Niemann: Pick's Disease Essay

Encephalomalacia is a condition that’s characterized by the softening of brain tissue due to inflammation or hemorrhage. Encephalomalacia is regarded as one of the most serious types of brain condition that can bring irreversible damage and affect the normal function of the body as a whole. In some cases, the brain is known to deteriorate and this often leads to extensive softening of the substances within. This softening can be in one specific area or spread to other areas. Tissue and organ damage is possible and may easily occur during this condition within the occipital lobe, frontal lobe, temporal lobe and parietal lobe. Effects within this specific part of the brain cause immediate stoppage of functions and is known as cerebral softening.

Genetic testing is used to determine the risk of a patient or patient’s offspring developing genetic diseases. This is done with DNA sequencing in adults and preimplantation genetic diagnosis (PDG) on embryos. These methods of genetic testing are effective means of determining the likelihood of developing diseases such as Huntington’s disease, a disease resulting from trinucleotide repeat on chromosome 4p16.3 that causes uncontrollable muscle movement and decrease in cognitive function. However, they only determine probability, which isn’t an entirely reliable means of knowing whether or not symptoms will arise.

Gorham’s disease is an extremely rare musculoskeletal disease of unknown origin that is characterized by the uncontrolled production of distended, thin-walled vascular or lymphatic channels within bone, which leads to resorption and replacement of bone with angiomas and/or fibrosis and the destruction of bone (Lymphangiomatosis and Gorham’s Disease Alliance [LGD Alliance] 2016). This disease usually occurs in children or younger adults that are forty years or younger. Diagnosis and treatment is usually delayed due to the rarity of this disease and due to the fact that many physicians do not have the chance to learn about this disease (Patel, 2005). Because of the loss of the affected bone, the condition is also called disappearing bone disease, vanishing bone disease, and massive osteolysis. Osteolysis means the breaking down of bone. The word is broken up into bone (osteo) and breaking down or destruction (lysis) (LGD Alliance 2016). Fewer than 200 accounts of Gorham’s Disease are reported in the medical literature (National Organization of Rare Disease [NORD] 2008). The condition got its name when Gorham and his colleagues discovered two patients with massive osteolysis in 1954. In 1955, Gorham and Stout discovered further information on these cases and named the disease Gorham’s disease, sometimes called Gorham-Stout disease (Patel, 2005).

The condition includes those known as Pick’s Disease, Frontal Lobe Degeneration and Dementia associated with Motor Neurone disease.

As the second part of this reflection paper, I selected a book ‘A Short History of Disease’ by Sean Martin. He is a writer and filmmaker also known for his other famous books like The Knights Templar, Alchemy and alchemists, the Gnostics. His films include Lanterna Magicka: Bill Douglas & the secret history of cinema. The most alluring thing which conceives me to cull this book is a history of the disease, as a medical professional, it's always tantalizing to know from where all these begins and this book reaches up to my expectations as it started from the first ever recorded disease in the history of mankind. He isn’t lying when he say this a history of the disease. He starts from the earliest bacteria to evolve on the earth, long before there was anything around to infect. This book is divided into seven chapters, each chapter describes the history of diseases in a particular era. Chapter One: Prehistory, Chapter Two: Antiquity, Chapter Three: The Dark and Middle Ages, Chapter Four: The New World, Chapter

The breakdown of the myelin sheath is caused from a mutation of the gene that makes the Adrenoleukodystrophy protein (ALDP). This ALD protein helps the body metabolize saturated very-long-chain fatty acids found in the serum and tissues of the central nervous system. The newly mutated gene no longer acts as a help aid to breaking down the long-chain fats. Therefore, the body starts accumulating an abnormal amount of fat in the nervous system, adrenal gland and testes that sets off an unusual response in the immune system; demyelination.

Since children lack the HEXA-A gene it causes progressive damage and eventually the nervous system will shut down because it can no longer produce vital neurons needed to function the nervous system and life. Beta-hexosamindinidase is located in the lysosomes, which are structures in cells that act as recycling centers and breaking down the toxic substance. Beta-hexosamidnidase role is toxic and fatty substances called GM2 ganglioside. If the gangliosides become overpowering or too much, can cause destruction of the neurons. The excessive storage of the gangliosides in lysosomes is another factor that causes Tay-Sachs. Tay-Sachs occurs usually when the individual lacks the protein hexosamindinidase A and defected and alterations on chromosome 15 (specifically 15q23-q24). More than 50 mutations having been discovered on chromosome 15 and HEXA-A enzyme. The mutation can vary as in deletion, insertion, and splitting in which each mutation alters the protein. The mutation and disorder cause a decrease in enzymes activity. The severity of the disorder depends on the degree of the enzyme activity and deficiency. For example, one mutation includes, the mutation includes a G-to-T substitution at the 3-inch end of intron 5, which makes a short mRNA. Then skipping exon 6 and the polypeptide lacking 34 amino acids. (Tanaka

Pick's disease is a form of dementia characterized by a progressive and irreversible deterioration of social skills and changes in personality, along with impairment of intellect, memory, and language. In 1892 Arnold Pick, a German neurologist studied a patient who in his life had dementia and lost of speech. When the patient died, his brain shrunk, with the brain cells having died (atrophied) in the specific areas of the brain. In Pick’s disease, the frontal and temporal lobes of the brain are most affected. Changes occur in the cerebral cortex (which is how the frontal lobe is affected.) Pick's disease affects the temporal lobes of the brain in 25%, frontal lobes in 25% and both frontal and temporal lobes in 50% of

Tay Sachs Disease, or TSD, is a fatal genetic disorder that result in the degeneration of the nervous system. TSD is presented in three forms, those being classic infantile, juvenile and adult late-onset. The most commonly seen form of TSD is that of classic infantile Tay Sachs Disease. In the classic infantile form, infants generally experience their first symptoms by 6 months of age. Death of infants with TSD is typically by age 5. The symptoms that TSD infants will experience prior to death include: an onset of retardation, paralysis, dementia, blindness and reoccurring seizures. The absence of hexosaminidase-A, or what we will refer to as Hex-A, is the cause

Discussions in regards to race can be fraught with extreme opinions, to examine this subject in a more dispassionate light it is helpful to first define the terms. Race is distinctly different from ethnicity or culture, but is often combined in both writing and thought. From a biological perspective, the description of race in human populations is meaningless, but examined from a cultural basis it can make an enormous difference to a population’s wellbeing, or survival, based solely on their difference in morphology.

Schindler disease type III is intermediate in severity between types I and II. Affected individuals

Whipple's disease is a rare multi system infectious disease that often affects any system in the body including the stomach, small intestines and central nervous system.

the degeneration of brain tissue in mammals. A form of proteins that have undergone alteration form

Hirsch sprung disease is a disease that shows several Signs and symptoms. Approximately more than 75% of children with Hirsch sprung disease show symptoms in the beginning of six weeks of their lives. Newborns frequently begin showing symptoms with in the earliest 24 to 48 hours of life. the most common signs and symptoms infants may experience during Hirsch sprung disease are as the following: Not having a bowel movement in the first 48 hours of life, gradual swelling of the belly, gradual onset of vomiting, fever, sepsis (overwhelming infection), growth failure, refusal to feed, easily palpable fecal mass, foul smelling stool, constipation or a condition in which there is difficulty in emptying the bowels that usually associated with hardened feces that worsens over time, and Small watery stool( Cincinnati children's hospital,2017)

Many scientists hypothesize that protein dysfunction plays a role in the progressive damage and death of nerve cells. The nerve cells may be blocked from communication