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https://www.readbyqxmd.com/read/28645356/-endocrine-control-of-serum-phosphate-from-the-discoveries-of-phosphatonins-to-novel-therapies
#1
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
#2
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
#3
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
https://www.readbyqxmd.com/read/28506344/-novel-phex-gene-mutations-in-patients-with-x-linked-hypophosphatemic-rickets-an-analysis-of-2-cases
#4
Qing Ran, Feng Xiong, Min Zhu, Lei-Li Deng, Pei-Yun Lei, Yan-Hong Luo, Yan Zeng, Gao-Hui Zhu, Cui Song
OBJECTIVE: To investigate PHEX gene mutations in 2 patients with X-linked hypophosphatemic rickets (XLH) and their families and to clarify the genetic etiology. METHODS: A retrospective analysis was performed for the clinical data of two patients with XLH. High-throughput sequencing was used to detect the PHEX gene, a pathogenic gene of XLH. PCR-Sanger sequencing was used to verify the distribution of mutations in families. RESULTS: Both patients had novel mutations in the PHEX gene; one patient had a frameshift mutation, c...
May 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28440087/cervical-dural-calcification-and-cervical-myelopathy-in-x-linked-hypophosphataemic-rickets-a-case-report-and-review-of-the-literature
#5
Ali A Najefi, Daniel B Beder, Shiraz A Sabah, Kia Rezajooi
X-linked hypophosphataemic rickets (XLHR) is a genetic disorder resulting from a genetic mutation in the PHEX gene. This may cause ossification of soft tissue structures risking spinal cord compression. We present the first known case of cervical dural calcification secondary to XLHR to cause myelopathic symptoms due to cord compression.
April 25, 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/28406458/behavior-of-human-osteoblast-cells-cultured-on-titanium-discs-in-relation-to-surface-roughness-and-presence-of-melatonin
#6
M Fernanda Sola-Ruiz, Carolina Perez-Martinez, Carlos Labaig-Rueda, Carmen Carda, J Javier Martín De Llano
The aim of this work was to observe the behavior of osteoblast cells cultured in vitro on titanium discs in relation to disc surface roughness and the addition of melatonin to the culture medium. MG63 osteoblast cells were cultivated on 120 Grade 5 Ti divided into three groups: Group E, treated with dual acid etch; Group EP, treated with dual acid etch and calcium phosphate; and Group M, machined. Surface roughness was examined under a laser scanning confocal microscope (CLSM) and scanning electron microscopy (SEM)...
April 13, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28397222/-identification-of-a-novel-splicing-mutation-of-phex-gene-in-a-pedigree-affected-with-x-linked-hypophosphatemia
#7
Jie Li, Peiwen Xu, Sexin Huang, Ming Gao, Yang Zou, Ranran Kang, Yuan Gao
OBJECTIVE: To identify potential mutation of PHEX gene in two patients from a family affected with X-linked hypophosphatemia (XLH). METHODS: PCR and Sanger sequencing were performed on blood samples from the patients and 100 healthy controls. Reverse transcription-PCR (RT-PCR) was used to determine the mRNA expression in patient samples. RESULTS: A splicing site mutation, IVS21+2T>G, was found in the PHEX gene in both patients but not among the 100 healthy controls...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28383812/mutational-analysis-of-phex-fgf23-and-clcn5-in-patients-with-hypophosphataemic-rickets
#8
Ayla Guven, Roua A Al-Rijjal, Huda A BinEssa, Durmuş Dogan, Yılmaz Kor, Minjing Zou, Namik Kaya, Anwar F Alenezi, Suna Hancili, Ömer Tarım, Essa Y Baitei, Walaa E Kattan, Brian F Meyer, Yufei Shi
CONTEXT: Hypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3. OBJECTIVE: To investigate underlying genetic defects in patients with hypophosphataemic rickets. METHODS: We analysed genomic DNA from nine unrelated families for mutations in the entire coding region of PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3 by PCR sequencing and copy number analysis...
April 6, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28382624/cinacalcet-as-an-alternative-to-phosphate-therapy-in-x-linked-hypophosphataemic-rickets
#9
LETTER
Uri S Alon, Dale Jarka, Penny J Monachino, Judith Sebestyen VanSickle, Tarak Srivastava
No abstract text is available yet for this article.
