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Congenital Central hypoventilation syndrome

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https://www.readbyqxmd.com/read/28721821/current-perspectives-for-the-use-of-gonane-progesteronergic-drugs-in-the-treatment-of-central-hypoventilation-syndromes
#1
Camille Loiseau, Florence Cayetanot, Fanny Joubert, Anne-Sophie Perrin-Terrin, Philippe Cardot, Marie-Noëlle Fiamma, Alain Frugiere, Christian Straus, Laurence Bodineau
BACKGROUND: Central alveolar hypoventilation syndromes (CHS) encompass neurorespiratory diseases resulting from congenital or acquired neurological disorders. Hypercapnia, acidosis, and hypoxemia resulting from CHS negatively affect physiological functions and can be life-threatening. To date, the absence of pharmacological treatment implies that the patients must receive assisted ventilation throughout their lives. OBJECTIVE: To highlight the relevance of determining conditions in which using gonane synthetic progestins could be of potential clinical interest for the treatment of CHS...
July 19, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28708033/neuropsychological-profile-and-social-cognition-in-congenital-central-hypoventilation-syndrome-cchs-correlation-with-neuroimaging-in-a-clinical-case
#2
Borja Esteso Orduña, Raquel Seijas Gómez, Elena García Esparza, Emily M Briceño, Javier Melero Llorente, María de la Concepción Fournier Del Castillo
INTRODUCTION: Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder due to paired-like homeobox gene (PHOX2B) mutations. CCHS patients suffer from dysregulation of the autonomic nervous system characterized by the absence of or extremely reduced response to hypercapnia and hypoxia, with neuropsychological deficits. The aim of this exploratory study is to describe the longitudinal neuropsychological profile and its correlations with magnetic resonance imaging (MRI) of a child with CCHS with a PHOX2B mutation...
July 14, 2017: Journal of Clinical and Experimental Neuropsychology
https://www.readbyqxmd.com/read/28633714/three-generation-family-with-congenital-central-hypoventilation-syndrome-and-novel-phox2b-gene-non-polyalanine-repeat-mutation
#3
Ajay S Kasi, Taryn J Jurgensen, Stephanie Yen, Sheila S Kun, Thomas G Keens, Iris A Perez
PHOX2B non-polyalanine repeat mutation (NPARM) in patients with congenital central hypoventilation syndrome (CCHS) is generally considered to be associated with full-time ventilator dependence and severe autonomic nervous system dysfunction. We report a three-generation family with four individuals possessing a novel PHOX2B NPARM (c.245C > T) with variable phenotypes. This mutation was inherited in an autosomal dominant pattern with variable penetrance. The affected family members with CCHS have a milder phenotype than is typically expected with a NPARM...
July 15, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/28464318/examination-of-phox2b-in-adult-neuroendocrine-neoplasms-reveals-relatively-frequent-expression-in-phaeochromocytomas-and-paragangliomas
#4
John P Lee, Yin P Hung, Thomas M O'Dorisio, James R Howe, Jason L Hornick, Andrew M Bellizzi
AIMS: Paired-like homeobox 2b (PHOX2B) is a transcription factor with expression outside of the central nervous system restricted to neurons and chromaffin cells of the autonomic nervous system. Germline mutations cause congenital central hypoventilation syndrome and predispose to neuroblastoma and Hirschsprung disease. Among paediatric small round cell tumours, PHOX2B is neuroblastoma-specific. Two studies of adult autonomic nervous system tumours (n = 62) produced conflicting results (all tumours stained in one; expression restricted to 40% of paragangliomas in the other)...
