A new test using DNA sequencing identifies single mutations causing rare genetic disorders in children, improving diagnosis rates from 5% to 40%. The UCLA Clinical Genomics Center uses the test to provide concrete diagnoses and treatment plans for families seeking answers.
A study released by the American Academy of Ophthalmology found that an implantable corneal inlay device improved near vision well enough for 80% of patients to read a newspaper without affecting far distance vision. The device is currently undergoing clinical review in the US and has shown promising results with minimal complications.
A new smartphone-based tool has been developed to monitor diabetic eye disease, offering comparable results to traditional equipment. The tool, called D-Eye, uses a small optical adapter that attaches magnetically to an iPhone and enables ophthalmologists to evaluate the severity of the disease.
A study of 2,000 patients found whole-exome sequencing to be an effective diagnostic tool, identifying genetic mutations in 25% of cases. The technique was particularly useful for rare genetic events and new mutations contributing to disease.
A recent study found that a region of the genome associated with autism contains genetic variation that evolved in the last 250,000 years, likely playing an important role in disease. This variation is characterized by segments of DNA being deleted or duplicated, a common cause of autism and other conditions.
Researchers have discovered naturally occurring asbestos in Boulder City, Nevada, posing a risk to local residents. The fibrous minerals were found in areas not previously considered at risk, highlighting the need for further investigation into their occurrence and toxicity.
Research finds vitamin D deficiency significantly increases poor brain function and mortality after cardiac arrest. Patients with low vitamin D levels had a sevenfold higher chance of poor neurological outcome and nearly one-third died within six months.
Research suggests that pathological gamblers have a different response to the brain's opioid system, resulting in reduced feelings of euphoria compared to healthy individuals. This altered response may contribute to the addictive nature of gambling.
The European College of Neuropsychopharmacology awards Dick Swaab with the 2014 ECNP Media Award for his book 'We are our Brains'. The award recognises outstanding contributions to destigmatising disorders of the brain. Swaab's work aims to promote a better understanding of brain function and its impact on mental health.
Research found that people born in summer months have a higher chance of developing cyclothymic temperament, characterized by rapid mood swings, compared to those born in winter. Additionally, summer births are associated with a higher incidence of hyperthymic temperament, which is linked to an increased risk of mood disorders.
Researchers successfully used an iPhone application to image the inside of the eye, including in pediatric and immobile patients. The iExaminer system is a portable, inexpensive tool for fundus photography and videography, offering potential for prompt telemedicine consultations with an ophthalmologist.
A new test called trio-CES, which sequences the whole exome of the affected individual and both parents simultaneously, was associated with a significantly higher molecular diagnostic yield (31%) compared to proband-CES (22%). In cases of developmental delay in children, trio-CES had a diagnosis rate of 41% compared to 9% for proband-CES.
A study found that aging and depression are associated with increased expression of the FKBP5 gene, linked to inflammation and cardiovascular risk. This epigenetic change may contribute to the development of age-related diseases.
Researchers from Baylor College of Medicine have made significant breakthroughs in whole exome sequencing, confirming a molecular diagnosis in 25% of patients and identifying rare genetic events as major contributors to disease susceptibility. The technology is expected to revolutionize the field of pediatrics and medicine.