Effectiveness and safety of SR-ENS-600endoscopic surgical system in benign and malignant gynecological diseases: a prospective, multicenter, clinical trial with 63 cases.

Single-port laparoscopy has gained more attention, but inherent technical challenges hinder its wider use. To overcome the disadvantage of traditional single-port surgery, robotic laparoendoscopic single-site surgery system was designed and clinically utilized. This multi-center single-arm trial was aimed to present the clinical outcomes of the SHURUI robotic endoscopic single-site surgery system. 63 women with ovary cysts, myoma, cervical epithelial neoplasm, or endometrial carcinoma were recruited at 6 academic medical centers in different districts of China. The trial was registered on September 5, 2023, with the register number: ChiCTR2300075431, retrospectively registered. Patients underwent robotic LESS surgery with the SHURUI endoscopic surgical system from January 17 to May 26, 2023. Demographic information, perioperative parameters, complications, scar healing, and operator satisfaction scores were recorded. Patients were followed up for 30 ± 4 days. Average operative time and estimated blood loss were 157.03 ± 75.24 min and 63.86 ± 98.33 ml, respectively, for all surgeries. Average anal exhaust time and hospitalization stay were 30.99 ± 14.25 h and 3.63 ± 1.59 days, respectively. Patients' postoperative rehabilitation assessment showed satisfactory results on the day of discharge and 30 ± 4 days after surgery. The surgery achieved good cosmetic benefits and was surgeon friendly. There were no conversions to alternative surgical modalities, complications, or readmissions. The SHURUI endoscopic surgical system showed both the technical feasibility and safety of this surgical modality for gynecologic patients. Further randomized studies comparing this modality with traditional LESS surgery are suggested.

Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders.

BACKGROUND: Genodermatoses are a broad group of disorders with specific or non-specific skin-based phenotypes, most of which are monogenic disorders. However, it's a great challenge to make a precise molecular diagnosis because of the clinical heterogeneity. The genetic and clinical heterogeneity brings great challenges for diagnosis in dermatology. The whole exome sequencing (WES) not only expedites the discovery of the genetic variations, but also contributes to genetic counselling and prenatal diagnosis. MATERIALS AND METHODS: Followed by the initial clinical and pathological diagnosis, genetic variations were identified by WES. The pathogenicity of the copy number variations (CNVs) and single-nucleotide variants (SNVs) were evaluated according to ACMG guidelines. Candidate pathogenic SNVs were confirmed by Sanger sequencing in the proband and the family members. RESULTS: Totally 25 cases were recruited. Nine novel variations, including c.5546G > C and c.1457delC in NF1, c.6110G > T in COL7A1, c.2127delG in TSC1, c.1445 C > A and c.1265G > A in TYR, Xp22.31 deletion in STS, c.908 C > T in ATP2A2, c.1371insC in IKBKG, and nine known ones were identified in 16 cases (64%). Prenatal diagnosis was applied in 6 pregnant women by amniocentesis, two of whom carried positive findings. CONCLUSIONS: Our findings highlighted the value of WES as a first-tier genetic test in determining the molecular diagnosis. We also discovered the distribution of genodermatoses in this district, which provided a novel clinical dataset for dermatologists.

Developmental transcriptomics throughout the embryonic developmental process of Rhipicephalus turanicus reveals stage-specific gene expression profiles.

BACKGROUND: Ticks are important vectors and transmit diverse pathogens, including protozoa, viruses, and bacteria. Tick-borne diseases can cause damage to both human health and the livestock industries. The control and prevention of ticks and tick-borne diseases has relied heavily on acaricides. METHODS: In the present study, using a high-throughput RNA sequencing (RNA-Seq) technique, we performed a comprehensive time-series transcriptomic analysis throughout the embryogenesis period of Rhipicephalus turanicus. RESULTS: Altogether, 127,157 unigenes were assembled and clustered. Gene expression differences among the embryonic stages demonstrated that the most differentially expressed genes (DEGs) were observed in the comparisons of early embryonic stages (RTE5 vs. RTE10, 9726 genes), and there were far fewer DEGs in later stages (RTE25 vs. RTE30, 2751 genes). Furthermore, 16 distinct gene modules were identified according to weighted gene co-expression network analysis (WGCNA), and genes in different modules displayed stage-specific characteristics. Gene Ontology (GO) annotations and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment suggested that some genes involved in organ and tissue formation were significantly upregulated in the early embryonic developmental stages, whereas metabolism-related pathways were more enriched in the later embryonic developmental stages. CONCLUSIONS: These transcriptome studies revealed gene expression profiles at different stages of embryonic development, which would be useful for interrupting the embryonic development of ticks and disrupting the transmission of tick-borne diseases.