Showing papers in "Genetics in Medicine in 2007"

TL;DR: A framework for the continuum of multidisciplinary translation research that builds on previous characterization efforts in genomics and other areas in health care and prevention is presented and the types of translation research can overlap and provide feedback loops to allow integration of new knowledge.

TL;DR: It is shown that patients with TSC2 mutations have significantly more hypomelanotic macules and learning disability in contrast to those with T SC1 mutations, findings not noted in previous studies.

TL;DR: This study indicates that the asymptomatic female carrier of Fabry disease is the exception, not the rule: heterozygotes suffer from significant multisystemic disease and reduced quality of life and must be monitored and treated accordingly.

TL;DR: The program's objective of decreasing high-risk marriages was not as successful, indicating the need for improvement of health education programs for the public, more efforts in counseling high risk couples, and changes in the strategy of timing of screening in relation to marriage.

TL;DR: D dup(7)(q11.23) syndrome may be as frequent as Williams-Beuren syndrome and a previously unrecognized cause of language delay and behavioral abnormalities, and Array-based comparative genomic hybridization is a powerful means of detecting genomic imbalances and identifying molecular etiologies in the clinic setting.

TL;DR: This study shows major differences between HHT1 and HHT2 phenotypes, which should be taken into account for future clinical studies.

TL;DR: This new microdeletion syndrome with its variable clinical presentation may be responsible for a proportion of Fryns syndrome patients and adds to the increasing number of new syndromes identified with array-based comparative genomic hybridization.

TL;DR: A considerable role for loci other than GJB2 and GJB6 in the etiology of autosomal recessive nonsyndromic sensorineural hearing loss is suggested, suggesting a considerable role in the study's results for novel pathogenic or benign variants.

TL;DR: No evidence was available showing that the results of CYP450 testing influenced SSRI choice or dose and improved patient outcomes, or was useful in medical, personal, or public health decision-making, and in the absence of evidence supporting clinical utility, EGAPP discourages use of CYp450 testing for patients beginning SSRI treatment until further clinical trials are completed.

TL;DR: The feasibility of future genomic profiling for predicting common diseases will depend substantially on the frequencies of the risk genotypes, given that the effects of susceptibility genes in complex diseases are small.

TL;DR: The aim of this review is to provide a comprehensive framework underlying the causes of hearing impairment and to detail the clinical management for patients with hereditary hearing loss.

TL;DR: PTEN gene sequencing should be considered in any child with macrocephaly and autism or developmental delay, and metabolic screening may not be warranted in autism spectrum disorders without more specific indications or additional findings.

TL;DR: Those with a high genetic risk score had a 57% increased risk of incident coronary heart disease in the Atherosclerosis Risk in Communities study, after adjusting for traditional risk factors.

TL;DR: Because treatment is unaltered by the presence or absence of mutations in these genes, restraint is recommended when considering the value of screening for mutations in a clinical setting.

TL;DR: In this paper, the authors evaluated 13 SNPs in and around IRF6 to test for association with nonsyndromic CL/P in 77 European-American (including five incomplete trios), 146 (three incomplete trio) and 34 (11 incomplete triono) Han Chinese trios from Taiwan and Singapore, respectively, plus 40 (two incomplete trioi) Korean CL/p trios.

TL;DR: Public health practitioners and clinical care providers may be called on to serve pronounced planning roles at the state level, and proper planning may ensure that individual rights are protected while research benefits are maximized.

TL;DR: It is argued that, even when problems of population stratification, genetic heterogeneity, and inflated Type I errors are addressed, the scientific community usually has unreasonably high expectations on replication success, based on initial low P values, a phenomenon known as the replication fallacy.

TL;DR: The literature from the past 3 years is reviewed on this new source of genomic variability and factors that should be considered when trying to differentiate between a pathogenic and a benign copy number variant.

TL;DR: This report of long-term data indicates appropriate screening and improved psychological measures for non-carriers with no evidence of undue psychological distress in carriers of hereditary nonpolyposis colorectal cancer mutations.

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: A quantitative review explores the effect of several theoretically based factors on genetic test uptake accuracy among a sample of 38 articles and recommends strategies for increasing accuracy using hypothetical scenario methodology to examine genetic susceptibility test uptake prediction.

TL;DR: The meta-analysis supports the involvement of the glutamate system of the brain in the pathogenesis of schizophrenia and shows evidence of a statistically significant association for GRIN2B.

TL;DR: Decliners may make more informed decisions after tailored health education, including adequate risk information, in newly diagnosed breast cancer patients approached for genetic counseling at the start of radiotherapy.

TL;DR: People affected by genetic conditions are increasingly likely to seek information about inheritance and risk factors from their primary care physicians rather than a geneticist, but several studies suggest that few health care providers are capable of fulfilling that role or are comfortable doing so.

TL;DR: A Gender Assessment Team that has provided a multidisciplinary approach to the diagnosis, medical and surgical treatment, genetic counseling, and psychosocial support of patients with ambiguous genitalia, intersex disorders, and other genital anomalies, collectively termed disorders of sex development is described.

TL;DR: There was a high degree of cancer risk communications with female first-degree relatives, but less so with male first- Degree relatives, both before and after genetic cancer risk assessment.

TL;DR: Chinese patients with nonsyndromic hearing impairment appear to have a relatively higher 235delC frequency than that of other Asian populations, and these results demonstrate that an easy and fast genetic testing method for this well-known GJB2 gene mutation can be made available for at least 2 million Chinese patients and family members with nonsedimental hearing impairment.

TL;DR: Phone results are a reasonable alternative to traditional in-person BRCA1/2 genetic test disclosure without any negative psychologic outcomes or compromise in knowledge, however, further study is needed in a more clinically representative population to confirm these findings.

TL;DR: Insight is provided into current trends in public demand and interest in nutrigenomic tests and will aid in assessing the impact of policies, efforts at public or provider education, and the evolution of the availability and demand for such tests.

TL;DR: Examination of data from over 119,000 Fragile X Syndrome tests and 307 prenatal tests to detect unsuspected findings and obtain clinical data when indicated to optimize genetic counseling can be used for genetic counseling of patients presenting for carrier detection and prenatal diagnosis for FragileX Syndrome.