Sandhoff disease is an uncommon hereditary condition that—along with several other disorders—was previously known as amaurotic idiocy. Sandhoff disease destroys nerve cells (neurons) in the brain and spinal cord little by little over time. The disease is described as the buildup of lipid-containing cells in the internal organs and in the nervous system, mental retardation, and loss of sight. It is one of over 50 hereditarily inherited conditions identified as Lysosomal Storage Diseases
The disease was discovered by Konrad Sandhoff (1939- ), a German biologist. Konrad Sadhoff studied the biochemistry of both sphingolipids and gangliosides and in October 1966, he acquired a frozen autopsy substance from a child with amaurotic idiocy. Variances from the Sandhoff disease and his previous cases of Tay-Sachs disease were soon established from his glycolipid analysis. Sandhoff found out that the storage of GA2 was more prominent, in addition to the neuronal storage of GM2 (ganglioside), and dissimilar from all cases of Tay-Sachs disease studied thus far. He also discovered that the globoside amassed in the internal organs and, hexosaminidase activity was almost entirely non-existent. Aside from being the first to give a biochemical description of GM-gangliosides in 1963 and discovering Sandhoff’s disease in 1968, Konrad Sandhoff also discovered several biochemically distinct diseases—namely Tay-Sachs-Disease, the AB-variant of GM2-Gangliosidosis and the B1-variant of GM2-gangliosidosis.
Sandhoff is triggered by the deficiency of two important enzymes: Hexosaminidase A (Hex A) and Hexosaminidase B (Hex B). The most prevalent and critical form of Sandhoff disease becomes obvious in infancy. Infants with this condition characteristically ...
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...spiratory infections. The patient must always be under continuous scrutiny since they can undergo aspiration or lack the ability to change from the passageway to their lungs versus their stomach and their spit travels to the lungs which, in turn, causes bronchopneumonia. The patient also does not have the facility to cough and so must undertake a treatment to shake up their body to eliminate the mucus from the lining of their lungs.
At the moment, the government is analyzing a number of treatments including N-butyldeoxynojirimycin in mice, in addition to experimental stem cell treatment in a small number of children using transplants of stem cells from umbilical cord blood and other medical treatments recruiting test patients.
Works Cited
http://en.wikipedia.org/wiki/Sandhoff_disease
http://www.marchofdimes.com/baby/tay-sachs-and-sandhoff-diseases.aspx#
Addie acquired Stenotrophomonas bacterial infection in the hospital. She acquired it from the tubes of the lung bypass machine ECMO which doctors used to try and support her respiration after her
Tay-Sachs disease is a form of these lysosomal storage diseases. It is scientifically known as GM2 gangliosidosis: Hexosaminidase alpha-subunit deficiency. Three polypeptides encoded by three separate locations on the chromosome are needed for the catabolism of GM2 gangliosides. When these genes are mutated, the result is a buildup of the glycosphingolipid GM2 gangliosides. Over 50 mutations have been identified. Tay-Sachs disease is the most common form of gangliosidosis and results from a mutation of the alpha-subunit location on chromosome 15. This causes a severe dysfunction in the enzyme hexosaminidase A.
Tay-Sachs disease is a rare and fatal genetic disorder that destroys neurons in the brain and spinal cord. The disease appears in three forms, Juvenile Onset, Late Onset (known as LOTS), and the most common form, Infantile (also known as Classic). The differences between the three forms of the disease are related to the age at which the symptoms of the disease begin to form. Tay-Sachs results from a deficiency of the enzyme hexosaminidase A, which plays a vital role in removing a fatty substance, called GM2 gangliosides, from neurons.
EDS can vary in severity and are transmitted as autosomal recessive, autosomal dominant, or X-linked recessive traits. The primary characteristics are hyperextensible skin and joints (Dia. 1-2, pg.6), tendency to bruise easily (Dia. 3, pg.6), reduced wound healing capability, pseudotumors, and ocular defects. Differences within the six types may reflect inter/intra familial variability or genetic heterogeneity. Each type of EDS is classified symptoms and signs that are resulted (Clarke, D., Skrocki-Czerpak, K., Neumann-Potash, L).
Mrs. Jones, An elderly woman, presented severely short of breath. She required two rest periods in order to ambulate across the room, but refused the use of a wheel chair. She was alert and oriented, but was unable to speak in full sentences. Her skin was pale and dry. Her vital signs were as follows: Temperature 97.3°F, pulse 83, respirations 27, blood pressure 142/86, O2 saturation was 84% on room air. Auscultation of the lungs revealed crackles in the lower lobes and expiratory wheezing. Use of accessory muscles was present. She was put on 2 liters of oxygen via nasal canal. With the oxygen, her O2 saturation increased to 90%. With exertion her O2 saturation dropped to the 80's. Mrs. Jones began coughing and she produced large amounts of milky sputum.
