Direct Visual Evidence for Neutral and Charged Hexaphyrin Aromaticity with and without Keto-Defect

We use density functional theory and time-dependent together with a set of extensive mul- tidimensional visualization techniques to characterize the influence of keto effect on charge distribution at ground state and electronic transitions for neutral and charged hexaphyrin aromaticity with and without keto-defect. It is found that the aromaticity is the key fac- tor to influence the ground state Mulliken charges distribution properties, other than the meso-aryl-substituted effect. But with the enhancement of the keto-defect, the distribution changes of Mulliken charges on the hexaphyrin groups are larger than those on the pentaflu- orophenyl substituted groups, following with the aromaticity changes from nonaromatic to aromatic. Furthermore, through characterizing by transition density and charge difference density, direct visual evidence for neutral and charged aromaticity with and without keto- defect can be clearly derived, and the ability of charge transfer between units of monoradical （nonaromaticity） and singlet biradical （aromaticity） forms is much stronger than that of neutral forms.

Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature

Steroid 5β-reductase [aldo-keto reductase family 1 member D1(AKR1D1)] is essential for bile acid biosynthesis. Bile acid deficiency caused by genetic defects in AKR1D1 leads to life-threatening neonatal hepatitis and cholestasis. There is still limited experience regarding the treatment of this disease. We describe an infant who presented with hyperbilirubinemia and coagulopathy but normal bile acid and γ-glutamyltransferase. Gene analysis was performed using genomic DNA from peripheral lymphocytes from the patient, his parents, and his elder brother. The patient was compound heterozygous for c.919C>T in exon 8 and exhibited a loss of heterozygosity of the AKR1D1 gene, which led to an amino acid substitution of arginine by cysteine at amino acid position 307(p.R307C). Based on these mutations, the patient was confirmed to have primary 5β-reductase deficiency. Ursodeoxycholic acid(UDCA) treatment did not have any effect on the patient. However, when we changed to chenodeoxycholic acid(CDCA) treatment, his symptoms and laboratory tests gradually improved. It is therefore crucial to supplement with an adequate dose of CDCA early to improve clinical symptoms and to normalize laboratory tests.