Adenoid cystic carcinoma is a malignant tumor of the head and neck, this article reports a case of a large adenoid cystic carcinoma of the skull base, with the lesion involving the sphenoid sinus, sphenoid bone wings, pterygopalatine fossa, nfratemporal fossa, hard palate, and other structures. The treatment plan consisted of surgical excision, primary reconstrction of the surgical defect,and postoperative radiotherapy, resulting in a favorable prognosis for the patient.
Humans ; Carcinoma, Adenoid Cystic/surgery* ; Maxillary Sinus/surgery* ; Maxillary Sinus Neoplasms/surgery* ; Palate, Hard/surgery* ; Skull Base Neoplasms/surgery* ; Surgical Flaps

Objective:To retrospectively analyze the clinical features and surgical efficacy of congenital cholesteatoma （CC） and acquired cholesteatoma （AC） in children. Methods:Clinical data of 169 children with middle ear cholesteatoma were reviewed in the Department of Otorhinolaryngology Head and Neck Surgery, Beijing Children's Hospital, Capital Medical University from January 2010 to July 2020. The clinical characteristics, stages, surgical methods, and postoperative recurrence rates were analyzed and summarized. Results:The age distribution of enrolled children ranged from 2 to 14 years. The mean age of the CC group was （5.60±2.48） years compared with （6.45±2.48） years in the AC group, and the difference was statistically significant （P<0.05）. Preoperative hearing in the CC group was （40.06±13.52） dB HL, which was better than in the AC group at （48.40±13.84） dB HL （P<0.05）. The proportion of stage Ⅰ in the CC group was lower than that in the AC group according to EAONO/JOS staging （P<0.05）. The recurrence rate after primary surgery was 19.23% （10/52） in the CC group compared with 36.29% （45/124） in the AC group （P<0.05）. The mastoid retention rates after all operations were 28.85% （15/52） in the CC group and 5.65% （7/124） in the AC group （P<0.05）. Conclusion:Compared with congenital cholesteatoma, acquired cholesteatoma in children is more aggressive and has more complications, higher postoperative recurrence rate, and less possibility of mastoid retention. Early clinical detection and treatment are required, and canal wall-down tympanoplasty should be considered in surgery.
Humans ; Cholesteatoma, Middle Ear/congenital* ; Child ; Retrospective Studies ; Child, Preschool ; Adolescent ; Male ; Female ; Recurrence ; Cholesteatoma/congenital* ; Tympanoplasty ; Treatment Outcome

Objective:To investigate long-term auditory changes and characteristics of Alport syndrome（AS） patients with different degrees of renal injury. Methods:Retrospectively analyzing clinical data of patients diagnosed AS from January 2007 to September 2022, including renal pathology, genetic detection and hearing examination. A long-term follow-up focusing on hearing and renal function was conducted. Results:This study included 70 AS patients, of which 33（25 males, 8 females, aged 3.4-27.8 years） were followed up, resulting in a loss rate of 52.9%.The follow-up period ranged from 1.1to 15.8 years, with 16 patients followed-up for over 10 years. During the follow-up, 10 patients presenting with hearing abnormalities at the time of diagnosis of AS had progressive hearing loss, and 3 patients with new hearing abnormalities were followed up, which appeared at 5-6 years of disease course. All of which were sensorineural deafness. While only 3 patients with hearing abnormalities among 13 patients received hearing aid intervention. Of these patients,7 developed end-stage renal disease（ESRD）, predominantly males （6/7）. The rate of long-term hearing loss was significantly different between ESRD group and non-ESRD group（P=0.013）. There was no correlation between the progression of renal disease and long-term hearing level（P>0.05）. kidney biopsies from 28 patients revealed varying degrees of podocyte lesion and uneven thickness of basement membrane. The severity of podocyte lesion was correlated with the rate of long-term hearing loss（P=0.048）, and there was no correlation with the severity of hearing loss（P>0.05）. Among 11 cases, theCOL4A5mutationwas most common （8 out of 11）, but there was no significant correlation between the mutation type and hearing phenotype（P>0.05）. Conclusion:AS patients exhibit progressive hearing loss with significant heterogeneity over the long-term.. THearing loss is more likely to occur 5-6 years into the disease course. Hearing abnormalities are closely related to renal disease status, kidney tissue pathology, and gene mutations, emphasizing the need for vigilant long-term hearing follow-up and early intervention.
Male ; Child ; Female ; Humans ; Nephritis, Hereditary/pathology* ; Retrospective Studies ; Kidney ; Deafness ; Hearing Loss/genetics* ; Kidney Failure, Chronic/pathology* ; Mutation

