Objective:To construct a virtual-real interactive system HE-01 for the treatment of microtia based on HoloLens and verify the feasibility of applying HE-01 in ear reconstruction.Methods:Six volunteers (3 males and 3 females, average age: 20.5 years old) and six patients with microtia(3 males and 3 females, average age: 7.6 years old) were recruited from Plastic Surgery Hospital of Chinese Academy of Medical Sciences from August to September 2021. The Mimics Research 21.0 software and 3-matic research software were used to construct a virtual three-dimensional auricle model. Based on HoloLens and occlusal splint navigation marker device, the virtual-real interactive system HE-01 for the treatment of microtia was constructed. The registration accuracy, tracking delay and display effect of different colors (red, green, blue and skin color) of HE-01 were evaluated through repeated experiments of volunteers. The operation process was defined through repeated experiments of patients and the feasibility of applying HE-01 in auricular reconstruction was verified.Results:HE-01 was built successfully and the operation flow was clear. The experiment of six volunteers (12 ears) showed a high registration accuracy (average error rate 2.3%-2.4%, less than 2.7% of the bilateral auricle size difference of normal people), low tracking delay (six volunteers were all less than 0.1 s), and best green and red display effect of virtual auricle guide under different angles (-60°, -30°, 0°, 30°, 60°). Experiments of patients with microtia showed that HE-01 could be applied to auricular reconstruction, and there were no obvious complications in wearing the navigation marker device, which had repeatability and stability.Conclusion:This study has completed the conceptual design of augmented-reality assisted auricular reconstruction based on navigation device, CT data and HoloLens. HE-01 has good registration accuracy, tracking speed and display effect, laying a good foundation for further software development and clinical transformation.

Objective:To investigate the effects of early percutaneous coronary intervention (PCI) on myocardial perfusion and left ventricular function in patients with acute ST-segment elevation myocardial infarction (STEMI) after thrombolysis.Methods:A total of 108 patients with STEMI treated in the Second Hospital of Hebei Medical University from January 2020 to December 2022 were divided into early PCI following thrombolysis group ( n=65) and primary PCI (pPCI) group ( n=43). The general clinical data, and the parameters of routine echocardiography at 1 day after PCI and before discharge were compared between the two groups. Myocardial contrast echocardiography (MCE) was used to evaluate myocardial perfusion at 1 day after PCI and before discharge. Results:There were no significant differences in general clinical data between the early PCI following thrombolysis group and the pPCI group (all P>0.05). The left ventricular ejection fraction (LVEF) in the early PCI following thrombolysis group and pPCI group before discharge was significantly higher than that on the 1st day after PCI(both P<0.05). The difference of LVEF was significant between the early PCI following thrombolysis group and the pPCI group before discharge and 1 day after PCI ( P<0.05). Compared with 1 day after PCI, the global longitudinal strain (LVGLS) of left ventricle increased in early PCI following thrombolysis group and pPCI group before discharge(both P<0.05). The difference of LVGLS between early PCI following thrombolysis group and pPCI group before discharge and 1 day after discharge was statistically significant( P<0.05). There were no significant differences in left ventricular end-diastolic diameter (LVEDD), left ventricular end-diastolic volume (LVEDV), left atrial volume (LAV), ratio of mitral early diastolic velocity to late diastolic velocity (E/A), mean early diastolic velocity of mitral annulus (Em) and E/Em 1 day after PCI and before discharge between early PCI following thrombolysis group and pPCI group (all P>0.05). MCE showed that the MCE score index of early PCI following thrombolysis group and pPCI group before discharge was significantly lower than that of 1 day after PCI(both P<0.001). Compared to the 1 day after PCI, the early PCI following thrombolysis group showed a significant increase in the proportion of normal microvascular perfusion (nMVP) and a decrease in the proportion of delayed microvascular perfusion (dMVP) and microvascular obstruction (MVO) before discharge (all P<0.05). In contrast, the pPCI group demonstrated a significant decrease in the proportion of both nMVP and dMVP before discharge compared to the first day after PCI (all P<0.05). However, the decrease in the proportion of MVO was not statistically significant ( P>0.05). Conclusions:Early PCI following thrombolysis and pPCI can enhance left ventricular systolic function and myocardial perfusion in patients with acute ST-elevation myocardial infarction. Early PCI following thrombolysis may offer additional advantages in improving left ventricular systolic function and myocardial perfusion.

