Archive | May 2023

QUOTE FOR THE WEEKEND:

“The rarest blood type in existence is Rh null blood. This stuff is characterized by a complete lack of antigens in the Rh system, which is the largest blood group system. Besides making someone feel really special, Rhnull and other rare bloods are extremely valuable. Because Rh null blood can be considered ‘universal’ blood for anyone with rare blood types within the Rh system, its life-saving capability is enormous. As such, it’s also highly prized by doctors – although it will be given to patients only in extreme circumstances, and after very careful consideration, because it may be nigh on impossible to replacef”

Discovery (https://www.discovery.com/science/Rhnull-Rarest-Blood-Type-on-Earth)

Rh Null “The Golden Blood Type!”

Blood type (also called blood group) is genetically determined. Blood is primarily categorised based on the presence and/or absence of antigens on the surface of our red blood cells (RBCs). Antigens are distinct molecules or substances capable of coaxing an immune response. Our immune system sends out mini soldiers called antibodies (also known as immunoglobulins), which are special proteins that recognise and bind to these antigens.

If our antibodies recognise these antigens as allies or naturally part of our body, our immune system happily leaves it alone.  But if they detect enemy or foreign antigens, our immune system will go on an all-out war to destroy them. This is the reason you need give the blood type and Rh factor (positive or negative) that a patient is if they need blood transfusions to prevent this destructive action to take place unless your the universal donor type O with no antibodies.  Unfortunately, our immune system isn’t perfect. In rare cases, it does attack ‘self’ antigens, as seen in some cases of autoimmune blood disorders.

You might be familiar with the ABO blood group system. When you ask someone what blood type they are, they might respond with “AB”. They are referring to this most important blood group system in human-blood transfusion. It comprises of only two antigens (antigen A and antigen B), but it can produce these four ABO blood types: A, B, AB or O.  At present, the International Society of Blood Transfusion recognises 36 human blood group systems and more than 300 different antigens.  The most common are type ABO and AB blood types.

Why does Rh positive or negative matter in knowing for your blood type?

The Rh blood group system has a colourful history. It consists of 61 blood group antigens (Rh antigens), which are expressed as part of a protein complex found only in RBC membranes. Rh antigens are believed to be essential for maintaining the integrity of RBCs.

Briefly going back to ABO blood group system, some people might tell you that they’re “O negative” or “A positive”. The negative/positive part refers to the absence or presence of one Rh antigen: the Rh(D) antigen. It’s the main Rh antigen considered for human-blood transfusion.

So what is Rh Null?

People who have the ‘golden blood’ type lack these Rh antigens. Their DNA lacks the genes responsible for building those RBC protein complexes. These people don’t just lack one, two or three of these 61 Rh antigens, they actually lack all of them. Yes, you read that right: all of them. As you might have guessed, people with Rh Null blood type have abnormal RBCs. They have deformed shapes, leaky membranes and shorter lifespans, which sometimes result in mild anaemia for the individual. Still, the absence of all Rh antigens makes Rh null the ‘golden blood’, which is highly admired for its rarity and medical purposes.

Rare blood types within the Rh blood type system can make it difficult or even impossible to get a blood transfusion. This makes Rh Null blood as the ‘universal’ life-saving blood for the Rh blood type system (especially if the donor has an ABO blood type O too).

But rarity comes at a price. If people with Rh Null blood type requires a blood transfusion, they can only receive Rhnull blood themselves. Even if they receive an O-negative blood, the presence of other Rh antigens on the RBCs may trigger a severe immune response. Therefore, these ‘golden blood’ carriers are solely dependent on other Rh Null donors, but only a few of them regularly donate and they are all spread out across the world.

This is why Rh Null blood is considered as the ‘golden blood’, but it’s not all sunshine and rainbows for those people who carry it. Still, we can’t deny the life-saving properties of this rare blood type and we can deeply appreciate the generosity of those selfless donors.

QUOTE FOR FRIDAY:

“Children with Moebius syndrome often have trouble moving their faces.  They may also have trouble feeding. Some children with Moebius syndrome also have abnormal development in the limbs or chest muscles.  Moebius syndrome is not progressive, meaning it does not get worse over time.  Moebius syndrome is very rare. The exact incidence is unknown, but some estimates are 2 to 20 cases per million births.”

