Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa.

Dystrophic epidermolysis bullosa (DEB) is a series of severe genetic conditions affecting skin and nails caused by mutations in the COL7A1 gene. DEB has a strong phenotypic variability. In the present study, we recruited a case with a boy exhibiting typical DEB indication, and performed a clinical, genetic, and experimental investigation, followed by a prenatal diagnosis on their current pregnancy. Whole exome sequencing identified a novel compound heterozygous variation in COL7A1, consisting of two variants, namely c.191T>C (p.Leu64Pro) and c.5124G>A (p.Leu1708=) in the proband. In vitro study by minigene system indicated that c.5124G>A would result in an increased ratio of a transcript with exon-skipping, which supported its pathogenicity. Further prenatal detection confirmed the genotype-phenotye co-separation in this family. In conclusion, the findings in our study expanded the mutation spectrum of DEB, and emphasized the importance of paying attention to specific synonymous variants in the filtering process.

[Distribution, flux and photoproduction of carbon monoxide in the Yellow Sea and the Bohai Sea in spring].

Concentration distribution, sea-to-air flux, photoproduction of carbon monoxide (CO) in the surface seawater and atmospheric CO mixing ratio were measured in the Yellow Sea and the Bohai Sea. A headspace analysis system was used for CO measurement. The concentrations of CO in the surface seawater ranged from 0.19 to 3.57 nmol x L(-1), with an average of 1.24 nmol x L(-1) ( SD = 0.79, n = 69). Overall, the concentrations of CO displayed a decreasing trend from the coast to the offshore stations and followed diurnal variations after classifying and averaging the CO concentrations according to sampling and analysing time in the unit of one hour, with the maximum values in midnoon which was 10 folds higher than the minimum values in predawn. Atmospheric CO mixing ratios varied from 215 x 10(-9) to 850 x 10(-9), with an average of 414 x 10(-9) (SD = 140 x 10(-9), n = 69), due to obvious terrestrial input. The supersaturation factors of CO varied from 0.42-18.90, with an average of 3.61 (SD = 2.99, n = 69), indicating that the Yellow Sea and the Bohai Sea was a net source of atmospheric CO. The average sea-to-air fluxes of CO from the Yellow Sea and the Bohai Sea were estimated to be (1.22 +/- 1.70) micromol x (m2 x d)(-1) by the LM86 equation and (2.13 +/- 2.91) micromol x (m2 x d)(-1) by the W92 equation, respectively. Using SMARTS2 spectral irradiance model to estimate CO production, the photoproduction rate of CO was 54.60 micromol x (m2 x d)(-1) and the photoproduction of carbon in the Yellow Sea and the Bohai Sea was 26.95 x 10(9) g in spring. The photoproduction rate of CO was 25-50 times higher than the sea-to-air flux, suggesting that most part of CO was removed by microbial process in the surface seawater.

Comparison of contrast enhanced ultrasound and contrast enhanced CT or MRI in monitoring percutaneous thermal ablation procedure in patients with hepatocellular carcinoma: a multi-center study in China.

To evaluate the ability of contrast enhanced ultrasound (CEUS) in monitoring percutaneous thermal ablation procedure in patients with hepatocellular carcinoma (HCC) in comparison with contrast enhanced computed tomography (CECT) and/or magnetic resonance imaging (CEMRI). A total of 151 patients were enrolled in the study. Before the radio-frequency (RF) or microwave ablation treatment, tumor vascularity was assessed in 139 patients with three imaging modalities i.e., US (139 exams), CEUS (139 exams) and CECT (103 exams)/CEMR (36 exams). CEUS examination was performed using a sulphur hexafluoride-filled microbubble contrast agent (SonoVue((R)), Bracco, Milan, Italy) and real-time contrast-specific imaging techniques. Within 30 +/- 7 d after the ablation procedure, 118/139 patients were monitored to assess the tumor response to treatment. Before ablation, contrast enhancement within tumor was observed in 129/139 (92.8%) patients with CEUS and 133/139 (95.7%) patients with CECT/CEMRI. Compared with CECT/CEMRI, CEUS sensitivity and accuracy in detecting tumor vascularity were 97.0% and 94.2%, respectively. One month after treatment, no enhancement was seen in 110/118 (93.2%) both on CEUS and CECT/CEMRI. Concordance between CEUS and CECT/CEMR on the presence of residual vascularization was obtained in four patients (true positive). The specificity and accuracy of CEUS in detecting tumor vascularity were 98.2% and 96.6%, respectively. The periprocedural impact of SonoVue administration on the assessment of treatment extent was also evaluated in a subgroup of patients and CEUS showed its superiority compared with baseline US in defining treatment outcome. In conclusion, in the detection of HCC tumor vascularity and assessment of response to thermal ablation after 1 month, real time CEUS provided results comparable to those obtained with CECT/CEMRI. CEUS examination proved to be a safe and easy to access procedure, with potential for diagnostic impact in the clinical practice.

