Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder primarily caused by pathogenic variants in the TSC1 or TSC2 genes. It is characterized by multisystem hamartomatous lesions and neuropsychiatric manifestations. Here we report a young male patient with TSC involving multiple organs, caused by a heterozygous frameshift mutation in TSC2 (c.2071delC, p.Arg691Alafs^*7). The patient initially presented with classic facial angiofibromas and hypomelanotic macules, and subsequently developed psychiatric and behavioral disturbances with auditory hallucinations. Neuroimaging revealed an intracranial mass lesion, which was confirmed as a subependymal giant cell astrocytoma on postoperative histopathology following surgery performed at an outside institution. After admission, the patient underwent a comprehensive diagnostic workup, and multidisciplinary treatment evaluation revealed extensive multisystem involve-ment, including the nervous system, skin, kidneys, lungs, heart, eyes, pancreas, liver and bones. Combined with relevant literature, this article discusses the molecular mechanisms, clinical phenotypes, and comprehensive management of TSC, in order to provide a reference for the standardized and individualized management of this disease.

Aortic dissection is a serious cardiovascular disease characterized by acute onset and high mortality rates. Although advancements in surgical techniques and anesthesia methods have significantly reduced surgical mortality, postoperative complications, particularly pulmonary complications, remain a challenge for the recovery of patients with aortic dissection. Existing studies indicate that respiratory rehabilitation plays a crucial role in preventing and alleviating postoperative pulmonary complications, and its application is gradually expanding. However, current understanding of respiratory rehabilitation treatment for patients with aortic dissection is still insufficient, and there is a lack of standardized protocols in clinical practice. This article aims to review the existing research evidence, comprehensively analyze common pulmonary complications after aortic dissection surgery, their pathogenesis, the latest advancements in perioperative respiratory rehabilitation, and the main challenges faced, in order to provide references for clinical practice and future research.

Instrument separation is a critical complication during root canal therapy, impacting treatment success and long-term tooth preservation. The etiology of instrument separation is multifactorial, involving the intricate anatomy of the root canal system, instrument-related factors, and instrumentation techniques. Instrument separation can hinder thorough cleaning, shaping, and obturation of the root canal, posing challenges to successful treatment outcomes. Although retrieval of separated instrument is often feasible, it carries risks including perforation, excessive removal of tooth structure and root fractures. Effective management of separated instruments requires a comprehensive understanding of the contributing factors, meticulous preoperative assessment, and precise evaluation of the retrieval difficulty. The application of appropriate retrieval techniques is essential to minimize complications and optimize clinical outcomes. The current manuscript provides a framework for understanding the causes, risk factors, and clinical management principles of instrument separation. By integrating effective strategies, endodontists can enhance decision-making, improve endodontic treatment success and ensure the preservation of natural dentition.
Humans ; Root Canal Therapy/adverse effects* ; Consensus ; Root Canal Preparation/adverse effects*

Objective:To investigate the relation between temporal expression changes of proline-rich transmembrane protein 2 ( PRRT2) gene and clinical progression of PRRT2-related paroxysmal disorders (PRPDs). Methods:A retrospective analysis was performed; 19 patients with PRPDs admitted to Department of Neurology, Second Affiliated Hospital of Guangzhou Medical University from July 2021 to July 2024 were enrolled; their clinical data, including onset age and disease progression, were collected. Using Bgee database, the PRRT2 gene expressions in different age groups were analyzed to explore their relations with clinical progression. Results:Among the 19 patients, 8 were diagnosed as having infantile convulsion with choreoathetosis (ICCA), 1 patient as having infantile convulsion, and 10 as having paroxysmal kinesigenic dyskinesia (PKD). Among patients with ICCA, the disease course was divided into two stages: in infantile period, it manifested as infantile convulsions at the onset, with an onset age of (5.75±1.03) months, ranged 4-7 months; in early childhood, no seizures were noted, enjoying a silent period and lasting for a period ranged 7-15 years; subsequently, the disease relapsed during adolescent, presenting as dyskinesia, with an onset age of (11.75±3.11) years, ranged 8-16 years. Among patients with PKD, onset age was (10.40±3.17) years, ranged 5-17 years. PRRT2 expression peaked before 1 year old, declined to the lowest level at 10 years old, and then gradually increased, reaching a second peak at 17 years old; PRRT2 expression demonstrated bimodal peaks during early childhood and adolescence. Conclusion:PRPDs progression shows a certain consistency with the temporal change of PRRT2 gene expression.

