Ein neuer Score für die tägliche Schweregradklassifizierung auf herzchirurgischen Intensivstationen

Zusammenfassung Einleitung: Das Ziel dieser Studie war die Entwicklung eines spezifischen Schweregradklassifizierungssystems für die Beurteilung und Vorhersage von Organfunktionsstörungen und Überleben bei herzchirurgischen Intensivpatienten. Methoden: Hierzu wurden konsekutiv alle erwachsenen Patienten nach einem herzchirurgischen Eingriff unter Einsatz der Herzlungenmaschine über einen Zeitraum von 3 Jahren in die Studie aufgenommen. Im Konstruktionsset erfolgte die Auswahl der Variablen mit Hilfe der Patienten, die mindestens 24 Stunden auf der Intensivstation verbrachten. Die Ergebnisse wurden dann in zwei Validierungssets mit allen Intensivpatienten überprüft. Die Qualität des Scores wurde mit dem Hosmer-Lemeshow-Test (HL) sowie der ROC-Analyse beurteilt, und mit dem APACHE-II- und dem MODS-Score verglichen. Ergebnisse: Insgesamt wurden 3230 Patienten über einen Zeitraum von 3 Jahren auf unserer Intensivstation aufgenommen. Die HL-Werte für den neuen Score waren 5,8 (APACHE-II: 11,3; MODS: 9,7) für das Konstruktionsset, 7,2 (APACHE-II: 8,0; MODS: 4,5) für das Validierungsset I und 5,9 für das Validierungsset II. Die Fläche unter der ROC-Kurve war 0,91 (APACHE-II: 0,86; MODS: 0,84) für den neuen Score im Konstruktionsset, 0,88 (APACHE-II: 0,84; MODS: 0,84) in dem Validierungsset I, und 0,92 in dem Validierungsset II. Schlussfolgerung: Der neue CASUS (Cardiac Surgery Score) zeigt für herzchirurgische Intensivpatienten eine exzellente Kalibrierung und Diskriminierung bezüglich der 30-Tage-Letalität. Die Variablen des CASUS sind einfach, reproduzierbar und werden routinemäßig in herzchirurgischen Intensivstationen erfasst. Der CASUS könnte als Expertensystem für das Diagnostizieren von Organfunktionsstörungen, der Entscheidungsfindung, der Ressourcenauswertung und Vorhersage der Letalität für herzchirurgische Intensivpatienten dienen.     

Multimodale Behandlung einer Alopecia universalis

Alopecia universalis is characterized by total loss of body hair and can occur at any age, causing significant psychological morbidity in most cases. Though there is evidence to suggest that alopecia universalis is an autoimmune disease, the cause of the disease is still not known with certainty. Spontaneous recovery is unusual (<10%), and the long-term prognosis in cases not responding to therapy is poor, despite the variety of therapies available. Experience of immunosuppressive treatment in children with alopecia universalis is limited. We report on a 4-year-old boy, who was successfully treated for refractory alopecia universalis with prednisolone and cyclosporine A by mouth combined with topical application of tacrolimus. Our case report shows that systemic immunosuppression may be a promising treatment option for some children with alopecia universalis who are badly distressed by their condition. However, potential treatment-related risks have to be weighed against the psychosocial stress experienced by these patients and their families.     

Setleis (bitemporal 'forceps marks') syndrome in a German family: evidence for autosomal dominant inheritance.

The Setleis syndrome is a rare disorder characterized by predominantly facial findings, including bitemporal skin changes resembling forceps marks. Autosomal recessive inheritance of this distinct condition has been proposed. We report on a typically affected German boy whose father shows a much milder expression, thus suggesting autosomal dominant inheritance.     

F-19 MR imaging of glucose metabolism in the rabbit

Noninvasive metabolic magnetic resonance (MR) imaging reflecting glucose metabolism in the aldose-reductase-sorbitol (ARS) pathway was performed in the rabbit head; after administration of the fluorinated glucose analogue 3-fluoro-3-deoxy-D-glucose (3FD-glucose), fluorine-19 images were generated. Images of 3FD-glucose showed significant 3FD-glucose uptake by adipose tissue, indicating its buffering effects in case of excess loads of glucose. Images of 3-fluoro-3-deoxy-D-sorbitol (3FD-sorbitol) demonstrated the spatial distribution of aldose reductase activities and significant sorbitol accumulation in the lens. Images of 3-fluoro-3-deoxy-D-fructose (3FD-fructose) showed preferential uptake of fructose by muscle tissue. The extremely low toxicity of 3FD-glucose indicates promise for its clinical application in metabolic imaging.     

