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Aguirre Castaneda R.,Illinois College | Wallace J.,Sanford Childrens Hospital | Singh R.,Mayo Medical School | Weaver A.,Mayo Medical School | Kumar S.,Mayo Medical School
Hormone Research in Paediatrics | Year: 2014

Background/Aims: To determine the effect of vitamin D3 supplementation on 25-hydroxyvitamin D [25(OH)D], lipid profile and markers of insulin resistance in obese adolescents. Methods: In this double-blind, randomized, placebo-controlled trial, 58 obese adolescents (n = 58; 12-18 years of age) received either vitamin D3 (2,000 IU/day) or placebo for 12 weeks. Total 25(OH)D, fasting plasma glucose, insulin and lipid profile were measured at baseline and following supplementation. Results: The trial was completed by 44/58 enrolled participants. At the end of the 12 weeks, total serum 25(OH)D concentrations increased to a modest degree (median 6 ng/ml) in the vitamin D-supplemented group (p < 0.001). Supplementation showed no detectable changes in fasting plasma glucose, insulin, homeostatic model of assessment index (HOMA-IR), lipids and highly sensitive C-reactive protein. Conclusions: 12 weeks of vitamin D3 supplementation in obese adolescents with 2,000 IU once daily resulted in a modest increase in 25(OH)D concentration in obese adolescents, but did not affect the lipid profile and markers of insulin resistance and inflammation. Further studies with higher doses of vitamin D3 and/or longer duration of supplementation are needed to understand if vitamin D3 supplementation can impact lipid profiles and markers of insulin resistance and inflammation in obese children. © 2014 S. Karger AG, Basel.


PubMed | NYS Institute for Basic Research in Developmental Disabilities, Sanford Childrens Hospital, Texas Childrens Hospital, Institute of Genetic Medicine and Baylor College of Medicine
Type: | Journal: Genetics in medicine : official journal of the American College of Medical Genetics | Year: 2016

To investigate the utility of whole-exome sequencing (WES) to define a molecular diagnosis for patients clinically diagnosed with congenital anomalies of kidney and urinary tract (CAKUT).WES was performed in 62 families with CAKUT. WES data were analyzed for single-nucleotide variants (SNVs) in 35 known CAKUT genes, putatively deleterious sequence changes in new candidate genes, and potentially disease-associated copy-number variants (CNVs).In approximately 5% of families, pathogenic SNVs were identified in PAX2, HNF1B, and EYA1. Observed phenotypes in these families expand the current understanding about the role of these genes in CAKUT. Four pathogenic CNVs were also identified using two CNV detection tools. In addition, we found one deleterious de novo SNV in FOXP1 among the 62 families with CAKUT. The clinical database of the Baylor Miraca Genetics laboratory was queried and seven additional unrelated individuals with novel de novo SNVs in FOXP1 were identified. Six of these eight individuals with FOXP1 SNVs have syndromic urinary tract defects, implicating this gene in urinary tract development.We conclude that WES can be used to identify molecular etiology (SNVs, CNVs) in a subset of individuals with CAKUT. WES can also help identify novel CAKUT genes.Genet Med advance online publication 22 September 2016Genetics in Medicine (2016); doi:10.1038/gim.2016.131.


Boelens J.J.,Wilhelmina Childrens Hospital | Prasad V.K.,Duke University | Tolar J.,University of Minnesota | Wynn R.F.,Royal Manchester Childrens Hospital | And 2 more authors.
Pediatric Clinics of North America | Year: 2010

Inherited metabolic disorders (IMD) or inborn errors of metabolism are a diverse group of diseases arising from genetic defects in lysosomal enzymes or peroxisomal function. These diseases are characterized by devastating systemic processes affecting neurologic and cognitive function, growth and development, and cardiopulmonary status. Onset in infancy or early childhood is typically accompanied by rapid deterioration. Early death is a common outcome. Timely diagnosis and immediate referral to an IMD specialist are essential steps in management of these disorders. Treatment recommendations are based on the disorder, its phenotype including age at onset and rate of progression, severity of clinical signs and symptoms, family values and expectations, and the risks and benefits associated with available therapies such as allogeneic hematopoietic stem cell transplantation (HSCT). This review discusses indications for HSCT and outcomes of HSCT for selected IMD. An international perspective on progress, limitations, and future directions in the field is provided. © 2010 Elsevier Inc.


