A Rare Case of Bruck Syndrome Type 2 in Siblings With Broad Phenotypic Variability.

Conclusion: The dramatic difference between the phenotypes of these 2 cases is significant because it is the largest known variability of phenotypic presentation in siblings. Previous cases of siblings with differing presentations at birth have been reported, but the extent of these differences is not as extreme as in our cases. Because Bruck syndrome presents similarly to osteogenesis imperfecta and could be clinically mistaken for a form of osteogenesis imperfecta if contractures are minimal, a reasonable focus for research efforts is the development of genetic diagnostic protocols for osteogenesis imperfecta with the goal of ruling out Bruck syndrome. PMID: 32612477 [PubMed]
Source: Ochsner Journal - Category: General Medicine Tags: Ochsner J Source Type: research

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In this study, in vitro antiosteoporosis activity and hepatotoxicity of P. jamasakura bark extracts were evaluated. Methods. Mouse bone marrow macrophage (BMM) cells were incubated with tartrate-resistant acid phosphate (TRAP) buffers and p-nitrophenyl phosphate and cultured with different P. jamasakura bark extracts at concentrations of 0, 6.25, 12.5, 25, and 50 μg/ml in the presence of the receptor activator of nuclear factor kappa-Β ligand (RANKL) for 6 days. The osteoclast TRAP activity and cell viability were measured. Nitric oxide (NO) assay was conducted using murine macrophage-like RAW 264.7 cells tr...
Source: Evidence-based Complementary and Alternative Medicine - Category: Complementary Medicine Tags: Evid Based Complement Alternat Med Source Type: research
Authors: Liu X, Zheng J, Li F, Yi R, Mu J, Tan F, Zhao X Abstract A rat model of secondary osteoporosis was constructed using retinoic acid as an inducer, and the genes, proteins, and bone mass of the rats were analyzed. qPCR detection of the Wnt/β-catenin and OPG/RANK/RANKL signaling pathway-related gene expression levels showed that Lactobacillus plantarum HFY15 played a positive role in regulating both pathways. HFY15 significantly increased β-catenin, Lrp5, Lrp6, Wnt10b, OPG, RANKL, and Runx2 expression and downregulated DKK1, RANK, CTSK, TRACP, and ALP expression. Enzyme-linked immunosorbent assays f...
Source: Evidence-based Complementary and Alternative Medicine - Category: Complementary Medicine Tags: Evid Based Complement Alternat Med Source Type: research
Background: Controversy exists regarding the need for proximal fibular epiphysiodesis in conjunction with proximal tibial epiphysiodesis to prevent relative overgrowth of the fibula. The purpose of this study was to determine the incidence of relative fibular overgrowth in patients who had undergone proximal tibial epiphysiodesis with or without proximal fibular epiphysiodesis to manage leg-length discrepancy. Methods: We identified patients who had undergone proximal tibial epiphysiodesis, with or without concomitant fibular epiphysiodesis, followed to skeletal maturity, and with adequate scanograms to measure tibial...
Source: Journal of Pediatric Orthopaedics - Category: Orthopaedics Tags: Leg Length Discrepancy Source Type: research
Conclusions: In this dual-center retrospective series, the single-incision triple innominate osteotomy was extremely effective for improving acetabular coverage and stabilizing unstable hips in a variety of underlying diagnoses with an acceptably low rate of complications. Level of Evidence: Level IV—case series.
Source: Journal of Pediatric Orthopaedics - Category: Orthopaedics Tags: Selected Topics Source Type: research
Conclusions: The authors rejected their null hypothesis. Children do have the capacity to remodel radiographically measurable sagittal plane malunion of SCHFs. Children younger than 5 years of age can remodel 100% displacement of the center of the capitellum, whereas those over 8 years of age have minimal remodeling capacity.
Source: Journal of Pediatric Orthopaedics - Category: Orthopaedics Tags: Trauma Upper Extremity Source Type: research
Conclusions: Distal radius fractures have a large capacity to remodel in the pediatric population. This remodeling occurs in a predictable and reliable manner, even in the coronal plane. On the basis of this study, coronal angulation was shown to remodel at a rate of at least 2 degrees per month for the first 6 months following the injury, which should likely continue at a similar rate for the first year after the injury. Repeat manipulation is not indicated in skeletally immature patients where the maximum coronal angulation is
Source: Journal of Pediatric Orthopaedics - Category: Orthopaedics Tags: Trauma Upper Extremity Source Type: research
Conclusions: Intra-articular distal radius fractures in skeletally immature patients have a considerably higher rate of physeal growth arrest than extra-articular physeal fractures. Following acute management aimed at restoring and preserving anatomic physeal and articular alignment, follow-up radiographs should be obtained to evaluate for physeal arrest in skeletally immature children. Patients and families should be counseled regarding the high rate of growth disturbance and the potential need for deformity correction in the future, particularly in younger children. Level of Evidence: IV—case series.
Source: Journal of Pediatric Orthopaedics - Category: Orthopaedics Tags: Trauma Upper Extremity Source Type: research
Background: Chronic Monteggia lesions in children may cause pain, deformity, decreased range of motion, and neurological symptoms. Numerous surgical techniques have been advocated to reconstruct long-standing Monteggia injures in efforts to maximize long-term upper limb function. The purpose of this investigation was to assess the clinical and radiographic results of a modified surgical technique for missed Monteggia fracture-dislocations. Methods: A retrospective evaluation of 52 patients who underwent surgical reconstruction of missed Monteggia fracture-dislocations at a tertiary pediatric hospital was performed. Th...
Source: Journal of Pediatric Orthopaedics - Category: Orthopaedics Tags: Trauma Upper Extremity Source Type: research
Rationale: Progressive restriction of the spinal bio-mechanics is not-uncommon deformity encountered in spine clinics. Congenital spinal fusion as seen in Klippel-Feil-anomaly, progressive non-infectious anterior vertebral fusion, and progressive spinal hyperostosis secondary to ossification of the anterior longitudinal spinal ligament are well delineated and recognized. Patient concerns: A 24-year-old girl has history of osteoporosis since her early childhood, associated with multiple axial and appendicular fractures and scoliosis. Recently she presented with episodes of severe back pain, spinal rigidity/stiffness wi...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
ConclusionsPatients with OI type VI who received intravenous bisphosphonate treatment during growth had an increase in lumbar spine areal BMD, a higher final height z-score, and presented some reshaping of vertebral bodies. More effective treatment modalities are clearly required in OI type VI.
Source: Osteoporosis International - Category: Orthopaedics Source Type: research
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