2,318 results match your criteria Rickets Imaging


Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report.

J Med Case Rep 2019 Apr 24;13(1):101. Epub 2019 Apr 24.

Department of General Medicine, Gunma University Graduate School of Medicine, 3-39-15 Showa-machi, Maebashi, Gunma, 371-8511, Japan.

Background: Hypophosphatasia is an inherited bone disease characterized by low alkaline phosphatase activity encoded by ALPL. Clinically, hypophosphatasia can be categorized as perinatal, infantile, childhood, and adult forms, as well as odonto-hypophosphatasia, according to the age at first sign or dental manifestations. Adult hypophosphatasia typically presents in middle-aged patients who appear to be in good health in early adulthood and manifests as painful feet caused by recurrent, slow-healing stress fractures of the lower limb. Read More

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https://jmedicalcasereports.biomedcentral.com/articles/10.11
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http://dx.doi.org/10.1186/s13256-019-2045-4DOI Listing
April 2019
1 Read

Detecting reasons for recurrent deformity in treatment of patients with vitamin D-resistant rickets using diagnostic imaging.

J Orthop 2019 Jul-Aug;16(4):325-328. Epub 2019 Mar 22.

Trauma and Orthopaedic Department No.13, Russian Ilizarov Scientific Centre "Restorative Traumatology and Orthopaedics", Kurgan, Russia.

Purpose: To assess age related manifestations of the femur and tibia in patients with vitamin D-resistant rickets (VDR) and explore causes for recurrent deformity using imaging modalities.

Methods: Computed tomography (CT), magnetic resonance imaging (MRI) and dual energy X-ray densitometry (DEXA) were used to assess conditions of long bones of lower limbs in patients with vitamin D-resistant rickets aged from 4 years to 30 years preoperatively and after limb lengthening.

Results: Age related MRI findings showed specific structure of the femur and tibia in patients with VDR preoperatively and after operative treatment. Read More

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http://dx.doi.org/10.1016/j.jor.2019.02.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6441721PMC

Autosomal Dominant Hypophosphatemic Rickets Presenting in a Phenotypically Normal Adult Female.

Case Rep Endocrinol 2019 4;2019:8917519. Epub 2019 Mar 4.

Division of Endocrinology, Diabetes and Metabolism, University of Cincinnati, 231 Albert Sabin Way, Cincinnati, OH 45267-0542, USA.

We describe a presentation of Autosomal Dominant Hypophosphatemic Rickets (ADHR) in a 22-year-old female with normal pubertal growth and development and a negative family history in first-degree relatives. The patient presented with a 2-year history of upper and lower extremity proximal muscle pain and weakness and bilateral femoral neck and pubic bone insufficiency fractures. She had a normal serum calcium but a low phosphate as well as 25-hydroxyvitamin D (25(OH)D) levels leading initially to a diagnosis of osteomalacia. Read More

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http://dx.doi.org/10.1155/2019/8917519DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6425306PMC
March 2019
1 Read

Review of paraneoplastic syndromes in children.

Pediatr Radiol 2019 Apr 16;49(4):534-550. Epub 2019 Mar 16.

Department of Radiology, Boston Children's Hospital, 300 Longwood Ave., Boston, MA, 02215, USA.

Paraneoplastic syndromes are defined as clinical syndromes that are not related to direct tumor invasion or compression but are secondary to tumor secretion of functional peptides/hormones or related to immune cross-reactivity with normal host tissue. Paraneoplastic syndromes have a wide range of presentations and can present before the primary malignancy or tumor recurrence is diagnosed. They can mimic non-neoplastic processes, making detection, diagnosis and treatment difficult. Read More

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http://dx.doi.org/10.1007/s00247-019-04371-yDOI Listing
April 2019
5 Reads

Tumor-induced osteomalacia.

Osteoporos Sarcopenia 2018 Dec 12;4(4):119-127. Epub 2018 Dec 12.

Department of Endocrinology, Key Laboratory of Endocrinology, The National Commission of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.

Tumor-induced osteomalacia (TIO), also known as oncogenic osteomalacia, is a rare paraneoplastic syndrome characterized by hypophosphatemia resulting from decreased tubular phosphate reabsorption, with a low or inappropriately normal level of active vitamin D. The culprit tumors of TIO could produce fibroblast growth factor 23 which plays a role in regulating renal Pi handling and 25-hydroxyvitamin D 1α-hydroxylase activity. Chronic hypophosphatemia could eventually lead to inadequate bone mineralization, presenting as osteomalacia. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S24055255183009
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http://dx.doi.org/10.1016/j.afos.2018.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372818PMC
December 2018
6 Reads

Spot the silent sufferers: A call for clinical diagnostic criteria for solar and nutritional osteomalacia.

J Steroid Biochem Mol Biol 2019 Apr 14;188:141-146. Epub 2019 Jan 14.

Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University, Linz, Austria. Electronic address:

Osteomalacia and rickets result from defective mineralization when the body is deprived of calcium. Globally, the main cause of osteomalacia is a lack of mineral supply for bone modeling and remodeling due to solar vitamin D and/or dietary calcium deficiency. Osteomalacia occurs when existing bone is replaced by unmineralized bone matrix (osteoid) during remodeling in children and adults, or when newly formed bone is not mineralized in time during modeling in children. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09600760183054
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http://dx.doi.org/10.1016/j.jsbmb.2019.01.004DOI Listing
April 2019
15 Reads

[Value of Ga-DOTA-TATE Positron Emission Tomography/Computed Tomography in the Localization of Culprit Tumors Causing Osteomalacia with Negative Tc-HYNIC-TOC Single Photo Emission Computed Tomography].

Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2018 Dec;40(6):757-764

Department of Nuclear Medicine, ,Beijing 100730,China.

Objective To analyze Ga-DOTA-TATE positron emission tomography/computed tomography (PET/CT) imaging features of tumor-indud osteomalacia (TIO) patients with negative Tc-HYNIC-TOC single photo emission computed tomography (SPECT) findings and to investigate the value of Ga-DOTA-TATE PET/CT in accurate localization of culprit tumors.Methods We retrospectively analyzed Ga-DOTA-TATE PET/CT imaging features including location,size,density,the maximum and mean standardized uptake value in 37 TIO patients with negative Tc-HYNIC-TOC SPECT findings.Results Totally 37 solitary TIO tumors,including 35 phosphaturic mesenchymal tumors and 2 spindle cell tumors confirmed by pathological examinations,were detected via Ga-DOTA-TATE PET/CT scans in the included 37 cases. Read More

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http://dx.doi.org/10.3881/j.issn.1000-503X.10693DOI Listing
December 2018
2 Reads

High Incidence of Cranial Synostosis and Chiari I Malformation in Children With X-Linked Hypophosphatemic Rickets (XLHR).

J Bone Miner Res 2019 Mar 20;34(3):490-496. Epub 2018 Nov 20.

Pediatric Neurosurgery, Hôpital Femme Mère Enfant, Hospices Civiles de Lyon and University Claude Bernard Lyon 1, Bron Cedex, France.

X-linked hypophosphatemic rickets (XLHR) represents the most common form of genetic hypophosphatemia and causes rickets and osteomalacia in children because of increased FGF23 secretion and renal phosphate wasting. Even though cranial vault and craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial sutures and Chiari type I malformation, have been observed in children with XLHR, their actual incidence and characteristics are not established. The aims of this study were to analyze the incidence of cranial and cervico-occipital junction (COJ) anomalies in children with XLHR and describe its features. Read More

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http://dx.doi.org/10.1002/jbmr.3614DOI Listing
March 2019
21 Reads

[Rickets/Osteomalacia. Diagnosis of tumor-induced osteomalacia.]

Clin Calcium 2018;28(10):1351-1357

Department of Nephrology and Endocrinology, The University of Tokyo Hospital, Japan.

Tumor-induced osteomalacia is a fibroblast growth factor 23(FGF23)-related hypophosphatemic disorder caused by FGF23 producing tumor. TIO represents bone pain, fracture/pseudofracture, muscle weakness, etc which could lead the patient bedridden. Serum phosphate level of these patients is low with concomitant inappropriately elevated FGF23 level. Read More

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http://dx.doi.org/CliCa181013511357DOI Listing
January 2018
9 Reads

Extreme scoliosis from CKD-MBD resulting in respiratory failure and death.

BMJ Case Rep 2018 Sep 23;2018. Epub 2018 Sep 23.

Department of Internal Medicine, Okinawa Chubu Hospital, Uruma, Japan.

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http://dx.doi.org/10.1136/bcr-2018-226249DOI Listing
September 2018
4 Reads

Tertiary Hyperparathyroidism With Renal Osteodystrophy on 18F-Fluorocholine PET/CT.

Clin Nucl Med 2018 Oct;43(10):766-768

From the Department of Nuclear Medicine, Northwest Clinics, Alkmaar, the Netherlands.

A 27-year-old man, with a history of chronic renal failure due to obstructive uropathy, treated with hemodialysis and awaiting kidney transplantation, presented with tertiary hyperparathyroidism. Despite regulation of phosphate and calcium and treatment with cinacalcet, the serum parathyroid hormone levels remained elevated. The patient was referred for parathyroidectomy, and a F-fluorocholine PET/CT was acquired for preoperative planning. Read More

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http://Insights.ovid.com/crossref?an=00003072-900000000-9747
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http://dx.doi.org/10.1097/RLU.0000000000002230DOI Listing
October 2018
14 Reads

Skeletal status assessment by quantitative ultrasound and bone densitometry in children with different renal conditions.

