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Qi Zhang, Shuxian Lin, Ying Liu, Baozhi Yuan, Steph E Harris, Jian Q Feng
Patients with hypophosphatemia rickets (including DMP1 mutations) develop severe osteoarthritis (OA), although the mechanism is largely unknown. In this study, we first identified the expression of DMP1 in hypertrophic chondrocytes using immunohistochemistry (IHC) and X-gal analysis of Dmp1-knockout-lacZ-knockin heterozygous mice. Next, we characterized the OA-like phenotype in Dmp1 null mice from 7-week-old to one-year-old using multiple techniques, including X-ray, micro-CT, H&E staining, Goldner staining, scanning electronic microscopy, IHC assays, etc...
2016: International Journal of Biological Sciences
Stephanie Rutledge, Michele Harrison, Martin O'Connell, Tadhg O'Dwyer, Maria M Byrne
BACKGROUND: We report the case of a giant intrathyroidal parathyroid adenoma weighing 59 g in a young woman presenting acutely with severe hypercalcemia requiring correction and adequate preoperative management prior to surgery. Parathyroid adenomas account for 85 % of cases of primary hyperparathyroidism. Those weighing more than 3.5g are classified as giant parathyroid adenomas. There are only 25 cases of parathyroid adenomas weighing over 30g reported in the literature. With the wide availability of biochemical screening tests in Western countries, mildly elevated calcium levels are often discovered incidentally...
October 19, 2016: Journal of Medical Case Reports
A Willems, D Paepe, S Marynissen, P Smets, I Van de Maele, P Picavet, L Duchateau, S Daminet
BACKGROUND: There is a growing interest in health care of elderly dogs; however, scientific information about physical and laboratory examination findings in this age group is limited. OBJECTIVES: To describe systolic blood pressure (SBP), and results of physical examination and laboratory tests in senior and geriatric dogs that were judged by the owner to be healthy. ANIMALS: Hundred client-owned dogs. METHODS: Dogs were prospectively recruited...
October 17, 2016: Journal of Veterinary Internal Medicine
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
Larissa Kruger Gomes, Melani Ribeiro Custódio, Fabiana Loss de Carvalho Contieri, Miguel C Riella, Marcelo Mazza do Nascimento
Introduction: The persistence of mineral metabolism disorders after renal transplant (RT) appears to possess a negative impact over graft and patient's survival. Objectives: To evaluate the parameters of mineral metabolism and the persistence of hyperparathyroidism (HPT) in transplanted patients for a 12-month period after the procedure. Methods: Retrospective analysis of 41 transplants (18 women- 44%, mean age of 39 ± 15 years) performed in a University Hospital, evaluating changes of calcium (Ca), phosphorus (P) and parathyroid hormone (PTH) and the prevalence of persistent HPT...
July 2016: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
Patience Meo Burt, Liping Xiao, Caroline Dealy, Melanie C Fisher, Marja M Hurley
Humans with X-linked hypophosphatemia (XLH) and Hyp mice, the murine homologue of the disease, develop severe osteoarthropathy and the precise factors that contribute to this joint degeneration remain largely unknown. Fibroblast growth factor 2 (FGF2) is a key regulatory growth factor in osteoarthritis. Although there are multiple FGF2 isoforms the potential involvement of specific FGF2 isoforms in joint degradation has not been investigated. Mice that overexpress the high molecular weight FGF2 isoforms in bone (HMWTg mice) phenocopy Hyp mice and XLH subjects and Hyp mice overexpress the HMWFGF2 isoforms in osteoblasts and osteocytes...
October 12, 2016: Endocrinology
Mélanie Gahier Penhoat, Delphine Drui, Catherine Ansquer, Eric Mirallie, Yves Maugars, Pascale Guillot
We report the case of a patient who presented with multiple brown tumors as the inaugural manifestation of primary hyperparathyroidism. Tc-99m hexakis methoxyisobutylisonitrile (99mTc-MIBI) scintigraphy demonstrated increased radiotracer uptake by the bone lesions. The patient was a 65-year-old male who sought advice for a swelling on his right shin. An osteolytic lesion was visible on the radiograph. A bone biopsy showed a benign tumor containing abundant osteoclastic cells. Laboratory abnormalities included hypercalcemia (3...
October 7, 2016: Joint, Bone, Spine: Revue du Rhumatisme
Burke A Cunha, John Gian
BACKGROUND: Hospitalized adults with fever and "pneumonia" can be a difficult diagnostic challenge particularly when the clinical findings may be due to different infectious diseases. METHODS: We recently had an elderly female who presented with fever, fatigue and dry cough with elevated serum transaminases and lung infiltrates. The diagnosis of Epstein-Barr virus (EBV) infectious mononucleosis (IM) was made based on a positive Monospot test, elevated EBV VCA IgM titer, and highly elevated EBV viral load...
October 3, 2016: Heart & Lung: the Journal of Critical Care
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
Peter E Cadman
As cannabis use has legalized for medical and recreational use in several states, the medical community has become more aware of the drug's potential toxicities. First described in 2004, cannabinoid hyperemesis syndrome is increasingly recognized as a cause of hospitalization among drug users. However, little information is available in the medical literature regarding electrolyte abnormalities in this syndrome. Between 2011 and 2014, six men were treated for cannabinoid hyperemesis syndrome at the Veterans Affairs Medical Center in San Diego, CA, and found to have significant hypophosphatemia (phosphate range, <1-1...