Mdaki K.S.,Childrens Health Research Center | Larsen T.D.,Childrens Health Research Center | Wachal A.L.,Childrens Health Research Center | Schimelpfenig M.D.,University of South Dakota | And 6 more authors.
American Journal of Physiology - Heart and Circulatory Physiology | Year: 2016

Offspring of diabetic pregnancies are at risk of cardiovascular disease at birth and throughout life, purportedly through fuel-mediated influences on the developing heart. Preventative measures focus on glycemic control, but the contribution of additional offenders, including lipids, is not understood. Cellular bioenergetics can be influenced by both diabetes and hyperlipidemia and play a pivotal role in the pathophysiology of adult cardiovascular disease. This study investigated whether a maternal high-fat diet, independently or additively with diabetes, could impair fuel metabolism, mitochondrial function, and cardiac physiology in the developing offspring's heart. Sprague-Dawley rats fed a control or high-fat diet were administered placebo or streptozotocin to induce diabetes during pregnancy and then delivered offspring from four groups: control, diabetes exposed, diet exposed, and combination exposed. Cardiac function, cellular bioenergetics (mitochondrial stress test, glycolytic stress test, and palmitate oxidation assay), lipid peroxidation, mitochondrial histology, and copy number were determined. Diabetes-exposed offspring had impaired glycolytic and respiratory capacity and a reduced proton leak. High-fat diet-exposed offspring had increased mitochondrial copy number, increased lipid peroxidation, and evidence of mitochondrial dysfunction. Combination-exposed pups were most severely affected and demonstrated cardiac lipid droplet accumulation and diastolic/systolic cardiac dysfunction that mimics that of adult diabetic cardiomyopathy. This study is the first to demonstrate that a maternal high-fat diet impairs cardiac function in offspring of diabetic pregnancies through metabolic stress and serves as a critical step in understanding the role of cellular bioenergetics in developmentally programmed cardiac disease. © 2016 the American Physiological Society.


Jain S.,Children's Healthcare Of Atlanta | Cheng J.,Children's Healthcare Of Atlanta | Alpern E.R.,Lurie Childrens Hospital of Chicago | Thurm C.,Childrens Hospital Association | And 5 more authors.
Pediatrics | Year: 2014

BACKGROUND: Blood, urine, and cerebrospinal fluid cultures and admission for antibiotics are considered standard management of febrile neonates (0-28 days). We examined variation in adherence to these recommendations across US pediatric emergency departments (PEDs) and incidence of serious infections (SIs) in febrile neonates. METHODS: Cross-sectional study of neonates with a diagnosis of fever evaluated in 36 PEDs in the 2010 Pediatric Health Information System database. We analyzed performance of recommended management (laboratory testing, antibiotic use, admission to hospital), 48-hour return visits to PED, and diagnoses of SI. RESULTS: Of 2253 neonates meeting study criteria, 369 (16.4%) were evaluated and discharged from the PED; 1884 (83.6%) were admitted. Recommended management occurred in 1497 of 2253 (66.4%; 95% confidence interval, 64.5-68.4) febrile neonates. There was more than twofold variation across the 36 PEDs in adherence to recommended management, recommended testing, and recommended treatment of febrile neonates. There was significant variation in testing and treatment between admitted and discharged neonates (P < .001). A total of 269 in 2253 (11.9%) neonates had SI, of whom 223 (82.9%; 95% confidence interval, 77.9-86.9) received recommended management. CONCLUSIONS: There was wide variation across US PEDs in adherence to recommended management of febrile neonates. One in 6 febrile neonates was discharged from the PED; discharged patients were less likely to receive testing or antibiotic therapy than admitted patients. A majority of neonates with SI received recommended evaluation and management. High rates of SI in admitted patients but low return rates for missed infections in discharged patients suggest a need for additional studies to understand variation from the current recommendations. Copyright © 2014 by the American Academy of Pediatrics.


PubMed | Sanford Burnham Institute for Medical Research and Sanford Childrens Hospital
Type: Journal Article | Journal: Lipids | Year: 2016

Docosahexaenoic acid (DHA) is an essential fatty acid (FA) important for health and neurodevelopment. Premature infants are at risk of DHA deficiency and circulating levels directly correlate with health outcomes. Most supplementation strategies have focused on increasing DHA content in mothers milk or infant formula. However, extremely premature infants may not reach full feedings for weeks and commercially available parenteral lipid emulsions do not contain preformed DHA, so blood levels decline rapidly after birth. Our objective was to develop a DHA supplementation strategy to overcome these barriers. This double-blind, randomized, controlled trial determined feasibility, tolerability and efficacy of daily enteral DHA supplementation (50 mg/day) in addition to standard nutrition for preterm infants (24-34 weeks gestational age) beginning in the first week of life. Blood FA levels were analyzed at baseline, full feedings and near discharge in DHA (n = 31) or placebo supplemented (n = 29) preterm infants. Term peers (n = 30) were analyzed for comparison. Preterm infants had lower baseline DHA levels (p < 0.0001). Those receiving DHA had a progressive increase in circulating DHA over time (from 3.33 to 4.09 wt% or 2.88 to 3.55 mol%, p < 0.0001) while placebo-supplemented infants (receiving standard neonatal nutrition) had no increase over time (from 3.35 to 3.32 wt% or 2.91 to 2.87 mol%). Although levels increased with additional DHA supplementation, preterm infants still had lower blood DHA levels than term peers (4.97 wt% or 4.31 mol%) at discharge (p = 0.0002). No differences in adverse events were observed between the groups. Overall, daily enteral DHA supplementation is feasible and alleviates deficiency in premature infants.


