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Background: The noggin protein encoded by the NOG gene can interfere with the binding of bone morphogenetic protein to its receptor, thus affecting bone and joint development. The symptoms include abnormal skeletal development and conductive deafness. Methods: In a retrospective study, clinical data of the proband and her family members, including 8 people and 50 healthy normal controls, were collected. Second-generation sequencing was performed on peripheral blood samples from them. Results: The sequencing analysis indicated that in the proband, the NOG gene had a c.532T > C, p.C178R (cytosine deletion, NM_005450.6:c.532T > C), leading to an amino acid change. The proband's father, grandmother, second sister, and third sister also had this mutation, whereas family members with normal phenotypes did not have the mutation. Conclusion: Analysis of this family showed that the novel presentation of the c.532T > C, p.C178R mutation in the NOG gene resulted in syndrome-type autosomal dominant inheritance reflected in a mild clinical phenotype, which is of great importance for further studies of the clinical phenotype and pathogenesis of stapes sclerosis. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study is to create a nomogram for accurately predicting the prognosis of idiopathic sudden sensorineural hearing loss (ISSNHL) and provide a reference for clinical treatment. Methods: Three hundred and twenty-three patients with ISSNHL were admitted from September 2014 to November 2020. The clinical data were retrospectively reviewed. Prognostic factors for ISSNHL were assessed based on univariate and multivariate logistic regression analysis and used to create a nomogram. Nomogram performance in terms of predictive and discriminatory ability was evaluated by calculating the concordance index (C-index) and generating calibration plots. Results: The overall hearing improvement rate was 41.4%, comprising complete recovery (13.3%), marked recovery (17.0%), and slight recovery (11.1%). Multivariate logistic regression analysis showed that age, symptoms of vertigo, interval between onset and treatment, low-density lipoprotein, and type of hearing loss were independent predictors of ISSNHL. A nomogram based on these 5 factors had a C index of 0.798 (95% confidence interval 0.750-0.845). Conclusions: Age, vertigo, interval between onset and treatment, low-density lipoprotein level, and type of hearing loss are closely associated with hearing recovery. The nomogram may enable prediction of the prognosis of ISSNHL and facilitate clinical decision-making. [ABSTRACT FROM AUTHOR]

Vestibular compensation is the natural process of recovery that occurs with acute peripheral vestibular lesion. Here, we summarize the current understanding of the mechanisms underlying vestibular compensation, focusing on the role of the medial vestibular nucleus (MVN), the central hub of the vestibular system, and its associated neural networks. The disruption of neural activity balance between the bilateral MVNs underlies the vestibular symptoms after unilateral vestibular damage, and this balance disruption can be partially reversed by the mutual inhibitory projections between the bilateral MVNs, and their top‐down regulation by other brain regions via different neurotransmitters. However, the detailed mechanism of how MVN is involved in vestibular compensation and regulated remains largely unknown. A deeper understanding of the vestibular neural network and the neurotransmitter systems involved in vestibular compensation holds promise for improving treatment outcomes and developing more effective interventions for vestibular disorders. [ABSTRACT FROM AUTHOR]

Purpose: To report an interstitial deletion of Xq21.1 in chromosome X in a boy with congenital deafness. Methods: The proband underwent a thorough physical examination and a detailed audiological and temporal bone computed tomography (CT) scan. Cochlear implantation was performed on the proband, and follow‐up was conducted. High throughput sequencing and copy number analysis was made of peripheral blood samples from the proband, family members, and control subjects. Results: Sensorineural hearing loss was present in the boy and temporal bone CT scan showed a bilateral incomplete partition type III anomaly (IP‐III). Q21.1 (79.40–83.32 Mb) of chromosome X in the proband had a copy number deletion with a fragment size of about 3.92 Mb. Categories of auditory performance scores and SIR scores of the cochlea in this child improved after surgery. Conclusion: Through the analysis of POU3F4, a novel mutation site with potentially pathogenic significance was found. Level of Evidence: 5. [ABSTRACT FROM AUTHOR]

