First look at potentially deadly metabolic disorder that strikes infants


You may have never heard of congenital disorder of glycosylation, but parents whose children are born with forms of this rare — and underreported — metabolic disorder know all too well the dangers they pose, including developmental delay, failure to thrive, stroke-like symptoms, seizures and cerebellar dysfunction.

Burden of diabetes set to increase across sub-Saharan Africa, potentially diminishing health gains of recent years — ScienceDaily

As sub-Saharan African countries struggle to cope with the current burden of diabetes, new estimates suggest that costs associated with the disease could more than double and may reach up to US$59.3 billion per year by 2030 if type 2 diabetes cases continue to increase.

The new report proposes that diabetes and its complications have the potential to reverse some of the health gains seen in sub-Saharan Africa in recent years — overwhelming the region’s health systems and crippling patients’ personal finances as they pay for their own healthcare.

Currently, only half of the people with diabetes in populations in sub-Saharan Africa are aware that they have the disease, and only one in 10 (11%) receive drugs they need.

The Lancet Diabetes & Endocrinology Commission on diabetes in sub-Saharan Africa will be launched in London on July 6. It provides a comprehensive and up-to-date analysis of the burden of diabetes across sub-Saharan Africa, the challenges this burden poses for health systems, as well as potential solutions. More than 70 experts from around the world contributed to the report, which provides five key messages.

In recent years, rapid societal transitions that are producing increases in wealth, urbanisation, changing lifestyle and eating habits, more sedentary work practices and aging populations across sub-Saharan African countries have led to increased risk of type 2 diabetes.

The report estimates that the economic cost of diabetes in sub-Saharan Africa in 2015 totalled $19.5 billion, equivalent to 1.2% gross domestic product (GDP). On average, countries in the region spend 5.5% of their GDP on health.

More than half of this economic cost (56%, $10.8 billion) was on accessing diabetes treatment, including medication and hospital stays — and one half of these costs were out-of-pocket (paid for by the patients), putting a huge financial burden on people with diabetes. The remaining economic costs were a result of productivity losses, mostly from early death ($7.9 billion), as well as people leaving the workforce early ($0.5 billion), taking sick leave ($0.2 billion) and being less productive at work due to poor health ($0.07 billion).

“These estimates show the vast economic burden that diabetes places on sub-Saharan Africa, and should motivate policy makers to increase resources and efforts to overcome this looming health challenge,” says one of the three lead authors, Professor Rifat Atun, Harvard University, USA. “Our figures illustrate the economic cost of inaction. However, the wider cost of inaction is the risk of losing ground on some of the region’s biggest health achievements of the past few decades, as diabetes cases further increase and costs spiral. In its current state, sub-Saharan Africa is not at all prepared for the increasing burden of diabetes caused by rapid, ongoing societal transitions.”

To measure the future impact of increased diabetes rates across all sub-Saharan African countries, the researchers modelled three scenarios to show optimistic and pessimistic projections. Their estimates suggest that, in an optimistic scenario, where diabetes death rates and prevalence remain the same for each country, the annual cost of diabetes would increase to $35.3 billion (1.1% GDP) in 2030. However, if these rates increased in line with the projected rise in each countries’ income levels, economic costs would be $47.3 billion (1.4% GDP), and if rates doubled, the costs could total $59.3 billion (1.8% GDP).

Wealthier areas of sub-Saharan Africa seeing more societal changes had the highest rates of diabetes in 2015, with almost two-thirds of the region’s diabetes costs coming from southern Africa (62%, $12.1 billion), in particular, wealthier South Africa. Less than a tenth of the costs (9%, $1.7 billion) originated from poorer countries in western Africa.

In the projections for 2030, southern Africa is likely to see the greatest increases in annual costs, increasing to between $17.2 and $29.2 billion. However, the authors also predicted substantial growth in costs in eastern African countries (such as Ethiopia, Kenya and Tanzania), increasing from $3..8 billion in 2015 to up to $16.2 billion in 2030.

The Commission’s analyses demonstrate a clear need for improvements at all levels of diabetes care. However, after decades of treating acute infectious diseases, health systems in sub-Saharan African countries are ill-prepared to handle the chronic disease.

