Case of harlequin ichthyosis with a favorable outcome: Early treatment and novel, differentially expressed, alternatively spliced transcripts of the ATP-binding cassette subfamily A member 12 gene.

Harlequin ichthyosis (HI) is the most severe form of autosomal recessive congenital ichthyosis, with a high mortality rate. Recent advances in neonatal care and the early administration of retinoids have improved the survival rate of HI. Here, we present a case of HI who was successfully treated with early administration of etretinate and showed good prognosis. Next-generation sequencing identified novel mutations of the ATP-binding cassette subfamily A member 12 gene (ABCA12), c.5884+4_+5delAA and c.7239G>A, which caused skipping of exons 39 and 48, respectively. Transcripts with exon 48 skipping, which cause a deletion in the second ATP-binding cassette of ABCA12, were dominantly expressed in the skin. Besides the early administration of etretinate, the differential expression of the mutant protein with limited segmental deletion of ABCA12 may be related to the favorable outcome of our patient.

Thermostability and reactivity in organic solvent of O-phospho-L-serine sulfhydrylase from hyperthermophilic archaeon Aeropyrum pernix K1.

O-phospho-l-serine sulfhydrylase (OPSS) from archaeon Aeropyrum pernix K1 is able to synthesize l-cysteine even at 80 °C. In this article, we compared thermal stability and reactivity in organic solvent of OPSS with those of O-acetyl-l-serine sulfhydrylase B (OASS-B) from Escherichia coli. As a result, the thermostability of OPSS was much higher than that of OASS-B. Moreover, the activity of OPSS increased in the reaction mixture containing the organic solvent, such as N, N'-dimethyl formamide and 1,4-dioxane, whereas that of OASS-B gradually decreased as the content of organic solvent increased. From the crystal structural analysis, the intramolecular electrostatic interactions of N-terminal domain in OPSS seemed to be correlated with the tolerance of OPSS to high temperature and organic solvent. These results indicate that OPSS is more superior to OASS-B for the industrial production of l-cysteine and unnatural amino acids that are useful pharmaceuticals in the presence of organic solvent.

Immunohistochemical study on androgen receptors in the anterior cruciate ligament in dogs.

Androgen is closely involved as the cause of rupture of anterior cruciate ligament (ACL) in human. In dogs, however, factors contributing to rupture of ACL remain unknown. In this study, expression of androgen receptor (AR) and histological distribution of blood vessels in ACL, and serum testosterone concentration were investigated in relation with age and sex to confirm whether canine ACL is an androgen-responsive tissue. Materials of ACL were obtained from 26 dogs: 12 young female Beagles, 2 old female mixed breeds, 9 young male Beagles, and 3 old male mixed breeds. In all canine ACL, positive AR expression was recognized in the nuclei of the fibrocytes, fibroblasts, synovial cells, and vascular endothelial cells of ACL. Expressions of AR were lesser in old males compared to the young males; however, females had no age difference in expression. Distributions of blood vessels in the synovial membrane of the ligament were fewer in old dogs both of males and females than youngs. Although distributions of vessels in the interstitium were apparently fewer in young females. Serum testosterone concentration was significantly higher in young males. Females had no age difference in the levels. From these results, it is suggested that canine ACL is an androgen-responsive tissue, and this consideration seems to closely relate to the epidemiological background that the incidence of rupture of ACL of dogs is higher in females than in males.

Pressure bandage as an effective treatment for intralymphatic histiocytosis associated with rheumatoid arthritis.

The patient is a 71-year-old male who has been suffering from rheumatoid arthritis for over 20 years. He first noticed the erythema on his right forearm in 2008, which got worse in 2009. Topical corticosteroids were not effective, and a skin biopsy was performed. Histopathologic examination showed aggregation of the inflammatory cells in the dermal vessels. Those cells were positive for CD68 and CD31 and all the surrounding vessels expressed D2-40 and CD31. We diagnosed him with intralymphatic histiocytosis. One week after the skin was biopsied, only the part of the erythematous lesion covered by skin tape had improved, suggesting that pressure on the lesion might improve the erythematous eruption. We therefore used a pressure bandage elbow supporter in addition to topical treatment. The lesion improved 3 months later and was totally diminished after 9 months. Combined with previously reported cases, our case suggested that intralymphatic histiocytosis is closely related to lymphostasis.

Isolation and molecular characterization of pMG160, a mobilizable cryptic plasmid from Rhodobacter blasticus.

A 3.4-kb cryptic plasmid was obtained from a new isolate of Rhodobacter blasticus. This plasmid, designated pMG160, was mobilizable by the conjugative strain Escherichia coli S17.1 into Rhodobacter sphaeroides, Rhodobacter capsulatus, and Rhodopseudomonas palustris. It replicated in the latter strains but not in Rhodospirillum rubrum, Rhodocyclus gelatinosus, or Bradyrhizobium species. Plasmid pMG160 was stably maintained in R. sphaeroides for more than 100 generations in the absence of selection but showed segregational instability in R. palustris. Instability in R. palustris correlated with a decrease in plasmid copy number compared to the copy number in R. sphaeroides. The complete nucleotide sequence of plasmid pMG160 contained three open reading frames (ORFs). The deduced amino acid sequences encoded by ORF1 and ORF2 showed high degrees of homology to the MobS and MobL proteins that are involved in plasmid mobilization of certain plasmids. Based on homology with the Rep protein of several other plasmids, ORF3 encodes a putative rep gene initiator of plasmid replication. The functions of these sequences were demonstrated by deletion mapping, frameshift analysis, and analysis of point mutations. Two 6.1-kb pMG160-based E. coli-R. sphaeroides shuttle cloning vectors were constructed and designated pMG170 and pMG171. These two novel shuttle vectors were segregationally stable in R. sphaeroides growing under nonselective conditions.