A5084202494- Digital Media and Philosophy
- Shakespeare, Adaptation, and Literary Criticism
- Digital Games and Media
- Early Modern Spanish Literature
- Historical Art and Architecture Studies
- Library Science and Administration
- Legal Education and Practice Innovations
- Themes in Literature Analysis
- Race, History, and American Society
- Gothic Literature and Media Analysis
- Web and Library Services
- Japanese History and Culture
- Renaissance Literature and Culture
- Classical Antiquity Studies
- Irish and British Studies
- AI in Service Interactions
- Comics and Graphic Narratives
- Media, Religion, Digital Communication
- Architecture, Design, and Social History
- Historical and Architectural Studies
- American Constitutional Law and Politics
- Archaeology and Historical Studies
- Gambling Behavior and Treatments
- Libraries, Manuscripts, and Books
- Connective tissue disorders research
The University of Texas Southwestern Medical Center
2024-2025
George Washington University
2020-2024
Children's National
2021-2024
National Hospital
2024
Washington University Medical Center
2020
Texas Children's Hospital
2019
Baylor College of Medicine
2016-2019
Lokmanya Tilak Municipal General Hospital and Lokmanya Tilak Municipal Medical College
2004
Abstract Achondroplasia is the most common disproportionate short-stature skeletal dysplasia. Features associated with achondroplasia are rhizomelia, macrocephaly, midface hypoplasia, and typical cognition. Potential medical complications include foramen magnum stenosis, hydrocephalus, middle ear dysfunction, obstructive central sleep apnea, spinal stenosis genu varum. Recently, vosoritide, a CNP analogue, was approved by FDA primary indication of increasing linear growth in all children...
Abstract Background Achondroplasia, a disease characterized by disproportionate short stature and increased morbidity, affects daily function quality of life over the lifetime individual. However, data are limited on its economic impact, especially related to healthcare resource utilization (HCRU) associated costs. This study aimed characterize clinical impact achondroplasia in US relative matched non-achondroplasia controls stratified pediatric adult populations. Methods retrospective used...
Introduction: Short stature can lead to physical limitations and socioemotional effects limiting a child parents’ quality of life (QoL). This study investigates the impact hypochondroplasia other genetic causes (ACAN, NPR2 mutations RASopathy) short on QoL. Methods: Parents participants in an ongoing Phase II clinical trial vosoritide children with selected completed Quality Life Stature Youth (QoLISSY) survey. Results from survey domains (Total, Physical, Social, Emotional, Coping, Beliefs,...
Abstract Context Denosumab is an effective treatment for many receptor activator of nuclear factor kappa-B ligand (RANKL)-mediated disorders but there are potential safety considerations and limited data to guide its use in children adolescents. Objective This document seeks summarize the evidence provide expert opinion on safe appropriate denosumab pediatric RANKL-mediated disorders. Participants Ten experts bone mineral medicine from 6 countries with experience participated creation this...
Introduction Type 1 pseudohypoaldosteronism (PHA) consists of resistance to aldosterone. Neonatal presentation is characterized by salt wasting, hyperkalemia, and metabolic acidosis with high risk mortality. PHA can be autosomal dominant (renal type 1) or recessive (systemic 1). Renal feasibly managed supplementation; however, systemic tends have more severe electrolyte imbalance refractory treatment. Case Presentation We present a case 3-year-old girl 1, diagnosed confirmed molecularly in...
Hypochondroplasia is a rare autosomal dominant skeletal dysplasia due to activating variants in
Introduction: Vosoritide is a C-type natriuretic peptide (CNP) analog that binds its receptor on chondrocytes, promoting growth by inhibiting the ERK1/2-MAPK pathway. We previously reported results of phase II study in children with hypochondroplasia. led to an average increase annualized height velocity (AHV) 1.81 cm/year and gain 0.36 standard deviation (SD) over 12 months. present here pharmacokinetic/pharmacodynamic (PK/PD) data from this examine correlations between these parameters...
We report three patients with elevations of propionylcarnitine (C3), one without 2-methylcitrate and 3-hydroxypropionate in urine organic acid analysis, the other two showing only mild elevations, all whom were subsequently confirmed to have propionic acidemia by molecular analysis PCCA PCCB genes. To date, they had a clinical course. These cases illustrate importance considering high C3 as biochemical abnormality diagnosis acidemia. Since may be overlooked considered non-diagnostic...
