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https://www.readbyqxmd.com/read/29460029/outcome-of-adult-patients-with-x-linked-hypophosphatemia-caused-by-phex-gene-mutations
#1
Douglas Chesher, Michael Oddy, Ulpee Darbar, Parag Sayal, Adrian Casey, Aidan Ryan, Annalisa Sechi, Charlotte Simister, Aoife Waters, Yehani Wedatilake, Robin H Lachmann, Elaine Murphy
X-linked hypophosphatemia (XLH) is the most common monogenic disorder causing hypophosphatemia. This case-note review documents the clinical features and the complications of treatment in 59 adults (19 male, 40 female) with XLH. XLH is associated with a large number of private mutations; 37 different mutations in the PHEX gene were identified in this cohort, 14 of which have not been previously reported. Orthopaedic involvement requiring surgical intervention (osteotomy) was frequent. Joint replacement and decompressive laminectomy were observed in those older than 40 years...
February 19, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29393334/two-novel-variants-of-the-phex-gene-in-patients-with-x%C3%A2-linked-dominant-hypophosphatemic-rickets-and-prenatal-diagnosis-for-fetuses-in-these-families
#2
Hong Liao, Hong-Mei Zhu, Hong-Qian Liu, Ling-Ping Li, Shan-Ling Liu, He Wang
X‑linked hypophosphatemic rickets (XLHR; OMIM 307800) is an X‑linked dominant disorder caused by mutations in the phosphate‑regulating neutral endopeptidase homolog X‑linked (PHEX) gene, which is located at Xp22.11. In the present study, two novel variants of the PHEX gene were identified in two unrelated families with XLHR by directly sequencing all 22 exon regions and intron/exon boundaries of the PHEX gene. One missense variant, NM_000444.5: c.1721T>A, was identified in exon 17 of the PHEX gene in Family 1, which led to an amino acid change in the p...
January 18, 2018: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29381780/x-linked-hypophosphatemia-and-fgf23-related-hypophosphatemic-diseases-prospect-for-new-treatment
#3
Yuka Kinoshita, Seiji Fukumoto
Phosphate plays essential roles in many biological processes, and the serum phosphate level is tightly controlled. Chronic hypophosphatemia causes impaired mineralization of the bone matrix and results in rickets and osteomalacia. Fibroblast growth factor 23 (FGF23) is a bone-derived hormone that regulates phosphate metabolism. FGF23 excess induces hypophosphatemia via impaired phosphate reabsorption in the renal proximal tubules and decreased phosphate absorption in the intestines. There are several types of genetic and acquired form of FGF23-related hypophosphatemic diseases...
January 26, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29345071/detecting-selection-signatures-on-the-x-chromosome-of-the-chinese-debao-pony
#4
X-X Liu, J-F Pan, Q-J Zhao, X-H He, Y-B Pu, J-L Han, Y-H Ma, L Jiang
The X chromosome shows a special interaction between demographic factors and genetic variation, and the analysis of X-linked genomic variation can therefore provide insights into the unique effects of demography and selection on the horse genome that cannot be readily detected by autosomal markers. Debao (DB) ponies have experienced intense selective pressure for the development of their small stature (<106 cm at adult height). To identify selective sweeps on the X chromosome of the DB pony, we performed a genome-wide scan of three Chinese horse breeds using an Equine SNP70 BeadChip...
February 2018: Journal of Animal Breeding and Genetics, Zeitschrift Für Tierzüchtung und Züchtungsbiologie
https://www.readbyqxmd.com/read/29259966/x-linked-hypophosphatemic-rickets-del-2-q37-1-q37-3-deletion-syndrome-and-mosaic-turner-syndrome-mos-45-x-46-x-del-2-q37-1-q37-3-in-a-3-year-old-female
#5
Alaina P Vidmar, Brian Miyazaki, Pedro A Sanchez-Lara, Pisit Pitukcheewanont
There are currently no published cases that report concomitant Turner syndrome (TS), 2q37 deletion syndrome and X-linked hypophosphatemic rickets (XLH). Interestingly, since the clinical phenotypes of TS and 2q37 deletion syndrome overlap, the correct diagnosis may be missed without a standardized approach to genetic testing consisting of both karyotype and microarray. Both chromosome anomalies have been associated with short stature and a variety of skeletal abnormalities however to date no reports have associated these syndromes in association with a phosphate regulating endopeptidase homolog, X-linked (PHEX) gene deletion resulting in XLH...
