A trinucleotide deletion in the transthyretin gene (delta V 122) in a kindred with familial amyloidotic polyneuropathy

A 63-year-old white man of Ecuadorian origin had a subarachnoid hemorrhage at age 57 followed by numbness and paresthesia in his lower extremities. He subsequently developed sexual impotence, alternating constipation and diarrhea, urinary frequency, and difficulty in walking. Rectal biopsy revealed amyloid deposits immunohistochemically reactive with antitransthyretin antisera. Direct DNA sequencing of the transthyretin gene of the patient showed a trinucleotide deletion in exon 4. This deletion resulted in the loss of one of two valines at position 121 or 122. DNA analysis on 11 family members at risk revealed four mutant gene carriers. Plasma transthyretin levels in the mutant gene carriers measured by nephelometry were very low. Peptide sequence analysis revealed that most of plasma transthyretin was normal with only a small amount of variant protein. This is the first report of a DNA deletion in the transthyretin gene. We speculate that the loss of valine in the carboxyl terminal region of the transthyretin monomer alters stability of the tetrameric protein, which leads to rapid clearance from the plasma and amyloid deposition in the tissue.     

Microwave field-detecting element based on pyroelectric effect in PVDF

A microwave field-detecting element based on the pyroelectric effect in polyvinylidene fluoride (PVDF) has been developed. Characterisation of the response of a half-wavelength structure etched on 25 ?m PVDF film has been modelled and validated by measurements. The sensitivity, linearity and dynamic range are sufficient for array applications.     

Factors in the current adjustment of young adult daughters of alcoholic and problem drinking fathers.

The adjustment status of women whose fathers were alcoholic, psychiatrically disturbed, or normal was compared to determine the extent of daughters' vulnerability and whether family climate and social support variables moderated the development of symptomatology. The 240 respondents, who were either university staff members or students, comprised four groups: women with normal fathers (n?=?81), women with alcoholic and problem drinking fathers (n?=?114), women with psychiatrically disturbed fathers (n?=?30), and women with both parents who were alcoholic or problem drinkers (n?=?15). Daughters of alcoholic and problem drinking fathers reported more neurotic and acting-out symptoms than did daughters of normal fathers. However, a similar elevation of neurotic and acting-out symptoms was found among the daughters of psychiatrically disturbed fathers, who in addition had significantly higher depression scores than did the daughters of alcoholic and problem drinking fathers. Daughters' rates of alcohol use did not distinguish the groups. Family climate and social support variables were found to be related to daughters' current adjustment. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Analysis of Current–Voltage Measurements on Long-Wavelength HgCdTe Photodiodes Fabricated on Si Composite Substrates

We have performed a detailed study of dark current versus voltage to understand existing limitations in dark current and address the nonuniformity of dark current in devices fabricated on HgCdTe grown on silicon substrates. One interesting observation is that trap-assisted tunneling, g-r currents, are not found close to zero bias in certain devices. Devices from the low end of the R ₀ A distribution show heavy shunting paths close to zero bias. We believe that these shunting paths may be the limiting cause of tail distributions in fabricated focal plane array tail distributions. Possible causes for these shunting paths are surface charges associated with dislocation cores and impurity gettering at dislocation cores. The measured non-anti-reflection (AR)-coated quantum efficiency (QE) was 0.576 at 78 K and displays the classical response versus wavelength. The measured QE on isolated single devices is consistent with the 256 × 256 focal-plane array mean QE. Obtained average dark currents are on the order of mid 10⁻⁵ A cm^–2, which is one order of magnitude higher than dark currents obtained from arrays on lattice-matched substrates. On average, arrays on lattice-mismatched substrates show performance characteristics inferior to those of arrays fabricated on lattice-matched substrates. This inferior performance is due to array pixel operability, as can be seen from the tail of the distribution and the average dark currents, which are one order of magnitude higher than those obtained on lattice-matched substrates.     

Effects of abomasal vegetable oil infusion on splanchnic nutrient metabolism in lactating dairy cows

Changes in the metabolism of nutrients by the portal-drained viscera (PDV) and liver may contribute to the reduction in dry matter intake (DMI) and other production responses generally observed in lactating dairy cows fed supplemental long-chain fatty acids (LCFA). In the present study, effects of a 7-d abomasal infusion of vegetable oil on arterial concentration and splanchnic (PDV and liver) metabolism of nutrients were measured in six cows at 55 (early lactation [ELAC]) and 111 (midlactation [MLAC]) d postpartum. Cows were fed for ad libitum DMI at 8-h intervals, and blood samples for measurement of splanchnic metabolism were obtained over 8 h beginning 2 h before feeding at 0830 h. Blood flow for the PDV and liver was increased by oil infusion and was greater in ELAC, despite similar-feed DMI during blood sampling. Increased blood flow in ELAC was associated with greater liver oxygen removal and glucose release that accompanied greater milk yield. In contrast, oil infusion had no effect on splanchnic oxygen use. Greater blood flow during oil infusion may have been due to specific effects of intestinal LCFA supply on PDV blood flow. Net PDV release and liver removal of branched-chain volatile fatty acids (VFA) and ammonia were increased by oil infusion. Net PDV release of longer-chain (4 and 5 C) VFA and NEFA was greater in ELAC, but net PDV flux of other nutrients was not affected by lactation stage, possibly due to the similarity of feed DMI. Oil infusion increased arterial concentration and net PDV release and liver removal of NEFA, and it decreased net liver release and arterial concentration of glucose. Effects of oil infusion on liver glucose release were associated with decreased daily DMI. In ELAC, arterial concentration and net liver removal of NEFA were also increased, but liver release of glucose was greater than in MLAC. Oil infusion and ELAC both increased net liver removal of L-lactate. The resulting decrease in net total splanchnic release of L-lactate in ELAC reflects decreased tissue energy balance of the cows. Generally, stage of lactation and relative milk yield had greater effects on metabolism of the liver than the PDV, in which metabolism was largely dictated by DMI. In the present study, there was little evidence to suggest an effect of stage of lactation on the metabolic response ofthe PDV and liver to postruminal LCFA supply.     

TIVA and SEI developments for enhanced front and backside interconnection failure analysis

Thermally-Induced Voltage Alteration (TIVA) and Seebeck Effect Imaging (SEI) are newly developed techniques for localizing shorted and open conductors from the front and backside of an IC. Recent improvements have greatly increased the sensitivity of the TIVA/SEI system, reduced the acquisition times by more than 20X, and localized previously unobserved defects. The system improvements, non-linear response of IC defects to heating, modeling of laser heating and examples using the improved system are presented.