Purpose: This study aimed to investigate the molecular characteristics associated with better prognosis in breast cancer. Methods: We performed targeted sequencing of 962 genes in 56 samples, categorizing them into long-term and short-term survival groups as well as chemotherapy-sensitive and chemotherapy-resistant groups for further analyses. Results: The results indicated that the tumor mutational burden values were significantly higher in the short-term survival and chemotherapy-resistant groups (p = 0.008 and p = 0.003, respectively). Somatic mutation analysis revealed that the mutation frequencies of BCL9L and WHSC1 were significantly lower in the long-term survival group than those in the short-term survival group (p = 0.029 and p = 0.024, respectively). CREB-regulated transcription coactivator 1 (CRTC1) mutations occurred significantly more frequently in the chemotherapy-resistant group (p = 0.027) and were associated with shorter progression-free survival (p = 0.036).Signature weighting analysis showed a significant increase in Signature.3, which is associated with homologous recombination repair deficiency in the chemotherapy-sensitive group (p = 0.045). Conversely, signatures related to effective DNA repair mechanisms, Signature.1 and Signature.15, were significantly reduced (p = 0.002 and p < 0.001, respectively). Kyoto Encyclopedia of Genes and Genomes pathway analysis indicated that gene mutations were significantly enriched in the JAK-STAT signaling pathway. Conclusion This study, through intergroup comparative analysis, found that immunotherapy (using programmed death 1/programmed death-ligand 1 inhibitors) may improve the prognosis of patients with short survival and chemotherapy resistance. Additionally, the study revealed that mutations in BCL9L and WHSC1 could serve as biomarkers for breast cancer prognosis, while CRTC1 mutations and Signature.3 could predict chemotherapy response. The study also found that the JAK-STAT pathway might be a potential therapeutic target for chemotherapy resistance. Therefore, this study identifies molecular characteristics that influence the prognosis of breast cancer patients, providing important theoretical insights for the development of personalized treatment strategies.

Purpose: This study aimed to investigate the molecular characteristics associated with better prognosis in breast cancer. Methods: We performed targeted sequencing of 962 genes in 56 samples, categorizing them into long-term and short-term survival groups as well as chemotherapy-sensitive and chemotherapy-resistant groups for further analyses. Results: The results indicated that the tumor mutational burden values were significantly higher in the short-term survival and chemotherapy-resistant groups (p = 0.008 and p = 0.003, respectively). Somatic mutation analysis revealed that the mutation frequencies of BCL9L and WHSC1 were significantly lower in the long-term survival group than those in the short-term survival group (p = 0.029 and p = 0.024, respectively). CREB-regulated transcription coactivator 1 (CRTC1) mutations occurred significantly more frequently in the chemotherapy-resistant group (p = 0.027) and were associated with shorter progression-free survival (p = 0.036).Signature weighting analysis showed a significant increase in Signature.3, which is associated with homologous recombination repair deficiency in the chemotherapy-sensitive group (p = 0.045). Conversely, signatures related to effective DNA repair mechanisms, Signature.1 and Signature.15, were significantly reduced (p = 0.002 and p < 0.001, respectively). Kyoto Encyclopedia of Genes and Genomes pathway analysis indicated that gene mutations were significantly enriched in the JAK-STAT signaling pathway. Conclusion This study, through intergroup comparative analysis, found that immunotherapy (using programmed death 1/programmed death-ligand 1 inhibitors) may improve the prognosis of patients with short survival and chemotherapy resistance. Additionally, the study revealed that mutations in BCL9L and WHSC1 could serve as biomarkers for breast cancer prognosis, while CRTC1 mutations and Signature.3 could predict chemotherapy response. The study also found that the JAK-STAT pathway might be a potential therapeutic target for chemotherapy resistance. Therefore, this study identifies molecular characteristics that influence the prognosis of breast cancer patients, providing important theoretical insights for the development of personalized treatment strategies.