Objective:To construct a virtual-real interactive system HE-01 for the treatment of microtia based on HoloLens and verify the feasibility of applying HE-01 in ear reconstruction.Methods:Six volunteers (3 males and 3 females, average age: 20.5 years old) and six patients with microtia(3 males and 3 females, average age: 7.6 years old) were recruited from Plastic Surgery Hospital of Chinese Academy of Medical Sciences from August to September 2021. The Mimics Research 21.0 software and 3-matic research software were used to construct a virtual three-dimensional auricle model. Based on HoloLens and occlusal splint navigation marker device, the virtual-real interactive system HE-01 for the treatment of microtia was constructed. The registration accuracy, tracking delay and display effect of different colors (red, green, blue and skin color) of HE-01 were evaluated through repeated experiments of volunteers. The operation process was defined through repeated experiments of patients and the feasibility of applying HE-01 in auricular reconstruction was verified.Results:HE-01 was built successfully and the operation flow was clear. The experiment of six volunteers (12 ears) showed a high registration accuracy (average error rate 2.3%-2.4%, less than 2.7% of the bilateral auricle size difference of normal people), low tracking delay (six volunteers were all less than 0.1 s), and best green and red display effect of virtual auricle guide under different angles (-60°, -30°, 0°, 30°, 60°). Experiments of patients with microtia showed that HE-01 could be applied to auricular reconstruction, and there were no obvious complications in wearing the navigation marker device, which had repeatability and stability.Conclusion:This study has completed the conceptual design of augmented-reality assisted auricular reconstruction based on navigation device, CT data and HoloLens. HE-01 has good registration accuracy, tracking speed and display effect, laying a good foundation for further software development and clinical transformation.

The clinical data, diagnosis and treatment of a child with Robinow syndrome (RS) caused by the DVL1 gene mutation, who was treated in the Department of Endocrinology, Genetics and Metabolism, Children′s Hospital of Nanjing Medical University in May 2023, were retrospectively analyzed.The male child, 2 years old, presented with 2 years of external genital abnormality.The main clinical features included intrauterine growth retardation, external genital abnormalities, craniofacial anomalies, skeletal malformations and congenital heart diseases.Whole exome sequencing revealed that the patient carried a heterozygous mutation c. 1529delG(p.G510Vfs*139) in exon 14 of the DVL1 gene.Cases of the DVL1 gene mutation have not been documented in Chinese.A review of literature identified 25 (including the case in this report) cases of RS in children attributed to DVL1 gene mutations, revealing common clinical features such as craniofacial anomalies, skeletal malformations, external genital abnormalities, heart diseases, short stature, and hearing impairments.Cognitive abilities are typically unaffected, and reproductive function remains normal.Notably, 19 identified DVL1 gene mutations are clustered within a specific genomic region (c.1496-c.1631), with no discernible genotype-phenotype correlation observed.

Background: Acute respiratory distress syndrome induced by acute lung injury (ALI) is the main cause for the high mortality of corona-virus disease 2019 (COVID-19). Huashi Baidu formula (HSBD) with the effects of eliminating dampness, clearing heat, ventilating lung, and removing toxin has been proven to be effective in the treatment of COVID-19, especially in severe cases. However, the underlying mechanism and target proteins of HSBD remain unclear. Objective: To provide evidence and decipher the mechanism of HSBD in alleviating inflammation and ALI. Materials and methods: A mouse model of ALI was induced by lipopolysaccharide (LPS), and hematoxylin-eosin staining was used to examine the protective effects of HSBD on the model mice. The cellular thermal shift assay and proteomics analysis were used to predict the target proteins. Furthermore, the A549 cells with peroxiredoxin 5 (PRDX5) knockdown were established to validate the predicted proteins. Results: Huashi Baidu formula treatment mitigated ALI and inflammatory cytokine dysfunction in LPS-induced mice, thus exerting a therapeutic effect on COVID-19. Huashi Baidu formula could serve as a therapeutic agent to alleviate inflammation and lung injury via nuclear factor k B and phosphatidylinositol 3-kinase signaling and interleukin 17 inhibition as well as targeting PRDX5, which could be one of the promising targets for treating inflammation. In the A549 cell line with PRDX5 knockdown (si-PRDX5), the anti-inflammation effects of HSBD, including reversing LPS-induced increase in the nitric oxide level and reduction in the hydrogen peroxide content, were attenuated. Thus, HSBD protected A549 cells from LPS-induced inflammation mainly by targeting PRDX5. Conclusions: Huashi Baidu formula alleviates ALI by targeting nuclear factor κB/phosphatidylinositol 3-kinase and PRDX5, as well as inhibiting the immune response induced by IL-17.