Cleveland Clinic (https://my.clevelandclinic.org/health/articles/6064-moebius-syndrome)

Part II Moebius Syndrome

Etiology of Moebius:

Most cases of Moebius syndrome occur randomly for unknown reasons (sporadically) in the absence of a family history of the disorder. The syndrome is listed as Online Mendelian Inheritance in Man (OMIM) Number 15700, with a gene map locus of 13q12.2-q13. Sporadic mutations in PLXND1 and REV3L genes have also been identified in a number of patients and confirmed to cause a constellation of findings consistent with Moebius syndrome when introduced in animal models.

In rare cases, familial patterns have been reported. Most likely, Moebius syndrome is multifactorial, which means that both genetic and environmental factors play some causative role. It is possible that in different cases there are different underlying causes (heterogeneity).
In familial cases, there is evidence that Moebius syndrome is inherited as an autosomal dominant trait. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.

The spectrum of findings in Moebius syndrome suggests a developmental defect of the hindbrain. Several different theories have been proposed to explain the cause of Moebius syndrome. One hypothesis is the disorder is the result of diminished or interrupted blood flow (ischemia) to the developing fetus during pregnancy (in utero). Recent research suggests that the lack of blood affects certain areas of the lower brainstem that contain the cranial nerve nuclei. This lack of blood flow could result from an environmental, mechanical or genetic cause. Nevertheless, cause of the syndrome remains inconclusive and more basic and clinical research is necessary.

Affected Populations:

Moebius syndrome affects males and females in equal numbers. The disorder is present at birth (congenital). The exact incidence and prevalence rates of Moebius syndrome are unknown. One estimate places the incidence at 1 case per 50,000 live births in the United States.

Diagnosis:

A diagnosis of Moebius syndrome is based upon the characteristic signs/symptoms, a detailed patient history, and a thorough clinical evaluation. There are no diagnostic tests that confirm a diagnosis of Moebius syndrome. Some specialized tests may be performed to rule out other causes of facial palsy.

Treatments:

The treatment of Moebius syndrome is directed toward the specific abnormalities in each individual. Usually these children are managed by a multidisciplinary team, often in a craniofacial center. Involved specialists include: pediatricians; neurologists; plastic surgeons; ear, nose, and throat specialists (otolaryngologists); orthopedists; dental specialists; speech pathologists; specialists who assess and treat hearing problems (audiologists), specialists who treat eye abnormalities (ophthalmologists) and other healthcare professionals.

Corrective procedures for facial paralysis involve transfer of muscle and/or graft nerves from another area of the face or the body.

Splints, braces and prostheses may be necessary for individuals with congenital limb abnormalities. Genetic counseling may be of benefit for affected individuals and their families.

QUOTE FOR THURSDAY:

“Moebius syndrome is a rare neurological disorder characterized by weakness or paralysis (palsy) of multiple cranial nerves, most often the 6th (abducens) and 7th (facial) nerves. Other cranial nerves are sometimes affected. The disorder is present at birth (congenital). If the 7th nerve is involved, the individual with Moebius syndrome is unable to smile, frown, pucker the lips, raise the eyebrows, or close the eyelids. If the 6th nerve is affected, the eye cannot turn outward past the midline. Other abnormalities include underdevelopment of the pectoral muscles and defects of the limbs. Moebius syndrome is not progressive. The exact cause is unknown. It appears to occur randomly (sporadically) in most cases; however, some cases occur in families suggesting that there may be a genetic component.”

NORD (https://rarediseases.org/rare-diseases/moebius-syndrome/)

Part I Moebius Syndrome

 

Moebius syndrome is a rare neurological disorder characterized by weakness or paralysis (palsy) of multiple cranial nerves, most often the 6th (abducens) and 7th (facial) nerves. Other cranial nerves are sometimes affected. The disorder is present at birth (congenital). If the 7th nerve is involved, the individual with Moebius syndrome is unable to smile, frown, pucker the lips, raise the eyebrows, or close the eyelids. If the 6th nerve is affected, the eye cannot turn outward past the midline. Other abnormalities include underdevelopment of the pectoral muscles and defects of the limbs. Moebius syndrome is not progressive. The exact cause is unknown. It appears to occur randomly (sporadically) in most cases; however, some cases occur in families suggesting that there may be a genetic component.