BACKGROUND:Long noncoding RNA TP53TG1(lncRNA TP53TG1)is involved in regulating the proliferation,migration,invasion,and apoptosis of various cancer cells,but there are few reports on its role in other cells.OBJECTIVE:To investigate the effects and pathways of lncRNA TP53TG1 on the proliferation and differentiation of human stem cells from the apical papilla.METHODS:Human stem cells from the apical papilla were isolated and cultured,and then transfected with lncRNA TP53TG1 overexpression lentivirus.RT-qPCR was used to detect the overexpression efficiency of lncRNA TP53TG1.Western blot assay was used to detect the relative expression levels of PI3K,AKT,ERK,P38,Smad3,and their phosphorylated proteins.Human stem cells from the apical papilla were divided into the empty lentiviral vector transfection group and the lncRNA TP53TG1 overexpression group.CCK-8 assay was used to measure the cell proliferation.Alkaline phosphatase activity was detected by alkaline phosphatase staining on day 5 of osteogenic induction.Formation of mineralized nodules was detected by alizarin red staining on day 21 of osteogenic induction.RT-qPCR was used to detect the mRNA expression levels of dentin sialophosphoprotein,Runt-related transcription factor 2,dentin matrix protein 1,and bone sialoprotein on days 3,7,and 14 of osteogenic induction.Western blot assay was used to detect the protein expression levels of dentin sialophosphoprotein and Runt-related transcription factor 2 on days 3,7,and 14 of osteogenic induction.RESULTS AND CONCLUSION:(1)RT-qPCR results showed that the lentivirus was successfully integrated into the genome of stem cells from the apical papilla.Western blot assay results showed that overexpression of lncRNA TP53TG1 up-regulated the protein levels of p-PI3K and p-AKT without affecting the expression of phosphorylated proteins in other pathways.(2)Starting from day 3 of cell culture,overexpression of lncRNA TP53TG1 significantly promoted the proliferation of stem cells from the apical papilla.(3)In the process of inducing odontogenic differentiation of stem cells from the apical papilla,overexpression of lncRNA TP53TG1 promoted the expression of odontogenic and osteogenic differentiation-related genes and proteins,significantly increased alkaline phosphatase activity and mineralized nodule formation.(4)The results show that lncRNA TP53TG1 may promote the odontogenic and osteogenic differentiation of stem cells from the apical papilla by activating the PI3K/AKT signaling pathway.

BACKGROUND:Long noncoding RNA TP53TG1(lncRNA TP53TG1)is involved in regulating the proliferation,migration,invasion,and apoptosis of various cancer cells,but there are few reports on its role in other cells.OBJECTIVE:To investigate the effects and pathways of lncRNA TP53TG1 on the proliferation and differentiation of human stem cells from the apical papilla.METHODS:Human stem cells from the apical papilla were isolated and cultured,and then transfected with lncRNA TP53TG1 overexpression lentivirus.RT-qPCR was used to detect the overexpression efficiency of lncRNA TP53TG1.Western blot assay was used to detect the relative expression levels of PI3K,AKT,ERK,P38,Smad3,and their phosphorylated proteins.Human stem cells from the apical papilla were divided into the empty lentiviral vector transfection group and the lncRNA TP53TG1 overexpression group.CCK-8 assay was used to measure the cell proliferation.Alkaline phosphatase activity was detected by alkaline phosphatase staining on day 5 of osteogenic induction.Formation of mineralized nodules was detected by alizarin red staining on day 21 of osteogenic induction.RT-qPCR was used to detect the mRNA expression levels of dentin sialophosphoprotein,Runt-related transcription factor 2,dentin matrix protein 1,and bone sialoprotein on days 3,7,and 14 of osteogenic induction.Western blot assay was used to detect the protein expression levels of dentin sialophosphoprotein and Runt-related transcription factor 2 on days 3,7,and 14 of osteogenic induction.RESULTS AND CONCLUSION:(1)RT-qPCR results showed that the lentivirus was successfully integrated into the genome of stem cells from the apical papilla.Western blot assay results showed that overexpression of lncRNA TP53TG1 up-regulated the protein levels of p-PI3K and p-AKT without affecting the expression of phosphorylated proteins in other pathways.(2)Starting from day 3 of cell culture,overexpression of lncRNA TP53TG1 significantly promoted the proliferation of stem cells from the apical papilla.(3)In the process of inducing odontogenic differentiation of stem cells from the apical papilla,overexpression of lncRNA TP53TG1 promoted the expression of odontogenic and osteogenic differentiation-related genes and proteins,significantly increased alkaline phosphatase activity and mineralized nodule formation.(4)The results show that lncRNA TP53TG1 may promote the odontogenic and osteogenic differentiation of stem cells from the apical papilla by activating the PI3K/AKT signaling pathway.

