The use of pancreatic islets (hormone-producing cells) is increasing in diabetes research and may play an important role in future treatments, according to an article in the April 15 issue of JAMA, a theme issue on diabetes.

John S. Kaddis, B.S., of the City of Hope National Medical Center, Duarte, Calif., presented the findings of the article at a JAMA media briefing at the National Press Club in Washington, D.C.

"The primary objective of islet-based research is to cure diabetes. Perhaps the most prominent clinical application of this research is currently in the form of cell replacement therapy. With the exception of 1 report in a type 2 diabetic cohort, islet transplantation has been used exclusively for a subset of individuals with type 1 diabetes mellitus and was shown, at least temporarily, to improve glucose control and, in a few cases, to lead to insulin independence," writes Mr. Kaddis and colleagues.

With this procedure, pancreatic islets are transplanted from a donated pancreas to a person with diabetes as a means of restoring beta-cell function. The destruction of beta cells in the pancreas is the cause of type 1 diabetes.

"Although islet transplantation has been shown to offer both protection against long-term complications of the disease and significant improvement in quality of life, several obstacles remain, such as limited engraftment [acceptance of the islets within the recipient], chronic immunosuppression, and inconsistent supply of human islets. These issues must be addressed if the procedure is to be used as a standard of care for qualified individuals," they write.

According to the authors, investigators seeking to understand the biology of human islets have approached the problem in a variety of ways. "Some have used surrogate beta cells and cell lines while others have focused on pancreas-derived isolated islets from human or nonhuman sources. Islets and islet-like cells have been used experimentally and clinically to increase beta-cell mass."

The demand for pancreatic islets for research and treatment has been increasing, with the production of human islets contingent on the availability of pancreata (plural for pancreas).

One of the barriers to islet production is the cost of acquiring organs, with data from the Islet Cell Resource (ICR) consortium showing that for 665 pancreata acquired from 2001 to 2008, standard acquisition charges ranged from a low of $600 to a high of $39,800.

To help address the supply and demand issues faced by islet laboratories and clinical and laboratory scientists, islet sharing networks have been established. "These distribution networks have had a global influence on diabetes research but face economic obstacles in preserving the availability of human islets in a growing research community."

Data indicate that 297.6 million islets were produced by 14 ICR laboratories between September 2001 and August 2008, with 67 percent used for basic science research and 31 percent for clinical purposes.

"The importance of human pancreatic islets, clinically or for basic science research, is substantiated by the number and quality of studies being performed that rely on these preparations. Data available through the ICR as of August 2008 indicate that a total of 151 national and international scientists received human islets for use in both intramural research performed by the consortium as well as 182 clinical and basic science projects submitted to the consortium for support," they write.

A report by Virginia's Chief Medical Examiner says that 12 infants died in 2007 as the direct result of an unsafe sleeping practice and as many as 49 other infants died in instances where unsafe sleeping conditions existed. Unsafe conditions are described as babies sleeping in the same bed with an adult or other children, babies sleeping on soft surfaces such as waterbeds, pillows, comforters or couches or babies sleeping in areas that include quilts, comforters, pillows or toys. The report said such conditions can result in suffocation.

Overall during the past year, 839 infants died in Virginia and the state's infant mortality rate of 7.7 deaths per 1,000 live births ranks 30th among all states according to America's Health Ranking, a survey conducted by the United Health Foundation.

Gov. Timothy M. Kaine has made reducing Virginia's infant mortality rate a public health priority and State Health Commissioner, Karen Remley, M.D., MBA, has called infant mortality Virginia's "unseen epidemic." The Commissioner recently established a statewide working group on infant mortality, bringing together medical and health professionals, business, community and faith leaders and civic organizations, to develop strategies and actions to reduce the state's mortality rate.

"A majority of infant deaths are preventable if we improve the health and nutrition of pregnant women and if we improve our child care practices," Commissioner Remley said. "I am hopeful that this report will increase public awareness of the need to make those changes that will save the lives of more babies this year."

