Myelodysplastic syndromes have historically been subjected to incomplete definitions and biologic understanding of disease.1‚2 With the better understanding of this disease by morphology‚ cytogenetic evaluation and molecular testing it is now easier to categorize this disease. Myelodysplastic syndrome could not be described as a distinct syndrome until the first half of the 20th century when bone marrow biopsies were started in routine. Still‚ early suggestive reports can be found in the medical
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Korsakoff’s Syndrome Korsakoff’s syndrome is a disorder in which a lack of thiamine results in anterograde and retrograde amnesia — those with the disorder exhibit the loss of newly formed memories‚ and a degeneration in their ability to remember events from their past (Spiegel‚ Lim‚ 2011‚ p. 15). Found generally in alcoholics‚ the combination of their compromised metabolism and thiamine deficiency results in Wernicke’s Encephalopathy‚ which then progresses to Korsakoff’s syndrome (Thompson‚ Guerrini
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Cushing’s Syndrome Cushing’s Syndrome is a condition that results from chronic exposure to excessive amounts of glucocorticoids circulating in the blood stream for an extended period of time. The disease was first reported by Harvey Cushing over one hundred years ago‚ yet the condition still plagues endocrinologists today. Reasons for this difficulty include the vast amount of often vague symptoms that the syndrome presents‚ most of which are found in a plethora of other conditions as well‚ combined
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Down Syndrome is a chromosomal abnormality and probably the most common genetic condition‚ occurs in approximately one in every eight hundred to one thousand live births or accounts for approximately 5-6 per cent of intellectual retardation. Although‚ most students with Down’s Syndrome are between the mild to moderate range of mental retardation. Initially‚ Down’s Syndrome was given the label of Mongolism due to the physical characteristics of the disorder. A student with Down’s Syndrome is usually
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Having a Down syndrome is such a difficult situation for an individual to have. They have slow physical and mental capabilities that lead them to discrimination. Physical features of having a Down syndrome. Including flattening of the head; slanting of the eyelids; a gap between the first and the second toes; a depressed nasal bridge; relatively small ears‚ mouth‚ hands and feet; short stature; decreased muscle tone and loose ligaments among others. Not every child with Down syndrome has all of these
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Kartagener’s syndrome is an autosomal recessive disorder affecting the cilia within the body. Autosomal recessive means that one or more of both the parents’ genes responsible for encoding the cilia’s structure are mutated. This essay will focus on the etiology‚ clinical manifestations and anatomic alterations while also exploring diagnostic and treatment modalities. Cilia are the tiny hair-like structures found in many organ systems including the respiratory and reproductive systems. It was diagnosed
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Rett Syndrome Abstract Rett syndrome is considered one of the autism spectrum disorders. Rett syndrome is a developmental disability disorder resulting in severe mental and physical deficits in female children. Rett syndrome is grouped as a pervasive developmental disorder (PDD) in which conditions are severe and pervasive‚ and that begin in early life and influence multiple areas of development. Rett syndrome‚ including the age of onset and the severity of symptoms‚ varies from child to
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Bloom’s Syndrome is a rare genetic disease known for affecting someone’s physical and genetic traits‚ this disorder can cause problems for whoever is diagnosed with it. Bloom’s Syndrome is a disease characterized by how its identified‚ its frequency‚ how it was discovered‚ its symptoms‚ and its treatments. Bloom’s Syndrome is identified as an autosomal disorder. An autosomal disorder is when the defected gene is carried on a chromosome other than one of the sex chromosomes. Bloom’s Syndrome happens
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Charge Syndrome Introduction Charge Syndrome is a specific collection of non-randomly occurring congenital anomalies. The acronym CHARGE actually stands for the major features of this syndrome. The letter C stands for coloboma of the eye‚ H is heart defects‚ A stands for atresia of the choanae‚ R is retarded growth and development‚ G stands for genital abnormalities and lastly letter E stands for ear anomalies and/deafness. The cause of this syndrome may be genetically heterogeneous‚ but
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WAGR Syndrome WAGR (Wilms’ tumor‚ Aniridia‚ Genitourinary abnormalities‚ and mental Retardation) Syndrome is a contiguous gene deletion syndrome that is caused by a deletion in chromosome 11. The acronym for the syndrome comes from the various symptoms that are caused by the deletion – wilms’ tumor‚ aniridia‚ genitourinary abnormalities‚ and mental retardation. Wilms’ tumor is a tumor that is found in the kidneys that causes nephroblastoma‚ cancer of the kidneys. Aniridia‚ the absence of the iris
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