Objective:To investigate the current status of postoperative Day 1 ambulation in patients undergoing posterior lumbar interbody fusion (PLIF) surgery under an enhanced recovery after surgery (ERAS) protocol, analyze the influencing factors of successful ambulation on postoperative Day 1, and explore the impact of early ambulation on postoperative recovery.Methods:Data from 397 patients who underwent PLIF surgery at Beijing Jishuitan Hospital, Capital Medical University, from September 2023 to July 2024 were retrospectively collected. Patients were divided into two groups based on whether they successfully ambulated on postoperative Day 1: the successful ambulation on Day 1 group and the delayed ambulation group. Binary Logistic regression was used to analyze the factors influencing successful ambulation on postoperative Day 1. Postoperative recovery indicators, including catheter removal time, hospital length of stay, drainage volume on postoperative Day 3, and pain scores for the low back and legs, were compared between the two groups.Results:A total of 378 patients were included in the analysis. Among them, 316 patients (83.6%) successfully ambulated on postoperative Day 1, while 62 patients (16.4%) had delayed ambulation. Logistic regression analysis indicated that postoperative Day 1 hemoglobin classification and pre-ambulation low back pain score in the supine position were independent factors influencing successful ambulation on Day 1 ( P<0.05). The successful ambulation group had a shorter catheter removal time and hospital stay compared to the delayed ambulation group, with statistically significant differences ( P<0.05). There were no significant differences between the two groups in postoperative drainage volume, low back pain scores, leg pain scores, or Oswestry Disability Index scores before discharge (all P>0.05) . Conclusions:Postoperative Day 1 hemoglobin levels and pre-ambulation low back pain scores are independent factors influencing the success of ambulation on postoperative Day 1 in patients undergoing PLIF surgery. Early ambulation on postoperative Day 1 helps reduce catheter removal time and length of hospital stay without increasing postoperative drainage or pain levels.

ObjectiveBased on the conjoint analysis of transcriptome and metabolome， the key genes in the phenylpropanoid biosynthesis pathway of Lonicera macranthoides were explored， which provided a basis for further exploring the synthesis and regulation mechanism of phenylpropanoid compounds in "Xianglei" L. macranthoides. MethodsThe stem， leaves， and three flowering flowers of "Xianglei" L. macranthoides were selected as experimental materials to construct transcriptome and metabolome. The transcriptome and metabolomics were conjointly analyzed by the Kyoto Encyclopedia of Genes and Genomes （KEGG） database and weighted correlation network analysis （WGCNA）， and the key genes in the phenylpropanoid biosynthesis pathway of L. macranthoides were explored. ResultsIn this study， 77 differential phenylpropanoids and 315 differential genes were found. Through the joint analysis of transcription and metabolism， nine key differential metabolites and four key genes related to them were finally discovered. Among them， cinnamic acid， 5-O-caffeoylshikimic acid，sinapyl alcohol， and chlorogenic acid were higher in flowers， and the content of the iconic effective component， namely chlorogenic acid，decreased sharply during the withering period. Caffeic acid，ferulic acid， 5-hydroxyconiferaldehyde，p-coumaryl alcohol， and syringin were higher in leaves. These four key genes belong to the cinnamic alcohol dehydrogenase （CAD） family， 4-coumaric acid： Coenzyme A （4CL） family， hydroxycinnamyl transferase （HCT） family， and L-phenylalanine ammonlyase （PAL） family genes. ConclusionAmong the four key genes excavated from L. macranthoides， TRINITY_DN42767_c0_g6 is related to the synthesis of p-coumaryl alcohol and sinapyl alcohol. TRINITY_DN43525_c4_g1 uses caffeic acid，ferulic acid，and cinnamic acid as substrates to catalyze the next reaction. TRINITY_DN47958_c3_g4 correlates with the synthesis of 3-p-coumaroyl quinic acid and caffeoyl-CoA， and TRINITY_DN52595_c1_g2 correlates with cinnamic acid synthesis. These findings provide a basis for further exploring the synthesis and regulation mechanism of phenylpropanoids in "Xianglei" L. macranthoides.

