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https://www.readbyqxmd.com/read/27933711/using-a-co-production-prioritization-exercise-involving-south-asian-children-young-people-and-their-families-to-identify-health-priorities-requiring-further-research-and-public-awareness
#1
Logan Manikam, Rakhee Shah, Kate Reed, Gupreet Santini, Monica Lakhanpaul
OBJECTIVES: To facilitate South Asian (SA) families and health-care professionals (HCPs) participation in a prioritization exercise to co-produce child health research and public awareness agendas. DESIGN: A three-stage process was adopted involving the following: (i) systematic literature review, (ii) HCP scoping survey and (iii) focus groups of SA adolescents and families. A Punjabi- and Urdu-speaking community facilitator moderated focus groups. A British Sign Language interpreter assisted in the hard of hearing group...
December 8, 2016: Health Expectations: An International Journal of Public Participation in Health Care and Health Policy
https://www.readbyqxmd.com/read/27929669/fgf23-is-not-required-to-regulate-fetal-phosphorus-metabolism-but-exerts-effects-within-12-hours-after-birth
#2
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/27922335/nutritional-rickets-around-the-world-an-update
#3
Ana L Creo, Tom D Thacher, John M Pettifor, Mark A Strand, Philip R Fischer
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, including prevalence, cause of rickets specific to the region, methods of confirming the diagnosis and current treatment and preventive measures...
December 6, 2016: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/27922245/a-novel-mutation-in-a-case-of-pseudohypoparathyroidism-type-ia
#4
Birgül Kırel, Meliha Demiral, Özkan Bozdağ, Kadri Karaer
Pseudohypoparathyroidism (PHP) type Ia is characterized by multiple hormone resistance; primarily parathyroid hormone (PTH) resistance and Albright's hereditary osteodystrophy (AHO) which involves skeletal and developmental defects. The AHO phenotype alone without hormone resistance is defined as pseudoPHP. A boy was first diagnosed as having both rickets and primary hypothyroidism at 2.5 months of age. His calcium level remained within normal levels after vitamin D treatment, but, elevated PTH and ALP levels and normal-high phosphate levels persisted during his follow-up by age of 2...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27915106/insights-gained-from-ancient-biomolecules-into-past-and-present-tuberculosis-a-personal-perspective
#5
REVIEW
Helen D Donoghue
Ancient and historical tuberculosis (TB) can be recognized by its typical paleopathology in human remains. Using paleomicrobiology, it is possible to detect many more individuals infected with TB but with no visible lesions. Due to advances in molecular analysis over the past two decades, it is clear that TB was widespread in humans from the Neolithic period until the present day. Past human populations were associated with different lineages of the Mycobacterium tuberculosis (MTB) complex, thereby elucidating early human migrations...
November 30, 2016: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/27907116/rnai-mediated-functional-analysis-of-bursicon-genes-related-to-adult-cuticle-formation-and-tanning-in-the-honeybee-apis-mellifera
#6
Claudinéia Pereira Costa, Moysés Elias-Neto, Tiago Falcon, Rodrigo Pires Dallacqua, Juliana Ramos Martins, Marcia Maria Gentile Bitondi
Bursicon is a heterodimeric neurohormone that acts through a G protein-coupled receptor named rickets (rk), thus inducing an increase in cAMP and the activation of tyrosine hydroxylase, the rate-limiting enzyme in the cuticular tanning pathway. In insects, the role of bursicon in the post-ecdysial tanning of the adult cuticle and wing expansion is well characterized. Here we investigated the roles of the genes encoding the bursicon subunits during the adult cuticle development in the honeybee, Apis mellifera...
2016: PloS One
https://www.readbyqxmd.com/read/27900779/mosaic-nras-q61r-mutation-in-a-child-with-giant-congenital-melanocytic-naevus-epidermal-naevus-syndrome-and-hypophosphataemic-rickets
#7
R Ramesh, N Shaw, E K Miles, B Richard, I Colmenero, C Moss
The association of hypophosphataemic rickets with verrucous epidermal naevus (EN) and elevated fibroblast growth factor 23 levels is known as cutaneous-skeletal hypophosphataemia syndrome (CSHS), and can be caused by somatic activating mutations in RAS genes. We report a unique patient with CSHS associated with giant congenital melanocytic naevus (CMN), neurocutaneous melanosis and EN syndrome, manifesting as facial linear sebaceous naevus, developmental delay and ocular dermoids. An activating mutation Q61R in the NRAS gene was found in affected skin and ocular tissue but not blood, implying that the disparate manifestations are due to a multilineage activating mutation (mosaic RASopathy)...
