Objective:To investigate the distribution and primary drainage sites of the venous drainage system in the pedicled nasal septal mucosal flap, as well as to examine protective measures for the venous system of the nasal septal mucosal flap and its application in repairing the nasal skull base through the anatomical study of the nasal septum mucosal venous system in cadavers.Methods:Gross anatomy dissections were performed on 13 sides perfused fresh frozen cadaveric head specimens. The nasal septum mucosal flap was separated along the perichondrium and subperiosteum, then passed across the vomer, anterior wall of sphenoid sinus, clivus, and towards the anterior edge of vertical plate of palatine bone. Detailed documentation, including photographs, was made to record the morphology, distribution and drainage location of veins of the nasal septum mucosal flap and its pedicle, along with number of sphenopalatine veins. Furthermore, venous injuries resulting from obtaining a pedicled nasal septal mucosa flap were observed. From March 2023 to March 2024, a retrospective analysis was conducted on patients with nasopharyngeal lesions who underwent surgical repair using a modified pedicled nasal septum mucosal flap for venous system protection in the ENT institute and Department of Otorhinolaryngology at the Eye & ENT Hospital of Fudan University. The postoperative endoscopy was employed to assess the viability of the mucosal flap.Results:The veins of the nasal septum mucosa were primarily located in the posterior region, including the vomerine region, anterior wall of the sphenoid sinus, clivus region, and posterolateral wall of the nasal cavity, in a reticular pattern. Perforating veins draining into these bony structures could be observed, although their quantity and morphology varied. Notably, no prominent sphenopalatine veins were identified in 10 specimens examined, while 3 specimens exhibited sphenopalatine veins: one with a small single branch and two with venous bundles. Preservation of the nasal septal vein was possible when dissection was limited to the anterior edge of the wing of vomer. A wider range of dissection increased the risk of veinous injury. In cases where only vascular pedicles at the sphenopalatine foramen were preserved, three cadaveric head specimens retained intact sphenopalatine veins, while drainage veins were completely destroyed in ten other specimens. Fifteen patients with unilateral lesions (8 with recurrent nasopharyngeal carcinoma and 7 with nasopharyngeal radionecrosis) were included in this study. The postoperative reconstructions were carried out using contralateral pedicled nasal septal mucosal flaps. The average follow-up time was 7 months (ranging from 3 to 12 months), and all the nasal septal mucosal flaps survived.Conclusions:The primary location of the drainage vein within the nasal septum mucosa is situated in its posterior region, where it penetrates into adjacent bone structures. Very few sphenopalatine veins pass through the sphenopalatine foramen. Extensive dissection of the pedicled nasal septal mucosal flap may potentially impair the venous system and adversely affect flap survival rates, necessitating further clinical exploration.

Objective:To explore the prevalence, clinical features, genetic characteristics and prognosis of Citrin deficiency in Henan province of China.Methods:A total of 986 565 neonates screened by tandem mass spectrometry at the Third Affiliated Hospital of Zhengzhou University from January 2013 to December 2021 were retrospectively analyzed. Analysis of SLC25A13 gene variants and parental verification were carried out for neonates suspected for Citrin deficiency by next-generation sequencing. The clinical, biochemical and genetic characteristics of Citrin deficiency patients were integrated to guide the diet treatment and follow up the growth and development. Paired- t test was used to compare the amino acid levels in the peripheral blood samples before and after the treatment. Results:Nine cases of Citrin deficiency were diagnosed among the 986 565 neonates. Specific elevation of citrulline was observed in all of the 9 cases. Six variants were detected by genetic sequencing, among which c. 852_855delTATG, c. 615+ 5G>A, c. 550C>T and IVS16ins3kb were known pathogenic variants, whilst c. 1111_1112delAT and c. 837T>A were unreported previously. The detection rate for c. 852_855delTATG was the highest (61.6%, 11/18), followed by IVS16ins3kb (16.7%, 3/18). The clinical symptoms of all patients were relieved after the treatment, and the blood amino acid profile and biochemical parameters were significantly improved by gradually falling within the normal range. By June 2022, all patients had shown a good prognosis.Conclusion:The prevalence of Citrin deficiency among neonates from Henan Province by tandem mass spectrometry is 1/109 618, and the carrier rate for the pathogenic variants of the SLC25A13 gene was 1/166. The c. 852_855delTATG may be a hot spot variant among the patients. Discovery of the novel variants has enriched the mutational spectrum of the SLC25A13 gene. Above results have provided a basis for the early diagnosis, treatment, prognosis and genetic counseling for the affected families.

