2,397 results match your criteria Rickets Imaging


Decreased Compressional Sound Velocity Is an Indicator for Compromised Bone Stiffness in X-Linked Hypophosphatemic Rickets (XLH).

Front Endocrinol (Lausanne) 2020 9;11:355. Epub 2020 Jun 9.

Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, BCRT - Berlin Institute of Health Center for Regenerative Therapies, Berlin, Germany.

To assess the diagnostic potential of bidirectional axial transmission (BDAT) ultrasound, and high-resolution peripheral quantitative computed tomography (HR-pQCT) in X-linked hypophosphatemia (XLH, OMIM #307800), a rare genetic disorder of phosphate metabolism caused by mutations in the gene. BDAT bone ultrasound was performed at the non-dominant distal radius (33% relative to distal head) and the central left tibia (50%) in eight XLH patients aged between 4.2 and 20. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fendo.2020.00355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7296046PMC

The Game Is Afoot.

N Engl J Med 2020 06;382(23):2249-2255

From the Departments of Medicine (N.Y., A.L.M., J.L.), Pathology (J.L.H.), and Orthopedic Surgery (C.P.C.), Brigham and Women's Hospital, Boston.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMcps1913599DOI Listing

Alternative causes of ankle pain in a patient with enthesopathy and X-linked hypophosphataemia.

Lancet 2020 05;395(10237):e97

Department of Rheumatology, Princess Alexandra Hospital, Brisbane, QLD, Australia; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S0140-6736(20)30935-1DOI Listing

A Novel Presentation of Metaphyseal Chondrodysplasia, Schmid Type with Factor VII Deficiency.

Cureus 2020 Mar 23;12(3):e7371. Epub 2020 Mar 23.

Pediatrics, Civil Hospital Karachi, Dow University of Health Sciences, Karachi, PAK.

Metaphyseal chondrodysplasia, Schmid type (MDSC) is a rare inherited autosomal disorder with characteristic skeletal deformities striking on radiological imaging, which includes metaphyseal cupping and fraying. Physical examination reveals short stature in early childhood, frontoparietal bossing, rachitic rosary, genu varum and valgum, and coxa vara usually. We believe that the constellation of clinical and radiographic findings of MDSC might look similar to vitamin D resistant rickets; hence, genetic analysis is needed to overcome diagnostic challenges faced by physicians to avoid unnecessary vitamin D supplementation in individuals. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7759/cureus.7371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7176329PMC

Malignant transformation of phosphaturic mesenchymal tumor: a case report and literature review.

Clin Pediatr Endocrinol 2020 16;29(2):69-75. Epub 2020 Apr 16.

Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Phosphaturic mesenchymal tumor, mixed connective tissue variant (PMT-MCT) causes tumor-induced osteomalacia (TIO). Most cases follow a benign clinical course, with rare occurrences of malignant transformation. We report a case of malignant PMT-MCT and review previous malignant cases to identify predictive factors for transformation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1297/cpe.29.69DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7160461PMC

Response to Letter to the Editor: "Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors".

J Endocr Soc 2020 Apr 5;4(4):bvaa014. Epub 2020 Feb 5.

Osteometabolic Disorders Unit, Endocrinology Department, Division of Internal Medicine, Hospital das Clinicas da Universidade de São Paulo HCFMUSP, São Paulo, SP, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jendso/bvaa014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7153747PMC

Usefulness of X-rays in the Differential Diagnosis of Hypophosphataemic Rickets.

Adv Ther 2020 May 31;37(Suppl 2):89-94. Epub 2020 Mar 31.

Jefe de Servicio de Radiología, Hospital Universitario Infantil Niño Jesús, Madrid, Spain.

Rickets and osteomalacia are two related conditions linked by the lack of mineralization of bone tissue due to a disturbance of calcium and phosphate homeostasis. Some of the most characteristic features of rickets are skeletal deformities, fractures, linear and continuous periosteal reaction, and enlargement of the metaphyseal space in an irregular and frayed form. However, these radiological findings are not exclusive to these diseases, but may also originate in children who were born prematurely or in those who have suffered physical abuse or an accident. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12325-019-01183-2DOI Listing

N-acetylcysteine (NAC), an anti-oxidant, does not improve bone mechanical properties in a rat model of progressive chronic kidney disease-mineral bone disorder.

PLoS One 2020 23;15(3):e0230379. Epub 2020 Mar 23.

