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1.
Nature ; 531(7595): 471-475, 2016 Mar 24.
Artigo em Inglês | MEDLINE | ID: mdl-26982726

RESUMO

Mutations disabling the TP53 tumour suppressor gene represent the most frequent events in human cancer and typically occur through a two-hit mechanism involving a missense mutation in one allele and a 'loss of heterozygosity' deletion encompassing the other. While TP53 missense mutations can also contribute gain-of-function activities that impact tumour progression, it remains unclear whether the deletion event, which frequently includes many genes, impacts tumorigenesis beyond TP53 loss alone. Here we show that somatic heterozygous deletion of mouse chromosome 11B3, a 4-megabase region syntenic to human 17p13.1, produces a greater effect on lymphoma and leukaemia development than Trp53 deletion. Mechanistically, the effect of 11B3 loss on tumorigenesis involves co-deleted genes such as Eif5a and Alox15b (also known as Alox8), the suppression of which cooperates with Trp53 loss to produce more aggressive disease. Our results imply that the selective advantage produced by human chromosome 17p deletion reflects the combined impact of TP53 loss and the reduced dosage of linked tumour suppressor genes.


Assuntos
Genes p53/genética , Neoplasias/genética , Neoplasias/patologia , Deleção de Sequência/genética , Proteína Supressora de Tumor p53/deficiência , Alelos , Animais , Transformação Celular Neoplásica/genética , Cromossomos Humanos Par 17/genética , Cromossomos de Mamíferos/genética , Modelos Animais de Doenças , Progressão da Doença , Feminino , Heterozigoto , Humanos , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/patologia , Linfoma/genética , Linfoma/patologia , Masculino , Camundongos , Fatores de Iniciação de Peptídeos/genética , Fatores de Iniciação de Peptídeos/metabolismo , Proteínas de Ligação a RNA/genética , Proteínas de Ligação a RNA/metabolismo , Sintenia/genética , Fator de Iniciação de Tradução Eucariótico 5A
2.
Int J Pediatr Otorhinolaryngol ; 176: 111788, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38039804

RESUMO

OBJECTIVE: This study aimed to compare the tonsillar microbiota between post tonsillectomy patients with bleeding and without bleeding, and to investigate the potential role of tonsillar microbiota in the development of post-tonsillectomy hemorrhage (PTH). METHODS: Nineteen tonsillar tissues from PTH patients and 21 tissues from control patients were collected. Metagenomic sequencing was used to compare the microbiota in PTH and control groups. Alpha diversity indices were used to compare the richness and evenness of the microbiota between the two groups. PCoA and NMDS analyses were used to evaluate beta diversity. LDA analysis was conducted to identify significantly abundant genera. RESULTS: No significant difference in alpha diversity indices was found between PTH and control patients. The dominant bacteria in the tonsillar microbiota were Haemophilus, Streptococcus, and Fusobacterium. PCoA and NMDS analyses showed significant differences in beta diversity between PTH and control patients. PTH patients had a significantly higher relative abundance of Neisseria, Capnocytophaga, and Veillonella. Capnocytophaga was also identified as a significantly abundant genus by LDA analysis. CONCLUSION: This study demonstrates that there is a difference in the tonsillar microbiota between PTH and control patients. The results suggest that Neisseria, Capnocytophaga, and Veillonella may be associated with the development of PTH. These findings provide new insights into the potential role of the tonsillar microbiota in the development of PTH, and may help to develop new strategies for preventing and treating this potentially life-threatening complication.


Assuntos
Microbiota , Tonsilectomia , Criança , Humanos , Tonsila Palatina/cirurgia , Tonsila Palatina/microbiologia , Tonsilectomia/efeitos adversos , Hemorragia , Hipertrofia , Neisseria
3.
Int J Pediatr Otorhinolaryngol ; 184: 112074, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39180790

