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"Sanchez, Janine"
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Influence of Vitamin D on Islet Autoimmunity and Beta-Cell Function in Type 1 Diabetes
2019
Type 1 diabetes (T1D) is a chronic autoimmune disease leading to immune-mediated destruction of pancreatic beta cells, resulting in the need for insulin therapy. The incidence of T1D is increasing worldwide, thus prompting researchers to investigate novel immunomodulatory strategies to halt autoimmunity and modify disease progression. T1D is considered as a multifactorial disease, in which genetic predisposition and environmental factors interact to promote the triggering of autoimmune responses against beta cells. Over the last decades, it has become clear that vitamin D exerts anti-inflammatory and immunomodulatory effects, apart from its well-established role in the regulation of calcium homeostasis and bone metabolism. Importantly, the global incidence of vitamin D deficiency is also dramatically increasing and epidemiologic evidence suggests an involvement of vitamin D deficiency in T1D pathogenesis. Polymorphisms in genes critical for vitamin D metabolism have also been shown to modulate the risk of T1D. Moreover, several studies have investigated the role of vitamin D (in different doses and formulations) as a potential adjuvant immunomodulatory therapy in patients with new-onset and established T1D. This review aims to present the current knowledge on the immunomodulatory effects of vitamin D and summarize the clinical interventional studies investigating its use for prevention or treatment of T1D.
Journal Article
Sedentary behavior moderates the relationship between physical activity and cardiometabolic risk in young Latino children
by
Coto, Jennifer
,
Goldberg, Ronald B
,
Malik, Jamil A
in
Cardiovascular diseases
,
Demographic aspects
,
Exercise
2021
Abstract
This study investigated the role of objectively measured moderate–vigorous physical activity (MVPA) and sedentary behavior on cardiometabolic risk factors of young Latino children. We hypothesized that MVPA would be associated with lower cardiometabolic risk when sedentary behavior is low. We studied 86 primarily low-income, Latino children using a cross-sectional study design. The study sample consisted of 51 girls and 35 boys, with mean age 5.6 (SD = .53) years. Physical activity was measured by accelerometry, anthropometric measures obtained, and fasting blood samples were used to measure cardiometabolic risk factors. Greater levels of sedentary behavior were associated with increased waist circumference (rs = .24, p < .05) and metabolic risks. MVPA, however, had significant beneficial associations with all cardiometabolic risk factors (rs-range = −.20 to −.45, p < .05) with the exception of plasma insulin. MVPA predicted latent variables representing anthropometric risk (β = −.57, p < .01), cardiac risk (β = −.74, p < .01), and metabolic risk (β = −.88, p < .01). Sedentary behavior significantly moderated the effect of MVPA on anthropometric (β-interaction = .49, p < .01), cardiac (β-interaction = .45, p < .01), and metabolic risk (β-interaction = .77, p < .01), such that more MVPA was associated with better health outcomes under conditions of lower sedentary behavior. The model explained 13%, 22%, and 45% variance in anthropometric, cardiac, and metabolic risk factors, respectively. Increased MVPA is associated with decreased cardiometabolic risk in young Latino children, particularly when sedentary behavior is low.
Lay Summary
This study investigated the role of objectively measured moderate-vigorous physical activity (MVPA) and sedentary behavior on cardiometabolic risk factors of young Latino children. We found that sedentary behavior significantly moderated the effect of MVPA on cardiometabolic risk, such that more MVPA was associated with better health outcomes under conditions of lower sedentary behavior.
Journal Article
Pediatric cardiomyopathies: causes, epidemiology, clinical course, preventive strategies and therapies
by
Miller, Tracie L
,
Carrillo, Adriana A
,
Briston, David A
in
Cardiomyopathy
,
Care and treatment
,
Demographic aspects
2013
Pediatric cardiomyopathies, which are rare but serious disorders of the muscles of the heart, affect at least one in every 100,000 children in the USA. Approximately 40% of children with symptomatic cardiomyopathy undergo heart transplantation or die from cardiac complications within 2 years. However, a significant number of children suffering from cardiomyopathy are surviving into adulthood, making it an important chronic illness for both pediatric and adult clinicians to understand. The natural history, risk factors, prevalence and incidence of this pediatric condition were not fully understood before the 1990s. Questions regarding optimal diagnostic, prognostic and treatment methods remain. Children require long-term follow-up into adulthood in order to identify the factors associated with best clinical practice including diagnostic approaches, as well as optimal treatment approaches. In this article, we comprehensively review current research on various presentations of this disease, along with current knowledge about their causes, treatments and clinical outcomes.