Department of Anatomy, Cell Biology and Physiology, Indiana University School of Medicine, Indianapolis, IN, United States of America.

Individuals with chronic kidney disease have elevated levels of oxidative stress and are at a significantly higher risk of skeletal fracture. Advanced glycation end products (AGEs), which accumulate in bone and compromise mechanical properties, are known to be driven in part by oxidative stress. The goal of this study was to study effects of N-acetylcysteine (NAC) on reducing oxidative stress and improving various bone parameters, most specifically mechanical properties, in an animal model of progressive CKD. Read More

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0230379PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7089527PMC

Hip Morphology in Mucolipidosis Type II.

J Clin Med 2020 Mar 8;9(3). Epub 2020 Mar 8.

International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.

Mucolipidosis type II (MLII) is a rare lysosomal storage disorder caused by defective trafficking of lysosomal enzymes. Severe skeletal manifestations are a hallmark of the disease including hip dysplasia. This study aims to describe hip morphology and the natural course of hip pathologies in MLII by systematic evaluation of plain radiographs, ultrasounds and magnetic resonance imaging (MRI). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/jcm9030728DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141371PMC

Novel heterozygous GATA3 and SLC34A3 variants in a 6-year-old boy with Barakat syndrome and hypercalciuria.

Mol Genet Genomic Med 2020 May 10;8(5):e1222. Epub 2020 Mar 10.

Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, Shanghai, China.

Background: Barakat syndrome is an autosomal dominant disorder characterized by the triad of hypoparathyroidism, sensorineural deafness, and renal anomalies and is caused by mutations in GATA3 gene. SLC34A3 is the cause gene of hypophosphatemic rickets with hypercalciuria, and heterozygous carriers may have milder clinical symptoms. The aim of this study was to identify the underlying genetic cause of a patient who initially presented with renal failure, hypercalciuria, kidney stone, and bilateral sensorineural deafness. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.1222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216807PMC

A Missed Diagnosis of Bilateral Simultaneous Spontaneous Intracapsular Neck of Femur Fractures in a Rheumatoid Arthritis Patient.

Case Rep Orthop 2019 27;2019:4783573. Epub 2019 Dec 27.

Queen Elizabeth Hospital, Gateshead, UK.

Bilateral spontaneous simultaneous fractures of the neck of femurs are extremely rare, and only a few cases have been reported in literature. They are usually following high-energy trauma or may be due to an underlying pathological process such as frailty, osteomalacia, rickets, and chronic renal disease. They can also occur following epilepsy and electric shock. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2019/4783573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6949671PMC
December 2019

[Hypophosphatemic osteomalacia caused by urinary mesenchymal tumor: A case report].

Beijing Da Xue Xue Bao Yi Xue Ban 2019 Dec;51(6):1169-1172

Department of Rheumatology, Peking University Third Hospital, Beijing 100191, China.

This case report concerns a 34-year-old woman who had been diagnosed with ankylosing spondylitis (AS), fibromyalgia syndrome (FMS), osteoarthritis (OA), lumbar disc herniation and the like in different hospitals during the past 18 months. She had progressive osteoarthrosis, significant muscle weakness, gait abnormalities in weightbearing areas, however without typical inflammatory low back pain, while the treatment with non-steroidal anti-inflammatory drugs (NSAIDs) was invalid, with normal inflammation index, negative results for rheumatic factor (RF) and human leukocyte antigen (HLA)-B27, and normal erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP). She had hyphosphatemia, normal serum calcium, 1,25-(OH)2-D3 reduction, elevated alkaline phosphatase (ALP) and normal parathyroid hormone (PTH), however with elevated urinary phosphorus. Read More

View Article

Download full-text PDF

Source
December 2019

Tumour-induced osteomalacia due to an intra-abdominal mesenchymal tumour.

BMJ Case Rep 2019 Dec 4;12(12). Epub 2019 Dec 4.

Endocrinology, Seth GS Medical College and KEM Hospital, Mumbai, India.

A 50-year-man presented with debilitating lower-limb proximal muscle weakness and hip pain since 3 years. Investigations (serum calcium (8.9 mg/dL), serum phosphorus (1. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2019-231728DOI Listing
December 2019

Radiographic evaluation of the forelimbs and hind limbs of marmosets (Callithrix spp.).

J Med Primatol 2020 Apr 15;49(2):71-78. Epub 2019 Nov 15.

Universidade Federal Rural da Amazônia (UFRA), Belém, Brazil.