RESUMO

AIM: This study explored the value of Chirp-auditory brainstem response (ABR) thresholds in assessing the hearing threshold of children diagnosed with auditory neuropathy spectrum disorder (ANSD). METHODS: A total of 20 children with ANSD (40 ears, aged 1.5-7.0 years, median age 4.5 years) and 31 children with sensorineural hearing loss (SNHL) (52 ears, aged 0.9-8.0 years, median age 3.7 years) were included. Besides, 25 normal children (50 ears, aged 0.8-7.5 years, median age 4.6 years) were used as controls. Chirp-ABR and behavioral audiometry were performed simultaneously among three groups of children, allowing for a comparison of the thresholds obtained through both methods. RESULTS: In ANSD children, the correlation (r-values) between the thresholds obtained from Chirp-ABR and behavioral audiometry at 500-4000 Hz were 0.84, 0.67, 0.59, and 0.60, respectively. The average threshold differences between two methods ranged from 9.7 to 13.3 dB at 500-4000 Hz. Notably, 20 % ears (8/40) exhibited considerable discrepancies (>30 dB) in thresholds at certain frequencies. For SNHL children, the r-values between two methods were 0.84, 0.89, 0.92, and 0.93, respectively. The average threshold differences between two methods were 5.7-8.2 dB at 500-4000 Hz. Similarly, in normal children, the average threshold differences between two methods ranged from 6.1 dB to 7.7 dB, the r-values were 0.81, 0.78, 0.80, and 0.80 at 500-4000 Hz, respectively. CONCLUSION: Chirp-ABR threshold is not suitable to predict the behavioral audiometry threshold in ANSD children. When there is a significant discrepancy (>30 dB) between Chirp-ABR thresholds and behavioral audiometry thresholds in hearing loss, ANSD should be highly suspected.


Assuntos
Limiar Auditivo , Potenciais Evocados Auditivos do Tronco Encefálico , Perda Auditiva Central , Perda Auditiva Neurossensorial , Humanos , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/fisiopatologia , Pré-Escolar , Criança , Limiar Auditivo/fisiologia , Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia , Masculino , Feminino , Perda Auditiva Central/diagnóstico , Perda Auditiva Central/fisiopatologia , Lactente , Estudos de Casos e Controles , Audiometria/métodos , Audiometria de Tons Puros/métodos
4.
J Laryngol Otol ; : 1-5, 2024 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-38685689

RESUMO

OBJECTIVES: To evaluate one-stage thyroid cartilage laryngotracheal reconstruction in children less than one year of age with congenital subglottic stenosis. METHODS: Congenital subglottic stenosis children less than one year old who underwent one-stage thyroid cartilage laryngotracheal reconstruction between 2016 and 2020 in our department were retrospectively reviewed. Their clinical characteristics, treatments and prognoses were assessed. RESULTS: Eleven congenital subglottic stenosis children (6-11 months) were included: seven with Myer-Cotton grade II, and four with Myer-Cotton grade III. Their tracheal diameters were corrected to normal size using thyroid cartilage, and they were intubated under sedation for two weeks after surgery. Moreover, all of them received anti-infection and anti-reflux therapies during hospitalisation. No breathing difficulty, aspiration, hoarseness or laryngitis was observed during the follow-up period (10-30 months), and their growth and development were age appropriate. CONCLUSION: The one-stage thyroid cartilage laryngotracheal reconstruction is a good treatment option for congenital subglottic stenosis children less than one year old with Myer-Cotton grade II-III.

5.
Artigo em Zh | MEDLINE | ID: mdl-37549940

RESUMO

Congenital laryngeal cleft is a rare airway malformation, mainly manifested as choking, feeding difficulties, which affects the growth and development of children. Patients with a severe laryngeal cleft may have recurrent aspiration, leading to cyanotic spells, or even death. Advances in development of endoscopic techniques have made early diagnosis possible. Depending on the degree of cleft, management may involve a variety of approaches ranging from medical management alone to open repair. Therefore, it is important for pediatric ENT doctors to diagnose and evaluate in clinical practice. This consensus statement, developed by the Pediatric otorhinolaryngology Professional Committee of the Pediatrician Branch of the Chinese Medical Doctor Association, provides comprehensive recommendations and standardized guidance on diagnosis and management of laryngeal cleft, based on symptomatology, physical examinations, and laboratory tests.


