Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor

We have analyzed several cases of Beckwith-Wiedemann syndrome (BWS) with Wilms' tumor in a familial setting, which give insight into the complex controls of imprinting and gene expression in the chromosome 11p15 region. We describe a 2.2-kbp microdeletion in the H19/insulin-like growth factor 2 (IGF2)-imprinting center eliminating three target sites of the chromatin insulator protein CTCF that we believe here is necessary, but not sufficient, to cause BWS and Wilms' tumor. Maternal inheritance of the deletion is associated with IGF2 loss of imprinting and up-regulation of IGF2 mRNA. However, in at least one affected family member a second genetic lesion (a duplication of maternal 11p15) was identified and accompanied by a further increase in IGF2 rnRNA levels 35-fold higher than control values. Our results suggest that the combined effects of the H19//GF2-imprinting center microdeletion and 11p15 chromosome duplication were necessary for manifestation of BWS

Embracing ngā wero: A reflective journey of te Tiriti o Waitangi in health and wellbeing teaching practice

Poster presentatio

Takotsubo Cardiomyopathy a Rare but Serious Complication of Treatment of Primary Central Nervous System Diffuse Large B Cell Lymphoma

Takotsubo Cardiomyopathy (TC) is a rare, temporary non-ischemic cardiomyopathy usually triggered by emotional stress or mechanical trauma of the brain, however, it might be associated with other Central Nervous System (CNS) diseases. Affected patients present with clinical symptoms of myocardial infarction, cardiac shock that may lead to cardiac arrest. Primary CNS lymphoma is also a rare disease affecting mainly elderly patients, with poor prognosis further aggravated by patient’s performance status, comorbidities, early and late treatment related complications. Here we present a 78-year-old patient with primary CNS lymphoma who unexpectedly developed TC episode following successful chemotherapy treatment.</jats:p