Symptoms And Treatment Of Kartagener 's Syndrome

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

The patient whose chromosomes are organized on the Karyotype Worksheet #1, is a normal female as indicated by her XX sex chromosomes, with a total number of 46 chromosomes and her karyotype doesn’t exhibit any aneuploidy or structural errors.

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

CHARGE syndrome is a rare genetic disorder that manifests itself in 1 in 10,000 newborns. The syndrome is characterized by complex yet identifiable clinical features including Coloboma- which involves a cleft in one of the structures of the eye, heart defects, choanal atresia- a narrowing or blockage of the nasal cavity, retardation of growth and development, genitourinary malformation and various ear abnormalities (Kim et al., 2014). Although these malformations are associated with CHARGE syndrome, the specific pattern and severity of symptoms varies among diagnosed individuals (Hsu et al., 2014).

The list of proposed chronic abnormalities is lengthy. To this date, research has confirmed the following: 1) SIDS is due to a dysfunction of the cardiac and/or respiratory systems, and 2) the death of the infant is due to hypo-ventilation of the lungs and periods of complete cessation of breathing or apnea. Hypo-ventilation and apnea cause hypo-perfusion of the tissues with necessary oxygen. Ischemia of tissues results and eventually causes death. Research now centers around discovering the cause of infant hypo-ventilation and apnea.

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

described the characteristics and symptoms of this disease and what exact organs it relates to.

In early 1981, an unknown epidemic was spreading across America. In June of that year, the Centers for Disease Control (CDC) reported five cases of a strange pneumonia in Los Angeles. By July, 40 cases of an even rarer skin cancer was being reported by providers working in the gay communities of New York and San Francisco. By August, the Associated Press reported that two rare diseases, the skin cancer Kaposi's sarcoma and pneumocystis, a form of pneumonia caused by a parasitic organism, had infected over 100 gay men in America, killing over half of them. By the end of the year, theses combined diseases had taken 121 lives; 1983 gave a name to the disease and by 1984 the virus had been isolated. Two years later, the virus was given its current

Rozel’s mother was in labor for a long period of time while giving birth to Rozel that it decreased the supply of oxygen that Rozel received during delivery. Her mother had an induced labor to facilitate childbirth and she was able to give birth to Rozel through normal delivery. At birth, Rozel was successfully resuscitated due to the difficulty of breathing. She was diagnosed with laryngomalacia which causes partial blocking of the airway opening. She was then hospitalized for one month and received medicines through injections but her mother could not recall the names of the medicines. During her hospitalization, Rozel had convulsions. There was no sound produced when she cried. A neonatologist/pediatrician diagnosed Rozel with developmental

While at the hospital, the couple was told of a fellow child who had Krabbe disease. This rare disorder of the nervous system is genetically inherited and fatal. Individuals with Krabbe disease do not make enough myelin to protect their nerves, so the nerves and brain cells stop working correctly. There is no cure for Krabbe disease, and only a risky, expensive treatment known as hematopoietic stem cell transplantation showed any signs of helping the disease.

Krabbe’s disease has many signs and symptoms. There are three stages of this condition in infantile form. Stage 1: The infant is seemingly normal and healthy for the first couple months after birth. However during early onset of this disease, the child has signs of incoordination, vomiting, irritability, unexplained fevers and stiff posture. Initial symptoms that may occur are seizures (Wenger 2000). There is slight developmental regression and behavioral abnormalities, in particular, displaying hypersensitivity to sound and touch (ORDR). Throughout this stage, the Cerebrspinal Fluid (CSF) protein concentration at this point is significantly increased (Wenger 2000). The CSF is a liquid that bathes the brain and spinal cord. Its function is to cushion the brain and spinal cord, protecting against injury. It also circulates chemicals and certain nutrients that are filtered from the blood and it also removes waste products from the brain (Lantos 2011).

Primary Ciliary Dyskinesia (PCD) is a rare, heterogeneous and largely autosomal recessive disorder. The disease can be caused by different genetic mutations that will result in the same genetic disorder. Currently, there are more than 20 genes with mutations that can cause PCD. In order for the patient to develop this congenital disorder, two copies of the mutated gene, one from each parent, must be present. Abnormal characteristics include both the function of the motile cilia and the structure, although the structure may also be normal (Boon et al.). The cilia in the airway do not move the mucus out and this causes infections due to the mucus accumulation. Another component of this disease is upper and lower respiratory tract infections.

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.

Other names for Klinefelter Syndrome is the abbreviation KS. The cause of this disorder is an extra X chromosome on a male sex chromosomes. Therefore the male would have the genotype of XXY instead of the preferred XY. While this disease does affect the human throughout their entire life and as of now is incurable, it can be detected through prenatal testing. The only group affected from this genetic error are males; this error is only found with X and Y chromosomes not only the X.

Klinefelter’s syndrome is a genetic condition about the difference of the male's physical and mental development with this syndrome. Klinefelter's is also known as XXY syndrome, XXY trisomy, mosaic syndrome, and Poly-X Klinefelter's syndrome. In 1942, Dr. Harry Klinefelter discovered and named Klinefelter’s Syndrome. Dr. Klinefelter was working at the Massachusetts General Hospital in Boston where he found nine men with this syndrome.