Health News

In the journal Genes & Development, Dr. Karen Oegema (UCSD) and colleagues identify the molecular basis of the lethal developmental disorder, hydrolethalus syndrome, and reveal that hydrolethalus syndrome actually belongs to the emerging class of human ciliopathy diseases.


"5 years ago a human genetics study linked Hydrolethalus syndrome to a mutation in a protein named HYLS1. Since this discovery the function of HYLS1 has remained unknown. Our work solves this mystery, showing that HYLS1 is a centriolar protein required for the formation of cilia, small hair-like cellular projections that execute a variety of essential motile and sensory functions," explains Dr. Oegema.

Hydrolethalus syndrome is a rare genetic disorder characterized by severe birth defects (hydrocephalus, polydactyly, cardio/pulmonary malformations) that result in stillbirth or early neonatal death. The majority of cases affect people of Finnish ancestry, where the incidence is roughly 1 in 20,000. Ten years ago it was discovered that hydrolethalus syndrome results from mutations in the HYLS1 gene, located on the long arm of chromosome #11.

Dr. Oegema and colleagues now show that the evolutionarily conserved HYLS1 protein is, in fact, a centriolar protein that is specifically required for cilia formation in both C. elegans and vertebrates. The researchers demonstrated that HYLS-1 stably incorporates into centrioles during their assembly, and plays a crucial role in the early step steps of the ciliogenesis pathway. Interestingly, however, HYLS-1 is dispensable for centriole assembly and centrosome function during cell division.

Their work expands the range of previously recognized human ciliopathies – which vary from polycystic kidney disease to male infertility and obesity – and establish hydrolethalus syndrome as one of the most severe ciliopathies identified to date.


http://www.cshl.edu/

Research undertaken by the Universities of Reading, Cardiff and Bristol has found that drinking milk can lessen the chances of dying from illnesses such as coronary heart disease (CHD) and stroke by up to 15-20 %.
In recent times milk has often been portrayed by the media as an unhealthy food. The study, led by Professor Peter Elwood (Cardiff University) together with Professor Ian Givens from the University of Reading’s Food Chain and Health Research Theme, aimed to establish whether the health benefits of drinking milk outweigh any dangers that lie in its consumption.

Importantly, this is the first time that disease risk associated with drinking milk has been looked at in relation to the number of deaths which the diseases are responsible for.

The review brought together published evidence from 324 studies of milk consumption as predictors of coronary heart disease (CHD), stroke and, diabetes. Data on milk consumption and cancer were based on the recent World Cancer Research Fund report. The outcomes were then compared with current death rates from these diseases.

Professor Givens explained: “While growth and bone health are of great importance to health and function, it is the effects of milk and dairy consumption on chronic disease that are of the greatest relevance to reduced morbidity and survival. Our review made it possible to assess overall whether increased milk consumption provides a survival advantage or not. We believe it does.

“Our findings clearly show that when the numbers of deaths from CHD, stroke and colo-rectal cancer were taken into account, there is strong evidence of an overall reduction in the risk of dying from these chronic diseases due to milk consumption. We certainly found no evidence that drinking milk might increase the risk of developing any condition, with the exception of prostate cancer. Put together, there is convincing overall evidence that milk consumption is associated with an increase in survival in Western communities.”

The reviewers also believe that increased milk consumption is likely to reduce health care costs substantially due to reduced chronic disease and associated morbidity.

“There is an urgent need to understand the mechanisms involved and for focused studies to confirm the epidemiological evidence since this topic has major implications for the agri-food industry,” added Professor Givens.

http://www.rdg.ac.uk/

A new DNA vaccine inhibited malignant melanoma, a deadly form of skin cancer, in mice by eliciting antibodies that target a gastrin-releasing peptide which is known to play a key role in cancer development.
Gastrin-releasing peptide (GRP) is an important human peptide that regulates gastric acid secretion and motor function as well as elicits gastrin release. Previous research has shown that GRP plays a significant role in human cancers through atypical expression of the GRP receptor and GRP binding that activates cellular signaling and results in increased cell production and tumor formation. Anti-GRP antibodies have displayed promising antitumoral activity and DNA vaccines targeting GRP are a hopeful therapeutic approach.