Demarco R.T.,Sanford Childrens Hospital
Advances in Urology | Year: 2011

The surgical management of pediatric stone disease has evolved significantly over the last three decades. Prior to the introduction of shockwave lithotripsy (SWL) in the 1980s, open lithotomy was the lone therapy for children with upper tract calculi. Since then, SWL has been the procedure of choice in most pediatric centers for children with large renal calculi. While other therapies such as percutaneous nephrolithotomy (PNL) were also being advanced around the same time, PNL was generally seen as a suitable therapy in adults because of the concerns for damage in the developing kidney. However, recent advances in endoscopic instrumentation and renal access techniques have led to an increase in its use in the pediatric population, particularly in those children with large upper tract stones. This paper is a review of the literature focusing on the indications, techniques, results, and complications of PNL in children with renal calculi. Copyright © 2011 Romano T. DeMarco.


Kruer M.C.,Sanford Childrens Hospital
International Review of Neurobiology | Year: 2013

Neuropathology plays a key role in characterizing the pathogenesis of neurodegenerative diseases including forms of neurodegeneration with brain iron accumulation (NBIA). Despite important differences, several genetically diverse forms of NBIA nevertheless share common features in addition to iron deposition, such as the presence of neuroaxonal spheroids. Multiple forms of NBIA also demonstrate tau or synuclein pathology, suggesting parallels with both Alzheimer and Parkinson diseases. This chapter summarizes what has been learned from the study of human patient tissues. Gross and microscopic findings are delineated, and similarities and differences between forms of NBIA are presented. Neuropathologic findings often help characterize fundamental features of disease and provide a springboard for more focused hypothesis-driven studies. Lessons learned from neuropathology thus contribute much to the characterization of the molecular mechanisms of disease. © 2013 Elsevier Inc.


Yang T.,Sanford Childrens Hospital | Mauriallo C.,Sanford Childrens Hospital
Interdisciplinary Neurosurgery: Advanced Techniques and Case Management | Year: 2016

Shunt infection is one of the most common complications related to VPS insertion. Most shunt infections occur within the first year of surgery. We present a case of delayed infection 4 years after shunt insertion without intervening shunt manipulation. Our patient presented with recurrent ascites, and cultures of peritoneal fluid and CSF both recovered Corynebacterium afermentans. This case demonstrates that a delayed onset of ascites after shunt insertion can be secondary to infection with uncommon indolent pathogen. © 2016 The Authors.


Parent J.J.,Indiana University | Bendaly E.A.,Sanford Childrens Hospital | Hurwitz R.A.,Indiana University
Congenital Heart Disease | Year: 2014

Objective: The purpose of this study is to report a single institution's experience with abdominal coarctation in children and report associated comorbidities. Background: Abdominal coarctation is a rare condition, accounting for less than 2% of aortic coarctations. Single patients with abdominal coarctation have been reported with additional vascular disease in pediatric patients. Methods: Our echocardiography database between January 2001 and January 2012 was searched to identify all patients with abdominal coarctation. Relevant clinical data were reviewed. Results: Nine patients were identified with abdominal coarctation. Median age at diagnosis was 4.7 years (IQR 1.1-14.3 years). Additional cardiac diagnoses were found in three patients: one had moderate aortic regurgitation and aortic root dilatation; one had mild aortic regurgitation, severe mitral regurgitation, and atrial flutter; and one had a thoracic coarctation previously repaired. Eight patients (89%) had an associated noncardiac comorbidity. Comorbidities included: Takayasu arteritis (n = 3), systemic lupus erythematosus (n = 1), epidermal nevus syndrome (n = 1), abdominal hemagioma (n = 1), Williams syndrome (n = 1), and renal artery stenosis (n = 2). Intervention was performed in four patients (57%): two underwent surgical grafting and two had angioplasty with stent placement. Patients with surgical grafting required no further intervention, whereas both patients who underwent angioplasty and stenting required further stent placement. Conclusion: Abdominal coarctation is a rare anomaly. It is frequently associated with other vascular abnormalities. Vasculitis should be suspected in children with abdominal coarctation. All patients, even if treated, require continued close observation. © 2013 Wiley Periodicals, Inc.

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