Journal Article
PMON187 Worsening Hypertriglyceridemia in an Adolescent Female with Type 1 Diabetes Mellitus despite Improvement in Glucose Control
2022
Background Chylomicronemia syndrome with severe hypertriglyceridemia may be the result of genetic abnormalities, aggravating factors or a combination of both. Clinical case The patient is a 17-year-old overweight female (BMI of 90th percentile) with a history of type 1 diabetes mellitus (T1D) for eleven years, PCOS, vitamin D deficiency and hypertriglyceridemia. Her father has a history of hypertriglyceridemia that improves with dietary modifications. Her mother and younger sister (who also has T1D) have normal serum lipid levels. Although the patient has a history of poor compliance (HbA1c ranging between 9-11%), glucose control had been improving (HbA1c most recently between 8.1-8.6%). Her serum triglyceride level had been slightly abnormal for the past few years (200-300 mg/dL; normal range: < 90 mg/dL) and had increased to 413 mg/dL, despite the improvement in glucose control. She subsequently started taking omega-3, 1000 mg daily. At that time, she also began treatment with combined oral contraceptives (COCs) for PCOS. The serum triglyceride level three months later increased to 1,322 mg/dL. She consistently denied alcohol or recreational drug use. The omega-3 dose was increased to 4 gm daily. Atorvastatin 10 mg daily was also started and COCs were discontinued. Three weeks later, a repeat triglyceride level was found to be 2,813 mg/dL. Fenofibrate 160 mg daily was added. Atorvastatin was discontinued and she began a low-fat diet. After further questioning, patient admitted to heavy alcohol intake during the weekends. She reported specifically drinking grain alcohols to avoid carbohydrates. Three weeks after cessation of alcohol, her triglyceride level declined to 302 mg/dL. Clinical lesson: This patient had multiple risk factors for chylomicronemia syndrome including poorly controlled T1D, overweight and estrogen containing contraceptive therapy. Although alcohol abuse was a problem at the time hypertriglyceridemia worsened, the history of excessive alcohol consumption was not given until many other treatments had been initiated. This case highlights the importance of screening for alcohol abuse in patients with hypertriglyceridemia who do not respond to standard therapies, especially in adolescent patients who may be reticent about discussing alcohol abuse with their physicians. Presentation: Monday, June 13, 2022 12:30 p.m. - 2:30 p.m.
Journal Article
Inequities in Diabetic Ketoacidosis Among Patients With Type 1 Diabetes and COVID-19: Data From 52 US Clinical Centers
by
Sumpter, Kathryn M
,
Lyons, Sarah K
,
DeSalvo, Daniel
in
Adolescent
,
Adult
,
African Americans - statistics & numerical data
2021
Abstract
Objective
We examined whether diabetic ketoacidosis (DKA), a serious complication of type 1 diabetes (T1D) was more prevalent among Non-Hispanic (NH) Black and Hispanic patients with T1D and laboratory-confirmed coronavirus disease 2019 (COVID-19) compared with NH Whites.
Method
This is a cross-sectional study of patients with T1D and laboratory-confirmed COVID-19 from 52 clinical sites in the United States, data were collected from April to August 2020. We examined the distribution of patient factors and DKA events across NH White, NH Black, and Hispanic race/ethnicity groups. Multivariable logistic regression analysis was performed to examine the odds of DKA among NH Black and Hispanic patients with T1D as compared with NH White patients, adjusting for potential confounders, such as age, sex, insurance, and last glycated hemoglobin A1c (HbA1c) level.
Results
We included 180 patients with T1D and laboratory-confirmed COVID-19 in the analysis. Forty-four percent (n = 79) were NH White, 31% (n = 55) NH Black, 26% (n = 46) Hispanic. NH Blacks and Hispanics had higher median HbA1c than Whites (%-points [IQR]: 11.7 [4.7], P < 0.001, and 9.7 [3.1] vs 8.3 [2.4], P = 0.01, respectively). We found that more NH Black and Hispanic presented with DKA compared to Whites (55% and 33% vs 13%, P < 0.001 and P = 0.008, respectively). After adjusting for potential confounders, NH Black patients continued to have greater odds of presenting with DKA compared with NH Whites (OR [95% CI]: 3.7 [1.4, 10.6]).
