Benign familial infantile epilepsy (BFIE) has been recognized for some time as infantile seizures, without fever, that run in families but the cause has thus far eluded researchers. However clinical researchers at the University of Melbourne and Florey Neurosciences Institute and molecular geneticists at the University of South Australia have discovered a gene.
There are no any disease that are associated with Epilepsy. Seizures is a disorder that is caused by overexcited nerve cells that is found in the brain that may cause abnormally. Researcher are of the view that in many instances the cause of the Seizure isn’t known. Some causes of Seizure include Head injury, Dementia, meningitis, Genes, Injury to the brain before birth, stroke, Tumors, Infections, Toxic causes, heart atteck, and some other medical condition.
And It Gets Even Better…
Seizure is classified in two parts that is Partial seizures and Generalized seizures. Partial seizures may include the portion of brain and it further divided into Simple partial seizures, its symptoms may include involuntary twitching of muscles, vision problem, experiencing unusual taste and smell. Complex partial seizures is also catageized under Partial seizures, its symptoms are same as of the Simple partial seizures. Another category of seizure is Generalized seizures, it involve much more some of the brain. They can be Absence seizures, Myoclonic seizures and Tonic-clonic seizures.
BFIE is a disorder which place turkey in previously healthy infants who’re developing normally. Seizures commence when a baby is about six months old and stop by the minimum age of two years. BFIE is a rare form of epilepsy with the Australian researchers having studied about 40 families from all over the world. Some of the children with this gene abnormality develop an unusual movement disorder later in childhood or adolescence called Paroxysmal Kinesigenic Choreoathetosis (PKC).
Benign familial infantile epilepsy (BFIE) is a self-limited seizure disorder of infancy with autosomal dominant inheritance. We have identified heterozygous mutations in PRRT2. This encodes Proline Rich Transmembrane protein 2, in fourteen of seventeen families (82%) with BFIE, indicating that PRRT2 mutations are the most common cause of this disorder. We also report PRRT2 mutations in five of six (83%) families with Infantile Convulsions and Choreoathetosis (ICCA) syndrome, a familial syndrome in which infantile seizures and an adolescent onset movement disorder, paroxysmal kinesigenic choreoathetosis (PKC), co-occur. These findings show that mutations in PRRT2 causes both epilepsy and a movement disorder. Furthermore, PRRT2 mutations elicit pleiotropy both in terms of age of expression (infantile versus later childhood) and in anatomical substrate (cortex versus basal ganglia).
In an advance in determining the function of environmental agents in causing cancer, scientists today described development of a long-sought way to use biopsy samples from cancer patients to check on human exposure to substances that damage the genetic material DNA in ways that can cause cancer.
Diabetes is a general disease characterized with chronic high blood sugar. Diabetes can damage the kidneys in many different ways. These can damage all the structures of the kidneys. And Diabetic Nephropathy is a complication of general capillaries of Diabetes. Once diabetics have continuous proteinura, the disease is irreversible and will develop into end-stage Kidney Failure. Diabetic Nephropathy has become the main cause for death.
Diet is an important role for the patients to avoid the complications, and relieve the disease condition. At the same time, a proper treatment is likewise crucial. Experts in Shijiazhuang Kidney Disease Hospital recommend that Diabetic Nephropathy patients should choose treatments that can treat the disease from the disease root, that is repair the kidney damage, so as to improve the kidney function fundamentally. At present, there are three ways to treat Diabetic Nephropathy. First, traditional western medicine treatment. Second, combination of Chinese medicine and western medicine, with Micro-Chinese Medicine Osmotherapy to gradually recover the kidney function. Third, in our hospital, Shijiazhuang Kidney Disease Hospital, we primarily focus on repairing the damaged intrinsic cells, recover their original structure and function, with the combination of Micro-Chinese Medicine Osmotheray and Stem Cell Transplant.
Balkan Endemic Nephropathy Overload?
Their report on the method, which taps into a treasure trove of health information in biopsy samples of patients, was a member of the 246th National Meeting of the American Chemical Society (ACS).
Turesky and Yun now are checking FFPE samples for DNA adducts associated with cigarette smoking, cooked meats and air pollution.