In the study researchers developed a novel anti-GRP DNA vaccine including various immunoadjuvants (substances to improve the immune response) and monitored anti-GRP antibody levels in vaccinated mice. Intramuscular injections induced high levels of specific antibodies against GRP as well as suppressed the growth of melanoma cells. Additionally, researchers intravenously injected cells in the lungs and found that cells were highly diminished indicating that the vaccine may also inhibit cancer from spreading.

"In conclusion, we have demonstrated for the first time that immune responses which are elicited by a novel anti-GRP DNA vaccine suppress the proliferation and growth of melanoma tumors in mice," say the researchers. "The antiangiogenesis and antimetastastic activities of this DNA vaccine suggest a novel approach against various cancers, especially malignant melanoma."


http://www.asm.org/

Investigators from Hospital for Special Surgery have shown that a biodegradable scaffold or plug can be used to treat patients with damaged knee cartilage. The study is unique in that it used serial magnetic resonance imaging (MRI) and newer quantitative T2 mapping to examine how the plug incorporated itself into the knee.


The research, abstract 8372, was presented during the annual meeting of the American Orthopedic Society for Sports Medicine, June 9-12, in Keystone, Colo.

"The data has been encouraging to support further evaluation of this synthetic scaffold as a cartilage repair technique," said Asheesh Bedi, M.D., a fellow in sports medicine and shoulder surgery at Hospital for Special Surgery who was involved with the study. Dr. Bedi performed analysis of MRI scans of patients primarily treated by Riley Williams, M.D., director of the Institute for Cartilage Repair at Hospital for Special Surgery. "The Trufit plug has been designed to have mechanical properties that are similar to cartilage and bone," Dr. Bedi said.

Damage to so-called articular cartilage can occur in various ways, ranging from direct trauma in a motor vehicle accident to a noncontact, pivoting event on the soccer field. "Articular cartilage lacks the intrinsic properties of healing—you are essentially born with the articular cartilage that you have," Dr. Bedi said. Left untreated, these injuries can increase loads placed on the remaining intact cartilage and increase the risk of progression to degenerative arthritis. One way to treat patients with symptomatic chondral lesions is an OATS procedure, in which cartilage is transferred from one portion of the knee to treat another. Because this is a "robbing Peter to pay Paul" situation, researchers at Hospital for Special Surgery set out to examine whether they could use a biodegradable plug, the Trufit CB plug, to fill the donor site. The goal was to monitor how the plug incorporated itself into the knee and to evaluate the quality of the repair cartilage.

The Trufit plug has two layers. The top layer has properties similar to cartilage and the lower layer has properties similar to bone. The bilayered structure has mechanical properties that approximately match the adjacent cartilage and bone. Surgeons inserted the plug in the knees of 26 patients with donor lesions from OATS procedures and followed up with imaging studies (with MRI and T2-mapping) at various intervals for a period of 39 months.

"Quantitative MRI, when combined with morphologic assessment, allows us to understand the natural history of these repair techniques and define those patients who are most likely to benefit from the surgery," said Hollis Potter, M.D., chief of the Division of Magnetic Resonance Imaging, director of Research in the Department of Radiology and Imaging at Hospital for Special Surgery and lead author of the study. "We gain knowledge about the biology of integration with the host tissue, as well as the repair tissue biochemistry, all by a noninvasive imaging technique."

"What we found was that the plug demonstrated a predictable process of maturation on imaging studies that paralleled the biology of their incorporation," Dr. Bedi said. "With increasing postoperative duration, the repair tissue demonstrated encouraging properties with T2-values that resembled native articular cartilage."

Dr. Williams, Dr. Bedi and other surgeons at Hospital for Special Surgery are involved in ongoing studies to investigate the efficacy of the TruFit plug in treating primary cartilage defects as well. "What is unique about this study is that we have serial MRI with T2 mapping at various time points after surgery, which allows us to really examine the natural history of plug incorporation," Dr. Bedi said.

