Interventional treatment of giant tracheal lymphoma under rigid bronchoscopy: A case report and literature review.

INTRODUCTION: Lymphoma can appear in all parts of the body and present with different symptoms. However, bronchial lymphoma is rare and can be misdiagnosed as airway malignancy or lung disease.Patient: An older adult woman with tracheal lymphoma experienced severe breathing difficulties, and chest computed tomography indicated severe narrowing of the airway. She did not respond to repeated antibiotic treatment, and she was eventually diagnosed with lymphoma based on pathology after surgical removal of the tumor. DIAGNOSIS: The patient received a diagnosis of thoracic tracheal stenosis due to intratracheal inflammatory granulomatous lesions or a tumor. INTERVENTIONS: Treatment involved the use of a high-frequency electrotome, freezing, and argon plasma coagulation. OUTCOMES: The patient reported improvements in dyspnea, cough, and other symptoms after the operation. The pathological results confirmed follicular lymphoma. Reexamination by fiberbronchoscopy indicated that the degree of stenosis in the middle and upper tracheal segments was significantly reduced following interventional therapy. CONCLUSION: Endoscopic interventional therapy can be an effective treatment for tracheal lymphoma.

Could routine forensic STR genotyping data leak personal phenotypic information?

The application of forensic genetic markers must comply with privacy rights and legal policies on a premise that the markers do not expose phenotypic information. The most widely-used short tandem repeats (STRs) are generally viewed as 'junk' DNA because most STRs are located in non-coding regions and therefore refrain from leaking phenotypic traits. But with a deepening understanding of phenotypes and underlying genetic structure, whether STRs could potentially reflect any phenotypic information may need re-examining. Therefore, we performed the following analyses. First, we analyzed the association between 15 STRs and three facial characteristics (single or double eyelid, with or without epicanthus, unattached or attached earlobe) on 721 unrelated Han Chinese individuals. Then, we collected 27199 individuals' STRs and geographic data from the literature to investigate the association between STRs and bio-geographic information, and predict geographic information by STRs on additional 1993 unrelated individuals. We found that there was scarcely any association between STRs with studied facial characteristics. Although allele19 in D2S1338 and allele 18 in FGA (P = 0.0032, P = 0.0030, respectively after Bonferroni correction) showed statistical significance, the prediction effectiveness was very low. For the STRs and bio-geographic information, the principal component analysis showed the first three components could explain 87.7% of the variance, but the prediction accuracy only reached 25.2%. We demonstrated that the forensic phenotypes are usually complex traits, it is hardly possible to uncover phenotypic information by testing only dozens of STR loci.

Facial soft tissue thickness in Yangtze River delta Han population: Accurate assessment and comparative analysis utilizing Cone-Beam CT.

Facial approximation plays a vital role in personal identification when other methods cannot be applied, and the study on facial soft tissue thickness (FSTT) is important to allow more accurate facial approximation. The Cone-Beam CT (CBCT) is considered to be an accurate approach in assessing FSTT, however only few studies have assessed the FSTT norms by CBCT in Chinese populations. The aim of this study was to (1) establish forensic measurement approach on a 3D model reconstructed by CBCT image; (2) obtain FSTT norms from the adults of Yangtze River delta Han population; (3) determine the impacts of sex, age, BMI as well as malocclusion type on FSTT and (4) form a FSTT database through CBCT. A total of 60 facial landmarks were primarily established from 3D reconstructed models from CBCT images of 424 healthy Han adults (130 males and 294 females) aged from 21 to 50 years in Yangtze River delta region and measurements were carried out. The multivariate analysis of variance test and multiple linear regressions test showed that the FSTT values on most landmarks were significantly different between sexes and BMI, and males showed greater values, expect for the landmarks distributed in malarzygomatic areas. Simultaneously, BMI mostly affected the landmarks located in zygomatic region. Besides, only a few landmarks were influenced by age. Interestingly, several periodontal landmarks were influenced by malocclusion types, thus the impact of malocclusion types on FSTT requires attention. Finally, the validation analysis suggested that measurement approach is an important factor for FSTT.

Identification of Serum-Based Metabolic Feature and Characteristic Metabolites in Paraquat Intoxicated Mouse Models.

