2,449 results match your criteria Rickets Imaging

Case Report: Children with Severe Nutritional Rickets in the Naga Region in Northwest Myanmar, on the border with India.

Am J Trop Med Hyg 2021 Jun 7. Epub 2021 Jun 7.

1Medical Action Myanmar, Yangon, Myanmar.

Rickets is an often-neglected, painful, and disabling childhood condition of impaired bone mineralization. In this case series we describe a cluster of 29 children with severe, painful bone deformities who live in the very remote region of Nagaland in northwest Myanmar. Children were found to have low 25-hydroxyvitamin D, elevated parathyroid hormone, and elevated alkaline phosphatase levels, consistent with nutritional rickets secondary to vitamin D deficiency, calcium deficiency, or a combination of the two. Read More

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A two-year follow-up of asfotase alfa replacement in a patient with hypophosphatasia: clinical, biochemical, and radiological evaluation.

Arch Endocrinol Metab 2021 May;64(5):623-629

Departamento de Medicina, Disciplina de Endocrinologia, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil,

Hypophosphatasia (HPP) is a rare disease with a high mortality rate in its severe forms. It is caused by mutations within the gene encoding the tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme responsible for bone mineralization. In 2015, the Food and Drug Administration approved the use of asfotase alfa, the first medication showing benefit in the treatment of HPP. Read More

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Metabolic Bone Diseases in the Pediatric Population.

Semin Musculoskelet Radiol 2021 Feb 21;25(1):94-104. Epub 2021 May 21.

Department of Clinical and Experimental Medicine, Foggia University School of Medicine, Foggia, Italy.

Bone plays an important role in regulating mineral balance in response to physiologic needs. In addition, bone is subject to a continuous remodeling process to maintain healthy bone mass and growth. Metabolic bone diseases are a heterogeneous group of diseases caused by abnormalities of bone mass, mineral structure homeostasis, bone turnover, or bone growth. Read More

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February 2021

Hypophosphatemic Osteomalacia in a Young Adult.

Cureus 2021 Mar 4;13(3):e13697. Epub 2021 Mar 4.

Internal Medicine, Hamad Medical Corporation, Doha, QAT.

Tumor-induced osteomalacia (TIO), otherwise known as oncogenic osteomalacia, is a rare paraneoplastic syndrome, characterized by hypophosphatemia due to decreased tubular reabsorption and low or inappropriately normal level of active vitamin D. The syndrome, first recognized by Robert McCance in 1947, is well described in the medical literature. However, the diagnosis can be delayed due to the nonspecific nature of its presentation. Read More

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Comparison of F-FDG PET/CT and Ga-DOTATATE PET/CT in the Targeted Imaging of Culprit Tumors Causing Osteomalacia.

Orthop Surg 2021 May 11;13(3):791-798. Epub 2021 Mar 11.

Department of PET-CT Diagnostic, Tianjin Medical University General Hospital, Tianjin, China.

Objective: To assess and compare the performance of fluorine-18-labeled fluorodeoxyglucose positron emission tomography ( F-FDG-PET/ CT) and gallium-68-labeled tetraazacyclododecanetetraacetic acid-DPhe1-Tyr3-octreotate ( Ga- DOTATATE) PET/CT in the targeted imaging of culprit tumors causing osteomalacia.

Methods: This was a clinical retrospective analysis. We analyzed 13 patients (five men, eight women; mean age, 49 years; range, 19-55 years) with suspicion of tumor-induced osteomalacia (TIO) between March 2017 and October 2019. Read More

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Atraumatic fractures of the femur.

Br J Radiol 2021 May 18;94(1121):20201457. Epub 2021 Mar 18.

Department of Musculoskeletal Radiology, Leeds Teaching Hospitals, Leeds, UK.

