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
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 are all important factors to look at when trying to understand these birth defects. FASD is not a clinical diagnosis, as stated before; it is an umbrella term for the range of disorders that are a result from alcohol exposure in the womb. The different disorders are Fetal Alcohol Syndrome (FAS), and Alcohol-related
Bone diseases most directly influence the ability to walk or to move any part of the body--hands, limbs, neck, and spine. They are related to joint disorders--ARTHRITIS, COLLAGEN DISEASE, DISLOCATION of joints, and RHEUMATISM. The medical specialty pertaining to bone disorders is ORTHOPEDICS. Fractures are the most common bone disorders. They can occur as the result of an accident or be secondary to metabolic diseases. Fractures are life-threatening to aged people having the metabolic bone disease
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
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 to assist in the prevention of such a disorder. I will examine
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
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
diseases. Over time, tests were added for endocrine disorders and now newborn screening program include more than 50 individual conditions. Newborn screening is a system that consists of 5 parts in which the pediatrician holds a vital role. Part 1: Testing of Newborn Infants Both the obstetrician and the pediatrician have a responsibility in educating parents regarding the availability of newborn screening tests, the advantages of early detection of disorders, the risks of not receiving the screening, the
called nucleotides. While chromosome 21 can also be called "trisomy 21", Down syndrome gets its name from John Langdon Down and English doctor who compared and categorized the characteristics of Down syndrome in relations to someone without the disorder. Nowadays, a mother can choose from 2 different tests that are designed to determine whether or not the fetus has Down syndrome. A screening test can inform the doctor and mother what odds the baby has of being diagnosed with Down syndrome. During
The rate of heart disease seems to be on a constant incline in the America. As more of our population begins to indulge in the goodies our first world society has to offer, the rise of heart defects at an even younger age is emerging. According to the CDC about one third of the United States children are either overweight or obese. This interest in obesity as a social issue is what inspired me to pursue a career in pediatric cardiology. The way my personality type is wired seems to be indicative
in 1983 to 60 today. People with down syndrome have an increased risk for certain medical conditions such as heart disease,brain atrophy and learning disorders.(downs-syndrome association) Down's syndrome is not a disease and therefore people with Down syndrome do not suffer nor are they victims of their condition.Down Syndrome is a natural disorder coming from a chromosome defect. It is a genetic condition in which a person has 47 chromosomes instead of the usual 46. Which causes mental impairment
“Ebstein’s anomaly is a rare cardiac anomaly that occurs in approximately one in 20,000 live births and accounts for less than 1% of all congenital heart disease (Ebstein’s anomaly in adults)”. The goal of this paper is to examine Ebstein’s Anomaly - to understand what it is, how it affects the heart, possible presenting symptoms, and other possible complications associated with this anomaly. Diagnosis of this anomaly is key in treating patients, thus echocardiographic as well as other test modalities
influence the differences between girls and boys. Gonadal hormones highly influence the development of sex differences in terms of behavior and in the brain at different species of animals. There is a unique case where females with genetic disorder congenital adrenal hyperplasia (CAH) –highly exposed to adrenal androgens before birth –shows a more manly behavior and physical energy with higher spatial ability than normal females. Other findings also show similar results caused by masculine hormones
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
EKG Class When expecting a baby, parents hope their child is born with ten tiny toes, ten little fingers, the perfect little button nose, and a smile made out of gold. Most may not think about the vital development and intricacies of their baby's heart. Once the baby is born, parent’s uncertainties may be laid to rest as technology has provided the world with multiple means of being able to detect the most miniscule of abnormalities. One of which includes the electrocardiogram as this device is
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
skills that most adults learn over time, they need more help and people to work with them. (KidsHealth) To truly help and understand someone with Down syndrome one has to have patience, compassion, and knowledge about the condition. Having this disorder does not hold them back from anything, they can do anything they put their mind too. Yet there are some things and programs to help them along the way, like physical therapy, speech therapy, and a more in depth education. Physical therapy is a more
the first time that the link between a large congenital cardiac shunt defect and the development of pulmonary hypertension had ever been noted (El-Chami et al., 2014b). The normal heart has four chambers. The two upper chambers are separated from each other by the atrial septum (NORD, 2014a). The two lower chambers are known as ventricles and are separated from each other by the ventricular septum (NORD, 2014b). Eisenmenger Syndrome is a congenital heart defect that is