Osteoporos Int 2018 Dec 20;29(12):2667-2675. Epub 2018 Aug 20.

Chair of Internal Medicine, Diabetology and Nephrology, Metabolic Bone Diseases Unit, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia in Katowice, Katowice, Poland.

Two methods of skeletal status assessment-quantitative ultrasound (QUS) and densitometry (DXA)-were applied and compared in a group of children with different renal disorders. Skeletal assessments in children with different renal conditions should rather not be based on a single diagnostic tool. Lumbar spine DXA is very effective to reveal disturbances secondary to glucocorticoids, whereas total body DXA and QUS are both better in identification of disturbances related to decreased GFR. Read More

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http://dx.doi.org/10.1007/s00198-018-4659-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6267138PMC
December 2018
2 Reads

Is serum sclerostin a marker of atherosclerosis in patients with chronic kidney disease-mineral and bone disorder?

Int Urol Nephrol 2018 Oct 20;50(10):1863-1870. Epub 2018 Jul 20.

University Department of Nephrology, Medical Faculty, University of Skopje, Skopje, Macedonia.

Purpose: The complexity of chronic kidney disease-mineral and bone disorder (CKD-MBD) led to many preclinical and clinical trials. The role of sclerostin in renal pathophysiology remained unresolved, and question whether sclerostin is related to cardiovascular (CV) outcome in patients with CKD is still open. Our aim was to evaluate the possible association between serum sclerostin levels and carotid intima-media thickness (CIMT) in CV pathophysiology through various CKD stages. Read More

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http://link.springer.com/10.1007/s11255-018-1935-5
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http://dx.doi.org/10.1007/s11255-018-1935-5DOI Listing
October 2018
6 Reads

Recurrent/Residual Intracranial Phosphaturic Mesenchymal Tumor Revealed on 68Ga-DOTATATE PET/CT.

Clin Nucl Med 2018 Sep;43(9):674-675

From the Department of Nuclear Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing; and Beijing Key Laboratory of Molecular Targeted Diagnosis and Therapy in Nuclear Medicine, Beijing, China.

Phosphaturic mesenchymal tumors are benign tumors causing majority of tumor-induced osteomalacia. These tumors are most commonly located in the lower extremities followed by craniofacial regions. However, intracranial lesion is very rare. Read More

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http://dx.doi.org/10.1097/RLU.0000000000002205DOI Listing
September 2018
10 Reads

Imaging features of phosphaturic mesenchymal tumors.

Skeletal Radiol 2019 Jan 9;48(1):119-127. Epub 2018 Jul 9.

Department of Radiology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.

Objective: To examine the CT and MR imaging features of phosphaturic mesenchymal tumors (PMTs).

Materials And Methods: With IRB approval, our institutional radiology/pathology database was reviewed for pathologically-proven PMTs. CT and MRI examinations were reviewed in consensus noting several imaging features, and if available, comparative molecular imaging tests were analyzed. Read More

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http://link.springer.com/10.1007/s00256-018-3014-5
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http://dx.doi.org/10.1007/s00256-018-3014-5DOI Listing
January 2019
30 Reads

Targeted resequencing of phosphorus metabolism‑related genes in 86 patients with hypophosphatemic rickets/osteomalacia.

Int J Mol Med 2018 Sep 13;42(3):1603-1614. Epub 2018 Jun 13.

Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Key Clinical Center for Metabolic Disease, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, P.R. China.

Hypophosphatemic rickets/osteomalacia is characterized by defective renal phosphate reabsorption and abnormal bone mineralization. Hypophosphatemic rickets/osteomalacia consists of inherited and acquired forms, many of which have unknown aetiology. In the present study, next‑generation sequencing‑based resequencing was used on samples from Chinese subjects with hypophosphatemic rickets/osteomalacia, aiming to detect the spectrum of pathogenic genes in these patients. Read More

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http://dx.doi.org/10.3892/ijmm.2018.3730DOI Listing
September 2018

Burosumab Therapy in Children with X-Linked Hypophosphatemia.

N Engl J Med 2018 05;378(21):1987-1998

From Yale University School of Medicine, New Haven, CT (T.O.C.); Shriners Hospital for Children and Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis (M.P.W.); Indiana University School of Medicine, Indianapolis (E.A.I.); University of Groningen, Groningen, the Netherlands (A.M.B.); Birmingham Children's Hospital, Birmingham (W. Högler), Royal Manchester Children's Hospital, Manchester (R.P.), and Great Ormond Street Hospital, London (W. van't Hoff) - all in the United Kingdom; Assistance Publique-Hôpitaux de Paris Hôpital Bicêtre, Paris (A.L.); and Ultragenyx Pharmaceutical, Novato (M.M., C.-Y.C., A.S., E.K., J.S.M.), and University of California at San Francisco, San Francisco (A.A.P.) - both in California.

