Molecular geneticists have characterized gene mutations in families with pseudoxanthoma elasticum (PXE), a rare inherited disorder that can lead to blindness, early heart attacks, and cardiovascular disease. The study provides the basis for DNA-based carrier detection, prenatal testing, and improved diagnosis of the condition.
A study presented at the American Academy of Neurology's annual meeting found that sudden falls among the elderly can be related to an overlooked inner ear disorder. Successful treatments are often available once the correct diagnosis is made, with excellent surgical success rates in older individuals.
Researchers at Schepens Eye Research Institute have found that the HMG I-C gene causes tumors called lipomas in fat tissue, which can become malignant. The study suggests targeting this molecule could be useful for treating obesity and lipoma-related cancers.
The FDA has approved Visudyne therapy for the treatment of wet form of age-related macular degeneration (AMD), a leading cause of blindness among people over 50. The therapy involves a two-step procedure that can be performed in a doctor's office, causing closure of abnormal blood vessels and potentially restoring central vision.
Glaucoma is now understood as a neurodegenerative disease affecting the entire visual system, including brain cells. Researchers found that forty percent of nerve cells in both eye and brain are destroyed by the disease.
A new cost analysis at Duke University Medical Center found that comprehensive heart failure teams can reduce healthcare costs by over one-third. By shifting care to outpatient visits, these teams improve the effective use of medications, particularly newer agents, leading to a 37% decrease in total treatment costs.
Patients with macular degeneration experienced improved moods and increased use of visual aids after completing a six-week behavioral self-management program. The program also boosted confidence in daily functioning and reduced symptoms of anxiety and depression.
Researchers suggest that a significant majority of people with type 2 diabetes derive little additional benefit from annual eye screening. Instead, every other year or even every third year screening is nearly as beneficial and more cost-effective. This finding could lead to a shift in recommendations for optimal screening intervals.
Researchers have discovered a naturally occurring animal model of subretinal neovascularization, a component of age-related macular degeneration in humans. The Bst mouse develops abnormal blood vessel growth beneath the retina, similar to human ARMD, providing insights into disease mechanisms and potential therapeutic targets.
A recent study found that nearly one-third of patients with suspected stroke symptoms were not properly diagnosed or treated by their primary care physicians. The researchers emphasize the need for urgent evaluation and prevention measures to reduce stroke risk, as these early symptoms can predict future events.
Researchers at Johns Hopkins and CIBA Vision Corp. have identified a natural chemical substance responsible for blinding blood vessel growth in patients with diabetic retinopathy. The study found that blocking this substance can completely stop abnormal vessel growth, offering new potential treatments for the condition.
Researchers found that controlled amounts of supplemental oxygen do not worsen retinopathy of prematurity in premature infants. However, the study suggests that it may help prevent the disease's progression to severe stages, potentially reducing the need for invasive surgery and long-term side effects.
Researchers successfully demonstrated the effectiveness of a new oral form of ganciclovir to treat CMV retinitis, a blinding disorder that affects AIDS patients. The experimental valganciclovir offers a simpler treatment option with fewer pills needed per day.
AIDS patients with CMV in their blood are at increased risk of death, a new study suggests. The study found that 90% of UNC's AIDS patients have CMV exposure, and those with detectable virus levels had an 11-fold increased risk of death.
Researchers have discovered the cause of enhanced S-cone syndrome (ESCS), a disorder that affects sensitivity to blue light and development of night blindness. Mutations in the photoreceptor gene NR2E3 were found in 94% of DNA samples from ESCS-affected individuals.
Harvard Medical School scientists identify protein p25 as a possible trigger for Alzheimer's disease by turning brain enzyme cdk5 into a menace. The study supports one of two major hypotheses explaining the complex condition, offering a new handle on underlying molecular pathways.
African Americans with diabetes who receive health education messages are more likely to seek an eye exam, increasing the rates of dilated eye exams. Early detection and treatment can prevent vision loss in people with diabetes, with about 90% preserving their vision.
A long phone call led to a temporary vision loss and difficulty speaking in a French psychiatrist due to an unusually long styloid process. The patient's brain angiogram revealed a tear in the internal carotid artery, a common cause of strokes in young adults.
Researchers found that highly active antiretroviral therapy (HAART) helped patients with CMV retinitis stop taking standard anti-CMV medications without progression. HAART also partially restored the immune system, allowing it to fight other serious infections.
Researchers found that 70% of Southeastern adults with Lyme-like symptoms were not infected with the standard Borrelia burgdorferi strain. Instead, a genetically variant strain was detected, which may be more responsive to antibiotic therapy and less virulent than traditional Lyme disease.