Assuntos
Laringe , Otolaringologia , Criança , Humanos , Laringe/cirurgia , Endoscopia , Consenso
6.
Artigo em Zh | MEDLINE | ID: mdl-37828877

RESUMO

Pediatric vocal ford paralysis is a vocal cord movement disorder caused by damage to the pediatric laryngeal motor nerves.It is mainly characterized by voice, breathing,and swallowing difficulties,and in severe cases,it can lead to choking in affected children. Currently, the diagnosis and treatment of this condition pose a significant challenge for pediatric otolaryngologists, as the goal is to minimize damage to the vocal folds and laryngeal framework.In order to standardize the diagnosis and treatment of pediatric vocal cord paralysis, the Pediatric Otolaryngology Committee of the Chinese Medical Association,in collaboration with multiple children's medical centers nationwide, have formulated this consensus document.


Assuntos
Doenças da Laringe , Laringe , Paralisia das Pregas Vocais , Voz , Humanos , Criança , Paralisia das Pregas Vocais/diagnóstico , Paralisia das Pregas Vocais/terapia , Consenso , Prega Vocal/cirurgia , Doenças da Laringe/complicações
7.
Artigo em Zh | MEDLINE | ID: mdl-37253511

RESUMO

Infants with laryngotracheal anomalies are clinically manifested as stridor or noisy breathing, choking, hoarseness, feeding difficulties, and cyanotic spells, followed by developmental and growth retardation and other health issues; in severe cases, patients may present with severe dyspnea, which is associated with high mortality. A timely diagnosis as well as appropriate strategy for laryngotracheal anomalies is still challenging for pediatric otolaryngologists. This consensus statement, evolved from expert opinion by the members of the Pediatric Otorhinolaryngology Professional Committee of the Pediatrician Branch of the Chinese Medical Doctor Association, provides comprehensive recommendations and standardized guidance for otolaryngologists who manage infants and young children with laryngotracheal anomalies in evaluation and treatment based on symptomatology, physical and laboratory examinations.


Assuntos
Obstrução das Vias Respiratórias , Laringoestenose , Humanos , Criança , Lactente , Pré-Escolar , Laringoestenose/cirurgia , Obstrução das Vias Respiratórias/complicações , Rouquidão/complicações , Consenso , Sons Respiratórios
8.
Artigo em Zh | MEDLINE | ID: mdl-38114307

RESUMO

This paper focuses on the diagnosis and treatment of disorders of laryngeal airway in children, including congenital anomalies, infection, and tumor of the larynx to provide a new technology for managing these diseases. Based on the characteristic of them, the pediatric upper airway is dedicated to the clinical evaluation of airway obstruction and the assessment of the compromised pediatric airway, including clinical evaluation of symptoms, diagnostic endoscopy, and imaging examination. Information on endoscopic techniques used for dealing with different degrees of pediatric airway comprised is provided, also this techniques could diagnose what kinds of airway disorder. For example, determining the a particular laryngeal cleft at the initial otolaryngology encounter, flexible laryngoscopy should be performed. In order to define the extent of any identified cleft, the rigid bronchoscopy should be completed to evaluate for classification of laryngeal cleft including typeⅠ, Ⅱ, Ⅲa, Ⅲb, Ⅳa, Ⅳb under general anesthesia. The decision to pursue any therapy for the disorders of laryngeal airway in children should be based on the severity of the patient's symptoms, endoscopic and imaging examination. There are two medical treatments including nonsurgical therapy and surgical therapy. For example the laryngeal cleft, approximately half of type 1 and select type 2 patients can be managed entirely with nonsurgical therapy. Medical management is multifaceted. Under recommendations from the feeding team, a modified diet with thickened feeds and possibly altered feeding position should be initiated. Endoscopic surgical repair is the current gold standard for definitive repair of type 1, the majority of type 2, and selected type 3 clefts. Finally, information on new techniques used into the future for dealing with the diagnosis and treatment of disorders of laryngeal airway in children in this paper.


