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Author: Arabella Smith (14)


Jan
2017

Although Prader-Willi syndrome (PWS) is a well-described clinical dysmorphic syndrome, DNA testing is required for a definitive diagnosis. A definitive diagnosis can be made in approximately 99% of cases using DNA testing; there are a number of DNA tests that can be used for this purpose, although there is no set standard algorithm of testing. The dilemma arises because of the complex genetic mechanisms at the basis of PWS, which need to be elucidated.

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Jun
2015

Individuals with Prader-Willi syndrome (PWS) are commonly restricted to 60-75% of height-appropriate calorie intake because they rapidly become obese on a normal diet. This study measured changes in energy expenditure, glucose and lipid homeostasis, and metabolic flexibility in response to a meal in PWS adults.
11 adults with PWS were compared with 12 adiposity-matched and 10 lean subjects.

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Jul
2013

Individuals with Prader-Willi syndrome (PWS) have a high cardiovascular risk, the mechanism of which is unclear. There may be dysfunction in the autonomic nervous system (ANS) in PWS.
To measure, as indicators of cardiac autonomic function, postprandial heart rate variability (HRV) and arterial stiffness in adults with PWS.

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Jan
2008

Complete hematopoietic chimerism and tolerance of a liver allograft from a deceased male donor developed in a 9-year-old girl, with no evidence of graft-versus-host disease 17 months after transplantation. The tolerance was preceded by a period of severe hemolysis, reflecting partial chimerism that was refractory to standard therapies. The hemolysis resolved after the gradual withdrawal of all immunosuppressive therapy.

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Aug
2007

Pleomorphic adenoma (PA), a benign mixed salivary gland tumor, has been associated with abnormal karyotypes in up to 70% of cases, with nonrandom involvement of 8q12, the locus of the pleomorphic adenoma (PLAG1) gene. In this study, cytogenetics and fluorescence in situ hybridization (FISH) were used to investigate PLAG1 involvement in PA from seven patients. There were two males and five females ranging in age from 25 to 65 years.

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Apr
2006

We report the cases of three adults with acute lymphoblastic leukemia (ALL) who had a dic(7;9)(p11.2;p11) on the diagnostic bone marrow cytogenetic analysis. All three were males with B-ALL (aged 25, 38, and 48 years) who at presentation had 90-100% replacement of marrow with lymphoblasts.

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May
2006

Persons with Prader-Willi syndrome have been known to have a high mortality rate. However, intellectual disability, which usually accompanies Prader-Willi syndrome, is also associated with a higher mortality rate than in the general population. In this study, the death rates in a longitudinal cohort of people with Prader-Willi syndrome are compared with those for an epidemiologically derived control sample of people with intellectual disability from other causes.

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Mar
2006

Double minutes (dmin)-circular, extra-chromosomal amplifications of specific acentric DNA fragments-are relatively frequent in malignant disorders, particularly in solid tumors. In acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS), dmin are observed in approximately 1% of the cases. Most of them consist of an amplified segment from chromosome band 8q24, always including the MYC gene.

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Feb
2003

From among the many suspected patients with Prader-Willi (PWS) or Angelman (AS) syndromes received for diagnosis in a routine genetics laboratory, we present our protocol for the exclusion of a possible, rare imprinting centre (IC) defect. Deletion detection utilising two FISH probes-SNRPN within the IC, and another probe outside the IC, on the same suspension remaining from the cytogenetic harvest, provides a simple, quick and cost-effective system for exclusion of an IC defect, for patients with an abnormal methylation analysis.

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Dec
2002

Laboratory-based reports of the cytogenetic abnormalities detected during the course of testing for deletion del(22q) are scant. We report our findings from the testing with FISH of 462 patients suspected to have del(22q) between 1994 and 2000. Of these, 447 had a normal karyotype.

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Dec
2002

Shwachman Diamond syndrome (SDS) is a genetic disorder characterized by pancreatic hypoplasia, recurrent infection and bone marrow dysfunction. Some cases have an abnormality of chromosome 7, such as isochromosome 7q (i(7q)), which may be associated with the development of leukemia. We present a boy who was diagnosed with SDS at 19 months of age.

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