The first Japanese familial sotos syndrome with a novel mutation of the NSD1 gene

Sotos syndrome is caused by the haploinsufficiency of the NSD1 gene located in5q35. More than 70% of the Japanese cases carry microdeletions encompassing ofthis gene, while point mutations are common in Caucasians. Only 15 familial cases ofSotos syndrome have been reported and all cases shown to have not microdeletions butpoint mutations. We identified the first Japanese familial case (mother and 3children). They carry the same mutation at splice donor site of intron 13(IVS13+1G>A), which results in the in-frame skipping of exon 13. This is also the firstfamilial case caused by the mutation of the splice donor site. Each member of thisfamily showed variable phenotypes and mental development. The present report willcontribute to further understanding of genotype-phenotype correlation in Sotossyndrome

Adherence of Protease-Deficient Mutants of Pseudomonas aeruginosa to a Rabbit Cornea Cell Line (SIRC) Cells

Seven protease-deficient mutants were isolated from Pseudomonas aeruginosa strain IFO 3455 which was mutagenized with nitrosoguanidine. Characterization of these mutants in vitro revealed that all mutants showed pleiotropic changes in the production of other extracellular substances. Among the mutants, two were chosen for a bacterial adherence test to Rabbit Cornea Cell Line (SIRC) cells. One mutant (IFO 3455-2) completely lost its protease activity. Another (IFO 3455-3) retained a low protease activity and was relatively similar to the parental strain with respect to extracellular products except for protease. Both mutants gave not a marked but a slight decrease of adherence as compared with the parental strain. This finding suggests that besides protease more factors are involved in the adhesion between P. aeruginosa and SIRC cells

Physical and Chemical Factors Affecting the Adherence of Pseudomonas aeruginosa to a Rabbit Cornea Cell Line (SIRC) Cells

Adherence of Pseudomonas aeruginosa to SIRC cells was examined by the use of 14C-lysine labeled organisms. Pretreatment of P. aeruginosa with heating, 3% formaldehyde, or ultraviolet caused a significant decrease in adherence to SIRC cells, whereas that with lipase, hyaluronidase, trypsin or protease did not. Treatment of SIRC cells with trypsin, protease, lipase or neuraminidase did not influence the adherence of P. aeruginosa to the cell. Treatment of P. aeruginosa with mannose or galactose inhibited the adherence, while that with fructose, lactose or glucose did not. Treatment of SIRC cells with galactosidase or mannosidase reduced the adherence of the organism. No correlation was demonstrated between the adhering ability and hydrophobicity of P. aeruginosa. The results suggest that both the viability in bacterial site and mannose and/or galactose molecules in cellular site are closely connected with the adherence of P. aeruginosa to SIRC cells

Use of the Fluorescent Staining Method for Determining the Viability of Mycobacterium lepraemurium

The cell suspension of Mycobacterium lepraemurium was exposed to heating of 40°C to 70°C for various lengths of time. The percent green-fluorescent cell by the midified fluorescein diacetate (FDA) -ethidium bromide (EB) staining method was calculated and compared with the infectivity to mice. The reduction in the percentage was associated significantly with the loss of the infectivity

Novel cryptic exons identified in introns 2 and 3 of the human dystrophin gene with duplication of exons 8-11

The dystrophin gene, which is mutated in Duchenne muscular dystrophy, is thelargest known human gene and characterized by the huge size of its introns. Intron 2has been shown to include cryptic exons termed exons 2a and 2b, while intron 3 hasbeen shown to include a cryptic exon designated exon 3a. In the present study, weidentified 2 and 1 additional cryptic exons in introns 2 and 3, respectively. A previouslyunknown 157-bp insertion was identified between exons 2 and 3 of a dystrophin mRNAisolated from the lymphocytes of a dystrophinopathy patient with duplication of exons8-11. Since this sequence exhibited the typical characteristics of a genomic exon, wedesignated it 'exon 2c-l'. A more detailed examination revealed that a position 4 bpdownstream from the 5' end of exon 2c-l was also used as a splice acceptor site, and thisexon was designated 'exon 2c-s'. In the same patient, a 357-bp insertion was identifiedbetween exons 3 and 4. Since this sequence also showed the typical characteristics of anexon, and its 3' end was the same as the splice donor site of exon 3a, we designated thenovel cryptic exon 'exon 3a-l', and changed the name of the previously reported exon3a to 'exon 3a-s'. Among these novel cryptic exons, exon 3a-l was also incorporatedinto the dystrophin mRNA from normal lymphocytes, whereas exons 2c-l and 2c-s werenot. The physiological or pathophysiological roles of these novel cryptic exons remainto be clarified

Bilateral Optic Disc Anomalies Associated with PAX2 Mutation in a Case of Potter Sequence

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Urinary Titin N-Fragment as a Biomarker of Muscle Atrophy, Intensive Care Unit-Acquired Weakness, and Possible Application for Post-Intensive Care Syndrome

Titin is a giant protein that functions as a molecular spring in sarcomeres. Titin interconnects the contraction of actin-containing thin filaments and myosin-containing thick filaments. Titin breaks down to form urinary titin N-fragments, which are measurable in urine. Urinary titin N-fragment was originally reported to be a useful biomarker in the diagnosis of muscle dystrophy. Recently, the urinary titin N-fragment has been increasingly gaining attention as a novel biomarker of muscle atrophy and intensive care unit-acquired weakness in critically ill patients, in whom titin loss is a possible pathophysiology. Furthermore, several studies have reported that the urinary titin N-fragment also reflected muscle atrophy and weakness in patients with chronic illnesses. It may be used to predict the risk of post-intensive care syndrome or to monitor patients’ condition after hospital discharge for better nutritional and rehabilitation management. We provide several tips on the use of this promising biomarker in post-intensive care syndrome

A Proposal of a Practical and Optimal Prophylactic Strategy for Peritoneal Recurrence

Peritoneal metastasis, which often arises in patients with advanced gastric cancer, is well known as a miserable and ill-fated disease. Once peritoneal metastasis is formed, it is extremely difficult to defeat. We advocated EIPL (extensive intraoperative peritoneal lavage) as a useful and practical adjuvant surgical technique for those gastric cancer patients who are likely to suffer from peritoneal recurrence. In this paper, we review the effect of EIPL therapy on prevention of peritoneal recurrence on patients with peritoneal free cancer cells without overt peritoneal metastasis (CY+/P−) through the prospective randomized study, and we verified its potential as an optimal and standard prophylactic therapeutic strategy for peritoneal recurrence

Gustavo Bolívar : el hombre de las narcotelenovelas

El presente artículo reseñará la principal obra del creador de la narcotelenovela en Colombia, Gustavo Bolívar, quien desde su primer trabajo para la televisión sobre el tema del narcotráfico, Sin tetas no hay paraíso, no dejó de revolucionar el género a través de la escritura de sus siguientes obras: Tres Caínes y cada una de las temporadas de El capo.El present article ressenyarà la principal obra del creador de la narcotelenovel·la a Colòmbia, Gustavo Bolívar, qui des del seu primer treball per la televisió sobre el tema del narcotràfic, com és Sin tetas no hay paraíso, no va deixar de revolucionar el gènere a través de l'escriptura de les seves següents obres, com van ser Tres Caínes i cadascuna de les temporades de El capo.This article focuses on Gustavo Bolívar's work as a creator of the narcotelenovela, genre born in Colombia. Since his first work, Sin tetas no hay paraíso (Without breasts there is no paradise), he revolutions the gener with the writing of Tres Caínes (Three Caínes) and with the three seasons of El Capo