Batten disease or Neuronal Ceroid Lipofuscinoses (NCL) is nervous system disorder that is inherited. There is a few different age categories related to such disease but it usually manifests itself in childhood. Although Batten disease is the juvenile form of NCL, most doctors use the same term to describe all forms of NCL. Batten disease or NCL may be recognized by parents or doctors that notice a child begin to develop vision problems or seizures. In some cases the early signs are subtle, taking the form of personality and behavior changes, delayed speech, slow learning, clumsiness or stumbling.
Over some period of time, affected children (patients) experience mental impairment, worsening seizures, and progressive loss of sight and motor
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Although the age of death is variable among affected individuals, this form of NCL does shorten life expectancy.
For the purpose of this project, we are just concerned about type 3 Neuronal Ceroid Lipofuscinoses also known as batten disease. The first symptoms of this type of disease include[2] an impairment of vision, which progresses rapidly and eventually results in total blindness. Children with such disease experience the loss previous acquired skills eg. ability to speak in complete sentences. Also children tend to have difficulty with learning new information such as reading, listening, which shows an intellectual decline.
Furthermore affected children might lose motor skills such as the ability to walk or sit as disease progresses. They also develop movement abnormalities that include rigidity or stiffness, slow or diminished movements, and stooped posture. Affected children may have recurrent seizures (epilepsy), heart problems, behavioral problems, difficulty sleeping, and problems with attention that begin in mid - to late childhood.
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The groups investigate a trial of several patients who experience batten disease, in hope to slow the progress of the disease. The main experimenting treatments envolve gene transfer vector done by WMCCU since November 2013 and mycophenolate mofetil administration given by University of Rochester since March 2014. While there is still no specific treatment available to cure Batten disease, recent studies have showed that disease was manipulated by several drugs to slow down the progress. While specific drug is yet to be discovered, a patient suffering from Batten's disease will likely die. The time period between first noticing the disorder and death varry between different types of the
[1, 4, 5, 9, 13] There have been no documented cases where a human has contracted the disease from another human. [4] It appears, based on field and lab data, that infection requires direct contact with the virus through means such as contact with infective bodily secretions, urine, or tissues. [12] It is unknown to scientists how the virus can be maintained in the bat populations and avoids extinction as the host species becomes immune to its presence. [14] The incubation period from time of infection to the onset of symptoms is about 5-14 days in experimentally induced animals [4] and 8-14 days in natural field cases.
that caused seizures, hemiparesis, and dementia normally in the first ten years of life. The seizures that
Tuberculosis or TB is an airborn infection caused by inhaled droplets that contain mycobacterium tuberculosis. When infected, the body will initiate a cell-mediated hypersensitivity response which leads to formation of lesion or cavity and positive reaction to tuberculin skin test (Kaufman, 2011). People who have been infected with mycobacteria will have a positive skin test, but only ones who have active TB will show signs and symtoms. Basic signs and symptoms include low grade fever, cough with hemoptysis, and tachypnea. They may also show pleuristic chest pain, dyspnea, progressive weight loss, fatigue and malaise (Porth, 2011).
PD is separated into stages according to the symptoms and degree of disability Stage 1 is mild disease with unilateral limb involvement. Whereas the patient with stage 5 disease is completely dependent in all ADLs. Other classification refer simply to mild, moderate, and ...
...ally during this stage patients will lose their ability to control movement completely, but still may say words and certain phrases. He/she will need assistance with most of their daily living and require personal care round the clock. Also, they lose the ability to smile or sit without support.
can be prevented by a vaccine. In 20 - 30% of the cases the infection spreads
My hypothesis on Tuberculosis is that it is a very deadly disease that causes a persons lungs to fill with blood. This can harm the body by making the body suffocate itself when the lungs fill with blood.
...n a coma, being in a vegetative state, and the worst, death. One in every four babies shaken dies. The rest have to deal with the injuries and symptoms that will affect the rest of their innocent lives.
Bratton, R. L., Whiteside, J. W., Hovan, M. J., Engle, R. L., Edwards, F. D. (2008). Diagnosis
Tuberculosis or known as TB remains a leading cause of morbidity and mortality in the world, especially in developing countries. A combination of factors including high costs, limited resources and the poor performance of various diagnostic tests make the diagnosis of TB difficult in developing countries. According to Centers for Disease Control and Prevention (2014), one third of the world’s population is infected with tuberculosis. In 2012, nearly nine million people around the world become sick with tuberculosis disease, and there were around one point three million TB related deaths worldwide.
the brain, a brain tumour or if the child goes through radio therapy around the
Tuberculosis is an air-borne disease, hence, it can be passed from an infected person to a healthy individual through coughing, sneezing and other salivary secretions. Tuberculosis is caused by the transfer of Mycobacteriun Tuberculosis (M. Tuberculosis) also known as Tubercle Bacillus, a small particle of 1-5 microns in diameter, due to the small size, when an infected person sneezes or coughs, about 3,000 particles are expelled. M. Tuberculosis responsible for tuberculosis is able to stay in the air for a long period of time (about 6hoursAnother way of acquiring Tuberculosis is by drinking unpasteurized milk, milk straight from cow, although this is not a common mode of transmission, it can be found in rural areas. Ingestion of contaminated cow milk transmits Mycobacterium Bovis, the animal form which is still potent enough to cause tuberculosis in humans. ). Tuberculosis transmission is affected by exposure, socioeconomic status of person, proximity, immune status of uninfected individual (%&&%&? CDC).
In Jan Tecklin’s book, Pediatric Physical Therapy, he states that “spina bifida is the second most common birth defect after Down syndrome” (163). Spina bifida includes any birth defect where the spinal canal is not completely closed. It is considered to be a neural tube defect or an NTD. The
CML is due to a change in chromosome 22 (the Philadelphia chromosome, named from its place of discovery) of the DNA in immature bone marrow cells. It was discovered that there is a translocation, or movement of a part of DNA of the distal part, or long arms of chromosome 22 onto chromosome 9. The gene that is formed from the translocation is called the BCR-ABL gene from the c-ABL gene on chromosome 9 and the BCR gene on chromosome 22. The BCR-ABL gene results in the production of a mutated protein which c...
Tuberculosis is an infection caused by Mycobacterium Tuberculosis, an acid-fast Gram-positive bacillus, and “is characterized by progressive necrosis of the lung tissue” (Tamaro & Lewis, 2005). Tuberculosis is caused by many debilitating conditions like immunosuppression and chronic lung disease, among others. Nevertheless, human immunodeficiency virus (HIV), the virus that causes acquired immune deficiency syndrome (AIDS), remains the leading cause of tuberculosis worldwide. Tuberculosis can present in one of two types: active tuberculosis and latent tuberculosis. Prompt treatment prevents latent tuberculosis from evolving into active tuberculosis. (“Basic TB Facts,” 2012).