3,753 results match your criteria: "Osteopetrosis"

The correlation of intracranial parenchymal calcium score and the severity of neurological clinical presentation in carbonic anhydrase deficiency type 2.

Brain Dev

December 2024

Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia; Division of Medical Genetics, Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia. Electronic address:

Background: Carbonic anhydrase type II deficiency (CAII-D) syndrome is a rare autosomal recessive genetic disorder characterized by osteopetrosis, renal tubular acidosis, and brain calcifications. Understanding the clinical and radiological features of CAII-D is key to effective management.

Aim: This study aimed to comprehensively analyze and measure intracranial parenchymal calcium score in pediatric CAII-D in relation to the severity of neurological clinical presentation.

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Osteoprotegerin secretion and its inhibition by RANKL in osteoblastic cells visualized using bioluminescence imaging.

Bone

February 2025

Department of Biochemistry, School of Dentistry, Aichi Gakuin University, 1-100 Kusumoto-cho, Chikusa-ku, Nagoya, Aichi 464-8650, Japan. Electronic address:

Bone remodeling is regulated by the interaction between receptor activator of nuclear factor kappa-B ligand (RANKL) and its receptor RANK on osteoblasts and osteoclasts, respectively. Osteoprotegerin (OPG) is secreted from osteoblasts and inhibits osteoclast differentiation by acting as a decoy receptor for RANKL. Despite its importance, the mechanism underlying the secretion of OPG remains poorly understood.

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Therapeutic targeting of Wnt antagonists by small molecules for treatment of osteoporosis.

Biochem Pharmacol

December 2024

Division of Endocrinology and Center for Research on Anabolic Skeletal Targets for Health and Illness (ASTHI), CSIR-Central Drug Research Institute, Lucknow 226031, India; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India. Electronic address:

Wnt signaling is one of the key regulators of bone development and homeostasis. Wnt signaling regulates key biological events, including stem cell fate and osteoblast and osteoclast activity, leading to the maintenance of bone mass and strength. Wnt ligands are secreted glycoproteins that bind to Frizzled (FZD) receptors and their coreceptors, lipoprotein receptor-related proteins-5/6 (LRP5/6).

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Osteopetrosis-like disorders induced by osteoblast-specific retinoic acid signaling inhibition in mice.

Bone Res

October 2024

Center of Craniofacial Orthodontics, Department of Oral & Cranio-Maxillofacial Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, College of Stomatology, Shanghai Jiao Tong University; National Center for Stomatology; National Clinical Research Center for Oral Disease; Shanghai Key Laboratory of Stomatology, Shanghai Research Institute of Stomatology, Shanghai, China.

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Article Synopsis
  • Congenital diarrhea can be tough to diagnose, especially when standard tests don't give clear results.
  • A female infant presented symptoms of osteopetrosis along with unexplained diarrhea, leading to genetic testing that uncovered a significant deletion on chromosome 16p13.3.
  • This case highlights the need to investigate genetic factors, like 16p13.3 deletions, when diagnosing conditions that seem to involve multiple symptoms.
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Article Synopsis
  • * Diagnosis of osteopetrosis involves genetic testing and imaging techniques like X-rays and CT scans to confirm the condition.
  • * A case study is presented of a 13-year-old boy in Morocco whose osteopetrosis was identified through unusual symptoms and confirmed via CT imaging, highlighting challenges in accessing medical care.
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  • * In research using a mouse model that mimics ARO, gene therapy (GT) with lentiviral vectors effectively improved bone density and allowed for long-term survival, while also enhancing the collection of necessary stem cells through a method called plerixafor-induced mobilization.
  • * The study suggests that non-genotoxic conditioning before transplantation can lead to better outcomes, including stable stem cell engraftment and improved bone health, providing a
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Introduction: Osteoclasts determine bone tissue turnover. Their increased activity causes osteoporosis, their dysfunction osteopetrosis.

