Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoen-cephalopathy (CADASIL) is caused by NOTCH3 gene variants and is predominantly characterized by cerebral small vessel disease. Previous studies have suggested that CADASIL may also involve the macrovascular system. This study aimed to explore the association between rare NOTCH3 variants and macrovascular lesions.

This article reports a rare case of autoinflammatory disease presenting initially with skin induration and swelling after trauma as the initial manifestation, followed by progressive limb weakness. The patient was a middle-aged female who developed skin induration and swelling after trauma, which gradually progressed to limb weakness, dysarthria and bilateral facial paralysis, accompanied by livedo reticularis of the lower extremities, diffuse skin induration of the limbs, and beaded subcutaneous nodules in the right upper limb. The patient had a susceptibility to infection since childhood and a history of chronic livedo reticularis. Skin pathological examination revealed panniculitis. A comprehensive etiological screening for special infections and autoimmune diseases was completed with an unremarkable results, and whole-exome sequencing showed no abnormal findings. Following a multidisciplinary discussion combined with RNA sequencing results, the patient was diagnosed with an autoinflammatory disease, with a suspected type Ⅰ interferonopathy. Treatment with tofacitinib resulted in gradual improvement of clinical symptoms. This case highlights the importance of detailed medical history collection, systematic physical examination and multidisciplinary collaborative diagnosis and treatment, and underscores the pivotal role of molecular diagnosis in the confirmation of rare diseases. It can provide a reference for the clinical diagnosis and management of similar rare cases.

OBJECTIVE: To analyze the effectiveness of single three-dimensional (3D)-printed microporous titanium prostheses and flap combined prostheses implantation in the treatment of large segmental infectious bone defects in limbs. METHODS: A retrospective analysis was conducted on the clinical data of 76 patients with large segmental infectious bone defects in limbs who were treated between January 2019 and February 2024 and met the selection criteria. Among them, 51 were male and 25 were female, with an age of (47.7±9.4) years. Of the 76 patients, 51 had no soft tissue defects (single prostheses group), while 25 had associated soft tissue defects (flap combined group). The single prostheses group included 28 cases of tibial bone defects, 11 cases of femoral defects, 5 cases of humeral defects, 4 cases of radial bone defects, and 3 cases of metacarpal, or carpal bone defects, with bone defect length ranging from 3.5 to 28.0 cm. The flap combined group included 3 cases of extensive dorsum of foot soft tissue defects combined with large segmental metatarsal bone defects, 19 cases of lower leg soft tissue defects combined with large segmental tibial bone defects, and 3 cases of hand and forearm soft tissue defects combined with metacarpal, carpal, or radial bone defects, with bone defect length ranging from 3.8 to 32.0 cm and soft tissue defect areas ranging from 8 cm×5 cm to 33 cm×10 cm. In the first stage, vancomycin-loaded bone cement was used to control infection, and flap repair was performed in the flap combined group. In the second stage, 3D-printed microporous titanium prostheses were implanted. Postoperative assessments were performed to evaluate infection control and bone integration, and pain release was evaluated using the visual analogue scale (VAS) score. RESULTS: All patients were followed up postoperatively, with an average follow-up time of (35.2±13.4) months. In the 61 lower limb injury patients, the time of standing, walk with crutches, and fully bear weight were (2.2±0.6), (3.9±1.1), and (5.4±1.1) months, respectively. The VAS score at 1 year postoperatively was significantly lower than preoperative one ( t=-10.678, P<0.001). At 1 year postoperatively, 69 patients (90.8%) showed no complication such as infection, fracture, prosthesis displacement, or breakage, and X-ray films indicated good integration at the prosthesis-bone interface. According to the Paley scoring system for the healing of infectious bone defects, the results were excellent in 37 cases, good in 29 cases, fair in 3 cases, and poor in 7 cases. In the single prostheses group, during the follow-up, there was 1 case each of femoral prostheses fracture, femoral infection, and tibial infection, with a treatment success rate of 94.1% (48/51). In lower limb injury patients, the time of fully bear weight was (5.0±1.0) months. In the flap combined group, during the follow-up, 1 case of tibial fixation prostheses screw fracture occurred, along with 2 cases of recurrent foot infection in diabetic patients and 1 case of tibial infection. The treatment success rate was 84.0% (21/25). The time of fully bear weight in lower limb injury patients was (5.8±1.2) months. The overall infection eradication rate for all patients was 93.4% (71/76). CONCLUSION The use of 3D-printed microporous titanium prostheses, either alone or in combination with flaps, for the treatment of large segmental infectious bone defects in the limbs results in good effectiveness with a low incidence of complications. It is a feasible strategy for the reconstruction of infectious bone defects.
Humans ; Male ; Female ; Middle Aged ; Printing, Three-Dimensional ; Titanium ; Retrospective Studies ; Surgical Flaps ; Adult ; Prosthesis Implantation/methods* ; Plastic Surgery Procedures/methods* ; Treatment Outcome ; Prostheses and Implants ; Bone Diseases, Infectious/surgery* ; Extremities/surgery* ; Prosthesis Design