Purpose: This study aimed to investigate the molecular characteristics associated with better prognosis in breast cancer. Methods: We performed targeted sequencing of 962 genes in 56 samples, categorizing them into long-term and short-term survival groups as well as chemotherapy-sensitive and chemotherapy-resistant groups for further analyses. Results: The results indicated that the tumor mutational burden values were significantly higher in the short-term survival and chemotherapy-resistant groups (p = 0.008 and p = 0.003, respectively). Somatic mutation analysis revealed that the mutation frequencies of BCL9L and WHSC1 were significantly lower in the long-term survival group than those in the short-term survival group (p = 0.029 and p = 0.024, respectively). CREB-regulated transcription coactivator 1 (CRTC1) mutations occurred significantly more frequently in the chemotherapy-resistant group (p = 0.027) and were associated with shorter progression-free survival (p = 0.036).Signature weighting analysis showed a significant increase in Signature.3, which is associated with homologous recombination repair deficiency in the chemotherapy-sensitive group (p = 0.045). Conversely, signatures related to effective DNA repair mechanisms, Signature.1 and Signature.15, were significantly reduced (p = 0.002 and p < 0.001, respectively). Kyoto Encyclopedia of Genes and Genomes pathway analysis indicated that gene mutations were significantly enriched in the JAK-STAT signaling pathway. Conclusion This study, through intergroup comparative analysis, found that immunotherapy (using programmed death 1/programmed death-ligand 1 inhibitors) may improve the prognosis of patients with short survival and chemotherapy resistance. Additionally, the study revealed that mutations in BCL9L and WHSC1 could serve as biomarkers for breast cancer prognosis, while CRTC1 mutations and Signature.3 could predict chemotherapy response. The study also found that the JAK-STAT pathway might be a potential therapeutic target for chemotherapy resistance. Therefore, this study identifies molecular characteristics that influence the prognosis of breast cancer patients, providing important theoretical insights for the development of personalized treatment strategies.

Objective To compare the stability of different Kirschner wire configurations for treating SH-Ⅱ type epiphyseal injury and damage to the epiphyseal plate in children.Methods The CT scanning data of a healthy femur from an eight-year-old child were collected;the image data were imported into Mimics 21.0 to establish a rough femoral and epiphyseal model,which was then imported into Geomagic 2013 to construct a surface model.The surface model was assembled in SolidWorks 2018 with three configurations(dispersed,double-crossed,and single-crossed K-wires)and then imported into ANSYS Workbench 2019.Various motion modes in reality were simulated through different mechanical loadings on the assembly.The maximum displacement of the fracture fragment,von Mises stress distribution,and maximum stress on the K-wire,epiphyseal plate,and fracture fragment were analyzed.Results The maximum displacements of the dispersed,double-crossed,and single-crossed K-wire groups occurred during abduction(2.39 mm),adduction(2.12 mm),and abduction(2.21 mm),and the maximum stress on the epiphyseal plate occurred during abduction(1.22 MPa),anterior flexion(0.20 MPa),and posterior extension(0.29 MPa),respectively.Conclusions The stability of the double-crossed K-wire configuration is superior to that of the dispersed and single-crossed K-wire configurations,with minimal damage to the epiphysis.

Supracondylar humerus fractures represent the most prevalent type of upper limb fractures in pediatric patients. As a result of the interplay of external forces, muscular contractions, and periosteal reactions, these fractures are prone not only to axial displacement but also to rotational displacement in a certain degree. Rapid and accurate assessment of the rotational displacement holds a paramount importance for intraoperative realignment, choice of fixation modalities, and anticipation of postoperative function. Currently, methods to evaluate the rotational displacement involve X-ray, CT, and ultrasound, but the various assessment techniques and criteria often pose challenges in differentiation. This paper reviews the current diverse imaging modalities for assessment of the rotational displacement, aiming to translate the intricate three-dimensional spatial rotation into single-plane rotations within the coronal, sagittal, and horizontal planes, thereby aspiring to furnish those concerned with clinical guidance.