Assuntos
Anormalidades Congênitas , Laringe , Criança , Humanos , Lactente , Laringe/cirurgia , Laringoscopia , Endoscopia , Broncoscopia , Anormalidades Congênitas/cirurgia
9.
Artigo em Zh | MEDLINE | ID: mdl-38114308

RESUMO

Objective:To evaluate the impact of vocal fold nodules on the quality of life of children, and to compare the efficacy between conservative management(voice hygiene education, etc.) and laryngeal microsurgery. Methods:A retrospective study was performed on 102 children with vocal fold nodules, who received treatment in Children's Hospital of Fudan University during the period from January 2020 to December 2022. According to the regime, the patients were divided into conservative management group and surgical treatment group; Cases are divided into pre-school age group (2-5 years old) and school-age group (6-12 years old) based on age. The pediatric voice-related quality of life (pVRQOL) was used to evaluate the impact of vocal fold nodules on the quality of life of children and differences in efficacy between two treatment regimens. Results:The pVRQOL scores of vocal fold nodule grades 1, 2, and 3 were 91.58±8.17, 78.87±12.49, 72.50±12.08, respectively. There were statistical differences between grade 1 and grade 2, and between grade 2 and grade 3. There were statistical differences between grade 1 grade 2, grade 2 and grade 3 (P<0.001), suggesting that the higher the rating of vocal cord nodules, the lower the pVRQOL score of patients was. The pVRQOL score of the school-age group was 69.83±11.11, which is lower than that of the preschool group(87.59±8.63), and the difference was statistically significant (P=0.042). Vocal fold nodules had a significant impact on the pVRQOL score of school-age children. In the conservative management group, the pVRQOL scores before and after treatment were 83.99±12.66 and 87.26±9.58, respectively, and there was significant difference between the two groups(P=0.046). Indirect voice therapy such as voice hygiene education could improve children's pVRQOL scores and was more effective for school-age children(P<0.001). The microsurgical treatment had a more significant improvement in the pVRQOL score of children. Conclusion:The higher the rating of vocal fold nodules, the greater the impact on the quality of life of patients. Vocal fold nodules had a greater impact on the quality of life of school-age children than that of preschool children. Voice hygiene education could improve the quality of life of children, which was more evident in the school-age group. Compared with voice hygiene therapy, laryngeal microsurgery had a more significant effect on improving the pVRQOL score of patients. It is recommended to undergo laryngeal microsurgery for the treatment of vocal fold nodules for the requirement of improving the quality of life related to voice. During the 6-month follow-up period after surgery in this study, the short-term efficacy of laryngeal microsurgery in treating vocal cord nodules in children is clear, but the long-term efficacy needs further research.


Assuntos
Doenças da Laringe , Pólipos , Criança , Humanos , Pré-Escolar , Prega Vocal/patologia , Qualidade de Vida , Estudos Retrospectivos , Qualidade da Voz , Doenças da Laringe/cirurgia , Pólipos/patologia
10.
Ear Nose Throat J ; : 1455613231211311, 2023 Nov 16.
Artigo em Inglês | MEDLINE | ID: mdl-37970829

RESUMO

Objective: This study was aimed to describe the clinical features and outcomes of Omicron-associated croup in children. Methods: A total of 105 children aged 3-60 months (median age 11 months) with coronavirus disease 2019 (COVID-19) and cough were admitted to our hospital from December 16, 2022, to December 31, 2022. Their clinical features, treatment, and outcomes were reviewed. These children were followed up for 8 months. Results: Among the cases, 5 had complex medical histories, while the other children were generally healthy. Out of the cases, 41 (38.3%), 57 (54.4%), and 7 (6.7%) had mild, moderate, and severe laryngeal obstruction, respectively. They developed croup after 1-5 days of fever (median 2 days). The majority (90.5%) of COVID-19 children with croup did not have pneumonia, and most of them (64.8%) had decreased eosinophil counts. Additionally, most other blood routine indicators were normal. Five other viral infections (chlamydia pneumoniae, respiratory syncytial virus, adenovirus, coxsackie virus, and mycoplasma pneumoniae) were tested in 51 cases, and all results were negative. All cases recovered from croup after receiving prompt nebulization therapy and/or intravenous drip of hormone. The hospitalization rate was 6.7%. During the 8-month follow-up period, 71 cases experienced repeated fever due to various infections, but only 4 cases (4/105, 3.8%) had repeated croup. Conclusion: Omicron is a risk factor for croup, with most cases presenting mild to moderate laryngeal obstructions. Co-viral infection testing is unnecessary for such cases. The symptoms of Omicron-associated croup may be more severe than croup associated with other viruses; however, unnecessary hospitalizations can be avoided, leading to reduced healthcare expenses.

