Alagille syndrome is a rare, life-threatening multisystem disease that often presents in childhood. With Alagille syndrome, bile ducts are abnormally narrow, malformed, and reduced in number, which leads to toxic accumulation of bile acids in the liver and, ultimately, progressive liver disease.

Alagille syndrome is an inherited condition in which bile builds up in the liver because there are too few bile ducts to drain the bile. This results in liver damage. Your liver makes bile to help remove waste from your body. It also helps digest fats and the fat-soluble vitamins A, D, E, and K.

Alagille syndrome is an autosomal dominant disorder caused by mutations/deletions:

Disruptions in these genes cause defective bile duct morphogenesis and impaired angiogenesis, and abnormalities in skeletal, ocular, cardiovascular, and kidney development. Although 30% to 50% of individuals have an inherited pathogenic variant, the mutation occurs de novo in 50% to 70% of cases.

It is imperative to help out with early diagnosis.

Signs and symptoms vary:

They could be from liver damage in Alagille syndrome may include a yellowish tinge in the skin and the whites of the eyes (jaundice), itchy skin, and deposits of cholesterol in the skin (xanthomas).

“Breastfeeding has many benefits for you and your baby. It helps build your baby’s immune system and offers the perfect nutrition. Some of the health benefits to you include a lower risk of breast and ovarian cancer.

Breast milk contains everything your baby needs to grow and develop. It provides a unique and specific formula of vitamins, minerals and antioxidants.

Breast milk supports your baby’s health because it:

• Is easy for their immature tummy and intestines to digest.
• Contains antibodies that protect against infection and boost immunity.
• Has the right amount of fat, sugar, water, protein and vitamins for your baby’s development.
• Promotes healthy weight gain.
• Changes in composition to meet your baby’s nutritional needs over time.
• Contains substances that naturally soothe your baby.”

Cleveland Clinic (https://my.clevelandclinic.org/health/articles/15274-benefits-of-breastfeeding)

EYES and how our health is vital in keeping the eyes working EFFECTIVELY.

Like all organs if your diet is not healthy you’ll effect their functioning, including your eyes. Take for example the ingredients you include in the foods & fluids you eat. Just like how some drink from one up to three thousand cc’s of water a day to help prevent dehydration in their tissues if they work out daily from a gym to running miles outside OR take someone who simply includes calcium in their diet for their bones. Well what is good for the eyes and what can you do to help both your eyes?

Get an annual comprehensive dilated eye exam, know your families eye history since many eye diseases are through heredity, eat an eye healthy & well-balanced diet rich in salmon, tuna, dark leafy greens, colored vegetables and fruits, wear sunglasses with UV protection and avoid smoking (which effects the body everywhere, including the eyes).

What ingredients do we need in our dieting that is so vital for the eyes to stay at their healthiest level?

Well Lutein and Zeaxanthin (Pronounced loo’teen and Zee’-a-zan-thin)-Powerful antioxidants naturally present in the macula (the part of the retina that is responsible for central vision). Remember damage to the retina causes some degree of lack of vision to 100% blind. Lutein and Zeaxanthin are critical for helping to filter out harmful blue light, which can damage the macula. These vital antioxidants cannot be produced by our bodies on their own, so they must be obtained through diet and/or supplements (ex. Ocuvite Supplements in the store).

Another ingredient we need in our diet is Omega 3 Fatty Acids which is a family of fatty acids that help protect our eyes by keeping them healthy. Omega 3 is an important structural lipid in the retina and helps support proper function; and is vital for the health of your eyes as you age. Lastly it helps promote healthy tear production necessary for healthy and comfortable eyes.

Other Nutrients Antioxidants Vitamins C and E, Zinc and beta carotene. They help protect eyes from oxidative stress (Oxidative stress reflects an imbalance between the systemic manifestation of reactive oxygen species and a biological system’s ability to readily detoxify the reactive intermediates or to repair the resulting damage and oxidative stress can cause disruptions in normal mechanisms of cellular signaling. It is thought to be involved in the development of many diseases.)

