Whole-genome resequencing reveals molecular imprints of anthropogenic and natural selection in wild and domesticated sheep.

The abundance of domesticated sheep varieties and phenotypes is largely the result of long-term natural and artificial selection. However, there is limited information regarding the genetic mechanisms underlying phenotypic variation induced by the domestication and improvement of sheep. In this study, to explore genomic diversity and selective regions at the genome level, we sequenced the genomes of 100 sheep across 10 breeds and combined these results with publicly available genomic data from 225 individuals, including improved breeds, Chinese indigenous breeds, African indigenous breeds, and their Asian mouflon ancestor. Based on population structure, the domesticated sheep formed a monophyletic group, while the Chinese indigenous sheep showed a clear geographical distribution trend. Comparative genomic analysis of domestication identified several selective signatures, including IFI44 and IFI44L genes and PANK2 and RNF24 genes, associated with immune response and visual function. Population genomic analysis of improvement demonstrated that candidate genes of selected regions were mainly associated with pigmentation, energy metabolism, and growth development. Furthermore, the IFI44 and IFI44L genes showed a common selection signature in the genomes of 30 domesticated sheep breeds. The IFI44 c. 54413058 C>G mutation was selected for genotyping and population genetic validation. Results showed that the IFI44 polymorphism was significantly associated with partial immune traits. Our findings identified the population genetic basis of domesticated sheep at the whole-genome level, providing theoretical insights into the molecular mechanism underlying breed characteristics and phenotypic changes during sheep domestication and improvement.

Increased plasma levels of miR-124-3p, miR-125b-5p and miR-192-5p are associated with outcomes in acute ischaemic stroke patients receiving thrombolysis.

BACKGROUND AND AIMS: Circulating microRNAs (miRNAs) have recently emerged as promising biomarkers for acute ischaemic stroke (AIS). However, the expression profiles of miRNAs in AIS patients receiving intravenous thrombolysis, and their associations with outcome have not been investigated. METHODS: In a prospective cohort study, a total of 84 AIS patients, who received intravenous thrombolysis (21.4% received combined reperfusion therapy) and completed 3 month follow-up visits, were included. Favourable and unfavourable outcomes were defined as modified Rankin Scale (mRS) scores of 0-1 and 2-6, respectively. Plasma samples were collected at 24 h after thrombolysis. We used RNA sequencing to study miRNA profiles in 5 patients with unfavourable outcomes and 5 matched patients with favourable outcomes. Differentially expressed miRNAs were further validated in all cohorts using quantitative real-time polymerase chain reaction assays. RESULTS: After identification and validation, we found that miR-124-3p, miR-125b-5p and miR-192-5p levels were higher in patients with unfavourable outcomes than in patients with favourable outcomes. Logistic regressions and receiver-operating characteristic curve analyses demonstrated that these altered miRNAs may function as predictive biomarkers for outcome in AIS patients receiving thrombolysis, whether combined with endovascular thrombectomy or not. In addition, miR-124-3p and miR-125b-5p were closely associated with stroke severity. CONCLUSIONS: A set of circulating microRNAs (miR-124-3p, miR-125b-5p and miR-192-5p) are associated with unfavourable 3 month outcomes and might have clinical utility in AIS patients receiving thrombolysis.

[Epidemiology and treatment analysis of children with out-of-hospital cardiac arrest].

OBJECTIVE: To study the weak loop in the treatment of children with out-of-hospital cardiac arrest (OHCA) and the treatment strategy for improvement. METHOD: Data of a total of 133 patients with OHCA who were rescued by Wuxi pre-hospital care center during the 2005 - 2011 were analyzed. RESULT: The main causes of pediatric OHCA were drowning (52/133) and accidental injury disease (30/133). The cases of OHCA were mainly located in public places (60/133) and the majority occurred in winter and summer. The emergency rescue response time was (13.21 ± 8.09) min, the rate of first witness treatment was 3.91%, intubations was performed in 11.11%, opening of vein access was 23.15% and one case got restoration of spontaneous circulation (ROSC). CONCLUSION: The rate of ROSC of pre-hospital cardiac arrest in children was significantly lower than that of hospital cardiac arrest. Preventive interventions on children's accidents and the skills of pre-hospital staff on pediatric advanced life support (PALS) need to be urgently improved.

Association of heartburn and laryngopharyngeal symptoms with endoscopic reflux esophagitis, smoking, and drinking.

