WPW and Preexcitation Syndromes
... most common arrhythmia, accounting for 95% of re-entrant tachycardias. It has been estimated that one-third of patients with WPW syndrome have atrial fibrillation (AF). AF is a potentially life-threatening arrhythmia. If an accessory pathway has a short anterograde refractory period, then rapid repe ...
... most common arrhythmia, accounting for 95% of re-entrant tachycardias. It has been estimated that one-third of patients with WPW syndrome have atrial fibrillation (AF). AF is a potentially life-threatening arrhythmia. If an accessory pathway has a short anterograde refractory period, then rapid repe ...
Full Paper - International Journal of Pharmaceutical Erudition
... XYY syndrome is a rare chromosomal disorder that affects males. It is caused by the presence of an extra Y chromosome. Males normally have one X and one Y chromosome. However, individuals with this syndrome have one X and two Y chromosomes. Affected individuals are usually very tall. Many experience ...
... XYY syndrome is a rare chromosomal disorder that affects males. It is caused by the presence of an extra Y chromosome. Males normally have one X and one Y chromosome. However, individuals with this syndrome have one X and two Y chromosomes. Affected individuals are usually very tall. Many experience ...
Apolipoprotein E Allele Distribution in Trisomy
... of the cases results live birth, and most of these infants usually die within the first year of life. Among trisomy 21 conceptuses, approximately 15% of the cases result in live birth, and the first-year mortality rate also is quite high. In addition, of the children who survive the first year of li ...
... of the cases results live birth, and most of these infants usually die within the first year of life. Among trisomy 21 conceptuses, approximately 15% of the cases result in live birth, and the first-year mortality rate also is quite high. In addition, of the children who survive the first year of li ...
Animal models for Klinefelter`s syndrome and their relevance for the
... In mammals, the presence of a Y chromosome is the main signal for male sexual determination. The fetal activation of the gene sry (sex-determining region on the Y chromosome) is responsible for the further sexual differentiation of the undifferentiated gonad into a testis (for review, see McElreavey ...
... In mammals, the presence of a Y chromosome is the main signal for male sexual determination. The fetal activation of the gene sry (sex-determining region on the Y chromosome) is responsible for the further sexual differentiation of the undifferentiated gonad into a testis (for review, see McElreavey ...
Figures 1
... clinical diagnostic criteria exist, but diagnosis should be confirmed through genetic testing. Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13 through paternal deletion of this region (65–75% ...
... clinical diagnostic criteria exist, but diagnosis should be confirmed through genetic testing. Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13 through paternal deletion of this region (65–75% ...
Educational Item Section Clinical findings in chromosome aberrations in Oncology and Haematology
... • Masking through major malformations possible. Localisation : All over the body, especially highly differentiated structures, e.g. facies, male genitalia, distal limbs. Development : • Often most impressive in early childhood. • Tendency to catch-up growth of facial structures. • In some aberration ...
... • Masking through major malformations possible. Localisation : All over the body, especially highly differentiated structures, e.g. facies, male genitalia, distal limbs. Development : • Often most impressive in early childhood. • Tendency to catch-up growth of facial structures. • In some aberration ...
Fetal heart rate in chromosomally abnormal fetuses
... of Turner syndrome and 28 of sex chromosome abnormalities other than Turner syndrome. Results In the normal group, fetal heart rate decreased from a mean value of 170 beats per minute (bpm) at 35 mm of crown±rump length to 155 bpm at 84 mm crown±rump length. In trisomy 21, trisomy 13 and Turner synd ...
... of Turner syndrome and 28 of sex chromosome abnormalities other than Turner syndrome. Results In the normal group, fetal heart rate decreased from a mean value of 170 beats per minute (bpm) at 35 mm of crown±rump length to 155 bpm at 84 mm crown±rump length. In trisomy 21, trisomy 13 and Turner synd ...
Klinefelter`s syndrome (karyotype 47,XXY)
... The present study shows that the 47,XXY karyotype is strongly associated with high levels of schizophrenia spectrum pathology. This was evident in dimensional measures of schizotypal traits (SPQ) as well as actual schizophrenia symptoms (PANSS). Notably, magnitudes of the effect sizes of schizotypy ...