Background. McCune-Albright syndrome (MAS) is characterized by hyperpigmented macules, endocrinopathies, and fibrous dysplasia. Hyperthyroidism the second most common endocrinopathy in MAS its management challenging, particularly among infants toddlers. Traditionally, young have been treated with antithyroid medications, but remission likely these medications severe side effects affect control of other endocrinopathies. Thus, it reasonable to consider permanent treatment options at an...
Hypochondroplasia is a rare skeletal dysplasia resulting in disproportionate short stature and due to activating variants FGFR3. It has an estimated prevalence of between 1 9 per 100,000 people. Vosoritide C-type natriuretic peptide analog which binds its receptor on chondrocytes, leading increased chondrocyte proliferation differentiation via inhibition the ERK1/2-MAPK pathway. This pathway downstream FGFR3 activity hypochondroplasia. was recently approved for increasing linear growth...
Rare patients with short stature and growth hormone (GH) resistance have dominant-negative variants in the GH receptor. We describe a patient due to elevated levels of binding protein demonstrate potential for precision medicine intervention.
Glucocorticoids are standard of care for patients with Duchenne muscular dystrophy (DMD). Although prolonged exposure is associated multiple endocrine side effects, current guidelines related to monitoring and management endocrinopathies suboptimal. We aim explore community perceptions complications in DMD, assess level understanding, desire further education. A 31-item online survey was sent through Parent Project Muscular Dystrophy (PPMD) Registry members be completed by or their...
Summary Iodine nutrition is a growing issue within the USA due to newer trends of non-iodized salts. There are no recent reviews looking at current state iodine deficiency-induced hypothyroidism in children USA. We performed retrospective chart review our tertiary pediatric endocrine clinic; four met diagnostic criteria for deficiency defined by low urine level. further characterized severity disease, risk factors, goiter, thyroid labs and antibodies. All cases had significant goiter were...
Severe 25-hydroxyvitamin D (25(OH)D) deficiency can result in life-threatening presentations due to hypocalcemia leading seizures and cardiac arrhythmias. vitamin is a common cause of rickets children; however, there are no recent studies on the burden inpatient admissions United States. Our study aims describe clinical characteristics risk factors severe 25(OH)D at freestanding academic children's hospital.A descriptive retrospective chart review was completed all from 2016 2021 for...
Abstract Germline pathogenic variants in the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway are molecular cause of RASopathies, a group clinically overlapping genetic syndromes. RASopathies constitute wide clinical spectrum characterized by distinct facial features, short stature, predisposition to cancer, and variable anomalies nearly all major body systems. With increasing global recognition these conditions, 8th International Symposium spotlighted perspectives on care...
Abstract Children with skeletal dysplasias have not been consistently managed by pediatric endocrinologists despite the recognized expertise of these practitioners in managing genetic growth disorders. Growth-altering treatments broadened role endocrinologist to manage and sometimes become primary coordinators for disorders such as Turner syndrome Prader-Willi syndrome. We illustrate how recent advances understanding pathophysiology development targeted provide an opportunity further expand...
Background: Maturity onset diabetes of the young (MODY) 5 is a rare type dominantly inherited mellitus (DM). It caused by mutations hepatocyte nuclear factor-1beta (HNF-1 beta) gene. Most are missense that produce truncated proteins resulting in variable clinical spectrum may include kidney, genital and pancreatic abnormalities. We describe case patient diagnosed with DM after renal transplant; also, his diagnosis disclosed extensive family history DM. Case: Six-year-old African-American end...
Abstract Objectives Vosoritide is a C-type natriuretic peptide analog which binds its receptor on chondrocytes, leading to increased chondrocyte proliferation and differentiation via inhibition of the ERK1/2-MAPK pathway. It was recently approved for increasing linear growth in children with achondroplasia. Our study aims assess safety efficacy vosoritide genetic mutations 6 categories: hypochondroplasia, Rasopathies (including Noonan syndrome), aggrecan deficiency, carriers heterozygous...