Atraumatic fractures of femur, although not as common as traumatic fractures, are frequently encountered in the clinical practice. They present with non-specific symptoms and can be occult on initial imaging making their diagnosis difficult, sometimes resulting in complications. Overlapping terminologies used to describe these fractures may hamper effective communication between the radiologist and the clinician. Read More

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Impact of Early Conventional Treatment on Adult Bone and Joints in a Murine Model of X-Linked Hypophosphatemia.

Front Cell Dev Biol 2020 18;8:591417. Epub 2021 Feb 18.

Université de Paris, Laboratory Orofacial Pathologies, Imaging and Biotherapies URP 2496 and FHU-DDS-Net, Dental School, and Plateforme d'Imagerie du Vivant (PIV), Montrouge, France.

X-linked hypophosphatemia (XLH) is the most common form of genetic rickets. Mainly diagnosed during childhood because of growth retardation and deformities of the lower limbs, the disease affects adults with early enthesopathies and joint structural damage that significantly alter patient quality of life. The conventional treatment, based on phosphorus supplementation and active vitamin D analogs, is commonly administered from early childhood to the end of growth; unfortunately, it does not allow complete recovery from skeletal damage. Read More

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February 2021

Clinical and molecular characterization of Chilean patients with X-linked hypophosphatemia.

Osteoporos Int 2021 Mar 5. Epub 2021 Mar 5.

Endocrinology Department, School of Medicine, Pontificia Universidad Católica de Chile, Av. Diagonal Paraguay 362, Cuarto Piso, Santiago, Chile.

We report the most comprehensive clinical and molecular characterization of XLH patients performed in Chile. We show high prevalence of musculoskeletal burden and pain, associated with significantly impaired physical capacity and quality of life, with many relevant complications presenting more frequently than previously reported in cohorts from developed countries.

Introduction: Our current understanding of the clinical presentation and natural history of X-linked hypophosphatemia (XLH) comes mainly from cohorts from developed countries, with limited data on the clinical and genetic abnormalities of XLH patients in South America. Read More

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Rickets and gross motor delay in a child with atopic dermatitis.

Oxf Med Case Reports 2021 Feb 15;2021(2):omaa143. Epub 2021 Feb 15.

PGY-3, Dayton Children's Hospital, Dayton, OH, USA.

We report a case of a 14-month-old boy with atopic dermatitis (AD) who presented to our hospital with hypocalcemic tetany and gross motor delay. Further laboratory and imaging confirmed the diagnosis of vitamin D deficiency and rickets. He was breastfeeding and on a restricted diet due to presumed multiple food allergies. Read More

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February 2021

Imaging of pediatric bone and growth disorders: Of diagnostic workhorses and new horizons.

Wien Med Wochenschr 2021 Apr 11;171(5-6):102-110. Epub 2021 Feb 11.

Department of Biomedical Imaging and Image-Guided Therapy, Medical University of Vienna, Vienna, Austria.

Children and adolescents with bone and growth disorders require interdisciplinary care from various specialists including pediatric radiologists with a focus on musculoskeletal disorders. This article covers routine topics, differential diagnoses, and selected research imaging in children with osteogenesis imperfecta (OI), X‑linked hypophosphatemic rickets (XLH), achondroplasia, and other bone and growth disorders from the standpoint of a tertiary referral center. Read More

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Medication-Related Osteonecrosis of the Jaw (MRONJ): Are Antiresorptive Drugs the Main Culprits or Only Accomplices? The Triggering Role of Vitamin D Deficiency.

Nutrients 2021 Feb 8;13(2). Epub 2021 Feb 8.

Department of Medicine, Section of Internal Medicine, University of Verona, 37134 Verona, Italy.

Osteonecrosis of the jaw (ONJ) is a severe clinical condition characterized mostly but not exclusively by an area of exposed bone in the mandible and/or maxilla that typically does not heal over a period of 6-8 weeks. The diagnosis is first of all clinical, but an imaging feedback such as Magnetic Resonance is essential to confirm clinical suspicions. In the last few decades, medication-related osteonecrosis of the jaw (MRONJ) has been widely discussed. Read More

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February 2021

Visual Vignette.

