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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
#1
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
#2
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...
January 27, 2017: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/28025445/hypertension-is-a-characteristic-complication-of-x-linked-hypophosphatemia
#3
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...
December 27, 2016: Endocrine Journal
https://www.readbyqxmd.com/read/28005411/a-mutation-in-the-dmp1-gene-alters-phosphate-responsiveness-in-mice
#4
Shoji Ichikawa, Rita 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 a 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...
December 22, 2016: Endocrinology
https://www.readbyqxmd.com/read/27929669/fgf23-is-not-required-to-regulate-fetal-phosphorus-metabolism-but-exerts-effects-within-12-hours-after-birth
#5
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 co-receptor 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...
December 8, 2016: Endocrinology
https://www.readbyqxmd.com/read/27901202/in-vivo-performance-of-different-scaffolds-for-dental-pulp-stem-cells-induced-for-odontogenic-differentiation
#6
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
#7
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...
November 21, 2016: Bone
https://www.readbyqxmd.com/read/27824602/exercise-pulmonary-haemodynamics-predict-outcome-in-patients-with-systemic-sclerosis
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/27486068/ultrashort-cationic-lipopeptides-and-lipopeptoids-evaluation-and-mechanistic-insights-against-epithelial-cancer-cells
#11
Ronald Domalaon, Brandon Findlay, Makanjuola Ogunsina, Gilbert Arthur, Frank Schweizer
Peptides present an attractive scaffold for the development of new anticancer lead agents due to their accessibility and ease of modification. Synthetic ultrashort cationic lipopeptides, with four amino acids or less conjugated to a fatty acid, were developed to retain the biological activity of longer peptides in a smaller molecular size. Herein, we report the activity of amphiphilic lipotripeptides, lipotripeptoids and lipotetrapeptides against breast (MDA-MB-231, JIMT-1), prostate (DU145) and pancreas (MiaPaCa2) epithelial cancer cell lines...
October 2016: Peptides
https://www.readbyqxmd.com/read/27340574/hypophosphatemic-rickets-in-siblings-a-rare-case-report
#12
Gummadapu Sarat, Nuthalapati Priyanka, Meka Purna Venkata Prabhat, Chintamaneni Raja Lakshmi, Sujana Mulk Bhavana, Dharmavaram Ayesha Thabusum
Hypophosphatemic rickets (HR) is a type of hereditary rickets characterized by persistent hypophosphatemia and hyperphosphaturia. The most predominant type is inherited in an X-linked fashion and caused by mutation in the gene encoding the phosphate-regulating endopeptidase homolog, X-linked (PHEX), identified in 1995. The X-linked hypophosphatemic (XLH) rickets is a rare hereditary metabolic disorder with a prevalence of 1 in 20,000 and causes deficient calcification of mineralized structures such as bones and teeth resulting in dental problems in terms of delayed eruption, spontaneous periapical infections, and exfoliation...
2016: Case Reports in Dentistry
https://www.readbyqxmd.com/read/27270332/expression-and-inactivation-of-osteopontin-degrading-phex-enzyme-in-squamous-cell-carcinoma
#13
Raquel L Neves, Gabrielly M D Chiarantin, Fábio D Nascimento, João B Pesquero, Helena B Nader, Ivarne L S Tersariol, Marc D McKee, Adriana K Carmona, Nilana M T Barros
Proteolytic enzymes mediate the activation or inactivation of many physiologic and pathologic processes. The PHEX gene (Phosphate-regulating gene with homologies to endopeptidase on the X chromosome) encodes a metallopeptidase, which is mutated in patients with a prevalent form (1:20,000) of inherited rickets-X-linked hypophosphatemia (XLH). XLH shows growth retardation, hypophosphatemia, osteomalacia, and defective renal phosphate reabsorption and metabolism of vitamin D. Most PHEX studies have focused on bone, and recently we identified osteopontin (OPN) as the first protein substrate for PHEX, demonstrating in the murine model of XLH (Hyp mice) an increase in OPN that contributes to the osteomalacia...
August 2016: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/27221261/-x-linked-hypophosphatemic-rickets-due-to-mutations-in-phex-clinical-and-evolutionary-variability
#14
Gabriel Á Martos Moreno, Cristina Aparicio, Carmen de Lucas, Helena Gil Peña, Jesús Argente
No abstract text is available yet for this article.