Conclusion
We found that among T1D patients with COVID-19 infection, NH Black patients were more likely to present in DKA compared with NH White patients. Our findings demonstrate additional risk among NH Black patients with T1D and COVID-19.
Journal Article
Transitioning to Telehealth Services in a Pediatric Diabetes Clinic During COVID-19: An Interdisciplinary Quality Improvement Initiative
2022
COVID-19 necessitated a rapid shift to telehealth for psychologists offering consultation-liaison services in pediatric medical settings. However, little is known about how psychologists providing these services adapted to using telehealth service delivery formats. This report details how our interdisciplinary team identified declining psychosocial screener completion and psychology consultation rates as primary challenges following a shift to telehealth within a pediatric diabetes clinic. We utilized the Plan-Do-Study-Act (PDSA) quality improvement framework to improve screening and consultation rates, which initially declined during the telehealth transition. Screening and consultation rates dropped initially, but recovered to nearly pre-pandemic levels following three PDSA intervention cycles. During implementation, challenges arose related to the feasibility of patient interactions, interdisciplinary collaboration, patient engagement, and ethical issues. Clinics shifting psychology consultation-liaison services to telehealth should prioritize interdisciplinary communication, elicit perspectives from all clinic professionals, leverage the electronic health record, and develop procedures for warm handoffs and navigating ethical issues.
Journal Article
Diabetes Care and Mental Health During the COVID-19 Pandemic: Perspectives of Adolescents with Diabetes, Parents, and Providers
2025
This study explored ways in which the COVID-19 pandemic impacted adolescents’ diabetes management and psychosocial functioning, and how adolescents, parents, and providers viewed telemedicine. We present data from three studies: (1) a comparison of psychosocial functioning and glycemic levels before and after pandemic onset (
n
= 120 adolescents; 89% with type 1 diabetes), (2) an online survey of parents about pandemic-related stressors (
n
= 141), and (3) qualitative interviews with adolescents, parents, and medical providers about the pandemic’s impacts on adolescents’ diabetes care and mental health (
n
= 13 parent–adolescent dyads; 7 medical providers). Results suggested some adverse effects, including disrupting routines related to health behaviors and psychosocial functioning and impairing adolescents’ quality of life. Despite these challenges, most participants did not endorse significant impacts. Some even noted benefits, such as increased parental supervision of diabetes management that can be leveraged beyond the pandemic. Furthermore, telemedicine offers benefits to continuity of diabetes care but presents challenges to care quality. These findings underscore the varied and unique impacts of the COVID-19 pandemic on adolescents with diabetes.
Journal Article
Comprehensive psychosocial screening in a pediatric diabetes clinic
by
Sanchez, Janine
,
Delamater, Alan M.
,
Davis, Eileen M.
in
adherence
,
Adolescent
,
Adolescent Health Services
2021
Objective The ISPAD recommends routine, comprehensive psychosocial screening for adolescents with diabetes. However, few clinics have implemented procedures consistent with these guidelines. This study describes the results of a universal, comprehensive psychosocial screening program in an integrated pediatric diabetes clinic located within an academic medical center. Research Design and Methods Participants included 232 ethnically diverse adolescents with type 1 diabetes (55.5% female; M age = 14.85; 58.5% Hispanic; 20% Black). Adolescents completed screening measures on iPads in the waiting room before their medical visit. The proportion of adolescents screening positive on each psychosocial measure was assessed, and regression analyses evaluated how psychosocial variables accounted for variance in insulin non‐adherence and glycemic control (measured by A1c). Results Psychosocial concerns were common and ranged from 7% of adolescents screening positive for disordered eating and suicide risk to 52% screening positive for low motivation to manage diabetes. A1c and insulin non‐adherence were positively correlated with suicide risk, depressive symptoms, anxiety, disordered eating, diabetes stress, blood glucose monitoring stress, family conflict, and total number of elevations, and negatively correlated with intrinsic motivation. Insulin non‐adherence, disordered eating, diabetes stress, and family conflict uniquely predicted A1c. Age, motivation, and family conflict uniquely predicted insulin non‐adherence. Eighty‐three percent of eligible youth completed the screener. Referrals by physicians to the team psychologist increased by 25% after the screening program was implemented. Conclusions Comprehensive psychosocial screening can be effectively implemented as part of routine pediatric diabetes care and can identify adolescents in need of additional supports.
