×
About 4,802 results
Burosumab Therapy in Children with X-Linked Hypophosphatemia.
https://doi.org/10.1056/NEJMoa1714641
The New England Journal of Medicine; Carpenter TO, Whyte MP et. al.

May 23rd, 2018 - X-linked hypophosphatemia is characterized by increased secretion of fibroblast growth factor 23 (FGF-23), which leads to hypophosphatemia and consequently rickets, osteomalacia, and skeletal deformities. We investigated burosumab, a monoclonal antibody that targets FGF-23, in patients with X-linked hypophosphatemia. In an open-label, phase 2 trial, we randomly assigned 52 children with X-linke...

Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a ra...
https://doi.org/10.1016/S0140-6736(19)30654-3
Lancet (London, England); Imel EA, Glorieux FH et. al.

May 20th, 2019 - X-linked hypophosphataemia in children is characterised by elevated serum concentrations of fibroblast growth factor 23 (FGF23), hypophosphataemia, rickets, lower extremity bowing, and growth impairment. We compared the efficacy and safety of continuing conventional therapy, consisting of oral phosphate and active vitamin D, versus switching to burosumab, a fully human monoclonal antibody again...

Burosumab treatment of children with X-linked hypophosphataemic rickets.
https://doi.org/10.1016/S0140-6736(19)31054-2
Lancet (London, England); Gordon RJ, Levine MA

May 20th, 2019 - Burosumab treatment of children with X-linked hypophosphataemic rickets.|2019|Gordon RJ,Levine MA,|

Effect of Higher vs Standard Dosage of Vitamin D3 Supplementation on Bone Strength and ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6137511
JAMA Pediatrics; Rosendahl J, Valkama S et. al.

May 30th, 2018 - Although guidelines for vitamin D supplementation in infants have been widely implemented, they are mostly based on studies focusing on prevention of rickets. The optimal dose for bone strength and infection prevention in healthy infants remains unclear. To determine whether daily supplementation with 1200 IU of vitamin D3 increases bone strength or decreases incidence of infections in the firs...

Epidermal nevus syndromes: New insights into whorls and swirls.
https://doi.org/10.1111/pde.13273
Pediatric Dermatology; Asch S, Sugarman JL

Oct 18th, 2017 - Knowledge of the molecular underpinnings of many epidermal nevi and epidermal nevus syndrome has expanded rapidly in recent years. In this review and update on epidermal nevus syndrome, we will cover recent genetic discoveries involving epidermal nevi, including nevus sebaceus, keratinocytic epidermal nevus, nevus comedonicus, congenital hemidysplasia with ichthyosiform nevus and limb defects s...

Malignant cardiac phenotypic expression of Danon disease (LAMP2 cardiomyopathy).
https://doi.org/10.1016/j.ijcard.2017.06.031
International Journal of Cardiology; Samad F, Jain R et. al.

Sep 6th, 2017 - Danon disease is an X-linked lysosomal condition that causes a deficiency of lysosome-associated membrane protein 2 (LAMP2) gene. It is characterized clinically by a triad of skeletal myopathy, cardiomyopathy, and intellectual disability. We examined clinical, echocardiographic, and genetic data on 5 patients with Danon disease, highlighting their clinical course and outcomes. All patients pres...

The FOP Connection Registry: Design of an international patient-sponsored registry for ...
https://doi.org/10.1016/j.bone.2017.08.032
Bone Mantick N, Bachman E et. al.

Sep 3rd, 2017 - The Fibrodysplasia Ossificans Progressiva (FOP) Connection Registry is an international, voluntary, observational study that directly captures demographic and disease information initially from patients with FOP (the patient portal) and in the near future from treating physicians (the physician portal) via a secure web-based tool. It was launched by the International FOP Association (IFOPA) wit...

Neural tube defects in Waardenburg syndrome: A case report and review of the literature.
https://doi.org/10.1002/ajmg.a.38325
American Journal of Medical Genetics. Part A; Hart J, Miriyala K

Jul 7th, 2017 - Waardenburg syndrome type 1 (WS1) is an autosomal dominant genetic condition characterized by sensorineural deafness and pigment abnormalities, and is caused by variants in the PAX3 homeodomain. PAX3 variants have been associated with severe neural tube defects in mice and humans, but the frequency and clinical manifestations of this symptom remain largely unexplored in humans. Consequently, th...

Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5493013
Orphanet Journal of Rare Diseases; Baujat G, Choquet R et. al.

Jul 1st, 2017 - Fibrodysplasia ossificans progressiva (FOP) is a rare, severely disabling, and life-shortening genetic disorder that causes the formation of heterotopic bone within soft connective tissue. Previous studies found that the FOP prevalence was about one in every two million lives. The aim of this study is to estimate the FOP prevalence in France by probabilistic record-linkage of 2 national databas...

International physician survey on management of FOP: a modified Delphi study.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5468985
Orphanet Journal of Rare Diseases; Di Rocco M, Baujat G et. al.

Jun 13th, 2017 - Fibrodysplasia ossificans progressiva (FOP), a disabling disorder of progressive heterotopic ossification (HEO), is caused by heterozygous gain-of- function mutations in Activin receptor A, type I (ACVR1, also known as ALK2), a bone morphogenetic protein (BMP) type I receptor. Presently, symptomatic management is possible, but no definitive treatments are available. Although extensive guideline...

Phacomatosis Pigmentokeratotica: A Mosaic RASopathy with Malignant Potential.
https://doi.org/10.1111/pde.13119
Pediatric Dermatology; Om A, Cathey SS et. al.