July 2016: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/27126636/crispr-cas9-mediated-mutation-of-phex-in-rabbit-recapitulates-human-x-linked-hypophosphatemia-xlh
#15
Tingting Sui, Lin Yuan, Huan Liu, Mao Chen, Jichao Deng, Yong Wang, Zhanjun Li, Liangxue Lai
X-linked hypophosphatemia (XLH) is the most common cause of inheritable rickets, with an incidence of 1/20 000 in humans. Inactivation or mutation of the gene PHEX, a phosphate-regulating endopeptidase, leads to hypophosphatemia and defective bone mineralization in XLH patients. Presently, there is no adequate animal model for safety assessments of physiotherapies and drug screening for XLH rickets. In this study, an XLH model was generated via PHEX gene knockout (KO) through coinjection of clustered regularly interspaced short palindromic repeats (CRISPR)-associated protein 9 (Cas9)/sgRNA mRNA into rabbit zygotes...
April 28, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27035636/excessive-osteocytic-fgf23-secretion-contributes-to-pyrophosphate-accumulation-and-mineralization-defect-in-hyp-mice
#16
Sathish K Murali, Olena Andrukhova, Erica L Clinkenbeard, Kenneth E White, Reinhold G Erben
X-linked hypophosphatemia (XLH) is the most frequent form of inherited rickets in humans caused by mutations in the phosphate-regulating gene with homologies to endopeptidases on the X-chromosome (PHEX). Hyp mice, a murine homologue of XLH, are characterized by hypophosphatemia, inappropriately low serum vitamin D levels, increased serum fibroblast growth factor-23 (Fgf23), and osteomalacia. Although Fgf23 is known to be responsible for hypophosphatemia and reduced vitamin D hormone levels in Hyp mice, its putative role as an auto-/paracrine osteomalacia-causing factor has not been explored...
April 2016: PLoS Biology
https://www.readbyqxmd.com/read/27020293/influence-of-extracellular-ph-on-growth-viability-cell-size-acidification-activity-and-intracellular-ph-of-lactococcus-lactis-in-batch-fermentations
#17
Gunda Hansen, Claus Lindvald Johansen, Gunvor Marten, Jacqueline Wilmes, Lene Jespersen, Nils Arneborg
In this study, we investigated the influence of three extracellular pH (pHex) values (i.e., 5.5, 6.5, and 7.5) on the growth, viability, cell size, acidification activity in milk, and intracellular pH (pHi) of Lactococcus lactis subsp. lactis DGCC1212 during pH-controlled batch fermentations. A universal parameter (e.g., linked to pHi) for the description or prediction of viability, specific acidification activity, or growth behavior at a given pHex was not identified. We found viability as determined by flow cytometry to remain high during all growth phases and irrespectively of the pH set point...
July 2016: Applied Microbiology and Biotechnology
https://www.readbyqxmd.com/read/26940255/inhibitory-effect-of-phalaenopsis-orchid-extract-on-wnt1-induced-immature-melanocyte-precursor-differentiation-in-a-novel-in-vitro-solar-lentigo-model
#18
Takaaki Yamada, Seiji Hasegawa, Yu Inoue, Mayumi Kunita, Kazuhisa Ohsumi, Tsutomu Sakaida, Youichi Yashiro, Satoru Nakata
Recently, it has been reported that increased expression of WNT1 accelerates the differentiation of melanocyte stem cells (McSCs) in solar lentigines (SLs), hyperpigmented maculae commonly seen on sun-exposed areas of the skin. In this study, to establish an in vitro SL model, human epidermal squamous carcinoma cell line HSC-1, which expresses higher levels of WNT1 than normal human epidermal keratinocytes, was co-cultured with early passage normal human epidermal melanocytes (NHEMs) as an in vitro McSC model...
July 2016: Bioscience, Biotechnology, and Biochemistry
https://www.readbyqxmd.com/read/26904698/genetic-testing-confirmed-the-early-diagnosis-of-x-linked-hypophosphatemic-rickets-in-a-7-month-old-infant
#19
Kok Siong Poon, Andrew Anjian Sng, Cindy Weili Ho, Evelyn Siew-Chuan Koay, Kah Yin Loke
Loss-of-function mutations in the phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) have been causally associated with X-linked hypophosphatemic rickets (XLHR). The early diagnosis of XLHR in infants is challenging when it is based solely on clinical features and biochemical findings. We report a 7-month-old boy with a family history of hypophosphatemic rickets., who demonstrated early clinical evidence of rickets, although serial biochemical findings could not definitively confirm rickets...
July 2015: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/26894575/de-novo-mutation-of-phex-in-a-type-1-diabetes-patient
#20
Chen Fang, Hui Li, Xiaozhen Li, Wenjin Xiao, Yun Huang, Wu Cai, Yi Yang, Ji Hu
A new missense mutation on the X chromosome (PHEX) at exon 4(c.442C>T) in a 4-generation Chinese Han pedigree is reported. The proband and four family members were clinically identified as the X-linked hypophosphatemic rickets (XLH) which is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. The proband is identified as hemizygous with the four female family members to be heterozygous genotypes. The discovery was made through the complete sequencing of the exons and the intron-exon boundaries of the PHEX gene of this family...
May 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
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