Successful Management of Velopharyngeal Insufficiency in WAGR syndrome with Deletion of Chromosome 11p14.3.

Deletions in the 11p region can lead to severe outcomes, such as WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome. However, velopharyngeal insufficiency is little known, and its treatment guideline is yet to be established. Here, we present a velopharyngeal insufficiency case of a Korean patient with a 493kb deletion of chromosome 11p14.3. The patient was successfully managed with a posterior pharyngeal flap. Posterior pharyngeal flap should be considered in velopharyngeal insufficiency patients with WAGR syndrome.

Transmission and molecular characteristics of blaNDM-producing Escherichia coli between companion animals and their healthcare providers in Guangzhou, China.

OBJECTIVES: To determine the transmission and molecular characteristics of blaNDM-producing Escherichia coli between companion animals and their healthcare providers at veterinary clinics in Guangzhou, China. METHODS: A total of 359 samples from companion animals and their healthcare providers were collected at 14 veterinary clinics in Guangzhou, China. Genomic characteristics and clonal relationships for blaNDM-positive E. coli and complete plasmid sequences were characterized based on WGS data from combined Illumina and MinION platform reads. RESULTS: Forty-five blaNDM-positive bacteria were recovered from companion animals (n = 43) and their healthcare providers (n = 2) at 10 veterinary clinics. Overall, E. coli (73.3%, 33/45) and Klebsiella pneumoniae (13.3%, 6/45) were the most prevalent species among the seven species of blaNDM-positive bacteria. Four blaNDM variants (blaNDM-1, blaNDM-4, blaNDM-5 and blaNDM-7) were identified in 45 blaNDM-positive bacteria and blaNDM-5 was the most prevalent (77.8%, 35/45). WGS indicated that the most prevalent STs were ST405 (8/33), ST453 (6/33), ST457 (6/33) and ST410 (5/33) among the 33 blaNDM-positive E. coli isolates. Phylogenomics and PFGE analysis revealed that clonal spread of blaNDM-positive ST453 E. coli isolates between companion animals and their healthcare providers was evident. In addition, two novel IncFIB plasmids carrying blaNDM-4 (pF765_FIB and pG908_FIB) were found in this study and indicated that IS26 may promote the horizontal transmission of blaNDM between different plasmid types. CONCLUSIONS: In this study we conducted a large-scale investigation on the prevalence of blaNDM-positive E. coli isolates from companion animals and their healthcare providers and revealed the clonal spread of blaNDM-positive E. coli isolates between these two groups.

Precision Pharyngeal Flap: An Individualized, Patient-Specific Surgery for the Treatment of Velopharyngeal Insufficiency.

BACKGROUND: The pharyngeal flap is one of the most common secondary surgeries for the correction of velopharyngeal insufficiency (VPI) for patients with cleft palate and/or cleft lip and palate. This study aimed to demonstrate the effectiveness of the precision pharyngeal flap surgery performed by the senior author. MATERIALS AND METHODS: Children with VPI, who underwent precision pharyngeal flap, were retrospectively examined. All surgical procedures were performed by the senior author. The flap size was individually configured based on the patients' preoperative nasopharyngoscopic analysis and speech function evaluation. Pre- and post-operative velopharyngeal functions were assessed using perceptual speech evaluation and nasometric analysis; factors affecting surgical outcomes were determined. RESULTS: Of 138 patients, 112 (women: 53, men: 59) were included in analyses, according to the inclusion and exclusion criteria. The median follow-up period was 21 months (range: 9-120). Postoperative perceptual speech evaluation revealed improved velopharyngeal function in 108 (96.4%). There were no reports of postoperative hyponasality (preoperative, 1.8% versus postoperative, 0%; P = 0.053). Other parameters of perceptual speech evaluation (hypernasality, nasal emission, articulation error, and intelligibility) showed significant improvement postoperatively (P < 0.01). Postoperative nasalance scores revealed sufficient postoperative resonance rating in 96% of patients. No patients experienced postoperative complications (bleeding, airway obstruction, and surgical wound dehiscence). CONCLUSIONS: Individually configured pharyngeal flaps designed based on preoperative nasopharyngoscopic examination coupled with precise surgical techniques led to the high surgery success rate for VPI treatment.