November 30, 2016: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/27892584/a-short-history-of-phototherapy-vitamin-d-and-skin-disease
#8
Paul Jarrett, Robert Scragg
The earliest record between sun exposure and skin disease goes back five millennia to the ancient Egyptians. The modern scientific era of medical light therapy and skin diseases started in 1877 when Downs and Blunt reported that exposure to light inhibited fungal growth in test tubes. Continuing research generated a growing medical interest in the potential the effects of light to treat and cure skin diseases considered as parasitic. This culminated in the awarding of the 1903 Nobel Prize in Medicine to Niels Finsen for his pioneering work showing that light could successfully treat cutaneous mycobacterium tuberculosis (lupus vulgaris), a disfiguring disorder common at the time...
November 28, 2016: Photochemical & Photobiological Sciences
https://www.readbyqxmd.com/read/27889724/phenotype-of-dent-disease-in-a-cohort-of-indian-children
#9
Swati Bhardwaj, Ranjeet Thergaonkar, Aditi Sinha, Pankaj Hari, Cheong Hi, Arvind Bagga
OBJECTIVE: To describe the clinical and genotypic features of Dent disease in children diagnosed at our center over a period of 10 years. DESIGN: Case series. SETTING: Pediatric Nephrology Clinic at a referral center in Northern India. METHODS: The medical records of patients with Dent disease diagnosed and followed up at this hospital from June 2005 to April 2015 were reviewed. The diagnosis of Dent disease was based on presence of all three of the following: (i) low molecular weight proteinuria, (ii) hypercalciuria and (iii) one of the following: nephrolithiasis, hematuria, hypophosphatemia or renal insufficiency, with or without mutation in CLCN5 or OCRL1 genes...
November 15, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27882481/assessment-criteria-for-vitamin-d-deficiency-insufficiency-in-japan-proposal-by-an-expert-panel-supported-by-the-research-program-of-intractable-diseases-ministry-of-health-labour-and-welfare-japan-the-japanese-society-for-bone-and-mineral-research-and-the
#10
Ryo Okazaki, Keiichi Ozono, Seiji Fukumoto, Daisuke Inoue, Mika Yamauchi, Masanori Minagawa, Toshimi Michigami, Yasuhiro Takeuchi, Toshio Matsumoto, Toshitsugu Sugimoto
Vitamin D is indispensable for the maintenance of bone and mineral health. Inadequate vitamin D action increases the risk for various musculoskeletal/mineral events including fracture, fall, secondary hyperparathyroidism, diminished response to antiresorptives, rickets/osteomalacia, and hypocalcemia. Its most common cause in recent years is vitamin D deficiency/insufficiency, clinically defined by a low serum 25-hydroxyvitamin D [25(OH)D] level. Guidelines for vitamin D insufficiency/deficiency defined by serum 25(OH)D concentrations have been published all over the world...
November 23, 2016: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/27879395/a-computationally-identified-compound-antagonizes-excess-fgf-23-signaling-in-renal-tubules-and-a-mouse-model-of-hypophosphatemia
#11
Zhousheng Xiao, Demian Riccardi, Hector A Velazquez, Ai L Chin, Charles R Yates, Jesse D Carrick, Jeremy C Smith, Jerome Baudry, L Darryl Quarles
Fibroblast growth factor-23 (FGF-23) interacts with a binary receptor complex composed of α-Klotho (α-KL) and FGF receptors (FGFRs) to regulate phosphate and vitamin D metabolism in the kidney. Excess FGF-23 production, which causes hypophosphatemia, is genetically inherited or occurs with chronic kidney disease. Among other symptoms, hypophosphatemia causes vitamin D deficiency and the bone-softening disorder rickets. Current therapeutics that target the receptor complex have limited utility clinically. Using a computationally driven, structure-based, ensemble docking and virtual high-throughput screening approach, we identified four novel compounds predicted to selectively inhibit FGF-23-induced activation of the FGFR/α-KL complex...
November 22, 2016: Science Signaling
https://www.readbyqxmd.com/read/27864003/novel-screening-system-for-high-affinity-ligand-of-heredity-vitamin-d-resistant-rickets-associated-vitamin-d-receptor-mutant-r274l-using-bioluminescent-sensor
#12
Hiroki Mano, Miyu Nishikawa, Kaori Yasuda, Shinichi Ikushiro, Nozomi Saito, Daisuke Sawada, Shinobu Honzawa, Masashi Takano, Atsushi Kittaka, Toshiyuki Sakaki
Hereditary vitamin D-resistant rickets (HVDRR) is caused by mutations in the vitamin D receptor (VDR) gene. Arg274 located in the ligand binding domain (LBD) of VDR is responsible for anchoring 1α,25-dihydroxyvitamin D3 (1α,25(OH)2D3) by forming a hydrogen bond with the 1α-hydroxyl group of 1α,25(OH)2D3. The Arg274Leu (R274L) mutation identified in patients with HVDRR causes a 1000-fold decrease in the affinity for 1α,25(OH)2D3, and dramatically reduces vitamin D- related gene expression. Recently, we successfully constructed fusion proteins consisting of split-luciferase and LBD of the VDR...
