Countdown to Baby: What Happens During Delivery

When you’re in the second stage of labor, called delivery, you are mere minutes to a couple of hours away from meeting your newborn.

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What’s Normal and What’s Not?

 

Many older people worry about their memory and other thinking abilities. For example, they might be concerned about taking longer than before to learn new things, or they might sometimes forget to pay a bill. These changes are usually signs of mild forgetfulness—often a normal part of aging—not serious memory problems.Older woman talking to her doctor about memory problems

Talk with your doctor to determine if memory and other thinking problems are normal or not, and what is causing them.

What’s Normal and What’s Not?

What’s the difference between normal, age-related forgetfulness and a serious memory problem? Serious memory problems make it hard to do everyday things like driving and shopping. Signs may include:

  • Asking the same questions over and over again
  • Getting lost in familiar places
  • Not being able to follow instructions
  • Becoming confused about time, people, and places

Mild Cognitive Impairment

Some older adults have a condition called mild cognitive impairment, or MCI, in which they have more memory or other thinking problems than other people their age. People with MCI can take care of themselves and do their normal activities. MCI may be an early sign of Alzheimer’s, but not everyone with MCI will develop Alzheimer’s disease.

Signs of MCI include:

  • Losing things often
  • Forgetting to go to important events or appointments
  • Having more trouble coming up with desired words than other people of the same age

If you have MCI, visit your doctor every 6 to 12 months to see if you have any changes in memory and other thinking skills over time. There may be things you can do to maintain your memory and mental skills. No medications have been approved to treat MCI.

Dementia

Dementia is the loss of cognitive functioning—thinking, remembering, learning and reasoning—and behavioral abilities to such an extent that it interferes with daily life and activities. Memory loss, though common, is not the only sign. A person may also have problems with language skills, visual perception, or paying attention. Some people have personality changes. Dementia is not a normal part of aging.

There are different forms of dementia. Alzheimer’s disease is the most common form in people over age 65. The chart below explains some differences between normal signs of aging and Alzheimer’s disease.

Differences Between Normal Aging and Alzheimer’s Disease
Normal Aging Alzheimer’s Disease
Making a bad decision once in a while Making poor judgments and decisions a lot of the time
Missing a monthly payment Problems taking care of monthly bills
Forgetting which day it is and remembering it later Losing track of the date or time of year
Sometimes forgetting which word to use Trouble having a conversation
Losing things from time to time Misplacing things often and being unable to find them

When to Visit the Doctor

If you, a family member, or friend has problems remembering recent events or thinking clearly, talk with a doctor. He or she may suggest a thorough checkup to see what might be causing the symptoms

The annual Medicare wellness visit includes an assessment for cognitive impairment. This visit is covered by Medicare for patients who have had Medicare Part B insurance for at least 1 year.

Memory and other thinking problems have many possible causes, including depression, an infection, or a medication side effect. Sometimes, the problem can be treated, and the thinking problems disappear. Other times, the problem is a brain disorder, such as Alzheimer’s disease, which cannot be reversed. Finding the cause of the problems is important to determine the best course of action.

A note about unproven treatments: Some people are tempted by untried or unproven “cures” that claim to make the brain sharper or prevent dementia. Check with your doctor before trying pills, supplements or other products that promise to improve memory or prevent brain disorders. These “treatments” might be unsafe, a waste of money, or both. They might even interfere with other medical treatments. Currently there is no drug or treatment that prevents Alzheimer’s disease or other dementias.

See more resources about cognitive health.

For More Information About Memory Loss and Forgetfulness

NIA Alzheimer’s and related Dementias Education and Referral (ADEAR) Center
1-800-438-4380 (toll-free)
adear@nia.nih.gov
www.nia.nih.gov/alzheimers
The National Institute on Aging’s ADEAR Center offers information and free print publications about Alzheimer’s disease and related dementias for families, caregivers, and health professionals. ADEAR Center staff answer telephone, email, and written requests and make referrals to local and national resources.

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The Basics: Vitamin D

Vitamin D is sometimes called a “wonder vitamin.” Find out why we need it and where to get it.

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Olympic Track and Field Athlete Shares Training Secrets

From the WebMD Archives:

Olympic track and field athlete Hyleas Fountain reveals her training regimen, including how she mentally prepares for competition.

