X-ALD being a type of Leukodystrophy, it results in demyelination of cells. The accumulation of VLCSFAs in the nerve cells indicates the presence of the disease resulting in demyelination of the central nervous system and adrenal; insufficiencies. The symptoms include deterioration of the nerve and the loss of verbal communication, strength and coordination. This may lead to neurological disability or death. The movie portrays Lorenzo developing symptoms of X-ALD at the age of five years. After being told there is no hope for Lorenzo to recover, his parents, Augusto Odone and Michaela Odone, are unwavering to find a cure. They developed the treatment known as Lorenzo’s oil (combination of oleic and erucic acid) of which it was still considered as a miracle oil of hope. In a couple years’ time of researching about the oil, Lorenzo’s oil was found not to be a cure for X-ALD but a treatment to prevent the…
Diagnosis should be based on a detailed revision of the patient's medical history, a laboratory tests and physical examination are also important for diagnosis. X rays of the adrenal or pituitary glands can be useful to determine the location of the tumor. (1)…
According to American Journal of Neuroradiology (2002), leukodystrophy is a progressive disease of myelin sheath in which a genetically determined metabolic defect results in confluent destruction, or failed development, of central white matter. Most leukodystrophies are autosomal recessive or X-linked recessive with onset in early childhood. Dominantly inherited leukodystrophies with onset in adulthood are rare (http://www.ajnr.org/content/27/4/904.full#xref-ref-1-1).…
If available lab results, I would like to see the resulted complete blood count with differential and…
Assignment: For each scenario that follows, explain how and why you would schedule an appointment or suggest a referral based on the patient’s reported symptoms. Be sure to first review the “Guidelines for Patient-Screening Exercises” found on page iii in the Introduction section of your Workbook.…
* HDL: 32 mg/dL- Decreased levels of HDL indicates metabolic syndrome and increased risk of diabetes mellitus…
Alexander Disease is one of a group of neurological conditions called Leukodystrophies. These are disorders that cause abnormalities and the destruction of myelin, the “white matter” that protects nerve fibers in the brain. Myelin is essentially made up of water proteins and mostly lipids, it covers the axons of all neurons in the form of a myelin sheath as it helps insulate the nerve fibers and promotes rapid transmission of nerve impulses. Myelin is produced by two different types of Glial cells, Oligodendrocytes produce myelin in the central nervous system (Brain and Spine) and Schwann cells produce myelin in the peripheral nervous system (Outside Brain and Spine). If myelin is not properly maintained, the transmission of nerve impulses could be disrupted and as myelin deteriorates nervous system functions can be impaired. Alexander disease targets the CNS.…
Recently, there is a strenuous effort to reach a consensus on diagnostic criteria for PMS and to recognize core symptoms of the syndrome O’Brien et al., 2011. These symptoms include psychological, physical, cognitive, and behavioral changes. Physical symptoms include hedach, bloating, diarrhea, fatigue, back ache, pelvic congestion, mastalgia, and gastrointestinal disturbances. Psychological symptoms include irritability, mood swings, nervousness, and depression. Poor concentration and feeling out of control are the primary cognitive changes. Finally, the behavioral changes include social withdrawal, aggressive behaviors, disturbed relationships and increased arguing. Biggs and Demuth, 2011 & Rapkin and Mikacich,…
The Cushing’s disease was first describe by a neurosurgeon named Harvey Cushing in the year 1912 (JB Lippincott, (1992)). The disease also known as Tertiary or Secondary Hypercortisolism (Minnie G: Lanzino, Giuseppe: Maartens, Niki F.; Laws, Edward R. (2002)) is a condition in which the steroid hormone Cortisol is produced excessively. The excessive production of cortisol occurs when there is a benign (non-cancerous) tumor is formed at the anterior of the pituitary gland. This leads to the secretion of Adrenocorticotrophic Hormone (ACTH). ACTH is normally produced by the pituitary gland, and causes the stimulation of the adrenal glands resulting in the production of cortisol also known as the stress hormone (http://pituitary.ucla.edu/cushings-disease).…
McChance, K.L. and Huether, S.E. (2006) Pathophysiology: the biologic basis for disease in adults and children 5th edn. St. Louis: Elsevier Mosby.…
CHADD. (2003, August). CHADD and CDC Open National Resource Center on AD/HD. Attention, (AUG 2003, 12-13). Retrieved from http://attention@chadd.org/209.126.179.230/…
In this assignment I will be looking at the nature of two named physiological disorders. I will explain its sign and symptoms and access possible difficulties involved in the diagnosis of the disorders from their signs and symptoms. The two physiological disorders are coronary heart disease and breast cancer.…
Canavan’s disease is one of the most common and fatal progressive cerebellar degenerative disorder affecting the white matter of the brain which is caused due to the enzyme aspartoacylase. 1 Aspartoacylase (ASPA gene) promotes the deacetylation of N-acetylaspartic acid (NAA) to produce acetate and L-aspartate which is the only brain enzyme that has been shown to effectively metabolize NAA. 2 NAA metabolism plays a major role in the formation of myelin lipids. Oligodendrocytes present in the brain are enriched with ASPA and its deficiency results in increased levels of its substrate (NAA) causing brain edema and dysmyelination. 3 The ASPA deficiency leads to accumulation of NAA in brain and it is excreted in urine of patients. 4 Mutations in the ASPA gene hinder the activity of aspartoacylase. It prevents the normal breakdown of NAA. Increasing quantity of NAA also leads to…
In this assignment I am going to describe two physiological disorder in details, the details that I am going to go into is what the disorder is, signs and symptoms, cause of the disorder, physiological changes as a result of treatment and the factors influencing the development of the disorder, explain the signs and symptoms related to two named physiological disorders, describe the investigations that care carried out to enable the diagnosis of these physiological disorders and assess possible difficulties involved in the diagnosis of the disorders from their signs and symptoms.…
The result of a sodium/potassium electrolyte ratio of less than 25:1 along with increased levels of BUN, calcium and creatinine and a decrease in blood glucose and albumin concentrations may lead to a diagnosis of Addison’s disease. However, since electrolyte levels may not affect Addison’s disease an ACTH stimulation test provides a definitive diagnosis by testing the dog’s adrenal glands to produce cortisol. In this test, initially a blood sample is taken and the cortisol level is measured. The dog is then injected with synthetic ACTH (Cortrosyn®) to stimulate the adrenal glands to produce cortisol. In one hour a blood sample is taken and the cortisol level is measured. Addison’s disease is diagnosed if the dog has no or low response to this…