Disorders of oral cavity
... • Ranula - large, bluish, translucent fluctuant mass in the floor of the mouth due to obstruction of the submandibular and or sublingual duct • Diffuse parotid gland enlargement acute mononucleosis, HIV infection ...
... • Ranula - large, bluish, translucent fluctuant mass in the floor of the mouth due to obstruction of the submandibular and or sublingual duct • Diffuse parotid gland enlargement acute mononucleosis, HIV infection ...
Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects.
... of congenital GI defects in a population-based sample of 1892 live-born infants with DS and presents several observations related to maternal age, race, infant sex and the presence of heart defects. A limitation of this study is that we did not include pregnancy losses, terminations or stillbirths. ...
... of congenital GI defects in a population-based sample of 1892 live-born infants with DS and presents several observations related to maternal age, race, infant sex and the presence of heart defects. A limitation of this study is that we did not include pregnancy losses, terminations or stillbirths. ...
Linking Cognitive Neuroscience and Molecular Genetics: New Perspectives from Williams... Ursula Bellugi and Marie St. George (Eds.)
... what would turn out to be one of the hallmarks of the syndrome: A dissociation between visuospatial and language abilities (see Figure 1). Her drawing of an elephant was unrecognizable without the verbal labels we added as she talked her way through the drawing. In contrast, her description of an el ...
... what would turn out to be one of the hallmarks of the syndrome: A dissociation between visuospatial and language abilities (see Figure 1). Her drawing of an elephant was unrecognizable without the verbal labels we added as she talked her way through the drawing. In contrast, her description of an el ...
Bahrain Medical Bulletin, Vol.22, No.1, March 2000
... venous drainage5, obstruction of one of the major pulmonary vein and development of a distended intrapulmonary collateral may produce a Scimitar shadow10. The etiology of Scimitar syndrome is unclear but is thought to represent a fundamental abnormality in pulmonary development, mainly involving the ...
... venous drainage5, obstruction of one of the major pulmonary vein and development of a distended intrapulmonary collateral may produce a Scimitar shadow10. The etiology of Scimitar syndrome is unclear but is thought to represent a fundamental abnormality in pulmonary development, mainly involving the ...
Marfan syndrome. Part 1: pathophysiology and diagnosis
... most mutations that cause neonatal Marfan syndrome (the most severe form of the disease) are usually located in this region.6 the majority of mutations in FBN1 are missense mutations that alter a single amino acid out of the 2,871 amino acids that constitute the protein, usually in the epidermal gro ...
... most mutations that cause neonatal Marfan syndrome (the most severe form of the disease) are usually located in this region.6 the majority of mutations in FBN1 are missense mutations that alter a single amino acid out of the 2,871 amino acids that constitute the protein, usually in the epidermal gro ...
clinical evaluation and laboratory testing
... depolarizations and fatal arrhythmias. A distinguishing feature is that QTc, though greater than average in groups tested, is inconsistently prolonged.23,38 The relatively small minK gene, mutations in which cause LQT5, is 40 kb in length. The encoded KCNE1 protein contains a single transmembrane s ...
... depolarizations and fatal arrhythmias. A distinguishing feature is that QTc, though greater than average in groups tested, is inconsistently prolonged.23,38 The relatively small minK gene, mutations in which cause LQT5, is 40 kb in length. The encoded KCNE1 protein contains a single transmembrane s ...
Sudden cardiac death in the young: causes and prevention
... Europe. Currently, the American Heart Association recommends that history and physical examination alone should constitute basic preparticipation screening of young athletes, while ECG testing remains optional.34 However, in Italy a landmark study26 showed that a screening programme consisting of hi ...
... Europe. Currently, the American Heart Association recommends that history and physical examination alone should constitute basic preparticipation screening of young athletes, while ECG testing remains optional.34 However, in Italy a landmark study26 showed that a screening programme consisting of hi ...
Developmental and Genetic Diseases
... The cells that form 2-cell and 4-cell embryos (blastomeres) are developmentally equipotent: each can give rise to an adult organism. Separation of embryonic cells at this stage results in identical twins or quadruplets. Since the blastomeres are equipotent and interchangeable, loss of a single blast ...
... The cells that form 2-cell and 4-cell embryos (blastomeres) are developmentally equipotent: each can give rise to an adult organism. Separation of embryonic cells at this stage results in identical twins or quadruplets. Since the blastomeres are equipotent and interchangeable, loss of a single blast ...
