WordNet

present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate

PrepTutorEJDIC

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

An incidental finding of congenital methaemoglobinaemia in a patient with an allergy.

Kumara KG, Suganthan S, Kumanan T.SourceUniversity Medical Unit, Teaching Hospital, Jaffna, Sri Lanka. ajithkumarakg@gmail.com.
The Ceylon medical journal.Ceylon Med J.2013 Jun;58(2):91-2. doi: 10.4038/cmj.v58i2.5689.
PMID 23817944

Late Diagnosis of Congenital Methemoglobinemia in an Elderly Patient During Cardiac Surgery.

Champigneulle B, Lecorre M, Bouzguenda H, Lemaire S, Ethuin F, Deleuze P, Rouquette I, Bouhemad B.SourceDepartment of Anesthesiology and Critical Care, Groupe Hospitalier Paris Saint Joseph, Paris, France.
Journal of cardiothoracic and vascular anesthesia.J Cardiothorac Vasc Anesth.2013 May 29. pii: S1053-0770(12)00641-6. doi: 10.1053/j.jvca.2012.12.010. [Epub ahead of print]
PMID 23725685

[Population frequency and age of c.806C > T mutation in CYB5R3 gene as cause of recessive congenital methemoglobinemia in Yakutia].

[No authors listed]AbstractType-1 recessive congenital methemoglobinemia (RCM) is a rare autosomal disease characterized by a deficiency of the soluble form of nicotineamide adenine dinucleotide (NADH)-cytochrome b5 reductase (b5R) and clinically manifests as cyanosis of skin and mucous membranes. In the Russian Federation, type-I RCM is widely disturbed in Yakutia due to the local founder effect. The molecular genetics cause of type-I RCM in Yakutia is mutation c.806C > T in the CYB5R3 gene. In this work we used 13 polymorphic markers, which flanking the CYB5R3 gene to establish the founder haplotype. The age of the mutation was estimated as about 285 +/- 135 years. In this work, we have evaluated the frequency of the c.806 C > T mutation in Yakutia, which averaged 55 : 1000 Yakuts. The calculated frequency of disease was 1 : 1250 Yakuts.
Genetika.Genetika.2013 Apr;49(4):523-30.
Type-1 recessive congenital methemoglobinemia (RCM) is a rare autosomal disease characterized by a deficiency of the soluble form of nicotineamide adenine dinucleotide (NADH)-cytochrome b5 reductase (b5R) and clinically manifests as cyanosis of skin and mucous membranes. In the Russian Federation, t
PMID 23866629