OBJECTIVE: To explore the genetic etiology of 46 Chinese pedigrees affected with Hereditary multiple exostoses (HME) and provide genetic counseling and reproductive intervention. METHODS: Whole-exome sequencing and Sanger sequencing were carried out on 87 patients from the 46 pedigrees to analyze the variants of EXT1 and EXT2 genes. Pathogenicity of the variants was assessed based on the guidelines from the American College of Medical Genetics and Genomics and Association for Molecular Pathology (ACMG/AMP). Prenatal diagnosis and preimplantation genetic testing (PGT) were provided for couples with identified pathogenic mutations. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: LL-SC-SG-2014-010). RESULTS: In total 17 and 22 pathogenic variants were respectively identified in the EXT1 and EXT2 genes, among which 5 EXT1 and 12 EXT2 variants were unreported previously. Three patients with no family history were found to harbor de novo variants of the EXT1 gene. Twenty nine couples had opted for PGT or underwent prenatal diagnosis following natural conception, and 17 healthy babies were born. CONCLUSION This study has clarified the genetic etiology of 45 HME pedigrees and identified 17 novel variants, which has enriched the mutational spectrum of the EXT1 and EXT2 genes. Reproductive intervention through PGT and prenatal diagnosis have prevented the recurrence of HME in these families.
Humans ; Female ; Male ; Pedigree ; Exostoses, Multiple Hereditary/diagnosis* ; N-Acetylglucosaminyltransferases/genetics* ; Adult ; Exostosin 1 ; Asian People/genetics* ; Genetic Testing ; Exostosin 2 ; Mutation ; China ; Prenatal Diagnosis ; Pregnancy ; Genetic Counseling ; Preimplantation Diagnosis ; Exome Sequencing ; East Asian People

OBJECTIVES: To investigate the expression of soluble factor-related apoptosis ligand (sFasL) in peripheral blood and microRNA-147b (miR-147b) in monocytes in children with sepsis and their value in assessing prognosis. METHODS: A prospective study was conducted on 124 children with sepsis (sepsis group), 60 children with common infections (infection group), and 60 healthy children undergoing physical examinations (healthy control group). The independent risk factors for poor prognosis in children with sepsis were analyzed, and the value of serum sFasL and monocyte miR-147b in predicting poor prognosis in children with sepsis was assessed. RESULTS: The serum level of sFasL and the relative expression of miR-147b in monocytes were highest in the sepsis group, followed by the infection group and the healthy control group (P<0.05). The multivariate logistic regression analysis showed that the serum level of sFasL and the relative expression of miR-147b in monocytes were closely associated with the poor prognosis of children with sepsis (P<0.05). The receiver operating characteristic curve analysis showed that the combination of serum sFasL level and relative expression of miR-147b in monocytes had a larger area under the curve compared to each indicator alone in predicting the prognosis of children with sepsis (P<0.05). CONCLUSIONS There are significant increases in the level of sFasL in peripheral blood and the relative expression of miR-147b in monocytes in children with sepsis. The combined use of these two indicators has relatively high clinical value in assessing the prognosis of children with sepsis.
Humans ; Sepsis/diagnosis* ; MicroRNAs/blood* ; Male ; Female ; Monocytes/metabolism* ; Prognosis ; Child, Preschool ; Prospective Studies ; Child ; Infant ; TNF-Related Apoptosis-Inducing Ligand/blood* ; Logistic Models

This article provides a comprehensive review of the progress in the application of transoral robotic surgery（TORS） in the field of head and neck surgery. It elaborates on its developmental background and technical principles as a subset of natural orifice endoscopic surgery and highlights the technical characteristics and optimization trends of both general-purpose and specialized surgical robotic platforms. The review emphasizes the key advantages of TORS in addressing the limitations of traditional transoral surgery, improving surgical precision, and expanding the scope of surgical indications. This in-depth analysis serves as a valuable reference for the future development and wider adoption of TORS technology in head and neck surgery.
Humans ; Robotic Surgical Procedures/methods* ; Natural Orifice Endoscopic Surgery/methods* ; Mouth/surgery*

