Showing papers in "Genetics in Medicine in 2009"

TL;DR: The EGAPP processes are described and the specific methods and approaches used by the EWG are described, which include an independent, non-federal Working Group, a multidisciplinary expert panel, and a systematic review of evidence.

TL;DR: The EGAPP Working Group constructed a chain of evidence that linked genetic testing for Lynch syndrome in patients with newly diagnosed CRC with improved health outcomes in their relatives, and concluded that there is moderate certainty that such a testing strategy would provide moderate population benefit.

TL;DR: In this supplementary review, Lynch syndrome refers to individuals with a predisposition to CRC and certain other malignancies as a result of a germline mismatch repair (MMR) gene mutation—including those with an existing cancer and those who have not yet developed cancer.

TL;DR: Most patients with primary ciliary dyskinesia have a history of neonatal respiratory distress, suggesting that motile cilia play a role in fluid clearance during the transition from a fetal to neonatal lung.

TL;DR: An increased risk of malignancy has only been documented in Cowden syndrome; however, current recommendations advise that all individuals with PTEN hamartoma tumor syndrome follow the cancer surveillance strategies suggested forCowden syndrome until further data indicate otherwise.

TL;DR: PTEN gene sequencing has a high diagnostic yield when performed in a selected population of individuals with ASDs or DD/MR and macrocephaly, and Germline mutations in PTEN are an important, identifiable etiology among these patients.

TL;DR: In this population of infants with advanced disease, biweekly infusions with alglucosidase alfa prolonged survival and invasive ventilation-free survival and improved indices of cardiomyopathy, motor skills, and functional independence.

TL;DR: Most deceased Fabry Registry patients exhibited serious cardiac and renal dysfunction, and late diagnosis may have contributed to the early deaths of these patients.

TL;DR: Different Trisomy 21 research groups have already identified candidate genes that are potentially involved in the formation of specific Down syndrome features, and these advances in turn may help to develop targeted medical treatments for persons with Trisome 21.

TL;DR: This review summarizes the main features of the ciliopathies, their underlying genetics, and the functions of the proteins involved, including new animal models, the role of ciliopathy proteins in signaling pathways and development, andThe unusual genetics of these diseases.

TL;DR: This updated meta-analysis provides new evidence to support the use of array-based comparative genomic hybridization in investigating patients with learning disability and congenital anomalies in whom conventional cytogenetic tests have proven negative.

TL;DR: A multidisciplinary workshop was convened by the National Institutes of Health and the Centers for Disease Control and Prevention to review the scientific foundation for using personal genomics in risk assessment and disease prevention and to develop recommendations for targeted research.

TL;DR: The findings raise concern about several barriers among minorities and calls for a development of educational and communication strategies that facilitate in narrowing the gap between racial and ethnic groups.

TL;DR: Interindividual variation suggests that a more expansive overall measure of utility could be used to identify individuals who are more likely to benefit from personal genomic information as well as those for whom the risks of personal information may be greater than any benefits.

TL;DR: These guidelines provide an approach to a fetus suspected of manifesting a skeletal dysplasia and determine accurate recurrences risks to the at-risk couples improves patient care.

TL;DR: Osteogenesis imperfecta is a systemic heritable disorder of connective tissue whose cardinal manifestation is bone fragility and the current standard of care includes a multidisciplinary approach with surgical intervention when necessary, proactive physiotherapy, and consideration for the use of bisphosphonates all in attempts to improve quality of life.

TL;DR: In this paper, an evidence-based review addressed the question of whether testing for UGT1A1 mutations in patients with metastatic colorectal cancer treated with irinotecan leads to improvement in outcomes, when compared with no testing.

TL;DR: The EGAPP Working Group (EWG) found insufficient evidence to make a recommendation for or against the use of tumor gene expression profiles to improve outcomes in defined populations of women with breast cancer.

TL;DR: NF2 represents a difficult management problem with most patients facing substantial morbidity and reduced life expectancy, although watchful waiting and occasionally radiation treatment have a role.

TL;DR: The type and distribution of mutations are consistent with the hypothesis that Van der Woude is caused by haploinsufficiency of interferon regulatory factor 6 and suggest a two-tier approach for efficient mutation screens for interferons regulatory factors 6.

TL;DR: In populations of northern European descent, the p.C282Y mutation in the HFE gene is highly prevalent, and HFE-associated hereditary hemochromatosis is the most common type of inherited iron overload disorder, postulated to be the mechanism for iron overload in this condition.

TL;DR: Individuals who present to health care providers with online genetics information may be among the most motivated to take steps toward healthier lifestyles and these motives might be leveraged by health Care providers to promote positive health outcomes.

TL;DR: The evidence is currently insufficient to recommend for or against the routine use of UGT1A1 genotyping in patients with metastatic colorectal cancer who are to be treated with irinotecan, with the intent of modifying the dose as a way to avoid adverse drug reactions (severe neutropenia).

TL;DR: Within the population studied, the referral screening tool seems to be a reliable and valid tool to identify individuals who should be referred for consideration of BRCA1/2 testing.

TL;DR: The very limited evidence suggests that systematic tools may add significant family health information compared with current primary care practice, and the effect of their use on health outcomes has not been evaluated.

TL;DR: Propensity score matching and nonlinear mixed effects model analyses provide a prototype for assessment of treatment outcomes based on observational data from international rare disease registries.

TL;DR: Miglustat treatment was not shown to lead to measurable benefits in this cohort of patients with late-onset Tay-Sachs disease, and the observed safety profile was consistent with that of the approved dose (100 mg TID) in type 1 Gaucher disease.

TL;DR: This workshop was the first attempt at a multicenter crossdiscipline evaluation of the results of HCT for Krabbe disease and, if neurologic deterioration was confirmed, develop possible explanations as to causation.

TL;DR: Long-term agalsidase alfa is effective and was well tolerated in women with Fabry disease and continuously improved over 4 years, according to the Mainz Severity Score Index.

TL;DR: Improved diagnostic yield of array comparative genomic hybridization as compared with conventional karyotyping is demonstrated in the diagnostic workup of miscarriages.