Objective:To investigate the current status of postoperative Day 1 ambulation in patients undergoing posterior lumbar interbody fusion (PLIF) surgery under an enhanced recovery after surgery (ERAS) protocol, analyze the influencing factors of successful ambulation on postoperative Day 1, and explore the impact of early ambulation on postoperative recovery.Methods:Data from 397 patients who underwent PLIF surgery at Beijing Jishuitan Hospital, Capital Medical University, from September 2023 to July 2024 were retrospectively collected. Patients were divided into two groups based on whether they successfully ambulated on postoperative Day 1: the successful ambulation on Day 1 group and the delayed ambulation group. Binary Logistic regression was used to analyze the factors influencing successful ambulation on postoperative Day 1. Postoperative recovery indicators, including catheter removal time, hospital length of stay, drainage volume on postoperative Day 3, and pain scores for the low back and legs, were compared between the two groups.Results:A total of 378 patients were included in the analysis. Among them, 316 patients (83.6%) successfully ambulated on postoperative Day 1, while 62 patients (16.4%) had delayed ambulation. Logistic regression analysis indicated that postoperative Day 1 hemoglobin classification and pre-ambulation low back pain score in the supine position were independent factors influencing successful ambulation on Day 1 ( P<0.05). The successful ambulation group had a shorter catheter removal time and hospital stay compared to the delayed ambulation group, with statistically significant differences ( P<0.05). There were no significant differences between the two groups in postoperative drainage volume, low back pain scores, leg pain scores, or Oswestry Disability Index scores before discharge (all P>0.05) . Conclusions:Postoperative Day 1 hemoglobin levels and pre-ambulation low back pain scores are independent factors influencing the success of ambulation on postoperative Day 1 in patients undergoing PLIF surgery. Early ambulation on postoperative Day 1 helps reduce catheter removal time and length of hospital stay without increasing postoperative drainage or pain levels.

Objective:To investigate the relation between temporal expression changes of proline-rich transmembrane protein 2 ( PRRT2) gene and clinical progression of PRRT2-related paroxysmal disorders (PRPDs). Methods:A retrospective analysis was performed; 19 patients with PRPDs admitted to Department of Neurology, Second Affiliated Hospital of Guangzhou Medical University from July 2021 to July 2024 were enrolled; their clinical data, including onset age and disease progression, were collected. Using Bgee database, the PRRT2 gene expressions in different age groups were analyzed to explore their relations with clinical progression. Results:Among the 19 patients, 8 were diagnosed as having infantile convulsion with choreoathetosis (ICCA), 1 patient as having infantile convulsion, and 10 as having paroxysmal kinesigenic dyskinesia (PKD). Among patients with ICCA, the disease course was divided into two stages: in infantile period, it manifested as infantile convulsions at the onset, with an onset age of (5.75±1.03) months, ranged 4-7 months; in early childhood, no seizures were noted, enjoying a silent period and lasting for a period ranged 7-15 years; subsequently, the disease relapsed during adolescent, presenting as dyskinesia, with an onset age of (11.75±3.11) years, ranged 8-16 years. Among patients with PKD, onset age was (10.40±3.17) years, ranged 5-17 years. PRRT2 expression peaked before 1 year old, declined to the lowest level at 10 years old, and then gradually increased, reaching a second peak at 17 years old; PRRT2 expression demonstrated bimodal peaks during early childhood and adolescence. Conclusion:PRPDs progression shows a certain consistency with the temporal change of PRRT2 gene expression.