http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
Mutations in SLC26A1 Cause Nephrolithiasis
Gee, H.Y.,Jun, I.,Braun, D.A.,Lawson, J.A.,Halbritter, J.,Shril, S.,Nelson, C.P.,Tan, W.,Stein, D.,Wassner, A.J.,Ferguson, M.A.,Gucev, Z.,Sayer, J.A.,Milosevic, D.,Baum, M.,Tasic, V.,Lee, M.G.,Hildebr University of Chicago Press [etc.] 2016 American journal of human genetics Vol.98 No.6
<P>Nephrolithiasis, a condition in which urinary supersaturation leads to stone formation in the urinary system, affects about 5%-10% of individuals worldwide at some point in their lifetime and results in significant medical costs and morbidity. To date, mutations in more than 30 genes have been described as being associated with nephrolithiasis, and these mutations explain about 15% of kidney stone cases, suggesting that additional nephrolithiasis-associated genes remain to be discovered. To identify additional genes whose mutations are linked to nephrolithiasis, we performed targeted next-generation sequencing of 18 hypothesized candidate genes in 348 unrelated individuals with kidney stones. We detected biallelic mutations in SLC26A1 (solute carrier family 26 member 1) in two unrelated individuals with calcium oxalate kidney stones. We show by immunofluorescence, immunoblotting, and glycosylation analysis that the variant protein mimicking p.Thr185Met has defects in protein folding or trafficking. In addition, by measuring anion exchange activity of SLC26A1, we demonstrate that all the identified mutations in SLC26A1 result in decreased transporter activity. Our data identify SLC26A1 mutations as causing a recessive Mendelian form of nephrolithiasis.</P>
The Impact of Perforator Number on Deep Inferior Epigastric Perforator Flap Breast Reconstruction
Grover, Ritwik,Nelson, Jonas A.,Fischer, John P.,Kovach, Stephen J.,Serletti, Joseph M.,Wu, Liza C. Korean Society of Plastic and Reconstructive Surge 2014 Archives of Plastic Surgery Vol.41 No.1
Background Perforator flaps minimize abdominal site morbidity during autologous breast reconstruction. The purpose of this study was to assess whether the number of perforators harvested influences the overall deep inferior epigastric perforator (DIEP) flap survival and flap-related complications. Methods A retrospective review was performed of all DIEP flaps performed at the Hospital of the University of Pennsylvania from 2006 to 2011. The outcomes assessed included flap loss and major complications. We compared flaps by the number of total perforators (1-4) and then carried out a subgroup analysis comparing flaps with one perforator to flaps with multiple perforators. Lastly, we conducted a post-hoc analysis based on body mass index (BMI) categorization. Results Three hundred thirty-three patients underwent 395 DIEP flaps. No significant differences were noted in the flap loss rate or the overall complications across perforator groups. However, the subgroup analysis revealed significantly higher rates of fat necrosis in the case of one-perforator flaps than in the case of multiple-perforator flaps (10.2% vs. 3.1%, P=0.009). The post-hoc analysis revealed a significant increase in the flap loss rate with increasing BMI (<30=2.0%, 30-34.9=3.1%, 35-39.9=3.1%, >40=42.9%, P<0.001) in the DIEP flaps, but no increase in fat necrosis. Conclusions This study demonstrates that the number of perforators does not impact the rate of flap survival. However, the rate of fat necrosis may be significantly higher in DIEP flaps based on a single perforator. Multiple perforators should be utilized if possible to decrease the risk of fat necrosis.