Objectives: . The annual prevalence of chronic rhinosinusitis (CRS) is increasing, and the lack of effective treatments imposes a substantial burden on both patients and society. The formation of nasal polyps in patients with CRS is closely related to tissue remodeling, which is largely driven by the epithelial-mesenchymal transition (EMT). MicroRNA (miRNA) plays a pivotal role in the pathogenesis of numerous diseases through the miRNA-mRNA regulatory network; however, the specific mechanism of the miRNAs involved in the formation of nasal polyps remains unclear. Methods: . The expression of EMT markers and Smad3 were detected using western blots, quantitative real-time polymerase chain reaction, and immunohistochemical and immunofluorescence staining. Differentially expressed genes in nasal polyps and normal tissues were screened through the Gene Expression Omnibus database. To predict the target genes of miR-145-5p, three different miRNA target prediction databases were used. The migratory ability of cells was evaluated using cell migration assay and wound healing assays. Results: . miR-145-5p was associated with the EMT process and was significantly downregulated in nasal polyp tissues. In vitro experiments revealed that the downregulation of miR-145-5p promoted EMT. Conversely, increasing miR-145-5p levels reversed the EMT induced by transforming growth factor-β1. Bioinformatics analysis suggested that miR-145-5p targets Smad3. Subsequent experiments confirmed that miR-145-5p inhibits Smad3 expression. Conclusion . Overall, miR-145-5p is a promising target to inhibit nasal polyp formation, and the findings of this study provide a theoretical basis for nanoparticle-mediated miR-145-5p delivery for the treatment of nasal polyps.

ObjectiveTo investigate the effect of Mashao Pingchuan decoction （MSPC） on lipopolysaccharides （LPS）-induced autophagy in human bronchial airway epithelial cells （16HBE） via the phosphatidylinositol 3-kinase （PI3K）/protein kinase B （Akt）/mammalian target of rapamycin （mTOR） signaling pathway. Method16HBE cells were selected for the study， and cell counting kit-8 （CCK-8） was used to detect the activity of of LPS-induced 16HBE cells and the effect of MSPC-containing serum on the cells. Suitable LPS-induced 16HBE cells were screened by the CCK-8 method， and the content of tumor necrosis factor-α （TNF-α） was measured to identify the established model. And MSPC-containing serum was prepared. The cells were divided into normal group， LPS group， LPS+MSPC group， LY294002+LPS group and LY294002+LPS+MSPC group. Transmission electron microscopy was performed to observe the changes in autophagic vesicles and ultrastructure of the cells. Western blot was performed to detect the protein expressions of PI3K， phosphorylated PI3K （p-PI3K）， Akt， phosphorylated Akt （p-Akt）， mTOR， phosphorylated mTOR （p-mTOR） and microtubule-associated protein 1 light chain 3B （LC3B）， and enzyme-linked immunosorbent assay （ELISA） was used to detect the expressions of inflammatory factors interleukin-5 （IL-5）， IL-6， TNF-α and IL-10 in the five groups. ResultLPS inhibited the 16HBE cells in a dose-dependent manner. Compared with the normal group， the LPS group （150 mg·L^-1 of LPS） increased the expression of pro-inflammatory factor TNF-α after 24 h of treatment （P<0.05） and facilitated the autophagosome formation， and MSPC-containing serum exerted a concentration-dependent promotion effect on the 16HBE cells， inhibited the autophagy to a certain degree and enhanced the cell status. Western blot revealed that the protein expressions of p-PI3K， p-Akt and p-mTOR in the model group were lower （P<0.05） and the protein expression of LC3B was higher （P<0.01） than those in the normal group. Compared with the conditions in the LPS group， the protein expressions of p-PI3K， p-Akt and p-mTOR in the LPS+MSPC group were elevated （P<0.05） and that of LC3B was reduced （P<0.05）. Compared with the LPS+LY294002 group， the LY294002+LPS+MSCP group had up-regulated protein expressions of p-PI3K， p-Akt and p-mTOR （P<0.05） and down-regulated protein expression of LC3B （P<0.05）. ELISA showed that the LPS group had higher levels of IL-5， IL-6， TNF-α and IL-10 than the normal group， while the levels of TNF-α， IL-6 and IL-8 were decreased （P<0.01） and the level of IL-10 was increased （P<0.01） after treatment with MSCP. ConclusionMSCP may lower the LPS-induced autophagy in 16HBE cells and improve the inflammatory response through activating the PI3K/Akt/mTOR signaling pathway.

