在非裔美国人中用1％吡美莫司软膏治疗伴色素减退的脂溢性皮炎的先导性试验

背景:非裔美国人发生脂溢性皮炎时可伴色素减退。治疗通常应用皮质激素和抗真菌药,然而长期使用皮质激素可导致皮肤萎缩,眼内压增高,或加重色素减退。吡美莫司已被成功用于治疗一些脂溢性皮炎患者。目的:此开放性预试验用于评估吡美莫司治疗非裔美国人中伴色素减退的脂溢性皮炎     

A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome

Vohwinkel syndrome (VS) is a family of genodermatoses which exhibits extensive clinical and genetic heterogeneity. Here, we studied a pedigree originating from the UK with typical features of the ichthyotic variant of VS and identified a recurrent insertion mutation in the loricrin gene resulting in a mutant polypeptide with an unusual C terminus. Functional studies in transgenic mice have shown that the accumulation of mutant loricrin in the nucleus appears to interfere with the later stages of epidermal differentiation, thereby explaining the clinical manifestations of ichthyosis, keratoderma and pseudoainhum. Our findings extend the body of evidence implicating mutations in the loricrin gene as the underlying cause of VS.     

Familial Nephropathic Non-neuropathic Amyloidosis: Clinical Features, Immunohistochemistry and Chemistry

Classification of familial amyloidosis by the chemical natureof the fibrillar protein has become possible. Most such amyloidogenicproteins so far recognized are variant transthyretins, but twokindreds with the same apolipoprotein AI modification have beenreported. We describe the clinical features of another suchfamily in whom petechial skin rash appeared to be a marker forthe disease, which was non-neuropathic and of the Ostertag-type.Immunohistochemistry showed the protein to be apolipoproteinAI, but allele-specific DNA amplification indicated that itwas not the Arg²⁶ variant previously identified.     

Evaluation of bacterial contamination after “pure” (totally) transvaginal NOTES® diagnostic peritoneoscopy with biopsies in swine: a comparative study with laparoscopy

Introduction

Bacterial contamination from viscerotomy is a barrier to natural orifice translumenal endoscopic surgery (NOTES). The aim of this survival study is to evaluate pure (totally) transvaginal NOTES bacterial contamination compared with laparoscopy in pigs.

Methods

Twelve adult female pigs underwent peritoneoscopy with liver and peritoneal biopsies, using either laparoscopy (Glap, six animals) or pure transvaginal (GNOTES) access, and were maintained alive for 7 days. In all animals, blood cultures were taken at baseline, and after 24 h and 7 days postoperatively. Swab cultures from vagina (GNOTES) and skin (Glap) were obtained pre- and post-antisepsis. Peritoneal fluid culture was obtained at necropsy. For statistical analysis, Glap and GNOTES were compared for presence of positive bacterial cultures (qualitative bacterial analysis) using Fisher’s test, with level of significance set at p < 0.05.

Results

All animals had good postoperative outcome. One animal had transient perioperative bleeding from a transvaginal access. Two animals in Glap and one in GNOTES had positive blood cultures after the procedure. All animals from GNOTES and Glap presented with mixed flora pre-antisepsis. After antisepsis, one animal (GNOTES) presented with a positive vaginal swab culture (a single bacterial strain was identified). There was no positive skin swab culture in Glap. There were no signs of intra-abdominal infection at necropsy. In two animals, one from Glap and another from GNOTES, intra-abdominal culture was positive for Corynebacterium spp. and Escherichia coli, respectively. There was no correlation between the bacterial flora found at the access site and in the peritoneal cultures.

Conclusions

Pure transvaginal peritoneoscopy with liver and peritoneal biopsy in swine is feasible and associated with bacterial contamination comparable to laparoscopy. Peritoneal bacterial contamination was clinically insignificant after 1 week postoperatively. Preoperative antisepsis provided significant reduction of bacterial load prior to transvaginal and laparoscopic procedures.     

How do hypertrophic cardiomyopathy mutations affect myocardial function in carriers with normal wall thickness? Assessment with cardiovascular magnetic resonance

Background

Clinical data on myocardial function in HCM mutation carriers (carriers) is sparse but suggests that subtle functional abnormalities can be measured with tissue Doppler imaging before the development of overt hypertrophy. We aimed to confirm the presence of functional abnormalities using cardiovascular magnetic resonance (CMR), and to investigate if sensitive functional assessment could be employed to identify carriers.

Results

28 carriers and 28 controls were studied. Global left atrial (LA) and left ventricular (LV) dimensions, segmental peak systolic circumferential strain (SCS) and peak diastolic circumferential strain rate (DCSR), as well as the presence of late Gadolinium enhancement (LGE) were determined with CMR. Septal and lateral myocardial velocities were measured with echocardiographic tissue Doppler imaging. lv mass and volumes were comparable between groups. Maximal septal to lateral wall thickness ratio (SL ratio) was larger in carriers than in controls (1.3 ± 0.2 versus 1.1 ± 0.1, p < 0.001). Also, LA volumes were larger in carriers compared to controls (p < 0.05). Both peak SCS (p < 0.05) and peak DCSR (p < 0.01) were lower in carriers compared to controls, particularly in the basal lateral wall. Focal LGE was present in 2 carriers and not in controls. The combination of a SL ratio >1.2 and a peak DCSR <105%.s^-1 was present in 45% of carriers and in none of the controls, yielding a positive predictive value of 100%. Two carriers and 18 controls had a SL ratio < 1.2 and peak DCSR >105%.s^-1, yielding a negative predictive value of 90%. With multivariate analysis, HCM mutation carriership was an independent determinant of reduced peak SCS and peak DCSR.

Conclusions

HCM mutation carriership is an independent determinant of reduced peak SCS and peak DCSR when LV wall thickness is within normal limits, and is associated with increased LA volumes and SL ratio. Using SL ratio and peak DCSR has a high accuracy to identify carriers. However, since carriers also display structural abnormalities and focal LGE, we advocate to also evaluate morphology and presence of LGE when screening for carriers.