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Journal of Clinical Orthopaedics and... Mar 2024Proximal tibia depression fracture often occur isolated or in conjunction with complex fracture presentations and elevation of such depression is required to retard...
Proximal tibia depression fracture often occur isolated or in conjunction with complex fracture presentations and elevation of such depression is required to retard arthritis in long term. Conventional open reduction by sub meniscal approach has many percutaneous alternatives from arthroscopy assisted reduction to balloon tibioplasty. Few authors even reported usage of PCL jig and percutaneous pins to elevate, while the primary author has previously described an instrument to elevate the depressed fragment percutaneously. With the shortcomings of the same instrument, authors have designed modifications in the same to address anterior and posterior extensions of depression without widening the metaphyseal window. In this article, we describe the size and concept of the modified design and its efficacy to address depression injuries.
PubMed: 38450412
DOI: 10.1016/j.jcot.2024.102383 -
European Journal of Human Genetics :... Oct 2023Acromesomelic dysplasia, PRKG2 type (AMDP, MIM 619636), is an extremely rare autosomal recessive skeletal dysplasia characterized by severe disproportionate short...
Acromesomelic dysplasia, PRKG2 type (AMDP, MIM 619636), is an extremely rare autosomal recessive skeletal dysplasia characterized by severe disproportionate short stature presenting with acromesomelia, mild metaphyseal widening of the long bones and mild spondylar dysplasia. To date, only four variants have been reported; one nonsense, one splice-site, and two frameshifts in five AMDP families. Here, we report the first missense variant and a second splice-site variant in PRKG2 in two patients with clinical and radiological features of acromesomelic dysplasia. Furthermore, functional studies of the novel missense variant, p.Val470Gly, revealed that it was unable to down-regulate FGF2-induced MAPK signaling and, thus, would be predicted to cause growth delay. Hence, this report expands the mutational spectrum in skeletal dysplasias associated with PRKG2 variants. In addition, we propose recognizable facial features with acromesomelic dysplasia, PRKG2 type.
PubMed: 37789084
DOI: 10.1038/s41431-023-01472-z -
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 -
Journal of Medical Genetics Aug 2023Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders characterised by susceptibility to fractures, primarily due to defects in type 1 collagen....
BACKGROUND
Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders characterised by susceptibility to fractures, primarily due to defects in type 1 collagen. The aim of this study is to present a novel OI phenotype and its causative candidate gene.
METHODS
Whole-exome sequencing and clinical evaluation were performed in five patients from two unrelated families. mRNA expression in blood and fibroblasts was investigated by real-time PCR, and western blot analysis was further performed on skin fibroblasts.
RESULTS
The common findings among the five affected children were recurrent fractures and/or osteopaenia, platyspondyly, short and bowed long bones, and widened metaphyses. Metaphyseal and vertebral changes regressed after early childhood, and no fractures occurred under bisphosphonate treatment. We identified biallelic NM_001144758.3:c.2392dup and NM_001144758.3:c.2690_2693del pathogenic variants in in the affected patients, respectively, in the families; parents were heterozygous for these variants. encodes pleckstrin homology-like domain family B member-1 (PHLDB1) protein, which has a role in insulin-dependent Akt phosphorylation. Compared with controls, a decrease in the expression levels of in the blood and skin fibroblast samples was detected. Western blot analysis of cultured fibroblasts further confirmed the loss of PHLDB1.
CONCLUSION
Two biallelic frameshift variants in the candidate gene were identified in independent families with a novel, mild-type, autosomal recessive OI. The demonstration of decreased mRNA expression levels in blood and fibroblast samples supports the hypothesis that pathogenic variants are causative for the observed phenotype.
Topics: Humans; Child, Preschool; Osteogenesis Imperfecta; Heterozygote; Phenotype; Frameshift Mutation; Fractures, Bone; Collagen Type I; Mutation; Nerve Tissue Proteins; Intracellular Signaling Peptides and Proteins
PubMed: 36543534
DOI: 10.1136/jmg-2022-108763 -
Bone Feb 2023Dysosteosclerosis (DSS) refers to skeletal dysplasias that radiographically feature focal appendicular osteosclerosis with variable platyspondyly. Genetic heterogeneity...
