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JBJS Case Connector Apr 2024Two patients with osteopetrosis underwent conversion total hip arthroplasty (THA) after failure of internal fixation due to hip fractures. We experienced challenges,...
CASE
Two patients with osteopetrosis underwent conversion total hip arthroplasty (THA) after failure of internal fixation due to hip fractures. We experienced challenges, including difficulty of hardware removal, remaining of previous broken screws in the canal, difficulty in finding the femoral canal, and an intraoperative acetabulum fracture. Despite complications, both patients achieved satisfactory functional outcome after surgery at the latest follow-up.
CONCLUSION
Our cases showed that previous hip fracture and failed internal fixation make conversion THA more complex and unpredictable in patients with osteopetrosis. This in turn underscores the critical need for advanced preoperative planning, intraoperative flexibility, and meticulous postoperative care.
Topics: Humans; Arthroplasty, Replacement, Hip; Osteopetrosis; Female; Hip Fractures; Male; Middle Aged; Fracture Fixation, Internal; Aged
PubMed: 38728525
DOI: 10.2106/JBJS.CC.23.00583 -
Journal of Pediatrics. Clinical Practice Mar 2024We present a newborn with transient generalized osteosclerosis and negative genetic workup. The etiology of this condition is unknown. Given overlapping radiologic signs...
We present a newborn with transient generalized osteosclerosis and negative genetic workup. The etiology of this condition is unknown. Given overlapping radiologic signs with severe forms of osteopetrosis, familiarity with this condition is crucial for correct diagnosis and management.
PubMed: 38827482
DOI: 10.1016/j.jpedcp.2024.200100 -
Calcified Tissue International Jul 2024Autosomal dominant osteopetrosis type 2 (ADO2) is a rare inherited bone disorder characterised by dense but brittle bones. It displays striking phenotypic variability,...
Autosomal dominant osteopetrosis type 2 (ADO2) is a rare inherited bone disorder characterised by dense but brittle bones. It displays striking phenotypic variability, with the most severe symptoms, including blindness and bone marrow failure. Disease management largely relies on symptomatic treatment since there is no safe and effective treatment. Most ADO2 cases are caused by heterozygous loss-of-function mutations in the CLCN7 gene, which encodes an essential Cl/H antiporter for proper bone resorption by osteoclasts. Thus, siRNA-mediated silencing of the mutant allele is a promising therapeutic approach, but targeting bone for first-in-human translation remains challenging. Here, we demonstrate the utility of silicon-stabilised hybrid lipid nanoparticles (sshLNPs) as a next-generation nucleic acid nanocarrier capable of delivering allele-specific siRNA to bone. Using a Clcn7 knock-in mouse model recapitulating one of the most common human ADO2 mutations and based on the 129S genetic background (which produces the most severe disease phenotype amongst current models), we show substantial knockdown of the mutant allele in femur when siRNA targeting the pathogenic variant is delivered by sshLNPs. We observed lower areal bone mineral density in femur and reduced trabecular thickness in femur and tibia, when siRNA-loaded sshLNPs were administered subcutaneously (representing the most relevant administration route for clinical adoption and patient adherence). Importantly, sshLNPs have improved stability over conventional LNPs and enable 'post hoc loading' for point-of-care formulation. The treatment was well tolerated, suggesting that sshLNP-enabled gene therapy might allow successful clinical translation of essential new treatments for ADO2 and potentially other rare genetic bone diseases.
Topics: Animals; Chloride Channels; Osteopetrosis; Mice; RNA, Small Interfering; Nanoparticles; Phenotype; Alleles; Bone and Bones; Disease Models, Animal
PubMed: 38733412
DOI: 10.1007/s00223-024-01222-3 -
Asian Journal of Surgery May 2024
PubMed: 38760215
DOI: 10.1016/j.asjsur.2024.05.048 -
Cureus Jan 2024Osteopetrosis is an uncommon and inherited disorder. Some disease-specific characteristics, such as diffuse osteosclerosis and a high incidence of fractures, may...
Osteopetrosis is an uncommon and inherited disorder. Some disease-specific characteristics, such as diffuse osteosclerosis and a high incidence of fractures, may potentially affect postoperative rehabilitation. This report presents a case of successful rehabilitation early after total hip arthroplasty for osteopetrosis. A 56-year-old Japanese man, who was diagnosed with osteopetrosis at the age of 11, underwent total hip arthroplasty in the right hip. Full weight-bearing was allowed on the day after the operation; the postoperative rehabilitation program was proceeded based on a standard program as done after total hip arthroplasty for osteoarthritis. A shoe lift in the left leg was used in supervised walking training to correct the imbalanced alignment due to leg length discrepancy. The patient could walk independently with a cane 17 days after the operation. Three weeks after the operation, the patient demonstrated comfortable and maximal walking speed of 1.11 and 1.34 m/s, respectively, and maximal hip abductor muscle strength of 3.96 kgf・m, both of which were better than those before the operation. There were no adverse events during the postoperative rehabilitation course. These findings suggest the safety and efficacy of standard rehabilitation programs after total hip arthroplasty even in individuals with osteopetrosis. In addition, it may be important to consider the whole-body condition in the rehabilitation of individuals with osteopetrosis.
PubMed: 38357069
DOI: 10.7759/cureus.52293 -
Nature Communications Jun 2024Acoustic vibrations of matter convey fundamental viscoelastic information that can be optically retrieved by hyperfine spectral analysis of the inelastic Brillouin...
Acoustic vibrations of matter convey fundamental viscoelastic information that can be optically retrieved by hyperfine spectral analysis of the inelastic Brillouin scattered light. Increasing evidence of the central role of the viscoelastic properties in biological processes has stimulated the rise of non-contact Brillouin microscopy, yet this method faces challenges in turbid samples due to overwhelming elastic background light. Here, we introduce a common-path Birefringence-Induced Phase Delay (BIPD) filter to disentangle the polarization states of the Brillouin and Rayleigh signals, enabling the rejection of the background light using a polarizer. We demonstrate a 65 dB extinction ratio in a single optical pass collecting Brillouin spectra in extremely scattering environments and across highly reflective interfaces. We further employ the BIPD filter to image bone tissues from a mouse model of osteopetrosis, highlighting altered biomechanical properties compared to the healthy control. Results herald new opportunities in mechanobiology where turbid biological samples remain poorly characterized.
Topics: Animals; Birefringence; Mice; Viscosity; Elasticity; Biomechanical Phenomena; Bone and Bones; Light; Scattering, Radiation
PubMed: 38898004
DOI: 10.1038/s41467-024-49419-2