奇美醫學中心胸腔內,外,放射科臨床病例綜合討論會
... The syndrome may be autosomal dominant in inheritance with variable penetrance. It can be associated with the tetrad of Fallot, or truncus arteriosus. An atrial septal defect can be found in up to 25% of these children. Radiographically, the right hemithorax appears small with dextroposition of the ...
... The syndrome may be autosomal dominant in inheritance with variable penetrance. It can be associated with the tetrad of Fallot, or truncus arteriosus. An atrial septal defect can be found in up to 25% of these children. Radiographically, the right hemithorax appears small with dextroposition of the ...
奇美醫學中心胸腔內,外,放射科臨床病例綜合討論會
... The syndrome may be autosomal dominant in inheritance with variable penetrance. It can be associated with the tetrad of Fallot, or truncus arteriosus. An atrial septal defect can be found in up to 25% of these children. Radiographically, the right hemithorax appears small with dextroposition of the ...
... The syndrome may be autosomal dominant in inheritance with variable penetrance. It can be associated with the tetrad of Fallot, or truncus arteriosus. An atrial septal defect can be found in up to 25% of these children. Radiographically, the right hemithorax appears small with dextroposition of the ...
Atrial Septal Defect Coexistent with Sjögren`s Syndrome
... unknown. Unfortunately, there have been no previous reports citing the association of ASD with primary SS without polyendocrine syndrome. Therefore, in this interesting and unusual case, we suggest a possible association of ASD with primary SS. However, the published data on concrete association of ...
... unknown. Unfortunately, there have been no previous reports citing the association of ASD with primary SS without polyendocrine syndrome. Therefore, in this interesting and unusual case, we suggest a possible association of ASD with primary SS. However, the published data on concrete association of ...
Cancer Prone Disease Section Schöpf Schulz Passarge syndrome (SSPS)
... The mutation p.Phe228Ile appears to have a population frequency of ~0,5% and it has been estimated that approximately half of all individuals who are heterozygous for this missense mutation will manifest some form of ectodermal defects (Bohring et al., 2009). This equates to ~1 in 400 of the general ...
... The mutation p.Phe228Ile appears to have a population frequency of ~0,5% and it has been estimated that approximately half of all individuals who are heterozygous for this missense mutation will manifest some form of ectodermal defects (Bohring et al., 2009). This equates to ~1 in 400 of the general ...
99311 Brugada/JB3
... Abstract: We describe a 45-year-old Taiwanese man with specific features of Brugada syndrome but no clinical features of structural heart disease. He was successfully treated with an implantable cardioverter-defibrillator. His electrocardiogram (ECG) patterns changed intermittently. Alpha-adrenocept ...
... Abstract: We describe a 45-year-old Taiwanese man with specific features of Brugada syndrome but no clinical features of structural heart disease. He was successfully treated with an implantable cardioverter-defibrillator. His electrocardiogram (ECG) patterns changed intermittently. Alpha-adrenocept ...
Cancer Prone Disease Section Currarino syndrome Atlas of Genetics and Cytogenetics
... teratomas have appeared to be a different group in that they present in the posterior coccygeal region, are often sporadic, occur more commonly in females and commonly become malignant. Mutational analysis of the HLXB9 gene has been negative in a number of cases. This recent case is interesting as i ...
... teratomas have appeared to be a different group in that they present in the posterior coccygeal region, are often sporadic, occur more commonly in females and commonly become malignant. Mutational analysis of the HLXB9 gene has been negative in a number of cases. This recent case is interesting as i ...
Tudor – Down`s syndrome
... telomeric erosion, cell division would go haywire and all cells would be immortal, therefore cancerous. Essentially, telomeres are a very delicate regulatory mechanism in organisms (Nakagawa et al. 2004). Since telomeres act as time markers on a cellular lever, they often times offer a more adequate ...
... telomeric erosion, cell division would go haywire and all cells would be immortal, therefore cancerous. Essentially, telomeres are a very delicate regulatory mechanism in organisms (Nakagawa et al. 2004). Since telomeres act as time markers on a cellular lever, they often times offer a more adequate ...
Congenital adrenal hyperplasia syndrome and testicular
... Disorders of Male Sexual Differentiation • They are rare group of disorders • The defect may be in: • Androgen receptors (inactive androgen receptors target tissues cannot respond to stimulation by circulating testosterone; e.g., Testicular feminization syndrome) ...
