A Novel Ael allele derived from a unique 816insG in Exon 7 of the ABO gene.

The ABO blood group system is the most important blood group system in transfusion medicine. In addition to the major A, B and O alleles, many rare alleles with weak expression of the A or B antigens on RBCs have been defined. We report here the molecular analysis of a novel A(el) allele. Exons 6 and 7 of the ABO gene were PCR-amplified, cloned and sequenced for the propositus, Mr C, who is a 56-year-old Taiwanese male and was incidentally observed to have an A(el) phenotype. His direct family members including wife, son and daughter were subsequently enrolled for further study. Three hundred random blood donors of AB phenotype served as control. A novel A(el) allele was uncovered from the propositus and his daughter, of which a unique 816insG mutation occurred on the A102 background that results in a frame shift leading to a 37-amino acid longer polypeptide than the normal A1 transferase, a finding similar to that of Ael01 allele with 804insG. We found that the C family carried a novel A(el) allele that differs molecularly from seven A(el) alleles reported in the literature.     

Hair follicle: a reliable source of recipient origin after allogeneic hematopoietic stem cell transplantation

Blood, buccal swab and hair follicles are among the most commonly used sources for forensic science, parentage testing and personal identification. A total of 29 patients who have had a sustained engraftment from 15 months to 21.5 years after allogeneic hematopoietic stem cell transplantation (HSCT) without rejection, relapse or chronic GVHD involving oral mucosa were enrolled for a chimerism study. PCR-amplified short tandem repeat analyses were conducted per patient every 3 months for at least three consecutive times. The results for blood were all donor type except one who had a mixed chimerism, 14.5 years after receiving a transplant for lymphoma. As for buccal swab, mixed chimerism ranging from 10 to 96% donor origin was noted for 28 recipients except the one who had mixed chimerism of blood and retained total recipient type. In contrast, hair follicles were 100% recipient type for the entire group. It is concluded that the hair follicle is devoid of adult stem cell plasticity and may serve as a reliable source of recipient's origin when pre-transplant DNA fingerprinting or reference DNA is not available for people who have successfully received allogeneic HSCT while in need of a personal identification.     

Sonoelastographic Strain Index for Differentiation of Benign and Malignant Nonpalpable Breast Masses

Objective. The purpose of this study was to evaluate the diagnostic potential of the sonoelastographic strain index for differentiation of nonpalpable breast masses. Methods. Ninety‐nine nonpalpable breast masses (79 benign and 20 malignant) in 94 women (mean age, 45 years; range, 21–68 years) who had been scheduled for a sonographically guided core biopsy were examined with B‐mode sonography and sonoelastography. Radiologists who had performed the biopsies analyzed the B‐mode sonograms and provided American College of Radiology Breast Imaging Reporting and Data System categories. The strain index (fat to lesion strain ratio) was calculated by dividing the strain value of the subcutaneous fat by that of the mass. The histologic result from the sonographically guided core biopsy was used as a reference standard. The diagnostic performance of the strain index and that of B‐mode sonography were compared by receiver operating characteristic (ROC) curve analysis. Results. The mean strain index values ± SD were 6.57 ± 6.62 (range, 1.29–28.69) in malignant masses and 2.63 ± 4.57 (range, 0.54–38.76) in benign masses (P = .019). The area under the ROC curve values were 0.835 (95% confidence interval [CI], 0.747–0.902) for B‐mode sonography and 0.879 (95% CI, 0.798–0.936) for the strain index (P = .490). The sensitivity, specificity, positive predictive value, and negative predictive value were 95% (19 of 20), 75% (59 of 79), 48% (19 of 39), and 98% (59 of 60), respectively, when a best cutoff point of 2.24 was used. Conclusions. The strain index based on the fat to lesion strain ratio has diagnostic performance comparable with that of B‐mode sonography for differentiation of benign and malignant breast masses.     