Endocr Pract 2020 Jul 24;26(7):799. Epub 2020 Nov 24.

Department of Endocrinology.

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Artificial intelligence research within reach: an object detection model to identify rickets on pediatric wrist radiographs.

Pediatr Radiol 2021 May 5;51(5):782-791. Epub 2021 Jan 5.

Department of Radiology and Imaging Sciences, Children's Healthcare of Atlanta at Egleston, Emory University School of Medicine, 1405 Clifton Rd. NE, Atlanta, GA, 30322-1101, USA.

Background: Artificial intelligence models have been successful in analyzing ordinary photographic images. One type of artificial intelligence model is object detection, where a labeled bounding box is drawn around an area of interest. Object detection can be applied to medical imaging tasks. Read More

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'Bone within bone appearance' in a pathological fracture.

BMJ Case Rep 2020 Dec 21;13(12). Epub 2020 Dec 21.

Orthopaedic Research Group, Coimbatore, Tamil Nadu, India.

A 60-year-old man presented to our hospital with complaints of pain and deformity on his right thigh for the past 2 days following a history of accidental slip and fall. Radiological investigations suggested a pathological type 2 Seinsheimer subtrochanteric fracture of the right femur with a 'bone within bone' appearance, which posed a diagnostic dilemma as this radiological appearance is seen in a spectrum of conditions. Radiographic skeletal survey failed to identify a similar appearance elsewhere in the body. Read More

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December 2020

Fanconi Bickel syndrome: clinical phenotypes and genetics in a cohort of Sudanese children.

Int J Pediatr Endocrinol 2020 Nov 23;2020(1):21. Epub 2020 Nov 23.

Pediatric Endocrinology Unit, Gaafar Ibn Auf children Hospital, Khartoum, Sudan.

Background: Fanconi-Bickel syndrome (FBS) is a rare condition of carbohydrate metabolism, caused by a recessive defect in the facilitative glucose transporter GLUT2 encoded by the SLC2A2 gene and characterized by a wide spectrum of phenotypical features. There is a paucity of reported data on FBS from Sub-Saharan Africa. Here, we describe the clinical, biochemical and genetic characteristics of our patients with FBS from Sudan, a country with a high consanguinity rate. Read More

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November 2020

Convolutional Neural Network-Based Humerus Segmentation and Application to Bone Mineral Density Estimation from Chest X-ray Images of Critical Infants.

Diagnostics (Basel) 2020 Nov 30;10(12). Epub 2020 Nov 30.

Department of Computer Science & Information Engineering, National Cheng Kung University, Tainan 701, Taiwan.

Measuring bone mineral density (BMD) is important for surveying osteopenia in premature infants. However, the clinical availability of dual-energy X-ray absorptiometry (DEXA) for standard BMD measurement is very limited, and it is not a practical technique for critically premature infants. Developing alternative approaches for DEXA might improve clinical care for bone health. Read More

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November 2020

Developmental Delay and Refusal to Walk in an Infant.

Clin Pediatr (Phila) 2021 02 11;60(2):134-138. Epub 2020 Nov 11.

Ochsner Children's Hospital, New Orleans, LA, USA.

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February 2021

Twin girls with hypophosphataemic rickets and papilloedema.

Arch Dis Child Educ Pract Ed 2020 Oct 30. Epub 2020 Oct 30.

Pediatric Department, Institute for Maternal and Child Health IRCCS, Burlo Garofolo of Trieste, Trieste, Italy.

A 7 year-old twin girl with hypophosphataemic rickets was evaluated for a recent onset of mild strabismus.She was a homozygous twin sister with hypophosphataemic rickets diagnosed at the age of 2 years, with a mutation in intron 21 of the PHEX gene, which was also present in her sister.The girls' clinical histories were remarkable for an important lower limb varus that progressively improved after starting phosphate supplementation with a galenical solution (Joulies solution 1 mmol phosphate/ml) and vitamin D 1,25 OH. Read More

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October 2020

Development of Enthesopathies and Joint Structural Damage in a Murine Model of X-Linked Hypophosphatemia.

