Goodpasture's syndrome

Goodpasture’s Syndrome, also known as Goodpasture’s Disease, antiglomerular basement antibody disease, or anti-GBM disease is an autoimmune disease affecting the lungs and kidneys. In this rare disease antibodies are formed that attack the collagen in the lungs and kidneys leading to kidney failure and bleeding in the lungs. The laboratory plays an important role in the diagnostic process of Goodpasture’s disease. Patients will experience edema, joint pain, changes of urine color, and electrolyte imbalances in the blood. Goodpasture’s Disease is treatable with steroids, different blood products, immunosuppressants, and has a good prognosis if diagnosed early. Some patients have a genetic predisposition to developing the disease. Other…

Goodpasture syndrome is classified as an autoimmune disease due to B and T-cell mediated responses that result in the patient’s body to development antibodies against its own normal tissue, specifically the basement membranes of the glomerulus (glomerular basement membranes) and of the lungs (alveolar basement membranes) More specifically, the antibodies are developed against the noncollagenous domain 1 of the alpha 3-chain of type IV collagen). The noncollagenous domain 1 alpha 3 chain of type…

This is a test to screen a pregnancy to determine whether a baby has an increased chance of having specific chromosome disorders. The test examines the baby's DNA in the mother's blood. Williams Syndrome Williams syndrome is a rare disorder that can lead to problems with development. It is passed down in the offsprings of families. One of the 25 missing genes is the one that produces elastin, a protein that allows blood vessels and other tissues in the body to stretch. It is likely that…

Mohammad Ekrama Biology 22 Professor Clark 1october 2016 Christianson Syndrome Abstract: Christianson Syndrome is a super rare disease, it is a recessive X-linked disorder ,that usually affects the human body, specifically the nervous system. There are a lot of symptoms for this disorder like ataxia, seizures, epilepsy, severe mental retardation and microcephaly. Mutations on the SLC9A6 gene cause Christianson Syndrome, this gene is located on the X chromosome. This disorder is usually…

disabilities, what sickle cell does in children with neurodevelopment disorders, and what psychiatric disorders and down syndrome does in adolescents and young adults. This paper will only contain abstracts of my own doings for each journal I have obtained for this study. I will not be going into depth with every single disorder that is within a neurodevelopment disorder such as Mendelsohn’s Syndrome or…

Angelman syndrome is a rare genetic disorder that affects around 1 in around 12,000-20,000 live births and affects both males and females equally. Angelman syndrome is very often misdiagnosed as autism or cerebral palsy. Angelman syndrome is not an inherited disease, and is instead caused by a change in the E3 ubiquitin protein ligase gene (UBE3A) on the maternal chromosome 15. This change prevents the chromosome from functioning properly. It occurs as a random event during the formation of eggs…

Overview: What is Williams Syndrome? Definition: Williams Syndrome is a genetic disorder, resulting from the deletion of 26 or more genes one chromosome number 7 (Mervis et al., 2000). That seemingly small loss can affect numerous parts of a person’s physical and mental health, as well as social behavior and sensory perception (Genetics Home Reference, 2014). Diagnosis: Williams Syndrome is a genetic condition that a child is born with and it can impact a child’s prenatal development as well…

In 1965 Harry Angelman reported clinical findings in three children with similar, unusual, attributes. These children had what was known as “happy puppet” syndrome, but was later changed to Angelman syndrome, due to its pejorative name. Angelman syndrome is a neurodevelopmental disorder distinguished by: severe learning difficulties, ataxia, jerky movements, epilepsy, speech impairments, hypopigmentation in the hair and the skin with blue eyes, subtle dysmorphic facial features, and happy and…

The speaker Adrienne Bashista gave a very insightful speech about what Fetal Alcohol Syndrome is and how it is caused. Before our speaker told us about her son, I had very little knowledge about what FASD was. I now realize how severe FASD is and how even the slightest consumption of alcohol can affect a fetus during pregnancy. I became aware that FASD is a rare syndrome that only 2 to 5 percent of the population have. This statistic surprised me due to a large amount of woman who may drink when…

Williams Syndrome (WS) is a rare genetic disorder that affects approximately 20,000 people in the United States. This condition is present at birth. The causes of Williams syndrome is due to the deletion of 26 plus genes on one of an individual’s chromosome #7. Individuals born with Williams syndrome share a number of common neurological, medical, and behavioral characteristics as well as common facial features. Some of the individuals experience mild cardiovascular disorders that may…