Management of Aborted Sudden Cardiac Arrest with J Wave
... The Heart Research center of Chonnam National University Hospital, Cardiovascular Research Institute of Chonnam ...
... The Heart Research center of Chonnam National University Hospital, Cardiovascular Research Institute of Chonnam ...
血红蛋白病 血红蛋白
... Cleft Lip: The lip forms between the fourth and seventh weeks of pregnancy. A cleft lip happens if the tissue that makes up the lip does not join completely before birth. ...
... Cleft Lip: The lip forms between the fourth and seventh weeks of pregnancy. A cleft lip happens if the tissue that makes up the lip does not join completely before birth. ...
血红蛋白病 血红蛋白
... Cleft Lip: The lip forms between the fourth and seventh weeks of pregnancy. A cleft lip happens if the tissue that makes up the lip does not join completely before birth. ...
... Cleft Lip: The lip forms between the fourth and seventh weeks of pregnancy. A cleft lip happens if the tissue that makes up the lip does not join completely before birth. ...
Volume-dependent superior vena cava syndrome related to stenosis
... cases; central venous stenosis due to mediastinitis or intraluminal vascular malignant disease are other reported causes.16–21 Long-term central venous catheterization for parenteral nutrition or chemotherapy is an increasingly common cause of SVC obstruction, occurring at a rate of 3.9 cases per 10 ...
... cases; central venous stenosis due to mediastinitis or intraluminal vascular malignant disease are other reported causes.16–21 Long-term central venous catheterization for parenteral nutrition or chemotherapy is an increasingly common cause of SVC obstruction, occurring at a rate of 3.9 cases per 10 ...
Monomorphic Ventricular Tachycardia Originating From Right
... Introduction: Brugada Syndrome is a cardiac ion channel disorder that affects the sodium current. This syndrome is characterized by cove-shaped ST elevation in ECG leads V1 to V3 in the absence of structural heart disease. Case Presentation: A 36-year-old man diagnosed with Brugada Syndrome was reff ...
... Introduction: Brugada Syndrome is a cardiac ion channel disorder that affects the sodium current. This syndrome is characterized by cove-shaped ST elevation in ECG leads V1 to V3 in the absence of structural heart disease. Case Presentation: A 36-year-old man diagnosed with Brugada Syndrome was reff ...
Uniparental Disomy (UPD)
... The 46 chromosomes in each cell of the human body can be divided into 23 pairs.1 Normally, one chromosome of each pair is inherited from the mother and one from the father. Uniparental disomy (UPD) is an atypical inheritance pattern in which both members of a single pair of chromosomes are inherited ...
... The 46 chromosomes in each cell of the human body can be divided into 23 pairs.1 Normally, one chromosome of each pair is inherited from the mother and one from the father. Uniparental disomy (UPD) is an atypical inheritance pattern in which both members of a single pair of chromosomes are inherited ...
Beals syndrom
... which are highly similar but distinct genes situated in 5q23-31 and 15q15-21.3 ...
... which are highly similar but distinct genes situated in 5q23-31 and 15q15-21.3 ...
Non-syndromic progressive hearing loss DFNA38 is caused by
... showed that VI:3 does not have optic atrophy but has mild nonproliferative diabetic retinopathy. Tonal audiometry revealed mild sensorineural hearing loss (20–30 dB) at 500 and 4000 Hz. The neurologic exam was completely normal. Renal ultrasound was normal. In summary, VI:3 has features of Wolfram s ...
... showed that VI:3 does not have optic atrophy but has mild nonproliferative diabetic retinopathy. Tonal audiometry revealed mild sensorineural hearing loss (20–30 dB) at 500 and 4000 Hz. The neurologic exam was completely normal. Renal ultrasound was normal. In summary, VI:3 has features of Wolfram s ...
Foal Immunodeficiency
... Attempts at symptomatic treatment have been made; these include rehydration, antibiotics, vitamin and mineral (Se) supplements, analgesia, blood transfusions, erythropoietin injections. Despite extensive treatment and supportive therapy, foals die or are euthanased on the basis of lethargy, serve an ...
... Attempts at symptomatic treatment have been made; these include rehydration, antibiotics, vitamin and mineral (Se) supplements, analgesia, blood transfusions, erythropoietin injections. Despite extensive treatment and supportive therapy, foals die or are euthanased on the basis of lethargy, serve an ...
