In recent years, surgical research has entered the digital era, and the dissemination of medical knowledge has also begun to confront the challenge posed by we media. When we media first emerged, most doctors in public hospitals, who focused on "medicine, education, and research", held a reserved attitude towards it. However, we media has demonstrated remarkable resilience and has continuously evolved to align with the trend of social development. Faced with the future development direction and the existing sore points, how surgeons comprehend and respond to the surging current of the times is a conundrum before us. In this article, the author has sorted out the rise and development of we media, the status of its application in the medical field, and the predicaments faced by medical we media, and has looked forward to its development to broaden the thinking of surgeons for more comprehensive innovation and development.

OBJECTIVE: To investigate the clinical characteristics and genetic etiology of a primary familial brain calcification (PFBC) family, and analyze the pathogenic mechanism of MYORG gene variants. METHODS: A 17-year-old female who presented to the Second Affiliated Hospital of Zhejiang University School of Medicine on 13 May 2024 with "paroxysmal limb twitching for 1 day" was enrolled. The patient and her parents underwent clinical evaluation and neuroimaging. Peripheral blood samples were collected for whole exome sequencing (WES). Candidate variants were confirmed by Sanger sequencing and interpreted using the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants (hereinafter referred to as the ACMG Guidelines). This study was approved by Medical Ethics Committee of the Second Affiliated Hospital of Zhejiang University School of Medicine (Ethics No. 2020-674). RESULTS: The patient experienced epileptic seizures. Cranial CT revealed multiple calcifications in the bilateral basal ganglia and cerebellum, with a total calcification score of 23. WES identified compound heterozygous variants in MYORG: c.337_348dup (p.Leu113_Arg116dup), a known pathogenic variant, and c.1268T>G (p.Val423Gly). Segregation analysis showed that the father carried the c.337_348dup heterozygous variant, whereas the mother carried the c.1268T>G heterozygous variant. According to ACMG guidelines, the c.1268T>G variant was classified as "likely pathogenic" (PM2_Supporting + PM3_Supporting + PP1_Supporting + PP3_Moderate + PP4_Supporting). CONCLUSION The novel compound heterozygous MYORG variants c.337_348dup and c.1268T>G have broadened the mutational spectrum of the MYORG gene and further supported compound heterozygosity as an important genetic mechanism in MYORG-related PFBC.
Adolescent ; Female ; Humans ; Brain Diseases/genetics* ; Calcinosis/genetics* ; Exome Sequencing ; GPI-Linked Proteins/genetics* ; Mutation ; Pedigree ; Glycoside Hydrolases

Iron deficiency and anemia are common and are associated with poor prognosis in patients with heart failure.Previous studies have found that oral iron supplementation cannot improve quality of life and activity tolerance in patients with heart failure.In recent years,a large number of studies have demonstrated that sodium-glucose cotransporter 2 inhibitor(SGLT2i)can improve the prognosis of patients with heart failure.Researchers have found that they can stimulate erythropoietin secretion,inhibit sympathetic overactivation,inhibit inflammatory response,improve iron absorption and utilization,and inhibit ferroptosis.This article summerizes the effect of SGLT2i on iron metabolism in patients with heart failure,so as to explore possible ways to improve iron deficiency and anemia in patients with heart failure.

Objective:To investigate the clinical characteristics and genetic etiology of a primary familial brain calcification (PFBC) family, and analyze the pathogenic mechanism of MYORG gene variants. Methods:A 17-year-old female who presented to the Second Affiliated Hospital of Zhejiang University School of Medicine on 13 May 2024 with " paroxysmal limb twitching for 1 day" was enrolled. The patient and her parents underwent clinical evaluation and neuroimaging. Peripheral blood was collected for whole exome sequencing (WES). Candidate variants were confirmed by Sanger sequencing and interpreted using the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants (hereinafter referred to as the ACMG Guidelines). This study was approved by Medical Ethics Committee of the Second Affiliated Hospital of Zhejiang University School of Medicine (Ethics No. 2020-674). Results:① The patient experienced epileptic seizures. Cranial CT revealed multiple calcifications in the bilateral basal ganglia and cerebellum, with a total calcification score of 23. ② WES identified compound heterozygous variants in MYORG: c. 337_348dup (p.Leu113_Arg116dup), a known pathogenic variant, and c. 1268T>G (p.Val423Gly). Segregation analysis showed that the father carried the c. 337_348dup heterozygous variant, whereas the mother carried the c. 1268T>G heterozygous variant. ③ According to ACMG guidelines, the c. 1268T>G variant was classified as "likely pathogenic" (PM2_Supporting + PM3_Supporting + PP1_Supporting + PP3_Moderate + PP4_Supporting). Conclusion:The novel compound heterozygous MYORG variants c. 337_348dup and c.1268T>G have broadened the mutational spectrum of the MYORG gene and further supported compound heterozygosity as an important genetic mechanism in MYORG-related PFBC.