大鼠移植心脏组织中血小板衍生生长因子A mRNA表达及雷帕霉素的干预效应

目的:血小板衍生生长因子在平滑肌细胞的表型转化过程中起重要作用。观察大鼠移植心脏组织中血小板衍生生长因子AmRNA表达的变化及雷帕霉素的干预效应。方法:实验于2005-10/2006-01在中南大学湘雅二医院胸心外科实验室完成。将60只SD大鼠、24只Wistar大鼠按随机数字表法分为3组:①同系移植组:供、受体各12只,均为SD大鼠。②异系移植组:供体为Wistar大鼠(n=24),受体为SD大鼠(n=24),受体大鼠随机分为雷帕霉素组(n=12)和环孢霉素组(n=12),术后分别给予雷帕霉素1.25mg/(kg·d)灌胃及环孢霉素A10mg/(kg·d)皮下注射,给药60d,给药结束后留取移植心脏待检。③另12只SD大鼠直接取心脏组织作为正常对照组。指标检测:①对移植心脏组织行VanGieson染色后采用Miassystem4.1医学图像分析管理系统分析血管狭窄程度。②应用反转录-聚合酶链反应检测血小板衍生生长因子AmRNA在移植心脏组织中的表达情况。结果:36只受体SD大鼠及12只正常SD大鼠全部进入结果分析,无脱失。①同系移植组、环孢霉素组及雷帕霉素组大鼠的冠状动脉狭窄指数均显著高于正常对照组[(13.12±0.72)%,(62.45±8.12)%,(28.91±3.24)%,(0.09±0.02)%(P<0.01)],环孢霉素组及雷帕霉素组高于同系移植组(P<0.05),环孢霉素组高于雷帕霉素组(P<0.01)。②正常对照组、同系移植组、环孢霉素组及雷帕霉素组大鼠的血小板衍生生长因子AmRNA相对含量分别为0.19±0.06,0.21±0.08,1.12±0.22及0.47±0.11,环孢霉素组、雷帕霉素组显著高于同系移植组(P<0.01),环孢霉素组高于雷帕霉素组(P<0.05)。结论:血小板衍生生长因子AmRNA的高表达与移植心脏的血管硬化有关;雷帕霉素具有预防大鼠心脏移植物血管病变的作用,其作用可能与抑制心脏组织中血小板衍生生长因子AmRNA的表达有关。     

Fra(X) frequency on the active X-chromosome and phenotype in heterozygous carriers of the fra(X) form of mental retardation

Female heterozygotes of the fra(X) form of mental retardation show variable degrees of mental impairment and phenotype expression of the disorder. This might be an effect of inactivation of the X-chromosome which carries the fra(X)(q). Prior replication studies in heterozygous carriers gave contradictory results with respect to possible genotype-phenotype correlation. In the interpretation of these studies it is important to understand the effect of BrdU on the fra(X)(q) expression. In a group of 13 hemizygous patients with fra(X)(q) and 7 heterozygous carriers we studied the effect of BrdU on fra(X) expression. In the heterozygous carriers the use of BrdU resulted in a significant suppression of the fra(X)(q), while in hemizygous patients no difference in fra(X)(q) frequency with or without BrdU could be observed. It can be concluded that BrdU suppresses the fra(X)(q) preferentially on the inactive X-chromosome. Thus the fra(X)(q) frequency on the active X-chromosome is of primary importance in phenotype correlation studies among heterozygous carriers. In our group of heterozygous carriers we observed a negative correlation between (IQ) phenotype and fra(X)(q) expression on the active X-chromosome. This suggests that the gene for the fra(X)(q) form of mental retardation is on the X-chromosome and undergoes inactivation.     

Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.

Five novel mutations have been identified in the gene encoding L1CAM, a neural cell adhesion protein, in families with X linked hydrocephalus (XHC). Interestingly, all five mutations are in the evolutionarily highly conserved Ig-like domains of the protein. The two frameshift mutations (52insC and 955delG) and the nonsense mutation (Trp276Ter) most probably result in functional null alleles and complete absence of L1CAM at the cell surface. The two missense mutations (Tyr194Cys and Pro240Leu) may considerably alter the structure of the L1CAM protein. These data provide convincing evidence that XHC is genetically extremely heterogeneous.