RUNX1-BMP2 promotes vasculogenic mimicry in laryngeal squamous cell carcinoma via activation of the PI3K-AKT signaling pathway.

BACKGROUND: Laryngeal squamous cell carcinoma (LSCC) is one of the most common malignant tumors of the head and neck. Vasculogenic mimicry (VM) is crucial for tumor growth and metastasis and refers to the formation of fluid channels by invasive tumor cells rather than endothelial cells. However, the regulatory mechanisms underlying VM during the malignant progression of LSCC remain largely unknown. METHODS: Gene expression and clinical data for LSCC were obtained from the TCGA and Gene GEO (GSE27020) databases. A risk prediction model associated with VM was established using LASSO and Cox regression analyses. Based on their risk scores, patients with LSCC were categorized into high- and low-risk groups. The disparities in immune infiltration, tumor mutational burden (TMB), and functional enrichment between these two groups were examined. The core genes in LSCC were identified using the machine learning (SVM-RFE) and WGCNA algorithms. Subsequently, the involvement of bone morphogenetic protein 2 (BMP2) in VM and metastasis was investigated both in vitro and in vivo. To elucidate the downstream signaling pathways regulated by BMP2, western blotting was performed. Additionally, ChIP experiments were employed to identify the key transcription factors responsible for modulating the expression of BMP2. RESULTS: We established a new precise prognostic model for LSCC related to VM based on three genes: BMP2, EPO, and AGPS. The ROC curves from both TCGA and GSE27020 validation cohorts demonstrated precision survival prediction capabilities, with the nomogram showing some net clinical benefit. Multiple algorithm analyses indicated BMP2 as a potential core gene. Further experiments suggested that BMP2 promotes VM and metastasis in LSCC. The malignant progression of LSCC is promoted by BMP2 via the activation of the PI3K-AKT signaling pathway, with the high expression of BMP2 in LSCC resulting from its transcriptional activation by runt-related transcription factor 1 (RUNX1). CONCLUSION: BMP2 predicts poor prognosis in LSCC, promotes LSCC VM and metastasis through the PI3K-AKT signaling pathway, and is transcriptionally regulated by RUNX1. BMP2 may be a novel, precise, diagnostic, and therapeutic biomarker of LSCC.

[Neonatal cervical chondromesenchymal hamartoma: a case report and literature review].

Cartilage mesenchyme hamartoma originates from the mesoderm and contains a blend of interstitium and cartilage, which is mostly benign tumor and is a non-neoplastic cartilage lesion with self-limiting hyperplasia. This article reports a infant with cervical chondromesenchymal hamartoma in the neck, the main clinical manifestations of which are asphyxia and acute respiratory distress, and the imaging features are often similar to those of malignant tumors.Radical resection operation under general anesthesia is the main treatment method, and the postoperative pathological diagnosis was cartilage mesenchyme, and immunohistochemistry showed Catenin（-）,MDM2（+）,CDK4（-）,H3K36M（+）,Myogenin （-）,SMA （-）.The clinical characteristics and diagnosis and treatment process of this case are reported and related literature is reviewed.

[The relationship between birth weight and obstructive sleep apnea in children].