Objective To investigate the rate of germline variants in patients with pancreatic cancer and clinical characteristics related with germline variants.Methods A total of 271 patients diagnosed with pancreatic cancer were enrolled in this study.Germline variants of 21 tumor susceptibility genes were detected by next-generation sequencing,and the relationship between germline variants and clinical factors such as age of onset,family history and personal history was analyzed.Results The rate of germline P/LP variants was 6.3%in unselected pancreatic cancer patients,but was high as 17.1%in genetic high-risk group patients(those with a family or personal history of cancer,or early-onset).Genes with higher frequency of germline variants in pancreatic cancer patients were PALB2,BRCA2,and ATM.Conclusion The rate of germline variants in overall pancreatic cancer patients is not high,but it increases significantly in genetic high-risk group,proving the importance of clinical factors in the screening of hereditary pancreatic cancer.

Objective To evaluate the value of high-throughput sequencing(HTS)data reanalysis that does not include ERBB2 copy number variation(CNV)analysis,in identifying ERBB2 amplification in patients with colorectal cancer.Methods The HTS data of 252 cases of colorectal cancer diagnosed by pathological biopsy who received peripheral blood cfDNA HTS detection samples were retrospectively analyzed.According to the HTS data of ERBB2 non-amplified samples judged by immunohistochemistry(IHC)and/or fluorescence in situ hybridization(FISH),the number of chromosome 17(Chr17)reads in the total number of reads was calculated the range of the ratio was initially determined as the threshold for prompting ERBB2 amplification.Suspected positive samples were screened according to thresholds and verified by digital PCR,IHC and FISH.Results The proportion of the number of Chr17 reads accounts for the number of total reads in the 89 cases of ERBB2 non-amplified samples determined by IHC and/or FISH ranged from 0.188 to 0.299(0.239±0.192).Using 0.298(1.25 times the mean)as the threshold indicating ERBB2 amplification,the data of 163 samples were analyzed,of which 7 cases were suspected to be positive,and the ratio ranged from 0.302 to 0.853.Among them,5 cases were determined to be positive by IHC and/or FISH,and 6 cases were confirmed to be positive by digital PCR.The ratio of the number of Chr17 reads to the number of total reads was positively correlated with the ratio of ERBB2/EIF2C1,and the correlation was good(r2=0.909).Conclusion The high-throughput sequencing data that does not cover the ERBB2 CNV analysis has a certain hint value for ERBB2 amplification in patients with colorectal cancer.

