Thanatophoric Dysplasia Nowadays - Research Paper Example

? Thanatophoric Dysplasia Health science There are various diseases that affect human beings and limit their bodies fromnormal functioning. This pathological condition results from environmental stress, defects related to genetics, and infections. They vary from one type to another; physiological, pathogenic, hereditary and deficiency diseases. Diseases have different stages and their methods of treatment differ. Thanatophoric dysplasia is a disorder of the skeleton where the ribs and limbs are disabled. A condition exposes the patients to short legs and hands, making it difficult for them to perform their normal activities1. In addition, this disease is lethal especially in cases where patients have a narrow throat and an abnormal length of their trunk. It affects people of all ages, but in children a condition of under developed lungs is common. This results to an increase in the infant mortality rates especially when the disease detection fails in its initial stages. Children born with enlarged foreheads suffer from this condition and often the space between their eyes is exceedingly wide. This disease affects the older people and the middle aged causing fatal negative effects. It causes disability and individuals fail to perform as per the expectations set. Mutation is its main cause where improper coding occurs, and this places the chromosomes in wrong places. In most cases, disorders in mutations are inherited through the family lineage2. The disease classification is into two different types; type 1 and 2 based on the extent of infection. Curved femurs, a skull with a cloverleaf characterizes type 1 of the disease. Patients with TD11 portray symptoms of straight femurs neonates with a skull covered with cloverleaf. To diagnose the disease, the administration of different procedures is paramount3. There are various examination procedures to identify the disease such as the prenatal ultrasound, conducted during the third phase of pregnancy. Women should visit clinics for such tests to be administered in order to avoid this form of disability. It is a relatively safe way because it may cause harm to the unborn. However, it is the most effective and flexible mode of providing clear images of most parts of the infants’ body. The rays used in the diagnosis process risk the health of both the mother and child. They identify abdominal pregnancy, which leads to still birth or a disabled child. Therefore, for such a mother the caesarean section is the best alternative to deliver4. Additionally, the ultrasound detects deformities such as bowed femurs, ventriculomegaly, and a skull with a cloverleaf shape, narrow chest ossified spine and skull. This helps the doctor to help to deliver the child with an abnormal breathing system and prevent the occurrence of still-birth. Ultrasound scans the position of the unborn child and analyzes its condition before it is born. This reduces the death chances of death in many children. The ultrasound process is common in gynecology and obstetrics, where doctors refer to it as the best method of diagnosis. However, it requires skilled personnel to conduct it in an effective way to deliver children successfully. The use of X-rays is common where there is the analysis of the visual picture of internal structures. The flat plate is the leading method of radiograph that outlines different types of abnormalities of body organs5. It is the first diagnosis procedure administered to a patient suffering from skeletal disorders. However, there are many disadvantages linked to radiography; it introduces cancerous cells to the body. Further, it affects the normal growth of the growing embryo in the woman's womb. This increases the possibility of losing the unborn child which is a significant loss for the parents. The postnatal physical examination is substantial in the diagnosis process. This is where the specialists observe the patient after delivery up to another conception period. It aims at accessing the woman and child’s condition after delivery. In addition, it guides the woman through the recovery process and the importance of infant care and protection. The infant’s growth and development are closely monitored so as to identify deviations from the norm at an early age. The mother’s reversion process is observed to ensure that the enlarged bones resume their normal shape and structure. This highly avoids the risk of all skeletal disorders. This physical examination facilitates adequate breastfeeding of the child to strengthen the under developed bones6. As the infant grows, basic exercises administered on their limbs, ensure effective growth. In case of a notable deformity, there is immediate treatment. The obstetrician performs significant examinations on the infant after every six weeks. Obstetric history is vital in the detection of diseases and risks of the child’s health. For example, if the previous child suffered from a skeletal disorder then the possibility of the recurrence of such a condition is high. The identification of lochia is necessary during the physical examination as it gives essential signals toward the mother’s health and the safety of the unborn. The baby’s movement is keenly monitored and recorded for reference. Defects such as short limbs, skin folds, and narrow chests are identified7. In addition, histopathology is another method of administering the diagnosis. It examines the microscopic composition of a tissue in order to analyze the extent to which the disease has spread. Specimens from the patient are analyzed in the laboratory where they are viewed under a microscope8. Different chemicals are used in the fixation stage for tissue processing. After following the correct procedure, interpretation is done, and the doctor gives a report of the disease. In analyzing skeletal disorder, the doctor collects specimen from the bones to give a complete description of the disease. Further diagnostic histopathology offers a platform where both doctors and trainees review on new technology advancements. It assists in detecting columns of chondrocytes, abnormal growth in metaphases and extended vascularity. This method gives precise analysis of the disease enhancing the treatment process. In addition, molecular genetic testing helps in diagnosing different forms of skeletal disorders. Molecular genetics is a new phenomenon that examines a wide range of skeletal disorders. This procedure identifies genes that cause disease and creates a way to remove them from the infant’s body9. However, it is an expensive process that, and it requires a lot of time to accomplish the intended purpose of the study. Changes in the DNA are a prime focus for this diagnosis especially those that occur during the gestation period. There are different types of analysis; direct mutation, molecular cytogenetic and indirect analysis10. However, the publicity of the genetic information of families is a considerable threat and disadvantage. This is because most families prefer to maintain the secrets of their heritage. In addition, differential diagnosis helps in the identification of diseases with similar clinical observation. In this case, similar treatment is used for various patients and it is a fast method of treating skeletal disorders. Treating skeletal disorders is a complicated process and requires close monitoring of the patient. Clinical description has an advantage, in that it determines both types of TD. Statistics show that most patients die of respiratory related disorders where the lungs fail to develop fully. Breathing is a vital process for human survival thus lack of oxygen in their bodies accelerate the death rates. For infants born with this problem, incubation is necessary to boost their breathing rate. The type medication used should be in relation with the disorder identified by the doctor. The reduction of long bone structure is an effective process in solving limb deformities. Surveys indicate that cases of dwarfism are more than those of long bone structure11. Although few individuals survive from this disorder treatment, is vital to increase the chances of survival. Additionally, the medication process is expensive, but parents should ensure that children with such cases get their treatment at an early age. This is because as individual appreciates in age, the chances of getting cured are limited. Bibliography Keeling, Jean W., and T. Yee Khong. Fetal and Neonatal Pathology. Goldaming: Springer London, 2007. Rumack, Carol M., Stephanie R. Wilson, and J. William Charboneau. Diagnostic ultrasound. St. Louis: Elsevier Mosby, 2005. Callen, Eberhard. 2005. Ultrasound in obstetrics and gynecology. Stuttgart: Thieme. Mark Nissenbaum, Stanley M. K. Chung, Henrietta K. Rosenberg, and Billy E. Buck Clinical Pediatrics, August 1977; vol. 16, 8: pp. 690-697. Available at: http://cpj.sagepub.com/content/16/8/690.full.pdf+html Germaine, Defendi and Bruce Buehler.Thanatophoric Dysplasia. Available at: http://emedicine.medscape.com/article/949591-overview#showall Schade, Griffis. Thanatophoric Dysplasia: A Case Study. Available at: http://jdm.sagepub.com/content/10/1/24 Thanatophoric Dysplasia - Facts and Information. Available at: http://www.disabled-world.com/disability/types/thanatophoric-dysplasia.php Elio Liboi1 and Lievens, Patricia. Thanatophoric dysplasia. Available at: http://www.orpha.net/data/patho/GB/uk-Thanatophoric-dysplasia.pdf Read More