Background: The maintenance of marmosets in captivity may trigger various disorders. The objective of this study was to provide a radiographic evaluation of the forelimbs and hind limbs of marmosets rescued from illegal wildlife trade and maintained in captivity.

Methods: Fourteen marmosets were studied. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jmp.12451DOI Listing

Pediatric Parathyroid Carcinoma: A Case Report and Review of the Literature.

J Endocr Soc 2019 Dec 16;3(12):2224-2235. Epub 2019 Sep 16.

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

Primary hyperparathyroidism (PHPT) is a rare endocrine disease in the pediatric population. Sporadic parathyroid adenomas remain the most common cause of pediatric PHPT. Parathyroid carcinoma (PC) is an extremely rare cause of pediatric PHPT. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/js.2019-00081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6839529PMC
December 2019

Thoracic Deformity and Acro-Osteolysis in Severe Renal Osteodystrophy.

Mayo Clin Proc 2019 11;94(11):2358-2359

MedStar Health, Washington, DC.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mayocp.2019.08.004DOI Listing
November 2019

Imaging of Thoracic Wall Abnormalities.

Korean J Radiol 2019 10;20(10):1441-1453

Department of Radiology, Jewish General Hospital, Montreal, Canada.

Identification of certain abnormalities of the chest wall can be extremely helpful in correctly diagnosing a number of syndromic conditions and systemic diseases. Additionally, chest wall abnormalities may sometimes constitute diagnoses by themselves. In the present pictorial essay, we review a number of such conditions and provide illustrative cases that were retrospectively identified from our clinical imaging database. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3348/kjr.2019.0181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6757005PMC
October 2019
3 Reads
1.807 Impact Factor

Inhibition of tissue-nonspecific alkaline phosphatase protects against medial arterial calcification and improves survival probability in the CKD-MBD mouse model.

J Pathol 2020 01 23;250(1):30-41. Epub 2019 Nov 23.

Department of Nephrology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan.

Medial arterial calcification (MAC) is a major complication of chronic kidney disease (CKD) and an indicator of poor prognosis. Aortic overexpression of tissue-nonspecific alkaline phosphatase (TNAP) accelerates MAC formation. The present study aimed to assess whether a TNAP inhibitor, SBI-425, protects against MAC and improves survival probability in a CKD-mineral and bone disorder (MBD) mouse model. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/path.5346DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7238767PMC
January 2020
1 Read

Case 2: New-Onset Seizure in a 5-year-old Boy with Autism Spectrum Disorder.

Pediatr Rev 2019 Sep;40(9):485-487

Department of Pediatrics, Rutgers-Robert Wood Johnson Medical School, Brunswick, NJ.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/pir.2017-0217DOI Listing
September 2019

Osteomalacia secondary to delayed diagnosis of a maxillary mesenchymal tumour.

Eur Ann Otorhinolaryngol Head Neck Dis 2019 Sep 21;136(4):335-336. Epub 2019 Aug 21.

HUS, service d'ORL et de chirurgie cervico-faciale, hôpital de Hautepierre, avenue Molière, 67000 Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.anorl.2019.02.007DOI Listing
September 2019

Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome.

Am J Med Genet A 2019 10 24;179(10):2112-2118. Epub 2019 Aug 24.

Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat-Gan, Israel.

Generalized arterial calcifications of infancy (GACI) is caused by mutations in ENPP1. Other ENPP1-related phenotypes include pseudoxanthoma elasticum, hypophosphatemic rickets, and Cole disease. We studied four children from two Bedouin consanguineous families who presented with severe clinical phenotype including thrombocytopenia, hypoglycemia, hepatic, and neurologic manifestations. Read More

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61334
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.61334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6886884PMC
October 2019
7 Reads

Metaphyseal dysplasia, Spahr type: a mimicker of rickets.

BMJ Case Rep 2019 Aug 13;12(8). Epub 2019 Aug 13.

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

Metaphyseal dysplasias are a heterogeneous group of skeletal dysplasias characterised by metaphyseal irregularities. Due to the presence of metaphyseal changes accompanied with bowing deformity of lower limb, they are likely to be mistaken for rickets. We present a case of a 7-year-old boy, finally diagnosed with metaphyseal dysplasia, Spahr type (MDST) (OMIM 250400) after his exome sequencing revealed novel variations in the gene (OMIM 600108). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2019-230257DOI Listing

Metastatic prostate cancer presenting as tumour-induced osteomalacia.