11.
Int J Pediatr Otorhinolaryngol ; 170: 111562, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37172369

RESUMO

OBJECTIVES: Hyperbilirubinemia is a high-risk factor for auditory neuropathy spectrum disorder (ANSD) as well as hearing loss in general. This study described the outcomes of hyperbilirubinemia-associated ANSD infants diagnosed in hearing screening in the neonatal intensive care unit (NICU). METHODS: A total of 578 children with hyperbilirubinemia admitted to the NICU between October 2020 and October 2021 were included in this study. The distortion product otoacoustic emission (DPOAE) and automatic auditory brainstem response (AABR) were combined for hearing screening, and those who failed the DPOAE or/and AABR underwent an auditory brainstem response (ABR) test. Infants with ANSD were followed up for 12 months. RESULTS: Forty infants (40/578, 6.9%) failed the DPOAE or/and AABR tests, of which, 13 (13/578, 2.2%) were diagnosed as ANSD, and 27 (27/578, 4.7%) were diagnosed as having sensorineural hearing loss (SNHL). Of the 13 ANSD infants followed up for 12 months, 7 recovered, 3 improved, 3 did not recover, and 1 was lost, equating to improved or recovered hearing in 75% (9/12) of ANSD infants at 12 months of age. Moreover, the maximum bilirubin in recovered or improved ANSD infants was 408.6 ± 129.0 µmol/L, while the maximum bilirubin in unrecovered ANSD infants was 749.3 ± 323.0 µmol/L. Furthermore, poorly differentiated and absent ABR waveforms were observed in 6 and 14 ears at 1 month, 2 ears were lost, 6 (6/6, 100.0%) and 6 (6/12, 50.0%) ears were recovered or improved at 12 months of age. CONCLUSION: s: The incidence of hyperbilirubinemia associated-ANSD was 2.2% of infants screened in the NICU. ANSD caused by hyperbilirubinemia may be transient, with most infants improving or recovering hearing by 12 months of age. Infants with poorly differentiated ABR waveforms and low bilirubin concentration are more likely to recover and hearing aids are not recommended in hyperbilirubinemia-associated ANSD below 12 months of age.


Assuntos
Perda Auditiva Central , Unidades de Terapia Intensiva Neonatal , Recém-Nascido , Criança , Humanos , Lactente , Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia , Perda Auditiva Central/diagnóstico , Perda Auditiva Central/etiologia , Perda Auditiva Central/epidemiologia , Hiperbilirrubinemia/complicações , Hiperbilirrubinemia/diagnóstico , Emissões Otoacústicas Espontâneas/fisiologia , Bilirrubina , Triagem Neonatal
12.
Cancer Biomark ; 38(1): 1-16, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37355885

RESUMO

BACKGROUND: The incidence of thyroid cancer has risen rapidly over the last decades. Although mortality rates are relatively low compared to other cancers, the rate of new cases started to increase in the early 2000s. While tumor suppressors and oncogenes were recently identified in thyroid cancer, the potential roles of these genes in thyroid cancer remain unclear. OBJECTIVE: Analyze the roles and functions of tumor suppressors and oncogenes in thyroid cancer. METHODS: Thyroid cancer data were collected from public databases, such as the UCSC Xena database of TCGA thyroid cancer, TISIDB, and UALCAN. The genes frequently associated with unfavorable thyroid cancer were examined and validated. The association of these target genes with thyroid tumorigenesis, stages, subtypes, and survival rates were analyzed. Additionally, the genes aberrantly expressed in thyroid cancer and significantly involved in thyroid tumorigenesis, stages, subtypes, and survival rates were identified. RESULTS: Female sex was identified as a risk factor for thyroid cancer. The expression of PAPSS2, PDLIM3, COPZ2, ALDH1B1, ANTXR1, GUF1, and SENP6 negatively correlated with thyroid cancer prognosis. CONCLUSION: Female sex was a risk factor for thyroid cancer. In addition, our analysis suggested that PAPSS2, PDLIM3, COPZ2, ALDH1B1, ANTXR1, GUF1, and SENP6 are negatively correlated with the prognosis of thyroid cancer. The expression of ANTXR1, GUF1, and PDLIM3 was weakly associated with thyroid cancer's immune and molecular subtypes.


