Showing papers in "Genetics in Medicine in 2003"

TL;DR: Upon returning to the U.S., author Singhal’s Google search revealed the following: in January 2001, the impeachment trial against President Estrada was halted by senators who supported him and the government fell without a shot being fired.

TL;DR: Although many primary care physicians perceive genetics as a low practice priority, they do report a need for educational programs in genetics, informational resources, and referral guidelines.

TL;DR: How family history can serve as a bridge from genetics to genomics in practice because it reflects the presence, not only of single-gene disorders, but also of shared genes, shared environments, and complex gene-environment interactions.

TL;DR: New data on etiology and clinical features of Klinefelter syndrome is summarized in order to derive research priorities and Behavioral and expressive language difficulties are amenable to treatment by androgen therapy and psychological help.

TL;DR: The prevalence of GJB2 and GJB6 mutations in a large North American Repository of DNA from deaf probands is reported and the profound effects of familial ethnicity and parental mating types on the frequency of these mutations in the population are documented.

TL;DR: Although non-Hispanic black individuals have overall response rates similar to those of the other racial/ethnic groups, they are less likely to agree to have a blood sample saved for future genetic research, and these findings demonstrate wide acceptance among survey participants for allowing storage of specimens for future Genetic research across many demographic variables.

TL;DR: Can mucopolysaccharidosis type I disease severity be predicted based on a patient’s genotype?

TL;DR: A systematic World Wide Web search was conducted in May 2002 to assess the availability of genetic services sold directly to consumers on the Internet as mentioned in this paper, finding that out of 105 sites that offered genetic services directly, most offered non-health-related services, including parentage confirmation testing (83%), identity testing (56%), and DNA banking (24%).

TL;DR: Combining the molecular analysis with the cognitive results suggest that the genes GTF2IRD1 andGTF2I contribute to deficits on visual spatial functioning.

TL;DR: Despite a common deletion size in 76% of patients with SMS, the only constant objectively defined features among these patients are sleep disturbances, low adaptive functioning, and mental retardation.

TL;DR: The mutation spectrum of the connexin 26 gene is wide, with more than half of the patients having only one mutation detected, and further efforts are needed to look for possible existence of a second mutant allele.

TL;DR: Targeted family history analysis reveals patients who require increased medical surveillance, preventive measures, or genetic counseling/testing.

TL;DR: Although rapid progress has been made in understanding of the basis of incomplete penetrance and the differences of expressivity, they still remain unknown for most of the genetic disorders.

TL;DR: This work has shown that the carotid and intracerebral vascular beds are relatively protected from atherosclerosis as compared to the coronary circulation, particularly at lower blood pressures, and that higher sheer stress is a strong stimulus for release of nitric oxide that locally decreases risk of Atherosclerosis.

TL;DR: Although the molecular determination of a COL2A1 mutation can predict the occurrence of Stickler syndrome, the variability observed in the families described here makes it difficult to predict the severity of the phenotype on the basis of genotype.

TL;DR: Parents' support for FXS screening is at odds with current screening criteria, but as new genetic knowledge and technologies reconfigure these criteria, it will be important to take parents' perspectives into account.

TL;DR: Research is needed to assess the feasibility, clinical validity, clinical utility,clinical utility, and ethical, legal, and social issues of an approach that uses familial risk stratification and genetic evaluation to enhance CAD prevention efforts.

TL;DR: Sequencing of the CFTR gene provides important information for CF patients and is a valuable adjunct to a carrier screening program to resolve ambiguities in panel testing.

TL;DR: If issues of cost, discrimination, and privacy are addressed, lay individuals prefer genetic testing as the basis for prescription of medicines that exhibit racially patterned response variation.

TL;DR: The subtelomeric FISH probes are instrumental in the detection of subtelomere anomalies in a significant proportion, although no more than 50% are subtle, of patients with idiopathic MR/DD/NDF.

TL;DR: The haplotype structure of the LPL gene is outlined, the utility of haplotype-based analysis in association studies is illustrated, and the importance of defining haplotype frequencies for different ethnic groups is demonstrated.

TL;DR: The results suggest that the negative attitudes of African Americans toward biomedical research do extend to some aspects of genetics and that educational programs must be designed and implemented if this community is going to receive the maximum benefits of this advancing technology.

TL;DR: Patient knowledge of ancestry and suspicion ofrace-designated drugs constitute substantial barriers that need to be incorporated in judging the likely effectiveness of race-based pharmacogenomics.

TL;DR: The Bethesda guidelines are the most cost-effectiveness approach to screen persons for HNPCC.

TL;DR: The uptake of BRCA1/2 testing among women undergoing genetic counseling was associated with innovative characteristics of the participant and the perceived compatibility of the test with existing values and needs, but not with the complexity or relative advantage of theTest.

TL;DR: The accuracy of mothers’ recall of infant risk declines over time, with an increasing number of mothers underestimating the infant’s risk.

TL;DR: A need for increased clinical genetics outreach, physician education, and public awareness of genetic services for hereditary breast cancer in rural areas is demonstrated.

TL;DR: These results indicate an acceptance of newborn genetic testing for deafness by individuals in the broader community, regardless of hearing status.

TL;DR: Despite deficiencies in their knowledge about the genetic aspects of breast cancer, many nongeneticist physicians have discussed testing and some have ordered testing.

TL;DR: Practical applications of both diagnostic testing and genetic counseling for the major inherited thrombophilias: inherited resistance to activated protein C/factor V Leiden, prothrombin G20210A mutation, protein C deficiency, protein S deficiency, and antithrombin deficiency are discussed.