Discover how Olympic athletes stay fit. Plus, get food and fitness tips for the everyday Olympian.
http://www.webmd.com/fitness-exercise/summer-olympics-12/default.htm

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Reviewed By: Michael W. Smith, June 2012
SOURCES: Team USA Olympic Athletes, Uinterview, http://www.uinterview.com
© 2012 WebMD, LLC. All rights reserved.

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Wilms tumor – Genetics Home Reference

 

Changes in any of several genes are involved in the formation of Wilms tumor. Wilms tumor is often associated with mutations in the WT1 gene, CTNNB1 gene, or AMER1 gene. These genes provide instructions for making proteins that regulate gene activity and promote the growth and division (proliferation) of cells. WT1, CTNNB1, and AMER1 gene mutations all lead to the unchecked proliferation of cells, allowing tumor development.

Changes on the short (p) arm of chromosome 11 are also associated with developing Wilms tumor. Two genes in this area, IGF2 and H19, are either turned on or off depending on whether the copy of the gene was inherited from the mother or the father. This parent-specific difference in gene activation is a phenomenon called genomic imprinting. In some cases of Wilms tumor, abnormalities in the process of genomic imprinting on chromosome 11 lead to a loss of H19 gene activity and increased activity of the IGF2 gene in kidney cells. The resulting loss of H19 gene activity, which normally restrains cell growth, and increase in IGF2 gene activity, which promotes cell growth, together lead to uncontrolled cell growth and tumor development in people with Wilms tumor.

In most cases of Wilms tumors involving one kidney and nearly all cases involving both kidneys, the tumors are thought to arise from immature kidney tissue that never developed properly. These immature tissues are known as nephrogenic rests. It is likely that genetic changes are involved in the presence of nephrogenic rests and that additional genetic changes trigger nephrogenic rests to develop into a tumor.

Genetic conditions that share a genetic cause with Wilms tumor can also have this cancer as a feature. These conditions include WAGR syndrome, Denys-Drash syndrome, and Frasier syndrome, which are caused by mutations in the WT1 gene. Wilms tumor has also been seen in individuals with Beckwith-Wiedemann syndrome, which can be caused by changes in the genomic imprinting of the IGF2 and H19 genes. Wilms tumor can be a feature of other genetic conditions caused by mutations in other genes.

Many children with Wilms tumor do not have identified mutations in any of the known genes. In these cases, the cause of the condition is unknown. It is likely that other, unknown genes are also associated with the development of Wilms tumor.

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16 Ways to Celebrate National Women’s Health & Fitness Day

Today is National Women’s Health & Fitness Day, a nation-wide effort to focus attention on the importance of regular exercise and healthy living for women. There will be local events all over the country, from talks on healthy aging to free Kettlebell demos and yoga and Zumba classes.

There’s no denying the importance of our health, yet we’ve all been guilty of putting it on the back burner from time to time.  Whether it be for our families, a job, or an over-indulgent weekend with friends, it’s easy to forget the importance of our health, physical fitness and mental well-being as we manage the stress and celebrate the joys of every day life.

In case you’ve found yourself in one of those slumps, today offers another  great reason to help get you back on track.  National Women’s Health and Fitness Day is a day dedicated to women of all ages focusing attention on the importance of regular exercise and healthy living.  In honor of a healthier you, check out these sixteen ideas to help you celebrate your body, mind, and well-being––and get the journey to a stronger you started!

