Results 41 to 50 of about 4,812 (192)

X-linked hypophosphatemic rickets: Case report [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2014
Introduction. X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease caused by isolated renal phosphate wasting and impairment of vitamin D activation.
Radlović Vladimir, Smoljanić Željko, Radlović Nedeljko, Leković Zoran, Ristić Dragana, Dučić Siniša, Pavićević Polina   +6 more
doaj   +1 more source

Surgical management of intracranial hypertension in rickets-related craniosynostosis

Interdisciplinary Neurosurgery
Hypophosphatemic rickets is occasionally associated with craniosynostosis. Delayed diagnosis can result in intracranial hypertension, potentially leading to serious neurological complications.
Alessio Iacoangeli, Sergio Capelli, Andrea Held, Emidio Procaccini, Davide Luglietto, Matteo Barba, Alessandro De Benedictis, Carlo Gandolfo, Carlo Efisio Marras   +8 more
doaj   +1 more source

Hypophosphatemic Rickets in Colombia: A Prevalence-Estimation Model in Rare Diseases. 2018

The Lancet Regional Health. Americas, 2022
Summary: Background: Hypophosphatemic rickets is a rare, genetic syndrome with multisystem involvement. It causes skeletal abnormalities, painful enthesopathies, increased risk of fracture, and short stature; leading to a substantial burden of disease ...
Jancy Andrea Huertas-Quintero, MD, MSc, Natalia Losada-Trujillo, MD, Diego Alberto Cuellar-Ortiz, MSc, Harvy Mauricio Velasco-Parra, MD   +3 more
doaj   +1 more source

Characterization of native FGF23 protein and mutant forms causing autosomal dominant hypophosphatemic rickets and familial tumoral calcinosis [PDF]

, 2005
The regulation of phosphate metabolism is a complex process that is still only partly understood. At the end of the eighties, studies in a mouse model for hypophosphatemic rickets provided evidence that phosphate wasting could not be explained by a ...
Benet-Pagès, Anna, Benet-Pagès, A.
core  

Cervical Ossification of Posterior Longitudinal Ligament in X-Linked Hypophosphatemic Rickets Revealing Homogeneously Increased Vertebral Bone Density [PDF]

Asian Spine Journal, 2015
There is no report that describes in detail the radiological and intraoperative findings of rickets with symptomatic cervical ossification of the posterior longitudinal ligament. Here, we describe a case of X-linked hypophosphatemic rickets with cervical
Masato Shiba, Masaki Mizuno, Keita Kuraishi, Hidenori Suzuki   +3 more
doaj   +1 more source

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

Periodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer, Luigi Nibali, Noha Zoheir, Niki M. Moutsopoulos, Bruno G. Loos   +4 more
wiley   +1 more source

Periodontitis and Periodontal Conditions in Systemically Healthy Children and Adolescents

Journal of Clinical Periodontology, Volume 53, Issue 7, Page 1100-1198, July 2026.
ABSTRACT Objective To answer the PICoS question ‘in systemically healthy children and adolescents (Population), what are the main features of periodontitis, necrotising periodontal diseases (NPD) and other periodontal conditions (periodontal abscesses, endo‐periodontal lesions, traumatic occlusal forces, prosthesis‐ and tooth‐related factors ...
Inbar Eshkol‐Yogev, Nagore Ambrosio, Cheryl Somani, Elena Figuero, Lior Shapira, Janet Davies   +5 more
wiley   +1 more source

Dental manifestations of the hypophosphatemic rickets: A case report [PDF]

Stomatološki glasnik Srbije, 2020
Rickets is a disorder of bone mineralization in children's skeleton. It is most often associated with vitamin D deficiency, however, it can also occur due to a decrease in serum phosphate levels, which leads to inadequate tissue mineralization, with ...
Popović Jelena, Nikolić Marija, Barac Radomir, Stošić Nenad, Kostić Milena, Miljković Dušan, Miljković Petar   +6 more
doaj  

A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome

Frontiers in Endocrinology, 2022
Epidermal nevus syndromes encompass a highly heterogeneous group of systemic disorders, characterized by epidermal nevi, and a spectrum of neuromuscular, ocular, and bone abnormalities.
Lea Maria Merz, Florian Buerger, Niels Ziegelasch, Martin Zenker, Ilse Wieland, Tobias Lipek, Tillmann Wallborn, Nicolas Terliesner, Freerk Prenzel, Manuela Siekmeyer, Katalin Dittrich   +10 more
doaj   +1 more source

Microstructural Evidence for Early Childhood Stress in a Community in Transition at Hisban, Jordan

American Journal of Biological Anthropology, Volume 190, Issue 2, June 2026.
ABSTRACT Objectives Identification of stress across infancy and childhood can reflect maternal and environmental influences on early life health. In the 19th century community of Hisban, many infants died before 2 years of age with evidence of metabolic disease, including rickets, that likely ties with maternal health.
Kristina Cockerille, Akacia Propst, Bonnie Kahlon, Daniel Temple, Megan Perry   +4 more
wiley   +1 more source