Evaluation of Hindlimb Deformity and Posture in Dogs with Grade 2 Medial Patellar Luxation during Awake Computed Tomography Imaging while Standing

Objective The aim of this study was to determine the degree of bone deformities and hindlimb postural abnormalities in a standing position in awake Toy poodles with and without grade 2 medial patellar luxation (MPL) using high speed 320-row computed tomography (CT). Methods The limbs with grade 2 MPL (MPL-G2 group) and without any orthopaedic disorders (control group) were imaged in a standing position, without sedation or anaesthesia, using CT. In MPL-G2 group, images were obtained when the patella was luxated (G2-L group) and reduced (non-luxation, G2-NL group). Bone morphologies of the femur and tibia were quantified three-dimensionally. Hindlimb standing posture was evaluated by measuring femoral rotation and abduction angles, tibial rotation angle, metatarsal rotation angle, foot rotation angle, angle between the femoral anatomical axis and the mechanical axis of hindlimb and stifle joint line convergence angle. Results There were no significant differences in bone morphologic parameters between the MPL-G2 group (5 limbs) and the control group (6 limbs). In the G2-NL group, there were no significant hindlimb postural abnormalities. In contrast, in the G2-L group, significant hindlimb postural abnormalities including external rotation of femur, internal rotation of tibia and foot, external rotation of tarsal joint, large stifle joint convergence angle, genu varum and toe-in standing were observed. Conclusion Dogs with grade 2 MPL have no bone deformities but show abnormal standing posture when the patella is luxated.

A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia

Frontometaphyseal dysplasia (FMD) type 2 is an autosomal dominant disorder characterized by skeletal abnormalities and caused by MAP3K7 mutation. We identified a novel missense mutation in TAB2 associated with FMD in a child with multiple congenital malformations. This case was diagnosed as FMD due to joint contractures and bone deformities. This is the third report of FMD caused by a TAB2 mutation located in the TAK1-binding region.

Natural Drug-Loaded Bimetal-Substituted Hydroxyapatite-Polymeric Composite for Osteosarcoma-Affected Bone Repair

Repairing segmental bone deformities after resection of dangerous bone tumors is a long-standing clinical issue. The study’s main objective is to synthesize a natural bioactive compound-loaded bimetal-substituted hydroxyapatite (BM-HA)-based composite for bone regeneration. The bimetal (copper and cadmium)-substituted HAs were prepared by the sol-gel method and reinforced with biocompatible polyacrylamide (BM-HA/PAA). Umbelliferone (UMB) drug was added to the BM-HA/PAA composite to enhance anticancer activity further. The composite’s formation was confirmed by various physicochemical investigations, such as FT-IR, XRD, SEM, EDAX, and HR-TEM techniques. The bioactivity was assessed by immersing the sample in simulated body fluid for 1, 3, and 7 days. The zeta potential values of BM-HA/PAA and BM-HA/PAA/UMB are −36.4 mV and −49.4 mV, respectively. The in vitro viability of the prepared composites was examined in mesenchymal stem cells (MSCs). It shows the ability of the composite to produce osteogenic bone regeneration without any adverse effects. From the gene expression and PCR results, the final UMB-loaded composite induced osteogenic markers, such as Runx, OCN, and VEFG. The prepared bimetal substituted polyacrylamide reinforced HA composite loaded with UMB drug has the ability for bone repair/regenerations.

Chondromas and multiple enchondromatosis

Introduction The chondromas are a cartilaginous proliferation of mature appearance and moderate size, reason why these tumors are regarded more like hamartomas than real benign tumor. Chondromas represent 10 to 12 % of benign bone tumors. Any bone of an enchondral ossification may be involved. Several bones can be involved, and the disease is called “chondromatosis”. In the review we describe clinical and radiological findings of this pathology as well as indications for reconstructive surgery. Material and methods The review is dedicated to isolated chondromas, periosteal and extraskeletal chondromas, chondromatosis. Results The aspects of epidemiology, clinical presentation, radiology, MRI, prognosis, indications and methods of surgical treatment have been described in the article for each types of chondroma and enchondromatosis. Conclusion Chondromas are benign bone tumors which may be responsible of pathologic fractures. Their surgical treatment consists in curettage and bone grafting or bone-cement filling with or without osteosynthesis. Multiple enchondromatosis should be considered as an osteochondrodysplasia. Its treatment is not the treatment of the multiple chondromas themselves, but of the bone deformities and length discrepancy induced by the disorder. The transformation of some tumors in chondrosarcomas in adolescence or adulthood needs a strict follow up of these patients.

Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches

Lysosomal storage disorders (LSDs) are a group of 60 rare inherited diseases characterized by a heterogeneous spectrum of clinical symptoms, ranging from severe intellectual disabilities, cardiac abnormalities, visceromegaly, and bone deformities to slowly progressive muscle weakness, respiratory insufficiency, eye defects (corneal clouding and retinal degeneration), and skin alterations [...]