  1. Find a Local Event. Over 500 community groups across the nation will be hosting health and fitness related events throughout the day, and up to 75,000 women of all ages are expected to get involved. From exercise demonstrations to health information workshops, there will be something for everyone––so grab a friend and join an activity! Get in touch with your local health and fitness organizations, such as senior centers, universities, or park and recreations departments to find out what’s happening in your area.
  2. Get your thyroid checked. A sluggish or hyperactive thyroid can wreak havoc on your concentration, mood, and weight—-and can go undetected for years.
  3. Eat some superfoods! You may not be Superwoman or WonderWoman (well, not every day), but you can eat superfoods. We’re talking broccoli, apples, turnips, zucchini — and lots of other good stuff you can find at your local farmer’s market. Try superfoods that may help you lose weight, fight colds, boost your heart health, support your immune system and may even help you live longer.
  4. Take a nap. You know it’s good for you, so here’s how to power-nap like a pro. New research is shedding light on the health benefits of sleep, which is good for your heart, mind, weight, and more.
  5. Ask a friend to work out. Not only will exercising be more fun, but research has shown that working out with a pal can help you stay motivated and lose more weight than those who go solo.
  6. Give yourself a healthy beauty treatment. Try DIY food facials or find out how to check yourself for skin cancer.
  7. Eat for your bones. A healthy diet can go a long way towards helping you get enough calcium and vitamin D to keep your bones healthy and strong.
  8. Stay hydrated. Not a fan of the 8-glasses-of-water-a-day rule? Try juicy, water-filled foods.
  9. Toast up some squash seeds! Chock full of nutrients and crunch, these little seeds will become a healthy addiction. Plus, they are rich in iron, fiber and zinc.  Markets are filled with them and zucchini this time of the year.
  10. Rub out stress with a massage. While a little bit of stress is fine for the body, prolonged stress can take a toll on your body, including weight gain, hair loss, and blood sugar swings.
  11. Give your back a break. Try lightening up your bag or making other changes to help your back. And don’t forget to add back-strengthening moves to your workout to stop problems before they get started.
  12. Eat some chocolate.  Not only does chocolate (the dark kind) have all sorts of health benefits, letting yourself savor the foods that give you pleasure is one of the healthiest things a woman can do, says Sue Ann Gleason of Consciousbitesnutrition.com.
  13. Try Something New. Have you always wanted to incorporate strength training into your exercise routine but didn’t know where to start? Have you ever wanted to try SoulCycle but were too nervous to sign up for a class? Changing up your work outs can actually be good for your health and fitness, so seize the day and give something new a go.
  14. Schedule a Checkup. The HHS Office on Women’s Health recommends booking an appointment with a doctor or nurse for a well-woman checkup and any preventative screenings that might be eligible for your age group. Staying on top of any required tests and health concerns now can save you a lot of stress, time and money in the future.
  15. Pay Attention to your Mental Health. Stop and listen to what you, your mind and your body need today. Try some relaxing yoga or a 5 minute meditation to help you be present, relieve stress and refresh yourself.
  16. Shake Things Up at Work.  Even if you can’t escape a busy work schedule to get to a gym, there are many ways you can celebrate your health on the job. Take the stairs instead of the elevator, choose a parking spot further away from the door, or get a co-worker out on a walk during your lunch hour. This could even be your chance to start up a weekly healthy recipe club in your team.

However you choose to celebrate, let National Women’s Health and Fitness Day be a reminder that a healthier, happier you is right around the corner––and if you’re already celebrating your health and wellness on a daily basis, give yourself a pat on the back and encourage others to join in on your path to wellness.

Get Connected!

Finding the right physician and keeping up with your wellness can be challenging.  We are here to help!  HealthLynked is the first of its kind portable health record designed with those on the go in mind.  It allows you to gather all your relevant health information and providers in one place – including your medications, pharmacy and healthcare team – to ensure you get the very best care possible.

Ready to get Lynked?  Go to HealthLynked.com now to register for free and start taking control of your health today!

 

 

Sources:

FitnessMagazine.com

Health.com

 

Are My Nipples Normal?

Nipples are just like people – they come in all shapes, sizes, colors, and degrees of hairiness. Yes, nipples can be hairy. They can also be bumpy, point in instead of out, be flat or puffy. Point is, everybody’s nipples are different, so it gets kind of hard to define what’s “normal.” But there are a few things that aren’t normal. Here’s what may be cause for concern.

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What is Ataxia – The Rare Disease and The Symptoms

Ataxia is a degenerative disease of the nervous system. Many symptoms of Ataxia can mimic those of being drunk – slurred speech, stumbling, falling, and lack of coordination. All are related to degeneration of the part of the brain, called the cerebellum, that is responsible for coordinating movement.

Ataxia is a disease that affects people of all ages. Age of symptom-onset can vary widely, from childhood to late-adulthood. Complications from the disease are serious, oftentimes debilitating, and can be life-shortening.

In the US, 150,000 people are affected by the rare disease, yet only 1 out of 10 people know what it is.

Typically, ataxia is also an umbrella term used to classify a lack of muscle control or coordination of voluntary movements, such as walking or picking up objects caused by other degenerative disease or injury. A sign of an underlying condition, ataxia can affect various movements, creating difficulties with speech, eye movement and swallowing.

Persistent ataxia usually results from damage to the part of your brain that controls muscle coordination (cerebellum). Many conditions can cause ataxia, including alcohol abuse, certain medications, stroke, tumor, cerebral palsy, brain degeneration and multiple sclerosis. Inherited defective genes also can cause the condition.

