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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
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
Iben McCormick-Ricket, Melanie Canterberry, Atif Ghaffar, Nereida A Parada, Thomas W Carton
OBJECTIVE: Exposure to environmental tobacco smoke (ETS) in smoky venues puts patrons and employees at risk for immediate respiratory symptoms. Although much literature focuses on outcomes associated with chronic ETS exposure, the current study assesses changes in lung function after acute exposure. METHODS: Ninety-six nonsmoking, healthy adults were exposed to ETS at a bar. Lung function [eg, forced vital capacity (FVC), forced expiratory volume in 1 second (FEV1)] was assessed at baseline, immediately after 3 hours of ETS exposure, and 2 hours after exiting the bar...
October 2016: Journal of Occupational and Environmental 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
A Rugor, M Tataruch, J Staroń, A Dudzik, E Niedzialkowska, P Nowak, A Hogendorf, A Michalik-Zym, D B Napruszewska, A Jarzębski, K Szymańska, W Białas, M Szaleniec
Steroid C25 dehydrogenase (S25DH) from Sterolibacterium denitrificans Chol-1S is a molybdenum oxidoreductase belonging to the so-called ethylbenzene dehydrogenase (EBDH)-like subclass of DMSO reductases capable of the regioselective hydroxylation of cholesterol or cholecalciferol to 25-hydroxy products. Both products are important biologically active molecules: 25-hydroxycholesterol is responsible for a complex regulatory function in the immunological system, while 25-hydroxycholecalciferol (calcifediol) is the activated form of vitamin D3 used in the treatment of rickets and other calcium disorders...
October 11, 2016: Applied Microbiology and Biotechnology
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
Michael P Whyte, Katherine L Madson, Dawn Phillips, Amy L Reeves, William H McAlister, Amy Yakimoski, Karen E Mack, Kim Hamilton, Kori Kagan, Kenji P Fujita, David D Thompson, Scott Moseley, Tatjana Odrljin, Cheryl Rockman-Greenberg
Background. Hypophosphatasia (HPP) is caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Consequently, cell-surface deficiency of TNSALP phosphohydrolase activity leads to extracellular accumulation of inorganic pyrophosphate, a natural substrate of TNSALP and inhibitor of mineralization. Children with HPP can manifest rickets, skeletal pain, deformity, fracture, muscle weakness, and premature deciduous tooth loss. Asfotase alfa is a recombinant, bone-targeted, human TNSALP injected s...
June 16, 2016: JCI Insight
K E Dittmer, R E Morley, R L Smith
CASE HISTORY: A group of 545 pregnant rising 2-year-old Coopdale ewes on a Southland sheep farm were grazed over winter on a fodder beet (Beta vulgaris) crop. Subsequently, 45 out of approximately 750 lambs were born with a variety of skeletal deformities, including shortened limbs, varus and valgus angular limb deformities, palmar grade stance and cranial bowing of the carpus. Analysis of the crop showed the fodder beet contained a low percentage of phosphorus. In addition, 60 out of 460 rising 2-year-old ewes that had been grazed on the fodder beet crop as 1-year-olds had incisor abnormalities and malocclusion...
October 2, 2016: New Zealand Veterinary Journal
Elena Chiappini, Francesco Vierucci, Francesca Ghetti, Maurizio de Martino, Luisa Galli
OBJECTIVES: To evaluate vitamin D status in internationally adopted children at first medical evaluation in Italy and to identify possible risk factors for hypovitaminosis D in this population. METHODS: 25-hydroxyvitamin D [25(OH)D] levels were analyzed in internationally adopted children consecutively recruited at one Italian Center between 2010 and 2014 as part of the first screening protocol. Demographic, clinical and laboratory data were prospectively collected...
2016: PloS One
A Anastasiou, S N Karras, A Bais, W B Grant, K Kotsa, D G Goulis
Current evidence indicates that neonates born of mothers with vitamin D deficiency during pregnancy have greater risk for developing hypocalcemia, rickets and extra-skeletal disorders. Despite the classic knowledge that ultraviolet-B (UVB) exposure is the most efficient way for a future mother to obtain optimal vitamin D concentrations, no current consensus or clinical recommendations exist regarding the duration and timing of UVB exposure for pregnant women. This article offers a narrative review of available data regarding how UVB exposure affects maternal vitamin D production during pregnancy, along with a discourse on clinical implications of this public health issue...