Assuntos
Hiperplasia Prostática , Neoplasias da Glândula Tireoide , Masculino , Humanos , Feminino , Hiperplasia Prostática/genética , Hiperplasia Prostática/metabolismo , Caracteres Sexuais , Oncogenes , Neoplasias da Glândula Tireoide/genética , Carcinogênese/genética , Expressão Gênica , Cisteína Endopeptidases/genética , Proteínas dos Microfilamentos/genética , Receptores de Superfície Celular/genética
13.
Artigo em Zh | MEDLINE | ID: mdl-38114314

RESUMO

Laryngeal cyst is a cystic lesion occurring in the laryngeal cavity. Large laryngeal cyst in infants and young children can cause laryngeal wheezing and other upper airway obstruction symptoms. In severe cases, it can be even life-threatening and requires timely surgical treatment. Currently, there is a lack of unified clinical treatment strategy for this disease.This article summarizes the surgical methods, the advantages and disadvantages of various surgical methods for laryngeal cysts in recent years. It is recommended that needle aspiration, partial cyst wall resection, radical cyst dissection, transoral robotic surgery or external approach cyst resection should be selected through full communication and evaluation to clarify the extent of the lesion scope and the advantages and disadvantages of surgery.


Assuntos
Cistos , Doenças da Laringe , Laringe , Procedimentos Cirúrgicos Robóticos , Lactente , Criança , Humanos , Pré-Escolar , Cistos/cirurgia , Cistos/diagnóstico , Doenças da Laringe/cirurgia , Doenças da Laringe/diagnóstico , Laringe/cirurgia , Biópsia por Agulha
14.
Ann Otol Rhinol Laryngol ; 132(4): 371-380, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35499129

RESUMO

OBJECTIVE: The aim of this meta-analysis was to critically assess the effect of cochlear implantation on auditory and speech performance outcomes of children with auditory neuropathy spectrum disorder (ANSD). MATERIAL AND METHODS: A systematic literature search was conducted on PubMed, EMbase, and Web of Science. The outcomes included speech recognition score, Categories of Auditory Performance (CAP), Speech Intelligibility Rating (SIR) score, and open-set speech perception. Results were expressed as standardized mean difference (SMD) or risk ratio (RR) with a 95% confidence interval (95% CI). RESULTS: A total of 15 studies was included in this meta-analysis. Pooled data showed that, there were no significant differences between ANSD and sensorineural hearing loss (SNHL) groups in terms of speech recognition score (SMD = 0.01, 95% CI: -0.45, 0.47; P = .959),CAP (SMD = 0.71, 95% CI: -0.13, 1.54; P = .098), SIR score (SMD = -0.09, 95% CI: -0.49, 0.32; P = .667), and open-set speech perception (RR = 0.85, 95% CI: 0.69, 1.05; P = .142). Sensitivity analysis by removing individual studies one at a time showed that the overall estimate and level of heterogeneity did not change substantially. CONCLUSION: The current evidence suggested that children with ANSD who underwent cochlear implants achieved comparable effects in auditory and speech performance as children with non-ANSD SNHL.


Assuntos
Implante Coclear , Implantes Cocleares , Perda Auditiva Central , Perda Auditiva Neurossensorial , Percepção da Fala , Criança , Humanos , Implante Coclear/métodos , Inteligibilidade da Fala
15.
Front Physiol ; 14: 1098893, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37008008

RESUMO

Objective: To analyze the cranial computed tomography (CT) imaging features of patients with primary ciliary dyskinesia (PCD) who have exudative otitis media (OME) and sinusitis using a deep learning model for early intervention in PCD. Methods: Thirty-two children with PCD diagnosed at the Children's Hospital of Fudan University, Shanghai, China, between January 2010 and January 2021 who had undergone cranial CT were retrospectively analyzed. Thirty-two children with OME and sinusitis diagnosed using cranial CT formed the control group. Multiple deep learning neural network training models based on PyTorch were built, and the optimal model was trained and selected to observe the differences between the cranial CT images of patients with PCD and those of general patients and to screen patients with PCD. Results: The Swin-Transformer, ConvNeXt, and GoogLeNet training models had optimal results, with an accuracy of approximately 0.94; VGG11, VGG16, VGG19, ResNet 34, and ResNet 50, which are neural network models with fewer layers, achieved relatively strong results; and Transformer and other neural networks with more layers or neural network models with larger receptive fields exhibited a relatively weak performance. A heat map revealed the differences in the sinus, middle ear mastoid, and fourth ventricle between the patients with PCD and the control group. Transfer learning can improve the modeling effect of neural networks. Conclusion: Deep learning-based CT imaging models can accurately screen for PCD and identify differences between the cranial CT images.

