Discrepancies in upper and lower limb patterning in split hand foot malformation. Split hand foot malformation (SHFM) is genetically heterogeneous with five loci mapped to date. Highly variable in presentation, it can occur as an isolated finding or with other anomalies. The genetic heterogeneity and clinical variability make genetic counselling of SHFM families challenging. By establishing genotype/phenotype correlations, one can provide insight into responsible developmental genes and help to direct mapping efforts and target genetic testing, ultimately providing more accurate information for family members. Preaxial involvement of the upper extremities was a significant discriminating limb-specific variable in our analysis of genetically mapped SHFM cases. This finding, which was originally identified through descriptive epidemiology, was subsequently confirmed by discriminant function analysis (p < 0.0001) to be a significant locus discriminator. Preaxial involvement of the upper extremities was most commonly seen at the SHFM3 locus mapped to chromosome 10q24 (OMIM 600095) and consisted of proximally placed thumbs and/or triphalangeal thumbs (TPT), preaxial polydactyly and/or absence of the first ray. These patients' feet, however, tended to show a classical central longitudinal deficiency without a significant preaxial component. This article discusses this discrepant clefting pattern between the upper and lower extremities and proposes potential mechanisms.
Accurately estimating the water-to-cementitious materials ratio (w/cm) of hardened concrete is one of the most difficult tasks frequently requested of concrete petrographers. Different methods have been developed and implemented with varying degrees of success. To increase the reliability of estimated w/cm, the indentation hardness of laboratory prepared specimens of neat paste, mortar, and concrete was evaluated using a Buehler semi-automatic testing machine. Preliminary results indicate good correlations between the average indentation hardness measured on the Rockwell HRL scale and the w/cm of the specimens. The data demonstrate a potential for using these correlations to estimate the w/cm of hardened concrete. Testing protocols, sample preparation requirements, and the effects of aggregate and of the composition of concrete mixtures (portland cement and fly ash content) are illustrated. Directions for future work are also discussed.
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