Jaundice is a condition in which the skin, eyes, or mucus membranes turn yellow in color. The coloring comes from the byproduct of old red blood cells, called bilirubin. Jaundice usually indicates a more serious health issue.
The liver rids the body of red blood cells that have died, which is a naturally and daily occurring activity. However, if the liver is damaged, these red blood cells may not be cleared. As a result, they release bilirubin, which shows up as yellowing of the eyes or skin. Jaundice also occurs if too many blood cells are dying or if bilirubin is unable to move through the digestive tract. Alcohol abuse may also lead to jaundice, as it impairs liver function.
Yellowed skin and eyes, inside of mouth is yellowed, dark/brown-colored urine, or pale or clay-colored stools.
Since there are multiple possibilities of the cause of jaundice, a diagnostic is run to see the cause. Once the cause is determined, doctors may administer treatments such as a removal of a gallstone blocking the bile duct or a liver biopsy to determine antibiotics needed.
Unless mistreated or left untreated, patients will make a recovery from jaundice, providing that the underlying symptom is treated.
12:06 pm • 24 February 2012 • 2 notes
Williams syndrome is a rare genetic disorder that causes developmental problems. It is mostly known for cardiovascular disease and learning disorders as well as a social personalities and affinity for music, which may be present side-by-side. It affects about 1 in 10,000 people, with an estimated 20,000 to 30,000 in the United states alone.
Williams syndrome is a deletion of about 25 different genetic factors on chromosome 7. One of the deletion codes for elastin, which is found in connective tissue as well as cardiovascular tissue.
Delayed speech and/or a speaking disability, developmental delay, ADD, clinodactyly (inward bend of small finger), learning disorders, mild to moderate retardation, shorter than others in family, pectus excavatum (sunken in chest), unusual appearance of face (flattened nasal bridge with upturned nose, long ridges in skin that run from nose to upper lip, prominent lips with open mouth, epicanthal folds (skin that covers inner corner of eye), partially missing teeth/defective tooth enamel/ small, widely spaced teeth). These symptoms may also be accompanied with certain personality traits, such as being very friendly, trusting strangers, fearing loud sounds, fearing physical contact, and/or interest in music.
There is no known cure for Williams Syndrome. Tests for Williams Syndrome are blood pressure checks, FISH test (tests for missing chromosome), echocardiography with Doppler ultra sound, and a kidney ultrasound. Most patients are warned against diets high in vitamin d and calcium. Some patients will receive physical therapy if joint stiffness arises. Some patients may also receive treatment for learning disabilities or speech therapy.
It is estimated that 75% of all patients suffer from mental retardation. Most patients will live out a normal lifespan, but may need a permanent caregiver or residential care (supervised group homes).
12:07 pm • 23 February 2012 • 13 notes
AOA (Ataxia with Oculomotor Apraxia) Type 1
AOA type 1 is a genetic disorder that affects the nerve cells, resulting in movement problems. Type 1 is a rare form of AOA, affecting about 1 in 55 million. It is autosomal recessive.
AOA type 1 is inherited in a recessive pattern, which means that the affected offspring would have to receive the mutation. The mutation comes from the APTX gene, responsible for a protein, aprataxin, responsible in DNA repair. Because of this mutation, aprataxin is unable to function properly, resulting in an unstable aprataxin protein that is broken down too quickly within the cell.
All symptoms are based on the individual patient and progression of the disease, as well as the age of onset. Typically, symptoms arise at about age seven.
These symptoms include: abnormal gait (walking), ataxia (loss of full control of movements), incoordination, neurological function anomalies, speaking difficulty, limb dysmetria, difficulty moving eyes, distal muscle weakness and/or wasting, oculomotor apraxia (inability to move eyes horizontally), intention tremor (tremor during voluntary movement), loss of reflexes, peripheral neuropathy (unusual or abnormal sensations in extremities), quadriplegia, loss of ability to walk, short hands and/or feet, wasted hand and/or foot muscles, increased blood cholesterol levels, and decreased blood albumin levels.
