Publications by authors named "A Ryabets-Lienhard"
Article Synopsis
- * A systematic review analyzed multiple studies on obesity pharmacotherapy for DMD, focusing specifically on medications such as metformin, and found a total of 20 qualifying studies, mostly related to metformin's effects.
- * Although the use of obesity medications in youth with DMD shows potential benefits, significant gaps remain in agent selection, side effect monitoring, and dosage strategies, highlighting the need for further research in this area.
Teplizumab (TzieldTM, Provention Bio), a monoclonal antibody directed at T-cell marker CD3, is the first medication approved by the FDA to delay progression from stage 2 to stage 3 type 1 diabetes. To date, the overwhelming majority of pediatric endocrinologists do not have experience using immunotherapeutics and seek guidance on the use of teplizumab in clinical practice. To address this need, the Pediatric Endocrine Society (PES) Diabetes Special Interest Group (Diabetes SIG) and Drug and Therapeutics Committee assembled a task force to review clinical trial data and solicit expert recommendations on the approach to teplizumab infusions.
View Article and Find Full Text PDFWe describe a 15-year-old boy who presented with low back pain due to vertebral compression fractures, growth deceleration, excessive weight gain, rounded facies, dorsocervical fat pad, and hypertension. He was diagnosed as having Cushing syndrome (CS) due to primary pigmented nodular adrenocortical disease resulting in excess cortisol produced by the adrenal glands, leading to disruption of the hypothalamic-pituitary-adrenal axis. The most common cause of CS is exogenous glucocorticoids, with endogenous causes being extremely rare, often leading to delay in diagnosis or misdiagnosis.
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- Progressive osseous heteroplasia (POH) is a rare disorder marked by abnormal bone growth in skin and muscles, leading to joint contractures and loss of function, often associated with GNAS gene mutations; however, some cases lack known genetic causes.
- A novel case involved a 15-year-old male with calcific nodules and muscle weakness starting from age 6, showing heterotopic ossification throughout his body, but no pulmonary fibrosis.
- The study presents a unique association between a new, harmful variant in the FAM111B gene and POH, highlighting the need for further research into the underlying mechanisms and potential treatment options.
A Unique Case of Aggressive Central Giant Cell Granuloma in a 10-Year-Old Boy With 16p13.11 Microdeletion Syndrome.
J Investig Med High Impact Case Rep
September 2022
Central giant cell granuloma (CGCG) is a rare disease characterized by sporadic, benign, intraosseous mandibular lesions of unknown etiology. Histologically, these lesions are indistinguishable from brown tumors of hyperparathyroidism and cherubism, and occasionally have been associated with different syndromes raising a question for genetic etiology. The CGCG has varied presentation ranging from nonaggressive and indolent to aggressive, destructive, and recurrent, often posing diagnostic and therapeutic challenges.
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