Document
... 1. Smoking is implicated in any of the following conditions EXCEPT: A. Lung Carcinoma C. Myocardial Infarction B. Bronchial Metaplasia D. Breast Carcinoma 2. Liver biopsy of a 57-year old executive showed lipid accumulation within the liver cells competing and displacing the nucleus to the periphery ...
... 1. Smoking is implicated in any of the following conditions EXCEPT: A. Lung Carcinoma C. Myocardial Infarction B. Bronchial Metaplasia D. Breast Carcinoma 2. Liver biopsy of a 57-year old executive showed lipid accumulation within the liver cells competing and displacing the nucleus to the periphery ...
Marfan Syndrome: A Case Study - International Journal of Scientific
... fingers, aortic root dilatation and dissection, lens dislocation and myopia. Further less specific features include high arched palate, crowding of the teeth and skin striae.5 Medical management may not reverse the features seen, but can reduce the progression and the severity of the symptoms. Beta ...
... fingers, aortic root dilatation and dissection, lens dislocation and myopia. Further less specific features include high arched palate, crowding of the teeth and skin striae.5 Medical management may not reverse the features seen, but can reduce the progression and the severity of the symptoms. Beta ...
Slide ()
... enlargement in left ventricular volume shifts the diastolic pressure-volume curve rightward. Hypertrophy of the ventricle shifts the isovolumic pressureSource: Cardiovascular Disorders: Heart Disease, Pathophysiology of Disease: An Introduction to Clinical Medicine, 7e volume curve leftward (not sho ...
... enlargement in left ventricular volume shifts the diastolic pressure-volume curve rightward. Hypertrophy of the ventricle shifts the isovolumic pressureSource: Cardiovascular Disorders: Heart Disease, Pathophysiology of Disease: An Introduction to Clinical Medicine, 7e volume curve leftward (not sho ...
Genetic Testing for Loeys-Dietz Syndrome (LDS)
... How can genetic testing help individuals and families with Loeys-Dietz Syndrome? Genetic testing can help to distinguish Loeys-Dietz Syndrome from Marfan Syndrome and vascular Ehlers-Danlos Syndrome. If the familial mutation is known, genetic testing can help to identify family members who are at ri ...
... How can genetic testing help individuals and families with Loeys-Dietz Syndrome? Genetic testing can help to distinguish Loeys-Dietz Syndrome from Marfan Syndrome and vascular Ehlers-Danlos Syndrome. If the familial mutation is known, genetic testing can help to identify family members who are at ri ...
Heart Rhythm Refresher Course 2014 Module 1: My Diagnostic
... Indications for genetic testing. Provided is a table of possible indications for genetic testing for hypertrophic cardiomyopathy (HCM), long-QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and Brugada syndrome (BrS). LVH indicates left ventricular hypertrophy; QTc, ...
... Indications for genetic testing. Provided is a table of possible indications for genetic testing for hypertrophic cardiomyopathy (HCM), long-QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and Brugada syndrome (BrS). LVH indicates left ventricular hypertrophy; QTc, ...
Cardiology Notes
... the dissection flap involves close to the aortic root, then the coronary flow can be affected, causing either inferior MI in right coronary artery or anterior MI in left anterior descending artery involvement. Cardiac tamponade can also be caused by dissection (blood flowing into pericardial space) ...
... the dissection flap involves close to the aortic root, then the coronary flow can be affected, causing either inferior MI in right coronary artery or anterior MI in left anterior descending artery involvement. Cardiac tamponade can also be caused by dissection (blood flowing into pericardial space) ...
Clinical and cytogenetic profile of Down syndrome at King Hussein
... trisomy (non-disjunction) was seen in 74 patients (92.5%), two (2.5%) had translocation, and three (3.8%) were mosaics and one patient (1.3%) had an additional chromosomal abnormality which was 48, XXY+21, Table II, parents of the two patients with translocation had normal karyotype which means that ...
... trisomy (non-disjunction) was seen in 74 patients (92.5%), two (2.5%) had translocation, and three (3.8%) were mosaics and one patient (1.3%) had an additional chromosomal abnormality which was 48, XXY+21, Table II, parents of the two patients with translocation had normal karyotype which means that ...
A Neonate with Berry Syndrome (AP Window with Interrupted Aortic
... oval defect between the aorta and pulmonary trunk, although in about 10% of patients the defect is small. The pulmonary arteries are normally related to the pulmonary trunk. Rarely, there is a complex syndrome of the AP window, usually in the downstream portion of the ascending aorta, with aortic or ...
