A5025246221- Growth Hormone and Insulin-like Growth Factors
- Connective tissue disorders research
- Heart Failure Treatment and Management
- Osteoarthritis Treatment and Mechanisms
- Sexual Differentiation and Disorders
- Bone health and treatments
- Pulmonary Hypertension Research and Treatments
- Bone Metabolism and Diseases
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genetic Syndromes and Imprinting
- Thyroid Disorders and Treatments
- Genomics and Rare Diseases
- Bone health and osteoporosis research
- Vitamin D Research Studies
- TGF-β signaling in diseases
- Cytokine Signaling Pathways and Interactions
- Nutrition and Health in Aging
- Muscle Physiology and Disorders
- Hypothalamic control of reproductive hormones
- Cerebral Palsy and Movement Disorders
- Neonatal Respiratory Health Research
- Metabolism, Diabetes, and Cancer
- Hormonal and reproductive studies
- Proteoglycans and glycosaminoglycans research
- Lipid metabolism and disorders
Nemours Children's Clinic
2002-2022
Nemours Children’s Clinic
2003-2019
Nemours Children's Health System
2016-2019
WinnMed
2005
Stanford University
1992-1996
Stanford Medicine
1992-1996
Lucile Packard Children's Hospital
1992
C-type natriuretic peptide (CNP) is an important regulator of skeletal growth. Loss-of-function mutations affecting the CNP receptor receptor-B (gene NPR2) cause autosomal recessive dysplasia, acromesomelic Maroteaux type (AMDM). The phenotype heterozygous carriers NPR2 less clear.The objective study was to determine phenotypic features mutations.This a case-control from general community.Thirty-nine members family in which one member has AMDM were studied.This observational study.The...
Based on the observation of reduced stature in relatives patients with acromesomelic dysplasia, Maroteaux type (AMDM), caused by homozygous or compound heterozygous mutations natriuretic peptide receptor-B gene (NPR2), it has been suggested that this could be responsible for growth impairment observed some cases idiopathic short (ISS). We enrolled 192 unrelated and controls normal height identified seven NPR2 missense splice site all patients, including one de novo variant. Three six...
Osteoarthritis is a disease in which articular cartilage metabolism altered, leading to destruction. As insulin-like growth factor-I (IGF-I) the major anabolic mediator for cartilage, and IGF-binding proteins (IGFBPs) are an integral part of IGF axis, they may play role pathophysiology osteoarthritis. Chondrocytes isolated from fibrillated normal appearing areas osteoarthritic human were studied IGFBP expression. messenger ribonucleic acids analyzed by RT-quantitative PCR technique Northern...
Abstract IGF-I is the major anabolic factor for cartilage matrix production. Chondrocytes and treated with interleukin-1α (IL-1α), chondrocytes from several models of inflammatory joint disease, exhibit reduced responsiveness to IGF-I. Since IGF-binding proteins (IGFBPs) modulate effects IGF-I, we examined effect IL-1α tumor necrosis factor-α (TNF-α) on IGFBP production by normal human articular in primary culture. Western ligand blots immunoprecipitation conditioned medium samples showed...
Summary Objective C ‐type natriuretic peptide ( CNP ) is a paracrine regulatory factor of the growth plate and plays key role in endochondral growth. Its amino‐terminal propeptide NT pro an equimolar product biosynthesis easily measured plasma. Preliminary studies suggest that levels correlate with height velocity sheep children. The objectives study were to define reference range for plasma across childhood. Design This was prospective, cross‐sectional, observational healthy Patients...
Summary Context In contrast to the cardiac hormones, atrial natriuretic peptide ( ANP ) and B ‐type BNP ), variations in plasma concentrations of C CNP healthy adults are ill‐defined, limiting their clinical application. Objective Our objective was define effect age, phenotype (gender, height, BMI renal function on s an population without or cardiovascular disease. Design setting This a prospective cross‐sectional observational study adult volunteers, aged 21–80 years, randomly selected from...
Objective. We compared a rapid, subcutaneous (SQ), single-sample gonadotropin-releasing hormone (GnRH) stimulation test with the standard multiple-sample, intravenous (IV) GnRH used in evaluation of central precocious puberty (CPP). Methods. evaluated 22 patients presenting evidence puberty. (100 µg) was administered subcutaneously clinic setting single serum luteinizing (LH) measured 40 minutes after injection. A IV performed within 2 weeks, LH obtained at 0, 20, 40, and 60 minutes. assayed...
Linear growth results from proliferation and differentiation of chondrocytes within the plates is regulated, in part, by insulin-like factors (IGFs). IGF binding proteins (IGFBPs) also appear to play a significant, but yet unclear, role. To examine IGFBP production chondrocytes, we isolated bovine adult articular, fetal plate cartilage, maintained them primary culture as high-density monolayers or encapsulated alginate beads. Cells were cultured serum-free conditions with human GH (hGH),...
C-type natriuretic peptide (CNP) is a crucial regulator of endochondral bone growth. In previous report child with acromesomelic dysplasia, Maroteaux type (AMDM), caused by loss-of-function the CNP receptor (natriuretic receptor-B [NPR-B]), plasma levels were elevated. vitro studies have shown that activation MAPK kinase (MEK)/ERK pathway causes functional inhibition NPR-B. Achondroplasia, hypochondroplasia, and thanatophoric dysplasia are syndromes short-limbed dwarfism activating mutations...
We performed a case-control study to determine whether occult bone disease is associated with history of frequent fractures in children.Healthy children > or = 2 incidences low-energy were recruited (n 68). Children no served as control subjects 57). Food logs, activity surveys, physical examinations, laboratory tests, and dual-energy radiographic absorptiometry used.Bone mineral density z scores significantly reduced case subjects, compared subjects. Three (4.3%) 1 subject (1.8%) had below...
Abstract Context: C-type natriuretic peptide (CNP), a paracrine factor of the growth plate, plays key role in stimulating bone growth. The amino-terminal propeptide CNP (NTproCNP) is produced equimolar amounts with and measurable plasma, providing potential biomarker for plate activity and, hence, linear Objective: We explored effects puberty, testosterone, GH treatment on NTproCNP levels normal short-statured children. Design: This was retrospective analysis samples obtained during previous...
The most common cause of congenital adrenal hyperplasia is steroid 21-hydroxylase deficiency. molecular genetics this disease are such that genotyping a potentially useful tool in its diagnosis. An assay was developed using real-time, quantitative PCR to detect deletions the gene (CYP21A2). This able heterozygous with an α error rate less than 5%, power greater 95%. When combined allele-specific PCR, for nine mutations can be completed within hours blood sampling. technique used study...
Earlier studies have shown that the progressive, unrelenting muscle loss associated with Duchenne muscular dystrophy (DMD) involves an imbalance between rates of synthesis and degradation proteins. Although previous suggested oxandrolone may be beneficial in DMD, mechanism action on DMD remains unclear. To address these issues, we combined stable isotope gene expression analysis to measure fractional rate myosin heavy chain (MHC), key contractile protein, transcript levels isoforms MHC,...
Height velocity (HV) is difficult to assess because growth very slow. The current practice of calculating it from measurements taken at several-month intervals insufficient for managing children with disorders. We identified a bone by-product (collagen X biomarker, CXM) in blood that preliminary analysis healthy correlated strongly conventionally determined HV and displayed pattern resembling published norms vs age.