Kallmann ’s Syndrome ABSTRACT Kallmann’s syndrome is a rare disorder which affects predominantly man. Typical characteristics are a failure to go through puberty and an absent sense of smell. Although the disease is not life threatening‚ somebody with kallmann’s syndrome has an hormonal imbalance hypogonadotropic hypogonadism due to GnRH deficiency because a small area of his or her brain called the hypothalamus is unable to work properly. Specialised hormone replacement therapy is available
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Rett Syndrome for Girls Only Rett syndrome is very rare neurological disorder that affects the brain. The disorder primarily effects girls only‚ but there has been reported cases of males with the disorder. The disorder is rare‚ it effects one in every 10‚000 to 15‚000 females‚ in all racial and ethnic groups. Rett syndrome effect one in every 100‚000 males. Rett Syndrome impairs the child’s speech‚ motor functions‚ daily activities‚ and respiratory functions. Rett Syndrome is usually diagnosed
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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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Marfan’s Syndrome Marfan syndrome is an inherited connective-tissue disorder transmitted as an autosomal dominant trait. It is distributed worldwide‚ has a high prevalence rate and has pleiotropic manifestations‚ meaning one gene influences multiple traits that do not seem to be related. Mutations of the FBN1 gene on the 15th chromosome (more specifically chromosome 15q21.1) cause Marfan syndrome. The FBN1 gene is coded to make a glycoprotein called fibrillin-1
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Running head: METABOLIC SYNDROME Metabolic Syndrome James Doucette College of Western Idaho Abstract Metabolic syndrome is an emerging diagnosis in the medical field that has effects on patient care. Becoming familiar with it and having it become a common part of patient care will‚ if used appropriately will increase the lives of those who have become affected with or are at risk of becoming diagnosed with metabolic syndrome. Metabolic syndrome is a constellation of risks
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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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s Rett’s Syndrome Website: http://understandingrettsyndrome.webs.com History Rett Syndrome is a developmental disorder experienced almost always in girls‚ and is first recognized during infancy. Before the discovery of this disorder‚ incidents of Rett Syndrome were mistaken for many other neurologic disorders such as Autism‚ Cerebral Palsy‚ or Nonspecific Developmental Delay‚ especially in females. An Austrian physician‚ Dr. Andreas Rett‚ first described this
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Reye Syndrome Reye Syndrome is an extremely rare‚ non-contagious disease thought to be triggered by aspirin use. The actual origin of the disease is unknown. Reye’s Syndrome‚ occasionally called Reye-Jacobsen’s Syndrome‚ is known to follow any viral infection. Two of the most common viral infections it precedes is influenza‚ "the flu"‚ and chicken pox. A now-familiar warning on bottles of aspirin‚ most notably Tylenol‚ is not to give Tylenol to a child who is recovering from the chicken
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Marfan Syndrome Have you ever wondered about the diseases that you can get from your parents? One of these major diseases that can change someone’s life is called the Marfan Syndrome. Marfan Syndrome is a disorder of connective tissue that is inherited from the parents. The bones and circulatory system are usually the parts of the body that are longer and the ones that are changed because of the disease. There are many things that can cause a disease. Marfan syndrome is caused by a mutation
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Down Syndrome What is Down Syndrome? Where does it come from? Is there a cure? About one in every 800 American babies is born with Down syndrome‚ and it is estimated that about 350‚000 people in the United States‚ and just under 6 million people worldwide live with this condition today. There is a false impression that pregnancy screening has eliminated or substantially reduced the incidence of Down syndrome in the population. Despite years of screening‚ the Down syndrome population in the
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