Role of estrogen receptors and aromatase on brain protein synthesis rates in ovariectomized female rats fed genistein

We have reported that the dietary addition of genistein, a phytoestrogen found abundantly in soy products, stimulates brain protein synthesis rates of ovariectomized female rats. In the present study, we determine whether stimulation of brain protein synthesis rates in ovariectomized female rats by the dietary addition of genistein was conducted via estrogen receptors and aromatase-mediating actions. After ovariectomy, Wistar female rats were treated with genistein, the estrogen receptor antagonist ICI 182,780, and/or fadrozole a systemic aromatase inhibitor. In the cerebral cortex, the cerebellum and the hypothalamus, the fractional (Ks) rates of protein synthesis were increased by the dietary addition of genistein. These effects of genistein were inhibited by the administration of ICI 182,780 and fadrozole. However, the degrees to which ICI 182,780 and fadrozole inhibited the effects of genistein differed depending on the brain region. This result suggests that dietary genistein elevates the rate of protein synthesis in the brain of ovariectomized female rats. In addition, the estrogen receptors of the brain and the aromatase of the peripheral tissue and brain are, at least partly, related to the rate of brain protein synthesis caused by genistein.     

Towards profiling the gene expression of fibroblasts from atopic dermatitis patients: human 8K complementary DNA microarray

BACKGROUND: High-throughput technologies, including DNA-chip array, have been used to search for the genes that are dysregulated in human diseases. The atopic dermatitis (AD)-associated genes are gradually being reported; however, the differentially altered gene expression profiles of atopic fibroblasts have not been well elucidated. OBJECTIVE: We wanted to gain more insights into AD and to find candidate genes, especially in regards to the role of fibroblasts in the pathogenesis of AD. METHODS: cDNA microarray (8K) profiling of the primary cultured AD patients-derived fibroblasts was conducted by a pooling method of the recruited 22 normal controls, the 10 extrinsic type (ADe) patients and the 10 intrinsic type (ADi) patients. SAM analysis of the microarray results (2-fold cut-off) was conducted to select the candidate genes. Quantification by real-time PCRs confirmed the array data in the randomized paired samples (normal vs. ADe n=10; normal vs. ADi n=10). RESULTS: We listed the 22 up-regulated and 95 down-regulated genes in the AD fibroblasts. Real-time PCR results showed that several genes such as hyaluronan synthase 2 (HAS2), TNF-alpha-induced protein 6 (TNFAIP6) and IL-8 were matched with the array results with statistical significance. CONCLUSION: These results suggest gene expression profiles that are associated with AD and this implied that fibroblasts may play important roles in the AD pathogenesis. We provided new insights into three candidate genes such as HAS2, TNFAIP6 and IL-8 with respect to their involvement in AD disease.     

Effect of adding dietary methionine to a low soy protein diet on the brain protein synthesis rate in ovariectomized female rats

A deficiency of sex hormones affects brain function in mammals, including the decrease of protein synthesis. Recently, we have shown that the protein synthesis in the brain depended on the quality of dietary protein in ovariectomized female rats. The methionine is the first limiting amino acid for the recommended dietary allowance of amino acids in soy protein. The purpose of this study was to determine whether the addition of dietary methionine affected the rate of brain protein synthesis in ovariectomized female rats fed on the soy protein diet. Experiments were conducted on two groups of ovariectomized female rats (24 week) given the diets containing 5% soy protein or 5% soy protein + 0.2% methionine for 10 d. The fractional rates of protein synthesis in cerebral cortex and cerebellum significantly increased with an addition of dietary methionine. In the brain, the RNA activity [g protein synthesized/((g RNA) x d)] was significantly correlated with the fractional rate of protein synthesis. The RNA concentration (mg of RNA/g of protein) was not related to the fractional rate of protein synthesis in any organ. The results suggest that the addition of limiting amino acid for the low soy protein elevates the rate of protein synthesis in the brain of ovariectomized female rats, and that RNA activity is at least partly related to the fractional rate of brain protein synthesis.