The Chief Medical Examiner's Office reviewed 156 infant deaths in 2007 that fell under its jurisdiction. Of these deaths, 46 were classified as Sudden and Unexpected Infant Death (SUID), meaning that no definitive medical or traumatic cause of death could be established but an associated risk factor, such as unsafe sleeping conditions, was present. Another 41 deaths were classified as Sudden Infant Death Syndrome (SIDS), in which the cause of death remains unexplained despite a thorough investigation and autopsy performed by the Medical Examiner's Office. In these instances, there were no associated unsafe sleep practices. The American Academy of Pediatrics has long recommended putting babies to sleep on their backs as a way to reduce SIDS risk.

In parallel studies in human and mouse, two groups of researchers have come to the same conclusion: that a new kind of gene is associated with progressive hearing loss. The new gene - called a microRNA - is a tiny fragment of RNA that affects the production of hundreds of other molecules within sensory hair cells of the inner ear.

The research, published in Nature Genetics, provides important new genetic understanding of a condition that is common in humans but remains poorly understood.

One team, led by researchers from the Hospital Ramón y Cajal, Madrid, Spain, followed families who showed hearing loss. The second team, led by researchers from the Wellcome Trust Sanger Institute, Cambridge, UK, examined a new line of mice, called diminuendo, that showed progressive hearing loss from an early age. The two groups shared their emerging data.

"We were able quite quickly to show that if the mice carried one copy of the gene variant they suffered progressive hearing loss, if they carried two variants they were profoundly deaf," explains Professor Karen Steel, principal investigator of the programme at the Wellcome Trust Sanger Institute. "The important questions were could we determine what the variant is and how does it exert its effect on hearing?"

In their studies of families with progressive hearing loss, the Spanish team had proposed that the gene responsible lay on human chromosome 7. Both teams set about sequencing every gene in the equivalent genomic regions in human and mouse identified as implicated in hearing loss; the sequencing showed that most of the genes in the region could not be responsible for hearing loss.

However, they each found that a mutation in a microRNA gene called miR-96 was associated with the hearing loss.

"We know of a number of genes involved in deafness in humans and mice but, to our great surprise, this was one of a new class of genes called microRNAs," explains Professor Miguel Angel Moreno-Pelayo, senior author on the human study, from Hospital Ramón y Cajal and Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.

MicroRNAs are tiny snippets of genetic information that, it is increasingly clear, can have dramatic consequences. Only five years ago, their role in human biology and disease was unknown. Today, it is becoming clear that these little molecules can control the activity of many genes. MicroRNAs can bind to the messengers involved in protein production in cells, disrupting this process.

"No one has seen a disease-causing mutation in the mature sequence of a microRNA," says Dr Moreno-Pelayo. "This is the first microRNA gene associated with hearing impairment and, remarkably, it is the first to be associated with an inherited disorder."

In the mouse, the precise role of the mutation can be examined. Mutation of the miR-96 gene seemed to disrupt development of intricate sensory hair cells in the mutant mice. Mice with two copies of the mutant gene had malformed hair cells from birth and the cells degenerated from an early age. In mice with one copy of the mutant gene, the effects were less severe, but became worse with age.

"The mutation - a change of a single letter of genetic code from A to T - in this tiny stretch of sequence is enough to lead to dramatic loss of hearing in these mice," explains Dr Morag Lewis, a Sanger Institute scientist, who found this mutation. "We wondered if this single change was preventing the miR-96 from binding to the sites it would normally target to influence gene activity, and looked at ways to determine if this was the case."

The scientists looked at many thousands of messengers to determine which of them seemed altered in the mice with the miR-96 mutation. Significantly, a handful of these seemed to play vital roles in the working of the ear.

"Finding that these targets are affected by the mutation in miR-96 was a real landmark in our studies," says Karen Steel. "Any one of the strongest candidates could have explained the hearing loss effects on its own. It was a really remarkable result.

