Study Guide, Medical Course
... SPE 636 Medical Aspects of Low incidence Disabilities Winter’12 (3 credits). Professor Bersani ...
... SPE 636 Medical Aspects of Low incidence Disabilities Winter’12 (3 credits). Professor Bersani ...
BASICS OF CONGENITAL ANOMALIES
... defects and deafness in the offspring Thalidomide tragedy- thalidomide was widely used as a sedative during 1958-1962. Severe limb anomalies were seen in babies born to mothers who took it in 1st trimester 40% of these babies died in early infancy due to severe cardiac, renal or GI anomalies ...
... defects and deafness in the offspring Thalidomide tragedy- thalidomide was widely used as a sedative during 1958-1962. Severe limb anomalies were seen in babies born to mothers who took it in 1st trimester 40% of these babies died in early infancy due to severe cardiac, renal or GI anomalies ...
Question 1
... The next patient in clinic is the mother of a 13-mo-old boy recently diagnosed with factor VIII deficiency hemophilia. The woman is in the 1st trimester of her 2nd pregnancy, and is interested in knowing if prenatal diagnosis is available. Of the following, the statement about prenatal diagnosis tha ...
... The next patient in clinic is the mother of a 13-mo-old boy recently diagnosed with factor VIII deficiency hemophilia. The woman is in the 1st trimester of her 2nd pregnancy, and is interested in knowing if prenatal diagnosis is available. Of the following, the statement about prenatal diagnosis tha ...
A Case of Loeffler`s Endocarditis Associated with Churg
... fibrosis with resultant obliterative and restrictive cardiomyopathy.7) The early necrotic stage is usually not recognized clinically. In this stage, a damage to the endocardium and infiltration of the myocardium with eosinophils and lymphocytes occur resulting in histopathologic evidence of myocardi ...
... fibrosis with resultant obliterative and restrictive cardiomyopathy.7) The early necrotic stage is usually not recognized clinically. In this stage, a damage to the endocardium and infiltration of the myocardium with eosinophils and lymphocytes occur resulting in histopathologic evidence of myocardi ...
File
... “You will never change your life until you change something that you do daily” - John C. Maxwell “There is nothing in the caterpillar that tells you it I going to be a butterfly” - Buckminster Fuller ...
... “You will never change your life until you change something that you do daily” - John C. Maxwell “There is nothing in the caterpillar that tells you it I going to be a butterfly” - Buckminster Fuller ...
Insert Presentation title here
... NCEP=National Cholesterol Education Program. ATP III=Third Report of NCEP Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults. ...
... NCEP=National Cholesterol Education Program. ATP III=Third Report of NCEP Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults. ...
just disorders - local.brookings.k12.sd.us
... person unable to stop bleeding after an injury _______________ ...
... person unable to stop bleeding after an injury _______________ ...
NIPT - Mombaby.org
... typically happens by chance and does not run in families. Individuals with Down syndrome usually have developmental delays and intellectual disabilities. They are also at increased risk for heart problems and other health concerns. All people with Down syndrome are unique. In most cases, it is not p ...
... typically happens by chance and does not run in families. Individuals with Down syndrome usually have developmental delays and intellectual disabilities. They are also at increased risk for heart problems and other health concerns. All people with Down syndrome are unique. In most cases, it is not p ...
Hello
... syndrome. The clinical features of Down include mental retardation with later onset of Alzheimer’s disease, microcephaly (disproportionately small head), macroglossia (large tongue), small stature, heart abnormalities, and a transverse palmar crease, as seen in the picture on the right. Otitis and m ...
... syndrome. The clinical features of Down include mental retardation with later onset of Alzheimer’s disease, microcephaly (disproportionately small head), macroglossia (large tongue), small stature, heart abnormalities, and a transverse palmar crease, as seen in the picture on the right. Otitis and m ...
NSGC Cardiovascular Genetics Pocket Guide
... exercise or emotional distress • Unexplained seizures, seizures with normal neurological evaluation • ICD/Pacemaker (<50 years) • Heart failure (<60 years) • Heart transplant (<60 years) • Cardiomyopathy or “enlarged heart” • Arrhythmia or “irregular heartbeat” Cardiomyopathy ...
... exercise or emotional distress • Unexplained seizures, seizures with normal neurological evaluation • ICD/Pacemaker (<50 years) • Heart failure (<60 years) • Heart transplant (<60 years) • Cardiomyopathy or “enlarged heart” • Arrhythmia or “irregular heartbeat” Cardiomyopathy ...
Trisomy 21: The Story of Down Syndrome What is Down syndrome?
... Down syndrome is a set of physical and mental traits caused by a gene problem that happens before birth. Children with Down syndrome tend to have certain features, such as a flat face and a short neck. They also have some degree of mental retardation. This varies from person to person, but in most c ...
