First-trimester serum marker distribution in singleton pregnancies conceived with assisted reproduction
To evaluate marker distribution of free [beta]-human chorionic gonadotrophin (f[beta]-hCG) and pregnancy-associated plasma protein-A (PAPP-A) in singleton pregnancies conceived by assisted reproduction techniques (ART).In vitro fertilization (IVF) (n = 203) and intracytoplasmic sperm injection (ICSI) (n = 192) cases from a database of 14 645 first-trimester combined tests (overall study group) were selected and matched to 1164 controls for gestational age at sample date and maternal age.In the IVF group and ICSI group, lnPAPP-A was lower (IVF 6.74 vs 7.08; P = 0.0001; ICSI 6.59 vs 7.07; P = 0.0001) compared with the matched controls. Lnf[beta]-hCG was lower in the IVF group (3.75 vs 3.90; P = 0.005) but not significantly different in the ICSI group (3.87 vs 3.93; P = 0.27). The computed co......
POSTED 03/10/2010 at 06:00 PM --
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Co-occurrence of achondroplasia and Down syndrome: Genotype/phenotype association
This report describes the sixth case of an unusual association: Down syndrome with achondroplasia. It also analyzes the effects of both of these disorders on patient phenotype.A male infant was evaluated for Down syndrome. His appearance also suggested a diagnosis of achondroplasia. The child was evaluated by physical examination, radiography, cytogenetic study, and mutation analysis.Chromosome analysis showed a karyotype of 47,XY,+21 in all 30 cells analyzed. Radiographic examination showed typical findings of achondroplasia, such as disproportionately large skull, shortening oflimb segments, and lumbar lordosis. FGFR3 screening showed a heterozygous G1138A mutation.The interaction of these two distinct genetic disorders in the same patient produces a phenotype typical of each syndrome wi......
POSTED 03/10/2010 at 06:00 PM --
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Quantification of vocal tract configuration of older children with Down syndrome: A pilot study
Conclusion: Children with Down syndrome had smaller oral cavities, and smaller vocal tract volumes. No significant differences were found for pharyngeal length, pharyngeal volume, and vocal tract length between these two groups. (Source: International Journal of Pediatric Otorhinolaryngology)...
POSTED 03/09/2010 at 08:30 AM --
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Mortality After Total Cavopulmonary Connection in Children With the Down Syndrome
In conclusion, Down syndrome was found to be an independent parameter associated with a significantly higher risk for mortality in the early postoperative period after Fontan surgery. (Source: The American Journal of Cardiology)...
POSTED 03/09/2010 at 07:57 AM --
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'Have you had the test?' A discourse analysis of media presentation of prenatal screening in Iceland
Scand J Caring Sci; 2010;'Have you had the test?' A discourse analysis of media presentation of prenatal screening in Iceland Nuchal translucency (NT) screening has come to be widely used in antenatal care in many countries. In the capital area of Iceland, which is the focus of this study, 84% of pregnant women underwent screening in 2005. At the time no official policy had been formulated regarding the use of this screening, and very limited public discussion had taken place on the ethical issues related to its use. Although screening has been widely welcomed as a scientific and technological improvement, it may also have unintended consequences, both for practitioners and prospective parents, and for particular groups such as the disabled, which have not been fully explored. The purpose ......
POSTED 03/06/2010 at 06:00 PM --
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Ethnic differences in informed decision-making about prenatal screening for Down's syndrome
Conclusion
Women from ethnic minority groups less often made an informed decision whether or not to participate in prenatal screening. Interventions to decrease these ethnic differences should first of all be aimed at overcoming language barriers and increasing comprehension among women with a low education level. To further develop diversity-sensitive strategies for counselling, it should be investigated how women from different ethnic backgrounds value informed decision-making in prenatal screening, what decision-relevant knowledge they need and what they take into account when considering participation in prenatal screening. (Source: Journal of Epidemiology and Community Health)...
POSTED 03/04/2010 at 08:28 AM --
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The impact of tissue harmonic on the measurement of nuchal translucency thickness.
CONCLUSION : THI leads to a small but significant reduction of the NT measurement and this could reduce the sensitivity of the screening for Down syndrome. Copyright (c) 2010 ISUOG. Published by John Wiley & Sons, Ltd.
PMID: 20205154 [PubMed - as supplied by publisher] (Source: The Ultrasound Review of Obstetrics and Gynecology)...
POSTED 03/03/2010 at 06:00 PM --
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DYRK1A Gene May Be One Of Most Influential Factors In Down's Syndrome
Persons with Down's syndrome usually have great problems with memory; this being precisely one of the characteristics which differentiates them from other people. Particularly notable is the poor capacity they have for retaining information received orally, but also that concerning visual-spatial memory should be taken into account. This topic has hardly been dealt with to date and Mr Azkona decided to take up the challenge. Starting with this differential phenomenon, he has little by little unravelled the problem until he came up with the DYRK1A gene... (Source: Health News from Medical News Today)...
POSTED 03/03/2010 at 05:00 AM --
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In Down's Syndrome DYRK1A Gene May Be One Of Most Influential Factors
Research undertaken in recent years on Down's syndrome has focused on the DYRK1A gene. The superexpression of this gene affects transmission in the neurones, according to Mr Garikoitz Azkona. In his PhD thesis, The molecular bases of neuropathology in Down's syndrome: the role of DYRK1A, Mr Azkona argues that this failure in neurone transmission could be behind the problem that persons with Down's syndrome have regarding visual-spatial memory... (Source: Health News from Medical News Today)...
