The Genetic Disease And Disorders

Cootie believed that Henrietta’s cancer was brought to her by a voodoo. In addition, he believed that the doctors at Hopkins had a large role in her death. Also, Cootie is from a very small town called Clover. Basically, Cootie is fairly uneducated and wouldn’t understand much of the

Fibromyalgia (FM) is a “musculoskeletal disorder” with extreme sensitization of central nervous system (connecting brain and spinal cord) which sends amplified pain signals to the body. People with Fibromyalgia have over sensitized central nervous system affecting all the senses of the body. Harsh light, loud sounds, eating spicy foods, inhaling heavy perfumes or vapors, or even a light touch of hand can be extremely painful. The pain is at its highest or severe upon waking in morning and gradually reduces as the day progresses.

The authors also make the important observation that pain has the ability to suppress itch which is shown when the mechanical pain of a scratch masks an itch, but never see an itchy sensation relive pain (Sun). This led the authors to believe that pain and itch have common neuronal paths but somehow our CNS is able to distinguish these sensations. Their new selectivity theory claims that itch stimuli are itch neuron specific while painful stimuli activates a wide range of neurons that ultimately inhibits the itch sensation while producing the pain

CS has two main characteristics. Both involve a heightened sensitivity to pain and the sensation of touch. They are called ‘allodynia’ and ‘hyperalgesia.’ Allodynia occurs when a person experiences pain with things that are normally not painful. For example, chronic pain patients often experience pain even with things as simple as touch or massage. In such

The cause of this condition is still to be determined. There are indicators that it is a type of immune condition, which is linked to inducing the immune system to antigens that are shared between the infecting organism and peripheral nerves. Therefore, it is known that is not linked to genetic nor is contagious

An extensive matrix of neurons in the brain gives us the sense of our own bodies and body parts. Pain results when this matrix produces an abnormal pattern of activity, as a result of memories, emotions, expectations or signals from various brain centres and not just from signals from peripheral nerves. Because of the lack of sensory stimulation or a person’s efforts to move a nonexistent limb, abnormal patterns may arise, resulting in phantom pain.

Trigeminal Neuralgia (TGN), also known as Tic Douloureux, is a transient, yet chronic, recurrent and intense pain in the area of the face covered by the three branches of the Trigeminal Nerve (CN V). Though the pain can reside around the nose and eyes, it is typically situated in the lower face and jaw, and is generally restricted to one side of the face. Dubbed the Suicide Disease because of the significant number of sufferers who resorted to taking their lives because of the unbearable pain, TGN is considered by many as the most painful physical ailment known to man. The enervating and intolerable pain is characterized as sporadic, intense, stabbing and electric shock-like. Though the ailment was first recognized by

The title Reflex Sympathetic Disease was originally used to describe pain disorders, under the belief that sympathetic hyper activity was somehow involved in abnormal activity at the periphery.5 However, there still remained a large number of patients who were difficult to categorize into one or the other pain syndromes (RSD/ causalgia/Sympathetically Maintained pain (SMP)).5 Therefore the term complex regional pain syndrome (CPRS) came about.5 CPRS type I corresponds with the former term RSD, CPRS type II corresponds with the former term causalgia, and CPRS type III corresponds with patients who might not fulfill the criteria for CRPS I or II which puts them in this third category of “not otherwise

Genetic disorder is a disease that caused by an abnormality in an individual’s DNA. Genetically inherited disorders has only been discovered within the past 150 years. The Incidence of new disorders in our society has led to change into societal attitudes to disease. Some disorders that affect multiple family members are caused by gene mutations (one or more genes) which can be inherited. There also other conditions that appear to run in families that are not caused by mutations. Which instead, environmental factors such as dietary habits or a combination of genetic and environmental factors that are responsible. Passing on mutations are known as monogenic conditions. Monogenic conditions can be inherited in three main ways; autosomal recessive