There is no known cure for AOA type 1. Many patients receive physical therapy and use a wheelchair if needed. A high-protein and low-cholesterol diet will be recommended once high blood cholesterol or decreased blood albumin levels appear. Genetic counseling and monitoring by a neurologist are also highly recommended.
Most patients will live out a life well beyond 50 years of age, assuming they follow their physician’s guidelines for therapy and diet.
12:06 pm • 22 February 2012 • 1 note
(pictured above are lungs of an afflicted patient. The right lung is filled with thick mucus, a characteristic of the illness)
Cystic Fibrosis is a genetic disorder that attacks the lungs, pancreas, liver, and intestines. It is characterized by thick and sticky secretions that can block passages in afflicted areas. It is most common among Caucasians, specifically those of northern European descent. About 1 in every 3,000 people are affected.
Cystic fibrosis is caused by a genetic mutation. The inheritance pattern is recessive, meaning that both carrier-parents would have to pass along the gene to their offspring. The most common mutation is a deletion of three proteins, which results in a loss of the amino acid phyenylalaine. This amino acid would normally code for a chlorine ion channel that would help to create mucus, sweat, and digestive juices. As a result, secretions become thick and sticky, which block organs.
Persistent coughing, wheezing, repeated lung and sinus infections, foul-smelling and greasy stools, poor weight gain and growth, distended abdomen (due to constipation), and intestinal blockage (prevalent in newborns).
There is no specific time from for the symptoms to arise. Some symptoms appear as early as infancy, while others could develop during adulthood. Some patients will experience lessening of symptoms with age while others might slowly worsen. Each symptom present and time of onset varies from case-to-case.
A newborn screening test will catch CF in newborns. However, if it is not caught in infancy, later tests include a sweat test (sweat produced by chemical, painlessly stimulated by electricity, then collected and tested), genetic test, sputum test (testing of mucus), or an organ function test may be issued.
There is no known cure for CF. However, antibiotics (stickiness of mucus reduction), mucus-thinning drugs, or a bronchodilator may be issued.
Most people with CF in the United States are expected to live about 37 years. In other countries, life expectancy may be much less (Canadian patients are only expected to live about 24 years).
12:06 pm • 21 February 2012 • 7 notes
Sickle-cell disease (or sickle-cell anemia) is an autosomal recessive blood disorder. The name is derived from the blood cells present in the disease (pictured above), which appear to resemble a sickle. In the United States alone, there are an estimation that 1 in ever 500 African-American babies is born with sickle-cell and 1 in every 5,000 African-Americans have sickle-cell. Patients with sickle-cell are almost immune to malaria. The disease mostly afflicts those of African descent.
Since the disease is autosomal recessive, both carrier parents must pass on the mutation to their children. An abnormal type of hemoglobin, hemoglobin S, is produced because of the mutation. The Hemoglobin S is the factor that causes blood cells to appear to have a sickle-shape. These “sickles” carry less oxygen and can interrupt normal blood flow.
Most patients do not see symptoms until about four months old. Once symptoms are present, they include abdominal pain, bone pain, breathlessness, delayed growth/puberty, fatigue, fever, paleness, rapid heart rate, ulcers, and jaundice (yellowed eyes and skin). More sever symptoms may include chest pains, excessive thirst, frequent urination, painful and/or prolonged erection, poor eyesight or blindness, stroke, or skin ulcers. Almost all patients have crises (painful episodes) which afflict the back, long bones, and chest.
There is no known cure for sickle-cell disease. Many patients are administered several tests, such as sickle-cell test or a complete blood count to test them for sickle-cell. Once diagnosed, patients may receive blood transfusions or be put on pain medications. Some patients may require a kidney transplant, gallbladder removal, hip replacement, or other surgeries.
Most patients will live to about 50 or older. The most common causes of death from sickle-cell are from organ failure or infection. Some patients also experience long-term and frequent episodes that may cause complications (such as anemia, brain damage, tissue damage, etc.)