Polycaprolactone Mesh for Asian Rhinoplasty: Outcomes and Complications of Composite Septal Extension Graft Compared to Mesh-Only Graft.

Despite the great demand of aesthetic rhinoplasty in Asian population, it is difficult to obtain the lasting ideal tip projection along with lengthening of the nose due to the small and weak nasal septum. The shortage of available septal cartilage to work with is another major obstacle. A retrospective study was conducted between January 2017 and December 2019 in Seoul, Korea. A total of 774 patients underwent septorhinoplasty using polycaprolactone (PCL) mesh for the cosmetic enhancement of the nasal tip and the projection. Comparisons of aesthetic outcomes, patients' satisfaction surveys, and complications were performed between PCL mesh-only group and composite PCL group. Of all the patients, 97.5% of the patients in composite PCL group were rated more than 3 scores in aesthetic outcomes, whereas 90.4% in mesh-only group (p-value = 0.0002). About 96.7% of the patients with composite PCL rated their satisfaction level as more than satisfied, whereas 94.3% in mesh-only group (p-value = 0.0365). Overall, there were 17 patients in composite PCL group who exhibited complications including decreased tip projection, deviated nasal tip, mesh infection, and mesh exposure. However, there were two patients who had mesh injection in mesh-only group. Septorhinoplasty with septal extension graft using composite PCL graft provides robust support to the aesthetically modified projection and the lengthened nose without obvious complications on the nasal tip. Such technique allows surgeons to overcome the nature of Asian nose that is weak and small, and also provides satisfaction to patients who desire ideal tip projections and dramatic changes.

Molecular epidemiology of carbapenemase-producing Escherichia coli from duck farms in south-east coastal China.

OBJECTIVES: To determine the dissemination and molecular characteristics of NDM-producing Escherichia coli strains from duck farms in south-east coastal China and their threats to human health. METHODS: A total of 232 NDM-producing E. coli were recovered from 1505 samples collected from 25 duck farms and their surrounding environments in five provinces in China. Resistance genes were confirmed using PCR. Genomic characteristics of the carbapenemase-producing isolates were determined by WGS and bioinformatic analysis. RESULTS: The rate of NDM-positive E. coli detected in samples from the five provinces ranged from 3.7% to 28.5%. There was substantial variation in the prevalence of NDM-positive E. coli from different duck farms in each province studied. Three variants (blaNDM-1, blaNDM-4 and blaNDM-5) were found in 232 NDM-positive E. coli; blaNDM-5 (94.8%, 220/232) was the most prevalent. WGS analysis indicated that ST746, ST48, ST1011 and ST167 E. coli isolates were prevalent in the current study and poultry was likely the primary reservoir for NDM-positive ST746 and ST48 E. coli in China. Phylogenomic analysis showed that NDM-positive E. coli isolates from ducks were closely related to those of human origin. In addition, WGS analysis further revealed that blaNDM co-existed with other antibiotic resistance genes, conferring resistance to nine classes of antimicrobials. CONCLUSIONS: This study revealed that ducks farm in China are an important reservoir for NDM-positive E. coli and STs of the isolates showed obvious distinctive diversities in geographical distribution. The distribution and spread of NDM-positive E. coli in duck farms poses a threat to public health.

Occurrence and Transmission of blaNDM-Carrying Enterobacteriaceae from Geese and the Surrounding Environment on a Commercial Goose Farm.