Ambar Oyarzábal-Yera,Sandra Rodríguez-Salgueiro,Nelson Merino-García,Leyanis Ocaña-Nápoles,Lucía González-Núñez,Licet Mena-Valdés,Zullyt Zamora-Rodríguez,José A. Medina-Pírez,Sonia Jiménez-Despaigne,V 대한신장학회 2019 Kidney Research and Clinical Practice Vol.38 No.4
Background: Acute kidney injury (AKI) induced by renal ischemia/reperfusion (IR) is associated with enhanced production of reactive oxygen species in renal tissues. D-005, a lipid extract obtained from Acrocomia crispa fruit, has previously shown antioxidant effects. The aim of this work was to evaluate the effects of D-005 on renal IR-induced AKI in rats. Methods: Rats were randomized into seven groups including a negative control group (vehicle) without AKI and six groups with renal IR-induced AKI as follows: a positive control (vehicle); D-005 treatment at 25, 100, 200, or 400 mg/kg; and dexamethasone at 3 mg/kg. All treatments were orally administered as single doses 1 hour before AKI induction. Biomarkers (serum creatinine, urea, and uric acid concentrations), oxidative variables, and histopathological AKI changes were evaluated in blood and kidney tissues. Results: All D-005 doses protected against IR-induced AKI in rats by significantly decreasing biomarkers and histopathological AKI changes as assessed by reduced serum concentrations of creatinine, urea, and uric acid. In addition, all D-005 doses decreased tubular damage, as shown by fewer detached cells and casts in the tubular lumen. D-005 reversed oxidation disturbance markers by decreasing malondialdehyde and sulfhydryl group concentrations in plasma and in kidney homogenates and by increasing kidney catalase activity. Dexamethasone, the reference substance, protected against IR-induced AKI in rats by reducing biochemical and histological variables of renal damage in a similar manner. Conclusion: Administration of single oral doses of D-005 markedly and significantly protected against renal IR-induced AKI, possibly due to its known antioxidant effects.
The Impact of Perforator Number on Deep Inferior Epigastric Perforator Flap Breast Reconstruction
Ritwik Grover,Jonas A Nelson,John P Fischer,Stephen J Kovach,Joseph M Serletti,Liza C Wu 대한성형외과학회 2014 Archives of Plastic Surgery Vol.41 No.1
Background: Perforator flaps minimize abdominal site morbidity during autologous breast reconstruction. The purpose of this study was to assess whether the number of perforators harvested influences the overall deep inferior epigastric perforator (DIEP) flap survival and flap-related complications. Methods: A retrospective review was performed of all DIEP flaps performed at the Hospital of the University of Pennsylvania from 2006 to 2011. The outcomes assessed included flap loss and major complications. We compared flaps by the number of total perforators (1–4) and then carried out a subgroup analysis comparing flaps with one perforator to flaps with multiple perforators. Lastly, we conducted a post-hoc analysis based on body mass index (BMI) categorization. Results: Three hundred thirty-three patients underwent 395 DIEP flaps. No significant differences were noted in the flap loss rate or the overall complications across perforator groups. However, the subgroup analysis revealed significantly higher rates of fat necrosis in the case of one-perforator flaps than in the case of multiple-perforator flaps (10.2% vs. 3.1%, P=0.009). The post-hoc analysis revealed a significant increase in the flap loss rate with increasing BMI (<30=2.0%, 30–34.9=3.1%, 35–39.9=3.1%, >40=42.9%, P<0.001) in the DIEP flaps, but no increase in fat necrosis. Conclusions: This study demonstrates that the number of perforators does not impact the rate of flap survival. However, the rate of fat necrosis may be significantly higher in DIEP flaps based on a single perforator. Multiple perforators should be utilized if possible to decrease the risk of fat necrosis.
MOA-2013-BLG-220Lb: MASSIVE PLANETARY COMPANION TO GALACTIC-DISK HOST
Yee, J. C.,Han, C.,Gould, A.,Skowron, J.,Bond, I. A.,Udalski, A.,Hundertmark, M.,Monard, L. A. G.,Porritt, I.,Nelson, P.,Bozza, V.,Albrow, M. D.,Choi, J.-Y.,Christie, G. W.,DePoy, D. L.,Gaudi, B. S.,H IOP Publishing 2014 The Astrophysical journal Vol.790 No.1
<P>We report the discovery of MOA-2013-BLG-220Lb, which has a super-Jupiter mass ratio q = 3.01 +/- 0.02 x 10(-3) relative to its host. The proper motion, mu = 12.5 +/- 1 mas yr(-1), is one of the highest for microlensing planets yet discovered, implying that it will be possible to separately resolve the host within similar to 7 yr. Two separate lines of evidence imply that the planet and host are in the Galactic disk. The planet could have been detected and characterized purely with follow-up data, which has important implications for microlensing surveys, both current and into the Large Synoptic Survey Telescope (LSST) era.</P>