12:09 pm • 20 February 2012 • 3 notes
Variegate Porphyria is a very rare genetic disorder in which acute skin afflictions occur. It results from the body’s underproduction of heme, which is an essential component for organs. The specific enzyme responsible for the afflictions is the protoporphyringen oxidase. There is no instance of occurrence in the United States due to how rare the disease is. However, in South Africa, 1 in 300 cases of porphyria are variegate porphyria. In Finland, 1 out of every 75,000 cases of porphyria is variegate porphyria.
Mutations in the PPOX gene cause the enzyme protoporphyrigen oxidase to become virtually inactive. Because of this low or inactivity, the production of heme is greatly reduced. The inheritance pattern is autosomal dominant (mutation is on a chromosome that is not a sex chromosome and requires only one carrier parent to pass on the mutation for it to present itself).
Many people may never display symptoms of this disorder. However, in some adult cases, acute intermittent porphyria and/or skin damage may occur. Acute attacks also include diarrhea, vomiting, and constipation. In a severe attack, patients may experience muscle weakness, anxiety, seizure, and/or hallucinations. Some patients may also be very sensitive to sunlight, which would cause their skin to develop discoloration, blistering, hair overgrowth, or scarring. Exposed skin is easily damaged and fragile.
There is no known cure, but many outbreaks have been linked to either poor diet, sun exposure, or from a drug given to the patients. Patients are asked to avoid carbohydrate restrictive diets, avoid fasting, take proper precautions in the sun, and check with their doctor for a “safe” list of drugs they are allowed to be given. In some cases, liver transplants have also been effective.
Since most attacks are acute, the disease is usually not life threatening. However, if a patient experiences severe or profound attacks and do not get proper treatment, death or serious debilitation may occur.
12:10 pm • 19 February 2012 • 2 notes
While a bruise is not an illness, it is a skin discoloration due to a blood vessel breaking just below the skin’s surface. They may feel painful and make the afflicted area difficult to use. There are three types of bruises: subcutaneous (under the skin), intramuscular (within underlying muscle), and periosteal (bone).
Bruising can be caused by a fall, sports injury, car accidents, being hit by another person, or being hit by an object. The discoloration from a bruise is due to the broken blood vessels, which leak their contents on tissue under the skin, making the bruise appear pink at first, then black-blue, then yellowish.
Pain, swelling, and skin discoloration often signify you have a bruise. The area may also be sensitive and hurt to touch.
Most physicians would recommend a bruise be elevated and iced. If the bruise is due to a sports-related injury, the bruised area may also need to be rested (not running for a few days if the patient is a runner). Acetaminophen may also be recommended.
It’s fairly safe to assume that no one has died or become critically ill from bruising. However, bruising may be a sign of a more serious problem. If a patient feels increased pressure around the bruised area, they should seek immediate medical attention. Likewise, if a patient bruises without injury, medical attention should be received.
9:52 am • 10 January 2012 • 13 notes
(pictured above is a photo of a test used to determine types of color blindness)
Color blindness is the inability to discern certain shades of a color or the inability to see certain colors. Most color blindness is attributed to a genetic factor, an x-linked mutation. As a result, most of the color blind population is male. It is estimated that about 1 in 10 men have color blindness. About 8% of the males in the world are color blind and roughly .5% of the females in the world are color blind. There are three types of color blindness: total color blindness (only seeing grey, black, and white), red-green color blindness (unable to discern red and green) and blue-yellow color blindness (unable to discern blue and yellow).
There are several causes to color blindness: genetics (majority), retinal damage, aging, or an eye injury/problems.
Genetics: inherited color blindness may remain the same throughout a patient’s lifetime or progress as time goes on. A mutation on the x-chromosome causes the patient to be missing a cone (light-perceiving transmitters to optic nerve) or one cone may not properly function, resulting in decreased color discernment.
Retinal Damage: Patients exposed to large amounts of ultraviolet light or that have suffered severe enough trauma to damage the occipital lobe of the brain may develop color blindness later in life.
Aging: As the body ages, certain cones may become less receptive to light, resulting in color blindness.