Objective: Epistaxis after radiotherapy for nasopharyngeal carcinoma (NPC) is a common clinical critical illness, which often leads to death of patients. This article focuses on the relationship between massive epistaxis and pseudoaneurysm after radiotherapy in patients with NPC and discusses clinically relevant treatment strategies. Methods: A review was performed in 21 patients with massive epistaxis after radiotherapy for NPC from January 2011 to December 2019, and all of the patients were examined by computed tomography angiography (CTA). We also reviewed the English literature over the past 10 years to analyze the characteristics and related causes of pseudoaneurysms in terms of the clinical stage of NPC, course of radiotherapy, and affected artery. An analysis was performed on the methods of endovascular interventional treatment of such pseudoaneurysms. Results: Among the 21 patients, 19 cases had bone destruction of the skull base; 13 cases were also found to have tumor recurrence; 15 cases were in stage III or IV of NPC; pseudoaneurysms were observed in 14 cases, of which nine cases had pseudoaneurysms in the internal carotid artery (ICA), and the rest had pseudoaneurysms in the external carotid artery (ECA). These data were consistent with the results of the literature review. Analysis with imaging revealed that the petrous ICA was the common predilection site. There were 11 out of 14 cases of pseudoaneurysms with sentinel hemorrhage in the initial phase. All 14 pseudoaneurysm patients underwent endovascular interventional therapy, but one died from hemorrhagic shock during the procedure. No rebleeding was observed among the other patients during 72 h after intravascular treatment. Nevertheless, regrettably two patients died on the 10th and 17th days after intervention. Conclusion: Pseudoaneurysm, which was a serious complication after radiotherapy in patients with NPC, could cause massive epistaxis with high mortality. The formation of a pseudoaneurysm was closely associated with a high carcinoma stage, re-radiotherapy, and local bone destruction and infection. Most cases had sentinel epistaxis, which was considered the bleeding characteristic. The imaging material prompted that pseudoaneurysm had a predisposition to the petrous part of the ICA, while the preferred therapy was endovascular embolization treatment. [ABSTRACT FROM AUTHOR]

Background: In recent years, the incidence rate of Thyroid carcinoma (TC) has been increasing worldwide. Thus, research on factors of TC carcinogenesis may promote TC prevention and decrease the incidence rate. There are several studies targeting the correlation between gut microbiota and thyroid disease. Carcinogenesis of several malignancies is influenced by microbiota. However, thyroid microbiome of TC has not been revealed. This study investigated thyroid microbiota in different TC microhabitats.Methods: We performed 16s rRNA gene sequencing using tumor tissues and matched peritumor tissues from 30 patients with TC to characterize thyroid microbiota.Results: The richness and diversity of thyroid microbiota were lower in TC tumor samples than in matched peritumor tissues. At the genus level, the core microbiota of thyroid included Sphingomonas, Comamonas, Acinetobacter, Pseudomonas, Microvirgula, and Soonwooa. The abundance of Sphingomonas and Aeromonas was significantly increased in tumor tissues, while the abundance of Comamonas, Acinetobacter, and Peptostreptococcus was significantly enhanced in peritumor tissues. The combination of Comamonas and Sphingomonas could discriminate tumor samples from peritumor samples with an area under the curve (AUC) of 0.981 (95% confidence interval [CI] 0.949-1.000). The abundance of Sphingomonas was significantly higher in N1 stage than in N0 stage. Sphingomonas could distinguish between N0 and N1 stage with an AUC of 0.964 (95% CI 0.907-1.000).Conclusions: The microbial diversity and composition were significantly different between peritumor and tumor microhabitats from patients with TC, which may eventually affect TC carcinogenesis and progression. The combination of Comamonas and Sphingomonas could serve as a powerful biomarker for discrimination between tumor and peritumor tissues. Furthermore, the higher abundance of Sphingomonas was correlated with lymph node metastasis, indicating that the abundance of Sphingomonas may indicate a poor prognosis for TC patients, and Sphingomonas may play a role in promoting TC progression. [ABSTRACT FROM AUTHOR]

Introduction: Sleep-disordered breathing (SDB) is associated with atherosclerosis. Peripheral arterial disease (PAD) is a manifestation of atherosclerosis in lower extremity arteries. No systematic review addressing the relationship between PAD and SDB was found. We performed this study aimed to summarize the relationship between SDB and PAD described in current clinical studies. Material and Methods: PubMed and Embase electronic databases were searched for clinical articles (published before 3 April, 2019) describing studies that evaluated the association between SDB and PAD. We showed the results involved in the association in clinical studies. Results: In total, 8 clinical studies have been included, and most of them were cross-sectional studies. Six articles demonstrated the coexistence of SDB and PAD, evidenced by high prevalence of SDB in patients with PAD and vice versa. Meanwhile, the included studies exhibited independent positive associations between SDB or sleep parameters and PAD after adjusting for multiple confounders. Conclusion: From present clinical prospective, positive association between SDB and PAD was shown. More prospective, randomized controlled studies are needed to establish the cause–effect relationships involved. [ABSTRACT FROM AUTHOR]

