Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours
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منابع مشابه
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours
BACKGROUND Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) is thought to be a genetic disease caused by de novo mutations, though causative mutations have yet to be identified. We searched for de novo coding mutations among a carefully-diagnosed and clinically homogeneous cohort of 35 ROHHAD patients. METHODS We sequenced the exomes of ...
متن کاملrapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (rohhad) syndrome: a case report
introduction rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (rohhad) is a rare disease. to date, there have been only few reported cases of rohhad syndrome. conclusions only a few case reports have described rohhad syndrome, and it is therefore difficult to manage. in children with rapid and early-onset obesity associated with hypothalamic-pituit...
متن کاملNocturnal Anxiety in a Youth with Rapid-onset Obesity, Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD).
OBJECTIVE Behavioral and psychiatric disorders are common in youth with rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD). We outline a rational approach to psychiatric treatment of a patient with a complex medical condition. METHODS We report the course of symptoms in a teen with ROHHAD, the inpatient treatment, and review current eviden...
متن کاملCommentary: Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): Remember Your ABCs (Airway, Breathing, Circulation).
Corresponding E-Mail: [email protected] Clinical Perspectives R Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) is a devastating disorder that manifests in seemingly normal children, most typically between two and nine years of age. Because of the unique constellation of symptoms comprising the ROHHAD phenotype and inadequate public and...
متن کاملRapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation in Saudi Arabia
Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare disease, but could be fatal if not diagnosed early. It mimics many other diseases and it may take few years after the onset of rapid obesity to have the other clinical features. Therefore, any patient with rapid-onset obesity after the age of 2 years should have high index of suspicion...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2015
ISSN: 1750-1172
DOI: 10.1186/s13023-015-0314-x