The cause of Barth syndrome is hard to explain in layman’s terms. The genetic and molecular pathology of Barth syndrome are explained by experts as mutations in the BTHS gene, G4.5 tafazzin (TAZ). Tafazzin (TAZ) gene or TAZ mRNA is located at Xq28. It is associated with cardiolipin molecules in the electron transport chain and the mitochondrial membrane structure. Barth syndrome is found exclusively in males. (more…)
Barth syndrome is a rare genetic disorder that affects boys. According to the National Institute of Neurologic Disorders and Stroke, Barth syndrome is passed from mother to son through the “X” sex chromosome. Baby boys born affected by Barth syndrome are usually at risk of serious infections. (more…)
Sepsis is a serious illness brought about by an infection that has reached the blood stream and/or the body tissues. It is a general term that covers more specific terms like septicemia, bacteremia, viremia, fungemia, sepsis neonatorum, etc. Sepsis is described as the inflammation of the whole body secondary to a systemic immune response to a pathogen.
Ischemic Bowel Disease is a disease that interferes with blood flow to the colon is the cause of ischemic colitis. The most recurrent cause of inadequate blood flow to the colon, is blood clots. If the arteries near the colon are blocked, it can cause Ischemic colitis. In severe cases, build-up of fat in blood vessels is usually the cause of disruption of blood flow to the large intestine. The disorder mainly affects people over 50, many of whom have a history of peripheral vascular disease. Other risk factors include:
Previous aortic surgery with inadvertent damage to the artery supplying the colon
Ischemic colitis, inflammatory bowel disease or ischemic bowel disease is a very common illness experienced by people everywhere. In every part of the world, people suffer with this condition. Because the occurrence of the disease is increasing in number, more and more people are finding ways to successfully deal with it, if not actually cure it. And because some people prefer to avoid drugs, natural treatments are appearing.
Wikipedia also describes Ischemic disease as a medical condition in which inflammation and injury of the large intestine result from inadequate blood supply. Although uncommon in the general population, ischemic colitis occurs with greater frequency in the elderly, and is the most common form of bowel ischemia. Causes of the reduced blood flow can include changes in the systemic circulation (e.g. low blood pressure) or local factors such as constriction of blood vessels or a blood clot. In most cases, no specific cause can be identified.
Ischemic colitis is usually suspected on the basis of the clinical setting, physical examination, and laboratory test results; the diagnosis can be confirmed via endoscopy or by using sigmoid or endoscopic placement of a visible light spectroscopic catheter (see Diagnosis). Ischemic colitis can span a wide spectrum of severity; most patients are treated supportively and recover fully, while a minority with very severe ischemia may develop sepsis and become critically ill.
Patients with mild to moderate ischemic colitis are usually treated with IV fluids, analgesia, and bowel rest (that is, no food or water by mouth) until the symptoms resolve. Those with severe ischemia who develop complications such as sepsis, intestinal gangrene, or bowel perforation may require more aggressive interventions such as surgery and intensive care. Most patients make a full recovery; occasionally, after severe ischemia, patients may develop long-term complications such as a stricture or chronic colitis.
Since many people are wondering what Kawasaki syndrome is and how Jett Travolta acquired the disease, here is a video of a simple explanation of Kawasaki Syndrome or Kawasaki Disease.
The following are the symptoms and causes of Kawasaki Disease or Kawasaki Syndrome.
Symptoms: First phase
The first phase begins with a fever, which often is higher than 104 F (40 C), spikes and remits, and lasts one to two weeks. Your doctor may suspect Kawasaki disease if the fever lasts for five or more days, and your child has developed four or more of these signs and symptoms:
* Extremely red eyes (conjunctivitis) without thick discharge
* A rash on the main part of the body (trunk) and in the genital area
* Red, dry, cracked lips and an extremely red, swollen tongue (”raspberry” tongue)
* Swollen, red skin on the palms of the hands and the soles of the feet
* Sore throat
* Swollen lymph nodes in the neck and perhaps elsewhere
Second phase
In the second phase of the disease, your child may develop:
* Peeling of the skin on the hands and feet, especially the tips of the fingers and toes, often in large sheets
* Joint pain
* Diarrhea
* Vomiting
* Abdominal pain
Third phase
In the third phase of the disease, signs and symptoms slowly go away unless complications develop.