BMJ Case Rep 2019 Jul 16;12(7). Epub 2019 Jul 16.

Renal, Electrolyte, and Hypertension Division, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Tumour-induced osteomalacia (TIO), or oncogenic osteomalacia, is a paraneoplastic syndrome marked by hypophosphataemia, renal phosphate wasting, bone pain, weakness, and fractures. The syndrome has been reported with both benign and malignant tumours including parotid gland basal cell tumours, thyroid carcinomas, colon adenocarcinomas, and prostate cancer. Often, the syndrome is marked by an insidious course during which patients present with generalised bony pain and weakness, which do not resolve until the underlying tumour is identified and treated. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2019-229434DOI Listing
July 2019
5 Reads

The synergy between radiographic and macroscopic observation of skeletal lesions on dry bone.

Int J Legal Med 2019 Sep 12;133(5):1611-1628. Epub 2019 Jul 12.

Laboratorio Di Antropologia E Odontologia Forense (LABANOF), Sezione Di Medicina Legale, Dipartimento Di Scienze Biomediche per La Salute, Università Degli Studi Di Milano, Via Mangiagalli 37, 20133, Milan, Italy.

The diagnosis of bone lesions is a fundamental part of the study of skeletal remains, both in the archeological and forensic context. On the one side, the literature proved the relevance of radiography for the detection of bone lesions; on the other side, the careful macroscopic observation of the morphology of bone lesions is often underestimated. For this study, we examined and performed plain radiography on 14 skeletons of the CAL Milano Cemetery Skeletal Collection diagnosed with rheumatoid arthritis, diabetes, multiple myeloma, metastatic cancer, and osteomalacia to compare the macroscopic morphology and radiographic visualization of bone lesions. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00414-019-02122-0DOI Listing
September 2019
11 Reads

Osteomalacia in subtropical Auckland.

BMJ Case Rep 2019 Jul 8;12(7). Epub 2019 Jul 8.

Bone and Joint Research Group, Department of Medicine, University of Auckland, Auckland, New Zealand.

A 56-year-old man was referred with left-sided hip pain. MRI scans demonstrated an undisplaced stress fracture in the femoral neck and subchondral oedema within the femoral head. Bone densitometry showed T-scores of -2. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2019-229657DOI Listing
July 2019
2 Reads

Phosphaturic Mesenchymal Tumor of Soft Tissue of the Foot: Report of a Case With Review of the Literature.

Adv Anat Pathol 2019 Sep;26(5):320-328

Endocrinology Unit, "Casa Sollievo della Sofferenza" IRCCS-Hospital, San Giovanni Rotondo, Italy.

Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm that ectopically secretes fibroblast growth factor 23, a bone cell-derived protein that regulates phosphate homeostasis. The overproduction of fibroblast growth factor 23 causes a paraneoplastic syndrome characterized by hyperphosphaturia, hypophosphatemia, hypovitaminosis D, and vitamin D refractory rickets/osteomalacia, effects that disappear with tumor removal. The PMT may occur in several anatomic regions, mainly in the limbs, usually involving both soft tissue and bone. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/PAP.0000000000000240DOI Listing
September 2019
6 Reads

Rachitic change and vitamin D status in young children with fractures.

Skeletal Radiol 2020 Jan 26;49(1):85-91. Epub 2019 Jun 26.

Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Objective: To examine the association between rachitic changes and vitamin D levels in children less than 2 years old with fractures.

Methods: Children less than 2 years old who were admitted to a large children's hospital for a fracture and underwent a skeletal survey were included. Two pediatric radiologists blinded to the children's vitamin D levels independently reviewed the skeletal surveys for the following rachitic findings: demineralization, widened sutures, rachitic rosary, Looser zones, and metaphyseal changes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00256-019-03261-6DOI Listing
January 2020
3 Reads

Image Diagnosis: Disappearing Digits: Metabolic Bone Disease in End-Stage Renal Disease.

Perm J 2019 17;23. Epub 2019 May 17.

Department of Internal Medicine, Montefiore Hospital and Medical Center, Bronx, NY.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7812/TPP/18-177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550319PMC

Nutritional hypophosphatemic rickets secondary to Neocate® use.

Osteoporos Int 2019 Sep 29;30(9):1887-1891. Epub 2019 May 29.

Center For Endocrinology, Diabetes and Metabolism, Division of Pediatrics, Children's Hospital Los Angeles (CHLA), 4650 Sunset Blvd, # 61, Los Angeles, CA, 90027, USA.