What Your Diet or Daily Health Habits May Be Missing:

–Many dark leafy greens and brightly colored vegetables (including orange foods) are rich in Lutein and Zeaxanthin. We all heard about carrots (to get Beta-carotene)

–Oil-rich fish such as tuna and salmon along with nuts and fortified eggs are an excellent source of omega-3s. Omega-3s: A family of fatty acids that help protect the eye to keep it healthy, another important nutrient for your eyes

Unfortunately, many of us do not consume enough of these eye-healthy foods in our daily diets. What should you have in your diet to eat per day to equal the amount of Lutein and Zeaxanthin you should have daily:   5 cups of broccoli, 6 cups of corn, 1 ounce of salmon or 4 ounces of tuna. A lot of vegetables in cups but if you mix your foods in the 4 food groups that are healthy for the eye or just simply take supplements that your doctor recommends for eye health you won’t be eating cups and cups of vegetables if you don’t like the taste.

*Other foods high in omega 3 are halibut, spinach, collard and kale.

VITAL NUTRIENTS FOR GETTING THE EYES HEALTHY.

Many eye diseases can’t be avoided (like born blind) but there are many diseases that could have been avoided through prevention tactics in what you eat and in what you practice as your daily habits. For example some that could be prevented if not slowed down or suppressed in the intensity of the disease can be Age-Related Macular Degeneration, Cataracts, Dry Eye Syndrome and more.                                                                                                                

Factors that also influence how our eyes turn out are:

–Being overweight or obese is a factor that increases your risk of developing diabetes and other systemic conditions which can lead to vision loss, such as diabetic eye disease (macular degeneration) or even glaucoma. If you’re having trouble maintaining a healthy weight, talk to your doctor or go to my website with Dr. Anderson available to help you understand how the body works with calories/sugars, carbohydrates, starches, fats, and sugars; with understanding how portions of meals work with digestion and how it can put weight on the body.

–If you do a lot of work daily on a computer or on any one thing, your eyes may forget to blink or get very fatigued, so attempt to do every 20 minutes looking away from the computer or one thing your focused on for hours (like at work) for 20 seconds. This helps your eyes in reducing eyestrain (it is an actually an exercise for the eye).

–Clean your hands and your contact lenses properly. This is to avoid local infection in the eye. Always wash your hands before putting in and taking out the contact lenses. Follow your doctors and contact lenses website in keeping your eyes healthy and safe with using their service for your lenses.

–Practice workplace eye safety as their organization policy and procedure states but also use common sense with wearing eye goggles when doing work around the house that puts you at risk for eye damage (like weed whacking, painting, using saws etc…)

Our health care system is in a disaster but gradually improving and lets add to improving it for us now and ten years from now and for future generations to decrease the amount of disease and illness in our country with giving our government a reason to decrease the price in our health care system (including insurances). Please if you have any diseases or illnesses on your mind with questions that you have let me know in my comment section and I will personally try to make it the next article if not sometime that week. Thank you for reading my post.

References: 1.)http://www.ocuvite.com

Children eye health and safety month

August Is Children’s Eye Health and Safety Month!

It’s almost back-to-school time and are you prepared with your child’s enrollment forms, orientation schedules, and immunizations–but what about their eyes?

August is Children’s Eye Health and Safety Month—a great signal for you to get your child’s eyes checked before school starts.

Let’s Talk Eye Safety:

Use this month to discuss the importance of eye safety with your children.

CDC states “Approximately 6.8% of children younger than 18 years in the United States have a diagnosed eye and vision condition. Nearly 3 percent of children younger than 18 years are blind or visually impaired, defined as having trouble seeing even when wearing glasses or contact lenses.”.

Children should:

• Wear protective eyewear while participating in sports or recreational activities
• Play with are age-appropriate toys. Avoid toys with sharp or protruding parts

One of the best ways to ensure your child keeps his/her good vision throughout life is to set a good health example.

