Myocardial infarction in an individual with Wolff-Parkinson
... and syncope. The electrocardiogram, performed by rescue team, was suggestive of Wolff-Parkinson-White syndrome. He was admitted to Cardiovascular Diseases Institute for this first attack of rapid heart beating which did not readily subside. He died suddenly after admission, with no response to resus ...
... and syncope. The electrocardiogram, performed by rescue team, was suggestive of Wolff-Parkinson-White syndrome. He was admitted to Cardiovascular Diseases Institute for this first attack of rapid heart beating which did not readily subside. He died suddenly after admission, with no response to resus ...
Down syndrome: characterisation of a case with partial trisomy of
... features of DS map to 21q21.3, as suggested by Korenberg et al,5 but also 21q22. One of the difficulties in the construction of a phenotypic map, based on cases of partial trisomy, is that a large proportion of these cases have in addition other chromosomal abnormalities, which may also contribute t ...
... features of DS map to 21q21.3, as suggested by Korenberg et al,5 but also 21q22. One of the difficulties in the construction of a phenotypic map, based on cases of partial trisomy, is that a large proportion of these cases have in addition other chromosomal abnormalities, which may also contribute t ...
Metabolic Syndrome: Overview and Current Guidelines
... the term syndrome X to highlight insulin resistance as a common denominator for the dyslipidemia, elevated blood pressure, and impaired glucose tolerance in the context of abdominal obesity that characterize this syndrome. Other notable features of the syndrome include a proinflammatory state, micr ...
... the term syndrome X to highlight insulin resistance as a common denominator for the dyslipidemia, elevated blood pressure, and impaired glucose tolerance in the context of abdominal obesity that characterize this syndrome. Other notable features of the syndrome include a proinflammatory state, micr ...
Severe paediatric epilepsy syndromes
... Severe epilepsy syndromes of the neonatal period There are two well described epileptic encephalopathies in this age group. They share some common features. Ohtahara syndrome (also known as early infantile epileptic encephalopathy) This is a rare epilepsy syndrome usually presenting in the first few ...
... Severe epilepsy syndromes of the neonatal period There are two well described epileptic encephalopathies in this age group. They share some common features. Ohtahara syndrome (also known as early infantile epileptic encephalopathy) This is a rare epilepsy syndrome usually presenting in the first few ...
NONE - Ontario College of Family Physicians
... • 4 studies on unselected pregnancies ―Most mixed risk, some after pos screen, AMA, fewer with neg or no screen ―> 14,000 pregnancies total, largest (11,000 significant loss to follow up) ...
... • 4 studies on unselected pregnancies ―Most mixed risk, some after pos screen, AMA, fewer with neg or no screen ―> 14,000 pregnancies total, largest (11,000 significant loss to follow up) ...
Human karyotype
... Aneuploidy Monosomy and trisomy are examples Contains extra or missing chromosomes Have an unbalanced chromosome set Chromosomes behave unstably in cell division A common trisomy: Down syndrome = Trisomy 21 Affected individuals have 3 copies of chromosome 21 Affects 1/750 live births Sym ...
... Aneuploidy Monosomy and trisomy are examples Contains extra or missing chromosomes Have an unbalanced chromosome set Chromosomes behave unstably in cell division A common trisomy: Down syndrome = Trisomy 21 Affected individuals have 3 copies of chromosome 21 Affects 1/750 live births Sym ...
Complete Androgen Insensitivity Syndrome in Three Sisters
... as a substrate for estogen synthesis which results in further feminization at prepubertal period. Furthermore dysgenetic male gonads in CAIS tend to undergo malignant transformation and possibility of malignancy increases remarkably with age. If diagnosis of CAIS is established, surgical castration ...
... as a substrate for estogen synthesis which results in further feminization at prepubertal period. Furthermore dysgenetic male gonads in CAIS tend to undergo malignant transformation and possibility of malignancy increases remarkably with age. If diagnosis of CAIS is established, surgical castration ...
RA Update SCE questions Q1 D Biologic half lives Q2 D
... circulating protein. With a background of RA he is most likely to have developed reactive serum AA amyloidosis. The quickest test to confirm your diagnosis would be either rectal or abdominal sc fat biopsy stained for congo red. An abdo sc fat biopsy is preferred as it is more straight forward ...
... circulating protein. With a background of RA he is most likely to have developed reactive serum AA amyloidosis. The quickest test to confirm your diagnosis would be either rectal or abdominal sc fat biopsy stained for congo red. An abdo sc fat biopsy is preferred as it is more straight forward ...
CHD
... • For families with CHD other than flow lesions – Reassure that recurrence risk is no greater than population risk ...