Despite the significant portion of Americans that do not support embryonic stem cell research, it should be federally funded because of the potential health benefits, the definition of human, and the opportunity to clearly define regulations for ethical research. The wide range of prospective uses for stem cells could greatly improve the health and wellbeing of many people. In stem cell treatments, undifferentiated cells are programmed to form specific cells, which can then be transplanted to the afflicted area. Stem cells can possibly treat afflictions including “Alzheimer’s disease, spinal cord injury, stroke, burns, heart disease, diabetes, osteoarthritis, and rheumatoid arthritis” (“Stem Cell Basics”). Another important use is drug testing.
Walton, Sir John. Brain's Diseases of the Nervous System. Oxford University Press. New York, 1955, pp. 365.
instead of a disease. GBS is an autoimmune disorder in that the body starts attacking itself. The
The range and severity of symptoms and findings may be extremely variable, including among affected members of the same family. However, primary findings may include premature closure of the fibrous joints between certain bones of the skull, unusually flat, underdeveloped midfacial regions abnormally broad great toes, and/or malformation or fusion of certain bones within the feet. In some cases, Jackson-Weiss Syndrome may result from new genetic changes that appear to occur randomly for unknown reasons. In other affected individuals, the disorder may be inherited. Mutations in the FGFR2 gene cause Jackson–Weiss syndrome. The FGFR2 gene produces a protein called
Morris, Colleen A., MD. “Williams Syndrome.” National Center for Biotechnology Information. National Center for Biotechnology Information, 9 Apr. 1999. Web. 13 Feb. 2014. .
It is noteworthy to mention that there are numerous diseases associated with rapid ageing and progeria like symptoms. Cockayne, Lison, Werner’s, and Wiedemann-Rautenstrauch Syndromes are amongst these diseases. The shortened term progeria can be used to address any of these disorders but is most often specifically associated with HGPS. This distinct disease was named after Jonathan Hutchinson and Hastings Gilford who each independently described it in 1886 and 1897 respectively. Thankfully, this alarming syndrome is so rare that it only affects about 1 in every 4 million children born.
This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...
Chronic bronchitis is a disorder that causes inflammation to the airway, mainly the bronchial tubules. It produces a chronic cough that lasts three consecutive months for more than two successive years (Vijayan,2013). Chronic Bronchitis is a member of the COPD family and is prominently seen in cigarette smokers. Other factors such as air pollutants, Asbestos, and working in coal mines contributes to inflammation. Once the irritant comes in contact with the mucosa of the bronchi it alters the composition causing hyperplasia of the glands and producing excessive sputum (Viayan,2013). Goblet cells also enlarge to contribute to the excessive secretion of sputum. This effects the cilia that carry out the mechanism of trapping foreign bodies to allow it to be expelled in the sputum, which are now damaged by the irritant making it impossible for the person to clear their airway. Since the mechanism of airway clearance is ineffective, the secretion builds up a thickened wall of the bronchioles causing constriction and increasing the work of breathing. The excessive build up of mucous could set up pneumonia. The alveoli are also damaged enabling the macrophages to eliminate bacteria putting the patient at risk for acquiring an infection.
Hospital-acquired infections (HAI) are preventable and pose a threat to hospitals and patients; increasing the cost, nominally and physically, for both. Pneumonia makes up approximately 15% of all HAI and is the leading cause of nosocomial deaths. Pneumonia is most frequently caused by bacterial microorganisms reaching the lungs by way of aspiration, inhalation or the hematogenous spread of a primary infection. There are two categories of Hospital-Acquired Pneumonia (HAP); Health-Care Associated Pneumonia (HCAP) and Ventilator-associated pneumonia (VAP).
Sphingomyelinase is an acidic lysosomal hydrolase that catalyses the cleavage of sphingomyelin to phosphoryl choline and ceramide. In patients with Pick’s disease its activity is deficient in all lysosome containing tissues. Patients with type A, the infantile form have 0.7% of the normal sphingomyelinase activity with median values in the range of 0-1% , while in patients with adult onset neuronopathic or non-neuronopathic disease the activity range is 0-19% of the normal, with median values in several tissues from 2-8% . This enzyme defect explains the massive deposition of sphingomyelin in tiss...