Objective:To study the relationship between children's birth weight and obstructive sleep apnea（OSA）. Methods:The sleep data and birth information of children who underwent polysomnography in the Department of Otorhinolaryngology-Head and Neck Surgery of Henan Children's Hospital from October 2020 to July 2022 were retrospectively analyzed. The data of OSA detection rate, OSA severity, sleep structure and respiratory parameters in different birth weight groups were analyzed. Results:A total of 2 778 children met the inclusion criteria, including 1 833 males and 945 females. According to birth weight, the selected children were divided into three groups: 122 small for gestational age（SGA） group, 2 313 appropriate for gestational age（AGA）, and 343 large for gestational age（LGA） group. There was no significant difference in age between different groups（P=0.061）. In each group, boys are significantly more numerous than girls（P=0.001）. The difference in current body mass index（BMI） between groups was statistically significant: the current BMI was higher in the LGA group（17.51±4.01, P<0.001）. The severity of OSA was different in different birth weight groups（P=0.037）. There was a strong positive correlation between the severity of OSA and birth weight（r=0.992）. Children in the SGA group had shorter rapid eye movement（REM） sleep period（19.00[15.18, 23.33], P=0.012）, higher obstructive apnea-hypopnea index（OAHI） values（1.75[0.60, 5.13], P=0.019）, and had lower central apnea hypopnea index（CAHI） values（0.10[0.00, 0.50], P=0.020）. There were no significant differences in sleep structure and respiratory parameters between the LGA group and the AGA group. Multiple regression analysis of the factors affecting the OAHI index showed that the OAHI index of boys was higher than that of girls（95%CI 1.311-2.096, P<0.001）, and age was negatively correlated with the OAHI index（r=-0.105, 95%CI 0.856-0.946, P<0.001）, current BMI and OAHI index were positively correlated（r=0.037, 95%CI 1.010-1.065, P=0.007）. LGA was positively correlated with OAHI index（r=0.346, 95%CI 1.039-1.921, P=0.027）, and the correlation between LGA and OAHI（r=0.346） was higher than that between SGA and OAHI（r=0.340）. Conclusion:There was no significant difference in the incidence of OSA in children with different birth weight groups, but the OSA severity of LGA group was higher. Gender, age, BMI index and large for gestational age were the influencing factors for the occurrence of OSA in children, which should be paid more attention to in clinical practice.

The application of the strip-shaped cymba conchae orthosis in the nonsurgical correction of complex auricular deformity.

Objective: This study aims to evaluate the efficacy and safety of using a strip-shaped cymba conchae orthosis for the nonsurgical correction of complex auricular deformities. Methods: Clinical data were collected from 2020 to 2021 for 6 patients who underwent correction using a strip-shaped cymba conchae orthosis. The indications, corrective effects, and complications associated with use of the orthosis were analyzed. Results: There were four indications for treatment: cryptotia with helix adhesion; cryptotia with grade I microtia; cryptotia with excessive helix thickness; and auricular deformity beyond the treatment time window (≥6 months). Excellent corrective effects were observed in all 6 patients. Complications occurred in one patient, who recovered after symptomatic treatment. Conclusion: The use of a strip-shaped cymba conchae orthosis alone or combined with a U-shaped helix orthosis presents a feasible approach for correcting complex auricular deformities or deformities beyond the treatment time window in pediatric patients.

Cuproptosis-related LINC02454 as a biomarker for laryngeal squamous cell carcinoma based on a novel risk model and in vitro and in vivo analyses.

PURPOSE: Laryngeal squamous cell carcinomas (LSCCs) are aggressive tumors with the second-highest morbidity rate in patients with head and neck squamous cell carcinoma. Cuproptosis is a type of programmed cell death that impacts tumor malignancy and progression. The purpose of this study was to investigate the relationship between cuproptosis-related long non-coding RNAs (crlncRNAs) and the tumor immune microenvironment and chemotherapeutic drug sensitivity in LSCC, and crlncRNA impact on LSCC malignancy. MATERIALS AND METHODS: Clinical and RNA-sequencing data from patients with LSCC were retrieved from the Cancer Genome Atlas. Differentially expressed prognosis-related crlncRNAs were identified based on univariate Cox regression analysis, a crlncRNA signature for LSCC was developed and validated using LASSO Cox regression. Finally, the effect of LINC02454, the core signature crlncRNA, on LSCC malignancy progression was evaluated in vitro and in vivo. RESULTS: We identified a four-crlncRNA signature (LINC02454, AC026310.1, AC090517.2, and AC000123.1), according to which we divided the patients into high- and low-risk groups. The crlncRNA signature risk score was an independent prognostic indicator for overall and progression-free survival, and displayed high predictive accuracy. Patients with a higher abundance of infiltrating dendritic cells, M0 macrophages, and neutrophils had worse prognoses and those in the high-risk group were highly sensitive to multiple chemotherapeutic drugs. Knockdown of LINC02454 caused tumor suppression, via cuproptosis induction. CONCLUSIONS: A novel signature of four crlncRNAs was found to be highly accurate as a risk prediction model for patients with LSCC and to have potential for improving the diagnosis, prognosis, and treatment of LSCC.