16.
J Oncol ; 2023: 1248024, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36936375

RESUMO

Background: Esophageal cancer (ESCA) is a common gastrointestinal tumor, and China is one of the regions with a high incidence. Tumor immune-related cells play important roles in the tumorigenesis and development of ESCA. However, the role of tumor immune-related genes in the development of ESCA has not been established. Methods: In this study, weighted gene coexpression network analysis (WGCNA) was used to analyze ESCA gene expression using data from The Cancer Genome Atlas (TCGA) database. Gene expression was associated with clinical traits, and modules related to CD8+T cells, dendritic cells, and regulatory T cells (Tregs) were obtained. Results: The GO analysis showed that inflammatory chemotaxis networks were activated by cell chemotaxis, chemokine activity, and chemokine binding receptor. Three hub genes (IL17C, TNFSF15, and MIA) related to tumor immunity and metastasis were identified by WGCNA, and the abnormal expression of each hub gene in ESCA has a poor prognosis, especially in patients with high expression (P < 0.05). The risk assessment analysis also showed that tumor stage was positively correlated with tumor risk in ESCA (P < 0.05). Therefore, more than 50 pairs of tumor tissues from the T1-T3 stages with different degrees of differentiation and paracancerous tissues were selected to confirm the expression of the three genes using RT-qPCR and immunofluorescence (IF). The infiltration of CD8+ T cells in tumor tissues was lower than that in normal tissues. According to the RT-qPCR, the expressions of IL17 C, TNFSF15, and MIA in moderately and poorly differentiated tissues were significantly higher than those in normal tissues (P < 0.05). In contrast, their expressions were decreased in high differentiated tissues (P < 0.05). Furthermore, IL17C, TNFSF15, and MIA were all positively correlated with immune checkpoint PD-1; TNFSF15 and MIA were also positively correlated with CTLA4, TIGIT, and CD96. Conclusion: In summary, IL17C, TNFSF15, and MIA may act as biomarkers for prognosis in moderately and poorly differentiated ESCAs, and they may be used as predictive genes of immunotherapy associated with CD8+ T cell and Tregs invasion in ESCAs.

17.
Oncogenesis ; 12(1): 5, 2023 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-36750552

RESUMO

Deletions of chromosome 17p, where TP53 gene locates, are the most frequent chromosome alterations in human cancers and associated with poor outcomes in patients. Our previous work suggested that there were p53-independent mechanisms involved in chromosome 17p deletions-driven cancers. Here, we report that altered arachidonate metabolism, due to the deficiency of mouse Alox8 on chromosome 11B3 (homologous to human ALOX15B on chromosome 17p), contributes to the B cell malignancy. While the metabolites produced from lipoxygenase pathway reduced, chromosome 11B3 deletions or Alox8 loss, lead to upregulating its paralleling cyclooxygenase pathway, indicated by the increased levels of oncometabolite prostaglandin E2. Ectopic PGE2 prevented the apoptosis and differentiation of pre-B cells. Further studies revealed that Alox8 deficiency dramatically and specifically induced Cox-2(Ptgs2) gene expression. Repressing Cox-2 by its shRNAs impaired the tumorigenesis driven by Alox8 loss. And, in turn, tumor cells with Alox8 or 11B3 loss were sensitive to the COX-2 inhibitor celecoxib. This correlation between COX-2 upregulation and chromosome 17p deletions was consistent in human B-cell lymphomas. Hence, our studies reveal that the arachidonate metabolism abnormality with unbalanced ALOX and COX pathways underlies human cancers with 17p deletions and suggest new susceptibility for this disease.