Front Cell Dev Biol 2020 22;8:854. Epub 2020 Sep 22.

Université de Paris, Laboratory Orofacial Pathologies, Imaging and Biotherapies UR 2496, Dental School, Montrouge, France.

X-linked hypophosphatemia (XLH) is characterized by rickets and osteomalacia, caused by inactivating mutations in the Phosphate-regulating endopeptidase homolog X-linked (PHEX) gene. With aging, adult patients develop paradoxical heterotopic calcifications of tendons and ligaments at their insertion sites (enthesophytes), and joint alterations. Understanding the progression of this structural damage that severely affects patients' quality of life will help to improve the management of XLH. Read More

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September 2020

Pediatric Primary Hyperparathyroidism: Experience in a Tertiary Care Referral Center in a Developing Country Over Three Decades.

World J Surg 2021 Feb 12;45(2):488-495. Epub 2020 Oct 12.

Department of Endocrine Surgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow, 226 014, India.

Background: There is limited experience in managing pediatric primary hyperparathyroidism (PHPT). The aim of this study was to analyze the clinical presentation and outcome of surgery in children with PHPT managed at a tertiary referral center.

Methods: This retrospective study (September 1989-August 2019) consisted of 35 pediatric PHPT patients (< 18 years) who underwent parathyroidectomy. Read More

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February 2021

Type 1 tyrosinemia in Finland: a nationwide study.

Orphanet J Rare Dis 2020 10 12;15(1):281. Epub 2020 Oct 12.

Center for Child Health Research, Tampere University, Tampere, Finland.

Background: Introduction of nitisinone and newborn screening (NBS) have transformed the treatment of type 1 tyrosinemia, but the effects of these changes on the long-term outcomes remain obscure. Also, the predictors for later complications, the significance of drug levels and the normalization of laboratory and imaging findings are poorly known. We investigated these issues in a nationwide study. Read More

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October 2020

Diagnostic efficiency of Ga-DOTANOC PET/CT in patients with suspected tumour-induced osteomalacia.

Eur Radiol 2021 Apr 6;31(4):2414-2421. Epub 2020 Oct 6.

Department of Nuclear Medicine, the First Affiliated Hospital of Sun Yat-sen University, 58# Zhongshan Er Road, Guangzhou, 510080, Guangdong Province, People's Republic of China.

Objectives: Currently, the main challenge in tumour-induced osteomalacia (TIO) is the difficulty in locating culprit tumours for definitive diagnosis and surgical therapy. Herein, we retrospectively evaluate the efficiency of Ga-DOTANOC PET/CT in the localisation and diagnosis of TIO, and compared with F-FDG.

Methods: Twenty-four consecutive patients with hypophosphataemic osteomalacia (HO) and suspicion of TIO who were referred to our centre for Ga-DOTANOC PET/CT scanning were retrospectively reviewed. Read More

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Craniotabes in a newborn.

CMAJ 2020 Oct;192(40):E1163

Department of Pediatrics, Toyama Red Cross Hospital, Toyama, Japan.

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October 2020

Osteoporosis in Patients with Chronic Kidney Diseases: A Systemic Review.

Int J Mol Sci 2020 Sep 18;21(18). Epub 2020 Sep 18.

Department of Obstetrics and Gynecology, Taipei Tzu-Chi Hospital, The Buddhist Tzu-Chi Medical Foundation, Taipei 231, Taiwan.

Chronic kidney disease (CKD) is associated with the development of mineral bone disorder (MBD), osteoporosis, and fragility fractures. Among CKD patients, adynamic bone disease or low bone turnover is the most common type of renal osteodystrophy. The consequences of CKD-MBD include increased fracture risk, greater morbidity, and mortality. Read More

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September 2020

Application of ultrasound-guided biopsy and percutaneous radiofrequency ablation in 2 cases with phosphaturic mesenchymal tumor and literature review.

