represent a distinct entity, although this remains uncertain at present. A fourth patient is also described, the sister of one of the other patients, with complex congenital cardiac disease and bilateral Lung lobation abnormalities. This is the first reported incidence of a possible recurrence within a family and suggests, together with the consanguinity observed by Mardini and Nyhan, that recessive inheritance should be considered in genetic counseling for this disorder. © 2009 Wiley-Liss, Inc.
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Mardini–Nyhan association (Lung Agenesis, congenital heart, and thumb anomalies): Three new cases and possible recurrence in a sib—Is there a distinct recessive syndrome?†
American Journal of Medical Genetics Part A, 2009Co-Authors: Rob Hastings, David Harding, Alan Donaldson, Rachel Liebling, Alison Hayes, Alison Kraus, Shelagh Joss, Shuba Narayanaswamy, Peter Turnpenny, Sarah SmithsonAbstract:In 1985, Mardini and Nyhan described three patients from consanguineous families with unilateral complete/partial Lung Agenesis, congenital cardiac defects, and ipsilateral thumb anomalies. Although there have been many reports of Lung Agenesis with other malformations, especially hemifacial microsomia and radial ray anomalies, very few demonstrate this triad of defects. We describe three patients with the Mardini–Nyhan association which may represent a distinct entity, although this remains uncertain at present. A fourth patient is also described, the sister of one of the other patients, with complex congenital cardiac disease and bilateral Lung lobation abnormalities. This is the first reported incidence of a possible recurrence within a family and suggests, together with the consanguinity observed by Mardini and Nyhan, that recessive inheritance should be considered in genetic counseling for this disorder. © 2009 Wiley-Liss, Inc.
Shyjye Chen - One of the best experts on this subject based on the ideXlab platform.
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unilateral left Lung Agenesis with crossed ectopic right lower lobe combined tricuspid atresia diagnosed by ecg gated computed tomography
The Journal of Thoracic and Cardiovascular Surgery, 2010Co-Authors: Lilan Chiang, Shuchien Huang, Shuennnan Chiu, Shyjye ChenAbstract:Young in-fants with this condition may face a catastrophic clinicalcourse. We report an unusual case of Lung Agenesis withcomplexcardiacanomaliesand crossedectopicLungcompli-cating diagnosis in a 6-month-old child.CLINICAL SUMMARYAboywasbornuneventfullytoahealthymotheratagesta-tionalageof37weeks.Lowbirthweight(1700g)andmultiplecongenital anomalies were found at birth, including large an-terior fontanel and syndactyly over the second and third toes.Because tachypnea and heart murmur were heard 3 days afterbirth, serial workup was arranged. Chest radiography showedleft Lung haziness (Figure 1), and echocardiography showedtricuspid atresia, small ventricular septal defect, atrial septaldefect, large patent ductus arteriosus, and suspected left pul-monary artery and pulmonary vein Agenesis (Figure 2, A andB). Because ofthe suspected left Lung Agenesis, electrocardio-graphically gated chest computed tomography and 3-dimen-sional reconstruction were performed (Figure 2, C and D,andVideo1).Crossedectopicrightlowerlobeinthelefthemi-thoraxwasfoundincidentally,inadditiontoleftLungAgenesisandtricuspidatresia.Thearteriesandveinssupplyingnotonlythislobebut alsothe bronchusofthislobewerefromthe rightLung.Thepatient’srespiratorydistressandheartfailuresymp-toms improved after anticongestive medication, and he wasthen discharged at 2 weeks old.When the boy was 5 months old, mean pulmonary arterypressure was measured as 10 mm Hg by cardiac catheteriza-tion. We then performed a staged operation including bidi-rectional Glenn shunt, atrial septal defect enlargement, andpatent ductus arteriosus ligation for his tricuspid atresia.The postoperative course was uneventful, and the patientwas discharged 10 days after the operation and followedup at our cardiology clinics. Total cavopulmonary circula-tion will be arranged in the future.DISCUSSIONLung Agenesis is a rare congenital anomaly that may beassociated with multiple congenital anomalies.
Surya Kant - One of the best experts on this subject based on the ideXlab platform.
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asthma diagnosis and treatment 1028 a rare case of bronchial asthma and allergic rhinitis with complete right Lung Agenesis investigated in tertiary case hospital
World Allergy Organization Journal, 2013Co-Authors: Ram Awadh Singh Kushwaha, Rajiv Garg, T G Rangnath, Rajendra Prasad, Surya KantAbstract:Methods A 26 year-old lady presented with episodic breathlessness, chest tightness, recurrent nasal obstruction and excessive sneezing, mainly during change of season along with opacity of the right hemithorax on chest x-ray. Further detailed work-up including spirometry, high resolution CT scan of the thorax and fibreoptic bronchoscopy confirmed complete right Lung Agenesis in patients with bronchial asthma and allergic rhinitis.