Symptoms

The word “ataxia” can also be used to describe a symptom of incoordination which can be associated with infections, injuries, other diseases, or degenerative changes in the central nervous system.  Ataxia as a symptom is different from the neurological disease.

Symptoms vary by person and type of Ataxia. Symptom onset and progression vary as well. Symptoms may worsen slowly, over decades – or quickly, over mere months. Common symptoms of Ataxia are lack of coordination, slurred speech, trouble eating and swallowing, eye movement abnormalities, deterioration of fine motor skills, difficulty walking, gait abnormalities, tremors, and heart problems. Individuals with Ataxia often require the use of wheelchairs, walkers, and/or scooters to aid in their mobility.

Causes

Damage, degeneration or loss of nerve cells in the part of your brain that controls muscle coordination (cerebellum), results in ataxia. Your cerebellum comprises two Ping-Pong-ball-sized portions of folded tissue situated at the base of your brain near your brainstem.

The right side of your cerebellum controls coordination on the right side of your body; the left side of your cerebellum controls coordination on the left.

Diseases that damage the spinal cord and peripheral nerves that connect your cerebellum to your muscles also can cause ataxia. Some ataxia causes include:

  • Head trauma. Damage to your brain or spinal cord from a blow to your head, such as might occur in a car accident can cause acute cerebellar ataxia, which comes on suddenly.
  • Stroke. When the blood supply to a part of your brain is interrupted or severely reduced, depriving brain tissue of oxygen and nutrients, brain cells die.
  • Cerebral palsy. This is a general term for a group of disorders caused by damage to a child’s brain during early development — before, during or shortly after birth — that affects the child’s ability to coordinate body movements.
  • Autoimmune diseases. Multiple sclerosis, sarcoidosis, celiac disease and other autoimmune conditions can cause ataxia.
  • Infections. Ataxia can be an uncommon complication of chickenpox and other viral infections. It might appear in the healing stages of the infection and last for days or weeks. Normally, the ataxia resolves over time.
  • Paraneoplastic syndromes. These are rare, degenerative disorders triggered by your immune system’s response to a cancerous tumor (neoplasm), most commonly from lung, ovarian, breast or lymphatic cancer. Ataxia can appear months or years before the cancer is diagnosed.
  • Tumor. A growth on the brain, cancerous (malignant) or noncancerous (benign), can damage the cerebellum.
  • Toxic reaction. Ataxia is a potential side effect of certain medications, especially barbiturates, such as phenobarbital; sedatives, such as benzodiazepines; and some types of chemotherapy. These are important to identify because the effects are often reversible.

Also, some medications you take can cause problems as you age, so you might need to reduce your dose or discontinue the medication.
Alcohol and drug intoxication; heavy metal poisoning, such as from lead or mercury; and solvent poisoning, such as from paint thinner, also can cause ataxia.

  • Vitamin E, vitamin B-12 or thiamine deficiency. Not getting enough of these nutrients, because of the inability to absorb enough, alcohol abuse or other reasons, can lead to ataxia.
    For some adults who develop sporadic ataxia, no specific cause can be found. Sporadic ataxia can take a number of forms, including multiple system atrophy, a progressive, degenerative disorder.

Hereditary ataxias

Some types of ataxia and some conditions that cause ataxia are hereditary. If you have one of these conditions, you were born with a defect in a certain gene that makes abnormal proteins.

The abnormal proteins hamper the function of nerve cells, primarily in your cerebellum and spinal cord, and cause them to degenerate. As the disease progresses, coordination problems worsen.

You can inherit a genetic ataxia from either a dominant gene from one parent (autosomal dominant disorder) or a recessive gene from each parent (autosomal recessive disorder). In the latter case, it’s possible neither parent has the disorder (silent mutation), so there might be no obvious family history.

Different gene defects cause different types of ataxia, most of which are progressive. Each type causes poor coordination, but each has specific signs and symptoms.

Autosomal dominant inheritance pattern

These include:

  • Spinocerebellar ataxias. Researchers have labeled more than 35 autosomal dominant ataxia genes, and the number continues to grow. Cerebellar ataxia and cerebellar degeneration are common to all types, but other signs and symptoms, as well as age of onset, differ depending on the specific gene mutation.
  • Episodic ataxia (EA). There are seven recognized types of ataxia that are episodic rather than progressive — EA1 through EA7. EA1 and EA2 are the most common. EA1 involves brief ataxic episodes that may last seconds or minutes. The episodes are triggered by stress, being startled or sudden movement, and often are associated with muscle twitching.