We investigated the prevalence and transmission of NDM-producing Enterobacteriaceae in fecal samples of geese and environmental samples from a goose farm in southern China. The samples were cultivated on MacConkey agar plates supplemented with meropenem. Individual colonies were examined for blaNDM, and blaNDM-positive bacteria were characterized based on whole-genome sequencing (WGS) data from the Illumina and Oxford Nanopore Technologies (ONT) platforms. Of 117 samples analyzed, the carriage rates for New Delhi metallo-ß-lactamase (NDM)-positive Enterobacteriaceae were 47.1, 18, and 50% in geese, inanimate environments (sewage, soil, fodder, and dust), and mouse samples, respectively. Two variants (blaNDM-1 and blaNDM-5, in 4 and 40 isolates, respectively) were found among 44 blaNDM-positive Enterobacteriaceae; these variants belonged to eight species, and Escherichia coli was the most prevalent (50%). WGS analysis revealed that blaNDM coexisted with diverse antibiotic resistance genes (ARGs). Population structure analysis showed that most E. coli and Enterobacter sp. isolates were highly heterogeneous, while most Citrobacter sp. and P. stuartii isolates possessed extremely high genetic similarities. In addition, blaNDM-5-positive ST4358/ST48 E. coli isolates were found to be clonally spread between geese and the environment and were highly genetically similar to those reported from ducks, farm environments, and humans in China. Plasmid analysis indicated that IncX3 pHNYX644-1-like (n = 40) and untypeable pM2-1-like plasmids (n = 4) mediated blaNDM spread. pM2-1-like plasmids possessed diverse ARGs, including blaNDM-1, the arsenical and mercury resistance operons, and the maltose operon. Our findings revealed that the goose farm is a reservoir for NDM-positive Enterobacteriaceae The blaNDM contamination of wild mice and the novel pM2-1-like plasmid described here likely adds to the risk for dissemination of blaNDM and associated resistance genes.IMPORTANCE Carbapenem-resistant bacteria, in particular NDM-producing Enterobacteriaceae, have become a great threat to global public. These bacteria have been found not only in hospital and community environments but also among food animal production chains, which are recognized as reservoirs for NDM-producing Enterobacteriaceae However, the dissemination of NDM-producing bacteria in waterfowl farms has been less well explored. Our study demonstrates that the horizontal spread of blaNDM-carrying plasmids and the partial clonal spread of blaNDM-positive Enterobacteriaceae contribute to the widespread contamination of blaNDM in the goose farm ecosystem, including mice. Furthermore, we found a novel and transferable blaNDM-1-carrying multidrug resistance (MDR) plasmid that possessed multiple environmental adaptation-related genes. The outcomes of this study contribute to a better understanding of the prevalence and transmission of blaNDM-carrying Enterobacteriaceae among diverse niches in the farm ecosystem.

Characteristics and surgical outcomes of cleft palate in kabuki syndrome: a case series of 11 patients.

OBJECTIVE: A significant number of patients with KS have cleft palate (CP) or submucous cleft palate (SMCP) and show delayed speech development. However, few reports have discussed the characteristics of CP in KS and the outcomes of postoperative speech development. The purpose of this study was to investigate the characteristics and surgical outcomes of CP in patients with KS, and to discuss the importance of the diagnosis of CP or SMCP. METHODS: We conducted a retrospective study on patients with clinically diagnosed KS who underwent palatoplasty. Clinical and surgical data were collected from patients' medical records, and velopharyngeal function was evaluated using nasopharyngoscopy and speech analysis. RESULTS: In 11 cases, 5 patients had CP (45.5%) and 6 had SMCP (54.5%). Four patients who were genetically tested had a pathogenic variant of KMT2D. Seven of nine patients (77.8%) who underwent conventional palatoplasty showed velopharyngeal insufficiency and hypernasality. All patients who underwent pharyngeal flap surgery achieved velopharyngeal competency. Statistical analysis revealed a statistically significant difference in postoperative results between non-syndromic and KS patients. CONCLUSION: Patients with SMCP may be more common than previously reported. The results showed that it is difficult to produce optimal results with conventional palatoplasty; therefore, pharyngeal flap surgery should be considered as a treatment to obtain favorable results. Pharyngeal flap surgery in patients with KS should be carefully designed based on speech evaluation and nasopharyngoscopic findings.

