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A laser capillary spectrophotometric technique (LCS), based on the method of Verhoff et al. (1969Verhoff et al. ( , 1977, is developed for the rapid and accurate determination of the bivariate drop size-concentration distribution for reactive liquid-liquid dispersions. The method employs a precision bore capillary, through which a sample is drawn from the mixing vessel by a vacuum pump. An appropriate light source is used to distinguish between the slugs of dispersed phase and continuous phase as the sample passes by two detection points in the capillary. The optical device is designed to measure drop size by the difference of light refraction between the two phases and drop concentration by the light absorbance of the organic phase in the drop. The new technique can automatically measure drop-size and drop-concentration distributions of thousands of drops within a few minutes. This technique can provide important information on the state of a reactive dispersion in situ and can provide information on the influence of dispersed-phase mixing effects on mass transfer and/ or reactions in liquid-liquid dispersions. Further, the LCS technique provides the capability for on-line monitoring and control of units processing liquid dispersions.

BackgroundAutosomal-dominant brachydactyly type E is a congenital abnormality characterized by small hands and feet, which is a consequence of shortened metacarpals and metatarsals. We recently encountered a young gentleman exhibiting shortening of 4th and 5th fingers and toes. Initially, we suspected him having pseudopseudohypoparathyroidism (PPHP) because of normal biochemical parameters, including electrolyte, Ca, P, and parathyroid hormone (PTH) levels; however, his mother and maternal grandmother had the same conditions in their hands and feet. Furthermore, his mother showed normal biochemical parameters. To the best of our knowledge, PPHP is inherited via a mutated paternal allele, owing to the paternal imprinting of GNAS (guanine nucleotide binding protein, alpha stimulating) in the renal proximal tubule. Therefore, we decided to further analyze the genetic background in this family.MethodsWhole exome sequencing was performed using genomic DNA from the affected mother, son, and the unaffected father as a negative control.ResultsWe selected the intersection between 45,490 variants from the mother and 45,646 variants from the son and excluded 27,512 overlapping variants identified from the father. By excluding homogenous and compound heterozygous variants and removing all previously reported variants, 147 variants were identified to be shared by the mother and son. Variants that had least proximities among species were excluded and finally 23 variants remained.ConclusionAmong them, we identified a defect in parathyroid hormone like hormone (PTHLH), encoding the PTH-related protein, to be disease-causative. Herein, we report a family affected with brachydactyly type E2 caused by a novel PTHLH mutation, which was confused with PPHP with unclassical genetic penetrance.

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