ObjectiveTo explore the effect of exercise on anxiety and depression in cancer patients during chemotherapy, as well as the optimal exercise dosage. MethodsA PICO framework was constructed, and randomized controlled trials (RCTs) on the effect of exercise on anxiety and depression in cancer patients during chemotherapy were retrieved from databases of PubMed, Web of Science, Cochrane Library, Embase, Medline, CNKI, VIP and Wanfang data, from the establishment to November, 2023. The quality of the literature was evaluated with Cochrane Risk of Bias Tool and Physiotherapy Evidence Database (PEDro) scale. Data were synthesized and analyzed using RevMan 5.3, and the risk of bias was evaluated using Stata 18.0. ResultsA total of 13 RCTs involving 1 340 subjects were included. The scores of PEDro scale were five to eight. Exercise interventions significantly improved anxiety (SMD = -0.70, 95%CI -1.18 to -0.22, P = 0.004) and depression (SMD = -0.89, 95%CI -1.43 to -0.34, P = 0.002) compared to the control group. Subgroup analyses showed that, the exercise effect on anxiety was less than 45 minutes a time (SMD = -0.26, 95%CI -0.46 to -0.05, P = 0.01), more than three times a week (SMD = -0.26, 95%CI -0.46 to -0.05, P = 0.01), and less than twelve weeks (SMD = -0.21, 95%CI -0.36 to -0.07, P = 0.005). For depression, it was less than 45 minutes a time (SMD = -0.69, 95%CI -1.29 to -0.08, P = 0.03), more than three times a week (SMD = -0.69, 95%CI -1.29 to -0.08, P = 0.03), and less than twelve weeks (SMD = -0.52, 95%CI -0.92 to -0.13, P = 0.01). Moderate to high-intensity exercise interventions significantly outperformed the control group in improving anxiety (SMD = -0.21, 95%CI -0.37 to -0.06, P = 0.007) and depression (SMD = -0.21, 95%CI -0.41 to -0.01, P = 0.04). ConclusionExercise interventions can effectively improve anxiety and depression in cancer patients during chemotherapy, and it suggests for high-intensity exercise, less than 45 minutes a time, more than three times a week, and less than twelve weeks.

Objective To observe the value of artificial intelligence iterative reconstruction(AIIR)combined with 60 kVp scanning in craniocervical CT angiography(CTA).Methods Eighty-six patients with suspected craniocervical vascular diseases were prospectively enrolled and randomly received routine-dose(120 kVp)or low-dose(60 kVp)scanning(each n=43),and contrast dosage and radiation dose were recorded.After scanning,hybrid iterative reconstruction(HIR)was used to reconstruct routine-dose images(group A),while HIR images(group B1)and AIIR images(group B2)were performed to reconstruct low-dose images,respectively.The overall imaging quality,visualization of targeted large and small vessels and diagnostic confidence scores,as well as image noise(SD),signal-to-noise ratio(SNR)and contrast-to-noise ratio(CNR)of targeted large vessels were compared among 3 groups.Results Contrast dosage and effective dose(ED)decreased by 36.52％ and 77.56％ in low-dose scanning compared with those in routine-dose scanning,respectively.No significant difference of subjective scoring of imaging quality indexes was found between groups B2 and A(all adjusted P＞0.05),which were both higher than those in group B1(all adjusted P＜0.05).SD of target large vessels in group B2 than that of most target large vessels in group A(all adjusted P＜0.05)except for aortic arch.SNR and CNR of target large vessels in group B2 were higher than those in group A and B1(all adjusted P＜0.05),while SD of target large vessels in group B2 were lower than in group B1.Conclusion AIIR combined with 60 kVp scanning in craniocervical CTA could meet diagnostic requirements of imaging quality and reduce contrast dosage and radiation dose.