Background: X-linked hypophosphatemia is characterized by increased secretion of fibroblast growth factor 23 (FGF-23), which leads to hypophosphatemia and consequently rickets, osteomalacia, and skeletal deformities. We investigated burosumab, a monoclonal antibody that targets FGF-23, in patients with X-linked hypophosphatemia.

Methods: In an open-label, phase 2 trial, we randomly assigned 52 children with X-linked hypophosphatemia, in a 1:1 ratio, to receive subcutaneous burosumab either every 2 weeks or every 4 weeks; the dose was adjusted to achieve a serum phosphorus level at the low end of the normal range. Read More

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http://dx.doi.org/10.1056/NEJMoa1714641DOI Listing
May 2018
6 Reads

Classical metaphyseal lesions thought to be pathognomonic of child abuse are often artifacts or indicative of metabolic bone disease.

Med Hypotheses 2018 Jun 30;115:65-71. Epub 2018 Mar 30.

Department of Pediatrics and Pathology, Wright State University Boonshoft School of Medicine, Dayton, OH, United States.

Objective: The objective of the present study was to review the histopathology in the original articles by authors Kleinman and Marks that described the specificity of the classical metaphyseal lesion for child abuse and to determine if there were any oversights in the authors' analysis.

Methods: We reviewed the histopathology of the original studies that equated the classical metaphyseal lesion with child abuse. We compared this with the histopathology of metaphyseal fractures caused by known accidental, severe trauma in children and reviewed the histopathology of artifacts that can sometimes be produced in bone histology preparations. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03069877183017
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http://dx.doi.org/10.1016/j.mehy.2018.03.017DOI Listing
June 2018
9 Reads

Raman Spectroscopic and Microscopic Analysis for Monitoring Renal Osteodystrophy Signatures.

Biosensors (Basel) 2018 Apr 8;8(2). Epub 2018 Apr 8.

Department of Physics, University of Texas at El Paso, El Paso, TX 79968, USA.

Defining the pathogenesis of renal osteodystrophy (ROD) and its treatment efficacy are difficult, since many factors potentially affect bone quality. In this study, confocal Raman microscopy and parallel statistical analysis were used to identify differences in bone composition between healthy and ROD bone tissues through direct visualization of three main compositional parametric ratios, namely, calcium content, mineral-to-matrix, and carbonate-to-matrix. Besides the substantially lower values found in ROD specimens for these representative ratios, an obvious accumulation of phenylalanine is Raman spectroscopically observed for the first time in ROD samples and reported here. Read More

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http://dx.doi.org/10.3390/bios8020038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6022865PMC
April 2018
3 Reads

Sjögren's Syndrome Associated with Fanconi's Syndrome and Osteomalacia.

Am J Case Rep 2018 Apr 3;19:392-396. Epub 2018 Apr 3.

Department of Rheumatology, Unidad de Enfermedades Reumáticas y Autoinmunes [UNERA] (Unit of Rheumatology and Autoimmune Diseases), Guayaquil, Ecuador.

BACKGROUND Sjögren's syndrome is a chronic inflammatory autoimmune disease, which is also known as sicca syndrome, due to the symptoms of dry eyes and dry mouth, and is associated with other connective tissue diseases and autoimmune diseases. Sjögren's syndrome can also be associated with renal involvement. Fanconi's syndrome is associated with impaired reabsorption in the proximal renal tubule associated with tubulointerstitial nephritis and is associated with renal tubular acidosis and hypophosphatemia. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5900466PMC
April 2018
14 Reads

Health Risks of Hypovitaminosis D: A Review of New Molecular Insights.

Int J Mol Sci 2018 Mar 17;19(3). Epub 2018 Mar 17.

Department of Biomedical Sciences, Dental Sciences, and Morpho-functional Imaging, University of Messina, 98125 Messina, Italy.

Hypovitaminosis D has become a pandemic, being observed in all ethnicities and age groups worldwide. Environmental factors, such as increased air pollution and reduced ultraviolet B (UVB) irradiation, as well as lifestyle factors, i.e. Read More

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http://dx.doi.org/10.3390/ijms19030892DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877753PMC

CT and MR imaging features in phosphaturic mesenchymal tumor-mixed connective tissue: A case report.

Oncol Lett 2018 Apr 5;15(4):4970-4978. Epub 2018 Feb 5.

Fujian Medical University, Fuzhou, Fujian 350005, P.R. China.

Phosphaturic mesenchymal tumor-mixed connective tissue (PMT-MCT) is rare and usually benign and slow-growing. The majority of these tumors is associated with sporadic tumor-induced osteomalacia (TIO) or rickets, affect middle-aged individuals and are located in the extremities. Previous imaging studies often focused on seeking the causative tumors of TIO, not on the radiological features of these tumors, especially magnetic resonance imaging (MRI) features. Read More

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http://www.spandidos-publications.com/10.3892/ol.2018.7945
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http://dx.doi.org/10.3892/ol.2018.7945DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5840497PMC
April 2018
7 Reads

Diagnostic performance and impact on patient management of Ga-DOTA-TOC PET/CT for detecting osteomalacia-associated tumours.