Talk to your child’s pediatrician if you suspect your child has any of the eye diseases below:

-Amblyopia (lazy eye) – also known as lazy eye, is a vision development disorder in which an eye fails to achieve normal visual acuity, even with prescription eyeglasses or contact lenses. Amblyopia begins during infancy and early childhood. In most cases, only one eye is affected. However, a common cause of amblyopia is strabismus. So if you notice your baby or young child has crossed eyes or some other apparent eye misalignment, schedule an appointment for a children’s eye exam immediately — preferably with an optometrist or ophthalmologist who specializes in children’s vision.

Another clue that your child may have amblyopia is if he or she cries or fusses when you cover one eye.

You can try this simple screening test at home by simply covering and uncovering your child’s eyes (one eye at a time) when he or she is performing a visual task, such as watching television.

-Strabismus (crossed eyes) – Strabismus is a condition that interferes with binocular vision because it prevents a person from directing both eyes simultaneously towards the same fixation point; the eyes do not properly align with each other. Heterotropia is a medical synonym for the condition. Colloquial terms for strabismus include “cross-eye”, “wall-eye”, and a “cast of the eye”. Strabismus in children does not go away on its own and strabismus in adults is treatable, so strabismus treatment is necessary.

-Ptosis (drooping of the eyelid) – Ptosis” is the medical term for a drooping upper eyelid. Eyelid drooping can sometimes affect your vision if it’s severe. Ptosis isn’t a disease. It’s actually a symptom of a condition that you should seek treatment for. Many things can cause ptosis. Some causes being stroke, diabetic neuropathy, myasthenia gravis, muscular dystrophy, botulism, brain aneurysm, adult brain tumor, pituitary cancer, & necrotizing vaculitis. An eye doctor will diagnose ptosis by carefully examining the eyelids. He or she will take detailed measurements of the height of the eyelids and will assess the strength of the eyelid muscles.Surgery can be an effective treatment for ptosis in both children and adult, improving vision as well as cosmetic appearance. It is very important that children with ptosis have regular ophthalmic examinations early in life to monitor their vision and prevent severe vision loss from untreated amblyopia..

-Color deficiency (color blindness) – Two of the most common inherited forms of color blindness are protanopia and deuteranopia. Color vision deficiency (sometimes called color blindness) represents a group of conditions that affect the perception of color. Red-green color vision defects are the most common form of color vision deficiency which is in about 8 percent and 0.5 percent of females of European (northern) ancestry. Affected individuals have trouble distinguishing between some shades of red, yellow, and green. Blue-yellow color vision defects (also called tritan defects), which are rarer, cause problems with differentiating shades of blue and green and cause difficulty distinguishing dark blue from black. These two forms of color vision deficiency disrupt color perception but do not affect the sharpness of vision (visual acuity).

A less common and more severe form of color vision deficiency called blue cone monochromacy causes very poor visual acuity and severely reduced color vision. Affected individuals have additional vision problems, which can include increased sensitivity to light (photophobia), involuntary back-and-forth eye movements (nystagmus), and nearsightedness (myopia). Blue cone monochromacy is sometimes considered to be a form of achromatopsia, a disorder characterized by a partial or total lack of color vision with other vision problems

-Refractive errors (nearsightedness, farsightedness and astigmatism) – The most common types of refractive errors are myopia, hyperopia, presbyopia, and astigmatism. Myopia (nearsightedness) is a condition where objects up close appear clearly, while objects far away appear blurry. With myopia, light comes to focus in front of the retina instead of on the retina.

What are refractive errors?

Refractive errors occur when the shape of the eye prevents light from focusing directly on the retina. The length of the eyeball (longer or shorter), changes in the shape of the cornea, or aging of the lens can cause refractive errors.

What is refraction?

Refraction is the bending of light as it passes through one object to another. Vision occurs when light rays are bent (refracted) as they pass through the cornea and the lens. The light is then focused on the retina. The retina converts the light-rays into messages that are sent through the optic nerve to the brain. The brain interprets these messages into the images we see.

Frequently Asked Questions about Refractive Errors

What are the different types of refractive errors?

