DNA and RNA

Spina bifida is a neural tube abnormality that occurs at birth. This disorder affects the baby when the spine is not well formed around a particular part of the spinal cord, causing the spine to appear at some point. This condition can occur in a mild or severe form. In milder forms, usually more commonly, the visible spine is characterized by birthmarks, dimples in the skin, or hairs that grow on the back. A mild case of spina bifida does not require treatment and does not cause major problems and allows patients to live normally. A more severe form of spina bifida is called a meningocele. In this case, the spine pushes the skin, marked with a bulge, and sometimes the fluid may get out of this area. The most severe form, known as myelomeningocele, is when the spinal cord is damaged or pushed out through the spinal canal causing the skin to open and the nerves are visible. Sometimes children with this disorder also have a brain problem that prevents them from living normally. Cau...

Cleft lip is a gap in the upper lip. This gap can occur on the ceiling of the oral cavity (cleft palate), can also on the lips only (cleft lip). In some cases it can also occur in both parts. In general, however, nearly half of cleft lip cases involve cleft in the upper lip and roof of the oral cavity. This disorder can be known through ultrasound procedures of the first trimester of pregnancy. At that time, you can see if there is a disturbance in the process of development of the face area - including the ceiling of the oral cavity. That is why this condition is classified as a birth defect. Cleft lip conditions cause the lips part as split in two, jaw and mouth are not formed, as well as problems on tooth growth. This results in cleft lip cleansers, although in general they have the ability to speak and do not experience hearing loss. Cleft lip conditions are not equal to each other. There is a cleft lip that only occurs on the lips only, but there is also a cleft lip that can...

Fragile X syndrome is the nost cotnntonform offanilial nental retardation and is associated with afragile site at the end of long arn chrotnosonre X. Whilst screening for chrontosoual abnornalities in nentally retarded nales attending special school, we have identified thefirst fanily with afragile x syndrone, to be reported in Indonesia. ph1,sis.1 exatnination,fatnill, l1isg6r, as well as cyto9enetic and DNA studies identified tv,o pheno4,pically abnonnal brorhers who were fragile X posirive 3% (Dn) and 4% (pr). Their sister (Cl) and utother were pheno\,pically and intellectually nornal but were cytogenetically positive for fragile X (6% in the sister and 3% in lhe nother). Molecular analysis confirnted that both broîhers were afected and that their sister and tnother were carriers. Signs and symptoms of fragile X syndrome Physical abnormalities Symptoms of fragile X syndrome can be seen and recognized from the physical look of the sufferer. Usually the people with a spe...

Cystic fibrosis or better known as cystic fibrosis is a congenital disorder that causes severe damage to the lungs, digestive system, and other organs in the body. It affects cells that produce mucus, sweat, and digestive juices. Mucus is a fluid that serves to lubricate and protect the mucous membranes. Normally mucus in the body is liquid and slippery. But in people with cystic fibrosis, the mucus is thicker and sticky, clogging various channels in the body, especially the respiratory and digestive tract. People with cystic fibrosis require intensive care to improve their quality of life. Through the development of increasingly sophisticated health technology, people with this condition usually can still perform daily activities such as school and work. Symptoms of Cystic Fibrosis Symptoms of cystic fibrosis may vary depending on the severity of the disease. Symptoms can appear after birth or just appear when someone has grown up. Airway obstruction may occur in people wi...

Schizophrenia is a chronic mental disorder that causes the sufferer to experience delusions, hallucinations, chaotic thoughts, and behavioral changes. This usually long-lasting condition is often interpreted as a mental disorder considering the difficulty of the sufferer distinguishing between reality and the mind itself. Schizophrenia disease can be affected by anyone, both men and women. The age range of 15-35 years is the age most vulnerable to this condition. Schizophrenia is estimated by one percent of the world's population. Signs that indicate a person experiencing schizophrenia, as reported by psychcentral.com. 1. Isolate or withdraw from social interaction 2. Irrational, saying or believing something strange or odd 3. Increased paranoia or questioning the motivation of others 4. Easy emotions 5. Enmity or suspicion 6. Increased dependence on drugs or alcohol (in an attempt to self-medicate) 7. Lack of motivation 8. Speak in a strange way unlike themselves ...