... • For families with CHD other than flow lesions – Reassure that recurrence risk is no greater than population risk ...
Takotsubo cardiomyopathy and the long-QT syndrome
... suggests that there is an underlying predisposition towards repolarization abnormality: a reduced repolarization reserve.17 This term was first coined to describe the impact of QT prolonging drugs on predisposed individuals who then developed TdP. It is, therefore, reasonable to regard TCM as a simi ...
... suggests that there is an underlying predisposition towards repolarization abnormality: a reduced repolarization reserve.17 This term was first coined to describe the impact of QT prolonging drugs on predisposed individuals who then developed TdP. It is, therefore, reasonable to regard TCM as a simi ...
Transmission disequilibrium test and haplotype analysis of the MCP-1
... the transmission disequilibrium test the genotype haplotype relative risk and haplotype-based haplotype relative risk. No biases were observed in the transmission of either of the two alleles (χ2 = 0.016, df = 1, P = 0.898) to the affected probands in the total sample. The analyses of transmission d ...
... the transmission disequilibrium test the genotype haplotype relative risk and haplotype-based haplotype relative risk. No biases were observed in the transmission of either of the two alleles (χ2 = 0.016, df = 1, P = 0.898) to the affected probands in the total sample. The analyses of transmission d ...
Important Echocardiographic Features of Takotsubo or Stress
... ventricular (LV) walls with a hyperdynamic base, not limited to any single coronary territory (Fig. 1). The diagnosis of apical ballooning syndrome should be strongly considered based on this echocardiographic feature in conjunction with clinical data. In selected cases, it is reasonable to defer co ...
... ventricular (LV) walls with a hyperdynamic base, not limited to any single coronary territory (Fig. 1). The diagnosis of apical ballooning syndrome should be strongly considered based on this echocardiographic feature in conjunction with clinical data. In selected cases, it is reasonable to defer co ...
Pollakiuria in Children with Tic Disorders
... children with tics and pollakiuria is significant. Enuresis has been mentioned in children with TD but not pollakiuria. Some medications, such as fluoxetine and milnacipran, may result in pollakiuria.(15,16) Our patients were not exposed to these medications. Some children in the control group did r ...
... children with tics and pollakiuria is significant. Enuresis has been mentioned in children with TD but not pollakiuria. Some medications, such as fluoxetine and milnacipran, may result in pollakiuria.(15,16) Our patients were not exposed to these medications. Some children in the control group did r ...
REPORT A Longer Polyalanine Expansion Mutation in the ARX
... is characterized by mental retardation and dystonic movements of the hands; and West syndrome or infantile spasms in males.6,14 An expansion of 1–3 alanine residues in the first polyalanine tract containing the original 16 alanine residues has been reported in patients with mental retardation, thoug ...
... is characterized by mental retardation and dystonic movements of the hands; and West syndrome or infantile spasms in males.6,14 An expansion of 1–3 alanine residues in the first polyalanine tract containing the original 16 alanine residues has been reported in patients with mental retardation, thoug ...
Effects of Mutations and Genetic Overlap in Inherited Long
... via the interaction with the main pathological substrate by the same gene, or by a different gene, while, according to the case, this interaction may either exacerbate the final pathological expression or mitigate it.68 An indicative example of the exertion of modifying action by the same gene is th ...
... via the interaction with the main pathological substrate by the same gene, or by a different gene, while, according to the case, this interaction may either exacerbate the final pathological expression or mitigate it.68 An indicative example of the exertion of modifying action by the same gene is th ...
Camera-Ready Format
... pattern, concertina effect, and episodic conduction. Changes may occur hour by hour or day by day. ...
... pattern, concertina effect, and episodic conduction. Changes may occur hour by hour or day by day. ...
Bleeding in Paris-Trousseau syndrome
... Paris-Trousseau syndrome • Fli-1 is essential for megakaryocyte and platelet development • Fli-1 promotes platelet development and inhibits red ...
... Paris-Trousseau syndrome • Fli-1 is essential for megakaryocyte and platelet development • Fli-1 promotes platelet development and inhibits red ...
CHROMOSOMES AND DISEASE
... history when many new lands and races were being discovered and described for the first time. Thus the name suggested for people with this specific disability was Mongolism. Today the disorder is more appropriately referred to as Down syndrome or trisomy 21. The disorder results from an abnormality ...
... history when many new lands and races were being discovered and described for the first time. Thus the name suggested for people with this specific disability was Mongolism. Today the disorder is more appropriately referred to as Down syndrome or trisomy 21. The disorder results from an abnormality ...