... oval defect between the aorta and pulmonary trunk, although in about 10% of patients the defect is small. The pulmonary arteries are normally related to the pulmonary trunk. Rarely, there is a complex syndrome of the AP window, usually in the downstream portion of the ascending aorta, with aortic or ...
Routes to Parenthood: Fertility Treatment
... Turner’s Syndrome and getting pregnant Fortunately, there are fertility treatments available to help increase your chances of having a baby. However, pregnancy can be especially risky for some patients with Turner’s Syndrome. The risks range from problems with the aortic valve to issues with the kid ...
... Turner’s Syndrome and getting pregnant Fortunately, there are fertility treatments available to help increase your chances of having a baby. However, pregnancy can be especially risky for some patients with Turner’s Syndrome. The risks range from problems with the aortic valve to issues with the kid ...
Dermatologic Features in Pallister–Killian Syndrome and their
... Pallister–Killian syndrome is a rare (less than 1:10,000) and sporadic chromosomal abnormality characterized by the mosaic presence of a supernumerary 12p isochromosome. Affected patients have four copies of the short arm of chromosome 12 instead of two and although the anomaly is frequent in fibrobla ...
... Pallister–Killian syndrome is a rare (less than 1:10,000) and sporadic chromosomal abnormality characterized by the mosaic presence of a supernumerary 12p isochromosome. Affected patients have four copies of the short arm of chromosome 12 instead of two and although the anomaly is frequent in fibrobla ...
Congenital Heart Disease in the Adult
... the site and extent of obstruction and the presence of associated cardiac anomalies, most commonly a bicuspid aortic valve. • Circle of Willis aneurysms may occur in up to 10% and pose a high risk of sudden rupture and death. ...
... the site and extent of obstruction and the presence of associated cardiac anomalies, most commonly a bicuspid aortic valve. • Circle of Willis aneurysms may occur in up to 10% and pose a high risk of sudden rupture and death. ...
Mucopolysaccharides
... It is possibly the most common of the mucopolysaccharide storage diseases ! It has a relatively late onset rather than during the first year of life ...
... It is possibly the most common of the mucopolysaccharide storage diseases ! It has a relatively late onset rather than during the first year of life ...
ANEURYSMS AND DISSECTIONS
... hereditary defects in structural components of the aorta (e.g., defective fibrillin production in Marfan disease affects elastic tissue synthesis) an altered balance of collagen degradation and synthesis mediated by local inflammatory infiltrates and the destructive proteolytic ...
... hereditary defects in structural components of the aorta (e.g., defective fibrillin production in Marfan disease affects elastic tissue synthesis) an altered balance of collagen degradation and synthesis mediated by local inflammatory infiltrates and the destructive proteolytic ...
Prenatal screening for chromosomal abnormalities through
... having a child with Down’s syndrome (trisomy 21), Edward’s syndrome (trisomy 18) and Patau’s syndrome (trisomy 13). Down’s syndrome, which is the most common chromosomal abnormality, causes mental disorder and is often associated with cardiac and gastrointestinal abnormalities, as well as hearing an ...
... having a child with Down’s syndrome (trisomy 21), Edward’s syndrome (trisomy 18) and Patau’s syndrome (trisomy 13). Down’s syndrome, which is the most common chromosomal abnormality, causes mental disorder and is often associated with cardiac and gastrointestinal abnormalities, as well as hearing an ...
Down Syndrome information sheet
... Problems of the thyroid gland occur in 20–50% of individuals with DS. Low thyroid is the most common form, occurring in almost half of all individuals. DS is caused by having three copies of the genes on chromosome 21, rather than the usual two. Those who have one child with DS have about a 1% risk ...
... Problems of the thyroid gland occur in 20–50% of individuals with DS. Low thyroid is the most common form, occurring in almost half of all individuals. DS is caused by having three copies of the genes on chromosome 21, rather than the usual two. Those who have one child with DS have about a 1% risk ...
Genetic Disorders
... Trisomy 18 (Edwards Syndrome) Trisomy 21 (Down Syndrome) Turner's Syndrome Williams Syndrome ...
... Trisomy 18 (Edwards Syndrome) Trisomy 21 (Down Syndrome) Turner's Syndrome Williams Syndrome ...
