DiGeorge Syndrome: A Study in Chromosomal Errors DiGeorge syndrome is an anomaly that occurs when the 22q11.2 chromosome has been deleted‚ causing many different symptoms in various parts of the body. Those affected by DiGeorge syndrome often display signs of heart disease and defect at birth‚ presence of "cleft" palate (opening in the roof of the mouth)‚ learning disorders‚ autoimmune diseases (such as rheumatoid arthritis)‚ hypocalcaemia (low presence of calcium in blood)‚ speech disabilities
Premium Chromosome DNA Down syndrome
Omenn syndrome is a genetic disease that affects humans at the earliest stage of life. As an immunodeficiency disorder‚ it affects the immune system of the human body. The syndrome impairs the function of T cells and causes an absence of B cells. Both of these cells are lymphocytes and a type of leukocyte or white blood cell. In turn‚ this cause patients to have a hard time fighting off various types of infections that include fungal‚ viral‚ and bacterial antigens. Missense mutations in the RAG1
Premium Immune system Blood Bacteria
Nephrotic Syndrome: Inflamed is No Game Rasmussen College Author Note This research is being submitted on March 7‚ 2014‚ for Kara Wall’s NUR1470C Maternal Child Nursing Course. Nephrotic Syndrome: Inflamed is No Game In nephrotic syndrome‚ it is essential to understand the function and inner workings of the kidneys. The human body requires blood to be circulated in order for organs and tissues to be perfused. The perfusion of blood is enriched with products such as plasma
Premium Kidney Inflammation Immune system
Angelman syndrome is a genetic disorder that cause developmental delay and neurological problems. There is sometimes sleep disturbances‚ seizures‚ jerky movements‚ frequent laughter or smiling and usually always happy. The people that have this tend to not use many words‚ or none at all. Most likely they are very hyper and have little balance. An older term that people use to use would be‚ happy puppet syndrome‚ but it is no longer an accepted term. When people have Angelman syndrome‚ they appear
Premium DNA
Marfan Syndrome is caused by a genetic mutation. Marfan can be passed on from parents or can occur spontaneously. The disorder happens in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength. The mutation results in an increase in a protein called transforming growth factor beta‚ or TGF-B. The increase causes the problems in the connective tissues of the body. Marfan Syndrome is an autosomal recessive disorder. An autosomal recessive
Premium
Genetically transmitted disease Down syndrome Down syndrome is a genetically transmitted disease‚ the symptoms of this disease can vary depending on the person‚ but children with Down syndrome have unique physical characteristic traits for example: decrease in muscular tone‚ excess skin around the nape‚ widened nose‚ among others. Some mental characteristics are: impulsive behavior‚ short periods of attention and slow learning. Some of the disease’s effects are: pulmonary hypertension
Premium Down syndrome Gene Chromosome
The disease I chose was compartment syndrome because it’s very rare‚ fewer than 20‚000 US cases per year. Compartment syndrome is when a very dangerous and very painful condition cause from pressure builds up from internal bleeding or swelling of the tissues‚ the pressure decreases blood flow‚ depriving muscles and nerves of needed nourishment. The cause of this disease is often causes by injury‚ such as a fracture‚ that causes bleeding in a muscle which then causes increased pressure in the muscle
Premium
Tourette Syndrome was first described by a French doctor named Georges Gilles de la Tourette. (Joseph‚ Kidshealth) The disease can be very hard to control depending on the severity. It can cause repetitive movements or sudden jerks such as excessive eyeblinking‚ or shrugging your shoulders and even head jerking. Tourette’s can also can cause you to say unwanted things such as offensive phrases/words or blurting out random words‚ which are typically called tics. (Tourette Syndrome‚ Mayoclinic) Tics
Premium Obesity Nutrition Autism
Everyone knows about Autism‚ and Down syndrome‚ and mental retardation‚ but why not savant syndrome? Well actually most of you have heard about it. You have all heard of Kim Peek‚ or at least sort of. Kim is an autistic savant with eidetic memory (the ability to recall images‚ sounds‚ or objects in memory with great accuracy
Premium Music Wolfgang Amadeus Mozart Piano
Sjogren syndrome is a chronic‚ slowly progressive‚ inflammatory autoimmune disorder characterized by dryness of the mouth and eyes. This autoimmune illness features inflammation in the lacrimal and parotid glands. The inflammation in the lacrimal gland leads to decreased water production for tears‚ causing dry eyes. The inflammation in the parotid leads to decreased saliva production in the mouth‚ causing dry mouth and dry lips. The two distinct forms of Sjogren syndrome are primary and secondary
Premium Immune system Inflammation