Elemental formula is commonly used in children with feeding intolerance. We describe two, medically complex and feeding tube dependent, patients exclusively fed with Neocate® who subsequently developed hypophosphatemic rickets. Both patients had gross motor decline and pain with physical touch. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00198-019-04836-8DOI Listing
September 2019
18 Reads

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.

Nat Rev Nephrol 2019 07;15(7):435-455

APHP, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, and Filière OSCAR, Paris, France.

X-linked hypophosphataemia (XLH) is the most common cause of inherited phosphate wasting and is associated with severe complications such as rickets, lower limb deformities, pain, poor mineralization of the teeth and disproportionate short stature in children as well as hyperparathyroidism, osteomalacia, enthesopathies, osteoarthritis and pseudofractures in adults. The characteristics and severity of XLH vary between patients. Because of its rarity, the diagnosis and specific treatment of XLH are frequently delayed, which has a detrimental effect on patient outcomes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41581-019-0152-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7136170PMC
July 2019
14 Reads

Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors.

J Endocr Soc 2019 May 25;3(5):1053-1061. Epub 2019 Mar 25.

Department of Internal Medicine, Division of Endocrinology, Osteometabolic Disorders Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.

Context: Nephrocalcinosis (NC) and nephrolithiasis (NL) are described in hypophosphatemic rickets, but data regarding their prevalence rates and the presence of metabolic risk factors in X-linked hypophosphatemic rickets (XLH) are scarce.

Objective: To determine the prevalence rates of NC and NL and their risk factors in patients with XLH with confirmed mutations.

Methods: Renal ultrasonography (US) and CT were performed in 16 children and 23 adults. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/js.2018-00338DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497922PMC
May 2019
9 Reads

High FGF23 levels are associated with impaired trabecular bone microarchitecture in patients with osteoporosis.

Osteoporos Int 2019 Aug 1;30(8):1655-1662. Epub 2019 May 1.

Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Lottestr. 59, 22529, Hamburg, Germany.

This cross-sectional study examined the associations between c-terminal FGF23 levels, laboratory markers of bone metabolism and bone microarchitecture in 82 patients with osteoporosis. Higher FGF23 levels were associated with impaired trabecular but not cortical bone microarchitecture, and this was confirmed after adjusting for confounding variables such as age or BMI.

Introduction: Fibroblast growth factor 23 (FGF23) is an endocrine hormone-regulating phosphate and vitamin D metabolism. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00198-019-04996-7DOI Listing
August 2019
2 Reads

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

View Article

Download full-text PDF

Source
https://jmedicalcasereports.biomedcentral.com/articles/10.11
Publisher Site
http://dx.doi.org/10.1186/s13256-019-2045-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6480864PMC
April 2019
19 Reads

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jor.2019.02.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6441721PMC
March 2019
18 Reads

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

View Article

Download full-text PDF

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

Micro-CT assessment of dental mineralization defects indicative of vitamin D deficiency in two 17th-19th century Dutch communities.

Am J Phys Anthropol 2019 05 18;169(1):122-131. Epub 2019 Mar 18.

Department of Anthropology, Western University, London, Ontario, Canada.

Objectives: This study investigates vitamin D deficiency patterns in individuals from birth to the beginning of adolescence. Microscopic computed tomography (micro-CT) evaluation of interglobular dentine (IGD) in teeth provides information on the age of disease onset and the number of deficient periods per individual, which will increase our understanding of factors influencing vitamin D deficiency prevalence, including sociocultural practices and latitude.

Materials And Methods: Beemster and Hattem, two Dutch 17th-19th century communities, yielded relatively high prevalences of rickets (15-24%) and residual rickets (15-24%). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajpa.23819DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6593783PMC
May 2019
3 Reads

Varied presentation of sinonasal phosphaturic mesenchymal tumour: report of a case series with follow-up.

Eur Arch Otorhinolaryngol 2019 Jun 16;276(6):1677-1684. Epub 2019 Mar 16.

Department of Pathology, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.

Purpose: Phosphaturic mesenchymal tumour (PMT) of the paranasal sinuses is a rare tumour that is associated with oncogenous osteomalacia causing predominant musculoskeletal symptoms. We present a series of eight patients diagnosed to have PMT of the paranasal sinuses with varied presentation and highlight the appropriate evaluation required to arrive at the diagnosis.