Clinical value and potential mechanisms of COL8A1 upregulation in breast cancer: a comprehensive analysis.

BACKGROUND: The situation faced by breast cancer patients, especially those with triple-negative breast cancer, is still grave. More effective therapeutic targets are needed to optimize the clinical management of breast cancer. Although collagen type VIII alpha 1 chain (COL8A1) has been shown to be downregulated in BRIP1-knockdown breast cancer cells, its clinical role in breast cancer remains unknown. METHODS: Gene microarrays and mRNA sequencing data were downloaded and integrated into larger matrices based on various platforms. Therefore, this is a multi-centered study, which contains 5048 breast cancer patients and 1161 controls. COL8A1 mRNA expression in breast cancer was compared between molecular subtypes. In-house immunohistochemistry staining was used to evaluate the protein expression of COL8A1 in breast cancer. A diagnostic test was performed to assess its clinical value. Furthermore, based on differentially expressed genes (DEGs) and co-expressed genes (CEGs) positively related to COL8A1, functional enrichment analyses were performed to explore the biological function and potential molecular mechanisms of COL8A1 underlying breast cancer. RESULTS: COL8A1 expression was higher in breast cancer patients than in control samples (standardized mean difference = 0.79; 95% confidence interval [CI] 0.55-1.03). Elevated expression was detected in various molecular subtypes of breast cancer. An area under a summary receiver operating characteristic curve of 0.80 (95% CI 0.76-0.83) with sensitivity of 0.77 (95% CI 0.69-0.83) and specificity of 0.70 (95% CI 0.61-0.78) showed moderate capacity of COL8A1 in distinguishing breast cancer patients from control samples. Worse overall survival was found in the higher than in the lower COL8A1 expression groups. Intersected DEGs and CEGs positively related to COL8A1 were significantly clustered in the proteoglycans in cancer and ECM-receptor interaction pathways. CONCLUSIONS: Elevated COL8A1 may promote the migration of breast cancer by mediating the ECM-receptor interaction and synergistically interplaying with DEGs and its positively related CEGs independently of molecular subtypes. Several genes clustered in the proteoglycans in cancer pathway are potential targets for developing effective agents for triple-negative breast cancer.

Performance improvement of N-doped carbon ORR catalyst via large through-hole structure.

N-doped carbon-based materials are crucial electrically conductive additives and non-metal electrocatalysts for the oxygen reduction reaction. At present, many pieces of research are focused on the effects of micropore, mesopore and hierarchical pore structure on the catalytic activity, however, there are few works concerning the role of large-dimension through-hole structure. Hence, in this work, we prepare two kinds of carbon materials with large through-hole structure, i.e. N-doped carbon hollow-spheres and hollow-tubes, as the oxygen reduction catalysts. The synthesis follows template-free morphology-controlled pyrolysis, which is more convenient than the preparation of conventional N-doped nanotubes and graphene. The resultant N-doped carbon hollow-spheres and hollow-tubes evidently enhanced their ORR catalytic activity, remarkable long-term stability and methanol resistance. The large-dimension through-hole structure is found to account for the increase in mass transfer.

Implementation of the Pulley Effect of Polyrotaxane in Transparent Bulk Polymer for Simultaneous Strengthening and Toughening.