EA2 involves longer episodes, usually lasting from 30 minutes to six hours, that also are triggered by stress. You might have dizziness (vertigo), fatigue and muscle weakness during your episodes. In some cases, symptoms resolve in later life.

Episodic ataxia doesn’t shorten life span, and symptoms might respond to medication.

Autosomal recessive inheritance pattern

These include:

  • Friedreich’s ataxia. This common hereditary ataxia involves damage to your cerebellum, spinal cord and peripheral nerves. Peripheral nerves carry signals from your brain and spinal cord to your muscles. In most cases, signs and symptoms appear well before age 25.

The rate of disease progression varies. The first indication generally is difficulty walking (gait ataxia). The condition typically progresses to the arms and trunk. Muscles weaken and waste away over time, causing deformities, particularly in your feet, lower legs and hands.

Other signs and symptoms that might develop as the disease progresses include slow, slurred speech (dysarthria); fatigue; rapid, involuntary eye movements (nystagmus); spinal curvature (scoliosis); hearing loss; and heart disease, including heart enlargement (cardiomyopathy) and heart failure. Early treatment of heart problems can improve quality of life and survival.

  • Ataxia-telangiectasia. This rare, progressive childhood disease causes degeneration in the brain and other body systems. The disease also causes immune system breakdown (immunodeficiency disease), which increases susceptibility to other diseases, including infections and tumors. It affects various organs.

Telangiectasias are tiny red “spider” veins that might appear in the corners of your child’s eyes or on the ears and cheeks. Delayed motor skill development, poor balance and slurred speech are typically the first indications of the disease. Recurrent sinus and respiratory infections are common.

Children with ataxia-telangiectasia are at increased risk of developing cancer, particularly leukemia or lymphoma. Most people with the disease need a wheelchair by their teens and die before age 30, usually of cancer or lung (pulmonary) disease.

  • Congenital cerebellar ataxia. This type of ataxia results from damage to the cerebellum that’s present at birth.
  • Wilson’s disease. People with this condition accumulate copper in their brains, livers and other organs, which can cause neurological problems, including ataxia. Early identification of this disorder can lead to treatment that will slow progression

Diagnosis

Ataxia not caused by degeneration from injury or disease – that which is genuinely neurological – is diagnosed using a combination of strategies that may include medical history, family history, and a complete neurological evaluation. Various blood tests may be performed to rule out other possible disorders which may present similar symptoms. Genetic blood tests are now available for some types of hereditary ataxia.

Ataxia results in abnormal proteins that affect nerve cells, primarily in the cerebellum and the spinal cord. Eventually the affected nerve cells begin to function poorly and ultimately degenerate. As the disease progresses, muscles become less and less responsive to commands from the brain, causing coordination problems to become more pronounced.

Autosomal Dominant Ataxia Gene

Each child of a parent with an autosomal dominant Ataxia gene has a 50% chance of inheriting the Ataxia gene. Since the gene is dominant, if a gene is passed on to the child from one parent, the child will develop the disease. Men and women are affected equally.

Autosomal Recessive Ataxia Gene

Autosomal recessive inherited diseases also affect males and females equally, but both parents must be carriers of the Ataxia gene and each must pass on the Ataxia gene to the child for the child to develop the disease. Each child of parents who are carriers of a recessive gene have a 25% chance of developing the disease, a 50% chance of inheriting just one of the Ataxia genes, becoming a carrier themselves, and a 25% chance of inheriting no Ataxia genes.

Because a single recessive Ataxia gene does not cause symptoms, it can be passed on in a family for generations without being recognized. Therefore, there can appear to be no “family history” of Ataxia if the disease was inherited as a recessive gene.

Ataxia Gene Identification

The first Ataxia gene was identified in 1993 for a dominantly inherited type. It was called “Spinocerebellar Ataxia Type1 (SCA1)”. Subsequently, as additional dominant genes were found they were called SCA2, SCA3, etc. Generally, the number behind the SCA refers to the order in which the gene was found. At this time, 36 different gene mutations have been found.

We have dominant Ataxia classifications from SCA1 to SCA36. Genes have also been located for some of the recessive Ataxias; the most common being Friedreich’s Ataxia (FRDA). Ataxia with Oculomotor Apraxia Type 1 and Type 2 (AOA1 and AOA2) have also been identified.

