Showing papers in "Genetics in Medicine in 2006"

TL;DR: This study supports the use of weekly infusions of idursulfase in the treatment of mucopolysaccharidosis II and exhibited significant improvement in the composite endpoint compared to placebo after one year.

TL;DR: In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.

TL;DR: The Maternal and Child Health Bureau of the US Department of Health and Human Services (HHS) as mentioned in this paper proposed a process for the standardization of outcomes and guidelines for state newborn screening programs and defined responsibilities for collecting and evaluating outcome data.

TL;DR: An international panel of physicians with expertise in Fabry disease has proposed guidelines for the recognition, evaluation, and surveillance of disease-associated morbidities, as well as therapeutic strategies, including enzyme replacement and other adjunctive therapies, to optimize patient outcomes.

TL;DR: The evolution of the concept of clinical utility of biochemical or molecular testing for genotypic variations associated with risk of disease is reviewed, with a conclusion that multiple perspectives should be considered in the evaluation of genetic testing.

TL;DR: The collective data suggest that increased MECP2 gene copy number is mainly responsible for the neurodevelopmental phenotypes in these males and underscores the value of molecular analysis for patient diagnosis, family members at risk, and genetic counseling.

TL;DR: Investigation of the usefulness of multiple genetic testing using simulated data demonstrated that a high to excellent discriminative accuracy can be obtained by simultaneously testing multiple susceptibility genes.

TL;DR: Family history of diabetes is not only a risk factor for the disease but is also positively associated with risk awareness and risk-reducing behaviors and may provide a useful screening tool for detection and prevention of diabetes.

TL;DR: While phenotypic ascertainment remains a mainstay in the clinical setting, SSCP and DHPLC-aided DNA sequencing are a standard part of mutational investigation, and direct sequencing on a limited basis is now commercially available for patient diagnosis.

TL;DR: A new era of individualized disease prevention based on testing for genetic susceptibilities and safer, more effective use of drugs based on pharmacogenomic testing is predicted.

TL;DR: A substantial proportion of persons in the United States report having a close family member with cancer, and thus may be eligible for earlier or more aggressive cancer screening services.

TL;DR: Although RAI1 is the primary gene responsible for most features of SMS, other genes within 17p11.2 contribute to the variable features and overall severity of the syndrome.

TL;DR: It seems that in the absence of newborn screening for MCADD, premature death or serious disability occurs in 20% to 25% of children with the disorder, both in screened and unscreened cohorts.

TL;DR: Attention should be given to guilt and blame in X-linked families and understanding reproductive risks in autosomal recessive families when providing genetic counseling.

TL;DR: Increased risk of Down syndrome was associated with the methylenetetrahydrofolate reductase (MTHFR) 1298C allele and the RFC 180G alleles, suggesting a role of maternal polymorphisms of homocysteine/folate pathway as risk factors for Down syndrome.

TL;DR: Insight into the association between NPHS2 variants and nephrotic disease is hampered by the limitations of the existing studies, including small numbers of affected individuals and suboptimal control groups, and the available data suggest that large epidemiological case-control studies are warranted.

TL;DR: A targeted neurogenetic evaluation of all persons with ASDs seems warranted, and a significant increase in the diagnostic yield reported just a few years ago is found.

TL;DR: The purpose of this article is to describe a broadly applicable preclinical validation process for fluorescence in situ hybridization studies of metaphase cells and interphase nuclei using commercial or home brew probes.

TL;DR: In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.

TL;DR: Awareness of professional guidelines and being in a practice with a policy on genetic testing for risk of breast and ovarian cancer were associated with physicians' behaviors and interest among patients in testing.

TL;DR: Current knowledge regarding the motor system in Pompe disease is reviewed and an overview of physical therapy management of Pompe disease, including management strategies for individuals on enzyme replacement therapy are provided.

TL;DR: Findings demonstrate wide acceptance among survey participants for allowing storage of specimens for future studies but indicate the need to explore race/gender issues with the collection and storage of DNA for genetic research.

TL;DR: Comparison of acarbose and maltose as inhibitors of maltase-glucoamylase activity for determining acid α-glucosidase activity in dried blood spot specimens shows this assay can reliably detect infantile Pompe disease in patients.

TL;DR: Results provided further evidence that a novel nasopharyngeal carcinoma susceptibility gene may be located in this chromosome region, and may act as the highly risk molecular markers after verified in large population.

TL;DR: Although some subjects report feeling stigmatized as a result of their condition, this stigmatization is not uniformly associated with the condition's cause, genetic or otherwise; stigma emerges from a variety of sources in the context of the lived experience of a particular condition.

TL;DR: It is demonstrated that acceptance of BRCA1/2 test results may be limited among African American women, and being married and having less certainty about one's cancer risk may motivate acceptance of the test results.

TL;DR: It is proposed that one or more dosage-sensitive genes in this region contributes to cortical development and that deletion of 21q22.2-22.3 should be considered in the diagnosis of mentally retarded patients with facial dysmorphism and cerebral dysplasia.

TL;DR: rhGAA ERT for infantile Pompe disease results in an increase in PR interval and a decrease in both the QTd and the LV voltage, which suggest that these ECG parameters may be useful markers of the severity of cardiac disease and the response to ERT treatment in patients with infantile-onset Pompe disease.

TL;DR: It is confirmed that the magnetic-beads method provides a fast, simple, sensitive, and specific approach to purify plasma DNA, and the resulting high-quality DNA facilitates efficient examination of fetal DNA sequences.