Dr. Williams believes that there is a role for scaffold-based cartilage repair strategies in the treatment of symptomatic cartilage lesions. "It is our hope that we can successfully treat these cartilage problems over the long term, thus restoring normal knee function and slowing the progression of knee arthritis," Dr. Williams said.


http://www.hss.edu/

Pinpointing the genes involved in human brain cancer can be like looking for a needle in a haystack, and sometimes the needle you find may not be the right one. By comparing human and canine genomes, researchers at North Carolina State University have discovered that a gene commonly believed to be involved in meningiomas-tumors that affect the meninges, or thin covering, of the human brain and account for one out of four adult brain tumors -may not be as key for tumor formation as previously thought, and they've narrowed the search for the real culprit.

Meningiomas are intracranial tumors, meaning that they do not grow within brain tissue itself, but in the space between the brain and the skull. In humans, they are associated with genetic defects of large segments of chromosomes, which makes isolating the specific genes involved extremely difficult. Humans suffering from meningioma frequently lose one copy of almost the entire length of human chromosome 22. This chromosome is made of almost 50 million base pairs of DNA that code for more than 500 genes.

"The dog has been man's best friend for centuries, and now the genome of the dog could well be man's next best friend," says Dr. Matthew Breen, professor of genomics at NC State.

"With so much genetic material to consider, one can see why figuring out which genes play a key role in meningiomas is extremely difficult," says Breen. "By looking at tumors seen in both humans and dogs we have a simple way to narrow the search: we compare the affected areas of a human chromosome with related areas on dog chromosomes. This works because dogs and humans are genetically similar and both get the same kinds of cancers. While we share much of our genetic material, the DNA of a dog is organized differently to our own and this makes it possible to isolate smaller 'shared' regions of genetic data rather than looking at an entire chromosome."

Breen, NC State colleagues Rachael Thomas and veterinary neurologist Natasha Olby, along with researchers from the University of California-Davis and the Wellcome Trust Sanger Institute in Cambridge, UK collaborated on the project, sharing samples of canine meningiomas for research. Their results were published in the Journal of Neurooncology.

Previous researchers had pinpointed a particular tumor-suppressing gene on human chromosome 22, known as NF2, as a possible contributor to meningioma. They believed that the deletion of NF2, with its tumor suppressing abilities, could trigger tumor growth.

In looking at genetic changes across the whole genome, Breen's team compared human chromosome 22 to its canine counterpart. In dogs, the region shared with 22 is "split up" across three separate dog chromosomes - numbers 10, 26 and 27- with the NF2 gene appearing on dog chromosome 26. The researchers discovered that in dogs with meningioma, chromosome 26, and hence NF2, was rarely affected, casting doubt on this gene as playing a significant role in the disease. Instead, dogs with meningioma frequently showed loss of parts of dog chromosome 27. This led the researchers to focus on the portion of human chromosome 22 that corresponds to canine chromosome 27.

"Now, instead of looking at 50 million base pairs that contain several hundred genes, we can focus on the portion of human chromosome 22 that is evolutionarily conserved with dog chromosome 27," Breen says. "By looking at dog and human meningiomas together we reduce the amount of searching we need to do 50-fold. It's the old needle/haystack dilemma, except that using information from dog and human tumors allows us to concentrate our search on the two percent of the haystack that actually contains the needle, and not spend time and resources on the other 98 percent."

Breen also noticed that the other chromosome involved for canines that suffer from meningioma is dog chromosome 17, which correlates with part of human chromosome 1. Defects of this chromosome are involved in almost 70 percent of human meningioma cases and are associated with a poor patient outcome. He hopes that he can use this correlation to further narrow the search for specific genes involved with the disease.

In addition the team looked also at gliomas, another kind of brain tumor, and have shown common genetic features shared between human and canine tumors that are now under further investigation.

"The data support that dog and human tumors are very similar at the genetic level, so both species will benefit from this research," Breen says. "It's proof of the 'One Medicine' concept - the idea that human and animal health relies on a common pool of medical and scientific knowledge and is supported by overlapping technologies and discoveries."


http://www.ncsu.edu/

A PhD thesis at the University of the Basque Country (UPV/EHU) has analysed the role played by a number of emotional variables, such as the way in which negative emotions are controlled or attitudes to emotional expression, and to use these variables as tools to predict the possibility of suffering an eating disorder.


