Nephrometry score matched robotic vs. laparoscopic vs. open partial nephrectomy

To compare perioperative outcomes in the three most common partial nephrectomy modalities: robotic (RPN), laparoscopic (LPN), and open (OPN), matched for nephrometry scores. Patients aged 16–85 who underwent RPN, LPN, or OPN from 2007 to 2014 for localized renal carcinoma within our healthcare system were enrolled. Age, sex, body mass index, and Charlson Comorbidity Index (CCI) as well as perioperative outcomes of estimated blood loss (EBL), length of hospital stay (LOS), ischemia time (IT), change in eGFR, positive margin rate, operative time (OT), and emergency room visit rates were compared between RPN, LPN, and OPN using the R.E.N.A.L nephrometry score. A total of 862 patients underwent partial nephrectomy (523 LPN, 176 OPN, and 163 RPN). Patients who underwent OPN were significantly older, and had higher nephrometry scores and CCI. When matched for nephrometry scores, minimally invasive (LPN and RPN) compared to OPN had lower EBL (<?0.0001), shorter LOS (<?0.0001), shorter IT (<?0.001), and less change in eGFR (<?0.001), particularly in nephrometry scores higher than 8 (0.0099). Comparing RPN with LPN, RPN had significantly shorter OT in all nephrometry scores (<?0.001); shorter IT and LOS in nephrometry scores higher than 7. Our study suggests that minimally invasive partial nephrectomy may have superior outcomes to OPN when matched by nephrometry scores, particularly at higher scores and for RPN. This finding may contribute to a surgeon’s decision in the approach to partial nephrectomy.     

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population

Neuromuscular diseases (NMDs) include a broad range of disorders affecting muscles, nerves and neuromuscular junctions. Their overlapping phenotypes and heterogeneous genetic nature have created challenges in diagnosis which calls for the implementation of massive parallel sequencing as a candidate strategy to increase the diagnostic yield. In this study, total of 45 patients, mostly offspring of consanguineous marriages were examined using whole exome sequencing. Data analysis was performed to identify the most probable pathogenic rare variants in known NMD genes which led to identification of causal variants for 33 out of 45 patients (73.3%) in the following known genes: CAPN3, Col6A1, Col6A3, DMD, DYSF, FHL1, GJB1, ISPD, LAMA2, LMNA, PLEC1, RYR1, SGCA, SGCB, SYNE1, TNNT1 and 22 novel pathogenic variants were detected. Today, the advantage of whole exome sequencing in clinical diagnostic strategies of heterogeneous disorders is clear. In this cohort, a diagnostic yield of 73.3% was achieved which is quite high compared to the overall reported diagnostic yield of 25% to 50%. This could be explained by the consanguineous background of these patients and is another strong advantage of offering clinical exome sequencing in diagnostic laboratories, especially in populations with high rate of consanguinity.     

High-altitude adaptation in humans: from genomics to integrative physiology

About 1.2 to 33% of high-altitude populations suffer from Monge’s disease or chronic mountain sickness (CMS). Number of factors such as age, sex, and population of origin (older, male, Andean) contribute to the percentage reported from a variety of samples. It is estimated that there are around 83 million people who live at altitudes > 2500 m worldwide and are at risk for CMS. In this review, we focus on a human “experiment in nature” in various high-altitude locations in the world—namely, Andean, Tibetan, and Ethiopian populations that have lived under chronic hypoxia conditions for thousands of years. We discuss the adaptive as well as mal-adaptive changes at the genomic and physiological levels. Although different genes seem to be involved in adaptation in the three populations, we can observe convergence at genetic and signaling, as well as physiological levels. What is important is that we and others have shown that lessons learned from the genes mined at high altitude can be helpful in better understanding and treating diseases that occur at sea level. We discuss two such examples: EDNRB and SENP1 and their role in cardiac tolerance and in the polycythemic response, respectively.     

Physicochemical characterization and optimization of glycolipid biosurfactant production by a native strain of Pseudomonas aeruginosa HAK01 and its performance evaluation for the MEOR process

In this study, a glycolipid type of biosurfactant (BS) was produced, its characteristics were evaluated and several flooding tests were conducted in a micromodel to investigate its potential for enhancing oil recovery. A rhamnolipid BS producer strain was identified as a bacterium belonging to the genus Pseudomonas aeruginosa. This BS showed good stability at temperatures of 40–121 °C, pH values of 3–10 and salinity up to 10% (w/v) NaCl which is important in Microbial Enhanced Oil Recovery (MEOR). The rhamnolipid decreased the surface tension of water from 72 to 28.1 mN m⁻¹ with a critical micelle concentration of 120 ppm. Thin layer chromatography, FTIR spectroscopy, ¹H-NMR and ¹³C-NMR spectroscopy revealed the glycolipid structure of the BS. Response surface methodology was applied to optimize BS production. Several micromodel flooding tests were conducted to study the capability of the produced rhamnolipid in enhanced oil recovery for the first time. An oil recovery factor of 43% was obtained at 120 ppm of BS solution whereas the recovery factor obtained for water flooding was 16%. Contact angle measurements showed that BS solutions altered the wettability of a glass surface from oil wet to a strongly water wet state. Also the results illustrated that all BS solutions were impressive in microbial enhanced oil recovery (MEOR) and using the produced BS a considerable amount of trapped oil can be extracted due to interfacial tension reduction, wettability alteration towards water wet conditions and improving the mobility ratio.

In this study, a glycolipid type of biosurfactant (BS) was produced, its characteristics were evaluated and several flooding tests were conducted in a micromodel to investigate its potential for enhancing oil recovery.