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Genetics Home Reference: alopecia areata

The causes of alopecia areata are complex & not well understood. A combination of factors likely underlies the disorder, including changes in many genes that function in the hair & skin and in the immune system.
Alopecia areata is one of a large group of immune system diseases classified as autoimmune disorders. Normally, the immune system protects the body from foreign invaders, such as bacteria & viruses, by recognizing & attacking these invaders & clearing them from the body. In autoimmune disorders, the immune system malfunctions & attacks the body’s own tissues instead. For reasons that are unclear, in alopecia areata the immune system targets , stopping hair growth. However, the condition does not permanently damage the follicles, which is why hair may later regrow.
Many of the genes that have been associated with alopecia areata participate in the body’s immune response. These include several genes belonging to a gene family called the . The HLA complex helps the immune system distinguish the body’s own proteins from proteins made by foreign invaders. Each HLA gene has many different variations, allowing each person’s immune system to react to a wide range of foreign proteins. Certain variations in HLA genes likely contribute to the inappropriate immune response targeting hair follicles that leads to alopecia areata. Immune system genes outside the HLA complex, such as several genes involved in inflammation, have also been associated with alopecia areata.
Some of the genetic variations associated with alopecia areata have been identified in people with other autoimmune disorders, which…

Two Diabetes Medications Don't Slow Progression of Type 2 Diabetes in Youth

News Release
Monday, June 25, 2018 NIH-funded study adds to growing evidence that condition is more aggressive in youth. In youth with impaired glucose tolerance or recent-onset type 2 diabetes, neither initial treatment with long-acting insulin followed by the drug metformin, nor metformin alone preserved the body’s ability to make insulin, according to results published online June 25 in Diabetes Care. The publication is concurrent to a presentation of the results at the American Diabetes Association Scientific Sessions in Orlando, Florida.
The results come from a study of 91 youth ages 10-19, part of the larger Restoring Insulin Secretion (RISE) study. To determine if early, aggressive treatment would improve outcomes, participants at four study sites were randomly assigned to one of two treatment groups. The first received three months of glargine — a long-acting insulin — followed by nine months of metformin. The second received only metformin for 12 months. Participants were then monitored for three more months after treatment ended. RISE was funded primarily by the National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK) of the National Institutes of Health.
The RISE Pediatric Medication Study found that beta cell function — key to the body’s ability to make & release insulin — declined in both groups during treatment & worsened after treatment ended. An earlier NIH-funded study also found that type 2 diabetes progresses more rapidly in youth than previously reported in adults despite comparable treatment.
“Only two drugs are currently approved for youth with type 2 diabetes, & we were…

New Website Design for the NLM Disaster Information Management Research Center

The National Library of Medicine released a new design for the Disaster Information Management Research Center website & the Disaster Lit® database.  The new design improves access to key resources on natural and man-made disasters, as well as public health emergencies such as emerging infectious diseases. 
The Disaster Lit database complements PubMed with information from hundreds of sources concerning disasters and public health emergencies. Over 14,000 reports, guidelines, training courses, websites, etc., from government agencies, non-governmental organizations, universities, & more are included in Disaster Lit.
We keep our Disaster Health Information Guides up to date by linking directly to searches of Disaster Lit & PubMed. This ensures that the latest articles & resources are always at your fingertips.
Want to keep up to date with DIMRC? Join our announcement list, or the weekly or daily Disaster Lit update digest, & follow us on Twitter: https://disasterinfo.nlm.nih.gov/stay-connectedv

Since its founding in 1836, the National Library of Medicine https://www.nlm.nih.gov has played a pivotal role in translating biomedical research into practice & is a leader in information innovation. NLM is the world’s largest medical library, & millions of scientists, health professionals and the public around the globe use NLM services every day.
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Genetics Home Reference: Lyme disease

Lyme disease is an infectious disease caused by Borrelia burgdorferi bacteria. The bacteria are transferred to humans by tick bite, specifically by blacklegged ticks (commonly known as deer ticks). The condition is named for the location in which it was first described, the town of Lyme, Connecticut.
If not treated with antibiotics, Lyme disease follows three stages: early localized, early disseminated, & late disseminated infection. A small percentage of individuals have symptoms that persist months or years after treatment, which is called post-treatment Lyme disease syndrome.
A characteristic feature of Lyme disease, and the key feature of early localized infection, is a slowly expanding red rash on the skin (called erythema migrans) at the site of the tick bite; the rash is often bull’s-eye shaped. Flu-like symptoms & enlarged lymph nodes (lymphadenopathy) are also early signs of infection. Most people who are treated at this stage never develop further symptoms.
The early disseminated stage of Lyme disease occurs as the bacteria is carried throughout the body in the bloodstream. This stage occurs a few weeks after the tick bite. Signs & symptoms can include additional rashes on other parts of the body, flu-like symptoms, and lymphadenopathy. Some affected individuals develop neurologic problems (referred to as neuroborreliosis), such as paralyzed muscles in the face (facial palsy); pain, numbness, or weakness in the hands or feet; difficulty concentrating; or memory problems. Rarely, the heart is affected (Lyme carditis), causing a sensation of fluttering or pounding in the chest (palpitations) or an irregular heartbeat.
The late disseminated…