Chronic cerebral hypoperfusion leads to white matter injury (WMI), which plays a significant role in contributing to vascular cognitive impairment. While 13-docosenamide is a type of fatty acid amide, it remains unclear whether it has therapeutic effects on chronic cerebral hypoperfusion. In this study, we conducted bilateral common carotid artery stenosis (BCAS) surgery to simulate chronic cerebral hypoperfusion-induced WMI and cognitive impairment. Our findings showed that 13-docosenamide alleviates WMI and cognitive impairment in BCAS mice. Mechanistically, 13-docosenamide specifically binds to cannabinoid receptor 1 (CNR1) in oligodendrocyte precursor cells (OPCs). This interaction results in an upregulation of ubiquitin-specific peptidase 33 (USP33)-mediated CNR1 deubiquitination, subsequently increasing CNR1 protein expression, activating the phosphorylation of the AKT/mTOR pathway, and promoting the differentiation of OPCs. In conclusion, our study suggests that 13-docosenamide can ameliorate chronic cerebral hypoperfusion-induced WMI and cognitive impairment by enhancing OPC differentiation and could serve as a potential therapeutic drug.
Animals ; Oligodendrocyte Precursor Cells/metabolism* ; Mice ; Cell Differentiation/drug effects* ; Male ; Receptor, Cannabinoid, CB1/metabolism* ; Mice, Inbred C57BL ; Ubiquitin Thiolesterase/metabolism* ; Ubiquitination/drug effects* ; Carotid Stenosis/complications* ; Cognitive Dysfunction/drug therapy*

The study was aimed at identifying the diversity of tick species in selected areas of Qinghai,to analyze the genetic differentiation characteristics of tick-borne spotted fever group rickettsiae(SFGR),and to provide the theoretical basis for SFGR prevention and control in the region.The 16S rRNA gene was used for molecular biological identification of 446 collected tick samples,and the infection characteristics of SFGR in tick samples were determined according to the SFGR outer membrane protein A(ompA)gene.Haplotype analysis,phylogenetic tree construction,and estimation of differentiation times for SFGR were conducted in DNASP v6,IQ-tree v2.2.0,and BEAST v2.7.4 software.The obtained 446 tick samples belonged to three categories:(1)Haemaphy-salis spp.,including Haemaphysalis qinghaiensis(n=192)and H.danieli(n=37);(2)Dermacentor spp.,including Dermacentor ever-estianus(n=121),D.nuttalli(n=55),and D.silvarum(n=36);and(3)Hyalomma marginatum(n=5).Rickettsia raoultii was de-tected in D.everestianus,D.silvarum,D.nuttalli,H.qinghaiensis,and H.danieli,with infection rates of 95.9%,80.6%,69.1%,4.1%,and 2.7%,respectively.R.sibirica subsp.sibirica BJ-90 was found only in D.silvarum and D.nuttalli,with infection rates of 5.6%and 1.8%,respectively.The Candidatus R.gannanii F107 was found in H.danieli and H.qinghaiensis,with infection rates of 16.2%and 7.8%,respectively.Ca.R.hongyuanensis was detected only in H.qinghaiensis,with a prevalence of 16.3%.The prevalence of R.aeschlimannii was 20%and 2.7%in Hy.marginatum and H.danieli,respectively.Haplotype and nucleotide polymorphism analy-ses revealed 13 haplotypes in R.raoultii,with haplotype H13 as the dominant haplotype(42/192);seven haplotypes in Ca.R.ganna-nii F107,with haplotype H4 as the dominant haplotype(4/18);and three haplotypes in Ca.R.hongyuanensis,with haplotype H1 as the dominant haplotype(11/13).The phylogenetic tree indicated that the sequences of R.raoultii in selected areas of Qinghai and R.rhipicephali clustered into one branch;Ca.R.hongyuanensis and Ca.R.gannanii F107 clustered into one branch;and R.sibirica subsp.sibirica BJ-90 clustered into one branch with R.sibirica.Estimates of differentiation time revealed that the mean differentiation time for the six Rickettsia was approximately 2 000 Mya(95%CI:1 999.08-2 001.02 Mya).The tick species distributed in selected ar-eas of Qinghai are diverse,and this study provides the first report of Hy.marginatum in Qinghai Province.SFGR significantly varied in prevalence among tick species and showed high genetic diversity.

To achieve rapid and visual detection of Plasmodium vivax,a detection method based on recombinase polymerase amplification(RPA)technology and lateral flow dipstick(LFD)was established and evaluated.Targeting the conserved sequence of the P.vivax 18S rRNA gene(GenBank:DQ660817.1)as the target sequence,primers and probes were designed with Primer Premier 5,and the P.vivax recombinant plasmid(pUCPv)was constructed as the standard.A sensitive and specific RPA-LFD-based rapid visual detection method for P.vivax nucleic acids was established.The plasmid standard was serially diluted 10-fold to concentrations of 1×103,1×102,1×101,1×10?,and 1×10?1 copies/μL for sensitivity testing.To evaluate specificity,whole blood DNA samples from patients infected with Plasmodium falciparum,Plasmodium malariae,Plasmodium ovale,or Leishmania donovani,as well as healthy participants,were tested by RPA-LFD.Additionally,The assay′s accuracy was evaluated by testing whole blood DNA samples from 24 confirmed P.vivax-infected patients.This study successfully established a sensitive,specific,and rapid visual RPA-LFD method for detecting P.vivax nucleic acids.The assay can complete P.vivax detection within 20 minutes under isothermal conditions at 39 ℃,achieving a sensitivity of 1 copy/μL.There is no significant cross reaction with parasites such as other Plasmodium species and L.donovani,and the specificity is 100%.All 24 DNA samples from confirmed P.vivax patients were detected,showing a 100%detection rate.The developed RPA-LFD assay exhibits excellent sensitivity and specificity,requires only simple heating equipment,and is user-friendly.This rapid visual detection method is particularly suitable for P.vivax screening in low-resource settings.