... Disorders of Male Sexual Differentiation • They are rare group of disorders • The defect may be in: • Androgen receptors (inactive androgen receptors target tissues cannot respond to stimulation by circulating testosterone; e.g., Testicular feminization syndrome) ...
IOSR Journal of Dental and Medical Sciences (IOSR-JDMS)
... Evaluation of Serum Uric Acid and Serum Gamma Glutamyl Transferase in Patients with …. represents a useful and simple clinical concept which allows for earlier detection of type 2 diabetes and cardiovascular disease. The establishment of hypertension as a component of the syndrome has enabled bette ...
... Evaluation of Serum Uric Acid and Serum Gamma Glutamyl Transferase in Patients with …. represents a useful and simple clinical concept which allows for earlier detection of type 2 diabetes and cardiovascular disease. The establishment of hypertension as a component of the syndrome has enabled bette ...
Angelman Syndrome: Genotype, Phenotype and Differential
... • Present in 85% • Onset often 12-18 months • All seizure types • Difficult to control • Characteristic EEG in most but not all • Improve with age but may return • Cortical myoclonus ...
... • Present in 85% • Onset often 12-18 months • All seizure types • Difficult to control • Characteristic EEG in most but not all • Improve with age but may return • Cortical myoclonus ...
Determination of the molecular basis of Marfan syndrome: a growth
... the dominant-negative effect explained the phenotype (13). Some features of Marfan syndrome were, however, difficult to reconcile with this model. These features include long bone and rib overgrowth, and alterations in muscle growth and fat metabolism — effects not often considered to be consequence ...
... the dominant-negative effect explained the phenotype (13). Some features of Marfan syndrome were, however, difficult to reconcile with this model. These features include long bone and rib overgrowth, and alterations in muscle growth and fat metabolism — effects not often considered to be consequence ...
GENETIC TESTING REQUISITION Please ship
... I understand that a DNA specimen will be sent to LifeLabs for genetic testing. My physician has told me about the condition(s) being tested and its genetic basis. I am aware that correct information about the relationships between my family members is important. I agree that my specimen and personal ...
... I understand that a DNA specimen will be sent to LifeLabs for genetic testing. My physician has told me about the condition(s) being tested and its genetic basis. I am aware that correct information about the relationships between my family members is important. I agree that my specimen and personal ...
An unusual presentation of glomeruloid hemangioma in a patient
... vascular lesion, previously considered to be specifically associated with POEMS (polyneuropathy, organomegaly, endocrinopathy/edema, M-protein and skin abnormalities) syndrome. However, there are reports of solitary glomeruloid hemangioma in patients without POEMS syndrome. We report the case of a 3 ...
... vascular lesion, previously considered to be specifically associated with POEMS (polyneuropathy, organomegaly, endocrinopathy/edema, M-protein and skin abnormalities) syndrome. However, there are reports of solitary glomeruloid hemangioma in patients without POEMS syndrome. We report the case of a 3 ...
Sudden Death In the Structurally Normal Heart
... fibrosis electrical substrate that initiates and perpetuates ventricular tachycardia. ...
... fibrosis electrical substrate that initiates and perpetuates ventricular tachycardia. ...
Syndromic Craniosynostosis
... Poole cautions surgeons contemplating surgery on patients with Carpenter’s syndrome that they must beware of the venous and bony abnormalities attendant with this syndrome. The vascular anomalies may lead to excessive and rapid blood loss. ...
... Poole cautions surgeons contemplating surgery on patients with Carpenter’s syndrome that they must beware of the venous and bony abnormalities attendant with this syndrome. The vascular anomalies may lead to excessive and rapid blood loss. ...
Li Fraumeni Syndrome Summary - St. Jude Children`s Research
... • If the types of cancers match up with what might be observed in those with Li-Fraumeni syndrome. Doctors or genetic counselors who suspect Li-Fraumeni syndrome in a child or other family members will likely recommend genetic testing of TP53. Diagnostic testing If doctors or genetic counselors su ...
