Menkes' disease is a fatal illness caused by copper deficiency, affecting male infants typically, causing death by age 3. Researchers now study the normal function of the gene involved in development and what causes its absence or defect., The disease is named for John Menkes who first described it at Columbia University in 1962.
Researchers at Whitehead Institute identify a new gene, IBD5, on chromosome 5 that increases susceptibility to Crohn's disease. The study provides a strong case for building a haplotype map of the human genome, which could make finding disease-causing genes faster and cheaper.
Peptide-T, a synthetic compound, prevents HIV from entering healthy human cells by adhering to specific cellular receptors. This new mechanism of action offers an alternative to existing protease inhibitors, which can develop resistance and cause harmful side effects.
A study published in Environmental Health Perspectives found that iron-deficient children have significantly higher blood lead levels than those with normal iron levels. The researchers, led by Asa Bradman, tested blood samples from 319 Sacramento-area children and found an average blood lead level of 5.6 micrograms per deciliter in ir...
A second gene mutation for the inherited form of ALS has been discovered by Northwestern University researcher Teepu Siddique. The newly identified gene, alsin, is responsible for juvenile inherited ALS (ALS2), a rare and slowly progressive disease affecting young populations in North Africa and the Middle East.
A study published in The Journal of Nuclear Medicine found that FDG PET detected recurrent thyroid cancer 50% more often than conventional imaging, leading to changes in clinical management for almost 80% of patients. The PET scan identified additional tumor sites and distant metastases, improving patient outcomes.
Researchers have pinpointed the cause of thrombotic thrombocytopenic purpura (TTP), a deadly inherited blood-clotting disorder, as mutations in the ADAMTS13 enzyme gene. The study suggests that administering an active form of the enzyme could be a treatment option for TTP.
The National Institutes of Health has awarded $45 million to establish Biomedical Research Infrastructure Networks (BRINs) in 23 under-funded states and Puerto Rico. These grants will enable institutions to develop areas of potential research, improve laboratory equipment, and recruit new faculty members.
A team of psychologists studied 1024 laughter episodes from young adults watching funny video clips. They found interesting sex differences in laugh types and pitches, with women producing more song-like laughs than men. Laughter is surprisingly high-pitched, with some laughs reaching frequencies of over 2,000 Hz.
Researchers found that brain natriuretic peptide (BNP) levels are better at predicting adverse outcomes compared to traditional methods. Elevated BNP levels identified patients at high risk of dying or developing heart failure, even in those with no detectable heart damage.
A recent study found that physicians often avoid discussing spirituality with patients due to concerns about opening Pandora's box. Despite 78% believing in a connection between religion and health, only 8% have discussions with patients on spiritual topics.
Researchers are using airborne laser swath mapping and ground-based scanning laser technology to gather precise 3D data of the affected areas. The UF-led team aims to detect any damage to the foundation and assess structural integrity.
Researchers at Northwestern University have developed a new imaging method that uses high-temperature superconductors to improve Magnetic Resonance Imaging (MRI) technologies. The breakthrough, led by Professor William Halperin, enables the study of superconducting vortices in tiny crystals with unprecedented spatial resolution.
A recent study by Imperial College London has provided insights into the Foot and Mouth epidemic in Great Britain, revealing that large farms with many animals are more infectious and susceptible to disease. The analysis also highlights fragmented farms as a significant risk factor for transmission.