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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
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
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...
September 28, 2016: American Journal of Otolaryngology
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
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
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...
October 5, 2016: Endocrine
Eunju Choi, Sara E Childs-Sanford, Noha Abou-Madi, Erin E King, Brian G Caserto, Heather Priest, Erica Behling-Kelly, Andrew D Miller
An 8-yr-old, captive, female golden lion tamarin ( Leontopithecus rosalia ) with a 6-yr history of hyperbilirubinemia was examined for inappetence and weight loss. Physical examination and blood pressure monitoring under anesthesia revealed hypothermia and hypotension, and blood work revealed hypoglycemia, markedly elevated liver enzymes, including serum alkaline phosphatase, aspartate aminotransferase, and alanine aminotransferase, and confirmed the hyperbilirubinemia. A complete blood count suggested chronic lymphoid leukemia...
September 2016: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
Zhe Wei, Jin-Wei He, Wen-Zhen Fu, Zhen-Lin Zhang
CONTEXT: Adefovir dipivoxil (ADV) was an important cause of adult-onset hypophosphatemic osteomalacia. However, its clinical characteristics and mechanisms have not been well defined. OBJECTIVE: The objective of the study was to summarize the clinical characteristics of ADV-induced osteomalacia and to explore the association between ADV-associated tubulopathy and polymorphisms in genes encoding drug transporters. DESIGN, SETTING, PATIENTS, AND MAIN OUTCOME MEASURE: Seventy-six affected patients were clinically studied...
September 21, 2016: Bone
Sunil J Wimalawansa
The aim of this study is to determine and critically evaluate the plausible relationships of vitamin D with extra-skeletal tissues in humans. Severe vitamin D deficiency results in rickets in children and osteomalacia in adults; these beneficial effects in the musculoskeletal system and certain physiological functions are well understood. Nevertheless, mounting reports support additional beneficial effects of vitamin D, outside the musculoskeletal system. This review explores the recent advances in knowledge about the non-skeletal effects of vitamin D...
September 20, 2016: Journal of Steroid Biochemistry and Molecular Biology
T Chazal, V Khanine, O Lidove, S Godot, J-M Ziza
INTRODUCTION: Osteomalacia is associated with diffuse pain and multiple fractures and therefore, diagnosis and treatment of this condition are necessary. Clinicians should be aware of an uncommon mechanism of osteomalacia where hypophosphataemia is secondary to renal phosphaturia because of the production by a mesenchymal phosphaturic tumor of FGF-23. This tumor should be localized and removed to cure this tumor-induced osteomalacia. OBSERVATION: A 70-year-old female patient was admitted to explore diffuse pain caused by multiple fractures secondary to osteomalacia...
September 19, 2016: La Revue de Médecine Interne
Sandip Basu, Preeti Fargose
The potential of peptide receptor radionuclide therapy (PRRT) is described in recurrent inoperable phosphaturic mesenchymal tumor involving left basi-occiput causing tumor-induced osteomalacia (TIO), for which the patient had undergone two times surgery previously. Following one cycle of PRRT, there was good symptomatic improvement, modest reduction of uptake on both (68)Ga-DOTATATE PET/CT and FDG-PET/CT suggesting favourable response and hence was considered for second cycle. Being somatostatin receptor avid, this rare group of tumors when inoperable or recurrent may be potentially targeted with PRRT...
September 15, 2016: Journal of Nuclear Medicine Technology
Thomas J Weber, Eileen K Sawyer, Scott Moseley, Tatjana Odrljin, Priya S Kishnani
BACKGROUND: Hypophosphatasia (HPP) is a rare metabolic bone disease caused by loss-of-function mutation(s) in the tissue-nonspecific alkaline (TNSALP) phosphatase gene, which manifests as rickets and/or osteomalacia with systemic complications and affects patients of all ages. The burden of disease is poorly characterized in adult patients. AIMS: We assessed patient-reported burden of disease using two surveys reasonably specific for HPP symptomatology, the Hypophosphatasia Impact Patient Survey (HIPS) and the Hypophosphatasia Outcomes Study Telephone interview (HOST)...
October 2016: Metabolism: Clinical and Experimental
F Sivas, F G Yurdakul, M Durak, G Hatipoğlu, E D Önal, H Bodur
In this case, a young male patient diagnosed as hypophosphatemic osteomalacia and ankylosing spondylitis (AS) will be assessed by literature. A 32-year-old male patient who had been previously diagnosed as ankylosing spondylitis and hypophosphatemic osteomalacia was admitted to our clinic. In the beginning of the disease, he complained of pain on the first metatarsal bone and low back. Sacroiliac magnetic resonance (MR) images were interpreted as sacroiliitis. He was diagnosed as AS, and referred to many hospitals and received several therapies...