Medical Genetics
... • Many types of autosomal aneuploidy have been found in spontaneously aborted embryos , but only trisomic conditions of some of the smaller autosomes are compatible with post-natal life, in which the abnormal cell line occurs in mosaic form with a normal cell lines. • Three autosomal trisomes are we ...
... • Many types of autosomal aneuploidy have been found in spontaneously aborted embryos , but only trisomic conditions of some of the smaller autosomes are compatible with post-natal life, in which the abnormal cell line occurs in mosaic form with a normal cell lines. • Three autosomal trisomes are we ...
Klinefelter Syndrome - Boulder Valley School District
... • -Patients who need help coping with the social anxieties of the syndrome can seek mental help groups and counseling. People affected with Klinefelter Syndrome can become depressed and feel different and somewhat as an outcast. They are “less masculine” than average males, and can be mocked for the ...
... • -Patients who need help coping with the social anxieties of the syndrome can seek mental help groups and counseling. People affected with Klinefelter Syndrome can become depressed and feel different and somewhat as an outcast. They are “less masculine” than average males, and can be mocked for the ...
Mitral valve disease in Marfan`s syndrome
... adults, with aortic dilatation, incompetence, or dissection, is well known, few paediatric text books make the point that in children and young adults with the disease mitral valve abnormalities are found more commonly than aortic lesions. Indeed, the most commonly used reference book about malforma ...
... adults, with aortic dilatation, incompetence, or dissection, is well known, few paediatric text books make the point that in children and young adults with the disease mitral valve abnormalities are found more commonly than aortic lesions. Indeed, the most commonly used reference book about malforma ...
Sudden death of a premature new-born with hypoplastic left heart
... entity, a part of the cardiac congenital maladies, with a birth frequency of 1/15000. It is a severe disease with a huge mortality index after-birth. The lack of development of the left ventricle and the atresia with mitral or aortic stenosis mainly characterizes the syndrome. ...
... entity, a part of the cardiac congenital maladies, with a birth frequency of 1/15000. It is a severe disease with a huge mortality index after-birth. The lack of development of the left ventricle and the atresia with mitral or aortic stenosis mainly characterizes the syndrome. ...
Ohdo Syndrome - Complex Child Magazine
... Our kids are incredibly special and unique. There aren’t words to describe how quirky and beautiful Spencer is. There is something amazingly special and collectively unique about our kids that all of us parents of kids with Ohdo Syndrome see and it’s the most brilliant thing. Our kids have Ohdo ...
... Our kids are incredibly special and unique. There aren’t words to describe how quirky and beautiful Spencer is. There is something amazingly special and collectively unique about our kids that all of us parents of kids with Ohdo Syndrome see and it’s the most brilliant thing. Our kids have Ohdo ...
A Case of Loeffler`s Endocarditis Associated with Churg
... mortality in Churg-Strauss syndrome (CSS). It can be presented as cardiac arrest, myocardial infarction, vascular heart disease, congestive heart failure, pericardial effusion, and acute or chronic constrictive pericarditis.1-6) Loeffler’s endomyocarditis is an inflammatory cardiac condition charact ...
... mortality in Churg-Strauss syndrome (CSS). It can be presented as cardiac arrest, myocardial infarction, vascular heart disease, congestive heart failure, pericardial effusion, and acute or chronic constrictive pericarditis.1-6) Loeffler’s endomyocarditis is an inflammatory cardiac condition charact ...
Aortic dissection The aorta is a large artery that takes blood from the
... where the rupture was caused. When blood flows toward the area of the rupture, it gets even bigger. This tear generally goes in the opposite direction of the heart. It is more common for it to occur where there is high pressure on the artery wall as a result of the flow of blood. The part where the ...
... where the rupture was caused. When blood flows toward the area of the rupture, it gets even bigger. This tear generally goes in the opposite direction of the heart. It is more common for it to occur where there is high pressure on the artery wall as a result of the flow of blood. The part where the ...
IOSR Journal of Dental and Medical Sciences (IOSR-JDMS)
... Inner ear changes include absent vestibules and semicircular canals. Cochlear abnormalities include total absence of the cochlea, decreased number of coils, and a Mondini anomaly. Ossicular chain abnormalities are also described. These include deformed or absent ossicles, malformed or fixed stap ...
... Inner ear changes include absent vestibules and semicircular canals. Cochlear abnormalities include total absence of the cochlea, decreased number of coils, and a Mondini anomaly. Ossicular chain abnormalities are also described. These include deformed or absent ossicles, malformed or fixed stap ...
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.