keyword
MENU ▼
Read by QxMD icon Read
search

osteomalacia

keyword
https://www.readbyqxmd.com/read/27929669/fgf23-is-not-required-to-regulate-fetal-phosphorus-metabolism-but-exerts-effects-within-12-hours-after-birth
#1
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/27921126/successful-ct-guided-cryoablation-of-phosphaturic-mesenchymal-tumor-in-the-soft-tissues-causing-tumor-induced-osteomalacia-a-case-report
#2
Sophie Cowan, Santiago A Lozano-Calderon, Raul N Uppot, Dipti Sajed, Ambrose J Huang
We report the case of a 25-year-old male patient with tumor-induced osteomalacia from a 1.8-cm phosphaturic mesenchymal tumor in the right distal thigh, who was treated at our institution with a single session of CT-guided cryoablation in December 2015, which resulted in biochemical and clinical resolution. We present the clinical history, physical examination, biochemistry, functional imaging, anatomic characterization, and follow-up for clinical outcome. The response to treatment was documented in terms of normalization of serum fibroblastic growth factor 23 (FGF23) and phosphorous levels, symptomatic improvement, as well as normalization of bone mineralization on femur radiographs 3 months after the procedure...
December 5, 2016: Skeletal Radiology
https://www.readbyqxmd.com/read/27900654/-slow-and-steady-wins-the-race-the-importance-of-perseverance-in-the-management-of-oncogenic-osteomalacia
#3
EDITORIAL
Maria Manara, Luigi Sinigaglia
No abstract text is available yet for this article.
November 29, 2016: Endocrine
https://www.readbyqxmd.com/read/27885708/oldest-medical-description-of-osteogenesis-imperfecta-17th-century-france
#4
Philippe Charlier, Antonio Perciaccante, Raffaella Bianucci
Osteogenesis imperfecta (OI), also known as Lobstein's syndrome or Vrolik's syndrome, comprises a heterogeneous group of rare genetic connective tissue disorders. It is characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures of variable severity. Originally named "osteomalacia congenita," the condition was first medically described in a family by Ekman in 1778. Here, we report a 17th century medical account from France, which predates Eckman's doctoral dissertation by about a century...
November 7, 2016: Clinical Anatomy
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
#5
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/27867811/dramatic-mitigation-of-bone-pain-after-phosphorus-replacement-therapy-in-a-subject-with-fgf23-related-hypophosphatemic-osteomalacia
#6
Fuminori Tatsumi, Megumi Horiya, Akihito Tanabe, Momoyo Nishioka, Yoshiro Fushimi, Junpei Sanada, Yurie Hirata, Shintaro Irie, Tomoe Kinoshita, Shinji Kamei, Masashi Shimoda, Tomoatsu Mune, Kohei Kaku, Hideaki Kaneto
INTRODUCTION: Fibroblast growth factor 23 (FGF23) is secreted from bone and suppresses the absorption of phosphorus in renal proximal tubule and in intestinal tract. Therefore, the increase of serum FGF23 levels leads to hypophosphatemic situations. Tumor-induced osteomalacia is often induced by various tumors, but it is often difficult to identify the localization of tumor, because most of the FGF23-producing tumors are small and could be observed in any part of the body. CASE DESCRIPTION: Here we report a case of elderly female subject with FGF23-related hypophosphatemic osteomalacia who repeatedly experienced severe bone pain and fragility fracture in various parts of the body...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27862258/raine-syndrome-omim-259775-caused-by-fam20c-mutation-is-congenital-sclerosing-osteomalacia-with-cerebral-calcification-omim-259660
#7
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
#8
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/27825568/osteoarticular-manifestations-of-celiac-disease-and-non-celiac-gluten-hypersensitivity
#9
Stéphanie Dos Santos, Frédéric Lioté
Celiac disease is a chronic inflammatory autoimmune enteropathy based disorder that is triggered by the ingestion of gluten in genetically susceptible individuals. The global prevalence of 1% to 2% represents only the tip of the iceberg. The diagnosis is confirmed by positive specific antibody, anti-transglutaminase or anti-endomysium, specific lesions of the small intestine and a response to strict gluten-free diet. The diagnosis is difficult and often delayed because the clinical variability is very large, ranging from digestive clinical presentation "classic" to "atypical" symptoms, often extra-intestinal, that are sometimes attributed to a concomitant disease or a complication...
