Possible interaction of genotypes at cystathionine β-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects

Neural tube defects are a common, complex disorder with genetic and environmental components to risk. We investigated the previously reported interaction between homozygosity for the thermolabile variant at the methylenetetrahydrofolate reductase and heterozygosity for the 844ins68 allele at the cystathionine beta-synthase loci in cases with lumbosacral myelomeningocele and their parents. Using control allele frequencies from our sample pooled with those published in the literature, we confirm a marginally significant interaction at these two loci. This finding suggests that additional, larger studies are warranted to investigate this possible interaction in more detail.     

Treatment of Surgical Scars with the Cryogen-Cooled 595 nm Pulsed Dye Laser Starting on the Day of Suture Removal

BACKGROUND: Cosmetic results after skin surgery are a key component of patient satisfaction and self-image. Various lasers have been used to attempt scar improvement, without consistent results. The optimal time to initiate laser treatment has not been determined. A recent study using a noncooled 585 nm pulsed dye laser starting on the day of suture removal demonstrated substantial improvement in scar appearance. OBJECTIVE: To determine the efficacy of the 595 nm cryogen-cooled pulsed dye laser in the treatment of surgical scars starting on the day of suture removal. METHODS: Sixteen patients with postoperative linear scars of greater than 2 cm were treated three times at 4- to 8-week intervals with a 595 nm cryogen-cooled pulsed dye laser. All patients had Fitzpatrick skin types I to IV. Each scar was divided at the midline into two fields, with half receiving treatment using a 7 mm spot size at 1.5 ms with 8 J/cm2 and a 30 ms spray duration with a 10 ms delay. The other half was not treated. Scars were evaluated for pigmentation, vascularity, pliability, and height by a blinded examiner using the Vancouver Scar Scale (VSS). In addition, the same blinded examiner evaluated the cosmetic appearance using a scale from 0 (worst) to 10 (best) prior to the second treatment and 1 month after the final treatment. RESULT: SThe average sum of all parameters in the VSS showed significant improvement from 1-month post-treatment to the final evaluation of 60% compared with the control of -3%. Also, scars in the treated portions scored an average of 2 points higher in the overall cosmetic appearance by the same blinded examiner based on a scale of 0 (worst) to 10 (best). Among the individual parameters in the VSS, the most significant improvements were found in vascularity and pliability. CONCLUSION: The cryogen-cooled 595 nm pulsed dye laser is a safe and effective option to improve the cosmetic appearance of surgical scars in skin types I to IV starting on the day of suture removal.     

德军应用空客A-310医疗后送运输机执行海啸医学救援任务

2004年12月26日,苏门答腊外海的一次海底地震引发的海啸袭击了东南亚沿海大部分地区,包括拥有大量游客的泰国旅游胜地普吉岛。最初报道称约有100人死亡,300人受伤,后续报道中死亡和受伤的人数急剧上升。得到最初消息后,德国空军空运司令部立即做好了用空客A-310MRT医疗后送飞机     

Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype–phenotype correlation

Marfan syndrome (MFS) is a multisystemic disease associated with mutations in the fibrillin-1 gene. Most of the reported mutations are missense substitutions mainly affecting the epidermal growth factor (EGF)-like protein domain structure and the calcium-binding (cb) site. The aim of our study was to investigate the correlation between fibrillin-1 frameshift mutations and the clinical phenotype in patients affected by MFS. In 48 out of 66 Marfan patients a pathogenetic mutation was found. We detected novel mutations causing premature termination codon in exons 19, 37, 40 and 41 of four Italian patients. The first mutation in exon 19 (cbEGF #8 domain) results in a clinical phenotype involving mainly the skeletal and cardiovascular systems. Interestingly, we noticed that, while mutations in exons 37 and 41 (eight cysteine domains #4 and #5) are milder, the mutation in exon 40 (cbEGF #24 domain) is more severe and causes major cardiovascular involvement with thoracic and abdominal aortic aneurysms. It is noteworthy that the degree of the severity in the phenotype of one of our patients and another from the literature carrying a mutation in exon 41 could be explained with alterations in mRNA expression.     

Chronic expression of P-selectin on endothelial cells stimulated by the T-cell cytokine, interleukin-3

P-selectin expressed on the surface of endothelium mediates leukocyte adhesion in vitro and rolling in vivo. Several inducers of cell-surface P-selectin expression on endothelial cells (EC) have previously been identified, all of which yield transient cell-surface expression of P- selectin lasting minutes to a few hours. We now show that a T- lymphocyte product, interleukin-3 (IL-3), stimulates the long-term endothelial cells (HUVEC). IL-3 induced cell-surface P-selectin expression in two phases. An initial peak at 10 minutes was followed by a prolonged upregulation beginning 16 hours after IL-3 addition and lasting at least 4 days. The level of P-selectin expression induced by IL-3 added for 48 hours was similar to that induced by treatment of HUVEC for 10 minutes with thrombin, and the effect of adding IL-3 for 48 hours followed by thrombin for 10 minutes was additive. Induction of cell-surface P-selectin expression by IL-3 was blocked by pretreatment of EC with a blocking monoclonal antibody against the IL-3 receptor alpha-chain. Lipopolysaccharide (LPS), tumor necrosis factor alpha (TNF alpha) and a mutant form of IL-3 with decreased potency did not induce cell-surface P-selectin expression after 48 hours' incubation with HUVEC, suggesting that the effect was specific to IL-3. The increase in cell-surface P-selectin expression occurring after 16 hours of incubation with IL-3 was accompanied by a similar prolonged increase in the steady-state mRNA level that was not observed at 10 minutes after IL-3 addition. As T-lymphocyte infiltration is a hallmark of chronic inflammation, our observations suggest that the secretion of IL-3 by T lymphocytes may serve to maintain the inflammatory state during chronic inflammation.