The Shanghai-style pediatric Tuina(Chinese therapeutic massage)school,a renowned academic school of pediatric Tuina in China,was founded by Professor JIN Yicheng,a mentor of the National Senior Traditional Chinese Medicine(TCM)Experts'Clinical Experience Inheritance Class and a distinguished TCM practitioner in Shanghai.This academic school has now been perpetuated through four generations.Prof.JIN Yicheng,a pioneering leader in modern China's pediatric Tuina,has dedicated sixty years to medical practice with unwavering benevolence and adherence to"principled innovation".While delving into traditional and ancient teachings,he has also embraced contemporary advancements.Building upon the essence of traditional pediatric Tuina,he integrated distinctive techniques from various Tuina schools,including the Yi Zhi Chan Tuina school,rolling manipulation Tuina school,and Neigong Tuina school.He also assimilated the quintessence of historical pediatric Tuina literature,the experience of modern Shanghai-based pediatric Tuina masters,and folk techniques while incorporating his years of clinical insights.This synthesis finally led to the formulation of the academic thought of"reinforcing healthy Qi and unblocking regulation"in Shanghai-style pediatric Tuina that guides clinical practice.Specifically,he comprehensively applies techniques such as"unblocking regulation of Zang-Fu organs","unblocking regulation of the four seas","unblocking regulation of the water and fire",and"unblocking regulation of the back"to the prevention and treatment of pediatric diseases across internal medicine,external medicine,orthopedics,and otolaryngology,which has significantly enhanced clinical efficacy and expanded the applicable age range and scope of Tuina for pediatric health issues,more aligning with the characteristics of children and adolescents'health challenges and current clinical demands,and paving a new way in preserving and developing traditional pediatric Tuina.

Objective To search,analyze,and summarize the best available evidence on phar-macological prophylaxis for pregnancy-associated venous thromboembolism(PA-VTE).Methods Uti-lizing evidence-based medicine methodologies,a computerized search was conducted for all evidence pertaining to pharmacological prophylaxis of PA-VTE,including guidelines,expert consensus,sys-tematic reviews,clinical decisions,evidence summaries,and recommended practices.The time for the search ranged from the establishment of relevant databases up to December 13,2024.Two re-searchers independently assessed the quality of the included literature.In cases of disagreement,a third researcher was consulted to reach a consensus on the final evaluation.Results A total of 20 arti-cles were included,comprising 6 guidelines,7 systematic reviews,2 clinical decisions,3 expert consensus documents,and 2 evidence summaries.From seven aspects including drug types,drug selection,drug contraindications,timing of prophylactic medication,prophylactic strategies and implementation plans,medication precautions,and health education,28 pieces of evidence were summarized.Con-clusion This study has compiled the best available evidence on pharmacological prophylaxis for PA-VTE,which can guide healthcare professionals inproviding individualized pharmacological prophylaxis strategies for pregnant women,thereby reducing the incidence of venous thromboembo-lism and improving pregnancy outcomes.