November 4, 2016: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/27825289/vitamin-d-deficiency-in-traumatic-brain-injury-and-its-relationship-with-severity-of-injury-and-quality-of-life-a-prospective-observational-study
#10
Emma Toman, Jonathon R B Bishop, David James Davies, Z Su, Sherwin Criseno, Andrea Mason, Andrew Toogood, Antonio Belli
This single-centre prospective observational study aims to describe the prevalence of vitamin D deficiency (VDD) in the traumatic brain injury (TBI) population and identify any relationship between vitamin D and severity of head injury or quality of life. 124 TBI patients had serum vitamin D (25-OHD) levels measured at the local post-TBI endocrine screening clinic over 20 months. Quality of Life after Brain Injury (QOLIBRI) questionnaires were completed by the patient concurrently. A multivariate regressional analysis was performed, controlling for age, season, ethnicity, time since injury, TBI severity and gender...
November 8, 2016: Journal of Neurotrauma
https://www.readbyqxmd.com/read/27820122/tumor-induced-osteomalacia-in-a-3-year-old-with-unresectable-central-giant-cell-lesions
#11
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
#12
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/27785646/a-feasibility-study-of-educational-tools-for-osteomalacia
#13
R Waxman, A Adebajo, S Robinson, D Walker, M Johnson, A Rahman, A Samanta, K Kumar, K Raza, P Helliwell
Many people in the UK, particularly people of South Asian origin, are advised to supplement their vitamin D intake, yet most do not. This suggests an unmet educational need. The osteomalacia mind map was developed to meet this need. The mind map contains culturally sensitive images, translated into Urdu and made interactive on a DVD. This study explores the feasibility of a randomised controlled study to measure the effect of education on improving vitamin D knowledge and adherence. This was a pilot and feasibility study...
October 26, 2016: Clinical Rheumatology
https://www.readbyqxmd.com/read/27771603/atraumatic-diplaced-bilateral-femoral-neck-fracture-in-a-patient-with-hypophosphatemic-rickets-in-postpartum-period-a-missed-diagnosis
#14
Erdal Uzun, Ali Eray Günay, Turan Bilge Kızkapan, Mahmut Mutlu
INTRODUCTION: Simultaneous bilateral femoral neck fracture is an uncommon condition. There are very few cases reported in the literature and most of these cases have underlying bone pathologies such as renal osteodystrophy and osteomalacia. In some cases bilateral femoral neck fractures occur due to generalized seizures or high-energy trauma. PRESENTATION OF CASE: In this case report "atraumatic bilateral femoral neck fracture in a 26year old woman in postpartum period with hypophosphatemic rickets disease" is presented...
October 17, 2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27754732/patients-with-fgf23-related-hypophosphatemic-rickets-osteomalacia-do-not-present-with-left-ventricular-hypertrophy
#15
Yuichi Takashi, Yuka Kinoshita, Michiko Hori, Nobuaki Ito, Manabu Taguchi, Seiji Fukumoto
PURPOSE: Fibroblast growth factor 23 (FGF23) is a hormone regulating phosphate metabolism. Excessive actions of FGF23 cause several types of FGF23-related hypophosphatemic rickets/osteomalacia. Recently, it was reported that FGF23 levels were independently correlated with left ventricular hypertrophy (LVH) in patients with chronic kidney disease (CKD). In addition, FGF23 was also shown to cause cardiac hypertrophy directly acting on cardiomyocytes. However, there is no study indicating the correlation between FGF23 and LVH in adult patients with FGF23-related hypophosphatemic rickets/osteomalacia...