Eur J Nucl Med Mol Imaging 2018 09 12;45(10):1710-1720. Epub 2018 Mar 12.

Médecine nucléaire, Hôpital Tenon, AP-HP, 4 rue de la Chine, 75020, Paris, France.

Purpose: Oncogenic osteomalacia is an endocrine disorder induced by small benign tumours (TIO) producing excessive fibroblast growth factor-23 (FGF23). The only way of curing oncogenic osteomalacia is surgical resection of the culprit TIO, which is extremely difficult to detect using conventional imaging modalities due to its small size and variable location in the body. Since TIO frequently overexpress somatostatin receptors, a clinical utility of SPECT or PET with radiolabelled somatostatin analogues has been reported. Read More

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http://dx.doi.org/10.1007/s00259-018-3971-xDOI Listing
September 2018
17 Reads

Results of mammary glands topometry among yakut women with focus on age and importance of age in augmentation mammoplasty.

Wiad Lek 2017;70(6 pt 1):1042-1046

Medical Institute of North-Eastern Federal University Named After M. K. Ammosov, Yakutsk, Russia.

Objective: Introduction: In connection with the development of plastic and aesthetic surgery, there is a steady growth in aesthetic mammoplasty. Modern aesthetics require an emphasis on and accentuation of mammary glands. For our region it is obvious that the physical and sexual development of girls living in the harsh continental climate of Yakutia has its own characteristics. Read More

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June 2018
7 Reads

Phosphaturic mesenchymal tumors: what an endocrinologist should know.

J Endocrinol Invest 2018 Oct 14;41(10):1173-1184. Epub 2018 Feb 14.

Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 1st Street SW, Rochester, MN, 55905, USA.

Tumor-induced osteomalacia (TIO), also known as "oncogenic osteomalacia", is a rare cause of osteomalacia. TIO often has an insidious onset characterized clinically by progressive muscle weakness and bone pain with fractures. The hallmark biochemical finding is a persistent low serum phosphorus concentration due to renal phosphate wasting. Read More

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http://link.springer.com/10.1007/s40618-018-0849-5
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http://dx.doi.org/10.1007/s40618-018-0849-5DOI Listing
October 2018
7 Reads

Occult phosphaturic mesenchymal tumour of femur cortex causing oncogenic osteomalacia - diagnostic challenges and clinical outcomes.

Endokrynol Pol 2018 14;69(2):205-210. Epub 2018 Feb 14.

Department of Endocrinology Diabetology and Metabolic Disorders, Venkateshwar Hospitals, Dwarka, New Delhi.

Background: Tumor induced osteomalacia (TIO) are extremely rare paraneoplastic syndrome with less than 300 reported cases. This report highlights the pitfalls and challenges in diagnosing and localizing TIO in patients with refractory and resistant osteomalacia.

Patient And Methods: 41- year gentleman with 4-year history of musculoskeletal weakness and pathologic fractures presented in wheelchair bound incapacitated state of 1-year duration. Read More

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http://dx.doi.org/10.5603/EP.a2018.0016DOI Listing
October 2018
14 Reads

Rare, genetically conditioned forms of rickets: Differential diagnosis and advances in diagnostics and treatment.

Clin Genet 2018 Jul 25;94(1):103-114. Epub 2018 Mar 25.

Department of Propedeutics Pediatrics and Bone Metabolic Diseases, Medical University of Lodz, Lodz, Poland.

Apart from the classic forms of rickets, there are rare genetic disorders from the group of vitamin D-resistant rickets where the clinical picture is very similar to the classic forms. Diagnosis of genetically conditioned rickets is often delayed. It is very important to know that a disorder of genetic background may be the cause of the failure of classic treatment in patients with rachitic symptoms. Read More

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http://dx.doi.org/10.1111/cge.13229DOI Listing
July 2018
11 Reads

The Primary Physis.

Semin Musculoskelet Radiol 2018 Feb 6;22(1):95-103. Epub 2018 Feb 6.

Department of Radiology and Pediatrics, Penn State College of Medicine, Hershey, Pennsylvania.

The primary physis is responsible for long bone growth in children and adolescents. Injury and physiologic or metabolic stress to the primary physis present unique radiologic findings that are important for radiologists to recognize and diagnose. Appreciation of the anatomy and histology of the primary physis forms the basis for understanding the imaging findings associated with pathologic conditions affecting the primary physis. Read More

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http://dx.doi.org/10.1055/s-0037-1608002DOI Listing
February 2018
7 Reads

A case report of phosphaturic mesenchymal tumor-induced osteomalacia.

Medicine (Baltimore) 2017 Dec;96(51):e9470

Department of Orthopedics.

