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Metabolic Bone Disease and Systemic Disorders of the Temporal Bone
Published in R James A England, Eamon Shamil, Rajeev Mathew, Manohar Bance, Pavol Surda, Jemy Jose, Omar Hilmi, Adam J Donne, Scott-Brown's Essential Otorhinolaryngology, 2022
Victoria Alexander, Parag Patel
There are two types of osteopetrosis: Benign osteopetrosis (normal life span): Often asymptomatic, requiring no medical treatment.Malignant osteopetrosis: Often presenting in infancy with bone marrow failure, neurological deficits, pathological fractures, severe anemia, failure to thrive and optic nerve atrophy. It is treated with interferon gamma and steroids.
Marble Bone
Published in Michael E. Mulligan, Classic Radiologic Signs, 2020
Marble bone disease was first described by Heinrich Albers-Schonberg’ (1865–1921) in 1904. Fritz Schulze2 coined the term marmor-knochcn (marble bone) in 1921. Albers-Schonberg’s patient was a 23-year-old merchant whose diffuse osteosclerosis (Figure 1) was said to give the bones a ‘marble-like’ appearance. He was first seen after a stumble in a hole caused a femur fracture. Roentgenograms revealed an ‘ebony’ appearance of the femur (due to the ‘reverse’, black bone on white background, printing) with no evidence of a medullary space. Further examination of the whole skeleton revealed the diffuse osteosclerosis that Albers-Schonberg3 described, as if ‘formed from marble’, in his second report on the same patient. Our current term for this hereditary disorder of osteoblasts is osteopetrosis or Albers-Schonberg disease. At the time of the first report an increase in bone density was often attributed to an increase in the ‘lime content of the bones.’ Perhaps this is one of the reasons the term marble bone was chosen since ‘marble is a limestone which has crystallized through heat and pressure.’4 There are very few other disorders in young patients that can cause such a diffuse homogeneous increase in bone density. One key to the diagnosis of osteopetrosis is an inability to distinguish the normal boundary between the medullary space and the cortex. This important point was mentioned by Albers-Schonberg in his original report.
Animal Models of Osteopenia or Osteoporosis
Published in Yuehuei H. An, Richard J. Friedman, Animal Models in Orthopaedic Research, 2020
Donald B. Kimmel, Erica L. Moran, Earl R. Bogoch
The mouse is now rising as an in vivo model for osteoporosis research. It is the ideal model of osteopetrosis,49-50 osteoclast and stromal cell ontogeny,51 and cytokine and marrow studies.52-54 It will become even more popular for the ease with which its genome can be manipulated.55-58 Mice have been used to identify and characterize osteopetrosis genes,50 both with linkage and transgenic animal studies. The disclosure of genes associated with osteopetrosis, a disease of osteoclast dysfunction, may lead to the discovery of agents that inactivate osteoclasts. Strains of mice with low and high peak bone mass59 lend themselves to genetic investigations.15 Considering the availability of SAM/P6, C57BL/6J, and C3H/HeJ,59 proper breeding techniques with probing the whole genome for high density polymorphic markers should identify one or more genetic loci linked to bone mass in mice.
A unified framework of cell population dynamics and mechanical stimulus using a discrete approach in bone remodelling
Published in Computer Methods in Biomechanics and Biomedical Engineering, 2023
Diego Quexada, Salah Ramtani, Olfa Trabelsi, Kalenia Marquez, Dorian Luis Linero Segrera, Carlos Duque-Daza, Diego Alexander Garzón Alvarado
In this article, we present a new model based on previous classical bone remodeling approaches, the one of Komarova et al. (2003) and that of Nackenhorst (1997). These two models were chosen because when coupled they offer a simple tool to look into correlations between mechanical and biological regulating factors, more specifically, this model could help researchers to illustrate how the periodicity of the bone remodelling process responds to a mechanical stimulus in trabecular bone and how it affects the formation of the major trabecular groups under action of certain paracrine and autocrine regulator. This information may be useful in pathological cases such as osteoporosis and osteopetrosis. For this purpose, the medical case of a femur is analyzed. The model also has the advantage of using a discrete modelling approach in a 2D domain, allowing to capture cell dynamic in each BMU and to capture the anisotropic behavior of bone, additionally it improves the computational speed by means of a direct formulation for the finite element method (Lenthe and Müller 2006; Daxner 2010).
RANKL: A therapeutic target for bone destruction in rheumatoid arthritis
Published in Modern Rheumatology, 2018
Sakae Tanaka, Yoshiya Tanaka, Naoki Ishiguro, Hisashi Yamanaka, Tsutomu Takeuchi
The essential role of RANKL in RA bone lesions was further clarified in a series of animal experiments. OPG treatment ameliorated arthritic bone destruction in adjuvant arthritis rats and human TNF-α-transgenic mice [29], and bone erosion in serum transfer-induced arthritis was markedly reduced in RANKL-deficient mice [30]. Systemic bone loss, as well as local bone erosion in TNF-α transgenic mice, was also ameliorated by OPG injection in combination with anti-TNF-α antibody [31]. Findings in a rare human case further confirmed the critical role of osteoclasts in bone destruction in RA. Osteopetrosis is an inherited disorder characterized by increased BMD, which is caused by osteoclast differentiation or function [32]. We reported on a patient with osteopetrosis associated with RA [33]. He had been diagnosed with autosomal dominant osteopetrosis type II in his youth, with markedly reduced osteoclast activity, and simultaneously developed RA. However, the patient demonstrated slow progression of bone erosion, despite severe inflammation and rapid progression of cartilage destruction [33].
Visual Function Improvement After Optic Nerve Sheath Fenestration in Osteopetrosis Patients with Optic Canal Stenosis: A Report of Two Cases
Published in Neuro-Ophthalmology, 2018
Daniah Alshowaeir, Abdulrazag Ajlan, Sajjad Hussain, Adel Alsuhaibani
Osteopetrosis is a heterogeneous bone disorder characterized by osteoclast dysfunction and impaired bone resorption that cause increased bone density.1–3 The disorder leads to bone marrow dysfunction and life-threatening conditions such as anaemia, pancytopenia, and sepsis.3,4 Other disabling features such as blindness and deafness occur as well, mainly due to nerve compression in the bony canals. Optic nerve atrophy can be a consequence of compressive neuropathy, long-standing papilledema caused by increased intracranial pressure, or due to retinal degeneration.3,5,6