November 15, 2016: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/27862258/raine-syndrome-omim-259775-caused-by-fam20c-mutation-is-congenital-sclerosing-osteomalacia-with-cerebral-calcification-omim-259660
#13
Michael P Whyte, William H McAlister, Michael D Fallon, Mary Ella Pierpont, Vinieth N Bijanki, Shenghui Duan, Ghada A Otaify, William S Sly, Steven Mumm
In 1985, we briefly reported infant sisters with a unique, lethal, autosomal recessive disorder designated congenital sclerosing osteomalacia with cerebral calcification. In 1986, this condition was entered into Mendelian Inheritance In Man (MIM) as osteomalacia, sclerosing, with cerebral calcification (MIM 259660). However, no attestations followed. Instead, in 1989 Raine and colleagues published an affected neonate considering unprecedented the striking clinical and radiographic features. In 1992, "Raine syndrome" entered MIM formally as osteosclerotic bone dysplasia, lethal (MIM #259775)...
November 10, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/27854286/-english-disease-historical-notes-on-rickets-the-bone-lung-link-and-child-neglect-issues
#14
REVIEW
Mingyong Zhang, Fan Shen, Anna Petryk, Jingfeng Tang, Xingzhen Chen, Consolato Sergi
Nutritional or classical rickets (here labeled as "rickets") is a worldwide disease involving mostly infants and young children having inadequate sunlight exposure, often associated with a low dietary intake of Vitamin D. Rickets targets all layers of society independently of economic status with historical information spanning more than two millennia. Vitamin D is critical for the absorption of calcium and prevention of rickets in children as well as osteomalacia in adults. The initial and misleading paradigm of the 19th and 20th centuries that rickets may have been the consequence of infection has been, indeed, reversed following the identification of the Vitamin D molecule's important role in the function of the immune system...
November 15, 2016: Nutrients
https://www.readbyqxmd.com/read/27830022/transplantation-of-bone-marrow-derived-mesenchymal-stem-cells-rescues-partially-rachitic-phenotypes-induced-by-1-25-dihydroxyvitamin-d-deficiency-in-mice
#15
Zengli Zhang, Shaomeng Yin, Xian Xue, Ji Ji, Jian Tong, David Goltzman, Dengshun Miao
To determine whether the transplantation of bone marrow-derived mesenchymal stem cells (BM-MSCs) can improve the 1,25(OH)2D deficiency-induced rachitic phenotype, 2×10(6) BM-MSCs from wild-type mice or vehicle were transplanted by tail vein injection into mice deficient in 1,25(OH)2D due to targeted deletion of 1α(OH)ase (1α(OH)ase(-/-)). Our results show that 1α(OH)ase mRNA was expressed in the BM-MSCs derived from wild-type mice, and was detected in long bone, kidney and intestine from BM-MSC-transplanted 1α(OH)ase(-/-) recipients...
2016: American Journal of Translational Research
https://www.readbyqxmd.com/read/27826955/vitamin-d-supplementation-for-preventing-infections-in-children-under-five-years-of-age
#16
REVIEW
Mohammad Y Yakoob, Rehana A Salam, Farhan R Khan, Zulfiqar A Bhutta
BACKGROUND: Vitamin D is a micronutrient important for bone growth and immune function. Deficiency can lead to rickets and has been linked to various infections, including respiratory infections. The evidence on the effects of supplementation on infections in children has not been assessed systematically. OBJECTIVES: To evaluate the role of vitamin D supplementation in preventing pneumonia, tuberculosis (TB), diarrhoea, and malaria in children under five years of age...
November 9, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27820122/tumor-induced-osteomalacia-in-a-3-year-old-with-unresectable-central-giant-cell-lesions
#17
Stephanie S Crossen, Eduardo Zambrano, Beverley Newman, Jonathan A Bernstein, Anna H Messner, Laura K Bachrach, Clare J Twist
Tumor-induced osteomalacia (TIO) is a rare cause of hypophosphatemia involving overproduction of fibroblast growth factor 23. TIO has been described largely in adults with small mesenchymal tumors. We report a case of TIO in a child who presented with knee pain and radiographic findings concerning for rickets, and was found to have maxillomandibular giant cell lesions. The patient was treated with oral phosphorus and calcitriol, surgical debulking, and intralesional corticosteroids, which resulted in tumor regression and normalization of serum fibroblast growth factor 23and phosphorus...