The fascinating pulley effect from moveable α-cyclodextrin (α-CD) based polyrotaxane favors toughening of hydrogels, but the strategy is rarely applied in bulk polymers because of the severe aggregation trend of α-CDs. Herein, the authors propose a simple approach to moderately modify the α-CDs of polyrotaxane by introducing large steric side groups and reactive CC so as to minimize the unwanted hydrogen bonds-induced aggregation of α-CDs and hydrophilicity of polyrotaxane. Accordingly, the proof-of-concept material, poly(methyl acrylate) crosslinked by the modified polyrotaxane, turns out to be rather homogeneous with optical transparency. The polyrotaxane crosslinks are movable under external force as disclosed by in situ small-angle X-ray scattering and other techniques, which is correlated to the relative amount of α-CDs. A few polyrotaxane crosslinkers prove to be sufficient to simultaneously improve strength and toughness of poly(methyl acrylate) owing to the stress equalization. The present work provides an expandable toolbox for enhancing polymers.

Identification of an Immune Score-Based Gene Panel with Prognostic Power for Oral Squamous Cell Carcinoma.

BACKGROUND Oral squamous cell carcinoma (OSCC) is the sixth most prevalent cancer worldwide, with low 5-year survival rate. To identify novel prognostic markers for OSCC and determine the immune and stromal landscape of OSCC, a risk signature for OSCC patients was constructed in this study. MATERIAL AND METHODS Immune and stromal scores for OSCC samples from the Genomic Data Commons Data Portal were computed to delineate the tumor microenvironment landscape of oral cancer based on the Estimation of STromal and Immune cells in MAlignant Tumours using Expression data algorithm. An immune score-based risk signature was constructed by combining random forest and support vector machine methods. Correlation analysis of risk signature gene expression and immune cell infiltration was conducted, and the distinguishing power of individual signature genes was evaluated by analyzing receiver operating characteristics (ROC) curves. Differentially enriched pathways between high and low risk groups were investigated via gene set variation analysis. ROC curves were plotted for signature genes to examine their ability to distinguish the recurrence and survival status of OSCC patients from GSE84846. RESULTS An immune score-related risk signature composed of ARMH1, F2RL2, AC004687.1, COL6A5, AC008750.1, RAB19, CRLF2, GRIP2, and FAM162B performed well in the prognostic stratification of OSCC patients and could effectively distinguish their survival status. Lists of pathways, including cytokine-cytokine receptor interaction and cell adhesion molecules displayed remarkable differential enrichment between high and low risk OSCC patients. CONCLUSIONS An immune score-based risk signature constructed presently may be useful to decide appropriate treatment options for individual OSCC patients.

Clinical Genomic Sequencing Reports in Electronic Health Record Systems Based on International Standards: Implementation Study.

BACKGROUND: To implement standardized machine-processable clinical sequencing reports in an electronic health record (EHR) system, the International Organization for Standardization Technical Specification (ISO/TS) 20428 international standard was proposed for a structured template. However, there are no standard implementation guidelines for data items from the proposed standard at the clinical site and no guidelines or references for implementing gene sequencing data results for clinical use. This is a significant challenge for implementation and application of these standards at individual sites. OBJECTIVE: This study examines the field utilization of genetic test reports by designing the Health Level 7 (HL7) Fast Healthcare Interoperability Resources (FHIR) for genomic data elements based on the ISO/TS 20428 standard published as the standard for genomic test reports. The goal of this pilot is to facilitate the reporting and viewing of genomic data for clinical applications. FHIR Genomics resources predominantly focus on transmitting or representing sequencing data, which is of less clinical value. METHODS: In this study, we describe the practical implementation of ISO/TS 20428 using HL7 FHIR Genomics implementation guidance to efficiently deliver the required genomic sequencing results to clinicians through an EHR system. RESULTS: We successfully administered a structured genomic sequencing report in a tertiary hospital in Korea based on international standards. In total, 90 FHIR resources were used. Among 41 resources for the required fields, 26 were reused and 15 were extended. For the optional fields, 28 were reused and 21 were extended. CONCLUSIONS: To share and apply genomic sequencing data in both clinical practice and translational research, it is essential to identify the applicability of the standard-based information system in a practical setting. This prototyping work shows that reporting data from clinical genomics sequencing can be effectively implemented into an EHR system using the existing ISO/TS 20428 standard and FHIR resources.