May 19th, 2017 - Phacomatosis pigmentokeratotica (PPK) is a rare epidermal nevus syndrome characterized by the co-occurrence of a nevus sebaceous arranged along the lines of Blaschko with a speckled lentiginous nevus (SLN). We report a novel KRAS mutation in a patient with a large nevus sebaceous and an SLN who subsequently developed a vaginal botryoid rhabdomyosarcoma, an association not previously reported in...

The congenital great toe malformation of fibrodysplasia ossificans progressiva? - A clo...
https://doi.org/10.1016/j.ejmg.2017.04.013
European Journal of Medical Genetics; Towler OW, Shore EM et. al.

May 5th, 2017 - Congenital bilateral hallux valgus with associated absence or fusion of the interphalangeal joint is a classic diagnostic feature of fibrodysplasia ossificans progressiva (FOP), a human genetic disease of extra-skeletal bone formation caused in nearly all cases by a gain-of-function mutation in Activin A Receptor I/Activin-like Kinase 2 (ACVR1/ALK2), which encodes a bone morphogenetic protein (...

Sinonasal imaging findings in granulomatosis with polyangiitis (Wegener granulomatosis)...
https://doi.org/10.2500/ajra.2017.31.4408
American Journal of Rhinology & Allergy; D'Anza B, Langford CA et. al.

Feb 24th, 2017 - Granulomatosis with polyangiitis (GPA) (Wegener granulomatosis) frequently presents in the head and neck, and the sinonasal cavity is among the most common areas affected. Although the clinical findings, histologic appearance, and laboratory workup have been described, characteristic findings and the distribution of disease on sinonasal imaging are not well established. The appropriate imaging ...

Renal cystic disease and associated ciliopathies.
https://doi.org/10.1097/GCO.0000000000000348
Current Opinion in Obstetrics & Gynecology; Kagan KO, Dufke A et. al.

Feb 5th, 2017 - To review disorders that are associated with renal cystic disease during prenatal life and to highlight the strong association between renal cystic disease and ciliopathies. There are numerous causative genes for ciliopathies that can present with cystic kidney disease. In the group of single gene ciliopathies, autosomal dominant polycystic kidney disease is by far the most prevalent one. Other...

Current Knowledge and Priorities for Future Research in Late Effects after Hematopoieti...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423755
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation; Dietz AC, Mehta PA et. al.

Jan 24th, 2017 - Fanconi anemia (FA), dyskeratosis congenita (DC), and Diamond Blackfan anemia (DBA) are 3 of the most common inherited bone marrow failure syndromes (IBMFS), in which the hematologic manifestations can be cured with hematopoietic cell transplantation (HCT). Later in life, these patients face a variety of medical conditions, which may be a manifestation of underlying disease or due to pre-HCT th...

A Mutation in the Dmp1 Gene Alters Phosphate Responsiveness in Mice.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5460778
Endocrinology Ichikawa S, Gerard-O'Riley RL et. al.

Dec 22nd, 2016 - Mutations in the dentin matrix protein 1 (DMP1) gene cause autosomal recessive hypophosphatemic rickets (ARHR). Hypophosphatemia in ARHR results from increased circulating levels of the phosphaturic hormone, fibroblast growth factor 23 (FGF23). Similarly, elevated FGF23, caused by mutations in the PHEX gene, is responsible for the hypophosphatemia in X-linked hypophosphatemic rickets (XLH). Pre...

Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutati...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5367968
Bone Dhir G, Li D et. al.

Dec 12th, 2016 - To identify a genetic basis for markedly reduced bone density and multiple fractures in an adult patient with hypophosphatemia and hypercalciuria. A 54-year-old Vietnamese man, his unaffected two daughters and wife. We performed biochemical studies and sequenced the SLC34A3 gene using genomic DNA from peripheral blood mononuclear cells. Biochemical evaluation of the proband revealed hypophospha...

Nutritional rickets around the world: an update.
https://doi.org/10.1080/20469047.2016.1248170
Paediatrics and International Child Health; Creo AL, Thacher TD et. al.

Dec 6th, 2016 - Worldwide, nutritional rickets continues to be an evolving problem with several causes. This paper provides an updated literature review characterising the prevalence, aetiology, pathophysiology and treatment of nutritional rickets worldwide. A systematic review of articles on nutritional rickets from various geographical regions was undertaken. For each region, key information was extracted, i...

Identification of Two Novel LAMP2 Gene Mutations in Danon Disease.
https://doi.org/10.1016/j.cjca.2016.02.071
The Canadian Journal of Cardiology; Csányi B, Popoiu A et. al.

Oct 29th, 2016 - Danon disease is a rare X-linked inherited disorder characterized by massive left ventricular hypertrophy, skeletal muscle dystrophy, and mental retardation. The disease is caused by mutations in the LAMP2 gene encoding for lysosome-associated membrane protein-2. Two young male patients with hypertrophic cardiomyopathy, characterized by marked, concentric left ventricular hypertrophy, elevated ...

Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage somatic mosaic RA...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5004488
Journal of the American Academy of Dermatology; Lim YH, Ovejero D et. al.

Jul 22nd, 2016 - We recently demonstrated multilineage somatic mosaicism in cutaneous skeletal hypophosphatemia syndrome (CSHS), which features epidermal or melanocytic nevi, elevated fibroblast growth factor (FGF)-23, and hypophosphatemia, finding identical RAS mutations in affected skin and bone. We sought to: (1) provide an updated overview of CSHS; (2) review its pathobiology; (3) present a new patient with...