Neonatal Adrenoleukodystrophy also known as (NALD) is an inborn error of peroxisome biogenesis. It is part of the Zellweger spectrum. ( Wikipedia, June 24, 2102). It has been linked with multiple genes (at least five) associated with peroxisome biogenesis, and has an autosomal recessive pattern of inheritance. (Wikipedia, June 12, 2012).
Pathophysiology
(NALD) is an inheritable disorder that affects the adrenal glands, the white matter of the brain and the testes.(“ Adrenoleukodystrophy: Overview, Causes,” August 1, 2007) It is passed down from parents to their children as an X-linked genetic trait. (“A.D.A.M.,” 1997) It therefore affects mostly males, although some women who are carriers can have milder forms of the disease. It affects approximately 1 in 20,000 people from all races. (“Scripps Health,” Jan. 12, 2011). The condition results in the buildup of very-long-chain fatty acids in the nervous system, adrenal gland, and testes, which disrupts normal activity. (Penn Medicine, n.d.)
Symptoms and Diagnosis
Some of the symptoms of the disease include: Ch...
Shannon, J. B. (2007). Endocrine and metabolic disorders sourcebook: Basic consumer health information about hormonal and matabolic disorders that affect the body's growth, development, and functioning, including disorders of the pancreas, ovaries and testes ... (2nd ed.). Detroit,, MI: Omnigraphics.
Tumors or Lesions to the Hypothalamus Patient The Hypothalamus is a small area near the base of the brain just ventral to the thalamus. It has widespread connections with the rest of the forebrain and the midbrain. Partly through nerves and partly through hypothalamic hormones, the hypothalamus conveys messages to the pituitary gland, altering its release of hormones (Kalat, 2003). Any type of damage to a hypothalamic nucleus, such as tumors or lesions, may lead to abnormalities in one or more motivated behaviors, such as feeding, drinking, temperature regulation, sexual behavior, fighting, or activity level.
Picture yourself with a brand new child, Holding it in your arms, comforting it, and putting it back to rest in its crib. Then you go about your day at home when all of a sudden the baby starts to cry very loud and doesn't stop. You start getting frustrated so you walk to where the baby is at and start to shake it so it will be quiet. After about ten seconds it calms down, and then falls asleep again. The baby doesn't cry again for a long time so you go back to check on it about two hours later. You notice the baby isn't moving, breathing, or showing any signs of life. What you don't know is that you just committed a murder called Shaken Baby Syndrome. Another term that is close to Shaken Baby Syndrome that I will be discussing in my paper is Abusive Head Trauma.
Introduction: Laura Copeland is a twenty four year old Peace Corp representative in Ethiopia. During her work, her health seemed to be “off” (Magic Foundation 2014). Some of the odd health effects were extreme weight gain, deep purple stretch marks, slow wound healing, hair loss, “severely depressed with suicidal ideation”, and a ceased menstrual cycle. Her manager and the other people involved with her care became severely concerned. She was flown out to Washington D.C. to get a medical evaluation, and was placed on suicide watch in the mental ward.
Congenital Adrenal Hyperplasia (CAH) is an inherited condition that affects hormone production in the adrenal gland. The individual lacks enzymes to make cortisol, and hormones are instead are shifted away to make other hormones, specifically androgens. This results in the deficiency of cortisol and the abundance of testosterone.
However, in a person with PWS, the 15th chromosome has been given 2 genes from the mother, and none from the father. This is called maternal UPD ( uni-parent disomy) in which 2 copies of the maternal chromosome are inherited with no paternal contribution. Despite the presence of 2 intact chromosomes, there is a functional abnormality in the imprinting that may lead to the absence of gene expression from the paternally donated chromosome, resulting in the PWS phenotype (physical trait) that is common in persons with PWS.
Waardenburg Syndrome is a rare genetic disorder meaning that is caused by a mutation of genes. The disorder is classified as type I, II, III, or IV based on inheritance pattern and symptoms (Genetics 2013). Waardenburg Syndrome is an incurable disorder that is inherited from either one or both parents. If it came from one parent, it is an autosomal dominant pattern and if it came from both, it is known as an autosomal recessive pattern (Calendar 2013). Hearing loss, abnormalities with pigmentation of hair, eyes, and skin and other minor defects are some symptoms of Waardenburg Syndrome. There are many ways to diagnose the disorder and many treatments of the symptoms of it as well.
Peterson-Iyer, Karen. "Confronting a Fetal Abnormality." http://www.scu.edu. Santa Clara University, Jan. 2008. Web. 13 Mar. 2014. .
This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...
Neonatal Abstinence Syndrome (NAS) is a group of problems a newborn experiences when exposed to addictive drugs that the mother consumes during pregnancy. NAS is a growing concern in the United States and can have significant adverse effects on newborns. Shortly after birth the infant can display many physical symptoms of withdrawal. In addition, substance abuse during pregnancy can cause premature birth, low birth weight, seizures, birth defects, Sudden Infant Death Syndrome (SIDS), and possible long-term cognitive and behavioral problems.
Sex-linked disorders only affect males and are passed down through female carriers. A boy inherits the disorder when he receives an X chromosome with a mutated dystrophin gene (the genetic cause) from his mother. The dystrophin gene is the largest gene found in nature and was identified through a positional cloning approach. It's a highly complex gene, a large rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. www.ncbi.nlm.nih.gov - http://www.ncbi.nlm.nih.gov/.
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
...d to have it, and experts estimate that the disorder also affects as many as 4 percent of the college age women.
The environment can influence a lot during prenatal development. Broderick & Blewitt (2010) state “genes can do nothing without environmental input—and that environmental effects are shaped by genetic constraints” (p. 34). Teratogens and disease can cause birth defects during prenatal development. Pregnant mothers should avoid things like drugs, radiation, and stay away from people or places that could be infested with viruses. These can result in a defect in th...