Kartagener's Syndrome Research Paper

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.

The cell’s nonmembranous organelles include the cytoskeleton, microvilli, centrioles, cilia, ribosomes, and proteasomes. Membranous organelles include the endoplasmic reticulum, the Golgi apparatus, lysosomes, peroxisomes, and mitochondria.

Krabbe disease is a disorder in the nervous system in which the patient becomes unable to function correctly. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. A large cell of a primary germ is found clustered together in the space between the skull and the brain causing it to destroy the cells. Although, this disease generally directed at infants it may also develop in an older child or adult.

Prader - Willi Syndrome is caused by the deletion or not getting Chromosome 15 from the dad. This disorder

An individual will be diagnosed with COPD based on their signs and symptoms, their medical and family history, and test results. The doctor examines using a stethoscope to listen for wheezing or other abnormal chest

Reye’s syndrome is an acute condition of the brain and liver that’s exact cause is unknown. It has been strongly implicated with the use of aspirin and other salicylate containing products for the treatment of viral infection in children.1 Children under the age of 12 are at higher risk for developing Reye’s syndrome. Our patient Nick, was a 16 year old boy recovering from the flu he had last week; he was given chicken soup, hot tea with lemon, and aspirin. His age, aspirin use, and medical history put him at a higher risk for the development of Reye’s. Because Reye’s syndrome is associated with viral infections (mainly flu and chickenpox), highest rates of development occur during the winter months (flu season).1 Although Reye’s syndrome is

Reye’s syndrome is a rare but serious condition that will cause swelling of the brain and liver. The Reye’s syndrome occurs to children and teenagers recovering from the flu. The signs are confusion, seizures and loss of consciousness that could need emergency treatment. If it is treated early the diagnosis could save the child.

Dubowitz syndrome (DS) was discovered by Victor Dubowitz more than 40 years ago in female child he was working with. It is described as a rare autosomal disorder, with fewer than two hundred cases reported worldwide. (Groiss R, 1971).There is more recent research that hypothesizes that this syndrome might be more microduplication and or micro deletion. (Maas N, 2006). In some diagnosis the disorder has been confused with Bloom syndrome, fetal alcohol, and Fanconi anemia syndrome. (Pascual JC, 2005).Since there is no genetic reason for the disease but is thought to be pasted down or inherited from mother or the father that may carry a certain recessive gene. There is no way to test for the disease so these patients must be evaluated by different health care professionals that will focus on the physical

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 presentation will focus on the etiology, clinical manifestations and anatomic alterations of Kartagener syndrome while also exploring diagnostic and treatment modalities. Kartagener syndrome was diagnosed by a Swedish physician Manes Kartagener in 1933. It is a relatively rare syndrome with each child of the affected parents has a twenty-five percent chance of developing the syndrome, estimated 15,000 people in the United States have it.

These treatments should be started as early as possible. The seizures are often easy to control and treat. At the initial time, antiepileptic drugs will be used to prevent seizures, but this therapy cannot be used to treat behavior or language problems. If there is no effect, doctors will take the therapy of ketogenic diet or treatment with intravenous immunoglobulin. Multiple subpar transections (MST) is a controversial treatment, which is applied for children who are unable to speak a language fluently and

Patients are being misdiagnosed due to the fact that their symptoms are common and that they are found in other conditions. PCD is often diagnosed late even though the disease is present during birth. Common symptoms of this disorder include rhinorrhea, chronic productive cough, rhinosinusitis, inflammation of the middle ear and prolonged discharge from the ear. Most patients will have extra testing done to rule out similar respiratory conditions, such as a sweat test and serum immunoglobin measurements. Symptoms or conditions that suggest PCD are situs abnormalities, positive family history, idiopathic bronchiectasis, agenesis of one or both sinuses, male infertility, ectopic pregnancies and, diagnosis in other family members, (Bush & Hogg).

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.

Progeria is not inherited within families, yet it is a gene change that can occur between a single sperm or egg before conception. However, there are two inherited syndromes are similar to progeria that cause rapid growth and can result in death at an early age: Wiedemann-Rautenstrauch syndrome and Werner syndrome. Weidermann-Rautenstrauch syndrome starts in the womb, and shows sign of aging from birth; while Werner syndrome happens in the teens years or early adulthood, and shows signs of premature aging and health conditions that old people usually have such as diabetes (Mayo Clinic, 2014). Werner syndrome is caused by a recessive mutation in the Werner syndrome, RecQ helicase like (WRN) gene. Mutation in the WRN can cause symptoms in humans

Klinefelter syndrome, also known as “47, XXY”, is a chromosomal disorder caused by nondisjunction. Nondisjunction occurs when chromosomes do not separate fully during meiosis. This results in sex cells with the wrong number of chromosomes. A zygote with two X chromosomes and one Y chromosome forms when a normal sex cell, which is a sperm or egg cell, combines with a sex cell which has an extra X chromosome. The extra X chromosome will show up in the karyotype of an infected individual. Individuals with Klinefelter syndrome have two X chromosomes and one Y chromosome, giving them a total of 47 chromosomes, as opposed to the normal 46. Unaffected males have one X and one Y chromosome, and females have two X chromosomes. Even though individuals

The study of motile cilia has been very significant with a range of models and experiments that scientists have conducted specifically for knowledge of the cells ambiguous occupation in the human body. In comparison to the other study’s conducted one stands out most of all. It is the the algae, Chlamydomonas reinhartii, a biflagellate single cell organism whose cilia express a set of proteins that provide a necessary function in the motile human cilia. The main causal difference in types of cilia most likely derived from expression of sensory receptors on the motile cilia to attain material from the environment. “It has been posited that enhanced specialization of cilia lead to the development of complex sensory organs such as the retina” (Biosci