A modified surgical technique of shortening renal ischemia time in left renal cancer patients with Mayo level II-IV tumor thrombus.

BACKGROUND: To explore the safety and effectiveness of a modified surgical technique which could shorten the time of renal ischemia in left renal cancer and Mayo level II to IV inferior vena cava (IVC) tumor thrombus. METHOD: We retrospectively analyzed the clinical data of 14 cases with left renal cell carcinoma (RCC) and Mayo level II to IV IVC tumor thrombus from February 2015 to July 2019. Preoperative imaging showed that there was no obvious sign of tumor thrombus invading the blood vessel wall. During the surgery, after the right renal artery, the right renal vein and the distal end of IVC were blocked, the balloon catheter was used and the tumor thrombus was removed completely from the IVC. The incision of IVC was closed by Satinsky clamp to make IVC partially blocked. Then the right renal artery and right renal vein were released. The incision of IVC was sutured continuously. At last, the Satinsky clamp and the blocking band at the distal end of the IVC were released. RESULT: There were 8 cases (57.1%) of Mayo level II, 3 cases (21.4%) of Mayo level III and 3 cases (21.4%) of Mayo level IV. The operation was successfully completed in all 14 patients. There were 2 cases (14.3%) operated by complete laparoscopic approach, 8 cases (57.1%) by open approach, and 4 patients (28.6%) by laparoscopic conversion to open approach. The occlusion time of right renal artery and vein (renal ischemia time) was 3 to 15 min, with an average of (6.8 ± 3.2) minutes. The mean time of IVC occlusion was (19.4 ± 4.9) min. Preoperative creatinine was 66 to 130 µmol/L, with an average of (96.6 ± 21.2) µmol/L. One week after operation, serum creatinine was 64 to 632 µmol/L, with an average of (132.4 ± 144.9) µmol/L. Among the 14 cases, 5 (42.9%) had early postoperative complications. Besides one of the 14 patients died in perioperative period, the median follow-up of other 13 cases was 10 months (range: 4-29 months). The 5 (35.7%) of the 14 cases were died of disease. CONCLUSION: This modified procedure was relatively safe and effective in shortening the time of renal ischemia in left RCC patients with Mayo II to IV IVC tumor thrombus.

Genome-wide transcriptomic analysis of a flocculent strain of Zymomonas mobilis.

ZM401, a flocculent mutant strain of Zymomonas mobilis ZM4 was studied using genome-wide transcriptomic analysis for evidence related to phenotypic changes associated with its cell-cell attachment behaviour. Batch fermentation studies with ZM401 and its parent strain ZM4 demonstrated that similar ethanol yields and productivities could be achieved with both strains indicating the potential of the flocculent strains for cost-effective cell biomass recycling with resultant high ethanol volumetric productivities. The results showed that twofold or greater differential expression occurred for 26 genes of ZM401 when compared to those of ZM4. Among these, significant over-expression was evident for the genes ZMO1083 and ZMO1084 which are associated with bacterial cellulose synthesis, while reduced expression was found for ZMO0614, ZMO0613, and ZMO0635 which are all associated with synthesis of flagella-related proteins. Both enhanced cellulose production and reduced flagella activity are likely to facilitate more stable flocculent behaviour in ZM401. From comparative DNA sequence analysis of these 26 genes, only one single point mutation was identified. This occurred at the amino acid position A525V of ZMO1055 which encodes for diguanyl cyclase/phosphoesterase which may be related to cell motility and cellulose synthesis in Z. mobilis.

Case Report: Variations in the ALPL Gene in Chinese Patients With Hypophosphatasia.

