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319715 occurrences (No.67 in the rank) during 5 years in the PubMed. [no cache] 500 found
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[frequency of next (right) word to due to]
319715 occurrences (No.67 in the rank) during 5 years in the PubMed. [no cache] 500 found
| 300) Out of the 19 patients with BWS due to KvDMR1 hypomethylation, 10 patients had no HH, 5 had mild transient HH that resolved spontaneously, and 4 required diazoxide therapy for up to 6 months. |
| PMID:24468603 DOI:10.1515/jpem-2013-0390 |
| 2015 Journal of pediatric endocrinology & metabolism : JPEM |
| * The heterogeneity of hyperinsulinaemic hypoglycaemia in 19 patients with Beckwith-Wiedemann syndrome due to KvDMR1 hypomethylation. |
| - Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome caused by multiple epigenetic and genetic changes affecting imprinted genes on chromosome 11p15.5. Hypomethylation of KvDMR1 on the maternal allele is the most common genetic cause, and hyperinsulinaemic hypoglycaemia (HH) is the most common biochemical abnormality. We evaluated the correlation between severity of HH and degree of hypomethylation in BWS. Out of the 19 patients with BWS due to KvDMR1 hypomethylation, 10 patients had no HH, 5 had mild transient HH that resolved spontaneously, and 4 required diazoxide therapy for up to 6 months. There was no correlation between the degree of KvDMR1 hypomethylation and severity of HH in the 6 patients studied. All patients also showed marked clinical heterogeneity with respect to the features of BWS. In patients with BWS due to hypomethylation of KvDMR1, the clinical presentation of HH is quite heterogeneous with no correlation with the degree of KvDMR1 hypomethylation. |
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