Articles tagged with Bone Diseases
Researchers used protein sequence-based methods to diagnose an ancient and atypical form of Paget's disease in medieval skeletons. The study found extensive pathological changes, high disease prevalence, and low age-at-death estimations for affected skeletons.
Researchers found that a stem niche in the growth plate produces infinite numbers of cells, changing the concept of growth and potential treatment methods. The discovery may explain cases of unconstrained growth and provide new approaches to treating children with growth disorders.
A study found that just 45 minutes of patient education can significantly improve patients' attitudes and abilities in self-managing their chronic care. Patients reported increased confidence and reduced emotional distress after the brief instruction.
Scientists developed zebrafish with genetic mutations to study Saethre-Chotzen syndrome, a common form of craniosynostosis. The study revealed abnormal stem cell development leading to premature suture fusion and disrupted skull growth.
A study by St. Jude Children's Research Hospital and UCSF identified germline mutations in the genes SAMD9 or SAMD9L as responsible for a rare bone marrow disorder, myelodysplasia and leukemia syndrome with monosomy 7. The research found that some children with these mutations can spontaneously recover normal bone marrow function witho...
A study published in The Spine Journal found that one-third of people aged 40-59 have image-based evidence of moderate to severe degenerative disc disease. Additionally, the prevalence of spinal osteoarthritis increased significantly with age, particularly among women.
Researchers have discovered nine new genes associated with osteoarthritis, a degenerative disease causing joint damage and pain. The findings could lead to the development of targeted therapies for this debilitating condition, affecting 10 million people in the UK.
Researchers develop bone marrow models to study hematological and musculoskeletal disorders, focusing on regeneration and disease disturbance. The project aims to understand the relationship between blood and bone, leading to new regenerative therapies.
A recent Harvard University study reveals that knee osteoarthritis has dramatically increased in prevalence over the past 70 years, affecting an estimated one-third of Americans over 60. The research challenges the long-held assumption that osteoarthritis is simply a wear-and-tear disease related to aging and obesity.
A new study identifies key genes linked to the Galapagos cormorant's loss of flight, which shares similarities with human developmental disorders. The research suggests that shorter wings may have been advantageous during diving, reducing buoyancy and increasing survival.
Long-term bisphosphonate therapy for Paget's disease of bone found no significant clinical benefits, increasing fracture risk instead.
A new method of evaluation, using the cephalic width-intercoronal distance ratio, has been recommended to help determine when surgical intervention is needed for infants with fused cranial sutures. This measurement indicates a potential need for surgery in cases where the front and back of the skull are not proportionate.
A research team has identified mutations responsible for midline craniosynostosis, a type of skull-fusion disorder that affects the top of the skull. The study found that rare genetic variants in one gene interact with common changes near another gene to cause the disorder.
Brendan Lee receives 2016 Curt Stern Award for his groundbreaking work on human inborn errors of metabolism and structural birth defects of the skeleton. The award recognizes his significant scientific contributions over the past decade, including identifying genetic causes of chrondrodysplasia and Marfan syndrome.
A preclinical study shows that palovarotene, a repurposed drug, inhibits extra bone growth and preserves normal skeletal bone growth in mice with fibrodysplasia ossificans progressiva (FOP). The drug balances the effects of the FOP mutation, effectively restoring near-normal growth.
Researchers found no association between cesarean delivery and lower at-birth fracture rates in infants with osteogenesis imperfecta. The study, involving 540 patients, used large sample size to evaluate multiple covariates, revealing no differences in fracture rates based on delivery method.
Researchers investigate how mechanical loading affects bone strength and disease-related fragility by studying collagen's biological mechanism. The study aims to deliver new understanding of mechanically-induced adaptation in bone and provide ways to target bone disease through collagen modulation.
A study at Loyola University Medical Center found that knee replacements can treat degeneration caused by Blount disease, resulting in stable knees and no pain medications. Researchers used a scoring system to evaluate the success of the surgery, with mean scores indicating excellent range of motion and low disability.
Researchers will investigate coronal nonsyndromic craniosynostosis, a common birth defect causing facial and cranial dysmorphology. The study aims to identify new genes and networks driving this condition and develop a predictive computational model of head growth.
Researchers have identified a key role for Gli1+ stem cells in skull development and facial bone repair. Transplanting these stem cells into injured areas may help restore normal anatomy and facilitate brain growth, offering potential treatment options for infants with craniosynostosis and patients with facial disfigurement.
Researchers tracked over 2,500 Newark children to chart the progression of localized aggressive periodontitis, a genetic disease affecting 2% of African-American adolescents. The study aims to pinpoint biological markers in saliva that can predict bone loss and identify affected teeth.
The NIH has awarded $29 million to expand the Rare Diseases Clinical Research Network, a collaborative effort of physician scientists and patient advocacy groups. This funding will support clinical research and investigation of new treatments for patients with rare diseases, with a focus on improving diagnosis and treatment outcomes.
A study by St. Jude Children's Research Hospital found that dietary changes can alter the intestinal microbiome and susceptibility to autoinflammatory bone diseases. Researchers discovered that certain gut bacteria, such as Prevotella, fuel inflammation when fed a diet high in nutrients.
A new study published in Clinical Gastroenterology and Hepatology found that thiopurine therapy for inflammatory bowel disease (IBD) may increase the risk of myeloid disorders, including acute myeloid leukemia. The study analyzed data from over 19,000 IBD patients and found a seven-fold increased risk among those taking thiopurines.
Research found that one in three female triathletes suffer from urinary incontinence, bowel incontinence, or pelvic organ prolapse. High-impact sports like triathlon training can lead to decreased energy, menstrual irregularities, and abnormal bone density due to inadequate nutrition.
This review discusses four key physiologic processes in bone/tooth formation affected by rare bone diseases. The authors highlight causative mutations, etiopathology, and treatments for conditions like fibrous dysplasia, osteogenesis imperfecta, and hypophosphatasia.
Researchers developed a new way to study bone disorders and bone growth using stem cells from patients with a rare genetic bone disease. The approach identified a cellular mechanism driving abnormal bone growth and found chemicals that can slow it, potentially guiding future drug development.
Researchers discovered that Porphyromonas gingivalis produces an enzyme that enhances collagen-induced arthritis, leading to earlier onset and greater severity of rheumatoid arthritis. The bacteria worsens joint destruction by changing proteins into citrulline, triggering an immune attack.
Researchers at the University of Sheffield have developed a new treatment for children with brittle bone disease, finding that oral risedronate significantly reduces the risk of fractures. The study showed rapid action, with curves for fracture risk diverging after just 6 weeks of treatment.
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.