Methods And Results: Murine monocytic ER-Hoxb8 cells differentiate into OCs upon treatment with M-CSF and RANKL and upregulate the collagen-binding integrin α2β1 distinctly earlier than other OC markers, such as the OC-associated receptor, OSCAR.

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Malignant osteopetrosis of infancy: A case report.

Int J Surg Case Rep

October 2024

Department of Nursing and Midwifery, Neyshabur University of Medical Sciences, Neyshabur, Iran. Electronic address:

Introduction: Osteopetrosis is a genetic bone disease whose main feature is the function of osteoclasts. This rare disorder affects one in every 250,000 live births. In terms of pathophysiology, osteopetrosis is divided into four types from mild to severe forms of the disease.

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Investigating mechanical and inflammatory pathological mechanisms in osteoarthritis using MSC-derived osteocyte-like cells in 3D.

Front Endocrinol (Lausanne)

August 2024

Biomechanics and Bioengineering Centre Versus Arthritis, School of Biosciences, Cardiff University, Cardiff, United Kingdom.

Article Synopsis
  • The study created a humanized model to examine how osteocytes respond to interleukin-6 and mechanical loading, both of which are important in the development of osteoarthritis.
  • The results showed that mechanically loaded osteocytes activated over 7,500 genes, with significant effects on pathways related to pain, bone remodelling, and inflammation.
  • The research suggests potential drug targets based on genes regulated by mechanical load, and interleukin-6 produced similar responses, highlighting its role in joint injury and degeneration.
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Challenges of Hip and Knee Arthroplasty in Patients With Osteopetrosis.

J Am Acad Orthop Surg

October 2024

From the Department of Surgery, Hospital Maisonneuve-Rosemont, Montreal University, Montreal, QC, Canada (Dr. Beckers, Dr. Vendittoli, Dr. Morcos, and Dr. Massé), the Department of Surgery, CHU Sainte-Justine, Montréal, Quebec, Canada (Mazy), the Clinique Orthopédique Duval, Laval, QC, Canada (Vendittoli and Massé), and the Personalized Arthroplasty Society, Atlanta, GA (Vendittoli).

Article Synopsis
  • Osteopetrosis is a rare bone disease that leads to increased bone density due to malfunctioning osteoclasts, which makes bones more brittle and prone to fractures and deformities.
  • Joint problems, specifically hip and knee osteoarthritis, often develop as long-term complications in patients with osteopetrosis, making joint replacement surgery a common treatment for advanced cases.
  • However, performing joint arthroplasty in osteopetrosis patients carries a higher risk of complications, requiring careful preoperative and surgical planning to address the unique challenges posed by the disease.
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Bone-resorbing osteoclasts (OCLs) are formed by differentiation and fusion of monocyte precursor cells, generating large multinucleated cells. Tightly regulated cell fusion during osteoclastogenesis leads to formation of resorption-competent OCLs, whose sizes fall within a predictable physiological range. The molecular mechanisms that regulate the onset of OCL fusion and its subsequent arrest are, however, largely unknown.

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  • Sirenians, like the African manatee, have unique adaptations for aquatic life, exhibiting features similar to cetaceans but also distinctive traits such as cold sensitivity and dense bones. !* -
  • A high-quality chromosome-level genome of the African manatee reveals positive selection in genes linked to dense bone formation and adaptations to cold water, highlighting evolutionary changes. !* -
  • The study identifies 392 genes that show convergent evolution among fully aquatic mammals, indicating important genetic adaptations for survival in water, while also emphasizing the manatee's low genetic diversity and the need for conservation efforts. !*
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Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder.

Bone

November 2024

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children-St. Louis, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:

Craniotubular dysplasia, Ikegawa type (OMIM #619727) denotes the autosomal recessive skeletal disease identified in 2021 featuring blindness acquired in childhood. Five young members of four Indian families harbored a homozygous indel within TMEM53 (OMIM *619722), the gene that encodes transmembrane protein 53 (TMEM53). When intact, TMEM53 spans the nuclear envelope of osteoprogenitor cells, dampens BMP-SMAD signaling, and thereby slows bone formation.