Journal Article
25(OH) Vitamin D Levels and Severity of Type 1 Diabetes in Youth and Adults With Recent-Onset Disease
2025
To test 25-hydroxy vitamin D (25(OH)D) levels among subjects with new-onset type 1 diabetes (T1D) and their association with fasting and stimulated C-peptide at study entry in an open-label randomized trial.
We conducted a post hoc secondary analysis of the POSEIDON trial (a Pilot, Safety and Feasibility Trial of High-Dose Omega-3 fatty acids and High-Dose Cholecalciferol Supplementation in Type 1 Diabetes). Eligibility criteria included age 6 to 65 years, T1D of up to 10 years duration, presence of at least 1 islet autoantibody, and stimulated C-peptide ≥0.066 pmol/mL. A total of 18 subjects with new-onset T1D (defined as ≤180 days duration) with paired 25(OH)D levels and a 4-hour mixed meal tolerance test (MMTT) at screening were included.
25(OH)D levels were directly associated with fasting C-peptide (
= 0.589; 95% CI 0.154-0.833;
= .01) but no significant associations were found with MMTT stimulated C-peptide. Ten subjects had 25(OH)D levels <30 ng/mL (56%) and fasting C-peptide was significantly lower compared to those with 25(OH)D levels >30 ng/mL (0.22 ± 0.14 vs 0.41 ± 0.09 pmol/mL;
< .006).
25(OH)D levels were directly associated with fasting C-peptide in youth and adults with newly diagnosed T1D. Low 25(OH)D levels may be associated with more aggressive autoimmunity in patients at risk for T1D potentially leading to a lower beta-cell mass at T1D clinical onset, but larger studies are required to validate these results.
Journal Article
SUN-129 Early Onset Of MODY 5 Due To The Haploinsufficency HNF1B Gene As Part Of 17q12 Deletion
by
Sanchez, Janine
,
Ukarapong, Supamit
,
Bustamante Escobar, Carmen
in
Diabetes Mellitus and Glucose Metabolism
2019
The 1.4 MB deletion in the 17q12 region causes a contiguous gene syndrome, which was recently named 17q12 Deletion Syndrome. This region encompasses the Hepatocyte Nuclear Factor 1ß gene (HNF1ß), which plays an important role in the formation of kidneys, pancreas, liver, brain and genital tract. The deletion of HNF1ß causes variable manifestations including dysplastic or cystic renal disease, MODY 5, pancreatic and urogenital malformations, hepatopathy, and neurological disorders. MODY 5 has been described in about 80% of the patients with this deletion, but less than 5% of patients are diagnosed before 10 years of age. We herein present two patients with MODY 5 due to the deletion of 17q12 whose hyperglycemia developed within 3 years of age. The first patient was diagnosed with multi-cystic dysplastic kidneys and urogenital malformations soon after birth. Microarray, obtained as part of the investigations to determine a genetic cause, revealed a heterozygous microdeletion of 17q12 region which includes HNF1ß gene region. At three years of age, his random glucose was abnormal (204 mg/dl) and HgbA1C was then obtained. The result indicated abnormal HgbA1C level of 6.6%. Pancreatic autoantibodies, GAD65, IA-2 and Insulin autoantibodies, were negative. His fasting C-peptide was also normal (2.37 ng/ml), and diagnosis of MODY 5 was than given. He currently has chronic kidney disease stage 5. However, his HgbA1C normalized (5.5%) with diet management alone. The second patient presented at 18 months of age with hyperglycemia, which was discovered during his acute respiratory illness. HgbA1C was elevated (6.2%), and the subsequent repeat tests showed similar results. He has also a global developmental delay, and was evaluated by a neurologist who requested a microarray to determine a genetic cause of his developmental delay. The result showed a heterozygous microdeletion in the similar region encompassing HNF1ß gene. Pancreatic autoantibodies were negative.Renal ultrasound was obtained to determine the presence of renal malformations, and the result indicated bilateral dysplastic kidneys. However, his renal function remains normal to date. Even though his HgbA1C was still below the diabetic cutoff point, the combinations of hyperglycemia, dysplastic kidneys and developmental delay were consistent with 17q12 Deletion Syndrome. His HgbA1C also normalized with diet management. Our report, to the best of our knowledge, presents the earliest manifestation of abnormal glucose homeostasis in patients with HNF1ß gene deletion. We, henceforth, suggest that the screening of hyperglycemia be done in pediatric patients with cystic dysplastic kidneys to aid the timely diagnosis of MODY5.
Journal Article