Systolic Blood Pressure Intervention Trial (SPRINT) Study

In adults age 50 and older who had high blood pressure & at least one additional cardiovascular disease risk factor, but who had no history of diabetes or stroke, SPRINT showed that treating to a target systolic blood pressure of less than 120 mm Hg reduced rates of high blood pressure complications, such as heart attack, heart failure, & stroke, by 25 percent. Compared with the standard target systolic pressure of 140 mm Hg, treating to less than 120 mm Hg also lowered the risk of death by 27 percent. In 2015, the SPRINT Research Group published its findings in the New England Journal of Medicine.
The cardiovascular benefits of the lower systolic blood pressure target were consistent in all groups of people included in SPRINT, regardless of gender, race, age, or pre-existing CKD. To achieve the target systolic blood pressure of less than 120 mm Hg, the first treatment group received three medicines on average. The second treatment group received two medicines to treat to the target systolic blood pressure of less than 140 mm Hg. Participants had high levels of satisfaction with treatment and adherence to medicines regardless of which treatment group they were in.
In the lower blood pressure group, there were expected side effects from blood pressure medicines, such as lower blood levels of potassium and sodium. Treating to the target systolic blood pressure of less than 120 mm Hg also showed an increase in complications due to low blood pressure such as fainting; however, there was not…

The FDA Encourages New Treatments for Sickle Cell Disease

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Sickle cell disease (SCD) is the most common inherited blood disorder in the United States. It affects about 100,000 children & adults in the United States & millions of people worldwide.
New treatments are needed to prevent and treat its serious complications. That’s why the U.S. Food & Drug Administration is working with patients & stakeholders, including academics & those from the pharmaceutical industry, to help.
What Is Sickle Cell Disease?
Sickle cell disease affects millions of people worldwide and is particularly common among people with ancestors from sub-Saharan Africa; Spanish-speaking regions in the Western Hemisphere (South America, the Caribbean, & Central America); Saudi Arabia; India; & Mediterranean countries such as Turkey, Greece, & Italy, according to the Centers for Disease Control & Prevention.
More than 3 million Americans, including one in 13 African Americans, carry the sickle cell trait, the gene that can potentially allow the disease to be passed on to their children. A baby born with sickle cell disease must inherit a SCD gene from each parent. Babies born in the United States are typically screened at birth for SCD.
People with the disease have “sickled” or abnormally shaped red blood cells that get stuck in small blood vessels & block the flow of blood & oxygen to major organs in the body. These blockages can cause severe pain, organ damage, or even stroke. Other complications include vulnerability to infection, fatigue, & delayed growth.
SCD is chronic & its severity varies. Most people with the disease will…

An Ambitious Research Plan to Help Solve the Opioid Crisis: HEAL Initiative

In spring 2018, Congress added an additional $500 million to the NIH budget to invest in science to find solutions to the opioid crisis. The Helping to End Addiction Long-term (HEAL) initiative is being kicked off today with the announcement of several bold projects across NIH, focused on two main areas: improving opioid addiction treatments & enhancing pain management to prevent addiction & overdose. The funding that NIDA is receiving will go toward the goal of addressing addiction in new ways & better delivering existing forms of care to populations that need it.
Developing new addiction treatments & overdose-reversal tools is one of the major projects we will be funding. Three medications are currently FDA-approved to treat opioid addiction, one medication (lofexidine) has just been approved to treat physical symptoms of opioid withdrawal, & naloxone is available in both injectable and intranasal formulations to reverse overdose. But a wider range of options is needed in all three areas. These may involve not only new formulations of existing drugs (e.g., longer-acting depot formulations of opioid agonists or longer-acting naloxone formulations that are more suitable to reverse fentanyl overdoses) but also compounds that target different receptor systems or immunotherapies to treat symptoms of withdrawal & craving in addition to the progression of opioid use disorders. The Focused OUD Medications Development Research Project will consist of a series of high-impact studies that will ideally lead to about 15 Investigational New Drugs (INDs), which would then produce around 5 New Drug Applications (NDAs) submitted to…

