The placenta of an 8-month-old child diagnosed with long-chain 3-hydroxyacyl coenzyme A dehydrogenase (LCHAD) deficiency reportedly showed MFI, but no further evidence of a direct association between MFI/MPVFD and LCHAD deficiency has
been documented. Three cases of MFI/MPVFD were studied. Paraffin blocks of placental tissue were retrieved, tissue scrolls were harvested, and DNA was extracted. The alpha-subunit of the mitochondrial trifunctional protein containing the LCHAD coding region (HADHA) was subsequently Angiogenesis inhibitor amplified using specific primer sets and directly sequenced by the dideoxy chain termination method. All 3 placentas demonstrated heterozygous mutations in the HADHA gene. A sample from a 25-4/7 week gestation growth-restricted female infant revealed a heterozygous mutation in exon 11, 1072C>A (glutamine to lysine, Qln358Lys) with a heterozygous sequence difference in the intron following exon 6 (insertion of a T at position +9, +9insT). The 2nd sample from a 32-4/7 week gestation stillborn fetus revealed a heterozygous mutation (+3A>G after exon 3) and a clear homozygous sequence difference in exon 17. The 3rd sample from a 31 weeks gestation infant
revealed heterozygosity for VRT 826809 the+3A>G mutation after exon 3. All 3 placentas with MFI/MPVFD demonstrated heterozygous mutations in the HADHA gene, and 2 of the 3 placentas had 2 DNA changes. Given a background incidence of heterozygosity for LCHAD mutations of approximately 1 in 220, these findings lend support to the hypothesis that LCHAD mutations may be directly associated with and potentially causative of MFI/MPVFD.”
“Analytical approximations for space-charge-limited currents (SCLCs) in systems with exponential or Gaussian trap distributions were widely used in analyzing organic diodes. The current follows a power law with a transition into the trap-free SCLC at high voltages and an Ohmic low voltage limit. The power coefficient gamma is connected with either
the decay constant or the variance of MEK phosphorylation the distributions. Within these formulations, it is not possible to check the relevance of the numerous approximations needed to derive them. This concerns especially the relations of the contact work functions and of the layer thickness with the trap concentration, the position of the center of the trap distribution and its maximum value. Application of the analytical approximations to results of full numerical simulations allows one to set limits for the parameter ranges in which the approximations can be applied. In the case of the exponential distribution the analytical approximation is rather good for high trap concentrations and thicker layers. However, the simulations reveal a number of additional peculiarities.