... • If the types of cancers match up with what might be observed in those with Li-Fraumeni syndrome. Doctors or genetic counselors who suspect Li-Fraumeni syndrome in a child or other family members will likely recommend genetic testing of TP53. Diagnostic testing If doctors or genetic counselors su ...
1. Methods
... Hristovski D, Kastrin A, Peterlin B, Rindflesch TC. Combining Semantic Relations and DNA Microarray Data for Novel Hypotheses Generation. In: BLASCHKE, Christian (ed), SHATKAY, Hagit (ed). Linking literature, information, and knowledge for biology. (Lecture notes in bioinformatics), pp. ...
... Hristovski D, Kastrin A, Peterlin B, Rindflesch TC. Combining Semantic Relations and DNA Microarray Data for Novel Hypotheses Generation. In: BLASCHKE, Christian (ed), SHATKAY, Hagit (ed). Linking literature, information, and knowledge for biology. (Lecture notes in bioinformatics), pp. ...
Cell Division Mitosis & Meiosis
... GENERAL CONCEPTS: Children born to older women show more chromosomal aberrations than children born to younger women Most major chromosomal abnormalities are incompatible w/ life Detectable by karyotyping (chromosomal analysis) w/ or w/o banding techniques (use of stains) ...
... GENERAL CONCEPTS: Children born to older women show more chromosomal aberrations than children born to younger women Most major chromosomal abnormalities are incompatible w/ life Detectable by karyotyping (chromosomal analysis) w/ or w/o banding techniques (use of stains) ...
Pierce Genetics: A Conceptual Approach 3e
... ALTER CHROMOSOME STRUCTURE • Inversions (depending on the involvement of ...
... ALTER CHROMOSOME STRUCTURE • Inversions (depending on the involvement of ...
Cultural-Specific Psychiatric Syndromes
... impotence). Symptoms are attributed to excessive semen loss from frequent intercourse, masturbation, nocturnal emission, or passing of "white turbid urine" believed to contain semen. Excessive semen loss is feared because it represents the loss of one's vital essence and can thereby be life threaten ...
... impotence). Symptoms are attributed to excessive semen loss from frequent intercourse, masturbation, nocturnal emission, or passing of "white turbid urine" believed to contain semen. Excessive semen loss is feared because it represents the loss of one's vital essence and can thereby be life threaten ...
Chapter 19: Human Genetics
... Ans: Individuals with Down syndrome have inherited three copies of chromosome number ...
... Ans: Individuals with Down syndrome have inherited three copies of chromosome number ...
Chapter 19: Human Genetics
... Ans: Individuals with Down syndrome have inherited three copies of chromosome number ...
... Ans: Individuals with Down syndrome have inherited three copies of chromosome number ...
Cardiometabolic Syndrome & Dr Dhafir A. Mahmood Dr. Nabil Sulaiman
... • Relationship between early life characteristics and susceptibility to NCD in adult hood ( Barker’s hypothesis) (Baker DJP,BMJ,1993) – Low birth weight associated with increased CVD – Poor infant growth and CVD relation ...
... • Relationship between early life characteristics and susceptibility to NCD in adult hood ( Barker’s hypothesis) (Baker DJP,BMJ,1993) – Low birth weight associated with increased CVD – Poor infant growth and CVD relation ...
17 Human Genetics
... 1. a. What is the inheritance pattern for this genetic disorder? The inheritance pattern is autosomal recessive. The two parents of generation I are unaffected, and yet, two daughters are affected. These observations rule out autosomal dominant and X-linked recessive. b. What is the genotype of the ...
... 1. a. What is the inheritance pattern for this genetic disorder? The inheritance pattern is autosomal recessive. The two parents of generation I are unaffected, and yet, two daughters are affected. These observations rule out autosomal dominant and X-linked recessive. b. What is the genotype of the ...
Chronic fatigue syndrome
... results have been disappointing. A few remedies — intramuscular magnesium for people with low red blood cell magnesium, a combination of fish oil and evening primrose oil, melatonin, NADH, propionyl-L-carnitine, and ribose — have shown encouraging results in preliminary studies. However, many of the ...
... results have been disappointing. A few remedies — intramuscular magnesium for people with low red blood cell magnesium, a combination of fish oil and evening primrose oil, melatonin, NADH, propionyl-L-carnitine, and ribose — have shown encouraging results in preliminary studies. However, many of the ...
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.