Post-OLT GVHD poses a diagnostic challenge and may be under-diagnosed due to the lack of specific clinical or histopathologic features. Early diagnosis of GVHD is important to decrease the severity of infections as well as mortality rate. The diagnosis may be delayed, because similar presentations can be seen with drug reactions and bacterial or viral infections. Diagnosis is made on the basis of clinical and histological evidence and the presence of chimerism. Post-OLT GVHD can be classified into four stages based on the clinical sign and symptoms. (Table-2) Serologic and molecular techniques have been used to diagnose post-transplant GVHD. Due to the nonspecific features of rash and other clinical symptoms, chimerism is an important investigation to confirm OLT related GVHD, in the presence

Congenital Insensitivity to Pain is a very amazing disease. I chose to report on the specific section of it dealing with Anhidrosis because this also leaves the infected individual with the inability to sweat. This causes problems such as fevers and overheating from over exertion or external heat which in turn can cause brain damage. Many people affected by this disease die before the age of twenty-five from infections left untreated, metal retardation, overheating, and freezing. This leaves the field of exploration in finding a cure very narrow because people treated die too early to show direct connections to any of their treatment.

Congenital Insensitivity to Pain Other known as CIP has an unexplained reason as to why it happens to some but not others. Some symptoms of are recurring fevers, ability to sweat, No reaction to painful scenarios,and self mental retardation. The genetic basis for CIP is unknown as of right now. It is apart of the family disorder called HSAN which stand for hereditary sensory and autonomic neuropathy. Most people that have a disorder involving HSAN have some form of lose between pain and temperature. Most of the time when you can't feel the pain and it is linked to CIP you have some form of nerve damage if you have felt it before or if you haven't felt it before have some form of brain damage affecting the train of thought to the

The definition of a genetic disease given by medicalnet.com is “any disease that is caused by an abnormality in an individual’s genome”(Mednet, 2014). Usually, the abnormality can be caused by a small mutation in the DNA gene or an “entire set of chromosomes”. There are four different types of inheritance for genetic disease, which are: Single Gene Inheritance, Multifactorial inheritance, Chromosomal Abnormalities, and Mitochondrial Inheritance. Some examples of the single gene inheritance would include cystic fibrosis, sickle cell anemia, and Huntington’s disease all of which mutations have occurred in a single gene in the DNA. “Cystic Fibrosis affects cells that produce mucus and digestive juices which in result turns these cells into thick cells which clog up air pathways in the lungs and pancreas” (MayoClinic, 2012). Currently, there is no cure for CF but there are treatments given to patients that improve their health. “Most patients with CF carry the F508del CFTR mutation, which causes defective CFTR protein folding and processing in the endoplasmic reticulum, resulting in minimal amounts of CFTR at the cell surface” (Pubmed, 2011). One way to treat the F508 mutation is to fix it with small molecules such as using VX-809, which is the corrector to treat cystic fibrosis. “In cultured human bronchial epithelial cells isolated from patients with CF homozygous for F508del, VX-809 improved F508del-CFTR processing in the

I remember when I was a little girl that I would go to the doctor a lot. I had quite a few medical issues and recall being sick or not feeling well quite often. My parents would get worried because they didn’t quite know what was wrong or how to deal with what I was going through. They could tell that something wasn’t right, but they hadn’t encountered a situation like this before so we went to many different doctors in an attempt to figure out what I had. Finally, after many doctors and many tests, they told my parents that I had Wilson’s disease. Being that I was only eight years old at the time, I didn’t know what this meant but my mom suddenly remembered that there was an instance of this disease in the family, with her grandmother struggling from it her whole life. Through the years, I have learned a lot about the condition that I am dealing with. Now, at 34 years old, I have a better understand of exactly what it is. According to research, it is classified as a single gene defect that occurs as a result of a mutated protein. What happens specifically is that there is an abundance of copper, which spreads to different parts of the body such as the liver and the brain. As we know, the liver and the brain are two incredibly important organs in our body, which play a crucial role in how we operate. Therefore the copper has a significant detrimental impact on my overall health and well being.

Thoracic sympathicotomy is the therapy of choice for craniofacial or upper limb hyperhidrosis not responding to medical treatment. It may also be indicated to treat vasomotor disease such as Raynaud’s disease or peripheral arterial obstructive conditions of the upper limbs.(13) Further, thoracic