Duchenne muscular dystrophy (DMD) is a progressive, progressive, and hereditary muscular dystrophy about boys. The incidence of the disease is relatively rare, only amounted to one of 3500 male births. The disease is passed down through X-linked recessive, and only about men, while women are just as career. In the DMD there is a genetic disorder that lies on the X chromosome, locus Xp21.22-4 which is responsible for the formation of the dystrophin protein. Pathologic changes in dystrophic muscles occur primarily and are not caused by secondary disease due to central nervous system or peripheral nervous disorders. Distrofin is a very long protein with a molecular weight of 427 kDa2.4, and consists of 3685 acids amino.2 The main cause of degenerative processes in most DMDs due to deletions on the segment of the gene in charge answer to the formation of dystrophin proteins in the membrane muscle cells, resulting in the absence of such proteins in muscle tissue. 2 Erb2.5 in 1884 for ...

Noonan Syndrome is a genetic disorder that impedes normal development in various parts of the body. A child can be stricken with Noonan syndrome in a variety of ways: unusual facial characteristics, short stature heart defect, other physical problems, and sometimes mental retardation. Noonan syndrome is caused by a genetic mutation and are obtained when a child inherits a copy of the affected genes from the parents. It can also occur as a spontaneous mutation in children, which means there is no family history involved. The characteristics of children with Noonan Syndrome, among others: 1. Characteristics of the face -Early childhood. An infant with age less than 1 month seems lowly ears, short neck and at the back of the head low hairline -Childhood. Children have eyes stand out with the slope down and the nose is wide and round. Often seen the lack of facial expression. -Teens. At adolescence, her face is wide, usually the facial features become sharper and less promine...

Huntington's disease is a disease that attacks the nerve cells of the derivative on the brain. Damage to this brain worsen over time and can affect the movement of the body, the brain's cognitive functions (perception, consciousness, thinking, judgment), and the behavior of its victims. Huntington's disease was originally called Huntington's chorea (chorea "Greece means dancing). This is because patients often do uncontrolled movements that look like dance that tugs. The name of the disease is derived from the name of a health expert, namely George Huntington who is an inventor and explain about the disease for the first time in 1872. Huntington disease genes are dominant, so the kids of parents who suffered from Huntington's disease has a tendency to have the same disease. The Symptoms Of Huntington's Disease Huntington's disease usually causes disorders psychiatric, cognitive and motion with a wide spectrum. The first symptoms appear varies...

Tourette's syndrome is a neuropsychiatric disorder in which the patient performs a series of repetitive, unintentional, out-of-control, and sudden movements. These behaviors are called tic. Tourette's syndrome usually begins at age 2-15 years and is more common in boys than in girls. A child can experience tic at a certain age and is generally not very visible. Tic occurs in a disappearance and usually disappears within a year. In patients with Tourette syndrome, there are various types of tic for several times a day and last for more than one year. The initial symptoms of Tourette's syndrome are spontaneous or short-term seizures, sudden jerks, twitching noses, or even moving mouths. The symptoms of tics between one person and another can be different. Others have to bend or twist their bodies many times as their "character" tics. These early symptoms are usually seen first in childhood, with an average first appearance between the ages of 3 and 9 years. ...

The definition of dyslexia according to Critchley (1970) is the difficulty in reading, writing, and spelling (disotografi), in the absence of peripheral sensory disturbances. In the sense of not having weakness in hearing, vision, intelligence, emotional primer or environment less support. Dyslexia is a condition of learning disability in a person caused by difficulty in that person in performing reading and writing activities. Although having trouble writing letters and of course learning difficulties, does not mean dyslexia is an intellectual disability. In addition to affecting the ability to compose sentences, read and write, dyslexia also affects the ability to speak on some pengidapnya. While the development of standard capability remains normal, such as intelligence, analytical ability and sensory power in the sense of taste. Characteristics of Dyslexic Patients Having trouble learning the names of objects and sounds of letters. Spelling ability is inconsistent a...

Apraxia or dyspraxia is a speech disorder caused by motor abnormalities (muscular motion), which inhibits one's ability to move the tongue and lips properly to speak. Apraxia can also affect the process of chewing and swallowing. "Apraxic Speech" or apraxia words have many sound errors, and can sound interesting long and / or uneven, bobbing. Apraxia also affects the vocabulary or wording. Apraxia can occur in different forms. One form is orofacial apraxia. People with orofacial apraxia can not voluntarily perform certain movements involving the facial muscles. For example, they may not be able to lick their lips or wink their eyes. Other forms of apraxia affect a person's ability to deliberately move his hands and feet. The features that can be seen in kiddy apraxia are Vocal sounds are limited during infancy Error in vocal sound (a, I, u, o, e) Mistakes increase in longer words or more complex verses Groping (adversity on face and organ articulator) Los...