Arsenic and neural tube defects: Lessons from Bangladesh?

arsenic neural tube defects

Spina bifida and other neural tube defects have become fairly rare in the United States, thanks in part to folic acid added to foods and campaigns to get childbearing women to take folic acid. But in Bangladesh, spina bifida is a common occurrence on maternity wards; in fact, it is considered to be epidemic.

“No surveillance is done, so it’s not clear how many cases there are,” says Maitreyi Mazumdar, MD, MPH, a neurologist at Boston Children’s Hospital who conducts environmental health research. “Children may die in delivery, or they may die before seeing a surgeon.”

Although folic acid supplementation isn’t widespread in Bangladesh, Mazumdar thinks there is another factor in play: the country’s ongoing epidemic of arsenic poisoning.

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News Notes: Headlines in science and innovation

An occasional roundup of news items Vector finds noteworthy.

Zika’s surface in stunning detail; mosquito tactics

Zika virus
(Purdue University image/courtesy of Kuhn and Rossmann research groups)

We haven’t curbed the Zika epidemic yet. But cryo-electron microscopy — a newer, faster alternative to X-ray crystallography — at least reveals the structure of the virus, which has been linked to microcephaly (though not yet definitively). The anatomy of the virus’s projections gives clues to how the virus is able to attach to and infect cells, and could provide toeholds for developing antiviral treatments and vaccines. Read coverage in the Washington Post and see the full paper in Science.

Meanwhile, as The New York Times reports, scientists are coming together in an effort to control Zika by genetically manipulating the mosquito that spreads it, Aedes aegypti.

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Short telomeres, myriad diseases: The complex mystery of dyskeratosis congenita

dyskeratosis congenita
The chromosome tips known as telomeres can be compromised by many different mutations — with many different effects. (vitstudio/Shutterstock)

Genetic diseases largely fall into two overarching camps. You have simple, single-gene alterations that produce a single, recognizable disease. And you have conditions like diabetes or cardiovascular disease, where many variations in many genes all make small contributions that fuel the illness.

Dyskeratosis congenita (DC) doesn’t fit either profile. While this rare genetic condition manifests in certain predictable ways (bone marrow failure among the most common), there is huge variability between patients. Yet genetics has revealed one common thread: the molecular caps that protect the ends of chromosomes, known as telomeres, are shortened in DC patients. This results in cells that age too quickly.

From there things get complicated, because problems with any of 11 different genes can trigger short telomeres in DC. And DC, it appears, is only the beginning.

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Targeting synapse loss in Alzheimer’s to preserve cognition — before plaques appear

Alzheimer's microglia complement
Microglia (in red) consume synapses (in green) after mice are injected with the oligomeric form of beta-amyloid, before plaques appear in the brain. (Soyon Hong, Boston Children’s Hospital)

Currently, there are five FDA-approved drugs for Alzheimer’s disease, but these only boost cognition temporarily and don’t address the root causes of Alzheimer’s dementia. Many newer drugs in the pipeline seek to eliminate amyloid plaque deposits or reduce inflammation in the brain, but by the time this pathology is detectable, it’s unlikely medications can do much to slow the disease.

New research published in Science today suggests several ways that Alzheimer’s could be targeted much earlier to preserve cognitive function — before plaques or inflammation are evident.

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Fever, revisited: ResearchKit app will tap crowd-sourced temperature data

Feverprints temperature

What, exactly, is a fever?

It’s a surprisingly simple but important question in medicine. While a body temperature of 98.6°F (37°C) is generally considered “normal,” this number doesn’t account for temperature differences between individuals — and even within individuals at various times of the day. While a common sign of infection, fever can also occur with other medical conditions, including autoimmune and autoinflammatory diseases.

“Many factors come together to set an individual’s ‘normal’ temperature, such as age, size, time of day and maybe even ancestry,” says Jared Hawkins, MMSc, PhD, the director of informatics for Boston Children’s Hospital’s Innovation & Digital Health Accelerator (IDHA) and a member of the hospital’s Computational Health Informatics Program. “We want to help create a better understanding of the normal temperature variations throughout the day, to learn to use fever as a tool to improve medical diagnosis, and to evaluate the effect of fever medications on symptoms and disease course.”

That’s where Feverprints comes in

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‘Hotspots’ for DNA breakage in neurons may promote brain genetic diversity, disease

DNA breakage brain
DNA breaks in certain genes may help brains evolve, but also can cause disease (Constantin Ciprian/Shutterstock)

As organs go, the brain seems to harbor an abundance of somatic mutations — genetic variants that arise after conception and affect only some of our neurons. In a recent study in Science, researchers found about 1,500 variants in each of neurons they sampled.

New research revealing the propensity of DNA to break in certain spots backs up the idea of a genetically diverse brain. Reported in Cell last month, it also suggests a new avenue for thinking about brain development, brain tumors and neurodevelopmental/psychiatric diseases.

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Inside bridge-enhanced ACL repair

An anterior cruciate ligament (ACL) tear can be a devastating sports injury. Every year, 400,000 people, many of them teen and young adult athletes, sustain ACL injuries or tears. Martha Murray, MD, an orthopedic surgeon at Boston Children’s Hospital, worked with a team of colleagues to create a new procedure known as bridge-enhanced ACL repair (BEAR) that encourages natural healing. Watch this animation to see how it works:

Why do surgeons need a better way to repair ACL injuries?

The current standard of care, surgical ACL reconstruction, is a good solution. But it is linked with a 20 percent risk of re-tearing the ACL, and many young patients face an increased risk of arthritis. Instead of removing the torn ACL and replacing it with a tendon graft, the BEAR technique uses a special protein-enriched sponge to encourage the torn ends to reconnect and heal. The researchers have completed a 20-patient safety trial and are enrolling additional patients in a 200-patient clinical study.

Learn more about Murray’s research.

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Accessing startup resources: 10 tips for physicians and scientists

accessing startup resources

How do you get companies or investors to support your project in a startup world where “many are called, few are chosen?”

Vector attended a panel last week on the subject, moderated by Ryan Dietz, Senior Licensing Manager at Boston Children’s Hospital’s Technology and Innovation Development Office (TIDO). The panelists were:

Below is their distilled advice for physicians and scientists seeking to commercialize a drug discovery, device or health app.

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News notes: Headlines in science & innovation

An occasional roundup of news items Vector finds interesting.

Blood-brain barrier on chip

vector news - blood brain barrier chip
(Wyss Institute at Harvard University)

The blood-brain barrier protects the brain against potentially damaging molecules, but its gate-keeping can also prevent helpful drugs from getting into the central nervous system. Reporting in PLoS One, a team at the Wyss Institute for Biologically Inspired Engineering describes a 3-D blood-brain barrier on a chip — a hollow blood vessel lined with living human endothelial cells and surrounded by a collagen matrix bearing human pericytes and astrocytes.

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One-two punch: Small peptides attack ovarian cancer cells and their environment

ovarian cancer psaptides
Serous ovarian carcinoma (Nephron via Wikimedia Commons)

Ovarian cancer is the fifth leading cause of cancer death among women. Tumors often remain silent until they have spread; as a result, many women go undiagnosed until the disease has already advanced. Ovarian cancer cells often develop resistance to chemotherapy with taxanes and platinum agents, leaving few therapeutic options for women with advanced disease.

Two small peptides could present a new approach to ovarian cancer and potentially other tumors. Derived from a naturally-occurring human protein, they forced tumors to shrink significantly in an animal model of metastatic ovarian cancer, report researchers from Boston Children’s Hospital’s Vascular Biology Program, the University of Bergen and Weill Cornell Medical College in Science Translational Medicine last week.

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