POSTED 03/03/2010 at 02:00 AM --
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Over-Expression Of Gene Regulator Spurs Development Of Leukemia In Babies With Down Syndrome
Between 5 and 10 percent of babies with Down syndrome develop a transient form of leukemia that usually resolves on its own. However, for reasons that haven't been clear, 20 to 30 percent of these babies progress to a more serious leukemia known as Down syndrome acute megakaryoblastic leukemia (DS-AMKL), which affects the blood progenitor cells that form red blood cells and platelets. Now, researchers at Children's Hospital Boston have found a gene regulator they believe to be a key player in DS-AMKL, advancing understanding of how the disease develops and how to treat it... (Source: Health News from Medical News Today)...
POSTED 03/03/2010 at 02:00 AM --
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Over-Expression Of Gene Regulator Spurs Development Of Leukemia In Babies With Down Syndrome
Between 5 and 10 percent of babies with Down syndrome develop a transient form of leukemia that usually resolves on its own. However, for reasons that haven't been clear, 20 to 30 percent of these babies progress to a more serious leukemia known as Down syndrome acute megakaryoblastic leukemia (DS-AMKL), which affects the blood progenitor cells that form red blood cells and platelets... (Source: Lymphoma / Leukemia News From Medical News Today)...
POSTED 03/03/2010 at 02:00 AM --
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In Down's Syndrome DYRK1A Gene May Be One Of Most Influential Factors
Research undertaken in recent years on Down's syndrome has focused on the DYRK1A gene. The superexpression of this gene affects transmission in the neurones, according to Mr Garikoitz Azkona... (Source: Pediatrics News From Medical News Today)...
POSTED 03/03/2010 at 02:00 AM --
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Informational Digest Bulletin From San Raffaele Foundation and Tosinvest Sanità (No. 21). A New Quantitative Approach of the Evaluation of "Tonic" Cortical EEG Rhythms in Adults With Down Syndrome and in Adults With an Impairment of Awareness—Persistent Vegetative State (PVS)
(Source: Journal of Policy and Practice in Intellectual Disabilities)...
POSTED 03/02/2010 at 06:00 PM --
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Searching for the Hebb effect in Down syndrome: evidence for a dissociation between verbal short-term memory and domain-general learning of serial order
Conclusions These studies suggest that the Hebb effect is essentially preserved within Down syndrome, implying that explicit verbal short-term memory is dissociable from potentially more implicit Hebb learning. The relative strength in receptive vocabulary observed in Down syndrome may therefore be supported by largely intact long-term as opposed to short-term serial order learning. This in turn may have implications for teaching methods and interventions that present new phonological material to individuals with Down syndrome. (Source: Journal of Intellectual Disability Research)...
POSTED 03/02/2010 at 06:00 PM --
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Gene may be among most influential factors in Down syndrome
Research undertaken in recent years on Down syndrome has focused on the DYRK1A gene. The super-expression of this gene affects transmission in the neurons, according to a new study. (Source: ScienceDaily Headlines)...
POSTED 03/01/2010 at 10:00 PM --
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Down Syndrome Leukemia and Cancer
Key player found for a cancer typical in Down syndrome - Over-expression of gene regulator spurs development of leukemia in babies with Down syndrome. (Source: Disabled World)...
POSTED 03/01/2010 at 08:19 PM --
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Key player found for a cancer typical in Down syndrome
(Children's Hospital Boston) Between five and 10 percent of babies with Down syndrome develop a transient form of leukemia that usually resolves on its own. However, for reasons that haven't been clear, 20-30 percent of these babies progress to a more serious leukemia known as Down syndrome acute megakaryoblastic leukemia, which affects the blood progenitor cells that form red blood cells and platelets. (Source: EurekAlert! - Medicine and Health)...
POSTED 02/28/2010 at 11:00 PM --
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DYRK1A gene may be 1 of most influential factors in Down syndrome
(Elhuyar Fundazioa) Research undertaken in recent years on Down syndrome has focused on the DYRK1A gene. The super-expression of this gene affects transmission in the neurons, according to Garikoitz Azkona. (Source: EurekAlert! - Social and Behavioral Science)...
POSTED 02/28/2010 at 11:00 PM --
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Executive function in adolescents with Down Syndrome
Conclusions The results suggest a broad impairment in EF in adolescents with DS, and are consistent with several similar studies conducted with adults with DS. We assume that EF deficit is a characteristic of DS. (Source: Journal of Intellectual Disability Research)...
POSTED 02/28/2010 at 06:00 PM --
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QR Pharma Receives US Patent 7,625,942 To Treat Down Syndrome
QR Pharma, Inc., a developer of novel drugs to treat Alzheimer's disease (AD), announced that it was issued U.S. Patent No. 7,625,942, a "Method of Treating Down Syndrome" by the U.S. Patent and Trademark Office. The '942 patent covers use of Posiphen and analogs to treat cognitive impairments associated with Down Syndrome (DS). This patent valuably expands upon the original Posiphen and analog patent that claims composition of matter and use of compounds to lower amyloid-β precursor protein (APP) and thereby treat dementia and Alzheimer's disease (AD)... (Source: Health News from Medical News Today)...
POSTED 02/26/2010 at 04:00 AM --
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