Case Report: Congenital Myasthenic Syndrome Presenting with Bilateral Vocal Cord Paralysis Caused by De-Novel Compound Heterozygous MUSK Mutation.

Background: We report the genetic etiology of a case of bilateral vocal cord paralysis in a female infant. Case Description: The female infant developed dyspnea after birth, which improved with treatment, allowing her to be discharged from the local hospital. At 2 months of age, the child experienced a recurrence of dyspnea and was treated in a local hospital with interventions such as tracheal intubation and mechanical ventilation. However, as the child continued to suffer from dyspnea, she was transferred to the neonatal intensive care unit of the Children's Hospital affiliated to Zhengzhou University for further treatment. A second electronic nasopharyngoscopy examination revealed bilateral vocal cord paralysis. The child underwent a tracheostomy due to a failure to wean from mechanical ventilation; after surgery, the respirator was effectively removed, and oxygen delivery ceased. The child and her parents underwent genetic testing with next-generation sequencing technology, which revealed that the child had two heterozygous variants in the MUSK gene, namely the c.2287G>A heterozygous mutation (p.Ala763Thr) and the c.790C>T heterozygous mutation. In addition, Sanger sequencing was performed, which confirmed that these two mutations were, respectively, inherited from the mother and father. Conclusion: Congenital myasthenic syndrome caused by MUSK gene mutations can present clinically as bilateral vocal cord paralysis in neonates.

[Research progress on correlation between childhood obesity and obstructive sleep apnea].

Prevalence of childhood obesity is progressively increasing, reaching worldwide levels of 5.6% in girls and of 7.8% in boys. This also leads to a corresponding increase in the prevalence of obesity-associated morbidities particularly those involving obstructive sleep apnea（OSA）. Obesity is an independent risk factor and regulator of OSA in children. There is a bidirectional causal relationship between OSA and obesity in children. The factors involved in the association between OSA and obesity are systemic inflammation, oxidative stress, and gut microbiota etc. However, a causal link between obesity-related inflammatory state and OSA pathogenesis still needs to be properly confirmed. The present review aimed to investigate the links between childhood obesity and OSA.

A Clinical Analysis of Pharyngeal Bronchogenic Cysts in the Pharynx of Children.

Objective: This study was designed to summarize the clinical characteristics, diagnosis and treatment of pharyngeal bronchogenic cysts in children to help in making the correct diagnosis and developing an appropriate treatment plan. Methods: The clinical data of 13 children with bronchogenic cysts in the pharynx, who were treated in otolaryngology head and neck surgery department between September 2013 and July 2019, were analyzed retrospectively. The clinical characteristics were evaluated, and the related factors for diagnosis and treatment were analyzed. Clinical characteristics and imaging features of three cases whose lesions located in the nasopharyngeal, oropharynx, and laryngopharyngeal were demonstrated. Results: All 13 children were male, the youngest being 4 days old, the oldest 6 years and 6 months, and the median age being 1 year and 4 months. Eight patients were diagnosed during a physical examination, and five patients visited the doctor with different degrees of upper airway obstruction. The mass was located in the nasopharynx in one patient, in the oropharynx in eight patients, and in the laryngopharynx in the other four patients. Computed tomography (CT) scanning, which is helpful for a topical diagnosis, showed a dense homogeneous mass. Electronic nasopharyngoscopy showed cystic masses of different sizes in the pharynx. All the children underwent cyst resection under general anesthesia, and the postoperative pathology result was a bronchogenic cyst. One child was lost to follow-up, but the remaining 12 children were followed up for between 6 months and 6 years, during which no recurrence of a cyst was found. Conclusion: Bronchogenic cysts are a rare cyst of the head and neck, and the most common site of the cyst is the oropharynx. The impact on airway obstruction depends on the location and size of the cyst. CT scanning is of great significance for diagnosis. Surgical treatment should be carried out as soon as possible after diagnosis, as surgery is the most effective way to treat bronchogenic cysts. Follow-ups should be carried out regularly to prevent cyst recurrence.

