Publications by authors named "M D Brantley"

Mixed methods research-methodologies that synthesize qualitative and quantitative approaches in the design, collection, analysis, and dissemination of research related to a specific topic or aim-is increasingly common, offering innovative empirical insight into families and relationships. We first elaborate on our definition of mixed methods research, emphasizing that there is significant heterogeneity within mixed methods approaches to studying families and relationships. Second, we discuss benefits of mixed methods projects within family and relationship research, including theory-building and innovation.

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Alpha-1 antitrypsin (AAT) deficiency is an autosomal codominant disorder caused by gene mutations. PI*Z and PI*S mutations commonly underlie this deficiency, but rarer homozygous PI* (Q0) mutations may result in a complete loss of AAT. Such rare mutations lead to severe AAT deficiency and early onset of lung disease.

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  • The study aimed to create and validate algorithms that can effectively identify cases of diabetic retinopathy (DR) from electronic health records (EHRs) across three different healthcare systems.
  • The algorithms were assessed based on specific criteria for identifying DR cases and diabetes controls, yielding high positive and negative predictive values (PPV and NPV) across the different systems tested.
  • Results showed that while the algorithms performed well overall, there were some variances in their effectiveness, especially when comparing different healthcare systems, highlighting the need for further validation to enhance their reliability.
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  • Diabetes complications, like retinopathy and neuropathy, occur more frequently in individuals of African ancestry, partly due to G6PD deficiency which is associated with malaria resistance and lowers HbA1c levels by affecting red blood cell lifespan.
  • A study discovered a specific variant (rs1050828-T) linked to G6PD deficiency that increases the risk of diabetes complications, showing that glucose levels influence retinopathy risk significantly.
  • The findings suggest that adjusting diabetes management based on glucose levels or genetic factors could improve diagnosis and treatment, potentially reducing complications for those with G6PD deficiency.
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Chinese hamster ovary (CHO) cells require cysteine for growth and productivity in fed-batch cultures. In intensified processes, supplementation of cysteine at high concentrations is a challenge due to its limited solubility and instability in solution. Methionine can be converted to cysteine (CYS) but key enzymes, cystathionine beta-synthase (Cbs) and cystathionine gamma-lyase (Cth), are not active in CHO cells resulting in accumulation of an intermediate, homocysteine (HCY), in cell culture milieu.

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