May 2, 2017: Histopathology
https://www.readbyqxmd.com/read/28433712/common-phox2b-poly-alanine-contractions-impair-ret-gene-transcription-predisposing-to-hirschsprung-disease
#5
Eleonora Di Zanni, Annalisa Adamo, Elga Belligni, Margherita Lerone, Giuseppe Martucciello, Girolamo Mattioli, Alessio Pini Prato, Roberto Ravazzolo, Margherita Silengo, Tiziana Bachetti, Isabella Ceccherini
HSCR is a congenital disorder of the enteric nervous system, characterized by the absence of neurons along a variable length of the gut resulting from loss-of-function RET mutations. Congenital Central Hypoventilation Syndrome (CCHS) is a rare neurocristopathy characterized by impaired response to hypercapnia and hypoxemia caused by heterozygous mutations of the PHOX2B gene, mostly polyalanine (polyA) expansions but also missense, nonsense, and frameshift mutations, while polyA contractions are common in the population and believed neutral...
April 20, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28371199/nonsense-pathogenic-variants-in-exon-1-of-phox2b-lead-to-translational-reinitiation-in-congenital-central-hypoventilation-syndrome
#6
Jacob T Cain, Dae I Kim, Megan Quast, Winnie G Shivega, Ryan J Patrick, Chuanpit Moser, Suzanne Reuter, Myrza Perez, Angela Myers, Jill M Weimer, Kyle J Roux, Megan Landsverk
Pathogenic variants in PHOX2B lead to congenital central hypoventilation syndrome (CCHS), a rare disorder of the nervous system characterized by autonomic dysregulation and hypoventilation typically presenting in the neonatal period, although a milder late-onset (LO) presentation has been reported. More than 90% of cases are caused by polyalanine repeat mutations (PARMs) in the C-terminus of the protein; however non-polyalanine repeat mutations (NPARMs) have been reported. Most NPARMs are located in exon 3 of PHOX2B and result in a more severe clinical presentation including Hirschsprung disease (HSCR) and/or peripheral neuroblastic tumors (PNTs)...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28356171/a-case-of-abnormally-abnormal-hypoxic-ventilatory-responses-a-novel-nparm-phox2b-gene-mutation
#7
Stefan A Unger, Maude Guillot, Donald S Urquhart
Congenital central hypoventilation syndrome (CCHS) is a rare disorder associated with dysregulation of the autonomic ventilatory response to hypoxia and hypercarbia usually caused by polyalanine repeat expansion mutations in the PHOX2B gene. Non-polyalanine repeat mutations (NPARM) represent approximately 10% of cases, and usually require continuous ventilation during sleep, although our knowledge of disease progression is limited. Here we present a case with a novel NPARMCCHS mutation associated with a premature stop codon for the PHOX2B protein...
March 28, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/28246169/expanded-polyalanine-tracts-function-as-nuclear-export-signals-and-promote-protein-mislocalization-via-eef1a1-factor
#8
Li Li, Nelson Ka Lam Ng, Alex Chun Koon, Ho Yin Edwin Chan
Polyalanine (poly(A)) diseases are caused by the expansion of translated GCN triplet nucleotide sequences encoding poly(A) tracts in proteins. To date, nine human disorders have been found to be associated with poly(A) tract expansions, including congenital central hypoventilation syndrome and oculopharyngeal muscular dystrophy. Previous studies have demonstrated that unexpanded wild-type poly(A)-containing proteins localize to the cell nucleus, whereas expanded poly(A)-containing proteins primarily localize to the cytoplasm...
April 7, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28115003/normal-sleep-on-mechanical-ventilation-in-adult-patients-with-congenital-central-alveolar-hypoventilation-ondine-s-curse-syndrome
#9
Valérie Attali, Christian Straus, Michel Pottier, Marie-Annick Buzare, Capucine Morélot-Panzini, Isabelle Arnulf, Thomas Similowski
BACKGROUND: The purpose of this study was to describe the sleep structure (especially slow wave sleep) in adults with congenital central hypoventilation syndrome (CCHS), a rare genetic disease due to mutations in the PHOX2B gene. Fourteen patients aged 23 (19.0; 24.8) years old (median [1(rst)-3rd quartiles]) with CCHS underwent a sleep interview and night-time attended polysomnography with their ventilatory support. Their sleep variables were compared to those collected in 15 healthy control subjects matched for age, sex and body mass index...
