and Treatment of Heart Congenital Anomalies in Australia and Kenya The World Health Organisation (WHO) (2018) explains congenital anomalies as ‘..structural or functional anomalies that occur during intrauterine life and can be identified prenatally, at birth or later in life.’ It is estimated that 303,000 babies die within four weeks of their birth annually due to congenital malformations, some of which can be prevented (WHO 2015). There are various causes of heart congenital anomalies, with majority
The aim of this essay is to critically analyse a clinical incident involving an adult with Congenital Heart Disease (CHD). I will define reflection, then select a reflective model and critically reflect on the incident demonstrating my new found knowledge. Lastly, I will suggest how nursing practice should change to improve the care of this group of patients. Reflection is a key element of the human learning process. It can be used to justify aspects of practice and legitimise the knowledge gained
Congenital Insensitivity to Anhidrosis (or CIPA) is a rare genetic disease with the characteristics of not being able to feel any pain or temperature, and little or no sweating. It is inherited by an autosomal recessive pattern, meaning that both parents have a mutated NTRK1 gene, but they do not show any symptoms of CIPA. The damaged NTRK1gene produces proteins that cannot transmit signals. Since the neurons do not get any signals from the proteins, they perform apoptosis. Apoptosis is a process
eye and discomfort to the joints can easily be noticed and fixed because of nerves. For a very small percentage of the population though this is not the case. Congenital Insensitivity to Pain with Anhidrosis (CIPA) is a rare disease that causes the infected to have no reaction to pain and in most cases, lose sense of smell as well. Congenital Analgesia is a rare condition that prevents people from experiencing senses due to a mutation on the NTRK1 gene is located on the long (q) arm of chromosome
The article; “Sign Language, Speech, and Communication Repair Abilities by Children with Congenital Deafblindness” displays how individuals with a disability learn to communicate with the world around them. Communication
Congenital hearing loss is described as hearing loss that exists at birth. Factors responsible for this condition include those present during pregnancy (such as hereditary factors), as well as factors present after pregnancy. An inherited congenital hearing loss could be conductive, sensorineural, or even a combination of both. The amount or progression of this type of hearing loss varies according to each individual’s case. According to Richard Smith, congenital hearing loss is “syndromic (associated
Introduction to congenital anomalies Congenital- relating to a condition that is present at birth, as a result of either heredity or environmental influences: Anomalies- something that deviates from what is standard, normal, or expected. Congenital anomalies are also known as birth defects, congenital disorders or congenital malformations. Congenital anomalies can be defined as structural or functional anomalies (e.g. metabolic disorders) that occur during intrauterine life and can be identified
Effects of Alcohol and Fetuses When it comes to pregnancy, expectant mothers usually have a lot of questions and concerns. One such concern is alcohol consumption. Some people feel that it is okay while others are against the consumption. However those who drink take a huge risk that can result in what is referred to as Fetal Alcohol Spectrum Disorders (FASD). This umbrella term is used to describe the range of damage from alcohol exposure to a fetus. The characteristics, diagnosis, and the mother
After reading your paper I had to look up Congenital Insensitivity to Pain disorder and learn more about it. For someone to have this disorder, they have to have mutiated gene and is a genitic disorder. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition
women, having osteoporosis may break a hip during a fall and possibly die from complications. Birth Defects Congenital bone diseases constitute a wide spectrum, ranging from the unimportant--for instance, mild bow legs--to severe lesions, such as spina bifida, in which the lower end of the spine fails to develop properly and the baby is born with paralysis and misshapen vertebrae. Congenital diseases may have hormonal bases: for example, fibrous DYSPLASIA, in which fibrous tissue replaces that of
