Articles tagged with Bone Diseases
The study identified BMP2 and BBS9 genes associated with sagittal craniosynostosis, which affects about one in 5,000 newborns. Surgical treatment is necessary to prevent increased pressure within the skull, visual problems, and learning disabilities.
A study has identified two genetic factors linked to sagittal craniosynostosis, a condition causing premature skull closure. The findings may lead to prenatal screening and diagnostic tests or early interventions to prevent the condition.
A study published in PLoS ONE revealed the genetic cause of a severe skeletal disease in Brazilian Terrier puppies, caused by a mutation in the GUSB gene. The discovery enables the development of a DNA test to identify carriers, allowing breeders to systematically eliminate the disease from breeding programs.
Researchers investigate gum disease in young and old mice and find a drop in Del-1 levels is associated with increased gum disease. Understanding the effects of Del-1 on the immune system could lead to new treatments or prevention strategies for gum disease.
Researchers have identified a gene responsible for Thrombocytopenia with Absent Radii (TAR), a rare inherited blood and skeletal disorder. The discovery enables the development of a medical test for prenatal diagnosis and genetic counseling in affected families.
Researchers found that alpha-1-antitrypsin significantly reduced intense inflammation and increased T-regulatory cells, which play a positive role in immune responses. The drug may provide a potential new approach for treating graft-vs.-host disease.
Researchers have identified a connection between the enzyme Tankyrase and the rare disease cherubism, which is linked to two common types of blood cancer. This discovery opens up new therapeutic approaches using existing inhibitors.
Researchers at Penn's Perelman School of Medicine have made a breakthrough in treating the rare genetic disorder FOP, also known as fibrodysplasia ossificans progressiva. By using RNA interference to silence the damaged gene copy and leave the normal copy untouched, they restored cellular function caused by the FOP mutation.
A University of Bristol study found that omega-3-rich diets reduced disease by 50% compared to a standard diet in guinea pigs with naturally occurring osteoarthritis. Omega-3 influences biochemistry and helps prevent disease progression, potentially controlling established osteoarthritis.
A new translational research center aims to predict and prevent osteoarthritis in young people and improve care for adults suffering from the disease. The center will integrate imaging, biomechanics, and clinical medicine to develop clinical tools that can assess degeneration and risk factors.
A new human syndrome has been identified with craniosynostosis, maxillary hyperplasia, delayed tooth eruption, and supernumerary teeth due to a recessively inherited IL11RA gene mutation. The disorder affects the normal development of craniofacial bones and teeth.
Researchers propose reclassifying osteoarthritis into distinct divisions based on clinical and structural phenotypes. This could enable targeted treatments for specific patient groups, such as those affected by obesity or trauma. Improved imaging and biomarker technologies are needed to support this new classification system.
A team of researchers led by the University of Pittsburgh School of Medicine has confirmed that a gene from the measles virus plays a key role in the development of Paget's disease of bone. The study found that osteoclasts in affected patients express a viral protein, leading to characteristic bone lesions and increased risk of fracture.
Scientists have identified two genetic mutations that cause metachondromatosis, a rare heritable disorder leading to bony growths, by sequencing the entire genome of one individual. The study uses whole-genome sequencing technology and classic genetic approaches to provide faster identification of Mendelian genes.
Researchers identified three genes involved in regulating bone repair rate, explaining why Paget's disease occurs. The discovery could lead to a screening test for early detection and preventative treatment.
A new anti-inflammatory agent called ATL146e has been shown to limit and reverse the progression of graft-versus-host disease after bone marrow transplants. This breakthrough could make these potentially curative transplants safer and more widely used for individuals with inherited immunodeficiency diseases.
Researchers have developed a new technique to restore lost bone and gum tissue following periodontal disease, using layers of cells such as stem cells and gingival fibroblasts. The method has been shown to be successful in laboratory studies and has potential applications in other fields like skin grafts.
Researchers explored how changes in water content affect bone's structure and dynamics, revealing dynamical structural changes in collagen. The study's success enables future research into atomic-level behaviors of bone under different conditions.
Research in cirrhosis patients reveals low bone formation and increased resorption leading to fragile bones. The study highlights the importance of correcting factors such as inadequate sunlight exposure, reduced physical activity, and vitamin D deficiency to improve bone health.
A genetic mutation in a single amino acid causes defective collagen molecules to repel each other, leading to brittle bones and tissue failure. This study uses molecular-based multi-scale analysis to understand the impact of material properties on human disease.