Rationale: Tumor-induced osteomalacia (TIO) is a rare and often misdiagnosed syndrome. Surgical resection is currently the first line treatment for TIO.

Patient Concerns: Here we report the case of a 49-year-old woman presented with intermittent pain in the right chest and bilateral hip that had persisted for over two years. Read More

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http://dx.doi.org/10.1097/MD.0000000000009470DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758288PMC
December 2017
8 Reads

Glomus tumor as a cause of oncogenic osteomalacia.

Clin Cases Miner Bone Metab 2017 Sep-Dec;14(3):359-362. Epub 2017 Dec 27.

Medical Imaging Research Center, Department of Radiology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

Many tumors that occasionally are benign in origin causes hypophosphatemic osteomalacia. Here we present a case of glomus tumor in a 59-year-old man with oncogenic osteomalacia. Diagnosis was made after observation of abnormal increase activity in octreotide scan. Read More

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http://dx.doi.org/10.11138/ccmbm/2017.14.3.359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5762230PMC
December 2017
11 Reads

Incidental Bony Changes on Infant Chest Radiograph.

J Emerg Med 2018 03 18;54(3):380-381. Epub 2017 Dec 18.

Department of Emergency Medicine, University of California San Diego, San Diego, California; Division of Emergency Medicine, Rady Children's Hospital San Diego, San Diego, California.

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http://dx.doi.org/10.1016/j.jemermed.2017.11.030DOI Listing
March 2018
5 Reads

Rickets.

Nat Rev Dis Primers 2017 Dec 21;3:17101. Epub 2017 Dec 21.

South African Medical Research Council-Wits Developmental Pathways for Health Research Unit, Department of Paediatrics, Faculty of Health Sciences, University of the Witwatersrand, 7 York Road, Parktown, Johannesburg 2194, South Africa.

Rickets is a bone disease associated with abnormal serum calcium and phosphate levels. The clinical presentation is heterogeneous and depends on the age of onset and pathogenesis but includes bowing deformities of the legs, short stature and widening of joints. The disorder can be caused by nutritional deficiencies or genetic defects. Read More

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http://dx.doi.org/10.1038/nrdp.2017.101DOI Listing
December 2017
10 Reads

[Bone biopsy in the Chronic Kidney Disease (CKD)].

G Ital Nefrol 2017 Dec 5;34(Nov-Dec). Epub 2017 Dec 5.

Department of Medicine, Section of Internal Medicine D, University of Verona, Italy.

Histomorphometry or quantitative histology is the analysis on histologic sections of bone resorption, formation and structure parameters. It is the only technique allowing a dynamic evaluation of osteoblast activity after labelling with tetracycline. In addition, the use of computed image analyzer allows the possibility to assess bone microarchitecture. Read More

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December 2017
4 Reads

[Fragility fracture in the Chronic Kidney Disease (CKD)].

G Ital Nefrol 2017 Dec 5;34(Nov-Dec). Epub 2017 Dec 5.

Bone Clinic, Dipartimento delle Cure Geriatriche, Ortogeriatria e Riabilitazione, Ospedale Galliera, Genova, Italia.

Fragility fractures (FF) are common in patients with chronic kidney disease (CKD), and they occur at a younger age and with a higher frequency than in the general population, producing significant morbidity, mortality and healthcare costs. The pathogenic mechanisms underlying FF in CKD patients have not been completely understood. Behind CKD-MBD, the uremic toxicity should play a role in their pathogenesis, by affecting bone quality (uremic osteoporosis). Read More

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December 2017
3 Reads

Distinguishing child abuse fractures from rickets.

Authors:
Alan E Oestreich

Pediatr Radiol 2018 03 24;48(3):305-307. Epub 2017 Nov 24.

Department of Radiology ML5031, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave., Cincinnati, OH, 45229-3039, USA.

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http://dx.doi.org/10.1007/s00247-017-4037-0DOI Listing
March 2018
5 Reads

Impact of Multidecadal Climate Variability on United Kingdom Rickets Rates.

Sci Rep 2017 Nov 17;7(1):15764. Epub 2017 Nov 17.

Department of Physics, University of Toronto, 60 St. George Street, Toronto, ON, M5S 1A7, Canada.

Children who receive inadequate exposure to sunlight have reduced levels of vitamin D, resulting in rickets, a disease that is characterized by bone deformity, stunted growth, and long term pronounced disability. The United Kingdom rickets incidence rates declined from the early 1960's to mid-1990's, after which there was a dramatic increase. The reason for this change is not well understood. Read More

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http://dx.doi.org/10.1038/s41598-017-16058-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5693953PMC
November 2017
5 Reads

Renal osteodystrophy presenting as a metabolic superscan on F-18 FDG PET/CT: A case report.

Medicine (Baltimore) 2017 Nov;96(46):e8471

Department of Nuclear Medicine, University of Pretoria and Steve Biko Academic Hospital, Pretoria, South Africa.