Fulltext: english,
... Supravalvular aortic stenosis is an obstructive vascular disease, whether it appears as an isolated form (1, 2, 3, 4), or as a part of Williams-Beuren syndrome (5). In both cases, there are abnormalities of the elastin gene mapped on 7q11.23, with the difference that the isolated form of supravalvul ...
... Supravalvular aortic stenosis is an obstructive vascular disease, whether it appears as an isolated form (1, 2, 3, 4), or as a part of Williams-Beuren syndrome (5). In both cases, there are abnormalities of the elastin gene mapped on 7q11.23, with the difference that the isolated form of supravalvul ...
Jemds.com
... may indicate cardiovascular disease. Increased MPV may be due to the body’s use of small platelets during acute ischaemia.23 Thus, MPV has become a prognostic factor in coronary heart disease and may eventually be accepted as a parameter of platelet activity.24 In addition, several reports have demo ...
... may indicate cardiovascular disease. Increased MPV may be due to the body’s use of small platelets during acute ischaemia.23 Thus, MPV has become a prognostic factor in coronary heart disease and may eventually be accepted as a parameter of platelet activity.24 In addition, several reports have demo ...
No irrevocable obstetrical decisions should be made in pregnancies
... • 4 studies on unselected pregnancies ―Most mixed risk, some after pos screen, AMA, fewer with neg or no screen ―> 14,000 pregnancies total, largest (11,000 significant loss to follow up) ...
... • 4 studies on unselected pregnancies ―Most mixed risk, some after pos screen, AMA, fewer with neg or no screen ―> 14,000 pregnancies total, largest (11,000 significant loss to follow up) ...
Cardiac Arrhythmias
... Irregular rapid ventricular depolarization No organized ventricular contractions, no pulse, loss of consciousness Most common cause: AMI, drug toxicity, electrolyte disturbances, electric shock, end stage of many disease processes Management: non-synchronized DC defibrillation, cardiopulmonary resus ...
... Irregular rapid ventricular depolarization No organized ventricular contractions, no pulse, loss of consciousness Most common cause: AMI, drug toxicity, electrolyte disturbances, electric shock, end stage of many disease processes Management: non-synchronized DC defibrillation, cardiopulmonary resus ...
Guide to Marfan syndrome
... The aorta (the main artery carrying blood away from the heart) is generally wider and more fragile in people with Marfan syndrome. This widening is progressive and may result in leakage of the aortic valve or in the development of tears (dissection) in the wall of the aorta. When the aorta becomes w ...
... The aorta (the main artery carrying blood away from the heart) is generally wider and more fragile in people with Marfan syndrome. This widening is progressive and may result in leakage of the aortic valve or in the development of tears (dissection) in the wall of the aorta. When the aorta becomes w ...
More Than Skin Deep: Genetics, Clinical Manifestations, and Diagnosis of Albinism
... protein (MATP), which are each mutated in the OCA subtypes (Figure 1). Tyrosinase catalyzes the hydroxylation of tyrosine to dopaquinone in the bottleneck step of melanin synthesis. Diversion to two pathways then occurs, with one synthesizing the eumelanin that composes brown and black pigments, and ...
... protein (MATP), which are each mutated in the OCA subtypes (Figure 1). Tyrosinase catalyzes the hydroxylation of tyrosine to dopaquinone in the bottleneck step of melanin synthesis. Diversion to two pathways then occurs, with one synthesizing the eumelanin that composes brown and black pigments, and ...
Down syndrome
Down syndrome (DS or DNS) or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is typically associated with physical growth delays, characteristic facial features, and mild to moderate intellectual disability. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental age of an 8- or 9-year-old child, but this varies widely.Down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing, or after birth by direct observation and genetic testing. Since the introduction of screening, pregnancies with the diagnosis are often terminated. Regular screening for health problems common in Down syndrome is recommended throughout the person's life.Education and proper care have been shown to improve quality of life. Some children with Down syndrome are educated in typical school classes, while others require more specialized education. Some individuals with Down syndrome graduate from high school and a few attend post-secondary education. In adulthood, about 20% in the United States do paid work in some capacity with many requiring a sheltered work environment. Support in financial and legal matters is often needed. Life expectancy is around 50 to 60 years in the developed world with proper health care.Down syndrome is one of the most common chromosome abnormalities in humans, occurring in about one per 1000 babies born each year. In 2013 it resulted in 36,000 deaths down from 43,000 deaths in 1990. It is named after John Langdon Down, the British doctor who fully described the syndrome in 1866. Some aspects of the condition were described earlier by Jean-Étienne Dominique Esquirol in 1838 and Édouard Séguin in 1844. The genetic cause of Down syndrome—an extra copy of chromosome 21—was identified by French researchers in 1959.