Yale researchers have developed an improved ELISA test to detect ehrlichiosis, a newly discovered tick-borne disease. The new test is more reliable and efficient than the old one, allowing for better surveillance of the disease in affected areas.
A Johns Hopkins-led study of over 600 patients with age-related macular degeneration (AMD) found that photodynamic therapy reduced vision loss risk by 67%, compared to 39% for those receiving a placebo. The treatment targets abnormal blood vessels and scar tissue, offering hope for slowing disease progression in selected patients.
A new device measures macular pigment to study its correlation with macular degeneration, the leading cause of blindness. The portable device uses LEDs and takes about 10 minutes to measure a patient's macular pigment levels.
Researchers found that atovaquone was 100% effective in keeping volunteers bitten by mosquitoes carrying Plasmodium falciparum from developing the disease. Pairing atovaquone with proguanil, an older malaria-fighting drug, provides protection while avoiding drug resistance.
A team of researchers has identified a single gene that causes familial advanced sleep phase syndrome (FASPS), a rare sleep disorder. The study found that the disorder follows a simple Mendelian inheritance pattern, making it easier to find the responsible gene and potentially leading to new treatments for circadian rhythm disorders.
A new study found that treating entire communities with oral antibiotic azithromycin effectively controls an infection causing widespread eye disease. The treatment reduces the number of infections by up to 90% compared to topical therapy, offering a promising solution for controlling trachoma in endemic areas.
A protein called PEDF has been shown to halt excessive blood vessel growth in the eye, potentially treating diabetic retinopathy and macular degeneration. Researchers found that increasing PEDF levels could slow vision deterioration and prevent new vessels from overgrowing.
Researchers have identified the molecule transported by Rim protein in photoreceptor cells, a key factor in the development of Stargardt's disease and age-related macular degeneration. By understanding this process, scientists may be able to develop new treatments to slow or prevent the progression of these diseases.
Researchers at Johns Hopkins Medicine have discovered a natural compound called pigment epithelium-derived factor (PEDF) that offers nearly complete protection against amyotrophic lateral sclerosis (ALS). PEDF is a potent neurotrophic factor that may significantly protect spinal motor nerves against injury.
A new study at Ohio University found that growth hormone is important in the development of Type I diabetes-induced kidney damage. The researchers induced Type I diabetes in mice and found that those with disrupted growth hormone receptors did not develop diabetic kidney disease.
A five-year ONR-sponsored initiative aims to investigate optical properties of the shallow ocean floor to enhance remote sensing and underwater imaging capabilities. The experiment will aid in mine detection and provide high-resolution maps of coral reef ecosystems, enabling easier disease spotting.
A new mathematical model suggests that annual antibiotic treatments will not be enough to eradicate trachoma in areas with high incidence rates. The model predicts that these areas, which account for only 10% of total affected regions, will experience a higher rate of blindness due to reinfection.
Dr. Stefan-M. Pulst will present five scientific sessions on spinocerebellar ataxia and a new brain tumor-discovery, expanding treatment options for neurodegenerative diseases. His team mapped a new gene SCA10 to chromosome 22, causing loss of gait and limb control.
Scientists have discovered a biochemical connection between presenilin and Notch, a protein controlling crucial aspects of developmental biology. This link may lead to new insights into the causes of Alzheimer's disease.
Researchers at the University of Rochester discovered that Alzheimer's patients suffer from motion blindness, a condition where they struggle to interpret visual cues, leading to disorientation. This can be a significant factor in their daily lives, including driving and navigating familiar environments. The study's findings may lead t...
Researchers link Fas and FasL interaction to immune-privilege in the eye, affecting age-related macular degeneration. Deficiency of Fas or FasL leads to increased growth of new retinal vessels.
A new retinal birefringence scanner can measure eye fixation independent of head position, allowing doctors to diagnose amblyopia in young children. The device has the potential to revolutionize communication and daily living for people with disabilities.
Scientists used adaptive optics technology, originally developed for spy satellites, to map out the topography of the inner eye and take unprecedented photographs of retinas. The results show a random arrangement of cones, which could help diagnose and treat diseases like blindness.
A recent study examining 19,842 white male twins found that genetic factors do not play a significant role in causing the most common form of Parkinson's disease. Instead, undetermined environmental factors are believed to trigger typical PD, particularly among those diagnosed after age 50.
Researchers at Columbia University synthesized a derivative of vitamin A that accumulates with age in human eyes and may contribute to macular degeneration. The new synthesis allows for large-scale production of the compound, enabling further experiments to pinpoint its relationship with age-related changes in the retina.
