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Sharon E. Plon - One of the best experts on this subject based on the ideXlab platform.

  • generalized Metabolic Bone Disease in neurofibromatosis type i
    Molecular Genetics and Metabolism, 2008
    Co-Authors: Nicola Brunettipierri, Kelly Phan, Roberto Mendozalondono, Maria Blazo, Alyssa Tran, Susan Carter, John Hicks, Richard A Lewis, Stephen B Doty, Sharon E. Plon
    Abstract:

    Abstract Skeletal abnormalities are a recognized component of Neurofibromatosis type I (NF1) but a generalized Metabolic Bone defect in NF1 has not been fully characterized thus far. The purpose of this study was to characterize at the densitometric, biochemical and pathological level the Bone involvement in NF1 patients. Using dual energy X-ray absorptiometry (DXA) we analyzed Bone status in 73 unselected NF1 subjects, 26 males and 47 females, mainly children and adolescents (mean age: 16.6 years). In a subgroup of subjects with low Bone mass, we measured indices of calcium–phosphate metabolism, Bone turnover, and Bone density before and after vitamin D and calcium treatment. We found statistically significant and generalized reduction in Bone mass with the mean lumbar Bone mineral density (BMD) z -score being −1.38 ± 1.05 (CI 95% −1.62 to −1.13), and whole body Bone mineral content (BMC) z -score −0.61 ± 1.19 (CI 95% −0.94 to −0.29), both significantly reduced compared to normal controls ( p z -scores did not significantly improve after 2 years of follow-up. Histological analysis of Bone samples from NF1 patients revealed substantial alteration of Bone microarchitecture due mainly to reduced trabecular Bone. Our observations are consistent with a generalized Bone Metabolic defect due to loss of the function of neurofibromin. Early identification of patients with osteoporosis may permit more timely and aggressive treatments to prevent the likely substantial morbidity associated with increased fracture risk later in life.

  • generalized Metabolic Bone Disease in neurofibromatosis type i
    Molecular Genetics and Metabolism, 2008
    Co-Authors: Nicola Brunettipierri, Kelly Phan, Roberto Mendozalondono, Maria Blazo, Alyssa Tran, Susan Carter, John Hicks, Richard A Lewis, Stephen B Doty, Sharon E. Plon
    Abstract:

    Abstract Skeletal abnormalities are a recognized component of Neurofibromatosis type I (NF1) but a generalized Metabolic Bone defect in NF1 has not been fully characterized thus far. The purpose of this study was to characterize at the densitometric, biochemical and pathological level the Bone involvement in NF1 patients. Using dual energy X-ray absorptiometry (DXA) we analyzed Bone status in 73 unselected NF1 subjects, 26 males and 47 females, mainly children and adolescents (mean age: 16.6 years). In a subgroup of subjects with low Bone mass, we measured indices of calcium–phosphate metabolism, Bone turnover, and Bone density before and after vitamin D and calcium treatment. We found statistically significant and generalized reduction in Bone mass with the mean lumbar Bone mineral density (BMD) z -score being −1.38 ± 1.05 (CI 95% −1.62 to −1.13), and whole body Bone mineral content (BMC) z -score −0.61 ± 1.19 (CI 95% −0.94 to −0.29), both significantly reduced compared to normal controls ( p z -scores did not significantly improve after 2 years of follow-up. Histological analysis of Bone samples from NF1 patients revealed substantial alteration of Bone microarchitecture due mainly to reduced trabecular Bone. Our observations are consistent with a generalized Bone Metabolic defect due to loss of the function of neurofibromin. Early identification of patients with osteoporosis may permit more timely and aggressive treatments to prevent the likely substantial morbidity associated with increased fracture risk later in life.

  • generalized Metabolic Bone Disease in neurofibromatosis type i
    Molecular Genetics and Metabolism, 2008
    Co-Authors: Nicola Brunettipierri, Kelly Phan, Roberto Mendozalondono, Maria Blazo, Susan Carter, John Hicks, Richard A Lewis, Stephen B Doty, Alyssa A Tran, Sharon E. Plon
    Abstract:

    Skeletal abnormalities are a recognized component of Neurofibromatosis type I (NF1) but a generalized Metabolic Bone defect in NF1 has not been fully characterized thus far. The purpose of this study was to characterize at the densitometric, biochemical and pathological level the Bone involvement in NF1 patients. Using dual energy X-ray absorptiometry (DXA) we analyzed Bone status in 73 unselected NF1 subjects, 26 males and 47 females, mainly children and adolescents (mean age: 16.6 years). In a subgroup of subjects with low Bone mass, we measured indices of calcium-phosphate metabolism, Bone turnover, and Bone density before and after vitamin D and calcium treatment. We found statistically significant and generalized reduction in Bone mass with the mean lumbar Bone mineral density (BMD) z-score being -1.38+/-1.05 (CI 95% -1.62 to -1.13), and whole body Bone mineral content (BMC) z-score -0.61+/-1.19 (CI 95% -0.94 to -0.29), both significantly reduced compared to normal controls (p<.001). PTH was moderately elevated and after 4 months of supplemental therapy with calcium and vitamin D, it decreased to the normal range. However, BMD z-scores did not significantly improve after 2 years of follow-up. Histological analysis of Bone samples from NF1 patients revealed substantial alteration of Bone microarchitecture due mainly to reduced trabecular Bone. Our observations are consistent with a generalized Bone Metabolic defect due to loss of the function of neurofibromin. Early identification of patients with osteoporosis may permit more timely and aggressive treatments to prevent the likely substantial morbidity associated with increased fracture risk later in life.

Nicola Brunettipierri - One of the best experts on this subject based on the ideXlab platform.

  • generalized Metabolic Bone Disease in neurofibromatosis type i
    Molecular Genetics and Metabolism, 2008
    Co-Authors: Nicola Brunettipierri, Kelly Phan, Roberto Mendozalondono, Maria Blazo, Alyssa Tran, Susan Carter, John Hicks, Richard A Lewis, Stephen B Doty, Sharon E. Plon
    Abstract:

    Abstract Skeletal abnormalities are a recognized component of Neurofibromatosis type I (NF1) but a generalized Metabolic Bone defect in NF1 has not been fully characterized thus far. The purpose of this study was to characterize at the densitometric, biochemical and pathological level the Bone involvement in NF1 patients. Using dual energy X-ray absorptiometry (DXA) we analyzed Bone status in 73 unselected NF1 subjects, 26 males and 47 females, mainly children and adolescents (mean age: 16.6 years). In a subgroup of subjects with low Bone mass, we measured indices of calcium–phosphate metabolism, Bone turnover, and Bone density before and after vitamin D and calcium treatment. We found statistically significant and generalized reduction in Bone mass with the mean lumbar Bone mineral density (BMD) z -score being −1.38 ± 1.05 (CI 95% −1.62 to −1.13), and whole body Bone mineral content (BMC) z -score −0.61 ± 1.19 (CI 95% −0.94 to −0.29), both significantly reduced compared to normal controls ( p z -scores did not significantly improve after 2 years of follow-up. Histological analysis of Bone samples from NF1 patients revealed substantial alteration of Bone microarchitecture due mainly to reduced trabecular Bone. Our observations are consistent with a generalized Bone Metabolic defect due to loss of the function of neurofibromin. Early identification of patients with osteoporosis may permit more timely and aggressive treatments to prevent the likely substantial morbidity associated with increased fracture risk later in life.

  • generalized Metabolic Bone Disease in neurofibromatosis type i
    Molecular Genetics and Metabolism, 2008
    Co-Authors: Nicola Brunettipierri, Kelly Phan, Roberto Mendozalondono, Maria Blazo, Alyssa Tran, Susan Carter, John Hicks, Richard A Lewis, Stephen B Doty, Sharon E. Plon
    Abstract:

    Abstract Skeletal abnormalities are a recognized component of Neurofibromatosis type I (NF1) but a generalized Metabolic Bone defect in NF1 has not been fully characterized thus far. The purpose of this study was to characterize at the densitometric, biochemical and pathological level the Bone involvement in NF1 patients. Using dual energy X-ray absorptiometry (DXA) we analyzed Bone status in 73 unselected NF1 subjects, 26 males and 47 females, mainly children and adolescents (mean age: 16.6 years). In a subgroup of subjects with low Bone mass, we measured indices of calcium–phosphate metabolism, Bone turnover, and Bone density before and after vitamin D and calcium treatment. We found statistically significant and generalized reduction in Bone mass with the mean lumbar Bone mineral density (BMD) z -score being −1.38 ± 1.05 (CI 95% −1.62 to −1.13), and whole body Bone mineral content (BMC) z -score −0.61 ± 1.19 (CI 95% −0.94 to −0.29), both significantly reduced compared to normal controls ( p z -scores did not significantly improve after 2 years of follow-up. Histological analysis of Bone samples from NF1 patients revealed substantial alteration of Bone microarchitecture due mainly to reduced trabecular Bone. Our observations are consistent with a generalized Bone Metabolic defect due to loss of the function of neurofibromin. Early identification of patients with osteoporosis may permit more timely and aggressive treatments to prevent the likely substantial morbidity associated with increased fracture risk later in life.