... The present study shows that the 47,XXY karyotype is strongly associated with high levels of schizophrenia spectrum pathology. This was evident in dimensional measures of schizotypal traits (SPQ) as well as actual schizophrenia symptoms (PANSS). Notably, magnitudes of the effect sizes of schizotypy ...
... Thus, the possibility of ocular tics was entertained. Tics possess three features that can help differentiate them from other movement disorders27: (1) they are often preceded by a sensation and an irresistible urge to move28; (2) they can be wilfully suppressed; and (3) they persist in all stages o ...
8-chromo_struct variation [Autosaved]
... stubby hands • Some babies may have short necks, small hands, and short fingers. • They are characterized as low in mentality. • Down syndrome results if the extra chromosome is number 21. ...
... stubby hands • Some babies may have short necks, small hands, and short fingers. • They are characterized as low in mentality. • Down syndrome results if the extra chromosome is number 21. ...
Population-based study of congenital heart defects in Down syndrome
... CHD, they reported similar rates of AVSDs (53% versus 45% of CHD in our study) and 2° ASD (20% versus our 26% isolated or with other CHD), but their proportion of VSDs was smaller (17% versus our 35%). In general, all of the recent reports listed in Table I confirmed that an AVSD is the most common ...
... CHD, they reported similar rates of AVSDs (53% versus 45% of CHD in our study) and 2° ASD (20% versus our 26% isolated or with other CHD), but their proportion of VSDs was smaller (17% versus our 35%). In general, all of the recent reports listed in Table I confirmed that an AVSD is the most common ...
View/Open
... process called restitution), there is no consequence to the break. If they do not rejoin, the result is an acentric fragment, without a centromere, and a centric fragment, with a centromere. The centric fragment migrates normally during the division process because it has a centromere.The acentric f ...
... process called restitution), there is no consequence to the break. If they do not rejoin, the result is an acentric fragment, without a centromere, and a centric fragment, with a centromere. The centric fragment migrates normally during the division process because it has a centromere.The acentric f ...
Piriformis syndrome is a neuromuscular condition that remains
... or S1 radiculopathy, this peripheral neuritis is presumed to be the result of an abnormal piriformis muscle or compression/irritation of the sciatic nerve as it travels under or through the muscle.2 Given its similar presentation to ...
... or S1 radiculopathy, this peripheral neuritis is presumed to be the result of an abnormal piriformis muscle or compression/irritation of the sciatic nerve as it travels under or through the muscle.2 Given its similar presentation to ...
Understanding Intra-Abdominal Pressures
... of the intra-abdominal hypertension that can lead to abdominal compartment syndrome and the rationale for trending intra-abdominal pressures. Malbrain, et al (2006) conducted a prevalence study in 13 intensive care units and assessed 97 patients. The overall prevalence of intra-abdominal hypertensio ...
... of the intra-abdominal hypertension that can lead to abdominal compartment syndrome and the rationale for trending intra-abdominal pressures. Malbrain, et al (2006) conducted a prevalence study in 13 intensive care units and assessed 97 patients. The overall prevalence of intra-abdominal hypertensio ...
Genetic of PWS – Explanation for the Rest of Us - Prader
... • More than one gene is involved in PWS, and these genes are near each other in a small area of what is called the “long arm” of chromosome 15—in a region labeled 15q11-q13. Scientists still don’t know exactly how many genes and which specific ones are involved. • The critical genes must come from t ...
... • More than one gene is involved in PWS, and these genes are near each other in a small area of what is called the “long arm” of chromosome 15—in a region labeled 15q11-q13. Scientists still don’t know exactly how many genes and which specific ones are involved. • The critical genes must come from t ...
Hypoplastic Left Heart Syndrome X-ray Findings
... Oxygenated blood from LV goes to major vessels of head and neck Q ...
... Oxygenated blood from LV goes to major vessels of head and neck Q ...
A Family Guide to the Ectodermal Dysplasia Syndromes
... normally held do not develop well, which may lead to an “oldage” appearance of the face. Some females, who are carriers for the types of ED syndromes that affect males much more severely (the genetically X-linked types) may have small jaws and front teeth that are narrower than normal. Before dentur ...
... normally held do not develop well, which may lead to an “oldage” appearance of the face. Some females, who are carriers for the types of ED syndromes that affect males much more severely (the genetically X-linked types) may have small jaws and front teeth that are narrower than normal. Before dentur ...