XYY Syndrome - Society for the Study of Behavioural Phenotypes
... is expected . The tall stature is explained by the presence of additional copies of the SHOX gene (and possibly also other genes related to stature) in subjects with 47,XYY. A severe cystic acne may develop during adolescence. Asthma prevalence is significantly greater in XYY than in the general pop ...
... is expected . The tall stature is explained by the presence of additional copies of the SHOX gene (and possibly also other genes related to stature) in subjects with 47,XYY. A severe cystic acne may develop during adolescence. Asthma prevalence is significantly greater in XYY than in the general pop ...
Male-to-male transmission of X-linked Alport syndrome in a
... Alport syndrome (AS) is a genetically heterogeneous renal hereditary disease. Male-to-male transmission has been considered fully indicative of autosomal dominant AS. We report a family with male-to-male transmission of X-linked AS due to an extra X chromosome of paternal origin in the proband. Link ...
... Alport syndrome (AS) is a genetically heterogeneous renal hereditary disease. Male-to-male transmission has been considered fully indicative of autosomal dominant AS. We report a family with male-to-male transmission of X-linked AS due to an extra X chromosome of paternal origin in the proband. Link ...
Ventricular Precontracting Area in the Wolff- Parkinson
... and R are premature excitation of a ventricular area and an exceptionally slow transmyocardial conduction of the impulse, before it reaches the Purkinje network, and hence the whole of the myocardium.1 It has been experimentally verified that such conduction may occur in a peculiar way in a few limi ...
... and R are premature excitation of a ventricular area and an exceptionally slow transmyocardial conduction of the impulse, before it reaches the Purkinje network, and hence the whole of the myocardium.1 It has been experimentally verified that such conduction may occur in a peculiar way in a few limi ...
Autism-lessons from the X chromosome
... mind’. This has been measured by the ability to infer a person’s emotional state from looking at photographs of their eye regions and from the ability to attribute mental states to animated shapes (Frith, 2003). Comparatively, the deficit in ‘reading the mind from the eyes’ is more severe in women w ...
... mind’. This has been measured by the ability to infer a person’s emotional state from looking at photographs of their eye regions and from the ability to attribute mental states to animated shapes (Frith, 2003). Comparatively, the deficit in ‘reading the mind from the eyes’ is more severe in women w ...
Löffler`s Endocarditis: First Report of Successful Mitral and
... HES can be further sub-classified as primary, secondary, or complex.4 Primary HES results from underlying stem cell, myeloid, or eosinophilic neoplasm causing clonal expansion. Secondary HES is a reactive type of HE caused by parasites or lymphomas, etc., causing an overproduction of eosinophilopo ...
... HES can be further sub-classified as primary, secondary, or complex.4 Primary HES results from underlying stem cell, myeloid, or eosinophilic neoplasm causing clonal expansion. Secondary HES is a reactive type of HE caused by parasites or lymphomas, etc., causing an overproduction of eosinophilopo ...
030424 A Mutation of PCDH15 among Ashkenazi Jews with the
... chromosomal regions by genetic-linkage studies,2,3 and the causative genes have been identified for five of them.4-10 Several rare genetic disorders in Ashkenazi Jews are associated with prevalent founder mutations segregating in this population.11-15 A reduction in the incidence of such disorders i ...
... chromosomal regions by genetic-linkage studies,2,3 and the causative genes have been identified for five of them.4-10 Several rare genetic disorders in Ashkenazi Jews are associated with prevalent founder mutations segregating in this population.11-15 A reduction in the incidence of such disorders i ...
16 (2), 2013 85-90 DOUBLE ANEUPLOIDY 48,XXY,+21
... Diagnosis and Therapy of Neonatal Diseases, Hangzhou, People’s Republic of China ...
... Diagnosis and Therapy of Neonatal Diseases, Hangzhou, People’s Republic of China ...
Pleural effusions in an overlap ... hypereosinophilic syndrome and erythema
... The patient's pleural fluid was an exudate with 20% eosinophils. Although the findings on pleural biopsy were nonspecific, the pleural fluid eosinophilia and the rapid disappearance of the effusions with corticosteroids indicate that the pleural involvement was part of HES. Pulmonary infiltrates, tr ...