Rationale: F-18 Fluoro Deoxyglucose positron emission tomography and computed tomography (F-18 FDG PET/CT) is a useful modality in the evaluation of patients with malignancies. Increased incidence of lympho-proliferative disorders has been reported in individuals with long-standing end-stage renal disorders treated with renal replacement therapy.

Patient Concerns: A 30-year-old male on peritoneal dialysis on account of end-stage renal disease. Read More

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http://dx.doi.org/10.1097/MD.0000000000008471DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5704796PMC
November 2017
13 Reads

Advances in the evaluation of bone health in kidney transplant patients.

Nefrologia 2018 Jan - Feb;38(1):27-33. Epub 2017 Nov 11.

Servicio de Nefrología, Hospital del Mar, Barcelona, España; Institut Mar d'Investigacions Mediques, Barcelona, España; REDinREN, Instituto Carlos III, Madrid, España. Electronic address:

Bone disease related to chronic kidney disease and, particularly, to kidney transplant patients is a common cause or morbidity and mortality, especially due to a higher risk of osteoporotic fractures. Despite the fact that this has been known for decades, to date, an appropriate diagnostic strategy has yet to be established. Apart from bone biopsy, which is invasive and scarcely used, no other technique is available to accurately establish the risk of fracture in kidney patients. Read More

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http://dx.doi.org/10.1016/j.nefro.2017.04.002DOI Listing
October 2018
10 Reads

Stenosis Before Thrombosis: Intracranial Hypertension from Jugular Foramen Stenosis Secondary to Renal Osteodystrophy.

World Neurosurg 2018 Jan 23;109:129-133. Epub 2017 Sep 23.

Department of Neurosurgery, University of Illinois at Chicago, Chicago, Illinois, USA. Electronic address:

Background: Venous outflow obstructions are rare anatomic findings that can appear with symptoms of elevated intracranial pressure, including headache and vision loss, and can be mistaken for more common diagnoses, such as idiopathic intracranial hypertension (IIH) or cerebral venous sinus thrombosis (CVST). Although venous outflow obstructions have been reported in rare bone dysplasias and congenital abnormalities, to date they have not been reported in renal osteodystrophy (ROD), a relatively common disorder seen in patients with chronic kidney disease.

Case Description: In this case, the authors describe a patient with marked intracranial hypertension from jugular foramen stenosis secondary to ROD. Read More

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http://dx.doi.org/10.1016/j.wneu.2017.09.106DOI Listing
January 2018
48 Reads

Inhibition of FGFR Signaling Partially Rescues Hypophosphatemic Rickets in HMWFGF2 Tg Male Mice.

Endocrinology 2017 10;158(10):3629-3646

Department of Medicine, University of Connecticut School of Medicine, UConn Health, Farmington, Connecticut, 06030-052.

Transgenic mice harboring high molecular weight fibroblast growth factor (FGF)2 isoforms (HMWTg) in osteoblast lineage cells phenocopy human X-linked hypophosphatemic rickets (XLH) and Hyp murine model of XLH demonstrating increased FGF23/FGF receptor signaling and hypophosphatemic rickets. Because HMWFGF2 was upregulated in bones of Hyp mice and abnormal FGF receptor (FGFR) signaling is important in XLH, HMWTg mice were used to examine the effect of the FGFR inhibitor NVP-BGJ398, now in clinical trials for cancer therapy, on hypophosphatemic rickets. Short-term treatment with NVP-BGJ398 rescued abnormal FGFR signaling and hypophosphatemia in HMWTg. Read More

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http://dx.doi.org/10.1210/en.2016-1617DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5659690PMC
October 2017
16 Reads

Treatment and outcomes of tumor-induced osteomalacia associated with phosphaturic mesenchymal tumors: retrospective review of 12 patients.

BMC Musculoskelet Disord 2017 Sep 21;18(1):403. Epub 2017 Sep 21.

Department of Endocrinology, Beijing Jishuitan Hospital, Xicheng District, Xinjiekoudongjie No. 31, Beijing, 100035, China.

Background: Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by severe hypophosphatemia and osteomalacia. Nonspecific symptoms make the diagnosis elusive. In addition, locating the responsible tumor(s) is challenging. Read More

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http://dx.doi.org/10.1186/s12891-017-1756-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5609032PMC
September 2017
23 Reads

Advanced glycation end-products (AGEs) accumulation in skin: relations with chronic kidney disease-mineral and bone disorder.

J Bras Nefrol 2017 Jul-Sep;39(3):253-260. Epub 2017 Aug 28.

Universidade Estadual de Campinas.