Objective To compare biomechanical characteristics of external fixator, Kirschner’s wire, elastic stable intramedullary nailing (ESIN) for fixing proximal humeral fractures in children by finite element method.Methods The CT scanning data from the healthy humerus of an 8-year-old patient with proximal humeralfractures were collected, and the image data were imported in Mimics 21. 0 to establish the rough humeralmodel, which was imported in Geomagic 2013 to construct the three-dimensional (3D) model of cancellous and cortical bones of the humerus. After the model was assembled with 3 fixators ( external fixator, Kirschner’swire, ESIN), it was imported in ANSYS 2019 to simulate the upper limb under quiet, abduction, adduction, flexion, extension, external rotation, internal rotation working conditions. The maximum displacement of the distal humerus, the maximum stress of the fixture, and the maximum displacement of the distal fracture surface were analyzed. Results The minimum values of the maximum displacement of the distal humerus in models fixed by external fixator, Kirschner’s wire, ESIN appeared under extension (2. 406 mm), external rotation (0. 203 mm), external rotation (0. 185 mm) working conditions, respectively. Conclusions External fixator is the most unstable fixation of proximal humeral fractures in children, and the biomechanical performance of ESIN is better than that of external fixator and Kirschner’s wire fixation

Objective: To investigate the status of nutrition and dietary behaviors and their associations in school age children in poor areas of western China, to provide clues for sustainable improvement strategies of malnutrition among primary school students in rural revitalization. Methods: A total of 1 887 school age students from 3 poverty stricken counties in Shaanxi and Sichuan provinces were investigated by physical examination and questionnaire survey during October to December in 2020. Mixed effects model was used to analyze associations between nutritional status and dietary behaviors. Results: The prevalence of stunting, wasting, overweight and obesity, and central obesity among 1 887 students were 1.8%, 6.6%, 27.7%, 24.5%, respectively, and the differences between two provinces were statistically significant ( χ 2=94.76, 46.05, 109.96, 80.50, P <0.05). The prevalence of overweight and obesity of students in Shaanxi and Sichuan were 32.8% and 4.9%, respectively. The prevalence of stunting and wasting were 0.4% and 4.7% in Shaanxi, and 8.1% and 14.7% in Sichuan, respectively. Among 1 160 students with complete dietary data, the proportions of students who ate breakfast, eggs, and milk daily were low, and eating breakfast daily was negatively associated with overweight and obesity( OR =0.26, P <0.05), and eating out and eating in canteen were positively associated with wasting( OR = 2.51, 2.82, P <0.05). Conclusion School age children in poor areas of western China are facing double burden of malnutrition, and there are significant regional differences. Future targeted interventions should be made to improve these students nutritional status.

Spinocerebellar ataxias (SCAs), formerly known as autosomal dominant cerebellar ataxia, are a group of hereditary heterogeneous neurodegenerative disease that contains many subtypes. Spinocerebellar ataxia type 23 (SCA23), one type of SCAs, is caused by mutant prodynorphin (PDYN) gene. A 22-year-old patient was diagnosed with sporadic SCA23 due to gene detection, with a novel identified mutation, PDYN c.647C>T (p.P216L). Located in the dynorphin A-coding-region of PDYN gene, the pathogenic mechanism of the mutation may be relevant to the pathological changes caused by the variant including neurological dysfunction and death of cells. Mild improvement with the patient has been witnessed after active balance and speaking exercise.

Bow hunter′s syndrome, also known as vertebral basilar artery insufficiency, is a rare disease characterized by post?circulation blood supply insufficiency caused by mechanical or stenosis of the vertebral artery when the head and neck rotate or over?extend. To date, few cases regarding the bilateral hunter′s bow syndrome concurrent with epilepsy have been reported. A 29?year?old man was admitted to the First Hospital of Jilin University due to seizures. Results from transcranial Doppler ultrasound and carotid ultrasound showed that the patient had bilateral hunter′s bow syndrome. Further imaging examination showed that the syndrome was caused by congenital bone fusion which resulted in mechanical occlusion of C1-C2 vertebral artery. This case indicates that seizures are closely related to hunter′s bow syndrome.

Bow hunter′s syndrome, also known as vertebral basilar artery insufficiency, is a rare disease characterized by post-circulation blood supply insufficiency caused by mechanical or stenosis of the vertebral artery when the head and neck rotate or over-extend. To date, few cases regarding the bilateral hunter′s bow syndrome concurrent with epilepsy have been reported. A 29-year-old man was admitted to the First Hospital of Jilin University due to seizures. Results from transcranial Doppler ultrasound and carotid ultrasound showed that the patient had bilateral hunter′s bow syndrome. Further imaging examination showed that the syndrome was caused by congenital bone fusion which resulted in mechanical occlusion of C₁-C₂ vertebral artery. This case indicates that seizures are closely related to hunter′s bow syndrome.