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Articles by M Williams
Total Records ( 2 ) for M Williams
  A Taylor , G Bayly , K Patel , L Yarram , M Williams , J Hamilton Shield , S. E Humphries and G. Norbury
 

Autosomal dominant hypercholesterolaemia is genetically heterogeneous, but most commonly (~93%) caused by mutations in low-density lipoprotein receptor (LDLR), where the disease is known as familial hypercholesterolaemia (FH), or apolipoprotein B-100 (APOB) (~5.5%), where the disease is known as familial defective APOB (FDB), while in ~2% of patients the mutation is in the proprotein convertase subtilisin/kexin type 9 gene. Homozygous FH having inheritance of two LDLR mutations is a rare but recognized syndrome associated with an extreme hypercholesterolaemia and early-onset coronary artery disease. We present a 15-year-old girl with untreated total cholesterol levels of 8.8 mmol/L who was heterozygous for both the LDLR p.Leu479Pro and APOB p.Arg3527Gln mutation. Cascade testing confirmed the paternal origin of the LDLR mutation and revealed a maternal diagnosis of FDB. This case provides further evidence that the combined effect of an LDLR and an APOB mutation give rise to a phenotype more severe than either mutation alone and is more severe than homozygous FDB, but less severe than homozygous FH. It also highlights the need to consider the presence of additional mutations in families where relatives have varying phenotypes.

  Z Faridi , K Shuval , V. Y Njike , J. A Katz , G Jennings , M Williams , D. L Katz and The PREDICT Project Working Group
 

Type 2 diabetes is epidemic in the United States with greater incidence rates in African-American communities. Lifestyle interventions during the phase of insulin resistance mitigate cardiovascular risk and prevent diabetes. The primary aim of this study is to test the impact of a Community Health Advisor (CHA)-based diabetes prevention controlled intervention in urban African-American communities. In this controlled trial, church congregants in New Haven, CT, receiving a 1-year CHA-led diabetes prevention intervention were compared with church congregants in Bridgeport, CT, who did not receive an intervention. Outcome measures included physical activity, dietary pattern, anthropometric measure, social support, diabetes knowledge, nutrition and exercise self-efficacy. The results indicate that at the end of the 1-year intervention period, there were no significant differences observed between intervention and control groups. Possible explanations for the lack of change include difficulty in engaging the CHAs, variability in the CHA-led interventions, baseline discrepancies between the two sites which could not be fully controlled and loss to follow-up. The results indicate important obstacles which impeded the successful implementation of this intervention and lessons learned for future interventions.

 
 
 
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