Digital health technologies (DHT) not only enhance patient engagement in healthcare but also enable personalized treatment and care services, empowering patients to manage their own health well. This paper reviews the composition and characteristics of digital vulnerable groups, as well as the current application status, influencing factors, intervention measures, and insights of DHT in their care. This paper aims to provide theoretical and practical references for enhancing the quality of DHT care for digital vulnerable groups, thereby promoting targeted and effective development of DHT within the nursing field.

Subclinical ptosis is a common congenital abnormality of bilateral upper eyelid development; the clinical manifestations are upper eyelid skin covering the upper corneal margin of more than 2 mm, upper eyelid bloat, narrow lid fissure, often accompanied by epicanthus and eyebrow elevation when the eyes are opened. Patients often present with a single eyelid, which can be easily missed and misdiagnosed. The cause of subclinical ptosis is an increase in the afterload of the levator muscle during contraction due to a variety of reasons, such as gravitational, volumetric, and tensile loads; the clinical manifestations and the normalisation of the levator muscle strength are the main basis for diagnosis and identification of true ptosis. Depending on the type of afterload, different surgical treatments are available, such as blepharoplasty, orbicularis oculi myotomy, upper eyelid tissue reduction, fibrous mesh band release, anterior displacement of the levator complex, and shortening of the levator complex.

Objective To observe brain function changes in insomnia disorder(ID)patients and therapeutic effect of repeated transcranial magnetic stimulation(rTMS)based on resting-state functional MRI(rs-fMRI).Methods Totally 37 patients with ID(ID group)and 20 healthy subjects(control group)were prospectively enrolled.The scores of sleep condition and psychological state scales were compared between groups,also within ID group before and after rTMS treatment.Brain regions with amplitude of low frequency fluctuations(ALFF)and regional homogeneity(ReHo)being significantly different between groups were evaluated based on brain rs-fMRI,and voxel-based resting-state functional connectivity(FC)analysis was performed in the above regions and the predefined regions of interest.Results Before treatment,Pittsburgh sleep quality index(PSQI),insomnia severity index(ISI),Epworth sleepiness score(ESS),Beck depression inventory(BDI)score and Beck anxiety inventory(BAI)score in ID group were all higher than those in control group(all P＜0.05).ALFF values and ReHo of the right median cingulate and paracingulate gyrus(Cingulum_Mid_R)were lower in ID group than those in control group(all FWE correctedP＜0.05).FC between Cingulum_Mid_R and the left anterior cingulate gyrus and cingulate gyrus(Cingulum_Ant_L)decreased,so did that between the left hippocampus(Hippocampus_L)and the right frontal gyrus(Frontal_Mid_R)(all FWE corrected P＜0.05).After rTMS,PSQI,ISI and ESS scores of ID patients decreased compared to those before treatment(all P＜0.05),but no significant change of the above neuroimaging indicators was detected(all FWE corrected P＞0.05).Conclusion ID caused synchronous decrease of Cingulum_Mid_R ALFF value and ReHo,as well as weakened FC between frontal cingulate gyrus and frontal with lobe limbic system.rTMS could improve sleep and mental state of ID patients,but its impact on neuroimaging needed further investigation.

This article reports on the nursing experience in the rehabilitation of laryngeal function with primary tracheoesophageal puncture for voice prosthesis rehabilitation after laryngectomy.The core elements of postoperative nursing included:the use of a Heat and Moisture Exchanger(HME)for airway humidification to maintain pulmonary health;the implementation of progressive speech training to aid in the reconstruction of speech function;continuous monitoring and dilatation training to ensure the appropriate size of the stoma,thereby ensuring smooth breathing and speech;nasal airflow-inducing training for the promotion of olfactory rehabilitation;standardized maintenance of the voice prosthesis to extend its lifespan and reduce the occurrence of complications.After meticulous postoperative care,the patient showed good recovery of speech,olfaction,and respiratory function at the one-month follow-up,with the stoma diameter maintained at an ideal size and no complications occurred.