Quantitative pedigree analysis and mitochondrial DNA sequence variants in adults with cyclic vomiting syndrome
نویسندگان
چکیده
منابع مشابه
Quantitative pedigree analysis and mitochondrial DNA sequence variants in adults with cyclic vomiting syndrome
BACKGROUND Children with cyclic vomiting syndrome (CVS) have a high degree of maternal inheritance of functional gastrointestinal and neurological disorders. CVS in children is also associated with an increased prevalence of mitochondrial DNA single-nucleotide polymorphisms (mtDNA SNPs) 16519 T and 3010A. Preliminary data suggests that age of onset of symptoms (pediatric vs. adult) may be a det...
متن کاملCyclic vomiting syndrome in adults.
Cyclic vomiting syndrome (CVS) was initially described in children but can occur in all age groups. Cyclic vomiting syndrome is increasingly recognized in adults. However, the lack of awareness of CVS in adults has led to small numbers of diagnosed patients and a paucity of published data on the causes, diagnosis and management of CVS in adults. This article is a state-of-knowledge overview on ...
متن کاملMultiplex analysis of mitochondrial DNA pathogenic and polymorphic sequence variants.
The mitochondrial DNA (mtDNA) encompasses two classes of functionally important sequence variants: recent pathogenic mutations and ancient adaptive polymorphisms. To rapidly and cheaply evaluate both classes of single nucleotide variants (SNVs), we have developed an integrated system in which mtDNA SNVs are analyzed by multiplex primer extension using the SNaPshot system. A multiplex PCR amplif...
متن کاملCyclic Vomiting Syndrome
Obscure gastrointestinal bleeding constitutes approximately fi ve percent of all gastrointestinal bleeding cases. Patients with this condition are often diffi cult to diagnose and frequently undergo extensive GI testing. This is no news item to all gastrointestinal specialists. The following cases highlight several different presentation scenarios, the long road to correct diagnosis, and some i...
متن کاملMitochondrial disorder caused Charles Darwin’s cyclic vomiting syndrome
BACKGROUND Charles Darwin (CD), "father of modern biology," suffered from multisystem illness from early adulthood. The most disabling manifestation was cyclic vomiting syndrome (CVS). This study aims at finding the possible cause of CVS in CD. METHODS A literature search using the PubMed database was carried out, and CD's complaints, as reported in his personal writings and those of his rela...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: BMC Gastroenterology
سال: 2014
ISSN: 1471-230X
DOI: 10.1186/1471-230x-14-181