Kawasaki Disease : An Autoimmune Disease

Takotsubo cardiomyopathy was first acknowledged in Japan in 1990 by Sato et al (Djuric 512). The United States did not have any report of Takotsubo until 1998 (Sharkey e460). Since 1998, scientific interest in Takotsubo has steadily increased. Dr. Scott Sharkey validates the increase in scientific interest: “In 2000, only 2 publications were recorded, compared with nearly 300 in 2010. Now, takotsubo is widely recognized, with reports form 6 continents and diverse countries” (e460).

Differential diagnoses for the child includes, Pediatric Rocky Mountain Spotted Fever, Measles and Kawasaki Disease (Bennet, 2015).

Imagine your child dying a few months after they are born because of the genes you passed down to them. This is possible with many genetic diseases; one such disease can be Krabbe disease. Krabbe disease changes many aspects of a diagnosed person’s life because of the troubling and debilitating side effects. Children with Krabbe disease might not be able to complete daily activities. This can affect not only the child but also the people around them.

Cardiofaciocutaneous syndrome is a very rare and serious genetic disorder that generally affects the heart, facial features, and skin of an individual. It is caused by a desultory gene mutation, which takes place in one of four genes. Those genes are known as BRAF, MEK1, MEK2, and KRAS. From research, it is also suspected there is a possibility that other genes are associated with the rare condition. This disorder holds multiple alternative names, a long history, obvious symptoms, extensive amounts of interesting data, and is lucky enough to be supported by numerous organizations that will stop at nothing to help.

Affecting 1 in every 18,000 people, Adrenoleukodystrophy (ALD) is a genetic disease that destroys the myelin sheath surrounding a brain neuron. A brain neuron is an essential cell body that is responsible for muscle contractions and ultimately, our ability to move. Adrenoleukodystrophy is a devastating genetic mutation that affects X-chromosomes in both males and females. However, because males only have one X-chromosome, the outcome is catastrophic.

This disease is genetically inherited and is a dominant characteristic, therefore unfortunately the offspring of a victim has 50% chance of inheriting the disease.

It is an inherited genetic disease. It is passed down in families in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show any symptoms. Around 1 person in every 150 people are thought to be carriers. There are two types of Krabbe disease the infantile and the late on-set. The infantile form, which affects 85 to 90% of people with

The Human Body is an oasis of life. Still, every waking moment of our lives, our bodies endure vicious attacks. Bacteria, viruses, fungi, microbes, toxins, and parasites - I like to think of them as invaders from the outside world. Each invader is equipped with its own specialized method of attack. On a microscopic level, our bodies fight a life-long war. As the battle rages, our immune system kicks in and protects us against the perils of illness. The immune system is not made up of one particular tissue or organ. Instead, an arsenal of defense cells; including lymphocytes, bone marrow, and leukocytes join forces to keep us healthy. Besides the occasional times we get caught in the crossfire with a common cold, a healthy immune system keeps

What is Kennedy’s Disease? Kennedy’s disease is an inherited neurodegenerative disorder that affects both the spinal and bulbar neurons. KD is a lower motor neuron disorder because it interrupts the transmission of nerve cell signals in the brain and spinal cord. This interruption affects the spinal and bulbar neurons causing the major symptoms muscle atrophy, weakness, contraction fasciulations, and bulbar weakness. KD is the first of the neurodegenerative disease for which the molecular basis was discovered to be the expansion of a trinucleotide CAG repeat in the causative gene (Banno, 2012, p.313). The disease is inherited from an impaired x gene. Since KD is a recessive X- linked gene it primarily affects males. Females are rarely affected because they have two X chromosomes and are usually just carriers of the defective gene. The carriers of the gene are usually asymptotic but occasionally can develop mid symptoms. (Cell and Tissue Research, 2012, p. 13)

Muscular dystrophy (MD) is a group of genetically transmitted diseases characterized by progressive symmetric wasting of skeletal muscles without evidence of neurologic involvement (Lewis, 2011). There are four different types of muscular dystrophy. The four types are Duchenne, Becker, Landouzy-Dejerine, and Erb. Duchenne muscular dystrophy is the most common type among children. It only affects boys; it’s passed down from the mother. Duchenne muscular dystrophy is created from X-linked recessive gene from the mother. About one in thirty-five hundred boys are born with Duchenne muscular dystrophy. The boys will experience weakening of the muscles, wasting and contractures and inability to walk by themselves by the time they even reach

PKU is passed on in a “autosomal recessive” gene. This means that a person may have one of the genes for the disease but if they have the other dominant gene they will not be affected by the disease. In the diagram ‘P’ is the dominant gene and ‘p’ is the recessive gene. People who have one recessive gene and one dominant gene ‘Pp’ are called silent carriers. The person with ‘PP’ does not have any of the PKU gene. The person with ‘pp’ has PKU. Each time two carriers reproduce the chances the baby of having PKU is 25%. The chances of them being a silent carrier is 50%. One in every about fifty people in the general population are carriers. And the chances of that carrier’s mate is a carrier is about one in 2500. PKU occurs in about one of out every 10,00 babies born in the United States. Incidents of this disease occur equally in male and female babies.

2014). There has also been observed phenotypic heterogeneity among common mutations that ware documented within families, this despite specific phenotypes being associated with those known mutations (Zou et al. 2014). The study performed concludes that EOAD is a highly heritable disease, though not necessarily a polygenic disease like it was originally thought (Wingo et a2012). Due to the high heritability rate found in the study, from 92-100%, it is deduced that EOAD is almost completely based within genetic factors. In the Wingo et al. (2012) study, a concordance of less than 10% was found between parent and their offspring, thus suggesting that EOAD is caused by a single autosomal recessive locus. An explanation for this given is that about 10% is due to the autosomal dominant, while the rest of the cases are either a recessive allele at a single locus or smaller number of loci that presents in women but has less penetrance in males (Wingo et al.

Cardiovascular disease has reportedly been the number one disease killer for men and women in the United States of America. Every one out of four deaths is caused by heart disease in the United States alone (Centers for Diseases Control and Prevention). Heart disease refers to the different types of conditions and symptoms that can affect the one’s heart and its functions to the body (Mayo Clinic). Cardiovascular/Heart disease has many causes and conditions, prevention methods and symptoms, and treatment options.

“[...] 1 in every 100,000 children in the U.S. under the age of 18 is diagnosed with cardiomyopathy” (“Understand Pediatric” 1). This condition affects many children throughout the world. Some cases of cardiomyopathy are fatal, some allow the child to live with restrictions. Cardiomyopathy is the leading cause of death and heart transplants in children (“Understand Pediatric” 1). There are many different ways to help diagnose the numerous forms of this disorder, treatments to help stop other problems from occurring, and therapies to help the restrictions some may live with. Various medical fields have been looking into and studying what the leading causes could be for this disorder ("Progress to date" 1). There are many symptoms a child can show for a doctor to see in order for them

It was found in recents studies that KS is most commonly inherited maternally. Due to the regular levels of aneuploid sperm men produce, all men in the general public have a risk of producing an aneuploid child, therefore producing a child with KS. Knowing this, a man does not necessarily have to have KS to still produce a child with Klinefelter syndrome however it is more common for a child to inherit Klinefelter syndrome if his father also has KS.