Benzodiazepines & Opioid

More than 30 percent of overdoses involving opioids also involve benzodiazepines, a type of prescription sedative commonly prescribed for anxiety or to help with insomnia. Benzodiazepines (sometimes called “benzos”) work to calm or sedate a person, by raising the level of the inhibitory neurotransmitter GABA in the brain. Common benzodiazepines include diazepam (Valium), alprazolam (Xanax), & clonazepam (Klonopin), among other people.
Every day, more than 115 Americans die after overdosing on opioids.1 However, between 1996 & 2013, the number of adults who filled a benzodiazepine prescription increased by 67%, from 8.1 million to 13.5 million.2 The quantity obtained also increased from 1.1 kg to 3.6 kg lorazepam-equivalents per 100,000 adults. Combining opioids & benzodiazepines can be unsafe because both types of drug sedate users & suppress breathing—the cause of overdose fatality—in addition to impairing cognitive functions. In 2015, 23 percent of people who died of an opioid overdose also tested positive for benzodiazepines (see graph).3 Unfortunately, many people are prescribed both drugs simultaneously. In a study of over 300,000 continuously insured patients receiving opioid prescriptions between 2001 & 2013, the percentage of persons also prescribed benzodiazepines rose to 17 percent in 2013 from nine percent in 2001.4 The study showed that people concurrently using both drugs are at higher risk of visiting the emergency Dept. or being admitted to a hospital for a drug-related emergency.
Previous studies have also highlighted the dangers of co-prescribing opioids & benzodiazepines. A cohort study in North Carolina found that the overdose death rate among patients receiving both…

Fentanyl & Other Synthetic Opioids Drug Overdose Deaths

Figure 1: Recent Trends
In 2016, synthetic opioids (primarily illegal fentanyl) passed prescription opioids as the most common drugs involved in overdose deaths in the United States.
In 2016, synthetic opioids were involved in nearly 50% (19,413) of opioid-related deaths, up from 14% (3,007) in 2010.
*This infographic summarizes mortality data from 2010-2016. Please note, 15 to 25 percent of death certificates analyzed did not indicate the type of drug involved in the overdose. This was because drug tests were not conducted or there was a failure to record test results on death certificates. Figure 2: Synthetic Opioids Linked to Overdose Deaths with Other Substances
In 2016, 42,249 drug overdose deaths involved opioids. Of those, 45.9% involved synthetic opioids. 17,087 overdose deaths involved prescription opioids. Of those, 23.7% involved synthetic opioids. 15,469 overdose deaths heroin. Of those, 37.4% involved synthetic opioids. 10,375 overdose deaths involved cocaine. Of those, 40.3% involved synthetic opioids. 7,542 overdose deaths involved psychostimulants. Of those, 13.8% involved synthetic opioids. 10,684 overdose deaths involved benzodiazepines. Of those, 31.0% involved synthetic opioids. 4,812 overdose deaths involved antidepressants. Of those, 20.8% involved synthetic opioids. 1,877 overdose deaths involved antipsychotics and neuroleptics. Of those, 20.5% involved synthetic opioids. 409 overdose deaths involved barbiturates. Of those, 21.5% involved synthetic opioids. 543 overdose deaths involved other illicit drugs. Of those, 26.5% involved synthetic opioids.
*Deaths are not mutually exclusive. Deaths involving more than one drug or drug class are counted multiple times. Figure 3: Type of Opioid Involved in Opioid-Related Overdose Deaths
Among the 42,249 opioid-related overdose deaths…

Mind Over Matter: Prescription Pain Medications (Opioids)

Long-term opioid use changes the way nerve cells work in the brain. This happens even to people who take opioids for a long time to treat pain, as prescribed by their doctor. The nerve cells grow used to having opioids around, so that when they are taken away suddenly, the person can have lots of unpleasant feelings & reactions. These are known as withdrawal symptoms.
Have you ever had the flu? You probably had aching, fever, sweating, shaking, or chills. These are similar to withdrawal symptoms, but withdrawal symptoms are much worse.
That is why use of opioids should be carefully watched by a doctor—so that a person knows how much to take & when, as well as how to stop taking them to lessen the chances of withdrawal symptoms. Eventually, the cells will work normally again, but that takes time.
Someone who is addicted to opioids has other problems as well. For example, they keep taking the drug even though it may be having harmful effects on their life & their health. They have strong urges to take the drug—called cravings—and they no longer feel satisfied by natural rewards (like chocolate, TV, or a walk on the beach). …

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