Cochlear implantation in children with white matter lesions: Prediction of hearing outcomes by multiple regression analysis.

ABSTRACT: Brain magnetic resonance imaging (MRI) white matter lesions have been reported in some preoperative cochlear implant children. However, the role of white matter lesions in predicting the hearing outcome is yet unclear. The present study investigated the outcomes of cochlear implantation (CI) in 40 children with white matter lesions.The data from children with white matter lesions were reviewed in this retrospective study. Based on brain MRI, the patients were divided into 3 groups: mild, moderate, and severe. The children were treated with unilateral CI and monitored for a follow-up period of at least 3 years. The main outcome measures were category of auditory performance (CAP) and speech intelligibility rating (SIR). MRI white matter lesions, age at implant, gender, physical impairment, and cognitive impairment were obtained from a research database to assess the correlation with long-term CAP and SIR outcome by multiple regression analysis.The data of children with white matter lesions were reviewed (18 females and 23 males). The mean age at implantation was 31.6 months. Strikingly, all children obtained better CAP and SIR scores. The age at implantation, brain white matters lesions on MRI, and cognitive and physical disabilities were associated with CAP and SIR scores. Multiple regression established a weak correlation between the degree of white matter lesions on brain MRI and long-term CAP and SIR, while cognitive impairment strongly accounted for long-term CAP and SIR outcome.The majority of the children with brain white matter lesions obtained a satisfactory postoperative effect. The cognitive impairment before CI is a major factor, and such factor should be considered.

Summary of the Experience in the Diagnosis and Treatment of Complex Preauricular Fistulas in 78 Children.

Objective: This study aimed to investigate the application of mini-incisions in complex preauricular fistula resection in children. Methods: A total of 78 children who were diagnosed with preauricular fistula infection between January 2017 and December 2019 were included in the study. Their clinical data were analyzed retrospectively, and surgical treatment with mini-incisions based on plastic surgery principles and techniques was provided. Results: All the patients achieved healing following the first application of the treatment. The patients were followed up for 6-42 months, and no recurrence or local auricular deformation occurred. Conclusion: The application of mini-incisions and plastic surgery techniques in complex preauricular fistula resection in children can achieve a good effect and improve the satisfaction of the children and their parents.

[A clinical review of 3 cases of children with bronchial tumor].

OBJECTIVE: To investigate the clinical characteristics of bronchial tumors in 3 children to improve the diagnosis of pediatric bronchial tumor. METHODS: Three cases of children bronchial malignant tumors diagnosed by rigid bronchoscopy were analyzed retrospectively. RESULTS: The 3 children were males, aged from 6 to 10 years old, and presented with cough, sputum, and fever symptoms for 1 day to 3 months. Chest CT scan and airway remodeling examinations indicated the children's main bronchi were blocked and then the diagnoses of bronchial foreign bodies were made. However bronchial tumors were found in the 3 children by rigid bronchoscopy and were determined as mucoepidermoid carcinoma, large cell lung carcinoma with rhabdoid phenotype, and inflammatory myofibroblastic tumor, respectively. CONCLUSIONS: Children with bronchial tumor often present with cough, wheezing and other respiratory symptoms that are not specific to bronchial tumor. When a child complaint of repeated cough and wheezing symptoms with unknown cause, not only bronchial foreign body and also bronchial tumor should be considered.

