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Pediatric Nephrology (Berlin, Germany) Sep 2022Rickets is a disease of the growing child arising from alterations in calcium and phosphate homeostasis resulting in impaired apoptosis of hypertrophic chondrocytes in... (Review)
Review
Rickets is a disease of the growing child arising from alterations in calcium and phosphate homeostasis resulting in impaired apoptosis of hypertrophic chondrocytes in the growth plate. Its symptoms depend on the patients' age, duration of disease, and underlying disorder. Common features include thickened wrists and ankles due to widened metaphyses, growth failure, bone pain, muscle weakness, waddling gait, and leg bowing. Affected infants often show delayed closure of the fontanelles, frontal bossing, and craniotabes. The diagnosis of rickets is based on the presence of these typical clinical symptoms and radiological findings on X-rays of the wrist or knee, showing metaphyseal fraying and widening of growth plates, in conjunction with elevated serum levels of alkaline phosphatase. Nutritional rickets due to vitamin D deficiency and/or dietary calcium deficiency is the most common cause of rickets. Currently, more than 20 acquired or hereditary causes of rickets are known. The latter are due to mutations in genes involved in vitamin D metabolism or action, renal phosphate reabsorption, or synthesis, or degradation of the phosphaturic hormone fibroblast growth factor 23 (FGF23). There is a substantial overlap in the clinical features between the various entities, requiring a thorough workup using biochemical analyses and, if necessary, genetic tests. Part I of this review focuses on the etiology, pathophysiology and clinical findings of rickets followed by the presentation of a diagnostic approach for correct diagnosis. Part II focuses on the management of rickets, including new therapeutic approaches based on recent clinical practice guidelines.
Topics: Alkaline Phosphatase; Child; Fibroblast Growth Factors; Humans; Infant; Phosphates; Rickets; Vitamin D Deficiency
PubMed: 34910242
DOI: 10.1007/s00467-021-05328-w -
Journal of Children's Orthopaedics Aug 2019In 1959, Maroteaux and Lamy initially designated pseudoachondroplasia as a distinct dysplasia different from achondroplasia the most common form of skeletal dysplasia....
PURPOSE
In 1959, Maroteaux and Lamy initially designated pseudoachondroplasia as a distinct dysplasia different from achondroplasia the most common form of skeletal dysplasia. Pseudoachondroplasia is caused by a mutation in the collagen oligomeric matrix protein gene (COMP) gene on chromosome 19p13.1-p12 encoding the COMP. The COMP gene mutations result in rendering the articular and growth plate cartilages incapable of withstanding routine biomechanical loads with resultant deformity of the joints. The purpose of the study was to characterize the typical orthopaedic findings in pseudoachondroplasia.
METHODS
The charts and radiographs of 141 patients with pseudoachondroplasia were analyzed. This cohort, to our knowledge, represents the largest group of patients describing the typical orthopaedic manifestations of pseudoachondroplasia.
RESULTS
Patients with pseudoachondroplasia have normal craniofacial appearance with normal intelligence. Short stature is not present at birth and generally appears by two to four years of age. The condition is a form of spondyloepiphyseal dysplasia and the long bones are characterized by dysplastic changes in the epiphysis, metaphysis and vertebral bodies. Radiographically the long bones have altered the appearance and structure of the epiphyses with small irregularly formed or fragmented epiphyses or flattening. The metaphyseal regions of the long bones show flaring, widening or 'trumpeting'. The cervical (89%) and thoracic and lumbar vertebrae show either platyspondyly, ovoid, 'cod-fish' deformity or anterior 'beaking'. Kyphosis (28%), scoliosis (58%) and lumbar lordosis (100%) are commonly seen. The femoral head and acetabulum are severely dysplastic (100%). The knees show either genu valgum (22%), genu varum (56%) or 'windswept' deformity (22%).
CONCLUSION
Most commonly these distortions of the appendicular and the axial skeleton lead to premature arthritis particularly of the hips and often the knees not uncommonly in the 20- to 30-year-old age group.
LEVEL OF EVIDENCE
III.
PubMed: 31489048
DOI: 10.1302/1863-2548.13.190066 -
Ulusal Travma Ve Acil Cerrahi Dergisi =... Aug 2022Management of unstable tibial fractures (UTF) can be challenging due to widening of the proximal and distal metaphyseal zone, soft tissue problems, and poor vascularity....
BACKGROUND
Management of unstable tibial fractures (UTF) can be challenging due to widening of the proximal and distal metaphyseal zone, soft tissue problems, and poor vascularity. We aimed to compare the effect of novel tibial orthopedic reduction support (TORS) frame constructed by re-used tubular external fixator systems and manual traction with regard to the quality of re-duction, and fracture healing.
