Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism.
Endocrinol Diabetes Metab Case Rep
January 2025
Summary: Short stature is a common complaint among pediatric visits and the differential diagnosis is extensive. Although some variations in growth are normal, deviation from normal growth is often the first symptom of chronic disease in children. This is true for hormone abnormalities including growth hormone deficiency, hypothyroidism and glucocorticoid excess.
View Article and Find Full Text PDFIntroduction: Vosoritide is the first approved treatment for achondroplasia, a rare genetic disorder that results in disproportionate short stature. In clinical trials, vosoritide has shown a positive safety profile and increased height in children with achondroplasia. This paper shares the organizational structure, initiation, follow-up protocol, and findings of a vosoritide early access program (EAP) conducted in France.
View Article and Find Full Text PDFBone Regeneration: Mini-Review and Appealing Perspectives.
Bioengineering (Basel)
January 2025
CIRIMAT, Toulouse INP, Université Toulouse 3 Paul Sabatier, CNRS, Université de Toulouse, 4 Allée Emile Monso, BP44362, CEDEX 4, 31030 Toulouse, France.
Bone is a natural mineral-organic nanocomposite protecting internal organs and allowing mobility. Through the ages, numerous strategies have been developed for repairing bone defects and fixing fractures. Several generations of bone repair biomaterials have been proposed, either based on metals, ceramics, glasses, or polymers, depending on the clinical need, the maturity of technologies, and knowledge of the natural constitution of the bone tissue to be repaired.
View Article and Find Full Text PDFBone sarcomas and cancer predisposition syndromes.
Bull Cancer
January 2025
Department of Paediatric Oncology, Institut d'Haematologie et d'Oncologie Pédiatrique, Centre Léon-Bérard, Lyon, France. Electronic address:
Bone sarcomas, constituting less than 1% of malignant neoplasms across all age groups, are rare tumours possibly associated with genetic susceptibility syndromes. This review aims to provide recommendations for the detection of cancer predisposition syndromes associated with bone sarcomas and managing affected patients. Recommendations were formulated by a multidisciplinary working and reviewing group from GROUPOS and SFCE oncogenetic's group, including geneticists, oncologists, and radiologists.
View Article and Find Full Text PDFConcurrent presentation of acute lymphoblastic leukemia and bullous pemphigoid: a rare case report.
Oxf Med Case Reports
January 2025
Department of Internal Medicine, Faculty of Medicine, Hasanuddin University, Jalan Perintis Kemerdekaan KM. 11, Makassar, South Sulawesi 90245, Indonesia.
Historically, adolescents and young adults diagnosed with acute lymphoblastic leukemia (ALL) have faced lower survival rates compared to children with the same illness. Bullous pemphigoid (BP), a rare autoimmune skin disorder, poses unique challenges when occurring alongside hematologic malignancies. A 23-year-old male with ALL-L1 diagnosis who developed bullous pemphigoid in this report.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!