Introduction:

Congenital facial and abducens palsy was first described by Von Graefe (1880) and Moebius (1888), a German neurologist after whom the syndrome was later named.

Signs and Symptoms:

The abnormalities and severity of Moebius syndrome vary greatly from one person-to-another. The classically accepted diagnostic criteria include: 1) facial paralysis or weakness affecting at least one but usually both sides of the face (7th cranial nerve), 2) paralysis of sideways (lateral) movement of the eyes (6th cranial nerve); and 3) preservation of vertical movements of the eyes. Less often, other cranial nerves, including the 5th, 8th, 9th, 10th, 11th, and 12th may be affected.

Infants with Moebius syndrome may drool excessively and exhibit crossed eyes (strabismus). Because the eyes do not move from side-to-side (laterally), the child is forced to turn the head to follow objects. Infants who lack facial expression often are described as having a “mask-like” face that is especially obvious when laughing or crying. Affected infants may also have difficulties feeding, including problems swallowing and poor sucking. Corneal ulceration may occur because the eyelids remain open during sleep.

There are a wide variety of additional abnormalities. Some children with Moebius syndrome have a short, malformed tongue and/or an abnormally small jaw (micrognathia). Cleft palate may also be present. These abnormalities contribute to feeding and breathing difficulties. Children with cleft palate are prone to ear infections (otitis media). There may be external ear anomalies including underdevelopment of the outer portion of the ear (microtia) or total absence of the outer portion of the ear (anotia). If the 8th cranial nerve is affected, there is likely hearing loss. Dental abnormalities are not uncommon. There is an increased risk for childhood cavities. Some affected children have difficulties with speech and delays in speech development.

Skeletal malformations of the limbs occur in over half of children with Moebius sydrome. Lower limb malformations include clubbed feet and underdevelopment of the lower legs; upper extremities may have webbing of the fingers (syndactyly), underdevelopment or absence of the fingers, and/or underdevelopment of the hand. In a few children there may be abnormal side-to-side curvature of the spine (scoliosis), and in approximately 15% of patients underdevelopment of the chest (pectoral) muscles and the breast on one side of the body also occur (see Poland-Moebius syndrome in the Related Disorder section below).

Some affected children exhibit delay in attaining certain milestones such as crawling or walking, most likely due to upper body weakness; however, most children eventually catch-up. Moebius syndrome rarely is associated with minor intellectual disability. Some children have been classified as being on the “autistic spectrum”. The exact relationship between Moebius syndrome and autism is unknown. Some studies have suggested that autism spectrum disorders occur with greater frequency in children with Moebius syndrome; other studies have not confirmed this and suggest that any such relationship is overstated. Moebius syndrome is often associated with a variety of social and psychological consequences. The lack of facial expressions and the inability to smile can cause observers to misinterpret what an affected individual is thinking or feeling or intends. Although clinical anxiety and depression are not more common in children and adolescents with Moebius syndrome, affected individuals may avoid social situations due to apprehension and frustration.

 

 

QUOTE FOR WEDNESDAY:

“Since 1984, the Asthma and Allergy Foundation of America (AAFA) has declared May to be “National Asthma and Allergy Awareness Month.

More than 100 million people in the United States have asthma and/or allergies. Some people may have more than one of these conditions.

  • Nearly 26 million people in the U.S. have asthma (20.7 million adults and 4.8 million children).1,2
  • About 20 million people in the U.S. have food allergies (16.0 million adults and 4.3 million children).3,4
  • About 80 million people in the U.S. have rhinitis due to nasal allergies, also called “hay fever” (66.4 million adults and 13.9 million children).3,4
  • There is no cure for asthma or allergies.

Allergies are one of the most common chronic diseases. A chronic disease lasts a long time or occurs often. An allergy occurs when the body’s immune system sees a substance as harmful and overreacts to it.  It is a long-term disease that causes your airways to become swollen and inflamed, making it hard to breathe. There is no cure for asthma, but it can be managed and controlled.”