Information for General Practitioners and Clinicians
... case definition for the disease known as myalgic encephalomyelitis/chronic fatigue syndrome, making it compulsory that in order to be diagnosed with ME/CFS, a patient must become symptomatically ill after exercise and must also have neurological, neurocognitive, neuroendocrine, dysautonomic, and imm ...
... case definition for the disease known as myalgic encephalomyelitis/chronic fatigue syndrome, making it compulsory that in order to be diagnosed with ME/CFS, a patient must become symptomatically ill after exercise and must also have neurological, neurocognitive, neuroendocrine, dysautonomic, and imm ...
How imprinting is relevant to human disease - Development
... least a major part of the chromosome as recognized through DNA studies) from their mothers. Their fathers do not appear from haplotype analysis to be carriers of cystic fibrosis. Non-paternity has been excluded by identification of DNA markers on other chromosomes demonstrating that these children a ...
... least a major part of the chromosome as recognized through DNA studies) from their mothers. Their fathers do not appear from haplotype analysis to be carriers of cystic fibrosis. Non-paternity has been excluded by identification of DNA markers on other chromosomes demonstrating that these children a ...
Часть 1. - Ассоциация синдрома Ретта
... suggested that the de novo X-linked mutations occurred exclusively in male germ cells and resulted in affected daughters.7 Under such a hypothesis, the absence of affected males is explained by the fact that sons do not inherit their X chromosome from their fathers. To test this hypothesis, we have ...
... suggested that the de novo X-linked mutations occurred exclusively in male germ cells and resulted in affected daughters.7 Under such a hypothesis, the absence of affected males is explained by the fact that sons do not inherit their X chromosome from their fathers. To test this hypothesis, we have ...
Marfan Syndrome Guide
... In most cases, Marfan syndrome is inherited. The pattern is called “autosomal dominant,” meaning it occurs equally in men and women and can be inherited from just one parent with Marfan syndrome. People who have Marfan syndrome have a 50 percent chance of passing along the disorder to each of their ...
... In most cases, Marfan syndrome is inherited. The pattern is called “autosomal dominant,” meaning it occurs equally in men and women and can be inherited from just one parent with Marfan syndrome. People who have Marfan syndrome have a 50 percent chance of passing along the disorder to each of their ...
Homework: Karyotyping Activity
... Predict: What could cause someone to have missing or damaged chromosomes? ...
... Predict: What could cause someone to have missing or damaged chromosomes? ...
Late-onset central hypoventilation syndrome: a family genetic study
... daughters (aged 6 and 4 yrs). All were asymptomatic, had no clinical features of autonomic nervous system dysfunction, no past medical history and had normal pulmonary function tests. Arterial blood gas analysis and overnight sleep studies revealed evidence of nocturnal hypoventilation in the father ...
... daughters (aged 6 and 4 yrs). All were asymptomatic, had no clinical features of autonomic nervous system dysfunction, no past medical history and had normal pulmonary function tests. Arterial blood gas analysis and overnight sleep studies revealed evidence of nocturnal hypoventilation in the father ...
Diagnosis and differential diagnosis of Asperger syndrome
... Autism shares the same DSM criteria for abnormal social interaction and behaviour as Asperger disorder, but requires additional impairments in communication (Box 3). Delay or impairment in social interaction, communication or behaviour must arise before age 3 years. In DSM–IV, if both autism and Asp ...
... Autism shares the same DSM criteria for abnormal social interaction and behaviour as Asperger disorder, but requires additional impairments in communication (Box 3). Delay or impairment in social interaction, communication or behaviour must arise before age 3 years. In DSM–IV, if both autism and Asp ...
Marfan syndrome in the third Millennium
... 1/5000 with probably over 25 % of sporadic cases. The syndrome involves many systems (skeletal, ocular, cardiovascular, pulmonary, skin and integument, and dura) but its more prominent manifestations are skeletal, ocular and cardiovascular. In 1986, an international group of experts agreed upon diag ...
... 1/5000 with probably over 25 % of sporadic cases. The syndrome involves many systems (skeletal, ocular, cardiovascular, pulmonary, skin and integument, and dura) but its more prominent manifestations are skeletal, ocular and cardiovascular. In 1986, an international group of experts agreed upon diag ...
Marfan syndrome
... and cardiovascular. In 1986, an international group of experts agreed upon diagnostic criteria ...
... and cardiovascular. In 1986, an international group of experts agreed upon diagnostic criteria ...