The most common types of refractive errors are myopia, hyperopia, presbyopia, and astigmatism.

Myopia (nearsightedness) is a condition where objects up close appear clearly, while objects far away appear blurry. With myopia, light comes to focus in front of the retina instead of on the retina.

Hyperopia (farsightedness) is a common type of refractive error where distant objects may be seen more clearly than objects that are near. However, people experience hyperopia differently. Some people may not notice any problems with their vision, especially when they are young. For people with significant hyperopia, vision can be blurry for objects at any distance, near or far.

Astigmatism is a condition in which the eye does not focus light evenly onto the retina, the light-sensitive tissue at the back of the eye. This can cause images to appear blurry and stretched out.

Presbyopia is an age-related condition in which the ability to focus up close becomes more difficult. As the eye ages, the lens can no longer change shape enough to allow the eye to focus close objects clearly.

Risk Factors

Who is at risk for refractive errors?

Presbyopia affects most adults over age 35. Other refractive errors can affect both children and adults. Individuals that have parents with certain refractive errors may be more likely to get one or more refractive errors.

Symptoms and Detection

What are the signs and symptoms of refractive errors?

Blurred vision is the most common symptom of refractive errors. Other symptoms may include:

• Double vision
• Haziness
• Glare or halos around bright lights
• Squinting
• Headaches
• Eye strain

• How refractive errors are diagnosed?

• An eye care professional can diagnose refractive errors during a comprehensive dilated eye examination. People with a refractive error often visit their eye care professional with complaints of visual discomfort or blurred vision. However, some people don’t know they aren’t seeing as clearly as they could.

• How are refractive errors treated?

• Eyeglasses are the simplest and safest way to correct refractive errors. Your eye care professional can prescribe appropriate lenses to correct your refractive error and give you optimal vision.If you have certain eye conditions you may not be able to wear contact lenses. Discuss this with your eye care professional.
• Refractive Surgery aims to change the shape of the cornea permanently. This change in eye shape restores the focusing power of the eye by allowing the light rays to focus precisely on the retina for improved vision. There are many types of refractive surgeries. Your eye care professional can help you decide if surgery is an option for you.
• Contact Lenses work by becoming the first refractive surface for light rays entering the eye, causing a more precise refraction or focus. In many cases, contact lenses provide clearer vision, a wider field of vision, and greater comfort. They are a safe and effective option if fitted and used properly. It is very important to wash your hands and clean your lenses as instructed in order to reduce the risk of infection.
• Refractive errors can be corrected with eyeglasses, contact lenses, or surgery

“The research picture has brightened considerably in the last decade for people with chromosome 5-related spinal muscular atrophy (SMA) types 0 through 4.

Research Trials for SMA leading to actual care for SMA:

The research picture has brightened considerably in the last decade for people with chromosome 5-related spinal muscular atrophy (SMA) types 0 through 4.

Since 1995, scientists have known that a deficiency of functional SMN protein (SMN stands for survival of motor neuron) is the underlying cause of chromosome 5 SMA. Two nearly identical genes carry the genetic instructions for making SMN protein: SMN1 and SMN2. Proteins made from the SMN1 gene are full-length, functional, and appear to be necessary for the survival and proper function of motor neurons. By contrast, proteins made using instructions from the SMN2 gene are shorter and tend to be less stable but can compensate for a lack of SMN protein when the SMN1 gene is not functioning.

In SMA types 0 through  4, flaws (mutations) in each of the two copies of the SMN1 genes result in insufficient production of full-length, functional SMN protein. Fortunately, a certain amount of full-length SMN protein can be made from the SMN2 gene. Many people have multiple copies of the SMN2 gene. These extra SMN2 copies can lessen the impact of a flaw in both SMN1 copies. In chromosome 5-related SMA, the more copies of SMN2 a person has, the milder the course of SMA is likely to be.

Researchers are seeking to exploit this unique redundancy through development of strategies that restore levels of full-length SMN protein.