Asthman and Allergy Foundation of America (https://aafa.org/asthma/)

QUOTE FOR TUESDAY:

“Your healthcare provider will take your medical history and give you a physical exam. Tests may also be done. These include BLOOD TESTS:

First checking Blood Lab Tests like-1-Antinuclear antibody (ANA) test. This checks antibody levels in the blood, 2-Complete blood count (CBC). This checks if your white blood cell, red blood cell, and platelet levels are normal, 3-Creatinine This test checks for kidney disease,4-Sedimentation rate(ESR) This test can find inflammation, 5-Hematocrit. This test measures the number of red blood cells, in particular the solids in your blood strean versus the fluid in the bloodstream.,6-RF (rheumatoid factor) and CCP (cyclic citrullinated peptide) antibody tests. These can help diagnose rheumatoid arthritis. They can also assess how severe the disease is.,7-White blood cell count. This checks the level of white blood cells in your blood, elevated infection., and 8-Uric acid. This helps diagnose gout (it would be elevated).

Other tests may be done, such as:Joint aspiration (arthrocentesis). A small sample of synovial fluid is taken from a joint. It’s tested to see if crystals, bacteria, or viruses are present.X-rays or other imaging tests. These can tell how damaged a joint is.Urine test. This checks for protein and different kinds of blood cells.HLA tissue typing. This looks for genetic markers of ankylosing spondylitis.Skin biopsy. Tiny tissue samples are removed and checked under a microscope. This test helps to diagnose a type of arthritis that involves the skin, such as lupus or psoriatic arthritis.Muscle biopsy. Tiny tissue samples are removed and checked under a microscope. This test helps to diagnose conditions that affect muscles.”.

John Hopkins Hospital (https://www.hopkinsmedicine.org/health/conditions-and-diseases/arthritis)

Part II Arthritis – Possible causes, things that make the arthritis worse, & how to prevent or decrease arthritis!

Possible causes of arthritis:

1.) It’s not known what causes inflammatory arthritis in every person, but the general consensus is that something in the environment — a virus, stress or smoking, for examples — can trigger it in people who are genetically predisposed. Recent research has also highlighted the complex and critical role of gut microbes in immune-related inflammatory diseases like RA and PsA.

2.) The trillions of mostly friendly bugs that live in your gut, skin and mouth, collectively called the microbome, regulate immune cells throughout the body and shape how the immune system functions in various diseases. When these vast microbial communities get out of balance due to poor diet, antibiotic treatment, stress or some other factor, they may no longer regulate the immune response in a normal way. This is thought to be one of the key contributing factors to RA and other autoimmune-related inflammatory conditions.

With autoimmune and inflammatory types of arthritis, early diagnosis and treatment are critical. Slowing disease activity can help minimize or prevent permanent joint damage as well as reduce pain and improve function and quality of life. Remission (defined as little to no disease activity) is always the goal, but low disease activity may be a more realistic target for some people.

This is usually best achieved with a combination of medications and a healthy lifestyle — regular exercise, restful sleep, healthy food choices and less stress. The medication depends on the type of arthritis, the severity of symptoms and how well someone responds to a particular drug, which is based on patient to patient (individual). For some people, the first medicine tried may not be the best fit. And some arthritis drugs can have unpleasant side effects or lose their effectiveness over time. It may take a few tries to find the right medication.

Treatments vary depending on the type of arthritis. The main goals of arthritis treatments are to reduce signs or symptoms and improve quality of life through Occupational or Physical Therapy and/or through medications, the old way.

Things that make arthritis worse:

1.)Meds not the case always in resolving the arthritic problem. Conventional medicine through doctors ordering medications (see Dr. David Brownstein’s website for his Natural Way to Health (with his book) to overcome arthritis). Drugs rarely CURE things. We are trained to believe doctors have all the answers with medications or surgeries in resolving our health problem. It’s unnatural with arthritis and many other diagnoses. Natural therapies and good foods are not taken seriously by enough people in America in regards to helping a condition, like arthritis, or even prevention (which should be your first intervention, don’t wait for the diagnosis).

2.)Infection – check if a bacterial infection started your arthritis. If that is the cause antibiotics, low dose some doctors have given to people in studies and have worked. You would think this would be used more often, at least in testing for before just prescribing anti-inflammatory or analgesics meds. If its infection you need to kill the bacteria and the only way to do that it is with an antibiotic which kills a bacterial infection.