Transformation of Pathology Reports Into the Common Data Model With Oncology Module: Use Case for Colon Cancer.

BACKGROUND: Common data models (CDMs) help standardize electronic health record data and facilitate outcome analysis for observational and longitudinal research. An analysis of pathology reports is required to establish fundamental information infrastructure for data-driven colon cancer research. The Observational Medical Outcomes Partnership (OMOP) CDM is used in distributed research networks for clinical data; however, it requires conversion of free text-based pathology reports into the CDM's format. There are few use cases of representing cancer data in CDM. OBJECTIVE: In this study, we aimed to construct a CDM database of colon cancer-related pathology with natural language processing (NLP) for a research platform that can utilize both clinical and omics data. The essential text entities from the pathology reports are extracted, standardized, and converted to the OMOP CDM format in order to utilize the pathology data in cancer research. METHODS: We extracted clinical text entities, mapped them to the standard concepts in the Observational Health Data Sciences and Informatics vocabularies, and built databases and defined relations for the CDM tables. Major clinical entities were extracted through NLP on pathology reports of surgical specimens, immunohistochemical studies, and molecular studies of colon cancer patients at a tertiary general hospital in South Korea. Items were extracted from each report using regular expressions in Python. Unstructured data, such as text that does not have a pattern, were handled with expert advice by adding regular expression rules. Our own dictionary was used for normalization and standardization to deal with biomarker and gene names and other ungrammatical expressions. The extracted clinical and genetic information was mapped to the Logical Observation Identifiers Names and Codes databases and the Systematized Nomenclature of Medicine (SNOMED) standard terminologies recommended by the OMOP CDM. The database-table relationships were newly defined through SNOMED standard terminology concepts. The standardized data were inserted into the CDM tables. For evaluation, 100 reports were randomly selected and independently annotated by a medical informatics expert and a nurse. RESULTS: We examined and standardized 1848 immunohistochemical study reports, 3890 molecular study reports, and 12,352 pathology reports of surgical specimens (from 2017 to 2018). The constructed and updated database contained the following extracted colorectal entities: (1) NOTE_NLP, (2) MEASUREMENT, (3) CONDITION_OCCURRENCE, (4) SPECIMEN, and (5) FACT_RELATIONSHIP of specimen with condition and measurement. CONCLUSIONS: This study aimed to prepare CDM data for a research platform to take advantage of all omics clinical and patient data at Seoul National University Bundang Hospital for colon cancer pathology. A more sophisticated preparation of the pathology data is needed for further research on cancer genomics, and various types of text narratives are the next target for additional research on the use of data in the CDM.

Alar Base Augmentation Using Vomerine Bone Graft in Patients With Cleft Lip Nasal Deformity.

BACKGROUND: Although many trials have been made to augment the unilateral alar base depression, the ultimate aesthetic satisfaction has proven difficult to achieve. In our study, we present a novel submucosal dissection technique to harvest the vomer bone and use it as an onlay graft to correct the alar base depression. METHODS: We collected a prospective cohort study of 11 patients with unilateral cleft lip nasal deformity. Using CorelDRAW X7 software, we obtained perioperative clinical photographs to analyze the nostril and lateral lip morphometric measurements on the cleft side. Computed tomography scans were used to assess the required graft's volume and to detect resorption. We performed vomerine ostectomy and placed and fixed the bone graft in with a lag screw over the alar base depression. RESULTS: The nostril width showed a significant increase, in addition to the height/width ratio. The columellar angle with the lateral lip height increased remarkably, with a general improvement in the nasal tip aesthetics. CONCLUSIONS: The vomer bone graft has been shown to correct the lateral and inferior disorientation of the alar base and improve the nostril and nasal tip aesthetic measurements. The vomer bone is therefore a sufficient bone source for grafting with high viability and no resorption.