Paraquat (PQ) is a widely used herbicide which can cause high mortality to humans. However, relatively few studies focus on metabolic feature of PQ intoxication for investigating the underlying mechanisms. Here we performed non-targeted metabolomics profiling of serum samples from acute and chronic PQ intoxicated mouse models by gas chromatography time-of-flight mass spectrometry (GC-TOF/MS) to identify metabolic feature and characteristic metabolites of acute and chronic PQ intoxication. Results showed that 3-indolepropionic acid (IPA) and pathway of glycine, serine, and threonine metabolism were significantly altered after acute PQ intoxication; 2-hydroxybutyric acid and the ratio of L-serine/glycine were of significance between acute and chronic PQ intoxication. Then targeted metabolomics profiling was conducted by liquid chromatography-mass spectrometry (LC-MS) analysis to confirm the changes of IPA after acute PQ intoxication. Moreover, IPA-producing gut bacteria in feces were quantified by qRT-PCR to explain the varied IPA serum concentration. Clostridium botulinum and Peptostreptococcus anaerobius were significantly suppressed after acute PQ intoxication. The data suggested that PQ caused oxidative damage partially through suppression of anti-oxidative metabolite producing gut bacteria. In conclusion, we identified characteristic metabolites and pathway of acute and chronic PQ intoxication which could be potential biomarkers and therapeutic targets.

The advances in DNA mixture interpretation.

In forensic genetics, the analysis of DNA in biological samples is a valuable tool for personal identification. There is an increasing demand in analyzing of the mixed DNA which may provide insightful investigative instructions. With the continuous effort for the improvement of individual identification, complicated mixed stains represent a growing fraction of the samples processed by forensic laboratories. Recent technological advances have enabled quantitative analysis of DNA mixture and emerging sequencing approaches to decipher the complicated DNA mixture. Here, we describe the use of different genetic markers, typing approaches and analytical methods in mixture analysis, and how useful information can be obtained from complicated DNA mixture.

A microhaplotypes panel for massively parallel sequencing analysis of DNA mixtures.

Massively parallel sequencing (MPS) technology enables the simultaneous analysis of different kinds of forensic genetic markers as well as the detection of the alleles with minor contributions in a highly unbalanced DNA mixture. In our previous study, we presented a novel set of microhaplotype loci and evaluated their application value in analyzing the DNA mixtures. However, several issues remain unclear, for example (i) whether the major or the minor donor in an unbalanced DNA mixture can be compared with a known suspect, (ii) whether the proportion of each contributor in a DNA mixture can be inferred, (iii) whether the captured alleles can be assigned to the major or the minor donor. To further address these issues, during the present study, we increased the number of loci in a single multiplex system to 25 (all the microhaplotypes have a length less than 50 bp). The DNA samples of 60 unrelated Han Chinese individuals, 40 artificially made DNA mixtures with different mixing proportions were analyzed with MPS by using the microhaplotypes panel. By comparing the population genetic data of the 25 microhaplotypes in 26 populations from 1000 Genome Project (1000 G), the microhaplotypes were found to have similar high Ae values in different populations. The likelihood ratios were further employed to compare the mixtures and known suspects. The major contributor could be well identified in both balanced and unbalanced samples. The minor contributor could also be identified if capturing enough loci. When we divided the microhaplotypes into different subgroups, significant correlation was found between the allele depth ratio and the gradual mixing ratios. The allele depth patterns in balanced, mildly imbalanced and severely imbalanced mixtures were clarified, and we found that certain loci could be discriminated from the contributors and they could be used for direct individual identification.

The genetic diversity and applicability assessment of autosomal STRs among Chinese populations by a novel Fixation Index and Nei's index.

The population-specific FST in STR loci of Chinese populations has not been focused on. Here, we genotyped 19 STRs in 530 unrelated healthy individuals of Xuzhou Han population, and collected data of 30,308 samples from 32 Hans and 50 minorities nationwide. The population-specific ßi and locus-specific ßil were calculated to evaluate the applicable value of STRs. Next, we generated the genetic structure of various ethnic populations by Neighbor-Joining tree and Multidimensional Scaling plot based on pairwise Nei's distances. We found that TH01 and TPOX possessed high ability in discriminating populations which may be reled to the mutation rate of these STRs. Additionally, our data indicated that Chinese Han was homogenous and the population-specific ßis of northern Hans were generally smaller than southern Hans (p > 0.05). We concluded that population-specific FST for autosomal STR loci could be used to reveal the unique genetic characteristics and thus uncover the genetic relationship among Chinese populations.