September 28, 2016: European Journal of Clinical Nutrition
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
John Jacob Cannell, Michael F Holick
When an infant presents with X-rays showing multiple unexplained fractures in various stages of healing (MUFVSH), the child is usually diagnosed with child abuse based on criteria of the Academy of Pediatrics' Committee on Child Abuse and Neglect (AAPCCAAN). Almost always, the infant is subsequently removed from the home and civil or criminal proceeding commence. It may be that healing infantile rickets or other poorly understood metabolic bone disorders of infancy are responsible for these x-rays. Activated vitamin D is a seco-steroid hormone, whose mechanism of action is genetic regulation...
September 15, 2016: Journal of Steroid Biochemistry and Molecular Biology
Kazuma Nakagawa, Alexandra N Galati
No abstract text is available yet for this article.
October 18, 2016: Neurology
Marcela Zúñiga, Armando Galindo, María Isabel Galaz, Maritza Vivanco, Patricio Romero, Paulina Balboa, Claudia Torrejón
INTRODUCTION: Tenofovir (TDF) is an inhibitor of reverse transcriptase nucleotide analogue, although it has good tolerability and high anti-retroviral activity, its effect on the kidney has been a concern. OBJECTIVE: To describe a girl infected with HIV who presented Fanconi syndrome during antiretroviral therapy with TDF. CLINICAL CASE: We describe a HIV-1-infected girl, who after 18 months treatment with TDF presented loss of strength and pain of the lower extremities with functional impairment...
September 9, 2016: Revista Chilena de Pediatría
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
Bushra Afroze, Margaret Chen
Fanconi-Bickel syndrome is a rare inherited disorder characterized by hepatorenal glycogen accumulation, renal tubular dysfunction, growth failure, and impaired utilization of glucose and galactose. We report the first two children with Fanconi-Bickel syndrome from Pakistan who presented with classical features of Fanconi-Bickel Syndrome. Both patients were found to be homozygous for a single nucleotide deletion in the SLC2A2 gene defined as c.339delC. This mutation was previously described in an Arab patient who was initially presented as permanent neonatal diabetes mellitus before developing classical features of Fanconi-Bickel syndrome...
September 2016: Journal of Pediatric Genetics
Yujiro Hirao, Hirotaka Chikuda, Yasushi Oshima, Yoshitaka Matsubayashi, Sakae Tanaka
INTRODUCTION: Ectopic ossification of the spinal ligaments is not uncommon in patients with Vitamin D-resistant rickets (VDRR), but the long-term consequences of this condition have not been reported. PRESENTATION OF CASE: The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level...
2016: International Journal of Surgery Case Reports
Sherif N G Bishay, Mostafa H A El-Sherbini, Amre A Azzam, Ashraf A Lotfy
BACKGROUND: Rachitic genu varus is one of the common conditions among the Egyptian children, despite the shinning sun of Egypt all the year. PURPOSE: The aim of the study was to estimate the incidence of rachitic genu varus among the Egyptian children, and to assess the risk factors contributing to it. PATIENTS AND METHODS: This prospective study recruited a total of 250 consecutive children, being 130 males and 120 females, with rachitic bow legs or genu varus, between 2 - 4 years of age, together with 250 controls of the same age group, out of a total number of 1900 children with other types of rickets, and other children's orthopaedic diseases, who presented to the National Institute of Neuromotor System in Egypt between September 2014 to September 2015...
2016: Open Orthopaedics Journal
Justine Bacchetta, Marcella Greco, Aurélia Bertholet-Thomas, François Nobili, Jozef Zustin, Pierre Cochat, Francesco Emma, Georges Boivin
Hypophosphatemic rickets and short stature are observed in nephropathic cystinosis, an orphan autosomal recessive lysosomal storage disease due to a deficiency of cystinosin (CTNS gene). Although bone impairment is not common, it nevertheless appears to be more and more discussed by experts, even though the exact underlying pathophysiology is unclear. Four hypotheses are currently discussed to explain such impairment: copper deficiency, bone consequences of severe hypophosphatemic rickets during infancy, cysteamine toxicity and abnormal thyroid metabolism...
2016: BoneKEy Reports
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