Researchers at the La Jolla Institute have identified a previously unknown role of an enzyme in suppressing tumor growth, which may lead to new treatments for myeloproliferative diseases and certain types of leukemia. The discovery could also provide insights into the mechanisms underlying blood cancers.
Research led by David Hess identified how to use bone marrow stem cells to grow new blood vessels in mice with ligated leg arteries. These pro-angiogenic stem cells have a natural ability to induce blood vessel repair and improve blood flow in ischemic limbs.
Scientists at Boston University discovered Resolvins, a new family of biologically active products of omega-3 fatty acids with therapeutic potential. These compounds have been shown to resolve periodontal inflammation and regenerate tissues in experimental gum disease models.
Scientists have identified a key molecule in Apert Syndrome, a severe form of craniosynostosis that affects one in every 2500 live births. By 'dampening down' the levels of this molecule, FGF10, they demonstrated for the first time that it can reverse the effects of the disease.
Researchers have found that bone marrow-derived stem cells can increase production of the col7 protein and form anchoring fibrils, improving the connection between the dermis and epidermis. This treatment has shown promise in increasing survival time and reducing blister formation in mouse models of the disease.
Researchers have developed a new imaging method that uses glycosaminoglycan concentrations to diagnose osteoarthritis in its early stages. This non-invasive technique has the potential to monitor diseases like inter-vertebral disc degeneration and heart valve defects.
A recent study found that patients with severe periodontal disease incur higher overall health care expenses compared to those with no periodontal disease. Treating periodontal diseases early on using simple non-surgical techniques can help restore a healthy mouth and potentially lower total health care costs.
A study from Massachusetts General Hospital found that genetic alterations in the bone marrow of mice can cause a type of myeloproliferative syndrome, an overproduction of certain blood cells. The discovery may help find better therapies for these disorders, which can be difficult to treat, and also for some leukemias.
Researchers mapped the stiffness of bovine shin bone using a molecular force probe, revealing non-uniformity in bone's mechanical properties within a single region. The study's findings could lead to improved diagnoses and treatments of bone diseases, as well as the development of new materials with improved toughness.
A University at Buffalo study finds that IL-17, a primary cause of bone destruction in autoimmune diseases like rheumatoid arthritis, protects bones from infectious pathogens in the oral cavity. Researchers discovered that blocking IL-17's receptor increases susceptibility to periodontal disease.
Researchers at U of MN have discovered a treatment to halt disease progression in advanced ALD patients by combining NAC and transplant. This breakthrough offers new hope for devastating disease affecting young boys.
Researchers have discovered that mutations in the p62 gene are associated with abnormal bone cell development, but do not cause full-blown Paget disease. Meanwhile, a study found that GIP and GLP1R hormones influence energy levels beyond the pancreas, affecting brain cells, adipose tissue, and body weight.
A new study reveals a molecular mechanism underlying bone marrow failure in X-linked human disease, dyskeratosis congenita. Telomere maintenance defects are caused by reduced telomerase RNA, contradicting previous hypotheses about ribosome biogenesis.
A population-based study found that people with hand osteoarthritis had significantly shorter white cell telomere lengths compared to those without the disease. Telomere length was also associated with the severity of osteoarthritis, suggesting a link between biological ageing and degenerative inflammatory bone disease.
Researchers found a positive association between periodontal disease and coronary heart disease, particularly in individuals under 60 with significant alveolar bone loss. The study suggests that chronic infections and inflammatory responses from periodontal disease may contribute to the development of atherosclerosis.
A human study confirms that immune cells play a destructive role in periodontal disease. Researchers found that B cells and T cells produce RANKL, which induces osteoclasts and leads to bone loss.
Researchers have discovered a gene, matrilin-3, that prevents the onset of osteoarthritis in adult mice. The study reveals a correlation between matrilin-3 and osteoarthritis, suggesting potential diagnostic and predictive uses. Matrilin-3 plays a role in early bone development and controls bone mineral density in adulthood.
A team of researchers, including biological anthropologists and physicians, studied the relationship between the brain and skull in infants with craniosynostosis using CT scans and MRIs. They found a strong correlation between neural structures located near the top of the brain and bony features at the base of the skull.
Researchers found that Resolvin E1 provided remarkable protection against soft tissue and bone loss associated with gum disease. The study supports the concept that inflammation is a good therapeutic target in the treatment of periodontal disease.
A study identified osteopontin as a protein more prevalent in lungs of patients with idiopathic pulmonary fibrosis. The protein increased cell proliferation and movement involved in lung fibrosis, offering potential new treatment targets.
Researchers have identified a regulatory element within the 52-kilobase deletion region responsible for Van Buchem disease. This discovery provides strong causal evidence linking the deletion to the disease and opens up new avenues for understanding bone formation and potentially developing therapeutic agents.
