Results 41 to 50 of about 3,700 (196)
Transition of young adults with metabolic bone diseases to adult care
Frontiers in Endocrinology, 2023 As more accurate diagnostic tools and targeted therapies become increasingly available for pediatric metabolic bone diseases, affected children have a better prognosis and significantly longer lifespan.
Jordan Ross +5 more
doaj +1 more source
Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia
JIMD Reports, 2021 Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by deficient activity of alkaline phosphatase, causing defective mineralization of bones and teeth.
Olivia Sarah Strandbech +2 more
doaj +1 more source
Modern Approaches to the Management of Children with Hypophosphatasia
Педиатрическая фармакология, 2023 Hypophosphatasia is rare genetic disease caused by tissue-nonspecific alkaline phosphatase deficiency due to the mutation in the ALPL gene. Disease can manifest in utero, in childhood or in adults depending on its form and severity. This article presents
Aleksander A. Baranov +22 more
doaj +1 more source
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source
There’s Something in the Water: An Unusual Case of Hypophosphatasia
, 2023 Learning Objectives 1. Explain the mechanism of TNSALP in the pathogenesisof hypophosphatasia and the role of ALPL mutations inthe severity of disease presentation. 2.
Fan, Chris, Wills, Carson
core +1 more source
Accidental Diagnosis of Type VII Osteogenesis Imperfecta in an Infant Presenting With Pneumonia and Rickets‐Like Rib Fractures: A Case Report [PDF]
Clin Case RepABSTRACT This case report describes a newborn diagnosed with Type VII Osteogenesis Imperfecta (OI) following an incidental finding of rib fractures during evaluation for pneumonia. The patient presented with multiple fractures, including deformities and callus formations in the ribs and extremities, initially raising concerns for differential diagnoses
Parviz S, Hooshyar D.
europepmc +2 more sources
Perinatal Hypophosphatasia in a Premature Infant
American Journal of Perinatology Reports, 2020 A premature male infant was delivered at 32 weeks' gestation due to category-2 fetal tracing after preterm labor. The physical exam showed shortened and bowed long bones, with calvarium felt in small area of the head.
Deepika Sankaran +2 more
doaj +1 more source
Case Report: Variations in the ALPL Gene in Chinese Patients With Hypophosphatasia
Frontiers in Genetics, 2021 Background: Hypophosphatasia (HPP) is an autosomal genetic disorder characterized biochemically by abnormal of bone parameters and serum alkaline phosphatase (ALP) activity as well as clinically by deficiency of teeth and bone mineralization.
Qiang Zhang +7 more
doaj +1 more source
European Journal of Dental Education, EarlyView.ABSTRACT Aim To compare the item difficulty and discriminative index of multiple‐choice questions (MCQs) generated by ChatGPT with those created by dental educators, based on the performance of dental students in a real exam setting. Materials and Methods A total of 40 MCQs—20 generated by ChatGPT 4.0 and 20 by dental educators—were developed based on ...
Nezaket Ezgi Özer +4 more
wiley +1 more source
Hypophosphatasia: Diagnostic Clues for the Dental Practitioner
, 2018 Hypophosphatasia has a wide clinical spectrum ranging from premature loss of primary teeth to neonatal death. The premature loss of primary teeth in a child with an otherwise unremarkable history may be the first sign of a more significant underlying ...
Robert P Anthonappa +2 more
core +1 more source