Clin Hemorheol Microcirc 2021 ;77(1):61-69

Department of Medical Ultrasonics, Ultrasomics Artificial Intelligence X-Lab, Institute of Diagnostic and Interventional Ultrasound, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.

Tumor-induced osteomalacia (TIO) is a vanishingly rare paraneoplastic syndrome which is usually caused by phosphaturic mesenchymal tumors (PMTs). The conventional treatment for PMTs is total resection, and ultrasound-guided radiofrequency ablation (RFA) can also be used for the treatment of PMTs patients, especially for patients in whom complete resection may lead to serious complications. We report two cases with PMT who presented syndrome with progressive musculoskeletal complaints and performed ultrasound-guided biopsy and RFA. Read More

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Diagnostic value of 68Ga-DOTA-TATE PET/CT imaging for tumor- induced osteomalacia.

Ann Palliat Med 2020 Sep 10;9(5):3350-3356. Epub 2020 Sep 10.

Department of Nuclear Medicine, Affiliated Hospital of Southwest Medical University, Luzhou, China; Nuclear Medicine and Molecular Imaging Key Laboratory of Sichuan Province, Luzhou, China.

Background: Tumor-induced osteomalacia (TIO) is often misdiagnosed as hypophosphatemia that is not valued. The aim of this study was to analyze the diagnostic value of 68Ga-DOTA-TATE PET/CT imaging for TIO.

Methods: Clinical data was retrospectively collected for 56 patients with suspected TIO at the Affiliated Hospital of Southwest Medical University between January 2016 and December 2019, where patients were examined by 68Ga-DOTA-TATE PET/CT and 99mTc-HYNIC-TOC SPECT. Read More

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September 2020

Clinical Characteristics and Bone Features of Autosomal Recessive Hypophosphatemic Rickets Type 1 in Three Chinese Families: Report of Five Chinese Cases and Review of the Literature.

Calcif Tissue Int 2020 12 12;107(6):636-648. Epub 2020 Sep 12.

Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China.

Autosomal recessive hypophosphatemic rickets type 1 (ARHR1) was reported to be caused by homozygous mutation of dentin matrix protein 1 (DMP1). To date, very few cases have been reported. Here, we summarized clinical, laboratory and imaging findings of ARHR1 patients in our hospital. Read More

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December 2020

An image analysis protocol for the quantification of interglobular dentine in anthropological tooth sections.

Am J Phys Anthropol 2021 01 11;174(1):144-148. Epub 2020 Sep 11.

Department of Anatomy, University of Otago, Dunedin, New Zealand.

The histological identification of interglobular dentine (IGD) in archeological human remains with macroscopic evidence of rickets has opened a promising new avenue for the investigation of metabolic disease in the past. Recent paleopathological studies have shown that histological analysis of archeological human teeth may allow the identification of periods of vitamin D deficiency occurring within very narrow developmental  windows, yielding new information on the seasonality or even maternal-fetal transmission of this disease. However, currently available techniques for recording IGD rely on subjective scoring systems or visual estimations, potentially leaving them open to inter and intra-observer error and rendering comparisons of datasets difficult. Read More

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January 2021

A case report of severe degenerative lumbar scoliosis associated with windswept lower limb deformity.

BMC Surg 2020 Sep 3;20(1):195. Epub 2020 Sep 3.

Department of Orthopedics Surgery and Orthopedics Research Institute, West China Hospital, Sichuan University, No. 37 GuoXue Road, Chengdu, Sichuan, China.

Background: The windswept lower limb deformity describes valgus deformity in one leg with varus deformity in the other. It is mostly seen in young children with metabolic bone diseases (such as rickets) and may lead to leg length discrepancy (LLD) and Degenerative scoliosis (DS) in older age. To the best of our knowledge, there was no report of the spinal surgery in patient with severe DS associated with windswept deformity. Read More

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September 2020