Sunday, February 16, 2020

Congenital Hypothyroidism Essay Example | Topics and Well Written Essays - 1000 words

Congenital Hypothyroidism - Essay Example Those causing the latter are the thyroid peroxidase and thyroglobulin genes. These genes were initially described, but, most recently PDS (Pendred syndrome), NIS (sodium iodide symporter), and THOX2 (thyroid oxidase 2) gene defects were also published. Figure2: Cartoon of the TSH receptor showing the positions of all the loss of function mutations reported to date. Missense mutations are shown in the circles, frameshift and deletion mutations are indicated by arrows, and splice site mutations aremarked. Chatterjee) Figure 3: A proposed algorithm for investigating the genetic basis of congenital hypothyroidism. AHO, Albright hereditary osteodystrophy; CH, congenital hypothyroidism; GNAS, stimulatory G protein a subunit gene; NIS, sodium-iodide symporter gene; PAX-8, human Pax-8 gene; PDS, Pendred syndrome gene; TFTs, thyroid function tests; TG, thyroglobulin gene; THOX2, thyroid oxidase 2; TIOD, total iodide organification defect; TITF-1, human TTF-1 gene; TITF-2, human TTF-2 gene; TPO, thyroid peroxidase gene; TSHR, TSH receptor gene; USS, ultrasound scan. (Chatterjee) Figure 4: The Hypothalamic -pituitary thyroid axis and known genetic defects associated with CHT. (Vono-Toniolo and Kopp) Figure5.Mitogenic pathways in the thyroid. Data from the thyroid cell systems are integrated into the present general scheme of cell proliferation cascades. (CONTROL OF GROWTH AND DIFFERENTIATION ) Figure 6: Overview of gene therapeutic approaches for thyroid cancer (Spitzweg and Morris) Table: 1 Phenotypes of TR knockout animals. (Brent) Bibliography Brent, Jung-Hsin Hsu and Gregory A. "Thyroid Hormone Receptor Gene Knockouts ." Trends in Endocrinology and Metabolism (1998): 103-111. Chatterjee, Park SM and VKK. "Genetcis of Congenital hypothyroidism." J.. Med Genetics (2005): 379-389. "CONTROL OF GROWTH AND DIFFERENTIATION ." Thyroid Manager. 06 04 2008 . Spitzweg, Christine and John C. Morris. "Gene Therapy for Thyroid Cancer: Current Status and Future Prospects." Thyroid (204): 434-434. Vono-Toniolo, Jussara and Peter Kopp. "Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyr

Sunday, February 2, 2020

Central Venous Cather technique in small children Research Paper

Central Venous Cather technique in small children - Research Paper Example In our retrospective cohort paper we theorize a systematic approach aimed at identifying the most suitable vein performing a pre procedural scan of all the possible site for vein cannulation and thereafter choosing the most appropriate in term of size and other factors such as collapsibility during respiratory cycle or anatomical anomalies. This systematic approach allowed identifying the brachiocephalic vein as the more suitable for central line placement, and along with in plane approach we were able to be successful in 100% of cases without complication. As published by The Great Ormond Street Hospital for Children’s publications in 2007, the central venous catheter is usually inserted into a neck vein to gain access to the right atrium. It is required to gain an ease of access for taking regular blood samples, for administration of medicines in patients undergoing chemotherapy or for giving total parenteral nutrition. It may also be required for administration of anesthetics, peri operative management or long term management of chronic illness. It is also indicated for measurement of central venous pressure. The success of this procedure depends upon a number of factors including the general condition of the child as described by Grebenik (Grebenik 2004). These include an experienced hand performing the procedure, the site of insertion of cannula, the presence of vascular anomaly, clotting problems or any previous cannulation procedure performed in the past. Because of these all factors, an ultrasound guided technique of central venous catheterization is rapidly becoming a preferable procedure for a central line placement in infants, neonates and children. Ultrasound guided technique has an advantage over the blind procedure for gaining the safest venous access and ensuring a flawless approach. There are certain risk factors associated with this procedure like the risk of infection or thrombosis, which may lead to various complications