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Supporting the Student With Down Syndrome in Your Classroom Information for Teachers
Supporting the Student With Down Syndrome in Your Classroom Information for Teachers

... Although information about Down syndrome is increasingly more accurate, there are still a few misconceptions that the general public may have about this condition. Myth: Down syndrome is a rare genetic disorder. Truth: Down syndrome is the most commonly occurring genetic condition. One in every 691 ...
Aortic Stenosis Fact Sheet
Aortic Stenosis Fact Sheet

... recommended for virtually all adult aortic stenosis patients who do not have other serious medical conditions. For patients who have been deemed inoperable or high risk for traditional open-chest surgery, a procedure called transcatheter aortic valve replacement (TAVR) is available as a treatment op ...
Down SYnDrome
Down SYnDrome

... • Most cases of Patau syndrome are sporadic, and not inherited, including mosaicism. • Patau syndrome caused by a translocation can be inherited. A carrier can have a rearrangement of genetic material between chr 13 and another chromosome. This is called a balanced translocation, because there is no ...
Conditions of the Aorta and it`s branches
Conditions of the Aorta and it`s branches

... • serial follow up, younger patients, no radiation • gadolinium contrast likely less nephrotoxic (limited use with low GFR) • Bad for: • acute setting • less widely available, can’t monitor unstable patients, long acquisition times ...
Cogan`s syndrome
Cogan`s syndrome

... Typical Cogan's syndrome is defined by non-syphilitic interstitial keratitis associated with audiovestibular involvement similar to that of Ménière's disease with progressive hearing loss to complete deafness within 2 years. Cogan's syndrome becomes atypical when the eye and/or ear involvement is of ...
Pre-Sports Cardiac Evaluation
Pre-Sports Cardiac Evaluation

...  Coronary arises from wrong sinus  Passes between great vessels  Can be compressed when CO increased  Can be surgically corrected  EKG is usually normal  Found in 1 % of population  Cause up to 20% of deaths on the athletic field ...
COARCTATION OF THE AORTA What is coarctation of the aorta
COARCTATION OF THE AORTA What is coarctation of the aorta

... What is coarctation of the aorta? Coarctation of the aorta is a congenital heart defect. It is a narrowing in the aorta, which is the large blood vessel that delivers blood from the heart to the rest of the body. The aorta delivers blood to the upper body, then curves like a candy cane and dives dow ...
Genetic Testing for Congenital Long QT Syndrome
Genetic Testing for Congenital Long QT Syndrome

... Congenital long QT syndrome (LQTS) is an inherited disorder characterized by the lengthening of the repolarization phase of the ventricular action potential. This lengthening increases the risk for arrhythmic events, such as torsades de pointes, which may in turn result in syncope and sudden cardiac ...
ANESTHETIC MANAGEMENT IN A PATIENT WITH CORNELIA DE LANGE SYNDROME V W
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... Several genes have been discovered in CdLS (NIPBL, SMC1A, SMC3), all of which are involved in sister chromatid cohesion. Cohesion proteins are involved in chromosome segregation, regulation of gene expression, DNA repair and maintenance of genome stability. Mutations in NIPBL on chromosome 5 account ...
2008_07_31-Thompson-Brugada_syndrome
2008_07_31-Thompson-Brugada_syndrome

... ECG Changes in Brugada Syndrome Epidemiology Pathogenesis Diagnosis Treatment ECG Practice ...
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5. Secondary hypertension

... • Hypertension may result from renal disease that reduces functioning nephrons; • Evidence shows a clear relationship between high blood pressure and end-stage renal disease; • BP should be controlled to 130/85 mmHg (125/75 mmHg in patients with proteinuria in excess of 1g/24 h) ...
Advanced ECG Interpretation
Advanced ECG Interpretation

... Syndrome criteria include T-wave changes plus a history of anginal chest pain without serum marker abnormalities; patients lack Q waves and significant ST-segment elevation; such patients show normal precordial R-wave progression. ...
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... Arrhythmogenic right ventricular cardiomyopathy Congenital heart disease, especially coronary artery anomalies Valvular heart disease Cardiac pacemaker and conducting system disease ...
Left ventricular outflow tract obstruction and Takotsubo syndrome
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... asymmetric hypertrophic cardiomyopathy and LVOT obstruction was therefore made. After several days of observation and ambulation, the patient was discharged in a stable medical condition on aspirin, lisinopril and metoprolol. ...
Transposition of the great arteries (TGA) with a ventricular septal
Transposition of the great arteries (TGA) with a ventricular septal

... The Nikaidoh procedure is one of the established surgical techniques for the management of this complex CHD. It consists of harvesting the aortic root from the right ventricle (with or without one or both coronary arteries attached), reliving the LVOTO (dividing the outlet septum and excising the pu ...
Asymptomatic coarctation in an adult female 1.Dr.P.Mohamed
Asymptomatic coarctation in an adult female 1.Dr.P.Mohamed