  • generalized Metabolic Bone Disease in neurofibromatosis type i
    Molecular Genetics and Metabolism, 2008
    Co-Authors: Nicola Brunettipierri, Kelly Phan, Roberto Mendozalondono, Maria Blazo, Susan Carter, John Hicks, Richard A Lewis, Stephen B Doty, Alyssa A Tran, Sharon E. Plon
    Abstract:

    Skeletal abnormalities are a recognized component of Neurofibromatosis type I (NF1) but a generalized Metabolic Bone defect in NF1 has not been fully characterized thus far. The purpose of this study was to characterize at the densitometric, biochemical and pathological level the Bone involvement in NF1 patients. Using dual energy X-ray absorptiometry (DXA) we analyzed Bone status in 73 unselected NF1 subjects, 26 males and 47 females, mainly children and adolescents (mean age: 16.6 years). In a subgroup of subjects with low Bone mass, we measured indices of calcium-phosphate metabolism, Bone turnover, and Bone density before and after vitamin D and calcium treatment. We found statistically significant and generalized reduction in Bone mass with the mean lumbar Bone mineral density (BMD) z-score being -1.38+/-1.05 (CI 95% -1.62 to -1.13), and whole body Bone mineral content (BMC) z-score -0.61+/-1.19 (CI 95% -0.94 to -0.29), both significantly reduced compared to normal controls (p<.001). PTH was moderately elevated and after 4 months of supplemental therapy with calcium and vitamin D, it decreased to the normal range. However, BMD z-scores did not significantly improve after 2 years of follow-up. Histological analysis of Bone samples from NF1 patients revealed substantial alteration of Bone microarchitecture due mainly to reduced trabecular Bone. Our observations are consistent with a generalized Bone Metabolic defect due to loss of the function of neurofibromin. Early identification of patients with osteoporosis may permit more timely and aggressive treatments to prevent the likely substantial morbidity associated with increased fracture risk later in life.

Philip R Schauer - One of the best experts on this subject based on the ideXlab platform.

  • perioperative management of bariatric surgery patients focus on Metabolic Bone Disease
    Cleveland Clinic Journal of Medicine, 2008
    Co-Authors: Susan Williams, Karen Cooper, Bradford J Richmond, Philip R Schauer
    Abstract:

    Chronic vitamin D deficiency, inadequate calcium intake, and secondary hyperparathyroidism are common in obese individuals, placing them at risk for low Bone mass and Metabolic Bone Disease. After bariatric surgery, they are at even higher risk, owing to malabsorption and decreased oral intake. Meticulous preoperative screening, judicious use of vitamin and mineral supplements, addressing modifiable risk factors, and monitoring the absorption of key nutrients postoperatively are essential in preventing Metabolic Bone Disease in bariatric surgery patients.

Andrew C Calabria - One of the best experts on this subject based on the ideXlab platform.

  • screening for Metabolic Bone Disease of prematurity
    Seminars in Fetal & Neonatal Medicine, 2020
    Co-Authors: Arpana Rayannavar, Andrew C Calabria
    Abstract:

    Metabolic Bone Disease (MBD) of prematurity remains a significant comorbid condition in preterm, low birth weight infants. As the majority of in utero calcium (Ca) and phosphorus (Phos) accretion occurs during the third trimester, many of these children have inadequate mineral stores and are at risk for deficiencies of Ca and Phos. While fortification of formula has allowed for increased mineral delivery to premature infants, intestinal immaturity prevents optimal absorption. This is compounded by immobilization, delayed establishment of enteral feeds, long term parenteral nutrition and medications that may alter mineral levels. Over time, biochemical changes occur and accompany MBD, with poor Bone mineralization during this period increasing the risk for complications such as osteopenia, rickets and fractures. Screening is largely based on risk factors, but despite the 2013 AAP Consensus Statement, there remains significant variation in screening practices across institutions. A combination of laboratory and radiologic testing is often used to diagnose and manage MBD of prematurity, but there exists a lack of consensus on which screening tests and thresholds to use. This is in part related to a lack of normative data and clinical trials for preterm infants, and a result, a lack of evidence-based guidelines on the diagnosis and timing of potential treatment. Biochemical markers, such as serum Phos, alkaline phosphatase (ALP) and parathyroid hormone (PTH), have shown some benefit in the diagnosis of MBD in some studies, but have not always been reproducible. Radiographs may identify different degrees of skeletal changes, but these changes may not be detected until later in MBD development. Other modalities, such as DXA and ultrasound, have also been used, but these may be limited by lack of standards in preterm infants or lack of availability in some centers. Further research, more specifically clinical trials, are needed to determine which combination of tests can detect MBD at its earliest, in order to promote early treatment and prevent short- and long-term complications of MBD.