November 2017: Journal of Bone Metabolism
https://www.readbyqxmd.com/read/29215722/fgf-2-promotes-osteocyte-differentiation-through-increased-e11-podoplanin-expression
#6
Ekele Ikpegbu, Lena Basta, Dylan N Clements, Robert Fleming, Tonia L Vincent, David J Buttle, Andrew A Pitsillides, Katherine A Staines, Colin Farquharson
E11/podoplanin is critical in the early stages of osteoblast-to-osteocyte transitions (osteocytogenesis) however the upstream events which regulate E11 expression are unknown. The aim of this study was to examine the effects of FGF-2 on E11-mediated osteocytogenesis and to reveal the nature of the underlying signaling pathways regulating this process. Exposure of MC3T3 osteoblast-like cells and murine primary osteoblasts to FGF-2 (10ng/ml) increased E11 mRNA and protein expression (P < 0.05) after 4, 6 and 24 hours...
December 7, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29213174/x-linked-hypophosphatemic-rickets-phex-mutation-a-case-report-and-literature-review
#7
Badi Alenazi, M A Maleque Molla, Abdullah Alshaya, Mahmoud Saleh
Hypophosphatemic rickets is a rare form of rickets that affect children. The diagnosis requires high index of suspicion. We report a case of Hypophosphatemic rickets in 18-month-old Saudi boy presented with delayed walking and lower limb deformity. The diagnosis was confirmed by bone profile, radiological study and genetic testing, which reveled PHEX mutation. The patient was successfully treated by phosphate supplement.
2017: Sudanese Journal of Paediatrics
https://www.readbyqxmd.com/read/29141319/-homozygous-ectonucleotide-pyrophosphatase-phosphodiesterase-1-variants-in-a-girl-with-hypophosphatemic-rickets-and-literature-review
#8
Z Q Liu, X B Chen, F Y Song, K Gao, M F Qiu, Y Qian, M Du
Objective: To investigate the clinical features and genetic characteristics of patients with ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene variants. Method: The clinical data of a patient with ENPP1 homozygous variants from Capital Institute of Pediatrics was collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center from Biotechnology Information and PubMed by using search term "ENPP1" , "hypophosphatemic rickets" ...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29040309/targeted-pth4-expressing-cell-ablation-impairs-skeletal-mineralization-in-zebrafish
#9
Paula Suarez-Bregua, Ankur Saxena, Marianne E Bronner, Josep Rotllant
Skeletal development and mineralization are essential processes driven by the coordinated action of neural signals, circulating molecules and local factors. Our previous studies revealed that the novel neuropeptide Pth4, synthesized by hypothalamic cells, was involved in bone metabolism via phosphate regulation in adult zebrafish. Here, we investigate the role of pth4 during skeletal development using single-cell resolution, two-photon laser ablation of Pth4:eGFP-expressing cells and confocal imaging in vivo...
2017: PloS One
https://www.readbyqxmd.com/read/28982589/identification-of-a-novel-loss-of-function-phex-mutation-ala720ser-in-a-sporadic-case-of-adult-onset-hypophosphatemic-osteomalacia
#10
Katarzyna Goljanek-Whysall, Andreas Tridimas, Rachel McCormick, Nicki-Jayne Russell, Melissa Sloman, Alan Sorani, William D Fraser, Fadil M Hannan
Adults presenting with sporadic hypophosphatemia and elevations in circulating fibroblast growth factor-23 (FGF23) concentrations are usually investigated for an acquired disorder of FGF23 excess such as tumor induced osteomalacia (TIO). However, in some cases the underlying tumor is not detected, and such patients may harbor other causes of FGF23 excess. Indeed, coding-region and 3'UTR mutations of phosphate-regulating neutral endopeptidase (PHEX), which encodes a cell-surface protein that regulates circulating FGF23 concentrations, can lead to alterations in phosphate homeostasis, which are not detected until adulthood...