Objective:To assess the clinical application of bedside X-ray photography assistor (Patent No. 202 023 219 898.1) in neonatal bedside photography.Methods:From April 2021 to February 2022, a total of 180 pediatric patients were selected who underwent bedside chest X-ray photography in neonatal intensive care unit (NICU) of Union Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology. These patients were divided into contrpol group, consisting of 48 males and 42 females aged at (3.3 ± 2.0) d (0-10 d), and experimental group, including 50 males and 40 females aged (3.1±2.2) d (0-12 d). For chest photography, routine workflow was followed in the control group while in experimental group bedside photography protection and body position fixing device was used. The examination time, reshoot rate and image quality were compared between the two groups.Results:The diagnostic physician score and patient comfort score in the experimental group were higher than those in the control group, with statistically significant differences ( t = 3.98, 3.82, P < 0.001). The success rate in the experimental group was higher than that in the control group, with statistically significant difference ( χ2= 7.84, P < 0.05). The average time of examination in the experimental group was not significantly different from in the control group ( P>0.05 ). Conclusions:The application of bedside X-ray photography assistor in neonatal bedside photography can significantly improve the success rate and image quality and reduce the radiation dose to pediatric patients without significantly increased examination time, which is worthy of clinical application and promotion.

Multiple primary malignancies (MPMs) are two or more primary malignancies diagnosed in the same patient at the same time or at a specific time and do not represent progression, recurrence or metastasis of the first tumor.MPMs are extremely rare. In this paper, we reported a case of male patient who was diagnosed with invasive uroepithelial carcinoma, rectal adenocarcinoma, clear cell renal cell carcinoma and sarcomatoid carcinoma of the bladder, and open partial cystectomy, laparoscopic radical operation for rectal cancer, laparoscopic partial left nephrectomy, transurethral resection of bladder tumor and laparoscopic radical cystectomy with ureterostomy were performed, respectively.The patient was followed up for 16 months after the last surgery, with good general condition and no recurrence or metastasis.

Nasopharyngeal carcinoma (NPC) is a common malignant tumor in China. Radiotherapy is the first-line treatment. After appropriate radiotherapy, about 5%-15% patients experience recurrence. In view of the poor efficacy and high incidence of severe late toxicities associated with re-irradiation, salvage surgery by the transnasal endoscopic approach is recommended for recurrent NPC (rNPC). Compared with re-irradiation, endoscopic surgery can better prolong survival, improve the quality of life, and reduce complications and medical expenses of patients with rNPC. However, the complexity of the nasopharyngeal skull base enhances the difficulty and risk of surgery. Expanding the boundary of surgical resection remains a clinical challenge for otolaryngologists. In this regard, to help more advanced patients with rNPC, the surgical innovative system of NPC needs to be established by multi-disciplinary cooperation, involving skull base anatomy-based investigation, appropriate administration of the internal carotid artery (ICA), repair of skull base defect, and establishment of various types of endoscopic endonasal nasopharyngectomy.