... Coarctation, Balloon angioplasty,Hypertension, Congenital malformation Coarctation of the aorta accounts for 5%–10% of congenital heart disease and occurs more frequently in males. It is usually diagnosed during childhood by routine examination of blood pressure and femoral pulse palpation. We descr ...
Congenital Anomalies of the heart
Congenital Anomalies of the heart

... underdeveloped, the right ventricle very small, and also sometimes the tricuspid valve. The condition is also sometimes referred to as hypoplastic right heart. ...
A 60 year old man presents with a complaint of chest pain that
A 60 year old man presents with a complaint of chest pain that

... the coronary arteries, renal arteries, and carotids. The majority of patients with aortic dissection are men between the ages of 60 and 80 years. The most common risk factors in this group are a history of hypertension and atherosclerosis. In younger patients, predisposing factors include a history ...
Case Report Adolescent presentation of interrupted aortic arch with
Case Report Adolescent presentation of interrupted aortic arch with

... them, echocardiogram can provide a wealth of information which other imaging techniques can not provide such as color doppler flow and associated with intracardiac anomalies. Several surgical means have been used for repair of IAA. The end-to-end anastomosis is the most commonly performed repair in ...
A Probable Case of Irukandji Syndrome in Thailand
A Probable Case of Irukandji Syndrome in Thailand

... the syndrome complex of waves of generalized muscular pain, perspiration, vomiting, tachycardia, and collapse occurred, characteristic of the Irukandji syndrome. However, it is apparent that not all the clinical features were classical for this sting type. For example, although the blood pressure wa ...
Scientific abstract - University of Amsterdam
Scientific abstract - University of Amsterdam

... influence the CTA scan images that will be used to plan transcatheter aortic valve implantation (TAVI). Using these images, the size of the prosthesis, the chance for patients to encounter Paravalvular regurgitation after TAVI and the suitability of the access routes are checked. In this study, the ...
Congenital heart defects and associated comorbidities – 5 years of
Congenital heart defects and associated comorbidities – 5 years of

... recent study, Tennsted et al found a CHD in 129 fetuses of the 815 fetuses examined (16%), which is slightly higher than the incidence reported for CHD in necropsies on newborns varying between 6%-13%. In our study most patients admitted with congenital heart defects were infants, followed by toddle ...
奇美醫學中心胸腔內,外,放射科臨床病例綜合討論會
奇美醫學中心胸腔內,外,放射科臨床病例綜合討論會

... The syndrome may be autosomal dominant in inheritance with variable penetrance. It can be associated with the tetrad of Fallot, or truncus arteriosus. An atrial septal defect can be found in up to 25% of these children. Radiographically, the right hemithorax appears small with dextroposition of the ...
奇美醫學中心胸腔內,外,放射科臨床病例綜合討論會
奇美醫學中心胸腔內,外,放射科臨床病例綜合討論會

... The syndrome may be autosomal dominant in inheritance with variable penetrance. It can be associated with the tetrad of Fallot, or truncus arteriosus. An atrial septal defect can be found in up to 25% of these children. Radiographically, the right hemithorax appears small with dextroposition of the ...
Adult Echocardoigraphy. Lecture 9 Valvular Heart Disease
Adult Echocardoigraphy. Lecture 9 Valvular Heart Disease

... fluttering of the mitral valve leaflets (mostly anterior) or ...
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Turner syndrome



Turner syndrome (TS) also known as Ullrich–Turner syndrome, gonadal dysgenesis, and 45,X, is a condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically they are without menstrual periods, do not develop breasts, and are unable to have children. Heart defects, diabetes, and low thyroid hormone occur more frequently. Most people with TS have normal intelligence. Many, however, have troubles with spatial visualization such as that needed for mathematics. Vision and hearing problems occur more often.Turner syndrome is not usually inherited from a person's parents. No environmental risks are known and the mother's age does not play a role. Turner syndrome is due to a chromosomal abnormality in which all or part of one of the X chromosomes is missing or altered. While most people have 46 chromosomes, people with TS usually only have 45. The chromosomal abnormality may be present in just some cells in which case it is known as TS with mosaicism. In these cases, the symptoms are usually fewer and possibly none occur at all. Diagnosis is based on physical signs and genetic testing.No cure for Turner syndrome is known. Treatment, however, may help with symptoms. Human growth hormone injections during childhood may increase adult height. Estrogen replacement therapy can promote development of the breasts and hips. Medical care is often required to manage other health problems with which TS is associated.Turner syndrome occurs in between one in 2000 and one in 5000 females at birth. All regions of the world and cultures are affected about equally. People with TS have a shorter life expectancy, mostly due to heart problems and diabetes. Henry Turner first described the condition in 1938. In 1964, it was determined to be due to a chromosomal abnormality.
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