18.
J Healthc Eng ; 2022: 4814577, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35463685

RESUMO

In order to compare magnetic resonance imaging (MRI) findings of patients with large vestibular aqueduct syndrome (LVAS) in the stable hearing loss (HL) group and the fluctuating HL group, this paper provides reference for clinicians' early intervention. From January 2001 to January 2016, patients with hearing impairment diagnosed as LVAS in infancy in the Department of Otorhinolaryngology, Head and Neck Surgery, Children's Hospital of Fudan University were collected and divided into the stable HL group (n = 29) and the fluctuating HL group (n = 30). MRI images at initial diagnosis were collected, and various deep learning neural network training models were established based on PyTorch to classify and predict the two series. Vgg16_bn, vgg19_bn, and ResNet18, convolutional neural networks (CNNs) with fewer layers, had favorable effects for model building, with accs of 0.9, 0.8, and 0.85, respectively. ResNet50, a CNN with multiple layers and an acc of 0.54, had relatively poor effects. The GoogLeNet-trained model performed best, with an acc of 0.98. We conclude that deep learning-based radiomics can assist doctors in accurately predicting LVAS patients to classify them into either fluctuating or stable HL types and adopt differentiated treatment methods.


Assuntos
Aprendizado Profundo , Aqueduto Vestibular , Doenças Vestibulares , Criança , Audição , Humanos , Prognóstico , Estudos Retrospectivos , Síndrome , Aqueduto Vestibular/diagnóstico por imagem , Doenças Vestibulares/diagnóstico
19.
Artigo em Zh | MEDLINE | ID: mdl-35511617

RESUMO

Objective:To disscuss the changes in indications, surgical opportunity and post-operative management of pediatric tracheotomy. Methods:Retrospective cohort study of pediatric patients undergoing tracheostomy between January 2016 and December 2020 at Children's Hospital of Fudan University. Ninety-five patients were divided into four groups according to their primary indication. Group A: neuromuscular disease(n=36, 37.9%), Group B: congenital abnormality(n=30, 31.6%), Group C: accidental injury(n=15, 15.8%), Group D: tumor(n=14, 14.7%). Results:By the comparison between four groups, children in group A had higher incidence of Severe pneumonia(47.2%), higher usage of mechanical ventilation(97.2%), longer hospitalization days(=84.9 days) and higher rate of Ventilator dependence(66.7%); children in group B had higher rate of emergency surgery(4.2%), lower age(median age 2 months) and lower usage of mechanical ventilation(30.0%); Mortality of the children in group D was the highest(42.9%). In the recent five years, we saw a increasing tendency in the proportion of group A(28.6%, 35.0%, 38.5%, 44.4%, 43.5%), and a decreasing tendency of group B(57.1%, 30.0%, 38.5%, 33.3%, 21.7%). On discharge, 50.5% of children(48 of 95)spontaneously breathe with the tracheos tomy in situ, 29.5% of children(28 of 95)had ventilator-dependence, tracheostomy decannulation was successful in 6.3% of children (6 of 95) and all-cause mortality was 13.7% (13 of 95). Conclusion:Most paediatric tracheotomies were performed due to chronic underlying diseases. Pediatric tracheostomy should be considered as a long-term intervention in many children. Earlier tracheotomy can shorten the duration of post-tracheotomy mechanical ventilation in several conditions.


Assuntos
Traqueostomia , Traqueotomia , Criança , Humanos , Incidência , Lactente , Respiração Artificial , Estudos Retrospectivos
20.
Am J Transl Res ; 14(7): 4728-4735, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35958478

RESUMO

OBJECTIVE: To investigate the diagnostic value of deep learning (DL) in differentiating otitis media (OM) caused by otitis media with effusion (OME) and primary ciliary dyskinesia (PCD), so as to provide reference for early intervention. METHODS: From January 2010 to January 2021, 31 patients with PCD who had temporal bone computed tomography (TBCT) in the Children's Hospital of Fudan University were retrospectively analyzed. Another 30 age-matched cases of OME with TBCT were collected as the control group. The CT imaging signatures of children were observed. Besides, a variety of DL neural network training models were established based on PyTorch, and the optimal models were trained and selected for PCD screening. RESULTS: The google net-trained model worked best, with an accuracy of 0.99. Vgg16_bn, vgg19_bn, resnet18, and resnet34; having neural networks with fewer layers, better model effects, with an accuracy rate of 0.86, 0.9, 0.86, and 0.86, respectively. Resnet50 and other neural networks with more layers had relatively poor results. CONCLUSION: DL-based CT radiomics can accurately distinguish OM caused by OME from that induced by PCD, which can be used for screening the PCD.

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