October 3, 2017: Bone
https://www.readbyqxmd.com/read/28981921/-mutational-analysis-and-prenatal-diagnosis-in-a-family-affected-with-hypophosphatemic-rickets
#11
Zhaotang Luan, Huanzheng Li, Lin Hu, Chong Chen, Xueqin Xu, Yanbao Xiang, Shaohua Tang
OBJECTIVE: To explore the clinical characteristics and genetic mutation in a family affected with hypophosphatemic rickets. METHODS: Whole exome sequencing (WES) was used to screen potential mutations in genomic DNA extracted from peripheral venous blood sample from the proband. Suspected mutation was confirmed with Sanger sequencing. Amniotic fluid was sampled from the proband for prenatal diagnosis. Potential maternal contamination was excluded by analysis of short tandem repeat (STR) markers...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28954742/outcomes-of-orthopedic-surgery-in-a-cohort-of-49-patients-with-x-linked-hypophosphatemic-rickets-xlhr
#12
A Gizard, A Rothenbuhler, Z Pejin, G Finidori, C Glorion, B de Billy, A Linglart, P Wicart
BACKGROUND: X-linked hypophosphatemic rickets (XLHR) is due to mutations in PHEX leading to unregulated production of FGF23 and hypophosphatemia. XLHR is characterized by leg bowing of variable severity. Phosphate supplements and oral vitamin analogs, partially or, in some cases, fully restore the limb straightness. Surgery is the alternative for severe or residual limb deformities. OBJECTIVE: To retrospectively assess the results of surgical limb correction in XLHR (osteotomies and bone alignment except for 3 transient hemiepiphysiodesis)...
November 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28928248/carbonic-anhydrase-iii-protects-osteocytes-from-oxidative-stress
#13
Chao Shi, Yuhei Uda, Christopher Dedic, Ehab Azab, Ningyuan Sun, Amira I Hussein, Christopher A Petty, Keertik Fulzele, Maria C Mitterberger-Vogt, Werner Zwerschke, Renata Pereira, Kunzheng Wang, Paola Divieti Pajevic
Osteocytes are master orchestrators of bone remodeling; they control osteoblast and osteoclast activities both directly via cell-to-cell communication and indirectly via secreted factors, and they are the main postnatal source of sclerostin and RANKL (receptor activator of NF-kB ligand), two regulators of osteoblast and osteoclast function. Despite progress in understanding osteocyte biology and function, much remains to be elucidated. Recently developed osteocytic cell lines-together with new genome editing tools-has allowed a closer look at the biology and molecular makeup of these cells...
September 19, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28880715/defective-mineralization-in-x-linked-hypophosphatemia-dental-pulp-cell-cultures
#14
B R Coyac, B Hoac, P Chafey, G Falgayrac, L Slimani, P S Rowe, G Penel, A Linglart, M D McKee, C Chaussain, C Bardet
X-linked hypophosphatemia (XLH) is a skeletal disease caused by inactivating mutations in the PHEX gene. Mutated or absent PHEX protein/enzyme leads to a decreased serum phosphate level, which cause mineralization defects in the skeleton and teeth (osteomalacia/odontomalacia). It is not yet altogether clear whether these manifestations are caused solely by insufficient circulating phosphate availability for mineralization or also by a direct, local intrinsic effect caused by impaired PHEX activity. Here, we evaluated the local role of PHEX in a 3-dimensional model of extracellular matrix (ECM) mineralization...
September 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28822957/two-year-recombinant-human-growth-hormone-rhgh-treatment-is-more-effective-in-pre-pubertal-compared-to-pubertal-short-children-with-x-linked-hypophosphatemic-rickets-xlhr
#15
Anya Rothenbuhler, Laure Esterle, Iva Gueorguieva, Jean-Pierre Salles, Brigitte Mignot, Michel Colle, Agnes Linglart
CONTEXT: Twenty-five to 40% of patients with well-controlled X-linked hypophosphatemic rickets (XLHR) have a final height under -2 SDS. Previous studies have shown that recombinant human growth hormone (rhGH) treatment improves linear growth in short children with XLHR. OBJECTIVE: We studied the effectiveness of rhGH treatment in children with XLHR in a larger cohort. DESIGN: Monocentric, prospective, non-randomized trial. SETTING: University hospital in France...