METHODS
A total of 65 patients who were admitted with UTF and underwent intramedullary nailing were assessed; 43 patients un-derwent manual traction technique, and 22 patients underwent TORS technique. The sagittal and coronal plane angulations were eval-uated in initial postoperative radiographs, and radiologic union scores for tibial fractures (RUST) were compared at follow-up X-rays.
RESULTS
The mean age of patients was 43.49±19.09 years in the manual-traction group and 43.41±16.8 years in the TORS group. The mean coronal plane angulation was 1.84±3.16 in the manual traction group and 1.86±4.21 in the TORS group. The mean sagittal plane angulation was 1.19±1.93 in manual traction group and 0.32±0.65 in the TORS group. The number of coronal and sagittal plane angulations >5° was higher in manual traction group than TORS group. The mean RUST was significantly higher in the TORS group than in the manual traction group at 6th, 9th, and 12th-month controls. The union rates were also higher in the TORS group at 9th and 12th-month controls.
CONCLUSION
TORS frame is a simple and cheap technique and should be considered as reduction support in the management of UTF by intramedullary nailing.
Topics: Adult; Bone Nails; Fracture Fixation, Intramedullary; Fracture Healing; Humans; Middle Aged; Retrospective Studies; Tibial Fractures; Treatment Outcome; Young Adult
PubMed: 35920423
DOI: 10.14744/tjtes.2021.47225 -
Acta Ortopedica Brasileira 2022Many experimental models exist to better understand the necrosis of the femoral head etiology, both in terms of the species variety in which necrosis is induced and in...
UNLABELLED
Many experimental models exist to better understand the necrosis of the femoral head etiology, both in terms of the species variety in which necrosis is induced and in the operative techniques used for treatment.
OBJECTIVE
This study has two main objectives, the first is to review the literature concerning experimental models of avascular necrosis of the growing femoral head, the second, to demonstrate the experimental pig model's reproducibility using a pilot study.
METHODS
This was a bibliographic review to describe the attempts over time to find the best species and technique for induction that would reproduce ischemic necrosis of the growing femoral head in humans. Simultaneously, a pilot study was performed to verify the replication of induction in pigs, the species that has more similarities with the human hip. The pilot's methodological analysis consists of conventional radiology and verification of possible anatomical, pathological changes.
RESULTS
In imaging exams; lateral sub-dislocation of the femur head and triangular appearance of the head were observed, characterizing its flattening; in macroscopic examination, the femoral head flattening with femoral neck widening and shortening was identified; in histology, the proliferation of articular cartilage with the presence of vascular granulation regenerative tissue, with osteoclasts and fibrocartilaginous tissue in the metaphyseal femoral neck region was identified.
CONCLUSION
The experimental pig model can be used as a valuable tool for the reproducibility of anatomical, pathological changes in ischemic necrosis of the growing femoral head. The model is reproducible and feasible and can be beneficial for future studies on the anatomical pathology of necrosis of the growing femoral head. .
PubMed: 35719181
DOI: 10.1590/1413-785220223002247996 -
BDJ Open Sep 2022Pyle Disease (PD), or familial metaphyseal dysplasia [OMIM 265900], is a rare autosomal recessive condition leading to widened metaphyses of long bones and cortical bone...
INTRODUCTION
Pyle Disease (PD), or familial metaphyseal dysplasia [OMIM 265900], is a rare autosomal recessive condition leading to widened metaphyses of long bones and cortical bone thinning and genu valgum. We detail the oro-dental and molecular findings in a South African patient with PD.
METHODS
The patient underwent clinical, radiographic and molecular examinations. An exfoliated tooth was analysed using scanning electron microscopy and was compared to a control tooth.
RESULTS
The patient presented with marked Erlenmeyer-flask deformity (EFD) of the long bones and several Wormian bones. His dental development was delayed by approximately three years. The permanent molars were mesotaurodontic. The bones, including the jaws and cervical vertebrae, showed osteoporotic changes. The lamina dura was absent, and the neck of the condyle lacked normal constrictions. Ionic component analysis of the primary incisors found an absence of magnesium. Sanger sequencing revealed a novel putative pathogenic variant in intron 5 of SFRP4 (c.855+4delAGTA) in a homozygous state.
CONCLUSION
This study has reported for the first time the implication of a mutation in the SFRP4 gene in an African patient presenting with PD and highlights the need for dental practitioners to be made aware of the features and management implications of PD.
