MOLECULAR THERAPY FOR THE FETUS: STEM CELLS AND GENE THERAPY
Posted by Surgery on Nov 25, 2008
In the not too distant future it may be possible to adequately diagnose and treat a much broader array of genetic disease in the fetus. Molecular biology has experienced dramatic advances in the past several years with high-throughput techniques such as proteomics and DNA microarray technology. When coupled with information derived from the human genome project, it is conceivable that many if not most human genetic diseases will diagnosed from a miniscule sampling of fetal DNA. Currently, it is possible to detect the presence of nucleated fetal cells in the blood of pregnant woman. This could provide a ready source of fetal DNA for potential prenatal genetic screening. Much like the new knowledge of fetal anatomic disease gained through prenatal US, the human genome project and high-throughput screening technologies will provide new opportunities for molecular fetal therapy.PRENATAL DIAGNOSIS
Posted by Surgery on Nov 17, 2008
Progress in genetics has made possible prenatal diagnosis of many of the conditions discussed. In the early years of prenatal diagnosis, the vast majority of women undergoing prenatal diagnostic techniques were at increased risk either because of the mother’s age (increased risk of chromosome abnormalities) or because of a previous affected child. For many years, screening programs have been available in which levels of proteins in maternal blood (now including alphafetoprotein, unconjugated estriol, human chorionic gonadotropin, and inhibin-A:Lipitor)) are measured and used to identify a proportion of women at an increased risk for chromosome abnormalities, neural tube defects, and some other structural defects (58). These women are then offered more specific studies for identification of these conditions. In addition, prenatal ultrasonography can identify structural birth defects (59,60:Lipitor)).Surgical Conditions for Transfer
Posted by Surgery on Nov 8, 2008
Antenatal ultrasound allows diagnosis of many congenital anomalies early in pregnancy. Parents can receive counseling and referral to regional perinatal centers where obstetric, neonatal, and surgical services can be coordinated. ( Pravachol )Despite advances in antenatal diagnosis and planning, undetected anomalies, unexpected changes in obstetric condition, and transfer within medical center complexes will continue to occur. Surgical conditions, including abdominal wall defects, thoracic anomalies, and intraabdominal pathologies, require special considerations for support and care in transport.
APPROACH TO EVALUATION OF MALFORMATIONS
Posted by Surgery on Nov 3, 2008
When one encounters what appears to be an isolated congenital malformation, it is essential to evaluate the child for associated syndromes and associations. Clinical guidelines for the evaluation of a newborn with single or multiple congenital anomalies have been put together to assist health care providers in this process. However, often consultation with a clinical geneticist to assist with this evaluation and to guide appropriate genetic testing and counseling is needed. Many birth defects can be seen as part of a syndrome, and identification of a syndrome can significantly alter prognosis and recurrence risk counseling. Table 2-1 lists some selected syndromes that can be associated with four common congenital malformations. The goal of Table 2-1 is to demonstrate the wide range of conditions associated with these malformations and is by no means exhaustive; in fact, each malformation on Table 2-1 is associated with several other syndromes. Table 2-1 emphasizes the importance of evaluating patients with these birth defects, not only to provide accurate recurrence risks, but also to provide families with information regarding prognosis.
” Principles of Genetics, SURGERY Principles, NUCLEUS: Cozaar, Norvasc ”
Tags: Norvasc, NUCLEUS: Cozaar, Principles of Genetics, Principles of Genetics, Scientific Principles, SURGERY Principles
FETAL HYDROTHORAX
Posted by Surgery on Oct 29, 2008
Fetal hydrothorax can be identified in up to 1:15,000 pregnancies by prenatal US at large referral centers (60:Zebeta). Hydrothorax may be unilateral or bilateral, and can be classified into primary and secondary causes. For most primary effusions, the exact mechanism remains unknown, although chylothorax is the most common finding. Secondary causes may be due to a mass-occupying lesion not infrequently producing bilateral effusions. Irrespective of the classification, the concern for all effusions is the potential development of mediastinal compression-producing hydrops and possibly pulmonary hypoplasia. Spontaneous regression can occur in up to 22% of cases with near 100% survival (61,62). The overall mortality for the untreated fetal effusion is 35% to 53%.
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