1- Nusinersen is a drug that has been shown to increase the survival of motor neurons that die off in SMA, robbing children of muscle control. The drug compensates for the effects of the SMN1 mutation by rallying a “backup” gene, known as SMN2. SMN2, like SMN1, also makes the SMN protein needed to keep motor neurons healthy, but most of it is truncated and nonfunctional. Nusinersen uses a genetically based technology called antisense oligonucleotide to shore up this backup gene. This enables people to make more of the full-length, functional SMN protein.

2-Risdiplam is an oral drug taken daily that also appears to boost the production of the SMN protein through the SMN2 gene. Our researchers are an essential part of the clinical testing of risdiplam in the FIREFISH and JEWELFISH studies, which both continue to look at the drug’s efficacy and side effects in infants through adults.

The FIREFISH study involves infants age 1 month to 7 months with infantile-onset SMA, the most severe type. The babies receive risdiplam given as an oral drug daily. The drug increases SMN protein in the infants and improves their ability to sit without support. After two years of treatment, the FIREFISH study shows that 59 percent of treated babies were able to sit without support for five seconds, 65 percent maintained upright head control, 29 percent were able to turn over, and 30 percent were able to stand with support or supporting weight.

One-year results from the JEWELFISH study of risdiplam in children with all types of SMA aged 6 months to 60 years and previously treated with other SMA therapies, showed that risdiplam increases SMN protein levels. The drug appears to double SMN levels among patients who were previously treated with nusinerson or Zolgensma, highlighting its potential as an alternative or add-on therapy to those drugs.

3-Gene Therapy Trials:  To learn more about the potential for gene replacement in children with SMA, we have been involved in several clinical studies. The first, the STR1VE trial, studied intravenous administration of the therapy in infants less than 7 months of age with type 1 SMA. This trial, which followed infants until they were 18 months old, provided the data used by the FDA to approve Zolgensma for the treatment of babies under 2 years.

The STRONG study involves intrathecal (inside the spinal canal) administration of the gene therapy for children between the ages of 6 months to 5 years with SMA type 2. STRONG is on an FDA-hold pending evaluation of pre-clinical information.

Treatment for SMA:

As yet, there is no complete cure for SMA. However, the discovery of the genetic cause of SMA has led to the development of several treatment options that affect the genes involved in SMA — a gene replacement therapy called Zolgensma, and two drugs, called nusinersen (Spinraza) and risdiplam (Evyrsdi).

There is no complete cure for SMA. Treatment consists of managing the symptoms and preventing complications.

Medications

• The U.S. Food and Drug Administration (FDA) approved nusinersen (Spinraza™) as the first drug approved to treat children and adults with SMA. The drug is designed to increase production of the SMN protein, which is critical for the maintenance of motor neurons.
• The FDA approved onasemnogene abeparovec-xioi (Zolgensma ™) gene therapy for children less than two years old who have infantile-onset SMA. A safe virus delivers a fully functional human SMN gene to the targeted motor neurons, which in turn improves muscle movement and function and survival.
• The FDA approved the orally-administered drug risdiplam (Evrysdi) to treat patients age two months of age and older with SMA.

Physical therapy, occupational therapy, and rehabilitation may help to improve posture, prevent joint immobility, and slow muscle weakness and atrophy. Stretching and strengthening exercises may help reduce contractures, increase range of motion, and keeps circulation flowing. Some individuals require additional therapy for speech and swallowing difficulties. Assistive devices such as supports or braces, orthotics, speech synthesizers, and wheelchairs may be helpful to improve functional independence.

Proper nutrition and calories are essential to maintaining weight and strength, while avoiding prolonged fasting. People who cannot chew or swallow may require insertion of a feeding tube. Non-invasive ventilation at night can improve breathing during sleep, and some individuals also may require assisted ventilation during the day due to muscle weakness in the neck, throat, and chest.

“Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by loss of motor neurons in the anterior horn of the spinal cord and resultant weakness. The most common form of SMA, accounting for 95% of cases, is autosomal recessive proximal SMA associated with mutations in the survival of motor neurons (SMN1) gene.”

National Library of Medicine (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3860273/)