Leukaemia Section del(17p) in myeloïd malignancies Atlas of Genetics and Cytogenetics
... Most cases of ANLL and MDS with 17p deletion have a particular form of morphological dysgranulopoiesis, combining both nuclear and cytoplasmic abnormalities in at least 5% of neutrophils; affected cells have reduced size and are mostly mature; nucleus is bi- or non-lobulated and chromatin is well- o ...
... Most cases of ANLL and MDS with 17p deletion have a particular form of morphological dysgranulopoiesis, combining both nuclear and cytoplasmic abnormalities in at least 5% of neutrophils; affected cells have reduced size and are mostly mature; nucleus is bi- or non-lobulated and chromatin is well- o ...
Patients With Syndrome X Have Normal Transmural Myocardial
... Background—The pathophysiology of chest pain in patients with cardiac syndrome X remains controversial. Advances in perfusion imaging with cardiovascular magnetic resonance (CMR) now enable absolute quantification of regional myocardial blood flow (MBF). Furthermore, blood oxygen level-dependent (BO ...
... Background—The pathophysiology of chest pain in patients with cardiac syndrome X remains controversial. Advances in perfusion imaging with cardiovascular magnetic resonance (CMR) now enable absolute quantification of regional myocardial blood flow (MBF). Furthermore, blood oxygen level-dependent (BO ...
Tourette Syndrome - Canadian Psychological Association
... TS rarely occurs in isolation. Other neurodevelopmental conditions which commonly co-occur with TS are Attention-Deficit/Hyperactivity Disorder (ADHD), Obsessive-Compulsive Disorder (OCD), Learning Disorders, and sensory processing dysfunctions. When an individual must contend with many or all of th ...
... TS rarely occurs in isolation. Other neurodevelopmental conditions which commonly co-occur with TS are Attention-Deficit/Hyperactivity Disorder (ADHD), Obsessive-Compulsive Disorder (OCD), Learning Disorders, and sensory processing dysfunctions. When an individual must contend with many or all of th ...
Cancer Prone Disease Section Familial Juvenile Polyposis Syndrome in Oncology and Haematology
... Juvenile Polyposis has variable expressivity. Even within the same family carrying a particular susceptibility mutation, some patients may develop polyps at a young age, while others may have negative endoscopic screening for many years before manifesting polyposis symptoms. The number of polyps tha ...
... Juvenile Polyposis has variable expressivity. Even within the same family carrying a particular susceptibility mutation, some patients may develop polyps at a young age, while others may have negative endoscopic screening for many years before manifesting polyposis symptoms. The number of polyps tha ...
Proposal - Dx Revision Watch
... immunologists and that findings would also be important for other neurological disorders, including multiple sclerosis. Attendees considered other terms used to describe the disease but rejected these as unsatisfactory. They agreed on "myalgic encephalomyelitis," omitting the prefix "benign" in resp ...
... immunologists and that findings would also be important for other neurological disorders, including multiple sclerosis. Attendees considered other terms used to describe the disease but rejected these as unsatisfactory. They agreed on "myalgic encephalomyelitis," omitting the prefix "benign" in resp ...
Simultaneous Bilateral Subdural Hygromas
... ruptured arachnoid cysts.2 Other etiologies are controversial, but most subdural hygromas are thought to be derived from chronic subdural hematomas. Other possible etiologies include a sudden decrease in pressure by ventricular shunting, severe brain atrophy, head trauma, dehydration in the elderly, ...
... ruptured arachnoid cysts.2 Other etiologies are controversial, but most subdural hygromas are thought to be derived from chronic subdural hematomas. Other possible etiologies include a sudden decrease in pressure by ventricular shunting, severe brain atrophy, head trauma, dehydration in the elderly, ...
Brain fag syndrome - Psychiatric Bulletin
... and crawling sensations in the Brain Fag Syndrome Scale are important empirical steps towards this.11 If a prevalent disorder, the exponential growth in secondary and tertiary educational institutions (online Fig. DS1) would potentially have an impact on the mental well-being of millions of adolesce ...
... and crawling sensations in the Brain Fag Syndrome Scale are important empirical steps towards this.11 If a prevalent disorder, the exponential growth in secondary and tertiary educational institutions (online Fig. DS1) would potentially have an impact on the mental well-being of millions of adolesce ...
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.