April 6, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28377980/the-metabolic-bone-disease-associated-with-the-hyp-mutation-is-independent-of-osteoblastic-hif1%C3%AE-expression
#10
Julia M Hum, Erica L Clinkenbeard, Colin Ip, Taryn A Cass, Matt Allen, Kenneth E White
Fibroblast growth factor-23 (FGF23) controls key responses to systemic phosphate increases through its phosphaturic actions on the kidney. In addition to stimulation by phosphate, FGF23 positively responds to iron deficiency anemia and hypoxia in rodent models and in humans. The disorder X-linked hypophosphatemia (XLH) is characterized by elevated FGF23 in concert with an intrinsic bone mineralization defect. Indeed, the Hyp mouse XLH model has disturbed osteoblast to osteocyte differentiation with altered expression of a wide variety of genes, including FGF23...
June 2017: Bone Reports
https://www.readbyqxmd.com/read/28194480/evaluation-of-bone-mineral-density-and-microarchitectural-parameters-by-dxa-and-hr-pqct-in-37-children-and-adults-with-x-linked-hypophosphatemic-rickets
#11
G P Colares Neto, R M R Pereira, J C Alvarenga, L Takayama, M F A Funari, R M Martin
In X-linked hypophosphatemic (XLH) rickets, dual-energy X-ray absorptiometry (DXA) measurements must be analyzed with caution. High-resolution peripheral quantitative computed tomography (HR-pQCT) analysis suggested that XLH primarily affects the cancellous compartment, with the tibia more affected than the radius. Effective treatment of XLH appears to positively affect bone mineralization, mainly in the bone cortex. INTRODUCTION: The purpose of this study is to evaluate bone mineral density (BMD) and microarchitecture in 37 patients (13 children and 24 adults) with XLH confirmed by PHEX mutations from a tertiary center compared to healthy controls...
February 13, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28130634/x-linked-hypophosphatemia-and-growth
#12
REVIEW
R Fuente, H Gil-Peña, D Claramunt-Taberner, O Hernández, A Fernández-Iglesias, L Alonso-Durán, E Rodríguez-Rubio, F Santos
X-Linked hypophosphatemia (XLH) is the most common form of hereditary rickets caused by loss-of function mutations in the PHEX gene. XLH is characterized by hypophosphatemia secondary to renal phosphate wasting, inappropriately low concentrations of 1,25 dihydroxyvitamin D and high circulating levels of fibroblast growth factor 23 (FGF23). Short stature and rachitic osseous lesions are characteristic phenotypic findings of XLH although the severity of these manifestations is highly variable among patients. The degree of growth impairment is not dependent on the magnitude of hypophosphatemia or the extent of legs´ bowing and height is not normalized by chronic administration of phosphate supplements and 1α hydroxyvitamin D derivatives...
March 2017: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/28025445/hypertension-is-a-characteristic-complication-of-x-linked-hypophosphatemia
#13
Yoshie Nakamura, Masaki Takagi, Ryojun Takeda, Kentaro Miyai, Yukihiro Hasegawa
X-linked hypophosphatemia (XLH) is a group of rare disorders caused by defective proximal tubular reabsorption of phosphate. Mutations in the PHEX gene are responsible for the majority of cases. There are very few reports of long-term complications of XLH other than skeletal and dental diseases. The aim of this study was to identify the phenotypic presentation of XLH during adulthood including complications other than skeletal and dental diseases. The clinical and biochemical phenotype of 22 adult patients with a PHEX gene mutation were examined retrospectively from their medical records...
March 31, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28005411/a-mutation-in-the-dmp1-gene-alters-phosphate-responsiveness-in-mice
#14
Shoji Ichikawa, Rita L Gerard-O'Riley, Dena Acton, Amie K McQueen, Isabel E Strobel, Phillip C Witcher, Jian Q Feng, Michael J Econs
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). Previously, we demonstrated that a Phex mutation in mice creates a lower set point for extracellular phosphate, where an increment in phosphorus further stimulates Fgf23 production to maintain low serum phosphorus levels...
March 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/27929669/fgf23-is-not-required-to-regulate-fetal-phosphorus-metabolism-but-exerts-effects-within-12-hours-after-birth
#15
Yue Ma, Beth J Kirby, Nicholas A Fairbridge, Andrew C Karaplis, Beate Lanske, Christopher S Kovacs
Loss of fibroblast growth factor-23 (FGF23) causes hyperphosphatemia, extraskeletal calcifications, and early mortality; excess FGF23 causes hypophosphatemia with rickets or osteomalacia. However, FGF23 may not be important during fetal development. FGF23 deficiency (Fgf23 null) and FGF23 excess (Phex null) did not alter fetal phosphorus or skeletal parameters. In this study, we further tested our hypothesis that FGF23 is not essential for fetal phosphorus regulation but becomes important after birth. Although coreceptor Klotho null adults have extremely high FGF23 concentrations, intact FGF23 was normal in Klotho null fetuses, as were fetal phosphorus and skeletal parameters and placental and renal expression of FGF23 target genes...
