Phenotype News and Research

RSS

Bronchiectasis finding reveals COPD patients at mortality risk

Bronchiectasis is independently associated with mortality risk among patients with moderate-to-severe chronic obstructive pulmonary disease, Spanish research shows.

12 Feb 2013

Combined genomic and proteomic plasma analysis can identify molecular disease mechanisms

For the first time, scientists have combined genomic and proteomic analysis of blood plasma to enhance identification of genetically regulated protein traits. This could be applied to any large association study of civilization diseases where blood plasma has been collected, vastly improving a clinician's ability to identify disease susceptibility in individuals and populations.

11 Feb 2013

Migraine, epilepsy and genetics: an interview with Dr. Melodie Winawer

This work is the product of an extraordinary consortium called the Epilepsy Phenome/Genome project (EPGP). It is a consortium of 27 centres in the U.S. and internationally with several hundred physicians and staff who have worked together to enrol more than 4000 patients with epilepsy and their family members.

7 Feb 2013

Tumor suppressor mutant may predict poor outcome in breast cancer

An oncogenic variant of the Krüppel-like family 6 tumor suppressor gene appears to play a role in driving breast cancer metastasis and may be a prognostic marker for poor patient outcome, report researchers.

6 Feb 2013

Study investigates R1441G mutation of Parkinson's disease

A team from the UPV/EHU-University of the Basque Country came across a mutation of the LRRK2 gene in 2004, which is particularly prevalent among the population of Gipuzkoa. It is the R1441G mutation and is known as the Basque mutation.

1 Feb 2013

High-frequency oscillatory ventilation put on hold

Findings from two trials suggest that high-frequency oscillatory ventilation does not help, and may even harm patients with acute respiratory distress syndrome.

29 Jan 2013

NIH panel recommends name change for polycystic ovary syndrome

An independent panel convened by the National Institutes of Health has concluded that the name of a common hormone disorder in women, polycystic ovary syndrome (PCOS), causes confusion and is a barrier to research progress and effective patient care. The current name focuses on a criterion - ovarian cysts - which is neither necessary nor sufficient to diagnose the syndrome.

24 Jan 2013

Scientists determine structure of Ltn1 protein

Using an innovative approach, scientists at The Scripps Research Institute (TSRI) have determined the structure of Ltn1, a recently discovered "quality-control" protein that is found in the cells of all plants, fungi and animals.

17 Jan 2013

Iris nevi have ‘low’ malignant potential

The malignant transformation rate for iris nevi is 8% over 15 years, a case series by US researchers has found.

15 Jan 2013

Minor mutations can lead to big improvements in antibiotic resistance

Rice University scientists have found that mutations of small effect can turn out to be game changers in the bacterial fight against antibiotic drugs.

10 Jan 2013

BMI mortality link questioned

Patients classified as overweight according to body mass index have a lower risk for mortality than normal-weight patients, show the results of a systematic review.

4 Jan 2013

Study suggests genetic component in pain response among children

At least two common gene variants are linked to "clinically meaningful" differences in pain scores in children after major surgery, reports a study in the January issue of Anesthesia & Analgesia, official journal of the International Anesthesia Research Society (IARS).

25 Dec 2012

Human nociception genes mapped out

Researchers have uncovered a “network map” of genes that are involved in pain perception, which they say may help identify new analgesic drugs.

17 Dec 2012

18FDG–PET–CT improves breast cancer staging

A prospective study has shown fluorodeoxyglucose positron emission tomography/computed tomography to be a powerful tool for the detection of nodal and distant metastatic disease in patients with breast cancer.

17 Dec 2012

LSUHSC to advance research on social, genetic, environmental and behavioral determinants of future obesity

Melinda Sothern, PhD, CEP, Professor and Director of the Behavioral and Community Health Sciences Program at LSU Health Sciences Center New Orleans School of Public Health, has been awarded $675,000 in grant funding to advance her research on the role of social, genetic, environmental and behavioral determinants of future obesity.

7 Dec 2012

Adiponectin level may underpin atherogenic haptoglobin phenotype

Researchers have suggested an active role for adiponectin in the pathophysiology of vascular disease in patients with diabetes, which depends on their haptoglobin phenotype.

7 Dec 2012

ADHD comorbidity confounds brain findings in bipolar disorder

Structural brain abnormalities found in patients with bipolar disorder may have been wrongly attributed to the condition and in fact be associated with comorbid attention–deficit hyperactivity disorder, US researchers believe.

7 Dec 2012

Adiponectin level may underpin atherogenic haptoglobin phenotype

Researchers have suggested an active role for adiponectin in the pathophysiology of vascular disease in patients with diabetes, that depends on their haptoglobin phenotype.

4 Dec 2012

Innovative stem cell technique for heart tissue revealed

Researchers have found that stem cell cultures infused with growth factors could be used to repair damaged heart tissue without the threat of patient rejection.

3 Dec 2012

Study examines role of inflammation in chronic fatigue syndrome

A new study published in the current issue of Psychotherapy and Psychosomatics has examined the role of inflammation in chronic fatigue syndrome, a disorder that affects many people and does not seem to have an explanation that is likely to yield satisfactory treatment.

1 Dec 2012