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Article Synopsis
  • * JAK1/2 inhibitor Ruxolitinib was specifically noted to shrink spleen size, while the drugs Aplidin and SB431542/AVID200 improved platelet counts and various inhibitors reduced tissue fibrosis.
  • * The research suggests that combining Ruxolitinib with treatments targeting hematopoietic stem cells or inflammation could enhance therapeutic outcomes for myelofibrosis.
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Background: We clinically and genetically evaluated a Taiwanese boy presenting with developmental delay, organomegaly, hypogammaglobulinemia and hypopigmentation without osteopetrosis. Whole-exome sequencing revealed a de novo gain-of-function variant, p.Tyr715Cys, in the C-terminal domain of ClC-7 encoded by CLCN7.

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Successful completion of orthodontic therapy in a patient with osteopetrosis: Case Report.

J Orthod

July 2024

Director of Oral and Maxillofacial Radiology, Department of Oncology and Diagnostic Sciences, University of Maryland School of Dentistry, Baltimore, MD, USA.

Article Synopsis
  • Orthodontic therapy for patients with osteopetrosis (OP) has been usually avoided due to complications like poor bone health and risk of infections, making successful cases rare in literature.
  • A 14-year-old patient presented with dental crowding and was found to have polyostotic OP affecting their jaw structure, complicating their orthodontic diagnosis and treatment.
  • The treatment involved fixed orthodontic appliances without extractions, resulting in a slight Class II malocclusion after three years, showcasing that effective orthodontic care is possible for patients with OP.
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Article Synopsis
  • Albers-Schönberg disease, or osteopetrosis, is a rare genetic disorder that results in dense but dysfunctional bones due to impaired osteoclast function.
  • A case study of a 34-year-old male with autosomal dominant osteopetrosis presented challenges related to a chronic mandibular abscess and osteomyelitis, necessitating surgical intervention and antibiotic treatment.
  • The case highlights the complexities of treating osteomyelitis in osteopetrosis patients, emphasizing the need for early diagnosis and research for better management strategies.
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Impact of the SIK3 pathway inhibition on osteoclast differentiation via oxidative phosphorylation.

J Bone Miner Res

September 2024

Department of Orthopaedic Surgery, Faculty of Medicine, University of Toyama, 2630 Sugitani, Toyama 930-0194, Japan.

Article Synopsis
  • The study examines the role of salt-inducible kinase 3 (SIK3) in osteoclast differentiation, which is important for maintaining bone health.
  • Researchers created mice lacking SIK3 specifically in osteoclasts, finding these mice had increased bone mass and showed signs of osteopetrosis, indicating SIK3 is crucial for bone resorption.
  • Treatment with the SIK3 inhibitor pterosin B suppressed osteoclast differentiation and affected metabolic pathways, suggesting SIK3 plays a key role in the molecular mechanisms of osteoclast function and bone diseases.
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Article Synopsis
  • Osteopetrosis is a group of inherited bone disorders caused by issues with osteoclasts, affecting bone density and treatment options based on disease severity.
  • A study on 31 Indian patients identified 30 genetic variants, mostly involving specific genes, with 17 being novel findings, highlighting the genetic complexity of the condition.
  • Accurate genetic diagnosis is crucial for treatment decisions, such as stem cell transplantation, and can facilitate prenatal screening for affected families.
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Background: Congenital optic canal stenosis causing compressive optic neuropathy is a rare disorder that presents unique diagnostic and treatment challenges. Endoscopic endonasal optic nerve decompression (EOND) has been described for optic nerve compression in adults and adolescents but has never been reported for young children without pneumatized sphenoid sinuses. The authors describe preoperative and intraoperative considerations for three patients younger than 2 years of age with congenital optic canal stenosis due to genetically confirmed osteopetrosis or chondrodysplasia.

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