ObjectiveTo analyze and validate how Jiawei Sanpian decoction treats migraines by integrating network pharmacology, molecular docking technology, and experimental studies.MethodUsing network pharmacology, the chemical components and core target proteins of the Jiawei Sanpian decoction were analyzed. Key chemical components were docked with core targets using molecular docking, and the results were visualized. Nitroglycerin was injected into the dorsal cervical region to establish a rat migraine model. Finally, experiments were conducted to verify the effects of Jiawei Sanpian on related pathways and targets.ResultsFour notable chemical components were identified, namely, β-sitosterol, quercetin, mairin, and kaempferol. Five representative targets were identified, namely, insulin-like growth factor 1 (IGF-1), matrix metallopeptidase 2 (MMP-2), interleukin-2 (IL-2), superoxide dismutase 2 (SOD2), and inducible nitric oxide synthase (NOS2). Molecular docking results revealed that the minimum binding energies between the four chemical components and the five targets were below −5 kcal/mol, indicating favorable binding activity. Enzyme linked immunosorbent assay (ELISA) results demonstrated the efficacy of high-dose Jiawei Sanpian decoction in treating migraine by targeting IGF-1, IL-2, MMP-2, and SOD2 (P .001). Real-time quantitative polymerase chain reaction (RT-qPCR) results demonstrated the effectiveness of high-dose Jiawei Sanpian decoction in treating migraine by targeting IGF-1, IL-2, MMP-2, and SOD2 (P .001). After using erastin, the therapeutic effect of Jiawei Sanpian decoction declined.ConclusionThis study provides initial insights into the complex and multilayered therapeutic mechanisms of Jiawei Sanpian decoction in treating migraine, primarily through its diverse components, targets, and pathways. These findings indicate that Jiawei Sanpian decoction may exert its effects mainly through processes linked to the mitochondrial inflammatory pathway, thereby providing therapeutic benefits for migraine.

Currently,there are practical and technical difficulties in the construction of clinical ques-tions in the development of clinical practice guidelines.Clinicians or guideline developers seldom construct clin-ical questions based the actual case scenario,leading to some information loss between structured and actual clinical connotation.To overcome this challenge,we proposed a case-guided questions construction approach,and carried out case research and verification in the formulation of the guideline.We found that this method could more efficiently and scientifically assist the formulation of clinical questions,and provide reference for clinicians or guideline developers.

Objective: To explore whether infected granulation tissue in tooth extraction sockets and maxillary sinus pus share a common microbial profile at the subspecies-strain level in patients with odontogenic maxillary sinusitis (OMS), providing evidence for infection origin tracing and precise antimicrobial therapy in OMS. Methods: This study was reviewed and approved by the institutional ethics committee. Nine consecutive OMS patients who underwent synchronous endoscopic sinus surgery and tooth extraction from October 2020 to August 2022 were prospectively enrolled. Under general anesthesia, paired specimens were collected from infected extraction-socket granulation tissue and maxillary sinus pus. Bacterial DNA was extracted, and the full-length 16S rRNA gene was sequenced on the Illumina MiSeq platform. Amplicon sequence variants (ASVs) were generated using the DADA2 algorithm and taxonomically annotated to the subspecies level against the Human Oral Microbiome Database. The detection rate of shared ASVs between the two sites and their relative abundance in sinus pus were compared. Functional profiles were predicted using Phylogenetic Investigation of Communities by Reconstruction of Unobserved States 2 (PICRUSt2). Results: Shared ASVs were identified in seven of the nine patients. Fusobacterium, Parvimonas, Porphyromonas, and Prevotella were the most prevalent genera. Porphyromonas gingivalis and Fusobacterium nucleatum were co-detected in multiple patients, with relative abundances exceeding 5% in sinus pus of several cases. Identical ASVs of F. nucleatum or Porphyromonas spp. were detected in six patients; the ASVs corresponding to F. nucleatum subsp. nucleatum and Porphyromonas endodontalis were significantly more abundant in sinus pus than in extraction-socket granulation tissue. PICRUSt2 functional profiling revealed that the proportion of socket-derived microbes in sinus pus was strongly correlated with 10 pathways, including ferroptosis, adipocytokine signaling, and apoptosis, et al. Except for biotin metabolism, the remaining pathways showed weak correlation with the proportion of extraction socket-derived ASVs in the extraction-socket granulation tissue and maxillary sinus pus. Removing F. nucleatum ASVs markedly attenuated these associations Conclusion At the subspecies-strain level, this study confirmed the presence of a shared microbial profile between infected extraction-socket granulation tissue and maxillary sinus pus in patients with odontogenic maxillary sinusitis. The co-detected subspecies-strains with high relative abundance in maxillary sinus pus included Fusobacterium nucleatum subsp. nucleatum and Porphyromonas endodontalis, thus providing strain-level microbiological evidence for infection source tracing in OMS.