A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report

Osteogenesis imperfecta (OI) and other decreased bone density disorders comprise a heterogeneous group of heritable diseases with skeletal fragility. Recently, it was discovered that mutations in SGMS2, encoding sphingomyelin synthetase 2, result in aberrant sphingomyelin metabolism and lead to a novel form of OI termed osteoporosis with calvarial doughnut lesions (OP-CDL) with moderate to severe skeletal fragility and variable cranial hyperostotic lesions. This study describes a Japanese family with the skeletal phenotype of OP-CDL. The affected individuals have moderately severe, childhood-onset skeletal fragility with multiple long-bone fractures, scoliosis and bone deformities. In addition, they exhibit multiple CDLs or calvarial bumps with central radiolucency and peripheral radiopacity. However, SGMS2 sequencing was normal. Instead, whole-exome sequencing identified a novel IFITM5 missense mutation c.143A>G (p.N48S) (classified as a VUS by ACMG). IFITM5 encodes an osteoblast-restricted protein BRIL and a recurrent c.-14C>T mutation in its 5' UTR region results in OI type V, a distinctive subtype of OI associated with hyperplastic callus formation and ossification of the interosseous membranes. The patients described here have a phenotype clearly different from OI type V and with hyperostotic cranial lesions, feature previously unreported in association with IFITM5. Our findings expand the genetic spectrum of OP-CDL, indicate diverse phenotypic consequences of pathogenic IFITM5 variants, and imply an important role for BRIL in cranial skeletogenesis.

Morphological Analysis of Bone Deformities of the Distal Femur in Toy Poodles with Medial Patellar Luxation

Objective The aim of this study was to evaluate the bone deformities of the distal femur of Toy Poodles with medial patellar luxation (MPL) using computed tomography. Methods Computed tomography data from 37 stifles of Toy Poodles (16 normal, 10 grade 2 MPL and 11 grade 4 MPL) were analysed. For trochlear morphology, sulcus angle, medial or lateral trochlear inclination and trochlear angle were compared. For condylar morphology, distance between the apex of the medial or lateral trochlear ridge and the most caudal point of the medial or lateral femoral condyle (MC or LC), the length of the cranial/middle (anterior) part (MC(a) or LC(a')) and caudal (posterior) part (MC(p) or LC(p')) of distal femur and medial or lateral condyle width (MCW or LCW) were measured, and the ratios of medial-to-lateral condyles and anterior–posterior parts were compared. Results Sulcus angle was significantly higher, and medial trochlear inclination was significantly lower in grade 4 MPL group than other groups. Lateral trochlear inclination was not significantly different among 3 groups. Trochlear angles at proximal trochlear groove were significantly lower in grade 4 MPL group than other groups. MC/LC, MC(a)/LC(a'), MC(a)/MC(p), and LC(a')/LC(p') were significantly lower in grade 4 MPL group than other groups; however, there were no significant differences in MC(p)/LC(p') and MCW/LCW among three groups. Conclusion Hypoplasia of the cranial and middle rather than caudal compartment of the distal femur was the primary morphological abnormality in Toy Poodles with grade 4 MPL.

A Case Report of Hyperphosphatasia Treated with Pamidronate

Background: Hereditary hyperphosphatasia is a congenital and rare disease with high bone turn over. The disease is defined with extremely elevated alkaline phosphatase levels. Neonates with hyperphosphatasia are normal at birth but develop progressive long bone deformities, fracture, vertebral collapse, skull enlargement due to massively thickened calvarium, and deafness. Case Presentation: Here, we described a male patient with progressive deformity in limbs and pain during walking that onset of symptoms was from age of two. The patient admitted to the Shahid Sadoughi Hospital, Yazd, was born from a non-consanguineous marriage. He was treated with pamidronate until halt of the disease progression and followed up for 18 months. Conclusion: Bisphosphonate is the treatment of choice for hyperphosphatasia because it can normalize bone turnover, improve growth rates, and skeletal quality.

Ground water toxicity due to fluoride contamination in Southwestern Lahore, Punjab, Pakistan

The prevalence of dental/bone deformities provides motivation for studying the distribution, severity and sources of the Fluoride (F−1). The ground water samples (n = 77) were collected, from the districts of Lahore and Kasur of approximately 750 Km2 area. The water was analyzed for fluoride (F−), pH, electric conductivity (EC), alkalinity and hardness. The results revealed F− concentration ranges from 0.25–21.3 mg. An inverse relation between depth and fluoride concentration was observed. On the basis of cluster analysis three zones were identified. Highly toxic zone was a strip of 15 km wide and 3 km long, along Multan road from Sunder to Phool Nagar bypass, with fluoride concentration (08–21.3 mg/l). The highly toxic zone inhabited a number of industrial units, disposing off their waste water through soaking pits. These units contribute pollution to the shallow water, which further penetrates to the surroundings. Hence the shallow water (depth of 45–50 feet) was the most contaminated. The intensity of toxic effects decreases from highly to mild toxic zone. It was concluded that the problem was actually associated with the industrial waste water. Therefore, to overcome the issue, measures of supplying fresh drinking water from the deep aquifer as well as treatment of industrial water is suggested. HIGHLIGHT Industry was actually responsible for fluoride toxicity in the region rather than natural sources.