Quick testing developed for Down syndrome
TUCSON, Aug. 30 (UPI) -- A new battery of tests taking only 2 hours can assess the best drug and behavioral help for children with Down syndrome, U.S. researchers say.
Down syndrome - Genetic disorder - United States - Health - Conditions and Diseases (Source: Health News - UPI.com)...
POSTED 08/30/2010 at 01:05 AM --
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Bifocals in children with Down syndrome (BiDS) â visual acuity, accommodation and early literacy skills
Acta Ophthalmol. 2010: 88: e196âe204 (Source: Acta Ophthalmologica)...
POSTED 08/30/2010 at 12:39 AM --
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Series Of Cognitive Tests That May Aid In Better Understanding And Treating Of Down Syndrome
Neuroscientists in the Down Syndrome Research Group at the University of Arizona have created a battery of tests that quickly aid in the assessment of the cognitive abilities of persons with Down syndrome. The UA collaborated on the development of the tests with colleagues at Johns Hopkins University and Emory University. The tests - a series of computer exercises that are not language dependent - offer clinicians and other researchers a new tool that can help determine both the developmental trajectory of those with Down syndrome and aid in devising drug and behavioral interventions... (Source: Health News from Medical News Today)...
POSTED 08/28/2010 at 04:00 AM --
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Down Syndrome group slams Emmys
The National Down Syndrome Congress of the U.S. is taking Emmy organizers to task for nominating the song Down Syndrome Girl for an award for outstanding original music and lyrics. (Source: CBC | Health)...
POSTED 08/27/2010 at 01:58 PM --
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Coping with dementia and older families of adults with Down syndrome
The authors studied a group of older carers of aging adults with Down syndrome (DS) to ascertain what effects such caregiving may have on them given the presence or possibility of age-associated decline or dementia. The study also examined the comparative levels of care provided, key signs noted when decline was beginning, the subjective burden experienced, and what were the key associated health factors when carers faced a changed level of care. The authors found that this group was made up of long-term, committed carers who have decided early on to look after their relative with DS over their lifetime. When faced with the onset and ongoing progression of dementia, their commitment was still evident as evidenced by adopting physical accommodations and finding ways to continue to provide c......
POSTED 08/26/2010 at 05:26 AM --
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Genetic Analysis of Baker's Yeast Msh4-Msh5 Reveals a Threshold Crossover Level for Meiotic Viability
Author Summary
In meiosis, sex cells that become eggs or sperm undergo a single round of DNA replication followed by two consecutive chromosomal divisions. In most organisms, the segregation of chromosomes at the first meiotic division is dependent upon at least one genetic exchange, or crossover event, between homologous chromosome pairs. Matched chromosomes that do not receive a crossover frequently undergo non-disjunction at the first meiotic division, yielding gametes that lack chromosomes or contain additional copies. Such missegregation events have been linked to Down syndrome and human infertility. This paper focuses on Msh4-Msh5, a complex required for the proper segregation of homologous chromosomes during the Meiosis I division. We performed a mutational analysis of the baker's ......
POSTED 08/25/2010 at 06:00 PM --
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Cell Division Study Sheds Light On Special Mechanism In Egg Cells
In a study of egg cells using time-lapse microscopy, researchers at the University of California, San Diego School of Medicine and the Ludwig Institute for Cancer Research have discovered an unusual property of meiosis - cell division that produces reproductive cells in sexually reproducing organisms. The discovery of an "inside out" mechanism by which egg cell chromosomes separate from each other may shed light on mistakes made in chromosome distribution that can lead to Down syndrome, high miscarriage rates in humans, and the age-related decrease in fertility in human females... (Source: Health News from Medical News Today)...
POSTED 08/25/2010 at 02:00 AM --
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UA Researchers Create Tests to Assess Down Syndrome
The Arizona Cognitive Test Battery, designed by UA psychologists Lynn Nadel and Jamie Edgin, can quickly and easily assess the cognitive abilities of persons with Down syndrome. It gives clinicians and other researchers a tool to help determine the life trajectory of those with the genetic disorder as well as aid in the development of treatments. (Source: Health)...
POSTED 08/25/2010 at 02:00 AM --
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Stem Cell Ruling Stops Federal Disease Studies
Researchers Experimenting with Treatments for Down Syndrome, Childhood Leukemia Examine Judge's Ruling (Source: Health News: CBSNews.com)...
POSTED 08/24/2010 at 06:19 PM --
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Stem Cell Ruling Stops Federal Disease Studies
Researchers Experimenting with Treatments for Down Syndrome, Childhood Leukemia Examine Judge's Ruling (Source: Health News: CBSNews.com)...
POSTED 08/24/2010 at 06:19 PM --
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Stem Cell Ruling Stops Federal Disease Studies
Researchers Experimenting with Treatments for Down Syndrome, Childhood Leukemia Examine Judge's Ruling (Source: Health News: CBSNews.com)...