ObjectiveAlthough expression of the TEAD1 protein in preadipocytes has been established, its function remains unclear. In this study, we sought to detect transcripts of TEAD1 in chicken and to examine the effects of this protein on the proliferation, migration, apoptosis, and differentiation of immortalized chicken preadipocyte cell lines (ICP1). MethodsThe full-length sequence of the TEAD1 gene was cloned and the two transcripts were subjected to bioinformatics analysis. The subcellsular localization of TEAD1 transcripts was determined based on indirect immunofluorescence. The effects of TEAD1 transcripts overexpression on the proliferation of ICP1 cells were examined by RT-qPCR, CCK-8, and EdU assays; the effects of TEAD1 transcripts on ICP1 cells migration were examined based on the scratch test; and the effects of TEAD1 transcripts overexpression on ICP1 cells apoptosis were analyzed using apoptosis-Hoechst staining and RT-qPCR. The expression of TEAD1 transcripts in different tissues, cells lines, and ICP1 at different periods of differentiation was analyzed by RT-qPCR. The effects of TEAD1 transcripts overexpression on lipid droplet accumulation and adipogenic-related gene expression in ICP1 cells were analyzed based on Oil Red O and BODIPY staining, RT-qPCR, Western blot, and dual-luciferase reporter gene assays. Finally, the content of triglyceride (TG) was measured in TEAD1 overexpressed ICP1 cells. ResultsThe full-length TEAD1 was cloned and two TEAD1 transcripts were identified. The TEAD1-V1 protein was found to be localized primarily in the cell nucleus, whereas the TEAD1-V2 protein is localized in the cell cytoplasm and nucleus. The overexpression of both TEAD1-V1 and TEAD1-V2 significantly inhibited the proliferation of ICP1 cells. Whereas the overexpression of TEAD1-V1 promoted ICP1 cell migration, the overexpression of TEAD1-V2 had no significant effects on ICP1 migration; the overexpression of both TEAD1-V1 and TEAD1-V2 significantly promoted the apoptosis of ICP1 cells. We found that the different transcripts of TEAD1 have similar expression pattern in different tissues and cells lines. During induced preadipocyte differentiation, the expression of these genes initially declined, although subsequently increased. Overexpression of TEAD1-V1 promoted a significant reduction in lipid droplet formation and inhibited C/EBPα expression during the differentiation of ICP1 cells (P<0.05). However, the overexpression of TEAD1-V2 had no significant effect on lipid droplet accumulation or the expression of adipogenic-related proteins (P>0.05). Overexpression of TEAD1-V1 significantly decreased triglyceride content in ICP1 cells (P<0.05), while overexpression of TEAD1-V2 had no effect on triglyceride content in ICP1 cells (P>0.05). ConclusionIn this study, for the first time, identified two TEAD1 transcripts. Overexpressed transcripts TEAD1-V1 and TEAD1-V2 both inhibited the proliferation of chicken preadipocytes and promoted apoptosis of chicken preadipocytes. TEAD1-V1 inhibited the differentiation of preadipocytes and promoted the migration of preadipocytes, while TEAD1-V2 had no effect on the differentiation and migration of preadipocytes.

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disease caused by abnormal expression of glycosylphosphatidylinositol (GPI) on the cell membrane due to mutations in the phosphatidylinositol glycan class A(PIGA) gene. It is commonly characterized by intravascular hemolysis, repeated thrombosis, and bone marrow failure, as well as multiple systemic involvement symptoms such as renal dysfunction, pulmonary hypertension, swallowing difficulties, chest pain, abdominal pain, and erectile dysfunction. Due to the rarity of PNH and its strong heterogeneity in clinical manifestations, multidisciplinary collaboration is often required for diagnosis and treatment. Peking Union Medical College Hospital, relying on the rare disease diagnosis and treatment platform, has invited multidisciplinary clinical experts to form a unified opinion on the diagnosis and treatment of PNH, and formulated the Expert Consensus of Multidisciplinary Diagnosis and Treatment for Paroxysmal Nocturnal Hemoglobinuria (2024), with the hope of promoting the standardization of PNH diagnosis and treatment.

Objective To investigate the effect of Tongsheng Prescription on trimethylamine N-oxide(TMAO)and related metabolites substrate in patients with acute cerebral infarction after intervention and to evaluate its clinical efficacy.Methods A prospective randomized controlled study was conducted in 48 patients with acute ischemic stroke with large vessel occlusion(AIS-LVO)who had received endovascular treatment(EVT).The patients were divided into an observation group(25 cases)and a control group(23 cases).After emergency EVT,the control group was treated with routine western medicine,and the observation group was treated with nasogastric feeding or oral use of Tongsheng Prescription on the basis of treatment for the control group.The course of treatment lasted for seven days,and then the patients were followed up for three months.Before operation,7 days and 90 days after operation,National Institutes of Health Stroke Scale(NIHSS)scores in the two groups were observed.The functional prognosis evaluated with Modified Rankin Scale(MRS)scores was compared between the two groups,and the effects of Tongsheng Prescription on serum TM AO and related metabolites choline,betaine and L-carnitine were investigated.Results(1)On the postoperative day 7 and 90,the NIHSS scores of the two groups were decreased compared with those before operation(P＜0.01),and the decrease of NIHSS scores on the postoperative day 7 and 90 in the observation group was significantly superior to that in the control group(P＜0.01).(2)On the postoperative day 90,the rate of good functional outcome in the observation group was 96.00％(24/25),which was significantly higher than 69.57％(16/23)in the control group,and the difference was statistically significant(P＜0.05).(3)On the postoperative day 7 and 90,the levels of TMAO,L-carnitine and betaine in the observation group tended to decrease compared with those before operation,but the difference was not statistically significant(P＞0.05).However,the levels of TMAO,L-carnitine and betaine in the control group were significantly increased compared with those before operation(P＜0.01).On the postoperative day 7,the levels of TMAO,L-carnitine and betaine in the observation group were significantly lower than those in the control group,and the differences were statistically significant(P＜0.05).(4)Spearman correlation analysis showed that TMAO was positively correlated with NIHSS score,L-carnitine and choline(P＜0.05 or P＜0.01).Conclusion Tongsheng Prescription has a significant effect on AIS-LVO patients seven days after EVT.The Prescription is beneficial to obtain a good functional outcome,and its mechanism may be related to the decrease of TMAO level through L-carnitine and betaine pathways,so as to improve the neurological deficit symptoms of stroke patients.