November 4, 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27818369/french-law-what-about-a-reasoned-reimbursement-of-serum-vitamin-d-assays
#18
Jean-Claude Souberbielle, Claude Laurent Benhamou, Bernard Cortet, Mickael Rousière, Christian Roux, Vered Abitbol, Cédric Annweiler, Maurice Audran, Justine Bacchetta, Pierre Bataille, Olivier Beauchet, Rémi Bardet, Alexandra Benachi, Francis Berenbaum, Hubert Blain, Françoise Borson-Chazot, Véronique Breuil, Karine Briot, Philippe Brunet, Jean-Claude Carel, Philippe Caron, Olivier Chabre, Philippe Chanson, Roland Chapurlat, Pierre Cochat, Régis Coutant, Sophie Christin-Maitre, Martine Cohen-Solal, Christian Combe, Catherine Cormier, Marie Courbebaisse, Grégory Debrus, Brigitte Delemer, Georges Deschenes, Marc Duquenne, Guillaume Duval, Patrice Fardellone, Denis Fouque, Gérard Friedlander, Jean-Bernard Gauvain, Lionel Groussin, Pascal Guggenbuhl, Pascal Houillier, Thierry Hannedouche, William Jacot, Rose-Marie Javier, Guillaume Jean, Claude Jeandel, Dominique Joly, Peter Kamenicky, Bertrand Knebelmann, Marie-Hélène Lafage-Proust, Yves LeBouc, Erick Legrand, Florence Levy-Weil, Agnès Linglart, Laurent Machet, Emmanuel Maheu, Eric Mallet, Christian Marcelli, Pierre Marès, Christophe Mariat, Gérard Maruani, Yves Maugars, France Montagnon, Bruno Moulin, Philippe Orcel, Henri Partouche, Virginie Personne, Charles Pierrot-Deseilligny, Michel Polak, Claire Pouteil-Noble, Dominique Prié, Agathe Raynaud-Simon, Yves Rolland, Jean-Louis Sadoul, Bernard Salle, Corinne Sault, Anne-Marie Schott, Isabelle Sermet-Gaudelus, Martin Soubrier, Ivan Tack, Eric Thervet, Isabelle Tostivint, Philippe Touraine, Florence Tremollières, Pablo Urena-Torres, Jean-Paul Viard, Jean-Louis Wemeau, Georges Weryha, Norbert Winer, Jacques Young, Thierry Thomas
The number of serum 25-hydroxyvitamin D (25OHD) assays has increased tenfold in France in less than 10 years, sometimes for invalidated reasons. In 2013, the French National Authority for Health (Haute autorité de santé, or HAS) limited the indications for serum 25OHD measurements to rickets/osteomalacia, older adults with recurrent falls, monitoring of kidney transplant in adults, and surgical treatment of obesity in adults. Our aim here was to note that other indications for serum 25OHD measurements are supported by previous literature and by a number of national and international recommendations, in particular the following: any situation of bone fragility, any chronic renal failure <45 mL/min/1...
November 4, 2016: Gériatrie et Psychologie Neuropsychiatrie du Vieillissement
https://www.readbyqxmd.com/read/27813049/genetic-expression-profile-of-vitamin-d-metabolizing-enzymes-in-the-first-trimester
#19
L Ekström, L Storbjörk, L Björkhem-Bergman
The aim of this study was to map the genetic expression of the vitamin D metabolizing enzymes CYP27A, CYP27B1, CYP2R1, and CYP24A1 in the first trimester in different human fetal tissues. In addition, the gene expression was correlated with fetal age, season, and presence of single nucleotide polymorphisms (SNPs) in the genes encoding CYP27A1 (rs4674344), CYP2R1 (rs2060793), and CYP24A1 (rs6013897). Fetal samples from livers (n=60), kidneys (n=43), lungs (n=37), and intestines (n=14) were analyzed by quantitative PCR...
December 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/27799484/renal-fanconi-syndrome-and-hypophosphatemic-rickets-in-the-absence-of-xenotropic-and-polytropic-retroviral-receptor-in-the-nephron
#20
Camille Ansermet, Matthias B Moor, Gabriel Centeno, Muriel Auberson, Dorothy Zhang Hu, Roland Baron, Svetlana Nikolaeva, Barbara Haenzi, Natalya Katanaeva, Ivan Gautschi, Vladimir Katanaev, Samuel Rotman, Robert Koesters, Laurent Schild, Sylvain Pradervand, Olivier Bonny, Dmitri Firsov
Tight control of extracellular and intracellular inorganic phosphate (Pi) levels is critical to most biochemical and physiologic processes. Urinary Pi is freely filtered at the kidney glomerulus and is reabsorbed in the renal tubule by the action of the apical sodium-dependent phosphate transporters, NaPi-IIa/NaPi-IIc/Pit2. However, the molecular identity of the protein(s) participating in the basolateral Pi efflux remains unknown. Evidence has suggested that xenotropic and polytropic retroviral receptor 1 (XPR1) might be involved in this process...
October 31, 2016: Journal of the American Society of Nephrology: JASN
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