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A brief description of the mechanisms, types and assessment of chromosomal analyses. Techniques such as standard cytogenetic testing, FISH and array methods are discussed. Indications for testing in prenatal, neonatal and adult periods are also discussed. Deletions, translocations, inversions etc are described, as are mosaicism and aneuploidy.
Homan’s sign test also called dorsiflexon sign test is a physical examination procedure that is used to test for Deep Vein Thrombosis (DVT). A positive Homan’s sign in the presence of other clinical signs may be a quick indicator of DVT. Clinical evaluation alone cannot be relied on for patient management, but when carefully performed, it remains useful in determining the need for additional testing (like D-dimer test, ultrasonography, multidetector helical computed axial tomography (CT), and pulmonary angiography) [1][2].
Phlebitis may occur with or without a blood clot. It can affect surface or deep veins. When caused by a blood clot, it's called thrombophlebitis. Trauma to the vein, for instance from an IV catheter, is a possible cause. Symptoms include redness, warmth, and pain in the affected area. Treatments may include a warm compress, anti-inflammatory medication, compression stockings, and blood thinners.
Pediatric orthopedic surgeons at Columbia are using a new device with magnetic technology that avoids the need for multiple spine-lengthening surgeries to correct early-onset scoliosis, a severe curvature of the spine in young children. In April 2014, Michael Vitale, MD, the Ana Lucia Professor of Pediatric Orthopedic Surgery at CUMC and 1995 graduate of P&S, performed the first procedure in the New York area, using the device to treat a 5-year-old boy. When braces and casts cannot control scoliosis in young children, surgeons turn to growing rods, which help correct the curve while allowing the spine to grow. When spinal maturity is near, the rods are removed and a spinal fusion can be performed. But during years of treatment with growing rods, patients must undergo surgery every six months to lengthen the rods to keep up with the patients’ growth. A patient may undergo eight to 10 procedures, which are costly and result in lost time for parents at work and children at school. The new device—MAGEC (MAGnetic Expansion Control) rods—contains a mechanism inside the growing rods that allows surgeons to lengthen the rods with a handheld external magnet, without surgery.
Portal hypertension is an increase in the blood pressure within a system of veins called the portal venous system. ... If the vessels in the liver are blocked due to liver damage, blood cannot flow properly through the liver. As a result, high pressure in the portal system develops
Systemic lupus erythematous is an autoimmune condition characterised by damage to organ systems due to autoantibodies and immune complex deposition. Genes, epigenetic changes and environment play a role in its pathogenesis. SLE is a truly multi system disease causing widespread clinical manifestations in almost all organ systems. Autoantibodies in SLE are numerous and mainly include ANA, dsDNA, Sm and others.
Intrauterine insemination (IUI) is a fertility treatment that involves placing sperm inside a woman's uterus to facilitate fertilization. The goal of IUI is to increase the number of sperm that reach the fallopian tubes and subsequently increase the chance of fertilization
Hemophagocytic lymphohistiocytosis is a rare but life threatening condition characterised by activation of macrophages which result in phagocytosis of RBCs and cytokine mediated tissue damage. This presentation aims to discuss the genetic basis, clinical features, diagnostic criteria and management options in this serious condition. The management options in HLH include Etoposide, Dexamethasone, Cyclosorine, Tacrolimus, Alemtuzumab and stem cell transplant.