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Abnormalities, Multiple/ pathology
Abnormalities, Multiple/ pathology
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The aim of this study was to investigate the hypothesise of increased cell death in adriamycin-exposed embryos
Abstract:
The adriamycin rat model (ARM) exhibits many features of the VACTERL association. Adriamycin is a cytotoxic drug used in cancer chemotherapy. Although its exact mode of action is not clear, it is presumed to have a similar cytotoxic role in the developing embryo. Lysotracker red (LT) is a dye that stains phagolysosomes and apoptotic bodies and allows entire rodent embryos to be stained more...
Categories:
adriamycin-exposed embryos; increased cell death;
Geography:
Republic of Ireland
Pediatr Surg Int,
Vol: 18 Page: 576-80 October 2002
J. Gillick; S. Giles; J. Bannigan; P. Puri
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This case report discusses Kabuki Syndrome with a confirmed diagnosis of a low grade fibromyxoid sarcoma.
International Classification:
Syndrome
Categories:
Kabuki syndrome
Geography:
Republic of Ireland
Clin Dysmorphol,
Vol: 17 Page: 199-202 July 2008
R. Shahdadpuri; A. O'Meara; M. O'Sullivan; W. Reardon
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The aim of this study was to examine small- and large-bowel specimens of three newborn infants presenting with the clinical and radiological symptoms of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS)
Abstract:
We investigated small- and large-bowel specimens of three newborn infants presenting with the clinical and radiological symptoms of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS). Conventional histological staining revealed marked thinning of the longitudinal muscle layer. Electron-microscopic investigations showed typical "central core" vacuolic more...
International Classification:
Syndrome - megacystis-microcolon-intestinal hypoperistalsis
Categories:
megacystis-microcolon-intestinal hypoperistalsis syndrome
Geography:
Republic of Ireland
Pediatr Surg Int,
Vol: 18 Page: 2-5 January 2002
U. Rolle; S. O'Briain; R. H. Pearl; P. Puri
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This case report discusses a 3-year-old girl with severe microgastria and total amelia who has been managed conservatively with minimal surgical intervention.
Abstract:
The Microgastria-limb reduction anomaly is a rare disorder of unknown aetiology in which microgastria is associated with limb defects, along with splenic and other variable congenital abnormalities. In 15 previously reported cases, none have had the most extreme form of amelia. We report the clinical progress of a 3-year-old girl with severe microgastria and total amelia who has been more...
International Classification:
Other - microgastria
Categories:
microgastria
Geography:
Northern Ireland
Clin Dysmorphol,
Vol: 11 Page: 187-90 July 2002
C. Stewart; M. Stewart; F. Stewart
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This case report discusses a 3 year old boy with Septo-optic dysplasia and digital anomalies
Abstract:
A distinct form of septo-optic dysplasia (SOD) comprises limb malformations in addition to the characteristic CNS and ocular abnormalities. To date, there have been 4 reports, citing 5 affected patients with this combined phenotype. We now add a further case and present neuroradiological images of the CNS findings in this condition. The striking consistency of the limb malformations and more...
International Classification:
Diseases of the eye and adnexa - Report
Categories:
Septo-optic dysplasia
Geography:
Republic of Ireland
Am J Med Genet A,
Vol: 131 Page: 82-5 November 2004
I. M. Harrison; D. Brosnahan; E. Phelan; R. J. Fitzgerald; W. Reardon
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