The author of the thesis, Ms. Aitziber Pascual Jimeno, presented her work under the title, Emotions and emotional control in eating disorders: predictor role and emotional profiles.*

This work focused on two objectives: to find out if certain emotional variables play an significant role in the development of these disorders; and to know in more detail the emotional profiles, both of women at risk of contracting an eating disorder as well as of those already suffering from one.

To this end, the following emotional variables have been specified: those relative to emotional experience —the frequency of positive and negative emotions, anxiety, low self-esteem and the influence of diet, weight and the body shape on the emotional state—; negative perception of emotions, negative attitude to emotional expression, alexithymia —the inability to identify own emotions and to express them verbally— and the manner of controlling negative emotions.

Moreover, another variable has also been taken into account: the need for control. This variable is not strictly emotional, but has a clear emotional component, given that people with a high need for control, experience anxiety and unwellness when perceiving lack of control.

Study of women

In order to undertake the study, 433 women took part; 143 of these suffered from some kind of eating disorder and 145 in risk of contracting one. The results of the study show that, in general, the majority of the variables put forward can be used as predictive of suffering an eating disorder. The variables which, above all, alert to greater risk of developing an eating disorder are when the emotional state of the person is excessively influenced by diet, weight and body shape, when self-esteem is low, and when, in anxiety situations, emotions are not expressed and the person tends to act in an impulsive manner.

These results have important implications, above all when drawing up prevention programmes for eating disorders. With the data obtained, it can be said that many of the emotional variables dealt with in Ms Pascual’s work should be taken into account when drawing up these prevention programmes.

Serious illnesses

Eating disorders are very serious illnesses that have dire consequences for the sufferer, both physically as well as psychologically and socially, and there are disorders that are evermore widespread. Much research has been undertaken in order to find out the factors involved in their development, but the role played by the various emotional variables at the onset of these disorders has hardly been investigated. This thesis presented at the UPV/EHU focused on this matter more deeply.


http://www.basqueresearch.com/

Does God or some other type of transcendent entity answer prayer?


The answer, according to a new Arizona State University study published in the March journal Research on Social Work Practice, is "yes." David R. Hodge, an assistant professor of social work in the College of Human Services at Arizona State University, conducted a comprehensive analysis of 17 major studies on the effects of intercessory prayer -- or prayer that is offered for the benefit of another person -- among people with psychological or medical problems. He found a positive effect.

"There have been a number of studies on intercessory prayer, or prayer offered for the benefit of another person," said Hodge, a leading expert on spirituality and religion. "Some have found positive results for prayer. Others have found no effect. Conducting a meta-analysis takes into account the entire body of empirical research on intercessory prayer. Using this procedure, we find that prayer offered on behalf of another yields positive results."

Hodge's work is featured in the March, 2007, issue of Research on Social Work Practice, a disciplinary journal devoted to the publication of empirical research on practice outcomes.


Hodge noted that his study is important because it is a compilation of available studies and is not a single work with a single conclusion. His "Systematic Review" takes into account the findings of 17 studies that used intercessory prayer as a treatment in practice settings.

"Some people feel Benson and associates' study from last year, which is the most recent and showed no positive effects for intercessory prayer, is the final word," said Hodge, referring to a 2006 article by Dr. Herbert Benson of the Harvard Medical School that measured the therapeutic effect of intercessory prayer in cardiac bypass patients. "But, this research suggests otherwise. This study enables us to look at the big picture. When the effects of prayer are averaged across all 17 studies, controlling for differences in sample sizes, a net positive effect for the prayer group is produced.

"This is the most thorough and all-inclusive study of its kind on this controversial subject that I am aware of," said Hodge. "It suggests that more research on the topic may be warranted, and that praying for people with psychological or medical problems may help them recover."

The use of prayer as a therapeutic intervention is controversial. Yet, Hodge notes that survey research indicates that many people use intercessory prayer as an intervention to aid healing, which raises questions about its effectiveness as an intervention strategy.

"Overall, the meta-analysis indicates that prayer is effective. Is it effective enough to meet the standards of the American Psychological Association's Division 12 for empirically validated interventions? No. Thus, we should not be treating clients suffering with depression, for example, only with prayer. To treat depression, standard treatments, such as cognitive therapy, should be used as the primary method of treatment."



http://www.asu.edu/