September 27, 2016: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
Shunsuke Goto, Hideki Fujii, Keiji Kono, Kentaro Watanabe, Kentaro Nakai, Shinichi Nishi
Fibroblast growth factor 23 (FGF23) is regulated by sustained phosphate supplementation and restriction. However, few studies have investigated FGF23 levels in patients with Fanconi syndrome. Therefore, we evaluated intact and C-terminal FGF23 and FGF23-associated parameters in four patients with Fanconi syndrome. Serum intact and C-terminal FGF23 levels were extremely low. Although serum phosphate and 1,25-dihydroxyvitamin D levels improved to or above the normal range within 1 year of treatment with oral phosphate and calcitriol, serum FGF23 levels remained low...
October 2016: Clinical Kidney Journal
Ekta Gupta, Jack B Fu
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
Siham Chafai Elalaoui, Nada Al-Sheqaih, Ilham Ratbi, Jill E Urquhart, James O'Sullivan, Sanjeev Bhaskar, Simon S Williams, Mustapha Elalloussi, Jaber Lyahyai, Leila Sbihi, Imane Cherkaoui Jaouad, Abdelhafid Sbihi, William G Newman, Abdelaziz Sefiani
Raine syndrome is a rare autosomal recessive bone dysplasia characterized by characteristic facial features with exophthalmos and generalized osteosclerosis. Amelogenesis imperfecta, hearing loss, seizures, and intracerebral calcification are apparent in some affected individuals. Originally, Raine syndrome was originally reported as a lethal syndrome. However, recently a milder phenotype, compatible with life, has been described. Biallelic variants inFAM20C, encoding aGolgi casein kinase involved in biomineralisation, have been identified in affected individuals...
September 22, 2016: European Journal of Medical Genetics
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
Nobuhiro Ariyoshi, Masayuki Nogi, Akika Ando, Hideaki Watanabe, Sari Umekawa
Relatively few studies have been conducted to evaluate the effect of hypophosphatemia on cardiac function. The goal of this review was to determine whether there is an association between hypophosphatemia and cardiac function and to increase awareness of hypophosphatemia-induced cardiomyopathy as a new clinical entity and a reversible cause of heart failure. We searched MEDLINE and PubMed from 1971 until March 2015 for primary studies, which reported the relationship between hypophosphatemia and cardiac function...
September 2016: American Journal of the Medical Sciences
Bas C J Majoor, Natasha M Appelman-Dijkstra, M Fiocco, Michiel A J van de Sande, P D Sander Dijkstra, Neveen A T Hamdy
INTRODUCTION: McCune-Albright syndrome (MAS) is a rare bone disorder characterized by fibrous dysplasia (FD), endocrinopathies and café-au-lait patches. FD patients have been shown to respond favourably to treatment with bisphosphonates, but data are scarce in the more severe polyostotic form (PFD), including MAS, and factors determining treatment outcome are not known, particularly in the long-term. METHODS: We evaluated the biochemical (bone turnover markers; BTMs) and clinical (pain reduction) outcome of bisphosphonate therapy in eleven patients with MAS and 30 patients with PFD: median duration of treatment 6 years (range 2-25)...
September 20, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Andrew M Vahabzadeh-Hagh, Brian D Zipser, Hongying T Tan, Austin Y Hong, Jon Mallen-St Clair, Bob B Armin
Brown tumors are a definitive feature of hyperparathyroidism. They are well-demarcated osteolytic lesions commonly in the appendicular skeleton. Primary hyperparathyroidism is typically suggested by hypercalcemia and hypophosphatemia on routine labs. Much more rarely do these cases present with a craniofacial mass. Here we investigate a unique presentation of terminal stage primary hyperparathyroidism with a growing maxillary mass emphasizing the importance of a broad differential diagnosis and key diagnostic studies...
September 19, 2016: Laryngoscope
Sang Pyo Lee, Eugene Park, Han Viet Kim, In-Kyung Sung, Jeong Hwan Kim, Sun-Young Lee, Hyung Seok Park, Chan Sup Shim
BACKGROUND: The use of polyethylene glycol (PEG)-based solutions is the gold standard for bowel preparation. However, PEG use might be associated with the risk of acute kidney injury. AIMS: We aimed to compare the safety of 2 L PEG plus ascorbic acid (AA) versus 4 L PEG. METHODS: Health examinees that underwent colonoscopy and blood tests on the same day at our center were included in this retrospective study. All subjects were prescribed either 2 L PEG plus AA or 4 L PEG for the bowel preparation prior to the colonoscopy...
November 2016: Digestive Diseases and Sciences
V Tsiamadis, G Banos, N Panousis, M Kritsepi-Konstantinou, G Arsenos, G E Valergakis
The main objective of this study was to assess the genetic parameters of subclinical disorders associated with subclinical hypocalcemia, hypophosphatemia, subclinical hypomagnesemia, hypokalemia, and hyperphosphatemia, as well as major clinical diseases after calving in Holstein cows. The secondary objective was to estimate the associated genetic and phenotypic correlations among these subclinical and clinical conditions after calving in Holstein cows. The study was conducted in 9 dairy herds located in Northern Greece...
September 7, 2016: Journal of Dairy Science
Chien-Yu Cheng, Shu-Yin Chang, Mei-Hui Lin, Shin-Yen Ku, Na-Lee Sun, Shu-Hsing Cheng
INTRODUCTION: Tenofovir disoproxil fumarate (TDF) -containing regimens have been associated with nephrotoxicity and hypophosphatemia in HIV-infected patients. The objective of this study was to assess the possible risk factors for hypophosphatemia and evaluate the relationship between fractional excretion of filtered phosphate (FePi) and hypophosphatemia in TDF users. PATIENT AND METHODS: Patients were enrolled in a prospective cohort study between January 2011 and December 2014...
September 6, 2016: Journal of Infection and Chemotherapy: Official Journal of the Japan Society of Chemotherapy
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