School of Laboratory Medicine, School of Life Science, Wenzhou Medical University, Wenzhou, Zhejiang 325035, P. R. China.
Published: December 2014
AI Article Synopsis
Article Abstract
Objective: To employ single nucleotide polymorphisms (SNP) microarray to detect copy number variations (CNVs) for the diagnosis of disease and molecular classification.
Methods: For a patient with split-hand/split-foot malformation, genome-wide copy number variants SNP microarray was applied. Tiny copy number variations were verified by real-time fluorescent quantitative PCR.
Results: The results of SNP microarray has revealed that the patient has carried a 0.39 Mb duplication in 10q24.31-24.32 (102 955 122-103 348 688), which has encompassed genes including LBX1, BTRC and POLL. By real-time fluorescent quantitative PCR, duplicate area encompassing the pathogenic genes have been verified. The results for LBX1, BTRC, POLL genes were all consistent with the SNP microarray test. Moreover, a duplication was detected in exon 9 of FBXW4 gene which is in nearby.
Conclusion: SNP chips can efficiently identify tiny CNVs (< 1.0 Mb). In combination with real-time fluorescence quantitative PCR, this may provide valuable information for prenatal diagnosis.
Background: To evaluate the influence of sodium bicarbonate Ringer's solution (BRS) combined with positive end-expiratory pressure (PEEP) on the internal environment in patients who have undergone laparoscopic bariatric surgery.
Methods: A total of 128 patients undergoing laparoscopic bariatric surgery were randomly divided into the control group (group C), the PEEP group (group P), the BRS group (group B), and the BRS combined with the PEEP group (group BP). The results of arterial blood gas analysis, including pH value, base excess (BE), concentrations of electrolyte, and lactate (Lac) were documented before intravenous infusion (T0) and 5 min after the surgery (T1).
Objective: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by proximal muscle weakness and atrophy. The increasing availability of disease-modifying therapies has prompted the development of biomarkers to facilitate clinical assessments. We explored the association between disease severity and serum creatinine (Crn) levels in SMA patients undergoing up to two years of treatment with nusinersen.
Xinjiang Key Laboratory of Biological Resources and Genetic Engineering, College of Life Science and Technology, Xinjiang University, Urumqi, 830017, China.
Background: Vernicia montana and V. fordii are economically important woody oil species in the Euphorbiaceae that have great industrial oil and ornamental greening properties, however, the wild resources of Vernicia trees have been reduced because of their habitat destruction. Considering the diverse economic and ecological importance of Vernicia species, it is important to collect more molecular data to determine the genetic differences between V.
Department of Medicine, Division of Hematology and Medical Oncology, Columbia University Irving Medical Center, Herbert Irving Comprehensive Cancer Center, New York, New York, USA
Introduction: Neoadjuvant chemoimmunotherapy has achieved overall survival (OS) benefit for patients with resectable non-small cell lung cancer (NSCLC). Here, we present outcomes after 3 years of follow-up from the first reported study of neoadjuvant atezolizumab+chemotherapy.
Methods: This open-label, multicenter single-arm investigator-initiated phase II study conducted at three US hospitals tested up to four cycles of atezolizumab, carboplatin, and nab-paclitaxel prior to surgery.
State Key Laboratory of Vaccines for Infectious Diseases, Xiang An Biomedicine Laboratory & State Key Laboratory of Molecular Vaccinology and Molecular Diagnostics, School of Public Health, Xiamen University, Xiamen 361102, China; Department of Obstetrics, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen 361003, China. Electronic address:
Carbon black nanoparticles (CBNPs) are ubiquitous in our daily ambient environment, either resulting from tobacco combustion or constituting the core of PM. Despite the potential risk of trafficking CBNPs to the fetus, the underlying toxicity of nano-sized carbon black particles in the placenta remains unambiguous. Pregnant C57BL/6 mice received intratracheal instillation of 30 nm or 120 nm CBNPs.