Genome-wide study on genetic diversity and phylogeny of five species in the genus Cervus.

BACKGROUND: Previous investigations of phylogeny in Cervus recovered many clades without whole genomic support. METHODS: In this study, the genetic diversity and phylogeny of 5 species (21 subspecies/populations from C. unicolor, C. albirostris, C. nippon, C. elaphus and C. eldii) in the genus Cervus were analyzed using reduced-representation genome sequencing. RESULTS: A total of 197,543 SNPs were identified with an average sequencing depth of 16 x. A total of 21 SNP matrices for each subspecies/population and 1 matrix for individual analysis were constructed, respectively. Nucleotide diversity and heterozygosity analysis showed that all 21 subspecies/populations had different degrees of genetic diversity. C. eldii, C. unicolor and C. albirostris showed relatively high expected and observed heterozygosity, while observed heterozygosity in C. nippon was the lowest, indicating there was a certain degree of inbreeding rate in these subspecies/populations. Phylogenetic ML tree of all Cervus based on the 21 SNP matrices showed 5 robustly supported clades that clearly separate C. eldii, C. unicolor, C. albirostris, C. elaphus and C. nippon. Within C. elaphus clade, 4 subclades were well differentiated and statistically highly supported: C. elaphus (New Zealand), C. e. yarkandensis, C. c. canadensis and the other grouping the rest of C. canadensis from China. In the C. nippon clade, 2 well-distinct subclades corresponding to C. n. aplodontus and other C. nippon populations were separated. Phylogenetic reconstruction indicated that the first evolutionary event of the genus Cervus occurred approximately 7.4 millions of years ago. The split between C. elaphus and C. nippon could be estimated at around 3.6 millions of years ago. Phylogenetic ML tree of all samples based on individual SNP matrices, together with geographic distribution, have shown that there were 3 major subclades of C. elaphus and C. canadensis in China, namely C. e. yarkandensis (distributed in Tarim Basin), C. c. macneilli/C. c. kansuensis/C. c. alashanicus (distributed in middle west of China), and C. c. songaricus/C. c. sibiricus (distributed in northwest of China). Among them, C. e. yarkandensis was molecularly the most primitive subclade, with a differentiation dating back to 0.8-2.2 Myr ago. D statistical analysis showed that there was high probability of interspecific gene exchange between C. albirostris and C. eldii, C. albirostris and C. unicolor, C. nippon and C. unicolor, and there might be 2 migration events among 5 species in the genus Cervus. CONCLUSIONS: Our results provided new insight to the genetic diversity and phylogeny of Cervus deer. In view of the current status of these populations, their conservation category will need to be reassessed.

Molecular Cloning and Bioinformatics Analysis of DQA Gene from Mink (Neovison vison).

In the present study, we cloned, sequenced, and explored the structural and functional characteristics of the major histocompatibility complex (MHC)-DQA gene from mink (Neovison vison) for the first time. The full-length sequence of DQA gene was 1147-bp-long, contained a coding region of 768-bp, which was predicted to encoding 255 amino acid residues. The comparison between DQA from mink (Neovison vison) and other MHC-DQA molecules from different animal species showed that nucleotide and encoded amino acid sequences of the mink DQA gene exhibited high similarity with the ferret (Mustela pulourius furo). Phylogenetic analysis revealed that mink (Neovison vison) DQA is grouped with that of ferret (Mustela pulourius furo). The cloned sequence contained a 23-amino acid NH2-terminal signal sequence with the signal peptide cutting site located in amino acids 23⁻24, and had three Asn-Xaa-Ser/Thr sequons. Three cysteine residues were also identified (Cys-85, Cys-121, and Cys-138). The 218 to 240 amino acids were predicted to be the transmembrane domains. The prediction of the secondary structure revealed three α-helixes and fourteen ß-sheets in Neovison vison DQA protein, while random coil was a major pattern. In this study, the whole CDS sequence of Neovison vison DQA gene was successfully cloned, which was valuable for exploring the function and antiviral molecular mechanisms underlying the molecule. The findings of the present study have laid the foundation for the disease resistance and breeding of mink.