Heading Down The Balkan Endemic Nephropathy Rabbit Hole
DNA adducts are a measurement of internal exposure to environmental and endogenous genotoxicants and are useful for risk assessment. Unfortunately, in molecular epidemiologic studies, the measure of DNA adducts is frequently precluded by the unavailability of fresh tissue. In contrast, formalin-fixed paraffin embedded (FFPE) tissues are often accessible and represent a rich and largely untapped source for DNA adduct biomarker research. FFPE tissue hasn’t been employed for quantitative measurement of DNA adducts because of the technical challenges in retrieval of high quality DNA that is fully digestible by nucleases. We report here that DNA adducts of aristolochic acids (AAs) can be measured in FFPE tissues at a degree of sensitivity comparable to freshly frozen tissue. AAs are nephrotoxic and carcinogenic compounds found in Aristolochia plant species, many of whom have been used worldwide for medicinal remedies. AAs are involved in the etiology of aristolochic acid nephropathy (AAN) and Balkan endemic nephropathy (BEN). 8-Methoxy-6-nitro-phenanthro-[3, 4-d]-1, 3-dioxolo-5-carboxylic acid (AA-I) is an important component of Aristolochia herbs and a potent human urothelial carcinogen. We established a method to quantitatively retrieve the aristolactam-DNA adduct 7-(deoxyadenosin-N6>-yl) aristolactam I (dA-AL-I) from FFPE tissue. Adducts were measured, using ultra performance liquid chromatography/multistage scan mass spectrometry (UPLC-MS/MS>n >), in liver and kidney tissues of mice exposed to AA-I, at doses ranging from 0.001 to 1 mg/kg body weight. DA-AL-I was then measured in 10 µm thick tissue-sections of FFPE kidney from patients with upper urinary tract cancers. DA-AL-I adduct levels in FFPE were similar to those levels measured in fresh frozen samples. The limit of quantification of dA-AL-I was 3 adducts per 109 DNA bases per 3 µg of DNA. The ability to retrospectively analyze FFPE tissues for DNA adducts may provide clues to the source of human cancers for which an environmental cause is suspected.
The minute we heard the word plague, we think of infected rodents scurrying all over the city ready to bite people and spread the infection around! This is slightly on the dramatic side, however, the fact remains that plague is a deadly disease transmitted from rodents like rats, prairie dogs, squirrels, etc. to humans via fleas. Fleas carrying infection from rodents and bite into the human, thereby transferring the disease to the human. The World Health Organization (WHO) states that over 1, 000 to 3, 000 cases of plague are reported every year. There are different kinds of plagues that can affect humans and animals such as pneumonic plague, septicemic plague and bubonic plague.
Septicemic plague is a rare but grave bacterial infection caused by a negative gram bacterium called Yersinia pestis. When this bacterium enters the bloodstream via an open wound in the body, the person is known to be infected by plague. The bacterium multiplies in the blood and results in septicemic plague. This form of plague like the other types is capable of causing disseminated intravascular coagulation. This is a blood clotting mechanism leading to formation of small clots in the blood vessels of the body.
Heading Down The Bubonic Plague Rabbit Hole
The bacterial endotoxins released in the blood cause blood clotting. These in turn conduces to abnormal bleeding in the skin and also disruption of normal blood flow to various vital organs. This condition can be fatal. Moreover, bleeding into the skin results in eruption of red or black patchy rashes on the skin. It likewise leads to vomiting and coughing of blood. This plague rarely spreads from person to person, however, it may be transmissible if the condition reaches the pneumonic stage. This form of plague can also be a complication developed after the person has been affected by bubonic or pneumonic plague.
Pneumonic plague, on the hand is a much more dangerous. It is considered to become one of the deadliest diseases, and is feared as a potential bioterrorist weapon. Pneumonic plague can occur as a secondary infection from bubonic plague, but can also be spread through the air, from person to person, or from infected objects, just the way cold germs can. Victims of pneumonic plague will die in a matter of a few days without prompt medical attention. Victims of pneumonic plague have only about a fifty percent chance of survival, even with medical attention. Pneumonic plague is referred to as the red death in view of the bleeding which is caused, as the lungs fill with bacteria and the victim struggles for breath, spitting up, not only watery phlegm, but also clots of blood.
The pneumonic plague bacteria thrive in the warm moist tissue of the lungs. When they’re expelled into the air, they’ll infect anyone close by, who’ll in turn expel bacteria, and therefore the disease spreads.
The progression of this infection in the body is rapid. The time period between start of the first symptom and severe cases of plague is very short. In some cases, people have died under the same day the first symptoms began appearing.
To diagnose a case of septicemic plague, the doctor will go through the regular procedure of asking the medical history and perform a physical examination. The doctor will thoroughly check the patient’s skin and will listen carefully to the lungs. This is done to check for signs of plague. However, the doctor poses the difficulty of ruling out other medical conditions with similar symptoms such as lymphogranuloma venereum, shigellosis, hernia, cat scratch fever, typhoid fever, appendicitis, or syphilis. Once these conditions are ruled out, the diagnosis about being infected with plague will be made.
Since the septicemic plague is fatal, treatment has to be carried out as soon as possible. As soon as the diagnosis is made, the patient is hospitalized and quarantined. The doctor doesn’t wait till the laboratory tests to begin treatment. He starts treating the patient with antibiotics and also gives supportive care. This involves treating the symptoms arising and preventing the condition from worsening. Immediate treatment reduces the death rate from 4-15%. However, people suffering from septicemic plague often lose their lives under the same day the symptoms first emerge.