Objective:To investigate the feasibility of endoscopic salvage surgery for patients with rT2 recurrent nasopharyngeal carcinoma (rNPC) and to analyze their prognostic factors.Methods:The clinical data of 33 patients with rT2 rNPC who underwent endoscopic extended nasopharyngectomy in Eye & ENT Hospital Affiliated to Fudan University from January 2015 to July 2020 were analyzed, including 29 males (87.9%) and 4 females (12.1%), aging (51.7±10.6) years. The clinicopathological characteristics of these patients were recorded and analyzed, in terms of gender, sex, alcohol and cigarette use, interval between primary treatment to recurrence, adjuvant therapy, lymph node metastasis, internal carotid artery (ICA) invasion, necrosis, margin and reconstruction materials. Kaplan Meier analysis was used to plot the overall survival rate and progression free survival rate curve, Log-rank test was used to analyze the prognostic factors among patients, and multivariate Cox proportional hazards regression was used to determine the independent risk factors of tumor progression free survival.Results:Among 33 patients with rT2 rNPC, the recurrence interval of 24 patients with rNPC after primary radiotherapy was more than 2 years. A total of 25 patients received primary radiotherapy and adjuvant chemotherapy at the same time. There were 6 cases with cervical lymph node metastasis, 12 cases with ICA invasion, 8 cases with positive surgical margin, 7 cases underwent ICA embolization before operation. A total of 18 cases underwent pedicled tissue flap repairment after operation, including 12 pedicled nasal septal mucosa flaps and 6 temporalis muscle flaps. The median follow-up time was 15 months. Five patients died because of disease progression (in 2 cases), post surgical ICA hemorrhage (in 1 case), liver metastasis (in 1 case) and dysphagia (in 1 case). The 1-year, 2-year and 3-year overall survival rates of all patients were 93.9%, 81.8% and 81.8%, respectively. The 1-year, 2-year and 3-year progression free survival rates were 74.7%, 59.7% and 40.9%, respectively. Log-rank statistical analysis showed that the positive surgical margin ( P=0.060) and recurrence interval ( P=0.151) were possibly related to the prognosis of rT2 rNPC. Multivariate Cox regression analysis showed that the positive surgical margin was an independent risk factor for patients with rT2 rNPC ( P=0.034). Nasopharynx hemorrhage occurred in 4 patients, skull base bone necrosis occurred in 2 patients, trismus occurred in 3 patients, and no obvious brain complications occurred in 7 patients with ICA embolization. Conclusion:Endoscopic salvage surgery for rT2 rNPC is a safe and effective surgical option, but the long-term effect still needs long-term follow-up in bulk cases.

Objective:To explore the genetic basis for a child featuring tetrahydrobiopterin deficiency and global developmental delay.Methods:Clinical and laboratory examinations were carried out for the child. Genomic DNA of the patient was subjected to high-throughput sequencing to identify genetic variants associated with hyperphenylalaninemia. Candidate variants were verified by Sanger sequencing.Results:The result of blood tandem mass spectrometry showed that the Phenylalanine in the blood was 642.7 μmol/l, and the ratio of Phenylalanine/Tyrosine was 5.42. Analysis of urinary pterin: neopterin 0.09 mmol/mol Cr, biopterin 0.04 mmol/mol Cr, biopterin% 77%, which suggested tetrahydrobiopterin deficiency. The parents of the proband were first cousins. DNA sequencing revealed that the proband has harbored homozygous c. 353A>T variants in exon 2 of the GCH1 gene, for which his great grandmother, grandfather, mother, uncle, father and elder brother were heterozygous carriers with normal phenotype and no clinical symptoms associated with dopa responsive dystonia. Conclusion:The homozygous c. 353A>T variant of the GCH1 gene probably underlay the tetrahydrobiopterin deficiency in this pedigree of consanguineous marriage.

Objective:To analyze the clinical reliability of neonatal bedside photography protection and body position fixing device during neonatal bedside X-ray photography.Methods:A mobile X-ray diagnostic machine was used to project the phantom of children. The samples were divided into group A with conventional bedside photography mode, and group B using neonatal bedside X-ray photography protection device. X-ray diagnostic level dosimeters were placed at the projection and radiation sensitive sites, respectively. The three parts of the chest, pelvis and skull were used as the projection center, and the radiation dose to the projection site and the radiation sensitive site were collected and recorded, and the statistical analysis was carried out.Results:When the chest was taken as the center of the projection, the radiation doses to the lens of the eye, thyroid and gonad in the body model group B of children were 94.4%, 96.9% and 96.7% lower than those in the non-injected part of group A, respectively ( t=-152.55, -445.16, -129.07, P<0.05). When the pelvis was taken as the projection center, the radiation doses to the lens, thyroid and thymus in the body model group B were 85.5%, 87.1% and 94.9% lower than those in the non-projection part of group A, respectively ( t=-50.68, -194.18, -535.94, P<0.05). When the head was taken as the projection center, the radiation doses to thyroid, thymus and gonad in the body model group B were 99.3 %, 97.4 % and 94.3 % lower than those in the non-projection position of group A, respectively ( t=-1 859.97, -542.08, -66.26, P< 0.05). Conclusions:The use of neonatal bedside photography protection and position fixing device during neonatal bedside X-ray photography can significantly reduce the radiation dose to children in non-projected areas under the premise of ensuring image quality. At the same time, it can fix and protect the children, improve the success rate of examination, being worthy of clinical promotion.