Publications by authors named "C M Cunniff"
Background: Bloom Syndrome (BSyn) is an autosomal recessive disorder caused by biallelic germline variants in which functions to maintain genomic stability. BSyn patients have poor growth, immune defects, insulin resistance, and a significantly increased risk of malignancies, most commonly hematologic. The malignancy risk in carriers of pathogenic variants in ( variant carriers) remains understudied.
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- Bloom syndrome (BSyn) is an autosomal recessive disorder linked to variants in the BLM gene, leading to issues like poor growth, sun sensitivity, diabetes, mild immunodeficiency, and an increased cancer risk, particularly for leukemias.
- Unlike typical aging, BSyn patients show no signs of premature aging like hair loss or cataracts, prompting research into their epigenetic age as a health indicator.
- The findings reveal that BSyn patients have accelerated epigenetic aging in blood lymphocytes and that homozygous Blm mice show similar aging markers in various tissues, indicating a significant impact on CpG methylation levels and overall aging effects.
A 12-day-old, full-term female, born small for gestational age, presented to the emergency department with a 1-week history of worsening hyperbilirubinemia, intermittent hypoglycemia, and episodic hypothermia. The baby's emergency department evaluation revealed transaminitis, pneumatosis intestinalis, indirect hyperbilirubinemia, and hypoglycemia. She was admitted to the ICU and received intravenous glucose, bowel rest, and phototherapy.
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