Nine diseases have been nominated to an HHS advisory committee as possible additions to newborn screening programs. Only two have won the committees approval.
But R. Rodney Howell, the chair of the committee, tells the Health Blog that hed like to see at least one of the conditions that was initially turned down be re-nominated: Pompe disease, a rare genetic disorder involving a missing or insufficient enzyme.
The gene, called SorCS1, controls the generation of amyloid-beta (Abeta) in the brain. Abeta plays a key role in the development of Alzheimers disease. The researchers previously linked SorCS1 to Alzheimers disease and identified where the molecules lived in the cell, but not how they control Abeta. The new data were presented today at the Alzheimers Associations Annual International Conference in Paris.
Sam Gandy, MD, PhD, the Mount Sinai Professor in Alzheimers Disease Research, Professor of Neurology and Psychiatry, and Associate Director of the Alzheimers Disease Research Center at Mount Sinai School of Medicine, led the research team with Rachel Lane, PhD, a postdoctoral researcher in Dr.
A study on coronary heart disease has found that family doctors misdiagnose patients as not having CHD.
Of the 180 patients in the study, 31.7 percent had originally been misdiagnosed.
When a patient presents with chest pain as the main symptom, the family doctor has to decide whether immediate action is called for or whether watchful waiting is an option.
In this diagnostic cross-sectional study Stefan Bosner and his colleagues evaluated the data of a total of 1249 patients over the age of 35 years who presented to 74 participating family doctors with chest pain.
From this data pool, Bosner and colleagues extracted the doctors’ initial suspected diagnosis in respect of coronary heart disease (CHD).
In a total of 57 patients the doctor wrongly suspected another cause than CHD for the chest pain.
Nevertheless, the family doctors still referred one in three of the patients given such a false negative diagnosis to a cardiologist.
In view of the number of missed cases of CHD, there is an argument for considering a diagnosis of CHD in patients with less pronounced symptoms.
However, the researchers believe that if the “diagnostic threshold” were to be lowered, the result would be a dramatic rise in false positive diagnoses.
The results have been published in the current edition of Deutsches Arzteblatt International.
Scientists have come a step closer to finding out what the causes of Alzheimers disease are.
Recently the number of genes known to be associated with Alzheimers disease has increased from four to eight, including the MS4A gene cluster on chromosome 11.
New research has expanded on this using a genome-wide association study (GWAS) to find a novel location within the MS4A gene cluster, which is associated with Alzheimers disease.
Alzheimers disease is the most common cause of dementia in the developed world.
Scientists have found that early life adversity through poverty, social isolation or abuse in childhood is linked to heightened reactivity, which can lead to heart disease later on.
“Many diseases first diagnosed in mid-life can be traced back to childhood,” said Karen A. Matthews, a professor of psychiatry and epidemiology at the University of Pittsburgh.
“Having some bad health habits in your 20s and 30s is part of the reason why people get diseases later on. However, it isn”t the whole reason. The evi