Literature DB >> 21499593

Presentation and treatment of monozygotic twins with congenital central hypoventilation syndrome.

Reshma Amin1, Andrea Riekstins, Suhail Al-Saleh, Colin Massicotte, Allan L Coates, Ian MacLusky.   

Abstract

Congenital central hypoventilation syndrome is a rare genetic disorder characterized by hypoventilation during sleep secondary to a blunted response to hypercapnia and hypoxia. The current case report describes developmentally normal four-year-old monozygotic twin boys who presented in infancy with variable presentations and clinical severity of congenital central hypoventilation syndrome. Both were managed with noninvasive positive pressure ventilation.

Entities:  

Mesh：

Year:  2011        PMID： 21499593      PMCID： PMC3084422          DOI： 10.1155/2011/989741

Source DB:  PubMed          Journal:  Can Respir J        ISSN： 1198-2241            Impact factor:   2.409


  29 in total

Review 1.  Idiopathic congenital central hypoventilation syndrome: diagnosis and management. American Thoracic Society.

Authors: 
Journal:  Am J Respir Crit Care Med       Date:  1999-07       Impact factor: 21.405

2.  Monozygotic twins with Marfan's syndrome and ascending aortic aneurysm.

Authors:  Héctor Jorge Redruello; Tomas Francisco Cianciulli; Eduardo Fernandez Rostello; Barbara Recalde; Jorge Alberto Lax; Victorio Próspero Picone; Sandro Mario Belforte; Horacio Alberto Prezioso
Journal:  Eur J Echocardiogr       Date:  2006-06-15

Review 3.  Diaphragm pacers as a treatment for congenital central hypoventilation syndrome.

Authors:  Maida Lynn Chen; Mary Anne Tablizo; Sheila Kun; Thomas G Keens
Journal:  Expert Rev Med Devices       Date:  2005-09       Impact factor: 3.166

4.  Differential clinical and motor control function in a pair of monozygotic twins with Huntington's disease.

Authors:  N Georgiou; J L Bradshaw; E Chiu; A Tudor; L O'Gorman; J G Phillips
Journal:  Mov Disord       Date:  1999-03       Impact factor: 10.338

5.  Cardiac rhythm disturbances among children with idiopathic congenital central hypoventilation syndrome.

Authors:  J M Silvestri; B D Hanna; A S Volgman; P J Jones; S D Barnes; D E Weese-Mayer
Journal:  Pediatr Pulmonol       Date:  2000-05

6.  Autonomic function in children with congenital central hypoventilation syndrome and their families.

Authors:  Louise M O'Brien; Cheryl R Holbrook; Mary Vanderlaan; Jeanne Amiel; David Gozal
Journal:  Chest       Date:  2005-10       Impact factor: 9.410

Review 7.  Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.

Authors:  Debra E Weese-Mayer; Casey M Rand; Elizabeth M Berry-Kravis; Larry J Jennings; Darius A Loghmanee; Pallavi P Patwari; Isabella Ceccherini
Journal:  Pediatr Pulmonol       Date:  2009-06

8.  Diaphragmatic pacing for the treatment of congenital central alveolar hypoventilation syndrome.

Authors:  Abdullah Ali; Helene Flageole
Journal:  J Pediatr Surg       Date:  2008-05       Impact factor: 2.545

9.  Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death.

Authors:  Jerome O Gronli; Barbara A Santucci; Sue E Leurgans; Elizabeth M Berry-Kravis; Debra E Weese-Mayer
Journal:  Pediatr Pulmonol       Date:  2008-01

10.  Short-term blood pressure and heart rate variability in congenital central hypoventilation syndrome (Ondine's curse).

Authors:  Ha Trang; Arlette Girard; Dominique Laude; Jean-Luc Elghozi
Journal:  Clin Sci (Lond)       Date:  2005-03       Impact factor: 6.124
View more
  7 in total

1.  Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel PHOX2B Gene Non-Polyalanine Repeat Mutation.

Authors:  Ajay S Kasi; Taryn J Jurgensen; Stephanie Yen; Sheila S Kun; Thomas G Keens; Iris A Perez
Journal:  J Clin Sleep Med       Date:  2017-07-15       Impact factor: 4.062

2.  Intelligent volume-assured pressured support (iVAPS) for the treatment of congenital central hypoventilation syndrome.

Authors:  Abdullah Khayat; Debra Medin; Faiza Syed; Theo J Moraes; Saadoun Bin-Hasan; Indra Narang; Suhail Al-Saleh; Reshma Amin
Journal:  Sleep Breath       Date:  2017-02-11       Impact factor: 2.816

3.  Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation.

Authors:  Joana Magalhães; Núria Madureira; Rita Medeiros; Paula C Fernandes; Myriam Oufadem; Jeanne Amiel; M Helena Estêvão; M Guilhermina Reis
Journal:  Sleep Breath       Date:  2014-05-04       Impact factor: 2.816

4.  Three generations of a family diagnosed with congenital central hypoventilation syndrome: A case series.

Authors:  Vishal Saddi; Ganesh Thambipillay; Marina Pimenta; Bradley Martin; Gregory Blecher; Arthur Teng
Journal:  Respirol Case Rep       Date:  2022-07-02

5.  Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series.

Authors:  Elizabeth Bygarski; Melanie Paterson; Edmond G Lemire
Journal:  J Med Case Rep       Date:  2013-04-26

6.  Screening Children with a Family History of Central Congenital Hypoventilation Syndrome.

Authors:  Hina Emanuel; Kimberly Rennie; Kelly Macdonald; Aravind Yadav; Ricardo A Mosquera
Journal:  Case Rep Pediatr       Date:  2020-03-26

7.  A respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutation.

Authors:  Nikolai Paul Pace; Michael Pace Bardon; Isabella Borg
Journal:  Mol Genet Genomic Med       Date:  2020-10-13       Impact factor: 2.183
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.