Objective:To construct a system HE-01 for the treatment of microtia based on HoloLens and verify the feasibility the application of HE-01 in ear reconstruction.Methods:Six volunteers and six patients with microtia were recruited from Plastic Surgery Hospital of Chinese Academy of Medical Sciences from August to September 2021. Mimics Research and 3-matic research software were used to construct a virtual three-dimensional auricle model. Based on HoloLens and occlusal splint navigation marker device, the virtual-real interactive system HE-01 for the treatment of microtia was constructed. The registration accuracy, tracking delay and display effect of HE-01 were evaluated through repeated experiments of volunteers. The operation process was defined through repeated experiments of patients and the feasibility of applying HE-01 in auricular reconstruction was verified.Results:HE-01 was built successfully and the operation flow was clear. The experiment of volunteers showed that under different angles, the registration accuracy was high (less than 2.7% of the bilateral auricle size difference of normal people), the tracking delay was low (less than 0.1s), and the green and red display effect of virtual auricle guide was the best. Experiments of patients with microtia showed that HE-01 could be applied to auricular reconstruction, and there were no obvious complications in wearing the navigation marker device, which had repeatability and stability.Conclusion:This study has completed the conceptual design of augmented-reality assisted auricular reconstruction based on navigation device, CT data and HoloLens. HE-01 has good registration accuracy, tracking speed and display effect, laying a good foundation for further software development and clinical transformation.

The clinical data, diagnose and treatment of a child with familial glucocorticoid deficiency (FGD) caused by the NNT gene mutation who was treated in the Department of Endocrinology, Children′s Hospital Affiliated to Nanjing Medical University in November 2014 were retrospectively analyzed.The female child with 1 year and 5 months old presented with 6 months of skin pigmentation.Laboratory examinations showed decreased cortisol and increased adrenocorticotropic hormone.During the follow-up period, she developed convulsions and precocious puberty.Whole exome sequencing revealed that the patient carried a homozygous mutation c. 1054G > A (p.G352R) in exon 8 of the NNT gene, which was a newly reported gene mutation.Domestic cases of FGD caused by the NNT gene mutation has never been reported yet.Through literature review of a total of 40 reported children with FGD caused by the NNT gene mutation, typical manifestations included skin pigmentation, hypoglycemia and seizures, alongside mineralocorticoid deficiency, precious puberty, abnormal male gonadal development, thyroid diseases and heart diseases.

Objective:To construct a system HE-01 for the treatment of microtia based on HoloLens and verify the feasibility the application of HE-01 in ear reconstruction.Methods:Six volunteers and six patients with microtia were recruited from Plastic Surgery Hospital of Chinese Academy of Medical Sciences from August to September 2021. Mimics Research and 3-matic research software were used to construct a virtual three-dimensional auricle model. Based on HoloLens and occlusal splint navigation marker device, the virtual-real interactive system HE-01 for the treatment of microtia was constructed. The registration accuracy, tracking delay and display effect of HE-01 were evaluated through repeated experiments of volunteers. The operation process was defined through repeated experiments of patients and the feasibility of applying HE-01 in auricular reconstruction was verified.Results:HE-01 was built successfully and the operation flow was clear. The experiment of volunteers showed that under different angles, the registration accuracy was high (less than 2.7% of the bilateral auricle size difference of normal people), the tracking delay was low (less than 0.1s), and the green and red display effect of virtual auricle guide was the best. Experiments of patients with microtia showed that HE-01 could be applied to auricular reconstruction, and there were no obvious complications in wearing the navigation marker device, which had repeatability and stability.Conclusion:This study has completed the conceptual design of augmented-reality assisted auricular reconstruction based on navigation device, CT data and HoloLens. HE-01 has good registration accuracy, tracking speed and display effect, laying a good foundation for further software development and clinical transformation.

Graves disease(GD) is the most common cause of hyperthyroidism in children.GD is an autoimmune thyroid disease which is based on genetic susceptibility and exacerbated by environmental factors including infection, toxin, drugs and stress.Antithyroid drugs(ATD) are the first-line treatment for GD in children.However, many children relapsed after discontinuing ATD, and the relapse rate between different children varied.Till now, exact cause has not been clarified.Previous studies prove that sex, age, micro-element, goiter size, thyroid hormone level, TRAb level, duration of ATD treatment and genetics may affect prognosis of pediatric GD.Yet predictors precious studies identified were variable.