A new electronic exhibit developed by Andrea Walker and Vesna Kriss aims to help radiologists confidently diagnose child abuse using imaging techniques. The exhibit highlights red flags such as fractures in different stages of healing, posterior rib fractures, and long bone fractures in children who are not walking.
Researchers at Imperial College London have discovered a link between chromosome 'caps' and the prediction of rare bone marrow diseases. The study found that shorter telomeres in chromosomes can indicate an increased risk of disease severity and early onset, providing a potential new mechanism for understanding disease anticipation.
Scientists give mice with damaged kidneys injections of BMP-7 to prevent adynamic bone disorder, a condition causing weakening and distortion of bones. The treatment is shown to be effective in normalizing bone cell counts and structures.
A 12-month study comparing FOSRENOL and calcium carbonate found that FOSRENOL led to a 'considerably better outcome' on bone histology, with halved rates of patients with osteomalacia, adynamic bone disease, or hyperparathyroidism. This contrasts with the calcium carbonate group, which showed an increase in these conditions.
A study found whole body MR imaging detected skeletal metastases in 80% of patients, outperforming bone scans in predicting complications like fractures. MR imaging also provided additional information about primary tumors and soft tissue metastases.
The National Institute of Arthritis and Musculoskeletal and Skin Diseases has awarded five new grants to researchers studying stem cells and their potential in treating various musculoskeletal diseases. These studies aim to investigate growth factors, muscle regeneration, connective tissue repair, bone disease treatment, and the develo...
A study of 16 patients with active multiple myeloma found that FDG PET scans accurately identified those at high risk, revealing disease spread outside the bone marrow. The scan also showed promise in identifying new disease sites for patients with relapsing disease, suggesting its potential as a complementary diagnostic tool.
A diagnostic scan called capromab pendetide immunoscintigraphy can detect recurrent disease if it is localized to the area of prior prostate surgery or has spread to other parts of the body. The study found that this imaging tool is more sensitive than CT and bone scans in identifying the site and extent of disease recurrence.
Researchers found osteopontin is present in higher levels in the brains of individuals with MS and mice models. Osteopontin's presence may accelerate disease progression, prompting efforts to block its effects.
Researchers at Stanford and UCSF have identified osteopontin as a key gene in the progression of multiple sclerosis, with findings suggesting its expression levels are related to disease severity. The study also revealed that osteopontin-deficient mice experienced significantly less severe symptoms and higher remission rates.
A public-private partnership has been launched to combat osteoarthritis, a chronic disease affecting millions of Americans. The Osteoarthritis Initiative will provide critical funding and resources for clinical research centers to establish natural history databases and biospecimen repositories.
Scientists at Princess Margaret Hospital have discovered the role of CD45 in regulating cellular signals and found that it acts as an 'off switch' to prevent diseases. The discovery could lead to targeted treatments for chronic diseases such as diabetes, cancer and heart disease by controlling the body's immune response.
Research findings indicate that viral infections can cause chronic vascular disease by establishing a protected niche within the elastic media of large arteries. This 'immunoprivilege' allows viruses to evade the immune system, leading to destructive arteritis and inflammation.
A study of 705 individuals found that cigar and pipe smokers have nearly three times the prevalence of moderate to severe periodontitis as non-smokers, with an average of four missing teeth. Smoking cessation efforts are crucial for improving periodontal health and preventing tooth loss.
A recent Penn study reveals that bone is actively involved in the process of sinus disease, confirming a link between bone involvement and disease spread and chronicity. The study suggests that removal of bony partitions during endoscopic sinus surgery may be crucial for effective treatment.
Researchers at Indiana University School of Medicine isolated the gene responsible for autosomal dominant hypophosphataemic rickets, a rare disorder affecting bone development. The discovery was made possible by using online resources from the Human Genome Project, paving the way for potential new therapies.
A new molecular diagnostics laboratory at Virginia Tech aims to investigate the genetic foundations of disease in horses and its implications for humans. The lab will focus on four major projects, including studying environmental toxins, COPD, osteoarthritis, and diabetes-related complications.
A University at Buffalo study has found that people with severe gum disease are twice as likely to suffer a stroke due to blocked arteries. Periodontal disease was associated with an increased risk for cerebrovascular events, particularly non-hemorrhagic strokes.
The University of North Carolina School of Medicine has received a $5 million federal grant to investigate ANCA vasculitis, a disease causing small blood vessel inflammation. Researchers will explore the cause of the disease and develop better treatments.