... Down syndrome is a set of physical and mental traits caused by a gene problem that happens before birth. Children with Down syndrome tend to have certain features, such as a flat face and a short neck. They also have some degree of mental retardation. This varies from person to person, but in most c ...
Chromosomal Genetics and Pathology (Dr
... <30 maternal age – 1% (due to possible parental gonadal mosaicism, or genetic predisposition for non-disjunction) >30 maternal age – 1% plus age-related risk Robertsonian translocation 2 acrocentric chromosomes (D =13, 14, 15; G = 21, 22) joined at the centromere region of all infants with D ...
... <30 maternal age – 1% (due to possible parental gonadal mosaicism, or genetic predisposition for non-disjunction) >30 maternal age – 1% plus age-related risk Robertsonian translocation 2 acrocentric chromosomes (D =13, 14, 15; G = 21, 22) joined at the centromere region of all infants with D ...
Editorial - Ontario Association on Developmental Disabilities
... syndrome, children with Down syndrome are more likely to resemble their parents than they are to resemble other children with Down syndrome. There are, however, a number of physical features that are common to people with Down syndrome. These include almond shaped eyes with an epicanthal fold, small ...
... syndrome, children with Down syndrome are more likely to resemble their parents than they are to resemble other children with Down syndrome. There are, however, a number of physical features that are common to people with Down syndrome. These include almond shaped eyes with an epicanthal fold, small ...
Lecture 2 4285 2015 - Scheid Signalling Lab @ York University
... • If paternal chromosome 15 is missing, then only the maternally expressed proteins are made • Consequence: UBE3A is ok, but other genes in the region are not expressed…Prader-Willi syndrome ...
... • If paternal chromosome 15 is missing, then only the maternally expressed proteins are made • Consequence: UBE3A is ok, but other genes in the region are not expressed…Prader-Willi syndrome ...
Heart Rhythm Refresher Course 2014 Module 1: My Diagnostic
... Affected patients typically present with life-threatening VT or VF occurring during emotional or physical stress, with syncope often being the first manifestation of the disease. Although sporadic cases occur, this is a largely familial disease . The majority of known cases are due to mutations in t ...
... Affected patients typically present with life-threatening VT or VF occurring during emotional or physical stress, with syncope often being the first manifestation of the disease. Although sporadic cases occur, this is a largely familial disease . The majority of known cases are due to mutations in t ...
WILLIAMS SYNDROME
... mystery of WS but they do not point to any simple explanation to understanding the complex behavioral profile of WS. ...
... mystery of WS but they do not point to any simple explanation to understanding the complex behavioral profile of WS. ...
X chromosome
... 2. Multi-factoral – combination of environmental factors and mutations in multiple genes – more complicated Examples: heart disease, high blood pressure, Alzheimer’s disease, arthritis, diabetes, cancer, and obesity ...
... 2. Multi-factoral – combination of environmental factors and mutations in multiple genes – more complicated Examples: heart disease, high blood pressure, Alzheimer’s disease, arthritis, diabetes, cancer, and obesity ...
GENETIC DISORDERS
... • Some effects include mental delay, weakened cardiovascular system, shortened limbs, widely-spaced eyes, receding forehead/chin, and protruding tongue. ...
... • Some effects include mental delay, weakened cardiovascular system, shortened limbs, widely-spaced eyes, receding forehead/chin, and protruding tongue. ...
Genetic Disorders
... Your job is to explain the relationship of your technology to DNA/ chromosomes/ genes. What is the process that involves genetic material? What tools are used? What happens in the lab? How do people use the information from the lab? What are some examples of this? Definer (part 2): What has happened ...
... Your job is to explain the relationship of your technology to DNA/ chromosomes/ genes. What is the process that involves genetic material? What tools are used? What happens in the lab? How do people use the information from the lab? What are some examples of this? Definer (part 2): What has happened ...
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 ...
1 - KSU Faculty Member websites
... In which kind of cross would you expect to find a ratio of 9:3:3:1 among the F2 offspring? A. monohybrid cross B. dihybrid cross C. test cross D. none of the above Answer:B ...
... In which kind of cross would you expect to find a ratio of 9:3:3:1 among the F2 offspring? A. monohybrid cross B. dihybrid cross C. test cross D. none of the above Answer:B ...
Terms in Excel spreadsheet
... "DHPLC", "CCM" and "PCR/diagnostic restriction". Leave blank if uncertain chr_abnormality? - Looks at whether or not the person has chromosomal abnormalities (translocations, extra X chromosome, etc.). Give results if known, leave blank if uncertain. pcr_repeat - Has the variation been found in a re ...
... "DHPLC", "CCM" and "PCR/diagnostic restriction". Leave blank if uncertain chr_abnormality? - Looks at whether or not the person has chromosomal abnormalities (translocations, extra X chromosome, etc.). Give results if known, leave blank if uncertain. pcr_repeat - Has the variation been found in a re ...
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.