Cardiovascular system Congenital Heart Disease Congenital heart disease is a defect in one or more structures of the heart or blood vessels that occurs prior to birth. Defects can be severe at birth and require immediate attention, while others are mild that will heal on its own, and some go unnoticed until a person is older. It affects 1 out of every 100 children at birth (WebMD, American Heart Association). Heart valve defects include narrowing of the valves or complete closure that stops forward
localized, Hypertrichosis is also separated into congenital or acquired classifications. Congenital means that this disorder was present at birth and may have been caused by mutations in the genes. While acquired means that it became present over time. The cause for congenital is typically genetics while the cause for acquired is influence by medical conditions such as metabolic disorders, cancer or even oral and topical drug treatments. Congenital Hypertrichosis Lanuginosa is thought to be caused
According to the Encyclopædia Britannica (2014), a neural tube defect is “any congenital defect of the brain and spinal cord as a result of abnormal development of the neural tube.” This birth defect is “the most common congenital defect of the central nervous system, affecting the brain and/or spinal cord of 300,000 newborns worldwide each year” (Ricks et al., 2012, p. 391). The exact cause of these central nervous system defects is unknown, but there are many contributing factors that are evidenced
Congenital Lobar Emphysema II. Congenital Lobar Emphysema also known as Congenital Lobar Over-inflation (CLO) and Infantile Lobar Emphysema is a rare congenital respiratory anomaly related to the hyperinflation of one or more of the pulmonary lobes. It is a condition in which the neonate or infant can accumulate more air into the lung than what can be utilized. This condition results in air trapping, and air leakage out into the pleural space and in most cases resulting in respiratory distress.
What is Congenital Adrenal Hyperplasia? 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. There are 2 types of CAH; classical and non-classical CAH. Classical CAH is the severe form of which there are 2 subtypes, salt-wasting
Introduction A cerebral arteriovenous malformation (AVM) is an irregular connection of arteries and veins within the brain that has no definite cause; many do not experience symptoms (Mayo Clinic Staff, 2011). However, some patients experience headaches and seizures (Starke et al., 2009). The main risk of an AVM is hemorrhage, and patients with AVMs will always have some risk of hemorrhage (Ogilvy et al., 2001); According to Ogilvy et al (2001), more than 50% of AVMs lead to cerebral hemorrhage
Cited “A Case of Poland Syndrome Associated with Dextroposition.” Italian Journal of Pediatrics. 20 February 2010: 21 – 36. Web. D. Bahubali; Gane; P. Femith; Rojo Joy; V. Prasad; B. Adhisivam; Vishnu Bhat. “Poland syndrome with dextrocardia and congenital heart disease: A case report.” Curr Pediatr Res. 17 Ed. 2013: 17. JIPMER, Pondicherry. Eric D. Green. The Genomics Landscape. January 7, 2014. National Human Genome Research Institute. Web. 3 December 2013. Genetics Home Reference. March 2013/ 27
Congenital Lobar Emphysema II. Congenital Lobar Emphysema also known as Congenital Lobar Over-inflation (CLO) and Infantile Lobar Emphysema is a rare congenital respiratory anomaly considered by hyperinflation of one or more of the pulmonary lobes. A condition in which the neonate or infantile can get more air into the lung, than what can get rid of it, resulting in air trapping, and air to leak out into the pleura space; following in most of the cases with respiratory distress, a lobar over distended
As a pediatrician and urologist specifically concentrating on disorders of sexual development (DSD)- “congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical” (Arnold/Saguy, Lecture 11)- every once in a while, a pregnant woman, whose first child is born with congenital androgen hyperplasia (CAH), comes to my office asking for a medicinal point of view on the biological, psychological, and ethical methods of treatment of her second child. Since recent
An Overview of the Rare Disease Known as Kabuki Syndrome As I look to graduate, I become increasingly aware that I have my entire life to look forward to. Even though I will have struggles throughout my life, I still have my well being to fall back on. When all else fails, I am and hopefully always will be self-assured that I am here, healthy and able to bring myself through the worst of circumstances. This realization and knowledge has presented itself in the most realistic way just within