3.)DIET – Too many sugars or chemical preservatives and sweeteners which is in the standard American diet. Processed Foods are BAD.  The same foods that cause obesity, diabetes and coronary artery disease can easily cause arthritis. Increase your fruits and nuts in your diet. Vitamin C and E are good for you. Pomegrante extract also.

4.) Dehydration– main causes of arthritis. Many simplify the problem. Your joints need water and if not enough it will cause an auto immune response=inflammation and get worse with processed foods.

5.) Heavy metal toxicity-Mercury, Arsenic and Nickel it includes. Not a fluke and mercury is one of the worst metals to have toxic in your body. Fish is the second worst source of heavy metal food. Few things you can do now, eat tuna occasionally. Silver malcum fillings have your dentist remove. Have your doctor do a heavy metal toxicity test on you if you never had one done and with arthritis.

6.) Low or imbalances of hormones=headache, faster aging, fatigue/lethargy, skin wrinkling sooner in life. Synthetic hormones don’t perform as well in your body and can lead to problems. Female hormones   can increase your chance to breast cancer for example.

7.) Along with Diet also bodyweight impact on arthritis

Experts say that eating a well-balanced diet is vital when you have arthritis. Not only will you be receiving critical nutrients, you will also be either maintaining or arriving more quickly at a healthy bodyweight. If you are overweight you will be adding extra pressure on weight-bearing joints. Many patients have found that losing just a few pounds made a significant difference to their quality of life. Doctors and nutritionists are more frequently advising arthritis patients to keep sugary and/or fatty foods to a minimum – such as red meat, cream and cheese. You should make sure you are eating plenty of fruit and vegetables, as well as whole grains. Omega-3 essential fatty acids are thought to relieve to some extent the symptoms of arthritis. A common source of Omega-3 fatty acids is oily fish, such as sardines, herring, trout, and salmon. Many of us tend to place large portions on our plate. If you reduce the size of the portions you may lose weight more effectively. Make sure that vegetables and fruit make up a large part of your portion.

How to prevent or decrease arthritis:

1.Maintain a good body weight.  You put more pressure on the joints.  “Every extra pound of weight you have on is 4 pounds of pressure on the weight-bearing joints, like your knees and hips,” explains Scott Zashin, MD, a board-certified rheumatologist and clinical professor of medicine at the University of Texas Southwestern Medical School.

2.Trade in your high heels.  Zashin recommends biking or water exercises for those looking to stay active and practice arthritis prevention.

3.Do non-impact exercises..Zashin recommends biking or water exercises for those looking to stay active and practice arthritis prevention.

4.Use better body mechanics. When performing physical tasks, like lifting objects, how you hold your body (and any weight you’re carrying) matters. “People with bad body mechanics may be predisposed to develop arthritis,” says Zashin.

5.Avoid injuries.“Avoiding injury will decrease the risk of developing arthritis later in life,” says Zashin, who points out the connection between injuries and osteoarthritis in football players who develop arthritis pain years after retiring. Though most women aren’t playing football, other injury types can cause problems.

6.Check your vitamin D. According to the National Institutes of Health, about 60 percent of Americans are deficient in vitamin D, and women, especially African-American women and those of menopausal age, are especially likely to be lacking adequate levels. Asking your doctor to check your vitamin D levels is a smart move for arthritis prevention. “Patients who have adequate levels of vitamin D have less progression of osteoarthritis,” Zashlin says.

7.Stay hydrated. Another reason to drink more water: arthritis prevention. The cartilage in our joints is made up mostly of water, which is what makes it such a great cushion for the joints. When we’re dehydrated, water gets sucked out of the cartilage and it’s more easily damaged by wear and tear. This can be seen in people with osteoarthritis of the spine or degenerative disk disease, says Zashin.

QUOTE FOR MONDAY:

“An estimated 58.5 million US adults have arthritis. Experts believe that number will grow as our nation’s population gets older.  Arthritis is a leading cause of work disability among US adults.  An estimated 25.7 million adults are limited in their usual activities because of arthritis. That number is expected to grow to 35 million by 2040.  Arthritis is common among people with other chronic conditions including obesity, diabetes, and heart disease.”.

CDC Centers for Disease Control and Prevention (https://www.cdc.gov/arthritis/basics/arthritis-fast-facts.html)