[Perioperative management of bilateral bronchial foreign bodies in infants].

OBJECTIVE: To explore the perioperative management of bilateral bronchial foreign bodies in infants to improve the cure rate in the children. METHODS: The medical charts of 45 infants with bilateral bronchial foreign bodies were reviewed. Clinical features and key points to surgery as well as post-operative care were analyzed. RESULTS: All foreign bodies were removed with rigid bronchoscopy under general anesthesia, and 44 of 45 infants were cured with assistance of anti-infective treatments within 3-5 days and one with acute laryngitis and bronchitis was cured through 10-day anti-infective treatment with vancomycin. CONCLUSION: Removal of foreign body by rigid bronchoscopy under general anesthesia is a preferred method to treat bilateral bronchial foreign bodies in infants, to whom early diagnosis, early treatment and postoperative careful care are keys to get a good outcome.

[Analysis of deafness-related gene mutations in 100 non-syndromic hearing loss patients in Henan province].

OBJECTIVE: To preliminarily determine the gene mutation frequency and the hotspots in Henan province, we analysed the deafness-related gene mutation in patients with non-syndromic hearing loss (NSHL). METHOD: Genomic DNA samples of 100 patients with NSHL in Henan province were extracted from peripheral blood after clinical history inquiry and clinical examination, Four common deafness genes GJB2, SLC26A4, mitochondrial 12SrRNA, and GJB3 were detected by Sanger sequencing method,and then data analysis were conducted. RESULT: Among 100 patients with NSHL. the gene mutation frequency was 44%. In these patients, 29 cases had GJB2 mutations, 13 cases had SLC26A4 gene mutations, and 3 cases had mitochondrial 12SrRNA mutations. CONCLUSION: Among the patients with NSHL in Henan province, the most frequent mutation causing hereditary deafness was mutation in GJB2, followed by SLC26A4,and it will provide a theoretical basis to determine the etiology of deafness in Henan Province.

[Risk factors of acute respiratory dysfunction in children with airway foreign body].

OBJECTIVE: This study aims to analyze the independent risk factors of acute respiratory dysfunction (ARD) in children with airway foreign body and to assess possible prevention and treatment option in the future. METHODS: Clinical data of 456 cases of children with airway foreign body were retrospectively collected and analyzed by cluster sampling, including 246 males and 210 females, who received operation in our hospital between July, 2009 and December, 2012, aged 0.5-11 years old, onset to treatment time was 0.15-14 days. Clinical characteristics including age, gender, past medical history, time of onset, temperature, location of the foreign body, category of foreign bodies, complicated by pneumonia, complicated by subcutaneous and mediastinal emphysema were gathered. Temperature, respiratory rate, heart rate, cyanosis, transcutaneous oxygen saturation or arterial blood analysis were assayed before operation. Risk factors with statistical significance were screened with univariate logistic regression analysis, independent risk factors of ARD were determined with multivariate logistic regression analysis. RESULTS: Acute respiratory dysfunction occurred in 78 (17.1%) patients. The foreign bodies in 455 cases were successfully removed brochoscopically in the first time. One case received chest surgery for foreign body removal. Total of 452 cases were successfully extubated and ventilator weaned 4-6 h after brochoscopy. In 2 cases, the ventilator was weaned 2-4 d after brochoscopy in ARD group, and 2 cases with severe pneumonia died. Age, location of the foreign body, temperature, complicated by pneumonia, complicated by subcutaneous and mediastinal emphysema did not show significant difference between acute respiratory dysfunction group and non- acute respiratory dysfunction group (P < 0.05). Multivariate logistic regression analysis showed location of the foreign body and complicated by pneumonia, complicated by subcutaneous and mediastinal emphysema were independent risk factors for ARD. CONCLUSION: Early judgement of the risk factors of acute respiratory dysfunction in children with airway foreign body can provide a reference for the operation and perioperation period treatment.