February 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/27901202/in-vivo-performance-of-different-scaffolds-for-dental-pulp-stem-cells-induced-for-odontogenic-differentiation
#16
Cigdem Atalayin, Huseyin Tezel, Taner Dagci, Nefise Ulku Karabay Yavasoglu, Gulperi Oktem, Timur Kose
This study was designed to determine the in vivo performance of three different materials as scaffolds for dental pulp stem cells (DPSC) undergoing induced odontogenic differentiation. An odontogenic medium modified by the addition of recombinant human bone morphogenetic protein 2 was used in the experimental groups to induce differentiation. Mesenchymal stem cell medium was used in the control groups. DPSC were transplanted onto the backs of mice via three scaffolds: copolymer of L-lactide and DL-lactide (PLDL), copolymer of DL-lactide (PDL) and hydroxyapatite tricalcium phosphate (HA/TCP)...
November 28, 2016: Brazilian Oral Research
https://www.readbyqxmd.com/read/27884786/osteopontin-and-the-dento-osseous-pathobiology-of-x-linked-hypophosphatemia
#17
Tchilalo Boukpessi, Betty Hoac, Benjamin R Coyac, Thibaut Leger, Camille Garcia, Philippe Wicart, Michael P Whyte, Francis H Glorieux, Agnès Linglart, Catherine Chaussain, Marc D McKee
Seven young patients with X-linked hypophosphatemia (XLH, having inactivating PHEX mutations) were discovered to accumulate osteopontin (OPN) at the sites of defective bone mineralization near osteocytes - the so-called hallmark periosteocytic (lacunar) "halos" of XLH. OPN was also localized in the pericanalicular matrix extending beyond the osteocyte lacunae, as well as in the hypomineralized matrix of tooth dentin. OPN, a potent inhibitor of mineralization normally degraded by PHEX, is a member of a family of acidic, phosphorylated, calcium-binding, extracellular matrix proteins known to regulate dental, skeletal, and pathologic mineralization...
February 2017: Bone
https://www.readbyqxmd.com/read/27824602/exercise-pulmonary-haemodynamics-predict-outcome-in-patients-with-systemic-sclerosis
#18
Adriana Stamm, Stéphanie Saxer, Mona Lichtblau, Elisabeth D Hasler, Suzana Jordan, Lars C Huber, Konrad E Bloch, Oliver Distler, Silvia Ulrich
The aim of the present study was to investigate the prognostic value of exercise haemodynamics measured during right heart catheterisation (RHC) in patients with systemic sclerosis (SSc) referred for evaluation of pulmonary hypertension.SSc patients undergoing RHC at rest and during maximal supine incremental cycle exercise were grouped into resting precapillary pulmonary hypertension (PHrest) (mean pulmonary artery pressure (mPAP) ≥25 mmHg, pulmonary artery wedge pressure <15 mmHg), exercise-induced pulmonary hypertension (PHex) (mPAP ≥30 mmHg and mPAP/cardiac output >3 mmHg·L(-1)·min(-1) at maximal exercise), and without pulmonary hypertension (PHnone)...
December 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/27733274/treatment-of-ear-and-bone-disease-in-the-phex-mouse-mutant-with-dietary-supplementation
#19
Cameron C Wick, Sharon J Lin, Heping Yu, Cliff A Megerian, Qing Yin Zheng
HYPOTHESIS: Phosphorus and vitamin D (calcitriol) supplementation in the Phex mouse, a murine model for endolymphatic hydrops (ELH), will improve otic capsule mineralization and secondarily ameliorate the postnatal development of ELH and sensorineural hearing loss (SNHL). BACKGROUND: Male Phex mice have X-linked hypophosphatemic rickets (XLH), which includes osteomalacia of the otic capsule. The treatment for XLH is supplementation with phosphorus and calcitriol...
January 2017: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/27543794/engaging-caregivers-exploring-perspectives-on-web-based-health-information
#20
Tabitha Tonsaker, Susan Law, Ilja Ormel, Cecilia Nease, Gillian Bartlett
BACKGROUND: Informal or family caregivers are important contributors to health and health care and require support to sustain their role and address particular challenges. An experience-based health website may be an accessible, effective way to offer caregivers peer support and ultimately better equip them to care for themselves and their loved ones. OBJECTIVES: This study investigated how caregivers access and use information on the Internet about caregiving and their perspectives on the design and features of a new personal health experiences (PHEx) website...
August 20, 2016: Family Practice
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