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Asthma diagnosis and treatment – 1028. A rare case of bronchial asthma and allergic rhinitis with complete right Lung Agenesis investigated in tertiary case hospital
World Allergy Organization Journal, 2013Co-Authors: Ram Awadh Singh Kushwaha, Rajiv Garg, T G Rangnath, Rajendra Prasad, Surya KantAbstract:Methods A 26 year-old lady presented with episodic breathlessness, chest tightness, recurrent nasal obstruction and excessive sneezing, mainly during change of season along with opacity of the right hemithorax on chest x-ray. Further detailed work-up including spirometry, high resolution CT scan of the thorax and fibreoptic bronchoscopy confirmed complete right Lung Agenesis in patients with bronchial asthma and allergic rhinitis.
Rob Hastings - One of the best experts on this subject based on the ideXlab platform.
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Mardini-Nyhan association (Lung Agenesis, congenital heart, and thumb anomalies): three new cases and possible recurrence in a sib-is there a distinct recessive syndrome?
American journal of medical genetics. Part A, 2020Co-Authors: Rob Hastings, David Harding, Alan Donaldson, Rachel Liebling, Alison Hayes, Alison Kraus, Shelagh Joss, Shuba Narayanaswamy, Peter Turnpenny, Sarah SmithsonAbstract:In 1985, Mardini and Nyhan described three patients from consanguineous families with unilateral complete/partial Lung Agenesis, congenital cardiac defects, and ipsilateral thumb anomalies. Although there have been many reports of Lung Agenesis with other malformations, especially hemifacial microsomia and radial ray anomalies, very few demonstrate this triad of defects. We describe three patients with the Mardini-Nyhan association which may represent a distinct entity, although this remains uncertain at present. A fourth patient is also described, the sister of one of the other patients, with complex congenital cardiac disease and bilateral Lung lobation abnormalities. This is the first reported incidence of a possible recurrence within a family and suggests, together with the consanguinity observed by Mardini and Nyhan, that recessive inheritance should be considered in genetic counseling for this disorder.
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mardini nyhan association Lung Agenesis congenital heart and thumb anomalies three new cases and possible recurrence in a sib is there a distinct recessive syndrome
American Journal of Medical Genetics Part A, 2009Co-Authors: Rob Hastings, David Harding, Alan Donaldson, Rachel Liebling, Alison Hayes, Alison Kraus, Shelagh Joss, Shuba Narayanaswamy, Peter Turnpenny, Sarah SmithsonAbstract:In 1985, Mardini and Nyhan described three patients from consanguineous families with unilateral complete/partial Lung Agenesis, congenital cardiac defects, and ipsilateral thumb anomalies. Although there have been many reports of Lung Agenesis with other malformations, especially hemifacial microsomia and radial ray anomalies, very few demonstrate this triad of defects. We describe three patients with the Mardini–Nyhan association which may represent a distinct entity, although this remains uncertain at present. A fourth patient is also described, the sister of one of the other patients, with complex congenital cardiac disease and bilateral Lung lobation abnormalities. This is the first reported incidence of a possible recurrence within a family and suggests, together with the consanguinity observed by Mardini and Nyhan, that recessive inheritance should be considered in genetic counseling for this disorder. © 2009 Wiley-Liss, Inc.
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Mardini–Nyhan association (Lung Agenesis, congenital heart, and thumb anomalies): Three new cases and possible recurrence in a sib—Is there a distinct recessive syndrome?†
American Journal of Medical Genetics Part A, 2009Co-Authors: Rob Hastings, David Harding, Alan Donaldson, Rachel Liebling, Alison Hayes, Alison Kraus, Shelagh Joss, Shuba Narayanaswamy, Peter Turnpenny, Sarah SmithsonAbstract:In 1985, Mardini and Nyhan described three patients from consanguineous families with unilateral complete/partial Lung Agenesis, congenital cardiac defects, and ipsilateral thumb anomalies. Although there have been many reports of Lung Agenesis with other malformations, especially hemifacial microsomia and radial ray anomalies, very few demonstrate this triad of defects. We describe three patients with the Mardini–Nyhan association which may represent a distinct entity, although this remains uncertain at present. A fourth patient is also described, the sister of one of the other patients, with complex congenital cardiac disease and bilateral Lung lobation abnormalities. This is the first reported incidence of a possible recurrence within a family and suggests, together with the consanguinity observed by Mardini and Nyhan, that recessive inheritance should be considered in genetic counseling for this disorder. © 2009 Wiley-Liss, Inc.