Introduction: Chronic kidney disease (CKD) is associated with high morbidity and mortality rates, main causes related with cardiovascular disease (CVD) and bone mineral disorder (CKD-BMD). Uremic toxins, as advanced glycation end products (AGEs), are non-traditional cardiovascular risk factor and play a role on development of CKD-BMD in CKD. The measurement of skin autofluorescence (sAF) is a noninvasive method to assess the level of AGEs in tissue, validated in CKD patients. Read More

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http://dx.doi.org/10.5935/0101-2800.20170042DOI Listing
July 2018
17 Reads

Defective Mineralization in X-Linked Hypophosphatemia Dental Pulp Cell Cultures.

J Dent Res 2018 02 7;97(2):184-191. Epub 2017 Sep 7.

1 EA 2496 Laboratory Orofacial Pathologies, Imaging and Biotherapies, Dental School University Paris Descartes Sorbonne Paris Cité, and Life imaging Platform (PIV), Montrouge, France.

X-linked hypophosphatemia (XLH) is a skeletal disease caused by inactivating mutations in the PHEX gene. Mutated or absent PHEX protein/enzyme leads to a decreased serum phosphate level, which cause mineralization defects in the skeleton and teeth (osteomalacia/odontomalacia). It is not yet altogether clear whether these manifestations are caused solely by insufficient circulating phosphate availability for mineralization or also by a direct, local intrinsic effect caused by impaired PHEX activity. Read More

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http://dx.doi.org/10.1177/0022034517728497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6429567PMC
February 2018
23 Reads

Multiple pseudofractures due to Fanconi's syndrome associated with Wilson's disease.

Rinsho Shinkeigaku 2017 09 31;57(9):527-530. Epub 2017 Aug 31.

Department of Neurology, Faculty of Medicine, University of Yamanashi.

We report a 40-year-old man who presented with multiple bone pseudofractures after about 20 years from the onset of Wilson's disease (WD). At age 36, he first noticed pain in his left shoulder. At age 39, he had multiple chest pain. Read More

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http://dx.doi.org/10.5692/clinicalneurol.cn-000953DOI Listing
September 2017
1 Read

Nephrolithiasis and Osteomalacia associated with adefovir-induced Fanconi syndrome in a patient with hepatitis B.

BMC Nephrol 2017 Aug 29;18(1):275. Epub 2017 Aug 29.

Department of Traditional Chinese Medicine, Zhong Shan Hospital Xiamen University, No. 201 Hubin nan Road, Xiamen, Fujian, 361004, China.

Background: An increasing number of case reports suggest that acquired renal Fanconi syndrome may be associated with prolonged use of adefovir against hepatitis B virus. Renal Fanconi syndrome is an uncommon disease, and its complication with nephrolithiasis is quite rare. Herein, we report a rare coexistence of nephrolithiasis and acquired renal Fanconi syndrome in a chronic hepatitis B-positive patient with prolonged adefovir therapy. Read More

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http://dx.doi.org/10.1186/s12882-017-0693-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5576285PMC
August 2017
8 Reads

Update on the role of bone biopsy in the management of patients with CKD-MBD.

J Nephrol 2017 Oct 22;30(5):645-652. Epub 2017 Aug 22.

Department of Biomedical Sciences, Laboratory of Pathophysiology, Antwerp University, 2610, Wilrijk, Belgium.

Patients with chronic kidney disease (CKD) are at increased risk of fractures. The fracture risk steadily increases along with the progression of renal disease to become several-fold higher in end-stage renal disease (ESRD) patients as compared to age and sex-matched controls. Renal osteodystrophy (ROD) is a heterogeneous group of metabolic bone diseases complicating progressive chronic kidney disease. Read More

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http://dx.doi.org/10.1007/s40620-017-0424-8DOI Listing
October 2017
32 Reads

X-linked hypophosphatemia with enthesopathy.

BMJ Case Rep 2017 Aug 7;2017. Epub 2017 Aug 7.

Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

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http://dx.doi.org/10.1136/bcr-2017-220920DOI Listing
August 2017
1 Read

Where are the vertebras?

Acta Reumatol Port 2017 Jul-Sep;42(3):273-274

Hospital Garcia de Orta, Almada.

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November 2018
15 Reads

A distinctive patchy osteomalacia characterises Phospho1-deficient mice.

J Anat 2017 Aug;231(2):298-308

Roslin Institute and R(D)SVS, The University of Edinburgh, Midlothian, UK.

The phosphatase PHOSPHO1 is involved in the initiation of biomineralisation. Bones in Phospho1 knockout (KO) mice show histological osteomalacia with frequent bowing of long bones and spontaneous fractures: they contain less mineral, with smaller mineral crystals. However, the consequences of Phospho1 ablation on the microscale structure of bone are not yet fully elucidated. Read More

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http://dx.doi.org/10.1111/joa.12628DOI Listing
August 2017
6 Reads

Young Girl With Swollen Wrists and Ankles.

Ann Emerg Med 2017 Aug;70(2):261-264

Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.annemergmed.2017.02.003DOI Listing
August 2017
2 Reads