The authors of the Commission report conclude that gaps in care include a lack of equipment for diagnosing and monitoring diabetes, lack of treatments, and lack of knowledge about the disease among available healthcare providers. These gaps contribute to the fact that half of patients go undiagnosed, while only one in 10 (11%) receive the drugs they need. Many patients face delayed diagnosis and treatment, meaning the disease progresses and causes further ill health and risk of complications, for example myocardial infarction, blindness, and stroke, which are difficult and expensive to treat.

In order to counter these issues effectively, the researchers recommend rapidly scaling up interventions successfully trialled in sub-Saharan African countries, such as community-based care for high blood pressure, patient education, home glucose monitoring, and more education about diabetes for healthcare professionals.

With the management of type 2 diabetes and its risk factors (such as obesity and physical inactivity) being simpler and cheaper than treating complications of later stage disease, the researchers note that prevention of disease onset and complications will be crucial to improve health and avoid further economic burden.

“Our estimates also illustrate the economic savings that could be achieved if type 2 diabetes rates were halted or reduced in sub-Saharan Africa. This could be done by improving prevention efforts and creating new interventions, and by improving early detection and management of the disease to help more people remain in good health so that they can continue to work,” says Professor Atun.

Writing in a linked Comment, Dr Shabbar Jaffar, Liverpool School of Tropical Medicine, UK, says: “The prevalence of diabetes in sub-Saharan Africa has increased rapidly in the past 10 years or so, affecting people in all sectors of society but, in particular, and disproportionally compared with high-income settings, affecting younger people, with substantial economic effects. A repeating theme throughout the report is the scarcity of reliable evidence about diabetes in the region-for example, about the true magnitude of the burden of disease and its complications, and what interventions will or will not be effective in the sub-Saharan African context. Despite the scarcity of evidence, several simple and vital conclusions emerge from the report.”

Popular class of drugs reverse potentially harmful genetic changes from heart disease — ScienceDaily

Beta blockers are commonly used world-wide to treat a variety of cardiovascular conditions, such as arrhythmias and heart failure. Scientists have known for decades that the medications work by slowing the heart rate and reducing the force of contraction — lessening the burden of work carried out by the heart. However, new research out of York University has now shown that these drugs also reverse a number of potentially detrimental genetic changes associated with heart disease.

Using an experimental model of heart failure and next generation sequencing to get a snapshot of all of the RNA in the heart cells, the researchers identified the global gene expression changes that occur in heart failure. Then they explored what happened to this pattern of gene expression when beta blocker treatment was implemented, and what they found not only surprised them, but could have important ramifications for future treatments of heart disease.

“We discovered that beta blockers largely reverse the pathological pattern of gene expression observed in heart failure,” said Faculty of Science Professor John McDermott, who led the research, along with York U collaborators Professor Gary Sweeney and Professor Jorg Grigull. “This could mean that the reversal or suppression of pathological gene expression by beta blockers is somehow protective against heart failure, but it’s something we would need to look into further to understand how individual genes function in the heart.”

Interestingly, the study also found that some genes associated with the immune system were dysregulated in heart failure, supporting recent research that has suggested the immune system and inflammation are involved in heart disease.

About 600,000 Canadians are living with heart failure, and the disease is expected to rise as more people survive heart attacks and other heart conditions and continue to live longer.

McDermott and his team have identified genes that will be further explored for their potential use in diagnosis and treatment in heart failure.

The study, “Heart Failure and MEF2 Transcriptome Dynamics in Response to B-Blockers,” was published today in Nature Scientific Reports.

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Materials provided by York University. Note: Content may be edited for style and length.

Potentially lethal parasite rat lungworm found throughout Florida — ScienceDaily

University of Florida researchers have found rat lungworm, a parasitic nematode that can cause meningitis in humans and animals, in five Florida counties.

Rats and snails in Alachua, Leon, St. Johns, Orange and Hillsborough counties tested positive for the parasite, according to a study in PLoS ONE by researchers in the UF College of Veterinary Medicine and the Florida Museum of Natural History.

