[Heterogeneity of muscular dystrophy].
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Cytogenetics↗
Biomedical subjects
T Conway
Publications and source records attributed to T Conway.
Hereditary breast cancer and family cancer syndromes.
Hereditary breast cancer (HBC) shows extant clinical and genetic heterogeneity. Clinically one finds the onset of breast cancer at an early age, an excess of bilaterality, and patterns of multiple primary cancer such as combinations of breast and ovarian carcinoma in the hereditary breast-ovarian cancer (HBOC) syndrome. In addition to HBOC, one sees a variety of putative breast cancer-prone genotypes inclusive of hereditary site-specific breast cancer, and the Li-Fraumeni (SBLA) syndrome that is characterized by cancers involving all three germinal layers including sarcomas, brain tumors, leukemia, lymphoma, and adrenal cortical carcinoma in addition to often markedly early-onset breast cancer. Breast cancer is also associated with autosomal dominantly inherited Cowden's disease and autosomal recessively inherited ataxia-telangiectasia. Examples of pedigrees depicting clinical examples of these several HBC syndromes are presented in order to describe HBC's heterogeneity. The recent identification of the BRCA1 gene in early-onset hereditary site-specific breast cancer and the HBOC syndrome has led to new challenges for the genetic counselor. We review genetic counseling, which embraces surveillance and management recommendations that are responsive to the natural history of HBC and address the concept for future development of centers of expertise for HBC in the interest of improving cancer control.
Age of Onset↗
Evolution of carbohydrate metabolic pathways.
Current studies of hyperthermophilic archaea and bacteria, the phylogenetically deepest-rooted and slowest-evolving extant organisms known, are allowing new insights into the nature of presumably ancient metabolic pathways. The apparent common occurrence of modified non-phosphorylated Entner-Doudoroff (ED) pathways among saccharolytic archaea and the absence of the conventional Embden-Meyerhof-Parnas (EMP) mode of glycolysis indicate that the ED pathway is the older route of carbohydrate dissimilation. However, gluconeogenesis via the "reversed" EMP route has been found in archaea. Thus, the EMP pathway was probably an anabolic pathway to begin with; its catabolic role came later, with the evolution of fructose phosphate kinases, using ATP, ADP or pyrophosphate as phosphate donors. Similarly, the presence of reductive reactions of the citric acid cycle in anaerobic archaea and the most deeply rooted bacteria, including autotrophs, indicates that the citric acid cycle was originally a reductive biosynthetic pathway.
Bacteria↗
Standardized system for recording dental caries in prehistoric skeletons.
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Dental Caries↗
Intensive remedial instruction for children with severe reading disabilities: immediate and long-term outcomes from two instructional approaches.
Sixty children with severe reading disabilities were randomly assigned to two instructional programs that incorporated principles of effective instruction but differed in depth and extent of instruction in phonemic awareness and phonemic decoding skills. All children received 67.5 hours of one-to-one instruction in two 50-minute sessions per day for 8 weeks. Both instructional programs produced very large improvements in generalized reading skills that were stable over a 2-year follow-up period. When compared to the growth in broad reading ability that the participants made during their previous 16 months in learning disabilities resource rooms, their growth during the intervention produced effect sizes of 4.4 for one of the interventions and 3.9 for the other. Although the children's average scores on reading accuracy and comprehension were in the average range at the end of the follow-up period, measures of reading rate showed continued severe impairment for most of the children. Within 1 year following the intervention, 40% of the children were found to be no longer in need of special education services. The two methods of instruction were not differentially effective for children who entered the study with different levels of phonological ability, and the best overall predictors of long-term growth were resource room teacher ratings of attention/behavior, general verbal ability, and prior levels of component reading skills.
Awareness↗
Are primary care residents adequately prepared to care for women of reproductive age?
A 1991 study of 115 internal medicine and 28 family practice residents at a large inner-city public hospital finds that both groups would perform poorly in providing preconception counseling to women of reproductive age. More than 40% of residents failed to indicate that they would provide a healthy woman with information on rubella immunization and family planning or counseling on sexually transmitted diseases and safer sex. When counseling a diabetic woman seeking pregnancy, 74% would not have discussed congenital anomalies with her and 45% would not have considered discontinuing oral hypoglycemics if she became pregnant. Furthermore, 58% would have neglected to review or change hypertension medications in a newly diagnosed pregnant woman. Although both internal medicine and family practice residents had positive attitudes toward offering preconception care, family practice residents had significantly higher attitude scores. No clear improvement was found in patient management, attitude or knowledge scores as residents progressed from their first to their third year of training.
Adult↗