Conclusion: Mouse-induced pluripotent stem cells (iPSCs) could differentiate into hair cell-like cells and spiral ganglion-like cells after transplantation into mouse cochleae, but it cannot improve the auditory brain response (ABR) thresholds in short term. Objective: To evaluate the potential of iPSCs for use as a source of transplants for the treatment of sensorineural hearing loss (SNHL). Methods: Establishing SNHL mice model, then injecting the iPSCs or equal volume DMEM basic medium into the cochleae, respectively. Immunofluorescence staining and reverse transcriptionpolymerase chain reaction (RT-PCR) were used to assess the survival, migration, differentiation of the transplanted iPSCs in cochleae and then recorded the ABR threshold in different time. Hematoxylin--eosin (HE) staining was used to observe the teratoma formation. Results: Four weeks after transplantation, CM-Di1-labeled iPSCs could be found in the modiolus and Rosenthal's canal (RC), and some of them could expressed auditory hair cell markers or spiral ganglion neuron makers in group A, but not found in group B and C. As to the ABR threshold, no significance differences were found between pre- with postoperative in group A or B. In our study, no teratoma was observed in the cochleae. [ABSTRACT FROM AUTHOR]

To investigate the effect and mechanism of Pou4f3 gene mutation on pyroptosis in cochleae of cisplatin-induced deafness mice. Methods: Mice were intraperitoneally injected with cisplatin to construct an animal model of deafness, and sh-Pou4f3 and mutant vector were injected to alter gene expression. TUNEL staining was used to assess the apoptosis level of cochlear hair cells, ELISA was used to detect the secretion of inflammatory factors, and immunofluorescence and Western Blot were used to detect the expression of pyroptosis related factors. Results: Cisplatin induced pyroptosis through NLRP3/Caspase-3/GSDME pathway and significantly down-regulated Pou4f3 level. Pou4f3 mutations promote cochlear hair cell pyroptosis by activating the NLRP3/Caspase-3/GSDME pathway. Knockdown of Pou4f3 can superimpose cisplatin treatment to induce pyroptosis of cochlear hair cells through NLRP3/Caspase-3/GSDME pathway. Conclusion: Pou4f3 gene mutation promotes pyroptosis of cochleae in cisplatin-induced deafness mice through NLRP3/Caspase-3/GSDME pathway. [ABSTRACT FROM AUTHOR]

Conclusion: Neonatal olfactory ensheathing cells conditioned medium (OEC-CM) can promote growth and proliferation of neonatal spiral ganglion cells (SGCs), as well as protecting them from apoptosis. Objective: To investigate the effects of neonatal OEC-CM on the survival, apoptosis, and proliferation of spiral ganglion. Methods: SGCs were cultured with OEC-CM, the conditioned medium from olfactory nerve fibroblasts (ONF-CM) or control medium containing 10% serum (DF12-10S). After different periods of culture, the cell types present were identified by immunofluorescent confocal imaging analysis, cell proliferation was determined by BrdU incorporation, and apoptosis was detected with the double-labeled NeuroTACS in situ Apoptosis Detection Kit. Results: SGCs cultured with regular control medium died off via apoptosis. Culturing cells with ONF-CM had no significant effects on the natural process of survival and apoptosis of SGCs. However, culture with OEC-CM significantly increased survival and decreased the apoptotic percentage of SGCs. In addition, OEC-CM temporarily stimulated the proliferative capacity of SGCs on the third day of culture. [ABSTRACT FROM AUTHOR]

Conclusion. Endolymphatic sac tumors (ELSTs) are locally invasive, osteolytic, and hypervascular tumors. If the labyrinth has not been invaded, the hearing should be preserved in operation. Objective. To summarize three cases of ELST and discuss whether to keep hearing in the surgical treatment of ELST. Subjects and methods. Complete otorhinolaryngological examinations with audiologic, vestibular, and neurologic evaluations were performed. CT and MRI scans were carried out before operation and in the course of follow-up. The patients underwent radical removal of the tumor through a transmastoid approach and accepted postoperative radiotherapy. In two of them, the structure of the labyrinth and facial nerve were preserved in operation. Results. Histopathologic examinations agreed with features of an ELST. Patients suffered transitory vertigo shortly after operation, and so far, they are alive and well without further cranial nerve involvement. Case 3 patient has good hearing and facial nerve function now. No residual or recurrent tumor was detected on the postoperative MRI images. [ABSTRACT FROM AUTHOR]

The objective of this study was to investigate macrophage polarization during the early stages of secondary Echinococcus granulosus sensu lato (E. granulosus s.l.) infection. We observed an early initial increase in inflammatory genes (peaking at 5‐10 days) and a later rise in M (IL‐4)‐like genes (still rising by day 15). In addition, we showed that the induction of M (IL‐4)‐like genes was paralleled by an increase in expression of the transcription factor KLF4. Most of the changes observed in vivo were reproduced in vitro upon the culture of normal peritoneal macrophages with live E. granulosus s.l. protoscoleces (PSC), and that knockdown of KLF4 in this system attenuates M (IL‐4) differentiation. Our results suggest that KLF4 pathway contributes to the differentiation of macrophages towards M (IL‐4)‐like phenotype during early stages of secondary E. granulosus s.l. infection. [ABSTRACT FROM AUTHOR]