The Experts below are selected from a list of 42 Experts worldwide ranked by ideXlab platform
Massroor Pourcyrous - One of the best experts on this subject based on the ideXlab platform.
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A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease.
Pediatrics, 2012Co-Authors: Kelly L. Jones, Eniko K. Pivnick, Stacy Hines-dowell, Debra E. Weese-mayer, Elizabeth Berry-kravis, Teresa Santiago, Chukwuma C. Nnorom, Massroor PourcyrousAbstract:Down syndrome (DS) is recognized by characteristic facial features, intellectual disability, and an increased risk for cardiac malformations and duodenal atresia. Recently, Hirschsprung disease (HSCR), or congenital aganglionic megacolon, has been seen more often among patients with DS. Given the systemic nature of DS-related features, it is natural to attribute neonatal complications to the chromosomal aberration. We describe a biracial male infant with DS who had significantly delayed defecation and required Continuous Ventilator support, but had no primary cardiac or lung disease. Subsequent evaluations confirmed total colonic aganglionosis. Because we were unable to safely extubate the infant, a diagnosis of congenital central hypoventilation syndrome (CCHS) was considered and confirmed by molecular analysis of the PHOX2B gene, revealing a heterozygous polyalanine repeat-expansion mutation containing 27 repeats (normal gene contains 20 repeats). HSCR coexisting with CCHS is known as Haddad syndrome. This is the first reported case with co-occurrence of DS, CCHS, and HSCR. * Abbreviations: CCHS — : congenital central hypoventilation syndrome DS — : Down syndrome HSCR — : Hirschsprung disease
Sanjeev Sabharwal - One of the best experts on this subject based on the ideXlab platform.
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High pulmonary risk scoliosis surgery: Role of noninvasive ventilation and related techniques
Journal of Spinal Disorders and Techniques, 2005Co-Authors: John R. Bach, Sanjeev SabharwalAbstract:OBJECTIVE There is little awareness among surgeons of the potential for noninvasive mechanical ventilation as an alternative to prolonged endotracheal intubation or tracheostomy for patients with neuromuscular scoliosis and Ventilatory failure. These methods have not been reported for the perioperative management of scoliosis correction in patients with an inability to sustain their alveolar ventilation. METHODS Five children with flaccid scoliosis secondary to muscular dystrophy or spinal muscular atrophy who had very high pulmonary risk were preoperatively trained in the use of noninvasive intermittent positive-pressure ventilation (IPPV) and mechanically assisted coughing prior to spinal fusion. RESULTS All patients were extubated by the third postoperative day to noninvasive IPPV despite Continuous Ventilator dependence. No patient developed any postoperative pulmonary complications or required a tracheotomy. CONCLUSIONS It is critical for the orthopedic surgeon to be aware of these noninvasive options to tracheotomy to decrease the tendency to avoid surgery for these otherwise high-risk surgical patients.
Wu-shiun Hsieh - One of the best experts on this subject based on the ideXlab platform.
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Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation in a Taiwanese Infant
Journal of the Formosan Medical Association, 2007Co-Authors: Lei-ru Chen, Po-nien Tsao, Yi-ning Su, Hung-cheih Chou, Chien-yi Chen, Yu-hsun Chang, Wu-shiun HsiehAbstract:Congenital central hypoventilation syndrome (CCHS) is a rare disease that is characterized by failure in the autonomic control of breathing. Recent reports have identified mutation of the paired mesoderm homeobox protein 2b (PHOX2B) gene as playing a major role in CCHS. Increasing polyalanine repeat number is associated with a more severe clinical phenotype. We report a newborn male infant with the clinical manifestations of apnea and cyanosis requiring immediate endotracheal intubation at the age of 1 day. Recurrent hypoventilation with hypercapnia and hypoxemia occurred during sleep after weaning from the Ventilator. No primary cardiopulmonary disease was identified. These clinical manifestations are compatible with CCHS. PHOX2B gene mutation analysis performed at the age of 4 months revealed expanded alleles containing polyalanine 26 repeats, further supporting the diagnosis of CCHS. Continuous Ventilator support was necessary and tracheostomy was ultimately performed at the age of 5 months due to Ventilator dependence. He was discharged with home Ventilator support at the age of 6 months.
Kelly L. Jones - One of the best experts on this subject based on the ideXlab platform.
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A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease.
Pediatrics, 2012Co-Authors: Kelly L. Jones, Eniko K. Pivnick, Stacy Hines-dowell, Debra E. Weese-mayer, Elizabeth Berry-kravis, Teresa Santiago, Chukwuma C. Nnorom, Massroor PourcyrousAbstract:Down syndrome (DS) is recognized by characteristic facial features, intellectual disability, and an increased risk for cardiac malformations and duodenal atresia. Recently, Hirschsprung disease (HSCR), or congenital aganglionic megacolon, has been seen more often among patients with DS. Given the systemic nature of DS-related features, it is natural to attribute neonatal complications to the chromosomal aberration. We describe a biracial male infant with DS who had significantly delayed defecation and required Continuous Ventilator support, but had no primary cardiac or lung disease. Subsequent evaluations confirmed total colonic aganglionosis. Because we were unable to safely extubate the infant, a diagnosis of congenital central hypoventilation syndrome (CCHS) was considered and confirmed by molecular analysis of the PHOX2B gene, revealing a heterozygous polyalanine repeat-expansion mutation containing 27 repeats (normal gene contains 20 repeats). HSCR coexisting with CCHS is known as Haddad syndrome. This is the first reported case with co-occurrence of DS, CCHS, and HSCR. * Abbreviations: CCHS — : congenital central hypoventilation syndrome DS — : Down syndrome HSCR — : Hirschsprung disease
Lei-ru Chen - One of the best experts on this subject based on the ideXlab platform.
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Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation in a Taiwanese Infant
Journal of the Formosan Medical Association, 2007Co-Authors: Lei-ru Chen, Po-nien Tsao, Yi-ning Su, Hung-cheih Chou, Chien-yi Chen, Yu-hsun Chang, Wu-shiun HsiehAbstract:Congenital central hypoventilation syndrome (CCHS) is a rare disease that is characterized by failure in the autonomic control of breathing. Recent reports have identified mutation of the paired mesoderm homeobox protein 2b (PHOX2B) gene as playing a major role in CCHS. Increasing polyalanine repeat number is associated with a more severe clinical phenotype. We report a newborn male infant with the clinical manifestations of apnea and cyanosis requiring immediate endotracheal intubation at the age of 1 day. Recurrent hypoventilation with hypercapnia and hypoxemia occurred during sleep after weaning from the Ventilator. No primary cardiopulmonary disease was identified. These clinical manifestations are compatible with CCHS. PHOX2B gene mutation analysis performed at the age of 4 months revealed expanded alleles containing polyalanine 26 repeats, further supporting the diagnosis of CCHS. Continuous Ventilator support was necessary and tracheostomy was ultimately performed at the age of 5 months due to Ventilator dependence. He was discharged with home Ventilator support at the age of 6 months.