"We had gone from one amazing result - that this variant microRNA was causing these dramatic effects - to another - that miR-96 does affect genes important for normal hearing and a clear path was laid."

In the human studies, two families showed mutations in miR-96 - but they each carried the mutation at different locations in the miR-96 gene. Intriguingly, neither mutation in humans is the same letter as in the mouse, but all three are close to one another in the miR-96 sequence.

"The mutation in the second family is just one letter away from the mutation in the first and just one away from the mutation in the mouse gene. All three sit in a vital region of seven letters in the mature sequence of miR96" says Dr Angeles Mencía, the Spanish team member who found the human mutations.

Remarkably, then, cases of deafness in two different organisms are both tied to equivalent microRNAs and to the equivalent region within the microRNA - just seven letters that are known to be important for interacting with the messenger targets.

"The human variants of miR-96 identified in the affected families were found to alter activity of other genes in experiments in test tubes," explains Dr Moreno-Pelayo.

The team also looked to see whether the mutations altered the production or stability of miR-96 and to see whether they affected the normal workings of miR-96. Both the genesis and function of miR-96 were impaired by these human mutations in the lab studies.

Researchers are using models of hearing in the mouse to understand human hearing deficits: by the age of ten, one in 500 children has suffered significant hearing impairment and the majority of over-70s are affected. The same genes have often been shown to be involved in deafness in both the mouse and humans.

Two new disorders affecting the cornea have been discovered by researchers at Linköping University. The hereditary disorders were discovered in two Swedish families.

The story begins with a mother and daughter arriving at the eye clinic at the University Hospital in Linköping. They both suffer from recurrent wounds on the cornea, causing pain, watery eyes, sensitivity to light and decreased vision. At the clinic they are seen by Professor Per Fagerholm and Specialist Consultant Bjorn Hammar.

"They had been referred from a hospital in the county of Småland and their complaint did not match any previously diagnosed disorders. It transpired that many in their extended family suffered from the same problem", says Björn Hammar, who now publishes the research results in his doctoral thesis at LiU.

He created a family tree, going back six generations with 171 individuals born 1854 and later. Of these 44 had suffered from the disorder and nine had undergone corneal grafting. Most had developed symptoms before the age of one. It soon became apparent this was a disorder with autosomal dominant inheritance, meaning you only need to get the abnormal gene from one parent in order for you to inherit the disorder.

Close clinical studies and genetic analyses showed this disorder was clearly demarcated from other disorders with similar symptoms. The disorder was named after the area of Sweden where this family had lived for generations, Dystrophia Smolandiensis.

The research led to data about a similar phenomenon in a different Swedish county, Halsingland, being revisited and closer examined. This family tree included seven generations and 342 people, of which 84 had symptoms similar to that of the family from Smaland, but the overall picture of the disorder deviated enough for a separate diagnosis. The onset in Dystrophia Helsinglandica was usually later, at the ages of 4-7, and the symptoms were worse but less frequent.

The Wyoming Department of Health is encouraging interested community members to host local mental illness anti-discrimination public hearings around Wyoming.

"Local public hearings about this issue provide a venue for people with real-life experience to be heard," said Rodger McDaniel, Wyoming Department of Health deputy director for mental health and substance abuse services.

The department's Mental Health and Substance Abuse Services Division is aiming to raise awareness about the impact of discrimination against people with mental illness on Wyoming individuals and families.

"Discrimination against people with mental illness, or stigma, is the most significant barrier affecting access to quality prevention, treatment and recovery services," McDaniel said. "When those affected tell their stories, it helps develop public understanding of how discrimination makes the mental health system far less effective than it could be."

The Mental Health and Substance Abuse Services Division is offering registration forms to community members interested in organizing a hearing event in their area. May, which is national mental health awareness month, is suggested as a good time to schedule a hearing.