August 15, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/28764922/tissue-specific-mineralization-defects-in-the-periodontium-of-the-hyp-mouse-model-of-x-linked-hypophosphatemia
#16
Benjamin R Coyac, Guillaume Falgayrac, Brigitte Baroukh, Lotfi Slimani, Jérémy Sadoine, Guillaume Penel, Martin Biosse-Duplan, Thorsten Schinke, Agnès Linglart, Marc D McKee, Catherine Chaussain, Claire Bardet
X-linked hypophosphatemia (XLH) is a dento-osseous disorder caused by inactivating mutations in the PHEX gene, leading to renal phosphate wasting and hypophosphatemia, and impaired mineralization of bones and teeth. In the oral cavity, recent reports suggest a higher susceptibility of XLH patients to periodontitis, where patients present with impaired tooth cementum - a bone-like tissue involved in tooth attachment to the jaw bones and post-eruption tooth positioning - and a higher frequency of intrabony defects...
July 29, 2017: Bone
https://www.readbyqxmd.com/read/28728941/comparison-of-calcimimetic-r568-and-calcitriol-in-mineral-homeostasis-in-the-hyp-mouse-a-murine-homolog-of-x-linked-hypophosphatemia
#17
Maren Leifheit-Nestler, Julia Kucka, Emi Yoshizawa, Geert Behets, Patrick D'Haese, Christian Bergen, Martin Meier, Dagmar-Christiane Fischer, Dieter Haffner
X-linked hypophosphatemia (XLH) caused by mutations in the Phex gene is the most common human inherited phosphate wasting disorder characterized by enhanced synthesis of fibroblast growth factor 23 (FGF23) in bone, renal phosphate wasting, 1,25(OH)2D3 (1,25D) deficiency, rickets and osteomalacia. Here we studied the effects of calcimimetic R568 and calcitriol treatment in the Hyp mouse, a murine homolog of XLH. We hypothesized that mineral homeostasis is differentially affected by R568 and 1,25D with respect to the PTH-vitamin D-FGF23-Klotho axis and bone health...
July 18, 2017: Bone
https://www.readbyqxmd.com/read/28645356/-endocrine-control-of-serum-phosphate-from-the-discoveries-of-phosphatonins-to-novel-therapies
#18
A Linglart, C Chaussain
Phosphate is absorbed through the gut, stored in the bone and reabsorbed through the proximal renal tubule. More importantly, PTH and FGF23 have been identified as the main phosphaturic factors that control the expression of the phosphate co-transporters NaPi-IIa et IIc. By allowing the adjustment of the urinary phosphate reabsorption, these two phosphatonins play a major role in bone and tooth mineralization and growth. Recently, novel therapies have successfully targeted the FGF23 signaling pathway to treat the hypophosphatemia in patients affected with molecular defects of this pathway (mutations in the PHEX gene)...
October 2016: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28603101/pancreatic-head-excavation-for-tissue-diagnosis-may-reduce-unnecessary-pancreaticoduodenectomies-in-the-setting-of-chronic-pancreatitis
#19
Alessandro Fancellu, Giorgio C Ginesu, Claudio F Feo, Maria L Cossu, Marco Puledda, Antonio Pinna, Alberto Porcu
BACKGROUND: The necessity to obtain a tissue diagnosis of cancer prior to pancreatic surgery still remains an open debate. In fact, a non-negligible percentage of patients undergoing pancreaticoduodenectomy (PD) for suspected cancer has a benign lesion at final histology. We describe an approach for patients with diagnostic uncertainty between cancer and chronic pancreatitis, with the aim of minimizing the incidence of PD for suspicious malignancy finally diagnosed as benign disease. METHODS: Eighty-eight patients (85...
June 2017: Hepatobiliary & Pancreatic Diseases International: HBPD INT
https://www.readbyqxmd.com/read/28507207/role-of-osteocytes-in-mediating-bone-mineralization-during-hyperhomocysteinemia
#20
Viji Vijayan, Sarika Gupta
Hyperhomocysteinemia (HHCY) is a risk factor for osteoporosis but whether HHCY affects bone mineralization or not is still ambiguous. Herein we evaluated whether homocysteine affects tissue mineral density (TMD) of cortical bone and if so the role of osteocytes. CD1 mice administered with homocysteine (5 mg/100 g body weight, i.p.) for 7, 15 and 30 days showed temporal changes in TMD and osteocyte lacunar density in femoral cortices. Short-term administration of homocysteine (day 7) increased osteocyte lacunar density and reduced TMD evidenced by microCT50 while prolonged administration of homocysteine (day 30) reinstated TMD and lacunar density to baseline values...
June 2017: Journal of Endocrinology
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