Eye Injury/Problems: Problems such as glaucoma, macular degeneration, cataracts, diabetic retinopathy may attribute to color blindness. Deficiency in Vitamin A may also contribute to color blindness.
The inability to see certain colors (green and red, for example), seeing many colors but differently than others (blue may look purple), only being able to see certain shades of a color instead of all shades (seeing pinks but not reds), and seeing in only black white & grey (very rare).
There is no known cure for genetic color blindness. However, there are two diagnostic tests performed to see what type of color blindness is present. The first is a test involving many dots of different colors (pictured above) with the patient asked to trace the shape made by the opposite color. Another test uses colored chips where the patient is asked to group each according to color similarity. If a patient is color blind, the shapes will not be correctly grouped.
Once diagnosed, if the patient has acquired color blindness (age, retinal damage, etc), surgery may be used to correct some instances (cataracts, for example). Other treatments may include colored contacts or glare-reducing glasses.
Color blind patients will live out a normal life span. However, it is recommended they do not go into an electrical field of work (wire colors present danger), painting, fashion design, or cooking (they may not be able to discern if a food item is properly cooked).
8:01 pm • 3 January 2012 • 23 notes
Photo above: Afflicted hand (left) versus normal hand (right)
Acromegaly is a metabolic illness in which abnormal production of growth hormone is produced. It is rare and can be life-threatening, depending on the severity. Acromegaly is known to cause abnormal growth of enlarged fingers, enlarged brow protrusion, enlarged feet, etc. This condition affects roughly 6 in every 100,000 adults.
There are several causes of Acromegaly. The most common is the overproduction of growth hormone resulting from a tumor in the pituitary gland. Another known cause comes from tumors located in either the pancreas, the adrenal glands, or the or lungs. A final cause stems from pituitary gigantism, which may also gigantism in certain conditions.
Symptoms of this disorder are numerous and include (but are not limited to): body odor, carpal tunnel, weakness, easy fatigue, enlarged bones in face, feet, or hands, enlarged sebaceous glands, enlarged jaw and/or tongue, excessive height, excessive sweating, headache, hoarseness, joint paint and/or limited joint movement, thickening of skin/skin tags, widely spaced teeth, and widened fingers or toes. Some females may experience excessive hair growth and some patients have been known to experience unintentional weight gain.
If left untreated: patients will experience arthritis, cardiovascular disease, carpal tunnel (if not already present), colonic polyps, glucose intolerance and/or diabetes, high blood pressure, hypopitituism, sleep apnea, spinal cord compression, uterine fibroids, vision abnormalities, and ultimately death.
Since an enlarged pituitary gland accounts for over ninety percent of cases, surgery to remove or shrink the tumor in the pituitary gland is performed. In some cases, radiation may be needed and will be given at the discretion of the patient.
In most cases, surgical removal of the tumor is successful and patients are able to recover and live a healthy life.
9:55 pm • 2 January 2012 • 33 notes
Herpes Encephalitis is a virus that causes brain inflammation. It is thought to be caused by Herpes Simplex Type 1 (HSV-1). It is rare and affects roughly 1 in 500,000 individuals per year.
HSV-1 virus may cause cold sores along the mouth, lips, eyelids, or on the eye. The virus then may travel up through the nasal passage and to the brain. An infant may be infected if the mother has genital herpes and the infant comes into contact with genital secretions during birth, but this is uncommon.
A patient thought to have Herpes Encephalitis will undergo a spinal tap.
- Early Symptoms: sore throat, fever, headache, stiff neck, and vomiting.
- Progressive Symptoms: Personality changes, hallucinations, paralysis, convulsions, seizures, coma, and death (if left untreated).
- Symptoms in Newborns: lethargy, seizures, tremors, irritability, poor feeding, and brain damage to the temporal and frontal lobes.
Herpes Encephalitis is hard to diagnose, due to it’s rarity. However, once diagnosed, an acyclovir (antiviral oral medication that relieves symptoms) therapy is started.
Over half of the patients that have Herpes Encephalitis are untreated cases, which usually result in death.
11:35 pm • 29 December 2011 • 10 notes