September 12, 2016: Osteoporosis International
Michael P Whyte, Deborah Wenkert, Fan Zhang
Hypophosphatasia (HPP) is the inborn-error-of-metabolism that features deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Resultant extracellular accumulation of inorganic pyrophosphate, a TNSALP substrate and potent inhibitor of mineralization, typically leads to tooth loss and sometimes to rickets or osteomalacia. HPP's remarkably broad-ranging severity is largely explained by autosomal dominant versus autosomal recessive transmission from among several hundred usually missense mutations positioned throughout the gene that encodes TNSALP...
August 27, 2016: Bone
Riad A Sulimani, Ashry G Mohammed, Assim A Alfadda, Suliman N Alshehri, Abdulaziz M Al-Othman, Nasser M Al-Daghri, David A Hanley, Aliya A Khan
OBJECTIVES: To determine seasonal variations in the vitamin D status of Saudi adolescent girls in Riyadh, Kingdom of Saudi Arabia (KSA) and its effect in biochemical and clinical characteristics.  METHODS: In this prospective study, a total of 2000 Saudi females aged 12-18 years from different schools in Riyadh, KSA participated and submitted a generalized questionnaire with clinical information. Fasting blood samples were obtained in 1618 subjects for the winter season (December to February) and only 499 subjects returned to submit fasting blood samples for the summer season (June-August)...
September 2016: Saudi Medical Journal
Leon Prozesky, Johan Neser, Heinz Meissner, Kenneth Botha, Lubbe Jacobs, Craig Shepstone, Hannes Viljoen, Hinner Köster, Chris De Brouwer, Jan Van Zyl, Gerjan Van der Veen
The north-western part of South Africa, in particular, is well known for mineral imbalances. Aphosphorosis, resulting in rickets and osteomalacia, received a lot of attention at the turn of the nineteenth century (1882-1912). This was followed in 1997 by research on Vryburg hepatosis, another area-specific mineral imbalance-related disease in young calves reared on manganese-rich soil derived from the weathering of dolomitic (carbonate) rock formations. In 1982, a totally new syndrome (osteochondrosis) manifested in, amongst others, areas in South Africa where aphosphorosis was rife...
2016: Onderstepoort Journal of Veterinary Research
Diala El-Maouche, Samira M Sadowski, Georgios Z Papadakis, Lori Guthrie, Candice Cottle-Delisle, Roxanne Merkel, Corina Millo, Clara C Chen, Electron Kebebew, Michael T Collins
CONTEXT: Phosphaturic mesenchymal tumors (PMTs) are small, typically difficult to localize, and express somatostatin receptors. Recent work suggests imaging studies using (68)Gallium ((68)Ga)-conjugated somatostatin peptide analogues, such as 1,4,7,10-tetraazacyclododecane-1,4,7,10-tetraacetic acid (DOTA)TATE, which enables somatostatin receptor imaging with positron emission tomography (PET), may be useful at identifying these tumors. OBJECTIVE: Our objective was to evaluate the use of (68)Ga-DOTATATE PET/computed tomography (CT) for tumor localization in tumor-induced osteomalacia (TIO)...
October 2016: Journal of Clinical Endocrinology and Metabolism
D Ovejero, Y H Lim, A M Boyce, R I Gafni, E McCarthy, T A Nguyen, L F Eichenfield, C M C DeKlotz, L C Guthrie, L L Tosi, P S Thornton, K A Choate, M T Collins
: Cutaneous skeletal hypophosphatemia syndrome (CSHS), caused by somatic RAS mutations, features excess fibroblast growth factor-23 (FGF23) and skeletal dysplasia. Records from 56 individuals were reviewed and demonstrated fractures, scoliosis, and non-congenital hypophosphatemia that in some cases were resolved. Phosphate and calcitriol, but not skin lesion removal, were effective at controlling hypophosphatemia. No skeletal malignancies were found. PURPOSE: CSHS is a disorder defined by the association of epidermal and/or melanocytic nevi, a mosaic skeletal dysplasia, and an FGF23-mediated hypophosphatemia...
August 6, 2016: Osteoporosis International
Tuğba Şişmanlar, Ayşe Tana Aslan, Özlem Gülbahar, Seçil Özkan
AIM: Lower respiratory tract infections including mainly pneumonia represent an important public health problem leading to high mortality and mobidity rates in children aged below five years in developing countries including our country. Vitamin D deficiency has been associated with increased risk of rickets/osteomalacia, various cancers, autoimmune diseases, hyperproliferative skin diseases, cardiovascular system diseases and infectious diseases. Vitamin D has an important role in cellular and humoral immunity and pulmonary functions...
June 2016: Türk Pediatri Arşivi
Dan Faibish, Andrea Gomes, Georges Boivin, Itzhak Binderman, Adele Boskey
No abstract text is available yet for this article.
July 26, 2016: Bone
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