Threonine dehydratase deficiency: A probable cause of non‐ketotic hyperglycinaemia

A patient with classical symptoms of non‐ketotic hyperglycinaemia (NKH) is presented. Threonine dehydratase was undetectable in a liver autopsy specimen, which was obtained within 1 h of death and immediately frozen at −70 °C. Activities of four marker enzymes were normal. This represents the first documentation of an inborn error of threonine metabolism and a new explanation of NKH.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147124/1/jimd0053.pd

Measurement of diffusion coefficients from solution rates of bubbles

The rate of solution of a stationary bubble is limited by the diffusion of dissolved gas molecules away from the bubble surface. Diffusion coefficients computed from measured rates of solution give mean values higher than accepted literature values, with standard errors as high as 10% for a single observation. Better accuracy is achieved with sparingly soluble gases, small bubbles, and highly viscous liquids. Accuracy correlates with the Grashof number, indicating that free convection is the major source of error. Accuracy should, therefore, be greatly increased in a gravity-free environment. The fact that the bubble will need no support is an additional important advantage of Spacelab for this measurement

Electron-vibration interaction in single-molecule junctions: from contact to tunneling regime

Point contact spectroscopy on a H2O molecule bridging Pt electrodes reveals a clear crossover between enhancement and reduction of the conductance due to electron-vibration interaction. As single channel models predict such a crossover at transmission probability of t=0.5, we used shot noise measurements to analyze the transmission and observed at least two channels across the junction where the dominant channel has t=0.51+/-0.01 transmission probability at the crossover conductance, which is consistent with the predictions for single-channel models.Comment: 4 pages, 1 table, 4 figure

Ca2+ uptake to purified secretory vesicles from bovine neurohypophyses

Purified secretory vesicles isolated from bovine neurohypophyses were found to take up Ca2+ when incubated at 30°C in media containing 10−7 to 10−4 M free Ca2+. At 10−4 free Ca2+ 19 nmol/mg protein were taken up within 30 min. The initial uptake at this Ca2+ concentration was about 2 nmol/mg protein per min. The uptake of Ca2+ to secretory vesicles was not affected by ATP, oligomycin, ruthenium red, trifluoperazine, Mg2+ or K+, but was inhibited by Na+ and Sr2+. From these characteristics it can be concluded that the uptake system does not utilize directly ATP (as the Ca2+-ATPases known to be present in the cell membrane and the endoplasmic reticulum) and is different from the mitochondrial Ca2+ uptake system driven by respiration and/or ATP hydrolysis. However, Ca2+-Na+ exchange may well operate: In experiments using different concentrations of Na+ we found half-maximal inhibition of Ca2+ uptake with 33.3 mM Na+. An analysis of the data in a Hill plot indicated that at least 2 Na+ would be exchanged for 1 Ca2+. Also, it was found that Ca2+ previously taken up could be released again by external Na+ but not by K+

Screening of high risk infants for metabolic disease in a metropolitan hospital

Screening of symptomatic infants for metabolic diseases is described which led to an improved detection rate because of better awareness and case selection, as well as the use of a test for urinary organic acids.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147121/1/jimd0081.pd

Kinetic Family Drawing Comparisons of Students who are Deaf with Signing Parents and Students who are Deaf with Non-signing Parents

This study evaluated the differences in the Kinetic Family Drawing (KFD) of two groups of students who are Deaf: one with signing parents, and the other with non-signing parents. Participants included 14 students who were Deaf from a large Midwestern metropolitan area school specifically serving Deaf people, from middle school to high school, ranging in age from 12 to 19 years old. The questions to be addressed were: Will there be a difference in drawing indicators of those students with signing parents when compared to those students with non- signing parents? Could those differences indicate possible struggles in cognitive and psychosocial developments of those with non-signing parents? To answer this question, three raters, were trained to use the Formal Elements Art Therapy Scale (FEATS) evaluation process to objectively rate the students’ KFDs. A t-test of the results determined that there was a significant difference between the two groups. Further analysis of elements discovered in the KFDs also presented several themes from the non-signing group indicating that the differences may be due to inadequate development of cognitive and psychosocial aspects of the students with non-signing parents. The study drew comparisons from specific FEATS categories to provide art therapists and clinicians with data that may be useful in evaluating a Deaf individual’s family support as well as his/her abilities in the areas of coping, problem solving, and interaction with other people. Future studies that include participation by students outside the school may solicit richer data, permitting generalizations of results to specific groups