OBJECTIVE To explore the value of microbiological rapid on-site evaluation(M-ROSE)technique in treatment of the patients with severe community-acquired pneumonia(SCAP).METHODS A total of 124 patients with SCAP who were treated in the department of respiratory and critical care medicine of The Fourth Medical Center of Chinese PLA General Hospital from Sep.2023 to Dec.2024 were enrolled in the study and were random-ly divided into the M-ROSE group and the control group in a 1∶1 ratio based on the status of M-ROSE for bron-choalveolar lavage fluid(BALF).The M-ROSE test and conventional etiological test[metagenomic next genera-tion sequencing(mNGS),smear,culture]were performed for the M-ROSE group,and the conventional etiologi-cal test was only carried out for the control group.The baseline data,symptoms and signs,C-reactive protein lev-el,treatment status and outcomes were observed and compared between the two groups of patients.RESULTS A-mong the 62 patients for whom the BALF specimens were detected with M-ROSE,45(72.58％)patients showed the consistent test result for fungi with mNGS,47(75.81％)patients showed the same test result for cocci with mNGS,and 30(48.39％)patients showed the same test result for bacilli with mNGS.The duration of the M-ROSE test was 1.50(1.50,2.00)h,shorter than that of the smear,culture and mNGS(P＜0.05).The body temperature returning to the normal and the property,volume of sputum were improved more early in days in the M-ROSE group than in the control group after the anti-infection treatment(P＜0.05);the level of inflammatory factor CRP declined more quickly in the M-ROSE group than in the control group(P＜0.05);the effective rates of treatment of the M-ROSE group were higher than those of the control group after the hospitalization for 3,5 and 7 days(P＜0.05).CONCLUSION The M-ROSE test for BALF may facilitate the rapid etiological diagnosis for the patients with SCAP in early stage,provide guidance for the anti-infection treatment strategies,and accelerate the improvement of symptoms and inflammatory factors;it has certain clinical application value.

Iron deficiency and anemia are common and are associated with poor prognosis in patients with heart failure.Previous studies have found that oral iron supplementation cannot improve quality of life and activity tolerance in patients with heart failure.In recent years,a large number of studies have demonstrated that sodium-glucose cotransporter 2 inhibitor(SGLT2i)can improve the prognosis of patients with heart failure.Researchers have found that they can stimulate erythropoietin secretion,inhibit sympathetic overactivation,inhibit inflammatory response,improve iron absorption and utilization,and inhibit ferroptosis.This article summerizes the effect of SGLT2i on iron metabolism in patients with heart failure,so as to explore possible ways to improve iron deficiency and anemia in patients with heart failure.

OBJECTIVE To explore the value of microbiological rapid on-site evaluation(M-ROSE)technique in treatment of the patients with severe community-acquired pneumonia(SCAP).METHODS A total of 124 patients with SCAP who were treated in the department of respiratory and critical care medicine of The Fourth Medical Center of Chinese PLA General Hospital from Sep.2023 to Dec.2024 were enrolled in the study and were random-ly divided into the M-ROSE group and the control group in a 1∶1 ratio based on the status of M-ROSE for bron-choalveolar lavage fluid(BALF).The M-ROSE test and conventional etiological test[metagenomic next genera-tion sequencing(mNGS),smear,culture]were performed for the M-ROSE group,and the conventional etiologi-cal test was only carried out for the control group.The baseline data,symptoms and signs,C-reactive protein lev-el,treatment status and outcomes were observed and compared between the two groups of patients.RESULTS A-mong the 62 patients for whom the BALF specimens were detected with M-ROSE,45(72.58％)patients showed the consistent test result for fungi with mNGS,47(75.81％)patients showed the same test result for cocci with mNGS,and 30(48.39％)patients showed the same test result for bacilli with mNGS.The duration of the M-ROSE test was 1.50(1.50,2.00)h,shorter than that of the smear,culture and mNGS(P＜0.05).The body temperature returning to the normal and the property,volume of sputum were improved more early in days in the M-ROSE group than in the control group after the anti-infection treatment(P＜0.05);the level of inflammatory factor CRP declined more quickly in the M-ROSE group than in the control group(P＜0.05);the effective rates of treatment of the M-ROSE group were higher than those of the control group after the hospitalization for 3,5 and 7 days(P＜0.05).CONCLUSION The M-ROSE test for BALF may facilitate the rapid etiological diagnosis for the patients with SCAP in early stage,provide guidance for the anti-infection treatment strategies,and accelerate the improvement of symptoms and inflammatory factors;it has certain clinical application value.