Causes: No one knows what causes Kawasaki disease. A number of theories link the disease to bacteria, viruses, or environmental chemicals or pollutants, but none has been proved. Kawasaki disease doesn’t appear to be hereditary.
Kawasaki disease is a condition that causes inflammation in the walls of small- and medium-sized arteries throughout the body, including the coronary arteries. It mostly affects children from ages 2 to 5. Identified by a Japanese doctor, Tomisaku Kawasaki, in 1967, Kawasaki disease is also called mucocutaneous lymph node syndrome because it also affects lymph nodes, skin and the mucous membranes inside the mouth, nose and throat.
Kawasaki disease occurs more often in boys than girls, and most commonly in children of Japanese or Korean descent, although any child can get it. It can cause serious complications of the heart and the blood vessels that supply the heart. Some of the complications of Kawasaki disease may be life-threatening.
The condition is not preventable, but it’s treatable in most cases. Most children recover from Kawasaki disease without serious problems.
According to the American Heart Association, more than 4,000 cases of the disease are diagnosed annually in the United States. It occurs more often in boys of Japanese and Korean descent, but has been identified in children of all ethnicities and races, Alenick said.
While the condition is not preventable, it is treatable with most children recovering from the disease. In fact, less than 1 percent of Kawasaki cases are fatal.
The danger of Kawasaki syndrome is that it can cause large aneurysms in the blood vessels that feed blood to the heart, said Alenick.
“Kawasaki doesn’t come in degrees of severity, but it varies in that it may cause no aneurysms, small aneurysms, moderate aneurysms or giant aneurysms,” he said. “Giant aneurysms are more common in babies. But it’s the aneurysms that form in the vessels and the arteries that feed the heart that have the potential to cause a fatal heart attack.”
The disease was first identified in Japan in 1967 by Dr. Tomisaku Kawasaki, and the cause of the illness is still unknown, Alenick said. There also is no blood test to identify the illness. Instead, patients are given a clinical diagnosis based on whether they display at least five of these six symptoms: a high fever that lasts for more than five days, red lips and tongue, swelling of the hands and feet, bloodshot eyes, rash and swollen glands.
The Spinal Muscular Atrophy or SMA is becoming a real threat to many people. If you are interested in studying this disease, please read on.
What is Spinal Muscular Atrophy?
Spinal Muscular Atrophy (SMA) Types I, II, and III belong to a group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children. The disorders are caused by an abnormal or missing gene known as the survival motor neuron gene (SMN1), which is responsible for the production of a protein essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die. The type of SMA (I, II, or III) is determined by the age of onset and the severity of symptoms. Type I (also known as Werdnig-Hoffman disease, or infantile-onset SMA) is evident at birth or within the first few months. Symptoms include floppy limbs and trunk, feeble movements of the arms and legs, swallowing difficulties, a weak sucking reflex, and impaired breathing. Type II (also known as juvenile SMA, intermediate SMA, or chronic SMA, has an onset between 6 and 18 months. Legs tend to be more impaired than arms. Children with Type II are usually able to sit without support if placed in position. Some may be able to stand or walk with help. Type III (also called Wolhlfart-Kugelberg-Welander disease, or mild SMA) can begin as early as the toddler years or as late as adolescence. Children can stand alone and walk, but may have difficulty getting up from a sitting position.
Is there any treatment?
There is no cure for SMA. Treatment consists of managing the symptoms and preventing complications.
What is the prognosis?
The prognosis is poor for babies with SMA Type I. Most die within the first two years. For children with SMA Type II, the prognosis for life expectancy or for independent standing or walking roughly correlates with how old they are when they first begin to experience symptoms – older children tend to have less severe symptoms Children with onset after 18 months are often able to walk and are fully functional for years before they need assistance. They may have a normal life expectancy.
What research is being done?
The Spinal Muscular Atrophy Project is an NINDS funded collaborative program focused on the development of drug therapies for the treatment of SMA. Experts from industry, academia, NINDS, and the U.S. Food and Drug Administration guide the program. The Project is accelerating the research process by identifying drugs already in use that increase the level of SMN protein in cultured cells, which are then used as potential leads for further drug discovery and clinical testing.
Familial forms of prion disease are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from one affected parent. In some people, familial forms of prion disease are caused by a new mutation in the PRNP gene. Although such people most likely do not have an affected parent, they can pass the genetic change to their children.
The sporadic, iatrogenic, and acquired forms of prion disease, including kuru and variant Creutzfeldt-Jakob disease, are not inherited.
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