Transplantation of angiogenin-overexpressing mesenchymal stem cells synergistically augments cardiac function in a porcine model of chronic ischemia.

OBJECTIVE: Accumulated evidence suggests that myogenesis and angiogenesis induced by implanted cells play important roles in restoring cardiac function after a myocardial infarction. The current study investigated the effects of transplanted autologous mesenchymal stem cells overexpressing angiogenin on myocardial perfusion and cardiac function in the porcine chronic ischemic model. METHODS: Chronic ischemia was generated in Yorkshire pigs by placing an ameroid constrictor around the left circumflex artery. Four weeks after occlusion, the animals were randomly separated into 4 groups: pigs in the MSC(AdAng) or MSC(AdNull) groups were implanted with 6 x 10(8) mesenchymal stem cells infected with adenovirus containing angiogenin gene or null adenovirus, respectively; pigs in the AdAng or AdNull groups were injected intramyocardially with adenovirus (5 x 10(9) plaque forming unit/pig) containing angiogenin gene or null adenovirus, respectively. Four weeks after implantation, mesenchymal stem cells prelabeled with DiI were observed within the implanted area in both cell transplantation groups. RESULTS: Angiogenin protein levels were significantly greater in the MSC(AdAng) and AdAng groups than in the other 2 groups and were associated with greater neovessel formation than in the other 2 groups. Mesenchymal stem cell transplantation decreased scar size and increased scar thickness. Both the AdAng and MSC(AdNull) groups experienced improved cardiac function compared with that seen in the AdNull group. However, a synergistic effect of mesenchymal stem cells and angiogenin was observed in the MSC(AdAng) group because myocardial perfusion and cardiac function increased significantly (P < .05 for all groups) in this group compared with all the others. CONCLUSIONS: Transplantation of autologous mesenchymal stem cells transfected with the angiogenin gene revealed a synergistic effect on the improvement of heart perfusion and function after ameroid occlusion.

Experimental study of acute organophosphorus compound poisoning in rabbit kidneys by ultrasonic tissue characterization.

OBJECTIVE: The purpose of this study was to investigate the value of integrated backscatter (IBS) of kidneys in acute organophosphorus compound poisoning in rabbits. METHODS: Eighteen rabbits were poisoned by dimethyl dichlorovinyl phosphate to establish animal models. Sonographic examinations were performed before (T0) and after (T1-T9) the rabbits were poisoned. The echo and size of kidneys were evaluated by 2-dimensional gray scale sonography. Changes of the renal cortex and medulla were analyzed quantitatively with IBS. RESULTS: No change of the cortex echo was found before and after poisoning. A significant change of the volume of kidneys on both sides began at T6 compared with that at T0 (P < .05). A significant change of renal length on both sides began at T7 compared with that at T0 (P < .05). The volume change was earlier than that of length. A significant change in IBS% of the renal cortex began at T5 compared with that at T0 (P < .05), whereas a significant change in IBS% of the renal medulla began at T6 compared with that at T(0) (P < .05). The change in IBS% of the renal cortex was earlier. CONCLUSIONS: More useful information provided by IBS% has been found in acute organophosphorus compound poisoning in rabbits.