OBJECTIVES: This study was conducted to investigate the association of laryngopharyngeal symptoms and heartburn with endoscopic esophagitis, smoking, and drinking. The clinical importance of the Reflux Symptom Index (RSI) in predicting endoscopic esophagitis was also evaluated. STUDY DESIGN: Case series with planned data collection. SUBJECTS AND METHODS: From November 2006 to February 2007, 156 adults received a whole-body physical check-up. They filled out the RSI questionnaire and were dichotomized into either a "no problem group" or a "possible patients group" according to their scores on the RSI. All subjects received an esophagoscopy. The relationship between RSI score and endoscopic esophagitis, smoking, and drinking was analyzed. RESULTS: Voice change, but not heartburn, was significantly associated with endoscopic reflux esophagitis. Based on the RSI scores, some items in addition to voice change were significantly associated with smoking or drinking but not with endoscopic esophagitis. CONCLUSIONS: While screening patients for reflux esophagitis by using the RSI questionnaire, there is little value in using heartburn to predict endoscopic esophagitis in Taiwanese people. On the other hand, a husky voice might be a good clinical indicator of patients at risk of having reflux esophagitis.

Cervical sympathetic chain schwannoma.

Schwannomas are benign, slow-growing tumors that arise from Schwann cells of the nerve sheath. Those originating from the sympathetic cervical chain are rare. Herein, we present three cases of cervical sympathetic chain schwannoma (CSCS) and describe our experience with the clinical presentation, surgical management, and outcomes of patients with this pathology. All three patients were found to have a pulsatile, non-tender mass located at the level of the angle of the mandible without cervical nerve function deficit. On imaging study, the location of the mass between the prevertebral muscle and carotid artery with outward displacement of the carotid sheath is a typical characteristic of CSCS. Operative excision and sacrifice of a portion of the sympathetic chain remains the treatment of choice. Postoperative Horner's syndrome is predictable and vagus nerve dysfunction or first bite syndrome is also possible.

An optimized procedure greatly improves EST vector contamination removal.

BACKGROUND: The enormous amount of sequence data available in the public domain database has been a gold mine for researchers exploring various themes in life sciences, and hence the quality of such data is of serious concern to researchers. Removal of vector contamination is one of the most significant operations to obtain accurate sequence data containing only a cDNA insert from the basecalls output by an automatic DNA sequencer. Popular bioinformatics programs to accomplish vector trimming include LUCY, cross_match and SeqClean. RESULTS: In a recent study, where the program SeqClean was used to remove vector contamination from our test set of EST data compiled through various library construction systems, however, a significant number of errors remained after preliminary trimming. These errors were later almost completely corrected by simply using a re-linearized form of the cloning vector to compare against the target ESTs. The modified trimming procedure for SeqClean was also compared with the trimming efficiency of the other two popular programs, LUCY2, and cross_match. Using SeqClean with a re-linearized form of the cloning vector significantly surpassed the other two programs in all tested conditions, while the performance of the other two programs was not influenced by the modified procedure. Vector contamination in dbEST was also investigated in this study: 2203 out of the 48212 ESTs sampled from dbEST (2007-04-18 freeze) were found to match sequences in UNIVEC. CONCLUSION: Vector contamination remains a serious concern to the data quality in the public sequence database nowadays. Based on the results presented here, we feel that our modified procedure with SeqClean should be recommended to all researchers for the task of vector removal from EST or genomic sequences.

Laryngeal tuberculosis: a review of 26 cases.

OBJECTIVES: To review the clinical characteristics of laryngeal tuberculosis. STUDY DESIGN: Retrospective case series. SUBJECTS AND METHODS: Medical records of 26 histopathology-confirmed cases in a tertiary medical center from 1992 to 2006. RESULTS: The female patients were significantly younger than male patients. Hoarseness is the most common symptom (84.6%) because true vocal fold is most commonly involved (80.8%). Infection usually involves unilateral (66.7%) and right-side larynx but multiple subsites of the larynx (57.7%). The appearance of the affected larynx may have mixed features and change before diagnosis. Laryngeal tuberculosis is usually misdiagnosed as laryngeal cancer, especially in patients with malignant signs such as enlarged cervical lymph nodes and vocal fold immobility. Chest film is better than sputum examinations for screening. CONCLUSION: We should be especially alert about TB infection when facing young female patients with unusual laryngeal lesions. Extensive laser excision before diagnosis should be avoided because after antituberculous treatment, prognosis is usually good and vocal fold immobility could be reversible.