October 18, 2016: Endocrine Research
https://www.readbyqxmd.com/read/27746441/bone-histology-of-two-cases-with-osteomalacia-related-to-low-dose-adefovir
#16
Rikako Hiramatsu, Yoshifumi Ubara, Naoki Sawa, Eiko Hasegawa, Masahiro Kawada, Aya Imafuku, Keiichi Sumida, Junichi Hoshino, Kenmei Takaichi
We performed a bone histomorphometric analysis in two patients demonstrating Fanconi syndrome with hypophosphatemia, adefovir-related bone disease and chronic hepatitis B infection. Both patients had osteomalacia, but showed two different histological patterns. The osteoid volume of the patient without risedronate increased with [(osteoid volume/ bone volume)×100=18.6%]. However, the osteoid volume of the patient receiving risedronate without vitamin D analogue showed a greater increase of 53.8%. In both patients bone pain and hypophosphatemia subsided soon after the discontinuation of adefovir and the administration of phosphate derivative...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27733274/treatment-of-ear-and-bone-disease-in-the-phex-mouse-mutant-with-dietary-supplementation
#17
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/27726750/imaging-findings-of-metabolic-bone-disease
#18
Connie Y Chang, Daniel I Rosenthal, Deborah M Mitchell, Atsuhiko Handa, Susan V Kattapuram, Ambrose J Huang
Metabolic bone diseases are a diverse group of diseases that result in abnormalities of (a) bone mass, (b) structure mineral homeostasis, (c) bone turnover, or (d) growth. Osteoporosis, the most common metabolic bone disease, results in generalized loss of bone mass and deterioration in the bone microarchitecture. Impaired chondrocyte development and failure to mineralize growth plate cartilage in rickets lead to widened growth plates and frayed metaphyses at sites of greatest growth. Osteomalacia is the result of impaired mineralization of newly formed osteoid, which leads to characteristic Looser zones...
October 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27710917/primary-hyperparathyroidism-may-masquerade-as-rickets-osteomalacia-in-vitamin-d-replete-children
#19
Mohd Ashraf Ganie, Nishant Raizada, Himika Chawla, Arun Kumar Singh, Sandeep Aggarwala, Chandra Sekhar Bal
Primary hyperparathyroidism, typically a disease of the middle aged and the old, is less commonly seen in children. In children the disease has a bimodal age distribution with calcium sensing receptor mutation presenting in infancy as hypercalcemic crises and parathyroid adenoma or hyperplasia presenting later in childhood with bone disease. The childhood parathyroid adenomas are often familial with multiglandular disease and manifest with severe bone disease unlike adults. We report a series of four male patients with juvenile primary hyperparathyroidism, three of whom presented with bone disease masquerading as rickets-osteomalacia...
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27709474/identifying-the-culprit-lesion-in-tumor-induced-hypophosphatemia-the-solution-of-a-clinical-enigma
#20
Mathilde M Bruins Slot-Steenks, Neveen A T Hamdy, Michiel A J van de Sande, Dennis Vriens, Arjen H G Cleven, Natasha M Appelman-Dijkstra
Tumor-induced osteomalacia is a rare acquired metabolic bone disorder characterized by isolated renal phosphate wasting due to abnormal tumor production of fibroblast growth factor 23. We report the case of a 59 year old woman referred to our department with a long history of progressive diffuse muscle weakness and pain, generalized bone pains and multiple insufficiency fractures of heels, ankles and hips due to a hypophosphatemic osteomalacia. A fibroblast growth factor 23-producing phosphaturic mesenchymal tumor localized in the left quadriceps femoris muscle was identified 7 years after onset of symptoms...
December 2016: Endocrine
keyword
keyword
31516
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"