Search Results - "NAYLOR, Rochelle N"
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The Impact of Biomarker Screening and Cascade Genetic Testing on the Cost-Effectiveness of MODY Genetic Testing
Published in Diabetes care (01-12-2019)“…In the U.S., genetic testing for maturity-onset diabetes of the young (MODY) is frequently delayed because of difficulty with insurance coverage. Understanding…”
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Diabetes Presentation in Infancy: High Risk of Diabetic Ketoacidosis
Published in Diabetes care (01-10-2017)“…Diabetes in childhood has been associated with increased morbidity and mortality, but the risks for diabetes in infancy remain unclear. Cases with onset of…”
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Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11-related neonatal diabetes
Published in Diabetologia (01-07-2015)“…Aims/hypothesis Individuals with heterozygous activating mutations of the KCNJ11 gene encoding a subunit of the ATP-sensitive potassium channel (KATP) can…”
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GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated
Published in Acta diabetologica (01-10-2016)“…Aims GCK-MODY leads to mildly elevated blood glucose typically not requiring therapy. It has been described in all ethnicities, but mainly in Caucasian…”
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GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants
Published in Diabetes research and clinical practice (01-05-2019)“…We report on 134 unique GCK variants in 217 families, including 27 unpublished variants, identified in the US Monogenic Diabetes Registry in the last decade…”
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Sulfonylurea Treatment Before Genetic Testing in Neonatal Diabetes: Pros and Cons
Published in The journal of clinical endocrinology and metabolism (01-12-2014)“…Context: Diabetes in neonates nearly always has a monogenic etiology. Earlier sulfonylurea therapy can improve glycemic control and potential…”
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Investigator and participant expectations for returning non-genetic results: insights from the Rare and Atypical Diabetes Network (RADIANT) study
Published in Journal of clinical and translational science (2023)“…The Rare and Atypical DIAbetes NeTwork (RADIANT) aims to discover the underlying pathoetiology of atypical diabetes by conducting both genotyping and…”
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Enrollment of underrepresented racial and ethnic groups in the Rare and Atypical Diabetes Network (RADIANT)
Published in Journal of clinical and translational science (2023)“…Diabetes mellitus in underrepresented racial and ethnic groups (URG) is rapidly increasing in incidence and has worse outcomes than diabetes in non-Hispanic…”
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Genetics and pathophysiology of neonatal diabetes mellitus
Published in Journal of diabetes investigation (01-06-2011)“…Neonatal diabetes mellitus (NDM) is the term commonly used to describe diabetes with onset before 6 months‐of‐age. It occurs in approximately one out of every…”
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Clinical Management of Women with Monogenic Diabetes During Pregnancy
Published in Current diabetes reports (01-03-2018)“…Purpose of Review Monogenic diabetes accounts for 1–2% of all diabetes cases, but is frequently misdiagnosed as type 1, type 2, or gestational diabetes…”
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1035-P: Area Deprivation Index and Rates of Specialty Care in Monogenic Diabetes Registry Participants
Published in Diabetes (New York, N.Y.) (20-06-2023)“…While diabetes is one of the most common chronic medical conditions, monogenic forms of diabetes represent a rare subtype, and face barriers to timely…”
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Diagnosis, treatment and disclosure: A qualitative exploration of participant challenges in a Monogenic Diabetes Registry
Published in Genetics in medicine (01-04-2023)“…Maturity-onset diabetes of the young (MODY) represents a heterogenous group of monogenic diabetes. Despite its autosomal dominant inheritance, many MODY…”
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Objective and Subjective Sleep Patterns in Adults With Maturity-Onset Diabetes of the Young (MODY)
Published in Diabetes care (01-03-2023)“…To examine sleep patterns in adults with maturity-onset diabetes of the young (MODY). Adults with glucokinase (GCK)-MODY and transcription factor (TF)-related…”
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Cost-Effectiveness of MODY Genetic Testing: Translating Genomic Advances Into Practical Health Applications
Published in Diabetes care (01-01-2014)“…OBJECTIVE To evaluate the cost-effectiveness of a genetic testing policy for HNF1A-, HNF4A-, and GCK-MODY in a hypothetical cohort of type 2 diabetic patients…”
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Individualized Glycemic Control for U.S. Adults With Type 2 Diabetes: A Cost-Effectiveness Analysis
Published in Annals of internal medicine (06-02-2018)“…Intensive glycemic control in type 2 diabetes (glycated hemoglobin [HbA1c] level <7%) is an established, cost-effective standard of care. However, guidelines…”
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1116-P: Enrollment of Racial/Ethnic Minorities in the Rare and Atypical Diabetes Network (RADIANT)
Published in Diabetes (New York, N.Y.) (01-06-2022)“…RADIANT is an NIH study of people with uncharacterized forms of atypical diabetes mellitus (DM) in the US. RADIANT participants consent online and progress…”
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Pediatric Monogenic Diabetes: A Unique Challenge and Opportunity
Published in Pediatric annals (01-08-2019)“…Monogenic diabetes affects approximately 120,000 people in the United States but continues to be misdiagnosed. Within the pediatric population, 1% to 3% of…”
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Iatrogenic Hyperinsulinemia, Not Hyperglycemia, Drives Insulin Resistance in Type 1 Diabetes as Revealed by Comparison With GCK-MODY (MODY2)
Published in Diabetes (New York, N.Y.) (01-08-2019)“…Although insulin resistance consistently occurs with type 1 diabetes, its predominant driver is uncertain. We therefore determined the relative contributions…”
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127-LB: Characteristics of INS-MODY Participants in a National Diabetes Registry
Published in Diabetes (New York, N.Y.) (01-06-2020)“…Introduction: Maturity onset diabetes of the young (MODY) may represent 2-5% of diabetes under 30-35 years. Rarely MODY may be due to mutation in the INS gene…”
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Management and pregnancy outcomes of women with GCK-MODY enrolled in the US Monogenic Diabetes Registry
Published in Acta diabetologica (01-04-2019)“…Aims GCK-MODY is characterized by mild hyperglycemia. Treatment is not required outside of pregnancy. During pregnancy, insulin treatment is recommended if…”
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