[Floating-Harbor syndrome: a case report and literature review].

Floating-Harbor syndrome (FHS) is an autosomal dominant genetic disease caused by SRCAP mutation. This article reports the clinical features of a boy with FHS. The boy, aged 11 years and 7 months, attended the hospital due to short stature for more than 8 years and had the clinical manifestations of unusual facial features (triangularly shaped face, thin lips and long eyelashes), skeletal dysplasia (curvature finger), expressive language disorder, and retardation of bone age. Genetic detection revealed a novel heterozygous mutation, c.7330 C>T(p.R2444X), in the SRCAP gene. The boy was diagnosed with FHS based on these clinical manifestations and gene detection results. FHS is rare in clinical practice, which may lead to missed diagnosis and misdiagnosis, and gene detection may help with the clinical diagnosis of FHS in children.

Anion-π Interaction-Induced Room-Temperature Phosphorescence of a Polyoxometalate-Based Charge-Transfer Hybrid Material.

Room-temperature phosphorescence (RTP) was realized for the first time in a polyoxometalate-based charge-transfer (CT) hybrid material bearing polyoxometalates (POMs) as electron-donors (D) and rigid naphthalene diimides (NDIs) as electron-acceptors (A), meanwhile, this hybrid material displayed photochromism as well. The significant D-A anion-π interaction induced an additional through-space charge-transfer pathway. The resulting suitable D-A CT states can efficiently bridge the relatively large energy gap between the NDI-localized 1 π-π* and 3 π-π* states and thus trigger the ligand-localized phosphorescence (3 π-π*).

A smartphone-based teleconsultation system for the management of chronic pressure injuries.

We investigated the accuracy of pressure injury evaluation using tele-devices and examined the concordance between automatically generated recommendations and primary manual recommendations. Caregivers took photos and videos of pressure injuries using smartphones with built-in cameras and uploaded the media to the application. The wound team evaluated the wound using a specially modified version of the Pressure Sore Status Tool. This was compared with the Pressure Sore Status Tool score assessed during the actual examination of the patient. We developed an automatic algorithm for dressing based on the Pressure Sore Status Tool score, checking for consistency between this and the primary manual recommendation. A total of 60 patients diagnosed with pressure injuries were included. The κ coefficients indicated substantial agreement for wound size and total score, and excellent for all other items. We found that the overall concordance rates were statistically significant for all items (p < 0.001). For the primary dressing, the κ coefficient for the concordance rate of automatic algorithm and manual recommendation was 0.771, while that of teleconsultation system and manual recommendation was 0.971. For the secondary dressing, the figures were 0.798 and 0.989, respectively. All values were statistically significant (p < 0.001). We presented strong evidence documenting the utilization of a smartphone, patient-driven system, and demonstrated that the measurements obtained were comparable to the ones obtained by a trained, on-site, wound team. Furthermore, we confirmed agreement between automatically generated recommendations and primary manual recommendations.

Large-area few-layer hexagonal boron nitride prepared by quadrupole field aided exfoliation.

A quadrupole electric field-mediated exfoliation method is proposed to convert micron-sized hexagonal boron nitride (h-BN) powder into few-layer hexagonal boron nitride nanosheets (h-BNNS). Under optimum conditions (400 Hz, 40 V, 32 µg ml-1, sodium deoxycholate, TAE medium), the h-BN powders (thickness >200 nm, horizontal scale ∼10 µm) are successfully exfoliated into 0.5-4 nm (1-10 layers) thick h-BNNS with the same horizontal scale. Dynamic laser scattering and atomic force microscope data show that the yield is 47.6% (for the portion with the thickness of 0.5-6 nm), and all of the vertical sizes are reduced to smaller than 18 nm (45 layers).