This mucus is supposed to be thin and watery, so it can act like a lubricant and help protect your bodies organs and passageways. This very terrible disease was discovered in 1938 by Dr. Dorothy Andersen, she referred to the disease as “Cystic Fibrosis of the Pancreas”. The name “Cystic Fibrosis” comes from the fibrous scar tissue that develops in your pancreas, which is one
Abstract: Zellweger syndrome is an autosomal and recessive disease. It is part of one a 4 disease of disorders known as peroxisomal biogenesis disorders. It is caused by absence of peroxisomes, which remove the body of toxic substances in the liver, brain, and kidneys. The most common features the zellweger syndrome patients include swell liver, high levels of copper and iron in the blood, and vision disturbances. This disorder results from the inheritance by 2 mutations genes for one of the receptors (PXR1) needed to import proteins into the peroxisome.
A multi-ethnic distribution is observed in Wilson’s disease but a higher prevalence of the H1069Q mutation has been described in central Europe. Mutations in exons 8 and 15 are also common among over 150 described mutations in ATP7B gene. This point mutation is originated from a single founder in Eastern Europe and is frequent in affected patients of Hungary. Besides this, the uncommon mutations in Hungarian patients are mutations in exons 8, 13, 15 and 18. About 50-80% of affected individuals carry at least one allele of this mutation with frequency ranging between 30-70%.
Fetal Scalp Blood Sampling- According to the American College of Obstetricians and Gynecologists11, measurements of the pH in capillary scalp blood may help to identify the fetus in distress. Procedure of fetal scalp blood sampling-25 After rupture of membranes, an illuminated endoscope is inserted through the dilated cervix and pressed firmly against the fetal scalp. The skin is wiped clean with a cotton swab and coated with a silicone gel to cause the blood to accumulate as discrete globules. An incision is then made through the skin to a depth of 2 mm with a special blade on a long handle. As a drop of blood forms on the surface, it is immediately collected into a heparinized glass capillary tube.
If your baby has a candida diaper rash, you need to take them to their pediatrician. Candida infections are treated with special creams and powders. Invasive Candida Infections Invasive candida infections are when the candida is found in your bloodstream. This type of infection is also referred to as candidemia. This type of infection typically happens in people with lowered immune systems or with people whom have left their candida infections untreated for too
Primary or essential thrombocytosis happens when abnormal cells in the bone marrow make too many platelets. Reactive thrombocytosis happens when a condition like an infection or an injury causes too many platelets to form. What are the causes? The exact cause of primary thrombocytosis is not known. Reactive thrombocytosis may be caused by: Having your spleen surgically removed (splenectomy).
One of the most common form of dystrophy is Duchenne muscle dystrophy (DMD). DMD is characterised as an X-linked inherited mutation on the DMD gene which manifests rapidly causing muscular waste within the first 3 years of a child’s life. Recent study shows DMD is associated with an incidence of 1 to 3500 boys at birth (refernce). Duchenne muscular dystrophy is said to be the most sever neuromuscular disorder which is caused by mutation mapped on dystrophin gene. Most of these mutation include either, frameshift, deletion, duplication or nonsense eventually leading to the loss of a functional protein.
In women, the risk for CHD increases after age 55. The difference in coronary heart disease between genders is significant. Among middle-aged people, CHD is 2-5 times more common in men than in women (Jousilahti, 1999). However, CHD prevalence was greater among men (7.8%) than women (4.6%) in
ABSTRACT: Toxoplasmosis is one of the most common worldwide parasitic disease caused by an obligate intracellular protozoan parasite Toxoplasma gondii. It is commonly transmitted to humans by accidental ingestion of oocysts voided in cat feces or tissue cyst in meat. Congenital transmission may occurs when an uninfected mother acquires primary infection during pregnancy . The acquired infection is usually asymptomatic, while congenital one may lead to abortion, stillbirth or severe abnormalities in the newborn. A total of 190 pregnant women were interviewed with questionnaire about known risk factors (age, residence and occupational status, raw vegetables and fruits intake, source of drinking of water, milk intake, frequency of meat intake,
Abstract The CJD (Creutzfeldt-Jakob disease) is a fatal and irredeemable neurological human disease. It is a Mad Cow Disease found in humans. It is thought to originate from the mutation of normal prion protein. This article discusses the brief history of Mad Cow disease, some places in which the Mad Cow disease has been identified, the transmission of Mad Cow to humans. It also addresses the signs, symptoms, causes and treatments of Creutzfeldt-Jakob disease and it concludes with the diagnosis, probable cause of CJD and measures which people should exercise to prevent the spread of the Mad Cow disease in humans.
During this process, the blood is tested for higher levels of immunoreactive trypsinogen or IRT. The sweat test is another test used to test the amount of salt in the sweat and see if it is higher than normal. A blood test can also check the DNA to see if the gene that can cause Cystic Fibrosis is defected. These tests are usually done on infants and they must be tested at Cystic Fibrosis specialized clinic. (Mayo Clinic Staff) Today the life expectancy for someone with cystic fibrosis is their 40’s.
What is lupus? According to Mayo Clinic staff lupus is defined as “a chronic inflammatory disease that occurs when the body’s immune system attacks your own tissues and organs. Inflammation caused by lupus can affect many different body systems including your joints, skin, kidneys, blood cells, brain, heart and lungs”(Mayo clinic.org). With lupus your body’s immune system fights off viruses, bacteria, and germs, normally the immune system produces proteins called antibodies that protect the body from these viruses. “Autoimmune means your immune system cannot tell the difference between these foreign invaders and your body’s healthy cells and tissues and creates autoantibodies that attack and destroy healthy cells and tissue.