Established in Hawaii and occasionally found in the southern U.S., rat lungworm, or Angiostrongylus cantonensis, relies on rat and snail hosts to complete its lifecycle but can pose a health risk to humans and animals that ingest infected snails. While the fatality rate of infection in humans is low, the parasite can cause eosinophilic (EE’-oh-sin-oh-fil-ihk) meningitis if it becomes trapped and dies in the brain, and severe infections can cause coma or death.

Clinical signs of infection in adults include headache, stiff neck, fever, vomiting, nausea and paralysis of the face and limbs. The most common symptoms of infection in children are nausea, vomiting and fever.

This study sheds new light on the extent of the parasite’s geographic range in Florida, said Heather Stockdale Walden, an assistant professor in the UF department of infectious diseases and pathology and the study’s lead author.

“The parasite is here in Florida and is something that needs to be taken seriously,” she said. “The reality is that it is probably in more counties than we found it in, and it is also probably more prevalent in the southeastern U.S. than we think. The ability for this historically subtropical nematode to thrive in a more temperate climate is alarming.”

In a survey of 18 counties, nearly 23 percent of rats, about 16 percent of rat fecal samples and nearly 2 percent of land snails tested positive for the nematode.

Climate change could trigger further spread of rat lungworm as average temperatures rise, helping the tropical parasite thrive and likely expanding its range, said study co-author John Slapcinsky, collections manager of invertebrate zoology at the Florida Museum.

“We expected the range of this nematode to be restricted to one part of the state because it’s primarily a tropical species,” he said. “But being within another organism could mean it’s less impacted by cold weather.”

While snails live most of their lives within a small area, they can easily be transported on cargo containers and in potted plants, which is probably how the parasite first arrived in Florida, he said.

Slapcinsky also noted rat lungworm “doesn’t seem to be picky” about the species of snails it infects and could threaten native snail populations. In addition to finding the parasite in three non-native snail species, the research team detected the parasite in three native species: the Florida amber snail, Succinea floridana; the perforate dome snail, or Ventridens demissus; and the quick gloss snail, Zonitoides arboreus.

“There are a lot of snail species endemic to South Florida that don’t occur anywhere else, and the last thing you want to do is throw one more problem their way,” he said. “Rat lungworm is finding a whole new pool of animals to infect. The more species it infects, the larger its population can be, which could make transmission even easier.”

Snails ingest rat lungworm larvae by eating infected rat feces. When a rat eats an infected snail, the larvae penetrate the rat’s intestine and enter its circulatory system, which transports them to the brain. There, they develop into immature worms, re-enter the circulatory system and travel to the rat’s pulmonary artery where they mature and reproduce. When new larvae hatch, they are coughed up and swallowed by the rat and pass through its feces, completing the life cycle.

Humans can ingest the parasite by consuming infected snails or infected frogs and crustaceans, which can also pick up the nematode.

Stockdale Walden said more than 2,800 cases of human rat lungworm infection have been documented worldwide since the parasite was described, but the actual number of cases is likely greater as the disease can go undetected or be misdiagnosed.

While no human cases of infection with rat lungworm, or Angiostrongyliasis, have been reported in Florida, eating lungworm-infected snails killed a white-handed gibbon at Zoo Miami in 2003 and a privately owned orangutan in Miami in 2012.

Several steps can help lower the risk of infection, Stockdale Walden said.

“Wash produce,” she said. “Some snails are very small and can easily hide in lettuce leaves. Teach children not to eat snails, and if they handle snails, make sure they wash their hands. Be aware of the potential risks associated with eating snails and also raw or undercooked frogs and crustaceans.”

Infection with rat lungworm can also cause meningitis in animals, as well as limb weakness or paralysis, neck pain and central nervous system problems.

To protect pets and livestock, be mindful of snails in animals’ living space, Stockdale Walden said. Check watering troughs for snails that might have fallen in and monitor animals for snail-eating habits.

“If you have questions about your pet, contact your veterinarian and discuss your concerns,” she said.

Managing rat populations could help curtail the parasite in facilities that house animals, such as zoos and conservation centers, she said.