What is Sporadic Ataxia?

There is a large group of people who have symptoms of Ataxia that usually begin in adulthood and who have no known family history of the disease. This is called Sporadic Ataxia and can be difficult to diagnose. There are many acquired and hereditary causes of Ataxia which must be ruled out before a diagnosis of Sporadic Ataxia can be made.

Sporadic Ataxia can be either “pure cerebellar” if only the cerebellum is affected or cerebellar plus, if the Ataxia is accompanied by additional symptoms such a neuropathy, dementia, or weakness, rigidity, or spasticity of the muscles. Disability may be greater and progress more quickly with the cerebellar plus form of Sporadic Ataxia. The cerebellar plus form of sporadic ataxia is also known as Sporadic Olivopontocerebellar Ataxia (Sporadic OPCA) or multiple system atrophy, cerebellar type (MSA-C).

Treatment

Treating Ataxia requires an individualized approach and varies with cause. A person will work closely with their neurologist to develop a plan to address the symptoms of Ataxia. Speech and language therapy, occupational therapy, and physical therapy are common treatment options. They are sometimes used in conjunction with medication therapy to help manage symptoms.

Adaptive devices, such as walkers or canes, might help you maintain your independence. Physical therapy, occupational therapy, speech therapy and regular aerobic exercise also might help.

There is no cure for Ataxia yet.

When to see a doctor

If you aren’t aware of having a condition that causes ataxia, such as multiple sclerosis, see your doctor as soon as possible if you:

  • Lose balance
  • Lose muscle coordination in a hand, arm or leg
  • Have difficulty walking
  • Slur your speech
  • Have difficulty swallowing

Whatever health concerns you have today, making sure you are connected to the right physicians and they have all of your most up to date information is what HealthLynked is all about.  It is the first of its kind social ecosystem designed to “Lynk” patients with their healthcare team in new ways to ensure they receive the best possible care and are restored to the best health possible.

Ready to get “Lynked”?  Go to HealthLynked.com, right now, and get signed up for free.  Your brain will thank you!

Sources:

Ataxia.org

MayoClinic.org

 

 

MAND – Genetics Home Reference

 

  • Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, Tapp C, Mullegama SV, Keelean-Fuller D, Powell CM, Elsea SH, Morton CC, Gusella JF, DuPont B, Chaubey A, Lin AE, Talkowski ME. Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Mol Psychiatry. 2014 Mar;19(3):368-79. doi: 10.1038/mp.2013.42. Epub 2013 Apr 16.
  • Mullegama SV, Elsea SH. Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND). Eur J Hum Genet. 2016 Aug;24(9):1235-43. doi: 10.1038/ejhg.2016.35. Epub 2016 May 25. Review. Erratum in: Eur J Hum Genet. 2016 Aug;24(9):1376.
  • Mullegama SV, Pugliesi L, Burns B, Shah Z, Tahir R, Gu Y, Nelson DL, Elsea SH. MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes. Eur J Hum Genet. 2015 Jun;23(6):781-9. doi: 10.1038/ejhg.2014.200. Epub 2014 Oct 1.
  • Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K, Mitchell E, Hodge JC, Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S, Pyatt RE, Waggoner DJ, Shaffer LG, Lin AE, de Vries BB, Mendoza-Londono R, Elsea SH. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. Eur J Hum Genet. 2014 Jan;22(1):57-63. doi: 10.1038/ejhg.2013.67. Epub 2013 May 1.
  • Tadros S, Wang R, Waters JJ, Waterman C, Collins AL, Collinson MN, Ahn JW, Josifova D, Chetan R, Kumar A. Inherited 2q23.1 microdeletions involving the MBD5 locus. Mol Genet Genomic Med. 2017 Aug 8;5(5):608-613. doi: 10.1002/mgg3.316. eCollection 2017 Sep.
  • Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet. 2011 Oct 7;89(4):551-63. doi: 10.1016/j.ajhg.2011.09.011.
  • Walz K, Young JI. The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome. Rare Dis. 2014 Nov 3;2(1):e967151. doi: 10.4161/2167549X.2014.967151. eCollection 2014.

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How Does Marijuana Affect Your Brain?

As the debate over the federal law against marijuana goes on, more than 4 in 10 Americans say they’ve tried the drug at some point. It messes with your mind while you’re high, but how does marijuana affect your brain in the long run?

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