Diagnosis and Treatment of Sick Sinus Syndrome -
... Sick sinus syndrome comprises a variety of conditions involving sinus node dysfunction and commonly affects elderly persons. While the syndrome can have many causes, it usually is idiopathic. Patients may experience syncope, pre-syncope, palpitations, or dizziness; however, they often are asymptomat ...
... Sick sinus syndrome comprises a variety of conditions involving sinus node dysfunction and commonly affects elderly persons. While the syndrome can have many causes, it usually is idiopathic. Patients may experience syncope, pre-syncope, palpitations, or dizziness; however, they often are asymptomat ...
Silent and Malignant Early Repolarization Syndrome Mimicking
... 6. Cay S, Cagirci G, Atak R, et al. Heart rate profile during exercise in patients with early repolarization. Chin Med J (Engl) 2010;123: ...
... 6. Cay S, Cagirci G, Atak R, et al. Heart rate profile during exercise in patients with early repolarization. Chin Med J (Engl) 2010;123: ...
Female Male Human chromosomal abnormalities may be numerical
... (in 40% of affected individuals), increased risk of leukemia (cancer of white blood cells), increased risk of cataracts (clouding of lens of eye), premature aging. For more information on all aspects of Down syndrome, see a fantastic web site maintained by a pediatrician with a son with Down Syndrom ...
... (in 40% of affected individuals), increased risk of leukemia (cancer of white blood cells), increased risk of cataracts (clouding of lens of eye), premature aging. For more information on all aspects of Down syndrome, see a fantastic web site maintained by a pediatrician with a son with Down Syndrom ...
062002 Abnormal Subendocardial Perfusion in Cardiac
... have normal coronary angiograms.1 A subgroup of these patients, who also have classic downsloping ST-segment depression on exercise testing, are classified as having cardiac syndrome X.2 The exact pathophysiological mechanisms underlying this condition are not well understood, and many mechanisms fo ...
... have normal coronary angiograms.1 A subgroup of these patients, who also have classic downsloping ST-segment depression on exercise testing, are classified as having cardiac syndrome X.2 The exact pathophysiological mechanisms underlying this condition are not well understood, and many mechanisms fo ...
Familial spontaneous pneumothorax and mutation CASE STUDY
... Mutations in FLCN cause the BHD syndrome and mutations have been identified along the entire length of the gene (exons 4, 5, 6, 7, 9, 11, 12, 13 and 14) [4]. The isolated pneumothorax phenotype has previously been reported in association with mutations on exon 4 [5] and exons 9 and 12 [6]. It is pos ...
... Mutations in FLCN cause the BHD syndrome and mutations have been identified along the entire length of the gene (exons 4, 5, 6, 7, 9, 11, 12, 13 and 14) [4]. The isolated pneumothorax phenotype has previously been reported in association with mutations on exon 4 [5] and exons 9 and 12 [6]. It is pos ...
Case Report Clinical Expression of an Inherited Unbalanced
... reported in number of cases with involvement of many other autosomes or sex chromosomes [3, 16, 17]. In all such inherited cases, some other rearranged chromosome was always present mostly as monosomy. Therefore, the phenotypic manifestation is always contributed jointly by monosomy and trisomy of t ...
... reported in number of cases with involvement of many other autosomes or sex chromosomes [3, 16, 17]. In all such inherited cases, some other rearranged chromosome was always present mostly as monosomy. Therefore, the phenotypic manifestation is always contributed jointly by monosomy and trisomy of t ...
Ablation of the Epicardial Substrate in the Right Ventricular Outflow
... after ablation (Fig. 1). His resting ECG showed a type II pattern, which did not change after administration of ajmaline, thus ablation prevented this response. Brugada syndrome is associated with a high risk of SCD and the cornerstone of therapy is currently implantation of an ICD.1,4 Radiofrequenc ...
... after ablation (Fig. 1). His resting ECG showed a type II pattern, which did not change after administration of ajmaline, thus ablation prevented this response. Brugada syndrome is associated with a high risk of SCD and the cornerstone of therapy is currently implantation of an ICD.1,4 Radiofrequenc ...
Males with MECP2 Mutations
... Because these males have two copies of the X chromosome and undergo the same process of X inactivation that is seen in females, these males present with a clinical presentation that is very consistent with the classic Rett syndrome presentation. These males, will in addition to having the clinical f ...
... Because these males have two copies of the X chromosome and undergo the same process of X inactivation that is seen in females, these males present with a clinical presentation that is very consistent with the classic Rett syndrome presentation. These males, will in addition to having the clinical f ...
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.