... The patient's pleural fluid was an exudate with 20% eosinophils. Although the findings on pleural biopsy were nonspecific, the pleural fluid eosinophilia and the rapid disappearance of the effusions with corticosteroids indicate that the pleural involvement was part of HES. Pulmonary infiltrates, tr ...
Chemistry Problem Solving Drill
... affected and defects in structural genes are common. It is often pleiotropic, in many cases clinical presentation occurs at puberty. C. Incorrect! In mitochondrial inheritance transmission is only through the mother and all offspring may show signs of disease. Due to heteroplasmy there may be variab ...
... affected and defects in structural genes are common. It is often pleiotropic, in many cases clinical presentation occurs at puberty. C. Incorrect! In mitochondrial inheritance transmission is only through the mother and all offspring may show signs of disease. Due to heteroplasmy there may be variab ...
Cytogenetics: Karyotypes and Chromosome Aberrations
... 6.4 Variations in Chromosome Number Changes in chromosome number or chromosome structure can cause genetic disorders Two major types of chromosomal changes can be detected in a karyotype • A change in chromosomal number • A change in chromosomal arrangement ...
... 6.4 Variations in Chromosome Number Changes in chromosome number or chromosome structure can cause genetic disorders Two major types of chromosomal changes can be detected in a karyotype • A change in chromosomal number • A change in chromosomal arrangement ...
Cells, Development, Chromosomes
... 47, trisomy-21, Down syndrome, is the most common autosomal aneuploidy. Chromosome 21 is the smallest chromosome. Down syndrome was first described by Dr. John Langdon Down in the 1860’s, long before its cause was found (in 1959). People with Down syndrome have significant intellectual disabilities, ...
... 47, trisomy-21, Down syndrome, is the most common autosomal aneuploidy. Chromosome 21 is the smallest chromosome. Down syndrome was first described by Dr. John Langdon Down in the 1860’s, long before its cause was found (in 1959). People with Down syndrome have significant intellectual disabilities, ...
Chromosome Variations
... **9. In mammals, sex chromosome aneuploids are more common than autosomal aneuploids, but in fish, sex chromosome aneuploids and autosomal aneuploids occur with equal frequency. Offer an explanation for these differences between mammals and fish. ***10. A young couple is planning to have children. K ...
... **9. In mammals, sex chromosome aneuploids are more common than autosomal aneuploids, but in fish, sex chromosome aneuploids and autosomal aneuploids occur with equal frequency. Offer an explanation for these differences between mammals and fish. ***10. A young couple is planning to have children. K ...
Cancer Prone Disease Section Noonan syndrome Atlas of Genetics and Cytogenetics
... bias is operative for offspring who inherit the defect. This bias favors males by a factor of 2:1. The available data point to this bias being attributable to sex-specific developmental effects of PTPN11 mutations that favor survival of affected male embryos compared to female ones. ...
... bias is operative for offspring who inherit the defect. This bias favors males by a factor of 2:1. The available data point to this bias being attributable to sex-specific developmental effects of PTPN11 mutations that favor survival of affected male embryos compared to female ones. ...
Epidermal nevus syndrome: An unusual cerebellar
... are the most abundant neurons in the cerebellum, their developmental course is thought to determine the size and patterns of the folia and fissures. In addition to these changes, other systems may also be affected. Musculoskeletal changes are often found, with hemicorporal segmental hypertrophy (most ...
... are the most abundant neurons in the cerebellum, their developmental course is thought to determine the size and patterns of the folia and fissures. In addition to these changes, other systems may also be affected. Musculoskeletal changes are often found, with hemicorporal segmental hypertrophy (most ...
Effect of digoxin, verapamil, and amiodarone
... Four patients were maintained on oral digoxin and one on oral verapamil with no recurrences. Seventeen patients (11 infants) had recurrent attacks. Four such patients were on oral digoxin. Six patients (3 infants, 3 children) were on oral verapamil. Therapeutic failures were encountered in 3 childre ...
... Four patients were maintained on oral digoxin and one on oral verapamil with no recurrences. Seventeen patients (11 infants) had recurrent attacks. Four such patients were on oral digoxin. Six patients (3 infants, 3 children) were on oral verapamil. Therapeutic failures were encountered in 3 childre ...
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.