POSTED 08/24/2010 at 06:19 PM --
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Stem Cell Ruling Stops Federal Disease Studies
Researchers Experimenting with Treatments for Down Syndrome, Childhood Leukemia Examine Judge's Ruling (Source: Health News: CBSNews.com)...
POSTED 08/24/2010 at 06:19 PM --
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Primary Biventricular Repair of Atrioventricular Septal Defects: An Analysis of Reoperations [ORIGINAL ARTICLES: PEDIATRIC CARDIAC]
Conclusions
Down syndrome and right ventricular dominance are independent predictors of reoperation after complete AVSD repair. Biventricular repair of isolated AVSD with a small left ventricle can be successfully accomplished with no mortality. (Source: The Annals of Thoracic Surgery)...
POSTED 08/24/2010 at 03:35 PM --
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Bradycardia During Induction of Anesthesia with Sevoflurane in Children with Down Syndrome.
Conclusion: Bradycardia during anesthetic induction with sevoflurane was common in children with Down syndrome, with and without a history of congenital heart disease.
PMID: 20736433 [PubMed - as supplied by publisher] (Source: Anesthesia and Analgesia)...
POSTED 08/23/2010 at 06:00 PM --
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Understanding attitudes toward people with Down syndrome
Abstract (Source: American Journal of Medical Genetics Part A)...
POSTED 08/21/2010 at 03:39 AM --
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Generation of a panel of antibodies against proteins encoded on human chromosome 21
Conclusions:
Although we have successfully isolated new antibodies to SOD1 and RRP1 for use on western blots, in our hands these antibodies have not been successfully used for immunohistochemistry studies. These antibodies are freely available to other researchers. Our data high-light the technical difficulty of producing species-specific antibodies for both western blotting and immunohistochemistry. (Source: Journal of Negative Results in BioMedicine)...
POSTED 08/19/2010 at 06:00 PM --
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Down syndrome childhood acute lymphoblastic leukemia has a unique spectrum of sentinel cytogenetic lesions that influences treatment outcome: a report from the Children's Oncology Group
Children with Down syndrome (DS) have an increased risk of acute lymphoblastic leukemia (ALL) and an inferior outcome. We reviewed data from 2811 children with ALL enrolled in Children's Oncology Group P9900, which included prospective testing for the major cytogenetic lesions in childhood ALL: ETV6-RUNX1, TCF3-PBX1, BCR-ABL1, and MLL translocations and trisomies of chromosomes 4 and 10. Eighty (3%) B-precursor ALL patients had DS. Age, sex, white blood cell count, and risk group were similar between DS-ALL and non–DS-ALL but significantly more patients with DS-ALL were white (91.2% vs 76.4%, P = .001). Children with DS-ALL had lower rates of the favorable cytogenetic lesions ETV6-RUNX1 (2.5% vs 24%, P < .001) and trisomies 4 and 10 (7.7% vs 24%, P < .001). Five-year event-free......
POSTED 08/19/2010 at 11:02 AM --
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The development of adaptive skills in young people with Down syndrome
(Source: Journal of Intellectual Disability Research)...
POSTED 08/13/2010 at 04:51 AM --
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MA legislators ban the âR-wordâ from state laws
By Brian Skotko, MD, MPP, a specialist in Children’s Hospital Boston’s Down Syndrome Program
Brian Skoto, MD, MPP
Letâs applaud together. After decades of advocacy, two words are now banished from our state laws. Last week, Governor Deval Patrick signed legislation that effectively replaced every use of the words “mental retardation” with “intellectual disabilities or disability” in all Massachusettsâs laws. This comes nearly one year after the Department of Mental Retardation was renamed the Department of Developmental Services.
So, whatâs the big deal? For years, our society has turned what was once a simple medical term into an epithet of ridicule and bigotry. The Black Eyed Peas originally sang their hit song under the title, âLetâs G......
POSTED 08/11/2010 at 10:59 AM --
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Impairment of ATPase, adenine nucleotide translocator, and adenylate kinase causes mitochondrial energy deficit in human skin fibroblasts with chromosome 21 trisomy
A central role for mitochondrial dysfunctions has been proposed in the pathogenesis of Down syndrome (DS), a multifactorial disorder caused by trisomy of human chromosome 21.
To explore whether and how abnormalities in mitochondrial energy metabolism are involved in DS pathogenesis, we investigated the catalytic properties, gene expression and protein levels of certain proteins involved in mitochondrial ATP synthesis such as ATPase, ADP/ATP translocator (ANT) and adenylate kinase (AK) in human skin fibroblasts from subjects with DS (DS-HSF) comparing them with euploid fibroblasts.
In DS-HSF, we found a strong impairment of mitochondrial ATP synthesis due to a reduction in the catalytic efficiency of each of the investigated proteins. This impairment occurred in spite of unchanged gene ......
POSTED 08/09/2010 at 06:00 PM --
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