Septicemic plague is a condition if left untreated can cause irreversible damage and even death in a days time. It can also occur as a complication of bubonic plague, so quick treatment is a must to save the lives of the person infected with this deadly disease.
Obtained brain injuries are really serious and have lasting medical effects on the person who has this kind of brain injury. The brain controls our entire body and is necessary for speech, movement, and other functions of the body so this type of injury can impact speech, motor functions, and even social functions.
Exactly what is an obtained brain injury? It is a brain injury that takes place after birth and triggers comprehensive damage to the brain.
Random Mind Blab About Traumatic Brain Injury
How does one get this type of injury? Falls, mishaps, car accidents, and physical abuse can trigger a traumatic brain injury. Many people with traumatic brain injuries have actually had some type of impact to the head which resulted in their injury.
How serious are brain injuries? Brain injuries can be very serious and occasionally people do not even understand how serious it is till they begin to experience the negative side effects. Some of these side effects consist of: headaches, fatigue, epilepsy, incontinence, loss of sensation, loss of speech, and loss of motor functions.
Do you know what you would have to do if somebody near you had an accident that left them seriously crippled as an outcome of a brain injury? Unfortunately, unless you are presently experiencing such a traumatic scenario, it is most unlikely that you would have ever provided serious thought to the effects of a serious brain injury in a liked one.
Brain injuries are most often the outcome of automobile accidents, physical violence or accidental falls. A single person in the United States sustains a brain injury roughly every 21 seconds.
How is this type of head injury dealt with? Depending upon the extent of the traumatic head injury, the person will certainly require some sort of medical care. Generally, the person will certainly need help from nurses, physicians, speech therapists, physiotherapists, physical therapists, social employees, and medical psychologists.
After any injury to the head or the surrounding area or other traumatic injury or fall, a person must be checked out by medical workers. Any scenario where a person’s body is bumped approximately or otherwise hurt can result in a brain injury. The brain can quickly bump against the head and swelling can start. It is much better to be safe with any kind of head injury and seek medical treatment as quickly as possible. The physician will just observe the client for a short period of time to see if symptoms of a head injury present.
A brain injury needs to always be taken seriously. The brain is a complicated organ that can quickly be hurt. It is very important to constantly seek medical care if a brain injury is suspected so that therapy can happen and more troubles can be avoided.
Exactly what are other kinds of traumatic brain injury? Other kinds consist of the following: stroke, growths, hemorrhages, hypoxia, sleeping sickness, and hematoma.
Exactly what are the legal effects? If the person was injured by another person and that triggered their injury then they can take legal action against that person. People with traumatic brain injuries need to receive a lot of health care that can be extremely costly. If you are an adult and suffered this type of injury then you may not have the ability to work and be disabled so you would need to be made up for your loss of salaries and damages.
What necessary documents will a lawyer have to represent you? Your lawyer will certainly need to assess your case by examining the occurrences that happened previously and after the brain injury occurred. The lawyer will certainly examine your medical records; read any necessary authorities, reports, and see what your prognosis is and evaluate how much compensation you will have to sue for. Due to the fact that they will represent your interests, it is vital that you pick the right lawyer. The lawyer has to do the proper research on head injuries and traumatic brain injuries so that they can provide a well rounded case to the judge.
Exactly what is the claims process like? The claims procedure includes the following steps: show the reason for your injury and who is to blame, have a complete medical exam, and examine your diagnosis to identify correct compensation. These steps have to be taken before you can submit your claim and go before a judge in a law court.
Despite the truth that vehicle mishap is in itself a terrible thing to go through, the legal paperwork for submitting a compensation claim and following it during the whole procedure can make it feel even worse. Right here is some details that can help direct you during the process if ever you have to file a car mishap compensation claim.
How do traumatic brain injuries influence families? Depending on the extent of the injury, families can be really influenced by their loved one’s brain injury. Some people with traumatic brain injuries end up being comatose or can not even take or speak care of themselves. This leaves their care to either a long term facility or other family members. If the person has a family and kids to take care of, this can be an extremely challenging scenario to deal with especially. Because of a head injury, families grieve in different ways after they enjoyed one has changed. It can be overwhelming and it does take a while for people to obtain utilized to their brand-new family situation.
Exactly what kinds of support are out there for people and families affected by traumatic brain injuries? There are website for victims such as Aphasia Now, Brain Injury Association of America, and Brain and Spine Foundation. These resources can be really beneficial to traumatic brain patients and their families. If you or a family member has suffered a traumatic brain injury then kindly speak to a lawyer who concentrates on this area of law so that you can get the compensation that you deserve.