  • calcitriol treatment in Metabolic Bone Disease of prematurity with elevated parathyroid hormone a preliminary study
    Journal of clinical & translational endocrinology, 2015
    Co-Authors: Stacy E Rustico, Andrew C Calabria, Andrea Kelly, Heather M Monk
    Abstract:

    Abstract Objective To describe the association of calcitriol treatment with the change in parathyroid hormone (PTH) and biochemical markers of Bone Disease in infants with Metabolic Bone Disease of prematurity (MBD) and secondary hyperparathyroidism. Study design This retrospective chart review examined serum intact PTH, serum calcium (Ca), serum phosphorus (P), serum alkaline phosphatase (APA), urine calcium/creatinine (UCa/Cr), and tubular reabsorption of phosphate (TRP) in 32 infants prior to and following calcitriol treatment for MBD with PTH >100 pg/ml. 25-hydroxyvitamin D concentrations were recorded. Results Following calcitriol treatment, PTH decreased from median (min/max) 220 (115/593) to 25 (3/259) pg/ml, p p p  = 0.001; and TRP increased from 81 (59/98) to 91.5 (78/98) %, p  = 0.03. APA did not differ pre-treatment: 616 (209/1193) vs. post-treatment 485 (196/1229) U/L, p  = 0.12. Vitamin D deficiency was not present. Hypercalcemia with hypercalciuria occurred in 3/32 subjects, all normalized after dose reduction. Conclusion Improvements in MBD markers and lack of serious adverse effects suggest calcitriol may be a treatment option in infants with MBD and secondary hyperparathyroidism.

  • Metabolic Bone Disease of prematurity
    Journal of clinical & translational endocrinology, 2014
    Co-Authors: Stacy E Rustico, Andrew C Calabria, Samuel J Garber
    Abstract:

    Metabolic Bone Disease (MBD) of prematurity remains a significant problem for preterm, chronically ill neonates. The definition and recommendations for screening and treatment of MBD vary in the literature. A recent American Academy of Pediatrics Consensus Statement may help close the gap in institutional variation, but evidence based practice guidelines remain obscure due to lack of normative data and clinical trials for preterm infants. This review highlights mineral homeostasis physiology, current recommendations in screening and monitoring, prevention and treatment strategies, and an added perspective of a Bone health team serving a high volume referral neonatal intensive care center.

Deepak Kumar - One of the best experts on this subject based on the ideXlab platform.

  • Metabolic Bone Disease a continued challenge in extremely low birth weight infants
    Journal of Parenteral and Enteral Nutrition, 2014
    Co-Authors: Sreekanth Viswanathan, Wasim Khasawneh, Kera Mcnelis, Carly Dykstra, Randi Amstadt, Dennis M Super, Sharon Grohwargo, Deepak Kumar
    Abstract:

    Background: Metabolic Bone Disease (MBD) is an important prematurity-related morbidity, but remains inadequately investigated in extremely low birth weight (ELBW) infants, the group most at risk. The objective was to describe the incidence and associated risk factors of MBD in ELBW infants. Methods: Retrospective analysis of all ELBW infants admitted between January 2005 and December 2010 who survived > 8 weeks. MBD was defined as the presence of osteopenia or rickets in radiographs. Results: Of the 230 infants included in the study, 71 (30.9%) developed radiological evidence of MBD (cases) of which 24/71 (33.8%) developed spontaneous fractures. MBD and fractures were noted at mean postnatal ages of 58.2 ± 28 and 100.0 ± 61 days, respectively. Compared with controls, cases were smaller at birth (664.6 ± 146 g vs 798.1 ± 129 g), more premature (25.0 ± 1.8 vs 26.4 ± 1.9 weeks), more frequently associated with mechanical ventilation, chronic lung Disease, parenteral nutrition days, cholestasis, furosemide, p...