Background: Hypophosphatasia (HPP) is an autosomal genetic disorder characterized biochemically by abnormal of bone parameters and serum alkaline phosphatase (ALP) activity as well as clinically by deficiency of teeth and bone mineralization. The clinical presentation is a continuum ranging from a prenatal lethal form with no skeletal mineralization to a mild form with late adult onset presenting with non-pathognomonic symptoms. ALP deficiency is the key to the pathogenesis of abnormal metabolism and skeletal system damage in HPP patients. Methods: We investigated five patients with skeletal dysplasia in the clinic. Whole-exome sequencing was performed in order to aid diagnosis of the patients. Results: Eight variants in the ALPL gene in the five unrelated Chinese patients (PA-1: c.649_650insC and c.707A > G; PA2: c.98C > T and c.707A > G; PA3: c.407G > A and c.650delTinsCTAA; PA4: c.1247G > T (homozygous); PA5: c.406C > T and c.1178A > G; NM_000478.5) were found. These variations caused two types of HPP: perinatal HPP and Odonto HPP. All cases reported in this study were autosomal recessive. Among the variants, c.1247G > T/p.Gly416Val (PA-4); c.1178A > G/p.Asn393Ser (PA-5) and c.707A > G/p.Tyr236Cys (PA-1, PA-2) have never been reported before. Conclusion: Clinical phenotypes of perinatal HPP (PA-1,PA-2,PA-3 and PA-4) include skeletal dysplasia, shorter long bones, bowing of long bones, tetraphocomelia, abnormal posturing and abnormal bone ossification. Odonto HPP (PA-5) only presents as dental abnormality with severe dental caries and decreased ALP activity. Our study extends the pool of ALPL variants in different populations.

Clinical application of whole-exome sequencing: A retrospective, single-center study.

The aim of the present study was to assess the practical diagnostic value of whole-exome sequencing (WES) in patients with different phenotypes and to explore possible strategies to increase the capability of WES in identifying disease-causing genes. A total of 1,360 patients (aged from 1 day to 42 years old) with manifestations of genetic diseases were genotyped using WES and statistical analysis was performed on the results obtained. Within this cohort, the overall positive rate of identification of a disease-causing gene alteration was 44.41%. The positive identification rate where trio-samples were used (from the proband and both parents) was higher than that where a single proband sample was used (50.00 vs. 43.71%), and 604 positive cases with 150 genetic syndromes, 510 genes and 718 mutations were detected. Missense mutations were the most common variations (n=335, 45.27%) and visual or auditory abnormalities (58.51%) had the highest rate of association with a genetic abnormality. The positive detection rate of WES was elevated with the increase in the number of clinical symptoms from 1 to 8. The present study indicated that WES may be used as a valuable tool in the clinic and the positive rate depends more on the professional experience of clinicians rather than on the analytical capabilities of the data analyst. At the same time, particular attention must be paid to certain possible factors (such as the age of the patients as well as possible exon deletions), which may affect the diagnostic rate while applying this process.

Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature.

BACKGROUND: Autosomal recessive cutis laxa type IC (ARCL IC, MIM: #613177) results from a mutation in the LTBP4 gene (MIM: #604710) on chromosome 19q13. CASE PRESENTATION: A 28-day-old Chinese infant with generalized cutis laxa accompanied by impaired pulmonary, gastrointestinal, genitourinary, retinal hemorrhage, abnormality of coagulation and hyperbilirubinemia was admitted to our hospital. To find out the possible causes of these symptoms, whole-exome sequencing was performed on the infant. Two novel pathogenic frame-shift variants [c.605_606delGT (p.Ser204fs * 8) and c.1719delC (p.Arg574fs * 199)] of the LTBP4 gene associated with ARCL IC were found which was later verified by Sanger sequencing. The pathogenicity of mutations was subsequently assessed by several software programs and databases. In addition, an analytical review on the clinical phenotypes of the disease previously reported in literature was performed. CONCLUSIONS: This is the first report of a Chinese infant with ARCL IC in China due to novel pathogenic variations of LTBP4. Our study extends the cutis laxa type IC mutation spectrum as well as the phenotypes associated with the disease in different populations.