PubMed: 36138002
DOI: 10.1038/s41405-022-00120-w -
Journal of Veterinary Diagnostic... Sep 2021Rickets is a metabolic bone disease associated with failure of endochondral ossification and impaired osteoid mineralization in growing animals. As a consequence,... (Review)
Review
Rickets is a metabolic bone disease associated with failure of endochondral ossification and impaired osteoid mineralization in growing animals. As a consequence, affected individuals can develop gross and microscopic bone malformations. The most common causes of rickets in domestic species include vitamin D and phosphorus deficiency. Rickets has been described in multiple species; however, comprehensive postmortem characterizations with confirmatory histopathology in equids have not been published. A 6-mo-old, Thoroughbred-cross foal was diagnosed with rickets based on gross autopsy findings and microscopic examination of the ribs and long bones. Grossly, all costochondral junctions of the ribs were enlarged with a "rachitic rosary" appearance, and there were multiple fracture calluses in the rib bodies. Epiphyses and metaphyses of the long bones appeared widened on sagittal section, and their physes were irregularly thickened. Histologically, there were poorly organized columns of hypertrophic chondrocytes within the physes of affected bones, islands of chondrocytes embedded within the primary and secondary spongiosa, and faintly eosinophilic seams of poorly mineralized osteoid within the bone trabeculae. Areas of focally increased osteoclastic activity were observed in some of the sections, perhaps pointing to a more complex metabolic bone disease in a growing animal. Low serum concentrations of calcium and 25-hydroxyvitamin D were detected in an antemortem sample. The pathogenesis of these imbalances was not definitively established, but lack of sunlight exposure, low concentration of vitamin D precursors in the diet (perhaps secondary to malnutrition), or both, were suspected; a genetic basis cannot be ruled out.
Topics: Animals; Bone and Bones; Calcium; Horse Diseases; Horses; Rickets
PubMed: 34160312
DOI: 10.1177/10406387211025232 -
Indian Journal of Orthopaedics Jul 2021Depressed lateral tibial plateau fractures with a large central or posterior fragment can be seen in isolation or association with complex proximal tibia fractures....
Depressed lateral tibial plateau fractures with a large central or posterior fragment can be seen in isolation or association with complex proximal tibia fractures. Conventionally elevation of the large depressed fragment is done by bone tamp through a medial metaphyseal window in isolated fractures, or the fractured window in associated complex fracture scenarios. Though various instruments have been devised for this purpose, reaching the posterior aspect of lateral condyle through the medial metaphyseal window is not always easy, considering the difficulty in aiming and trajectory. Excessive maneuvering can result in the widening of the medial metaphyseal window, leaves a large metaphyseal void, intraarticular penetration of elevating device, and comminution of the depressed fragment. Described herein is an alternate percutaneous technique for effective reduction of selected lateral tibial plateau depression fractures using Steinmann pin. Twenty- one patients with at least 1-year follow-up with successful outcomes have benefitted from this reduction technical tip thus far.
PubMed: 34306563
DOI: 10.1007/s43465-021-00391-9 -
Journal of Veterinary Internal Medicine 2023Rickets is a disorder of bone development and can be the result of either dietary or genetic causes. Here, related pugs from 2 litters were included. Three pugs had...
Rickets is a disorder of bone development and can be the result of either dietary or genetic causes. Here, related pugs from 2 litters were included. Three pugs had clinical signs including, lameness, bone deformities, and dyspnea. One other pug was found dead. Radiographs of 2 affected pugs, 5 and 6 months old, showed generalized widening, and irregular margination of the physes of both the appendicular and the axial skeleton with generalized decrease in bone opacity and bulbous swelling of the costochondral junctions. Two pugs had low serum calcium and 1,25 (OH) D concentrations. Test results further indicated secondary hyperparathyroidism with adequate concentrations of 25-hydroxyvitamin D. Necropsy revealed tongue-like projections of cartilage extending into the metaphysis consistent with rickets, loss of metaphyseal mineralization and lung pathology. Vitamin D-dependent rickets was diagnosed. A truncating mutation in the 1α-hydroxylase gene (CYP27B1) was identified by genome sequence analysis of the pugs with VDDR type 1A. Vitamin D-dependent rickets type 1A can occur in young pugs, and if left untreated is a life-threatening condition. Early medical intervention can reverse clinical signs and should be instituted as soon as possible.
Topics: Animals; 25-Hydroxyvitamin D3 1-alpha-Hydroxylase; Rickets; Vitamin D; Mutation; Diet
PubMed: 37293695
DOI: 10.1111/jvim.16791