Congenital disorder

Congenital adrenal hyperplasia (CAH) describes several autosomal recessive diseases which are caused by the mutation of genes for enzymes which mediate the biochemical steps of sex steroids, mineralocorticoids or glucocorticoids production by adrenal glands. The most common type (95% of cases) involves gene for 21-hydroxylase found on chromosome 6p21 as part of the HLA complex. The severity of CAH depends on the degree of 21- hydroxylase deficiency. There are 3 main phenotypes of 21- hydroxylase

Syndrome, CCDC, ZIC3, NODAL, CFC1, CRELD1, FOXH1, SESN1, LEFTY1, ACVR2B, GDF1, NKX2.5, DNAH5, DNAI1 Radiography, Computed Tomography, Ultrasonography, Electrocardiograph ABSTRACT/SUMMARY In this article review, it is discussed and revised that the congenital condition called Situs Inversus Totalis (SIT) with dextrocardia, which can have a wide array of signs and symptoms, physiology and clinical characteristics, variation in genetic mutations, therapy and managements, possible complications, as well

Need Volunteering can make a real difference. There are many major illnesses affecting rainbow children such as blood disorders, congenital heart disease, bone marrow failure and chronic asthma. These chronic illnesses have impaired their physical, social, and mental health to a great extent. The children have to persevere each and every day to cope with their illnesses and its

INTRODUCTION Congenital Adrenal Hyperplasia (CAH) refers to a complex series of rare but well-studied enzymatic errors of metabolism with deficient levels of different enzymes involved in the synthesis of cortisol (hydrocortisone). CAH comprises a group of disorders resulting from defective synthesis of adrenal corticosteroids. Lack of glucocorticoids, especially cortisol, causes various kinds of metabolic problems. The response to low levels of cortisol is increased production of corticotropin

Critical Congenital Heart Defects are abnormalities of the heart structure that are present at birth. These occur because of incomplete or abnormal development of the fetus’ heart. These defects can cause severe mortality within the newborn stage (Goldstein, 2013, p.1). Several are known to be linked to genetic disorders such as Down syndrome and others are thought to be linked to environmental factors that women can be exposed to while pregnant. The cause of most CCHD’s is unknown. Symptoms

divides the upper chamber into a left and right atrium... an abnormal formation of this wall can result in a defect that remains after birth. This is called an atrial septal defect, or ASD (Medline Plus, 2016). Atrial Septal Defect or ASD is a kind of congenital heart disease that already exists since birth; and this disease is malfunctioning because there is a hole between the upper parts of the heart- the one that is responsible in distributing the blood throughout the body and the one for transmitting

metallic examination table of her doctor’s office, feet crisscrossed and tightly held together. Her doctor walks into the room, head heavy, and breaks the news; prenatally screening has shown that the mother’s future bundle of joy has a genetic disorder, congenital adrenal hyperplasia, CAH. The mother in bewilderment asks what the course of treatment would look like and what exactly CAH is, she seeks a plan, a way to ensure the health of the child. The doctor lays out what CAH is and the implications

blood. The opening may be small, as when the foramen ovale fails to close, or large, as when the septum may be completely absent. 2. What is the incidence and etiology of this congenital heart defect? Congenital defects of the atrial septum are common, accounting for approximately 13 percent of congenital heart disorders, with a reported birth prevalence of approximately 2 per 1000 live births. Every child is born with an opening between the upper heart chambers. It's a normal fetal opening that

looks is normal for every teenager, but they learn to adapt to their bodies as they are going through a change. Many teenagers might face peer pressure to use alcohol, smoking, drugs and to have sex. Other challenges which may occur can be eating disorders,

Student Nurse: Joshua Goodwin Patient Demographics Patient Name: C, H Description of Disorder/Disease: The patient is a 1 month and 14 days old male who is diagnosisd with a congenital heart defect known as Tetralogy of Fallot. Tetralogy of Fallot consist of 4 defects: Ventricular septal defect (VSD), Overriding aorta, Pulmonary stenosis, and Right ventricular hypertrophy. This defect can result in decreased oxygen in the systemic circulation. Potential Complications: May not grow and develop properly