Results 41 to 50 of about 11,040 (189)

Burosumab treatment in a child with cutaneous skeletal hypophosphatemia syndrome: A case report

Bone Reports, 2021
Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a rare disorder caused by somatic mosaicism for the gain of function RAS mutations . Affected patients have segmental epidermal nevi, dysplastic cortical bony lesions, and fibroblast growth factor-23
Manal Khadora, M. Zulf Mughal
doaj   +1 more source

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

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

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 and population analyses implicate thyroid‐related regulation of RNF144B in chondrocalcinosis

Arthritis &Rheumatology, Accepted Article.
Objectives Chondrocalcinosis, characterized by calcium crystal deposition within articular cartilage, affects 5–15% of the general population and has recently been identified as an osteoarthritis risk factor. However, Its biological pathways remain unclear.
Yahong Wu, Yanning Xu, Paul C. Okoro, Sirine Saafi, Jard de Vries, Xiaoyi Qi, Edwin H.G. Oei, Sita Bierma‐Zeinstra, Trudy Voortman, David Felson, Joyce BJ van Meurs, Layal Chaker, J. Mark Wilkinson, Michelle S. Yau, Jessica Bertrand, Cindy G. Boer   +15 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

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