January 23, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28070480/central-congenital-hypoventilation-syndrome-associated-with-hypoglycemia-and-seizure
#10
Emily Hopkins, James Stark, Ricardo A Mosquera
Central Congenital Hypoventilation Syndrome (CCHS) is a rare diagnosis that presents with various forms of autonomic dysfunction. The disease is characterized by reduced chemoreflexes and severe hypoventilation during sleep. Several case reports have noted that patients with CCHS have been found to suffer from hypoglycemic episodes, which frequently present as a seizure. In this report, we will review previous case presentations to alert the physicians about this association with hypoglycemic episodes. Early treatment and monitoring of hypoglycemia will prevent further complications for these populations...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/27918326/anesthetic-considerations-for-patients-with-congenital-central-hypoventilation-syndrome-a-systematic-review-of-the-literature
#11
REVIEW
Saptashree M Basu, Frances F Chung, Shireen F AbdelHakim, Jean Wong
Congenital central hypoventilation syndrome (CCHS) is a form of sleep-disordered breathing characterized by a diminished drive to breathe during sleep, despite progressive hypercapnia and hypoxia. The condition results from mutations in the paired-like homeobox 2B (PHOX2B) gene. The aim of this review was to conduct a systematic search of the current data on CCHS as it relates to perioperative considerations and to discuss the classification, prevalence, pathophysiology, presentation, genetics, and management of the condition...
January 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/27866447/challenges-in-congenital-central-hypoventilation-syndrome-ondine-s-curse-on-pregnancy-a-case-report
#12
Renato Teixeira Souza, Felipe Favorette Campanharo, Edward Araujo Júnior, Gustavo Antonio Moreira, Diego Robles Mazzotti, Rosiane Mattar, Antonio Fernandes Moron, Fernando Morgadinho Santos Coelho
No abstract text is available yet for this article.
November 21, 2016: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27797160/pathogenesis-of-central-and-complex-sleep-apnoea
#13
REVIEW
Jeremy E Orr, Atul Malhotra, Scott A Sands
Central sleep apnoea (CSA) - the temporary absence or diminution of ventilatory effort during sleep - is seen in a variety of forms including periodic breathing in infancy and healthy adults at altitude and Cheyne-Stokes respiration in heart failure. In most circumstances, the cyclic absence of effort is paradoxically a consequence of hypersensitive ventilatory chemoreflex responses to oppose changes in airflow, that is elevated loop gain, leading to overshoot/undershoot ventilatory oscillations. Considerable evidence illustrates overlap between CSA and obstructive sleep apnoea (OSA), including elevated loop gain in patients with OSA and the presence of pharyngeal narrowing during central apnoeas...
January 2017: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/27784491/-congenital-central-hypoventilation-syndrome
#14
F Han
No abstract text is available yet for this article.
October 12, 2016: Chinese Journal of Tuberculosis and Respiratory Diseases
https://www.readbyqxmd.com/read/27763701/alternative-methods-of-lung-isolation-in-cases-of-pediatric-bilateral-thoracoscopic-surgery
#15
Mark Wigginton, Laura Lehrian
We compare airway management and lung isolation methods in two pediatric cases of congenital central hypoventilation syndrome undergoing bilateral throacoscopic phrenic-nerve-stimulator surgery. One child received lung isolation using a 7Fr bronchial blocker in conjunction with a 6.0 cuffed endotracheal tube; and the second received a technique of endobronchial intubation using a 3.5 microcuffed tube via the tracheostomy stoma in conjunction with 5.0 cuffed endotracheal intubation; a technique previously undescribed in pediatric patients...
December 2016: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/27673423/congenital-central-hypoventilation-syndrome-a-bedside-to-bench-success-story-for-advancing-early-diagnosis-and-treatment-and-improved-survival-and-quality-of-life
#16
REVIEW
Debra E Weese-Mayer, Casey M Rand, Amy Zhou, Michael S Carroll, Carl E Hunt
The "bedside-to-bench" Congenital Central Hypoventilation Syndrome (CCHS) research journey has led to increased phenotypic-genotypic knowledge regarding autonomic nervous system (ANS) regulation, and improved clinical outcomes. CCHS is a neurocristopathy characterized by hypoventilation and ANS dysregulation. Initially described in 1970, timely diagnosis and treatment remained problematic until the first large cohort report (1992), delineating clinical presentation and treatment options. A central role of ANS dysregulation (2001) emerged, precipitating evaluation of genes critical to ANS development, and subsequent 2003 identification of Paired-Like Homeobox 2B (PHOX2B) as the disease-defining gene for CCHS...
