A5081937136- Connective tissue disorders research
- Bone health and treatments
- Parathyroid Disorders and Treatments
- Alkaline Phosphatase Research Studies
- Muscle and Compartmental Disorders
- Bone Metabolism and Diseases
- Vitamin D Research Studies
- Dermatological and Skeletal Disorders
- Metabolism and Genetic Disorders
- Genomics and Rare Diseases
- Wnt/β-catenin signaling in development and cancer
- Bone and Dental Protein Studies
- Bone Tumor Diagnosis and Treatments
- Childhood Cancer Survivors' Quality of Life
- Hedgehog Signaling Pathway Studies
- Neurogenetic and Muscular Disorders Research
- Proteoglycans and glycosaminoglycans research
- Genomic variations and chromosomal abnormalities
- Meningioma and schwannoma management
- Pharmaceutical studies and practices
- Biomedical Research and Pathophysiology
- Skin and Cellular Biology Research
- Chronic Myeloid Leukemia Treatments
- Bone and Joint Diseases
- Soft tissue tumors and treatment
Washington University in St. Louis
2022-2024
Shriners Hospitals for Children - St. Louis
2001-2024
Diabetes Australia
2024
Barnes-Jewish Hospital
1999-2024
University of Groningen
2021
St. Louis Children's Hospital
2021
Shriners Hospitals for Children - Erie
1997-2020
Saint Louis University
1999-2017
Washington Center
2014
University of Washington
2014
Abstract Purpose In X-linked hypophosphatemia (XLH), excess fibroblast growth factor-23 causes and low calcitriol, leading to musculoskeletal disease with clinical consequences. XLH treatment options include conventional oral phosphate active vitamin D, or monotherapy burosumab, a monoclonal antibody approved treat children adults XLH. We have previously reported outcomes up 64 weeks, here we report safety efficacy follow-up results 160 weeks from an open-label, multicenter, randomized,...
Abstract Context Younger age at treatment onset with conventional therapy (phosphate salts and active vitamin D; Pi/D) is associated improved growth skeletal outcomes in children X-linked hypophosphatemia (XLH). The effect of on burosumab efficacy safety XLH unknown. Objective This work aimed to explore the vs Pi/D younger (< 5 years) older (5-12 XLH. Methods post hoc analysis a 64-week, open-label, randomized controlled study took place 16 academic centers. Sixty-one aged 1 12 years...
Abstract An 8-month-old girl who seemed certain to die from the infantile form of hypophosphatasia, an inborn error metabolism characterized by deficient activity tissue-nonspecific isoenzyme alkaline phosphatase (TNSALP), underwent first trial bone marrow cell transplantation for this heritable type rickets. After cytoreduction, she was given T-cell-depleted, haplo-identical her healthy sister. Chimerism in peripheral blood and became 100% donor. Three months later, clinically improved,...
Abstract Generalized arterial calcification (AC) of infancy (GACI) is an autosomal recessive disorder that features hydroxyapatite deposition within elastic fibers. Untreated, approximately 85% GACI patients die by 6 months age from cardiac ischemia and congestive heart failure. The first-generation bisphosphonate etidronate (EHDP; ethane-1-hydroxy-1,1-diphosphonic acid, also known as 1-hydroxyethylidene-bisphosphonate) inhibits bone resorption can mimic endogenous inorganic pyrophosphate...
Individuals with neurofibromatosis 1 (NF1) develop both benign and malignant tumors at an increased frequency. One of the most common in NF1 is plexiform neurofibroma. These cause significant morbidity mortality on account their propensity to grow affect adjacent normal tissues. To determine clinical profile neurofibromas NF1, we conducted a retrospective review 68 patients In our series, 44% were detected by 5 years age located trunk extremities. Only two developed peripheral nerve sheath...
Classical Hutchinson-Gilford progeria syndrome (HGPS) is caused by LMNA mutations that generate an alternatively spliced form of lamin A, termed progerin. HGPS patients present in early childhood with atherosclerosis and striking features accelerated aging. We report on two pedigrees adult-onset coronary artery disease progeroid features, who were referred to our International Registry Werner Syndrome (WS) because clinical consistent the diagnosis. No identified WRN gene responsible for WS,...
Abstract Changing to burosumab, a monoclonal antibody targeting fibroblast growth factor 23, significantly improved phosphorus homeostasis, rickets, lower-extremity deformities, mobility, and versus continuing oral phosphate active vitamin D (conventional therapy) in randomized, open-label, phase 3 trial involving children aged 1–12 years with X-linked hypophosphatemia. Patients were randomized (1:1) subcutaneous burosumab or continue conventional therapy. We present patient-reported...
We have identified a point mutation in one α1(I) collagen allele (COL1A1) of child with the type IV osteogenesis imperfecta phenotype. When compared to parental and control samples, skin fibroblasts proband synthesized two populations I molecules. One population was normal; other delayed secretion electrophoretic migration due post-translational overmodification. Two-dimensional gel electrophoresis CNBr peptides demonstrated gradient overmodification beginning near carboxyl-terminal CB...
Multicentric carpotarsal osteolysis syndrome (MCTO), an autosomal dominant disorder that often presents sporadically, features carpal–tarsal lysis frequently followed by nephropathy and renal failure. In 2012, mutations in the single‐exon gene MAFB were reported 13 probands with MCTO. is a negative regulator of RANKL‐mediated osteoclastogenesis. We studied nine MCTO patients (seven sporadic one affected mother son) for mutation. PCR‐amplified selectively sequenced region contains...
Abstract Context In an open-label, randomized, controlled, phase 3 trial in 61 children aged 1 to 12 years with X-linked hypophosphatemia (XLH), burosumab improved rickets vs continuing conventional therapy active vitamin D and phosphate. Objective We conducted analysis determine whether skeletal responses differed when switching higher or lower doses of therapy. Methods Conventional dose groups were defined as higher-dose phosphate [greater than 40 mg/kg] (HPi), lower-dose [40 mg/kg less]...
X-linked hypophosphatemia (XLH) is an inherited skeletal disorder that can lead to lifelong deleterious musculoskeletal and functional consequences. Although often perceived as a childhood condition, children adults both experience the negative effects of XLH. Adolescents young (AYAs) benefit from effective health care transition (HCT) preparation support transfer pediatric- adult-focused care. Whereas timelines, milestones, educational tools exist for some chronic conditions, they do not...