Dysosteosclerosis (DSS) refers to skeletal dysplasias that radiographically feature focal appendicular osteosclerosis with variable platyspondyly. Genetic heterogeneity is increasingly reported for the DSS phenotype and now involves mutations of SLC29A3, TNFRSF11A, TCIRG1, LRRK1, and CSF1R. Typical radiological findings are widened radiolucent long bones with thin cortices yet dense irregular metaphyses, flattened vertebral bodies, dense ribs, and multiple fractures. However, the radiographic features of DSS evolve, and the metaphyseal and/or appendicular osteosclerosis variably fades with increasing patient age, likely due to some residual osteoclast function. Fractures are the principal presentation of DSS, and may even occur in infancy with SLC29A3-associated DSS. Cranial base sclerosis can lead to cranial nerve palsies such as optic atrophy, and may be the initial presentation, though not observed with SLC29A3-associated DSS. Gene-specific extra-skeletal features can be the main complication in some forms of DSS such as CSF1R- associated DSS. Further genetic heterogeneity is likely, especially for X-linked recessive DSS and cases currently with an unknown genetic defect. Distinguishing DSS can be challenging due to variable clinical and radiological features and an evolving phenotype. However, defining the DSS phenotype is important for predicting complications, prognosis, and instituting appropriate health surveillance and treatment.
Topics: Humans; Osteopetrosis; Osteosclerosis; Osteochondrodysplasias; Mutation; Vacuolar Proton-Translocating ATPases; Nucleoside Transport Proteins
PubMed: 36402365
DOI: 10.1016/j.bone.2022.116615 -
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 -
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 -
AJR. American Journal of Roentgenology Dec 2022Despite evidence supporting the specificity of classic metaphyseal lesions (CML) for the diagnosis of child abuse, some medicolegal practitioners claim that CML result...
Despite evidence supporting the specificity of classic metaphyseal lesions (CML) for the diagnosis of child abuse, some medicolegal practitioners claim that CML result from rickets rather than trauma. The purpose of this study was to evaluate radiologists' diagnostic performance in differentiating rickets and CML on radiographs. This retrospective seven-center study included children younger than 2 years who underwent knee radiography from January 2007 to December 2018 and who had either rickets (25-hydroxyvitamin D level < 20 ng/mL and abnormal knee radiographs) or knee CML and a diagnosis of child abuse from a child abuse pediatrician. Additional injuries were identified through medical record review. Radiographs were cropped and zoomed to present similar depictions of the knee. Eight radiologists independently interpreted radiographs for diagnoses of rickets or CML, rated confidence levels, and recorded associated radiographic signs. Seventy children (27 girls, 43 boys) had rickets; 77 children (37 girls, 40 boys) had CML. Children with CML were younger than those with rickets (mean, 3.7 vs 14.2 months, < .001; 89.6% vs 5.7% younger than 6 months; 3.9% vs 65.7% older than 1 year). All children with CML had injuries in addition to the knee CML identified at physical examination or other imaging examinations. Radiologists had almost perfect agreement for moderate- or high-confidence interpretations of rickets (κ = 0.92) and CML (κ = 0.89). Across radiologists, estimated sensitivity, specificity, and accuracy for CML for moderate- or high-confidence interpretations were 95.1%, 97.0%, and 96.0%. Accuracy was not significantly different between pediatric and nonpediatric radiologists ( = .20) or between less experienced and more experienced radiologists ( = .57). Loss of metaphyseal zone of provisional calcification, cupping, fraying, and physeal widening were more common in rickets than CML, being detected in less than 4% of children with CML. Corner fracture, bucket-handle fracture, subphyseal lucency, deformed corner, metaphyseal irregularity, and subperiosteal new bone formation were more common in CML than rickets, being detected in less than 4% of children with rickets. Radiologists had high interobserver agreement and high diagnostic performance for differentiating rickets and CML. Recognition that CML mostly occur in children younger than 6 months and are unusual in children older than 1 year may assist interpretation. Rickets and CML have distinct radiographic signs, and radiologists can reliably differentiate these two entities.
Topics: Male; Female; Humans; Child; Infant; Child, Preschool; Retrospective Studies; Rickets; Radiography; Bone and Bones; Child Abuse; Fractures, Bone; Radiologists
PubMed: 35792137
DOI: 10.2214/AJR.22.27729 -
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