A5053682578- Neurofibromatosis and Schwannoma Cases
- Bone Tumor Diagnosis and Treatments
- Bone health and treatments
- Neuroblastoma Research and Treatments
- Connective tissue disorders research
- Inflammasome and immune disorders
- Mitochondrial Function and Pathology
- Cerebral Palsy and Movement Disorders
- Genetic Neurodegenerative Diseases
- Bone fractures and treatments
- Pectus Deformity Diagnosis and Treatment
- Genetics and Neurodevelopmental Disorders
- Shoulder Injury and Treatment
- HIV/AIDS Research and Interventions
- Genomics and Rare Diseases
- Muscle Physiology and Disorders
- Oral and Maxillofacial Pathology
- Autoimmune Bullous Skin Diseases
- Scoliosis diagnosis and treatment
- Kawasaki Disease and Coronary Complications
- Medical and Biological Sciences
- Sarcoma Diagnosis and Treatment
- Neurogenetic and Muscular Disorders Research
- Medical Imaging and Pathology Studies
- Health and Medical Studies
National Institutes of Health Clinical Center
2009-2023
National Institutes of Health
2009-2023
Office of the Director
2020
New York University
2020
Boston Children's Hospital
2020
Harvard University
2020
Johns Hopkins Medicine
2017
Johns Hopkins University
2017
Uniformed Services University of the Health Sciences
2011
American Academy of Arts and Sciences
2011
Neonatal-onset multisystem inflammatory disease is characterized by fever, urticarial rash, aseptic meningitis, deforming arthropathy, hearing loss, and mental retardation. Many patients have mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene, encoding cryopyrin, a protein that regulates inflammation.
No approved therapies exist for inoperable plexiform neurofibromas in patients with neurofibromatosis type 1.
BACKGROUND. Monogenic IFN–mediated autoinflammatory diseases present in infancy with systemic inflammation, an IFN response gene signature, inflammatory organ damage, and high mortality. We used the JAK inhibitor baricitinib, IFN-blocking activity vitro, to ameliorate disease.
Positive-strand RNA viruses are the largest virus class and include many pathogens such as hepatitis C severe acute respiratory syndrome coronavirus (SARS). Brome mosaic (BMV) is a representative positive-strand whose replication, gene expression, encapsidation have been reproduced in yeast Saccharomyces cerevisiae . By using traditional genetics, host genes identified that function controlling BMV translation, selecting RNAs replication templates, activating complex, maintaining lipid...
Abstract Objective Blocking interleukin‐1 with anakinra in patients the autoinflammatory syndrome neonatal‐onset multisystem inflammatory disease (NOMID) reduces systemic and organ‐specific inflammation. However, impact of long‐term treatment has not been established. This study was undertaken to evaluate effect on clinical laboratory outcomes safety NOMID. Methods We conducted a cohort 26 NOMID ages 0.80–42.17 years who were followed up at NIH treated 1–5 mg/kg/day for least 36 months....
Abstract Background Selumetinib was recently approved for the treatment of inoperable symptomatic plexiform neurofibromas (PNs) in children with neurofibromatosis type 1 (NF1). This parallel phase II study determined response rate to selumetinib NF1 PN without clinically significant morbidity. Methods Children and PNs, which were not yet causing morbidity but had potential cause symptoms, received at 25 mg/m2 orally twice daily (1 cycle = 28 days). Volumetric magnetic resonance imaging...
Pregnenolone sulfate and 15 related steroids were investigated for their effects on N-methyl-D-aspartate (NMDA)-induced elevations in intracellular Ca++ ([Ca++]i) cultured rat hippocampal neurons by microspectrofluorimetry with the Ca(++)-sensitive indicator fura-2. Several pregn-5-ene markedly potentiated NMDA-mediated [Ca++]i responses. its 21-acetoxy derivative pregnenolone hemisuccinate most active. At a concentration of 50 microM, each produced approximately 300% potentiation 5 microM...
Multinucleate cellular syncytial formation is a hallmark of skeletal muscle differentiation. Myomaker, encoded by Mymk (Tmem8c), well-conserved plasma membrane protein required for myoblast fusion to form multinucleated myotubes in mouse, chick, and zebrafish. Here, we report that autosomal recessive mutations MYMK (OMIM 615345) cause Carey-Fineman-Ziter syndrome humans (CFZS; OMIM 254940) reducing but not eliminating function. We characterize MYMK-CFZS as congenital myopathy with marked...
ABSTRACT Fibrous dysplasia (FD) is a mosaic disease in which bone replaced with fibro-osseous tissue. Lesions expand during childhood, reaching final burden by age 15 years. In vitro data suggest that activity decreases adulthood; however, there no clinical to support this concept. Bone turnover markers (BTMs) have been used as of FD; the natural history BTM changes, effects antiresorptive treatment, and their association outcomes not described. The goals study are describe 1) FD its pain;...
10503 Background: PN in NF1 can cause substantial morbidity, and there are no approved medical therapies. In a phase I trial of selumetinib, 17/24 (71%) patients (pts) had partial response (PR)(Dombi, et al. N Engl J Med 2016; 375:2550-2560). This open-label II study (NCT01362803) determines the PR rate treated with selumetinib changes related morbidities. Methods: Patients 2-18 years old NF1, inoperable ≥ 1 morbidity received at recommended dose (25 mg/m2 PO BID) continuous dosing (1 cycle...
ABSTRACT Scoliosis is a complication of fibrous dysplasia/McCune-Albright syndrome (FD/MAS); however, risk factors and long-term outcomes are unknown. Bisphosphonates commonly used; it unknown whether their use decrease the progressive scoliosis. Clinical data from National Institutes Health (NIH) cohort study was reviewed. Cobb angles were measured, variables associated with scoliosis progression identified. Of 138 subjects available radiographs, 84 (61%) had scoliosis, including 55 (65%)...
Intellectual disability (ID) is a heterogeneous condition arising from variety of environmental and genetic factors. Among these causes are defects in transcriptional regulators. Herein, we report on two brothers nonconsanguineous family with novel compound heterozygous, disease‐segregating mutations (NM_015979.3: [3656A > G];[4006C T], NP_057063.2: [H1219R];[R1336X]) MED23 . This gene encodes subunit the Mediator complex that modulates expression RNA polymerase II‐dependent genes. These...