Methods: Retrospective review of eight patients diagnosed to have PMT-causing tumour-induced osteomalacia with follow-up data. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00405-019-05341-8DOI Listing
June 2019
8 Reads

Review of paraneoplastic syndromes in children.

Pediatr Radiol 2019 04 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

View Article

Download full-text PDF

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

No vascular calcification on cardiac computed tomography spanning asfotase alfa treatment for an elderly woman with hypophosphatasia.

Bone 2019 05 28;122:231-236. Epub 2019 Feb 28.

Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:

Hypophosphatasia (HPP) is the inborn-error-of-metabolism characterized enzymatically by insufficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP) and caused by either mono- or bi-allelic loss-of-function mutation(s) of the gene ALPL that encodes this cell surface phosphomonoester phosphohydrolase. In HPP, the natural substrates of TNSALP accumulate extracellularly and include inorganic pyrophosphate (PPi), a potent inhibitor of biomineralization. This PPi excess leads to rickets or osteomalacia in all but the most mild "odonto" form of the disease. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2019.02.025DOI Listing
May 2019
8 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

View Article

Download full-text PDF

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

Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score.

Bone 2019 05 14;122:76-81. Epub 2019 Feb 14.

Yale University School of Medicine, New Haven, CT, USA.

The Rickets Severity Score (RSS) was used to evaluate X-linked hypophosphatemic rickets (XLH), a genetic disorder mediated by increased circulating FGF23. The reliability of the RSS was assessed using data from a randomized, phase 2 clinical trial that evaluated the effects of burosumab, a fully human anti-FGF23 monoclonal antibody, in 52 children with XLH ages 5 to 12 years. Bilateral knee and wrist radiographs were obtained at baseline, week 40, and week 64. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S87563282193005
Publisher Site
http://dx.doi.org/10.1016/j.bone.2019.02.010DOI Listing
May 2019
4 Reads

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

J Steroid Biochem Mol Biol 2019 04 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

View Article

Download full-text PDF

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

Children With Vitamin D Deficiency: Is A Wrist X-Ray Necessary?

Arch Iran Med 2018 12 1;21(12):589-594. Epub 2018 Dec 1.

Non-Communicable Pediatric Diseases Research Center, Health Research Institute, Babol University of Medical Sciences, Babol, IR Iran.

Background: Rickets is failure in mineralization of growing bone and cartilage due to extreme vitamin D deficiency (VDD). The study aimed to identify rickets among vitamin D deficient children and determine any relationship between clinical findings and paraclinical evidence.

Methods: This study was conducted in two stages. Read More

View Article

Download full-text PDF

Source
December 2018
9 Reads
1.108 Impact Factor

[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

View Article

Download full-text PDF

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

Osteomalacia and looser zones.

QJM 2019 Jun;112(6):455

Division of Endocrinology, Department of Medicine, Stellenbosch University and Tygerberg Academic Hospital, Cape Town, South Africa.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/qjmed/hcy293DOI Listing
June 2019
1 Read

Periarticular calcification mimicking inflammatory polyarthritis in chronic kidney disease.

Saudi J Kidney Dis Transpl 2018 Nov-Dec;29(6):1506-1510

Department of Rheumatology, School of Clinical Medicine, University of KwaZulu-Natal and Inkosi Albert Luthuli Central Hospital, Durban, South Africa.

Periarticular calcification is a frequent radiographic manifestation in chronic kidney disease (CKD). However, clinical presentation as inflammatory periarthritis, tenosynovitis, and bursitis is unusual. A 34-year-old man with CKD on dialysis for three years presented with painful swollen joints. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/1319-2442.248309DOI Listing
October 2019
7 Reads

The rachitic tooth: The use of radiographs as a screening technique.

Int J Paleopathol 2018 12 7;23:32-42. Epub 2017 Nov 7.

Department of Anthropology, McMaster University, Chester New Hall Rm. 517, 1280 Main Street West, Hamilton, Ontario L8S 4L9, Canada.

This study investigates morphological changes in pulp chambers of living and archaeological individuals with past vitamin D deficiency. Living individuals (n=29), four with detailed medical and dental records and three groups of archaeological individuals (n=25) were radiographed; selected individuals were further evaluated histologically for the presence of incremental interglobular dentin (IIGD), indicative of deficiency (28 living; 17 archaeological). Measurements of pulp horns/chambers from radiographs were conducted to quantify morphological observations. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijpp.2017.10.001DOI Listing
December 2018
6 Reads