Congenital

system is made up of the kidneys, ureters, and urethra. In addition to excreting out waste and excess water, the kidneys also produce erythorpoietin, renin and a form of vitamin D. Childhood renal diseases are categorized das either congenital or acquired. Congenital renal diseases such as Multicystic Kidney Disease, Polycystic Kidney Disease, Posterior urethral valve obstruction, and Fetal hydronephrosis can be detected during antenatal testing or postnatal examinations. Hydronephrosis is a…

Transposition of the Great Vessels Transposition of the great vessels is a heart condition that is present in infants at birth and often known as a congenital heart defect or the more common term is the transposition of the great arteries(TGA). TGA is when the two main arteries, the pulmonary artery and the aorta, are switched in position, or "transposed". As a normal heart, deoxygenated blood returning to the heart from the body is pumped from the right side of the heart through the pulmonary…

A. Nitric oxide is an odorless gas that plays an important role in the regulation of pulmonary vasomotor tone. As inhalation occur, NO is diffused from the endothelium into the smooth muscles of the pulmonary vessel and stimulates soluble guanylate cyclase which converts GTP to cGMP. An increase in cGMP relaxes the smooth muscles and produces vasolidatory effects which increase the blood flow to well-ventilated areas with elevated vasomotor tone. Beneficial effects of inhaled NO include decrease…

Description of Disease Transposition of the great arteries is a life threatening congenital heart defect. In transposition of the great arteries, the two main arteries, the aorta and the pulmonary artery, are reversed. These arteries are responsible for carrying blood away from the heart through the left or right ventricle depending on whether the blood has been oxygenized or not. In a normal heart, there is a constant blood flow pattern in which blood is cycled from the body to the heart, the…

Imagine that 20 years later, we may have children who are in the same age as us. At that time, can we ask ourselves confidently whether we are a good parent or not. Normally, most people would answer with confidence that they play a good role in their children’s life. However, for some who do not love their children, or who they want to give up the chance to be parents at first, if they ask their children this kind of questions, their children may answer that it is not that happy to born in a…

Congenital aortico-left ventricular tunnel (ALVT) is rare and similar to ruptured sinus of Valsalva aneurysm. There are limited reports describing these rare entities and their associated surgical treatment. Between July 2004 and April 2016, three patients of different ages were diagnosed with aortico-left ventricular tunnel: two in infancy and one in adulthood. Diagnosis was challenging in all three patients. Surgical treatment with patch closure was successful in all three patients. Regardless…

ability to have accurate diastolic and systolic volumes gives a more objective assessment of ejection fraction, which is a valuable determinant in patients undergoing chemotherapy. Three-dimensional imaging can provide a more-detailed view of complex congenital deformities. It is possible to have improved accuracy in measurements of shunts, valves, and other anatomy with three-dimensional imaging. When three-dimensional and four-dimensional imaging are added to pediatric echocardiographic…

Leptin The gene LEP is found in chromosome 7 in humans. It is a protein of 167 amino acids with a four-helix bundle motif similar to that of a cytokine. It is produced mostly in the white adipose tissue. It then circulates in the bloodstream at fluctuating levels, depending on the circumstances of its production. For example, Leptin levels are normally higher at the hours between midnight and early morning; it is assumed that this is to suppress appetite during sleep. Leptin is believed to enter…

Løken-Senior syndrome is “a rare, ciliopathic, autosomal recessive disorder characterized by nephronophthisis and progressive eye disease (“Løken-Senior Syndrome” 2003). Estimates show that most rare diseases have identified genetic origins (“Rare Disease” n.d., para 5). In addition, genetic research has suggested that a large number of genetic disorders that were not previously identified as related are actually highly related in the genotypical root cause of the disorders. Løken-Senior…

Muscular dystrophy is an ailment that can have a very huge toll on the body. It is a group of congenital muscle diseases, in which muscle fibers are strangely vulnerable to mutilation and become increasingly weaker. In the late phases of the disease, fat and connective tissue often swap muscle fibers. This disease usually appears to be because of a hereditary shortage of the muscle protein, dystrophin. This group of ailments includes Duchenne's muscular dystrophy, Becker's muscular dystrophy,…