Objective To investigate the effects of Tianma Jiannao Granules(derived from Banxia Baizhu Tianma Decoction)combined with hyperbaric oxygen on cognitive function,activities of daily living(ADL),and the expression levels of serum inflammatory factors,matrix metalloproteinase 9(MMP-9),homocysteine(Hcy)and superoxide dismutase(SOD)in patients with vascular dementia(VD).Methods A total of 100 VD patients with wind-phlegm and stasis obstruction type were randomly divided into a trial group and a control group,50 cases in each group.The patients in the two groups were given symptomatic treatment such as controlling blood pressure,lowering blood glucose and regulating blood lipid.Additionally,the control group was given Oxiracetam Capsules orally,and the trial group was given Tianma Jiannao Granules orally combined with hyperbaric oxygen therapy on the basis of treatment for the control group.The course of treatment covered 12 weeks.The changes of traditional Chinese medicine(TCM)syndrome scores,Mini-Mental State Examination(MMSE)scores,ADL scores,and the expression levels of serum inflammatory factors,neurotransmitters,apoptosis-related factors,MMP-9,Hcy and SOD in the two groups were observed before and after treatment.Results(1)The scale scoring showed that after treatment,the TCM syndrome scores and ADL scores of the two groups were significantly decreased compared with those before treatment(P＜0.05),and the MMSE scores were significantly increased compared with those before treatment(P＜0.05).The decrease of TCM syndrome scores and ADL scores and the increase of MMSE scores in the trial group were significantly superior to those in the control group(P＜0.01).(2)After treatment,the serum levels of inflammatory factors such as tumor necrosis factor α(TNF-α),C-reactive protein(CRP)and interleukin 6(IL-6)in the two groups were significantly decreased compared with those before treatment(P＜0.05),and the decrease of serum TNF-α,CRP and IL-6 levels in the trial group was significantly superior to that in the control group(P＜0.01).(3)After treatment,the serum levels of neurotransmitters such as norepinephrine(NE),dopamine(DA)and 5-hydroxytryptamine(5-HT)in the two groups were significantly increased compared with those before treatment(P＜0.05),and the increase of serum NE,DA and 5-HT levels in the trial group was significantly superior to that in the control group(P＜0.01).(4)After treatment,the serum level of apoptosis-related factor of heme oxygenase-1(HO-1)in the two groups was significantly increased compared with that before treatment(P＜0.05),and the levels of serum soluble apoptosis-related factors(sFAS)and their ligands(sFASL)were significantly decreased compared with those before treatment(P＜0.05).The increase of serum HO-1 level and the decrease of serum sFAS and sFASL levels in the trial group were significantly superior to those in the control group(P＜0.01).(5)After treatment,the serum SOD level in the two groups was significantly increased compared with that before treatment(P＜0.05),and the levels of serum MMP-9 and Hcy were significantly decreased compared with those before treatment(P＜0.05).The increase of serum SOD level and the decrease of serum MMP-9 and Hcy levels in the trial group were significantly superior to those in the control group(P＜0.01).Conclusion Tianma Jiannao Granules combined with hyperbaric oxygen is effective on improving the cognitive function and ADL of VD patients,and has certain effects on counteracting inflammatory response and oxidation and on regulating the expression of neurotransmitters.