Researchers have identified a previously unknown light-sensitive pigment in the eye, skin, and brain that regulates mammals' internal clocks. This discovery has significant implications for treating depression and reducing accidents during night work shifts, as it allows for better synchronization with daily cycles.
Researchers have designed a new genetic weapon called ribozymes to treat inherited human blindness by slowing the progression of retinitis pigmentosa. The treatment targets the autosomal-dominant form of the disease and has shown significant protection of eye cells in lab rats.
A recent study at the University of Pennsylvania School of Medicine reveals that proteins fold through a series of pre-determined, intermediate arrangements. This process allows proteins to correct mistakes quickly and prevent aggregation, which is crucial in fighting diseases like Alzheimer's.
Researchers have successfully used gene therapy to slow down neurodegeneration in an animal model, offering hope for treatments of autosomal dominant disorders. The approach involves using ribozymes to destroy faulty messenger RNA, potentially treating conditions like Huntington's disease and ALS.
Researchers have found that the ATM protein, mutated in A-T, acts as a key regulator of cell division after DNA damage, leading to increased cancer risk. The study provides new insights into how cells form tumors and may lead to new treatments for A-T and other neurological disorders.
Researchers have successfully released nerve growth factor (NGF) via pea-sized pellets implanted in test animal brains, which showed improved health. This breakthrough treatment could potentially help treat Alzheimer's disease and other neurological disorders.
Researchers at Oregon Health Sciences University have identified a genetic cause for age-related macular degeneration, the leading cause of blindness in the US. A large family study revealed a specific gene location on chromosome 1q25-q31, offering hope for future treatments and preventative measures.
A gene defect has been identified as causing a form of hereditary blindness, retinitis pigmentosa. The discovery links the disease to a malfunction of the cytoskeleton, which forms the skeleton of cells and affects internal transport and cell division.
Researchers have found that acyclovir significantly reduces the number of recurrences of ocular herpes disease, a condition affecting 400,000 Americans each year. The study identified patients who would benefit most from long-term acyclovir treatment and showed the drug has few side effects.
A University of Florida neuroscientist has discovered a mutant gene in chickens that helps researchers better understand a rare human eye disease called Leber's congenital amaurosis type I. The chicken model is being used to develop a form of gene therapy for treating the disease, which affects 100,000 to 200,000 people worldwide.
Researchers at UNC Health Care have discovered two proteins, CRY1 and CRY2, which help regulate circadian rhythms. These proteins were found in layers of the retina not involved in forming visual images, and their presence may help set the daily clock from sites in skin cells.
Researchers have discovered a new light-sensitive pigment called cryptochrome, which controls the circadian rhythm in mammals, regulating bodily functions such as body temperature and blood pressure. The discovery may lead to better treatment for depression and reduce accidents during late-night shifts.
The Rockefeller study aims to identify genetic causes of early- and late-onset type 2 diabetes to develop better diagnostic tools and improved drug therapies. The researchers seek individuals with type 2 diabetes and at least one affected family member to participate in the study.
University of Iowa researchers have shed light on the mysteries of metastasis by studying uveal melanoma, a potentially blinding and fatal form of cancer. They found that abnormal proteins respond to hepatocyte growth factor/scatter factor, attracting blood vessels and causing cancer cells to spread.
Researchers at Cornell University have discovered a genetic correlation between dog blindness and a similar human disease, potentially leading to new treatments for human eye disorders. The study identifies the canine version of the human RP17 gene defect, which could lead to gene therapy methods for both dogs and humans.
Researchers at TSRI uncover a natural mechanism that regulates angiogenesis, a process involved in cancer growth. A recombinant protein fragment, PEX, is developed to block angiogenesis and tumor growth in an experimental model, offering a potentially novel therapeutic approach.
Researchers at the University of Florida found that urban development in Florida is increasing the spread of Upper Respiratory Tract Disease among gopher tortoises. The disease destroys respiratory and olfactory senses, leading to malnutrition and starvation.
Researchers at Thomas Jefferson University have developed a non-invasive gamma knife treatment that shows comparable results to surgery in alleviating Parkinson's disease symptoms. The treatment uses high doses of radiation to destroy targeted areas of the brain, potentially offering an alternative to traditional surgical options.
A new study by the University of Georgia has found a significant increase in disease incidence among Florida's coral reefs, with 211% more coral species affected. The researchers are stymied in understanding the causes of these devastating losses, which threaten the entire reef ecosystem.
Researchers found that combining ganciclovir eye implants with oral ganciclovir reduces the risk of new CMV disease, Kaposi's sarcoma, and extraocular complications in AIDS patients. The study also showed a delay in median survival time among those receiving combined therapy.