In recent years, surgical research has entered the digital era, and the dissemination of medical knowledge has also begun to confront the challenge posed by we media. When we media first emerged, most doctors in public hospitals, who focused on "medicine, education, and research", held a reserved attitude towards it. However, we media has demonstrated remarkable resilience and has continuously evolved to align with the trend of social development. Faced with the future development direction and the existing sore points, how surgeons comprehend and respond to the surging current of the times is a conundrum before us. In this article, the author has sorted out the rise and development of we media, the status of its application in the medical field, and the predicaments faced by medical we media, and has looked forward to its development to broaden the thinking of surgeons for more comprehensive innovation and development.

Objective:To investigate the clinical characteristics and genetic etiology of a primary familial brain calcification (PFBC) family, and analyze the pathogenic mechanism of MYORG gene variants. Methods:A 17-year-old female who presented to the Second Affiliated Hospital of Zhejiang University School of Medicine on 13 May 2024 with " paroxysmal limb twitching for 1 day" was enrolled. The patient and her parents underwent clinical evaluation and neuroimaging. Peripheral blood was collected for whole exome sequencing (WES). Candidate variants were confirmed by Sanger sequencing and interpreted using the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants (hereinafter referred to as the ACMG Guidelines). This study was approved by Medical Ethics Committee of the Second Affiliated Hospital of Zhejiang University School of Medicine (Ethics No. 2020-674). Results:① The patient experienced epileptic seizures. Cranial CT revealed multiple calcifications in the bilateral basal ganglia and cerebellum, with a total calcification score of 23. ② WES identified compound heterozygous variants in MYORG: c. 337_348dup (p.Leu113_Arg116dup), a known pathogenic variant, and c. 1268T>G (p.Val423Gly). Segregation analysis showed that the father carried the c. 337_348dup heterozygous variant, whereas the mother carried the c. 1268T>G heterozygous variant. ③ According to ACMG guidelines, the c. 1268T>G variant was classified as "likely pathogenic" (PM2_Supporting + PM3_Supporting + PP1_Supporting + PP3_Moderate + PP4_Supporting). Conclusion:The novel compound heterozygous MYORG variants c. 337_348dup and c.1268T>G have broadened the mutational spectrum of the MYORG gene and further supported compound heterozygosity as an important genetic mechanism in MYORG-related PFBC.

Purpose: This study aims to explore whether neoadjuvant chemotherapy with immunotherapy (NACI) leads to different tumor shrinkage patterns, based on magnetic resonance imaging (MRI), compared to neoadjuvant chemotherapy (NAC) alone in patients with triple-negative breast cancer (TNBC). Additionally, the study investigates the relationship between tumor shrinkage patterns and treatment efficacy was investigated. Methods: This retrospective study included patients with TNBC patients receiving NAC or NACI from January 2019 until July 2021 at our center. Pre- and post-treatment MRI results were obtained for each patient, and tumor shrinkage patterns were classified into three categories as follows: 1) concentric shrinkage (CS); 2) diffuse decrease; and 3) no change.Tumor shrinkage patterns were compared between the NAC and NACI groups, and the relevance of the patterns to treatment efficacy was assessed. Results: Of the 99 patients, 65 received NAC and 34 received NACI. The CS pattern was observed in 53% and 20% of patients in the NAC and NACI groups, respectively. Diffuse decrease pattern was observed in 36% and 68% of patients in the NAC and NACI groups. The association between the treatment regimens (NAC and NACI) and tumor shrinkage patterns was statistically significant (p = 0.004). The postoperative pathological complete response (pCR) rate was 45% and 82% in the NAC and NACI groups (p < 0.001), respectively. In the NACI group, 17% of patients with the CS pattern and 56% of those with the diffuse decrease pattern achieved pCR (p = 0.903). All tumor shrinkage patterns were associated with achieved a high pCR rate in the NACI group. Conclusion Our study demonstrates that the diffuse decrease pattern of tumor shrinkage is more common following NACI than that following NAC. Furthermore, our findings suggest that all tumor shrinkage patterns are associated with a high pCR rate in patients with TNBC treated with NACI.