November 2, 2016: Pediatric Research
https://www.readbyqxmd.com/read/27633379/hirschsprung-s-disease-associated-with-alopecia-universalis-congenita-a-case-report
#17
Sushma Malik, Mani Singhal, Shruti Sudhir Jadhav, Charusheela Sujit Korday, Chitra Shivanand Nayak
BACKGROUND: Hirschsprung's disease is one of the commonest causes of intestinal obstruction in neonates because of gut motility disorder. It is characterized as a complex genetic heterogenous disorder with variable inheritance. Hirschsprung's disease occurs as an isolated phenotype in majority (70 %) of cases. In other cases it may be associated with syndromes (such as Down's syndrome, Waardenburg syndrome, congenital central hypoventilation, or cartilage-hair hypoplasia) or with a spectrum of congenital anomalies involving neurological, cardiovascular, or urological systems or with sensorineural anomalies...
September 15, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27485184/significant-phenotype-variability-of-congenital-central-hypoventilation-syndrome-in-a-family-with-polyalanine-expansion-mutation-of-the-phox2b-gene
#18
Eva Klaskova, Jiri Drabek, Milada Hobzova, Vratislav Smolka, Miroslav Seda, Jiri Hyjanek, Rastislav Slavkovsky, Jana Stranska, Martin Prochazka
BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder resulting from mutations in the PHOX2B gene located on chromosome 4p12.3, characterized by hypoventilation secondary to missing responses to both hypercapnia and hypoxia. CASE REPORT: Proband. A girl, hospitalised 5 times for respiratory failure from 6 weeks old, presented at 4 years of age severe cyanosis related to pneumonia. Tracheostomy was done, and she was discharged home using a portable positive pressure ventilator during sleep...
December 2016: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/27377324/-spanish-patients-with-central-hypoventilation-syndrome-included-in-the-european-registry-the-2015-data
#19
María Angeles García Teresa, Raquel Porto Abal, Silvia Rodríguez Torres, Diego García Urabayen, Silvia García Martínez, Ha Trang, Angel Campos Barros, Ana Llorente de la Fuente, Arturo Hernández González, Amaya Bustinza Arriortua, Jesús de la Cruz Moreno, Martí Pons Odena, Purificación Ventura Faci, Laura Rubio Ortega, Estela Pérez Ruiz, Antonio Aguilar Fernández, Amaya Pérez Ocón, Borja Osona, Isabel Delgado Pecellin, Ignacio Arroyo Carrera, Javier Sayas Catalán, Elvira González Salas, Carlos Martin de Vicente
INTRODUCTION: Congenital Central Hypoventilation Syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care. AIM: To determine the characteristics and outcomes of Spanish patients with CCHS, and detect clinical areas for improvement. MATERIALS AND METHOD: An assessment was made on the data from Spanish patients in the European Registry, updated on December 2015...
July 1, 2016: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/27340804/congenital-tonic-pupils-associated-with-congenital-central-hypoventilation-syndrome-and-hirschsprung-disease
#20
Viraj J Mehta, Joseph J Ling, Elizabeth G Martinez, Anvesh C Reddy, Sean P Donahue
Autonomic dysfunction can be associated with pupillary abnormalities. We describe a rare association of tonic pupils, congenital central hypoventilation syndrome, and Hirschsprung disease in a newborn with a mutation in the PHOX2B gene, a key regulator of neural crest cells. Hirschsprung disease is characterized by the congenital absence of neural crest-derived intrinsic ganglion cells. Tonic pupils may result from an abnormality of the ciliary ganglion, another structure of neural crest origin. The close association of these conditions in this child suggests a common abnormality in neural crest migration and differentiation...
December 2016: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
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