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Extramedullary plasmacytoma (EMP) of the larynx is an extremely rare plasma cell neoplasm outside of the bone marrow, which has not been previously well characterized. A case of laryngeal EMP who developed acute myeloid leukemia (AML) following treatment is described in the present study, as well as an extensive review of the relevant literature. An electronic literature search was performed in PubMed and all pertinent case reports and series in the English language from 1948-October 2017 were identified. A total of 99 cases including the present case were available for review. The mean age of the included patients was 53 years. Supraglottis was the most frequently involved site. The most common treatment modality was radiotherapy alone (n=41; 43%), followed by a combination of surgery and radiotherapy, then surgery alone. However, for cases published in recent years, the most common treatment modality was surgically based treatment. Overall the treatment outcome was favorable, as a total of 84% of patients were alive after a mean follow-up of 60 months. However, EMP outcomes for patients with cervical lymphadenopathy or multiple sites involvement were unfavorable with >40% of patients relapsing or developing metastasis during the limited follow-up period. A total of 6 subjects developed multiple myeloma and 1 patient converted to AML. The present study provides important insights on the treatment of EMP, which is a rare disease. To the best of our knowledge, this is the first case report of a patient with laryngeal EMP who developed AML following treatment. It is recommended that secondary myeloid neoplasm should be considered besides multiple myeloma during the follow-up period.

Objectives: To characterize the epithelial-mesenchymal transition (EMT) in chronic rhinosinusitis with nasal polyps (CRSwNP) and to investigate the mechanism by which microRNA-21 (miR-21) regulates EMT in CRSwNP. Method: (1) Tissue experiments: Mucosa tissues were collected from 13 patients with CRSwNP and 12 patients with CRS without nasal polyps (CRSsNP), as well as 11 patients without CRS (controls). Protein localization and quantification were achieved by immunofluorescence staining and Western blotting, involving the epithelial marker protein E-cadherin and the mesenchymal marker proteins α-smooth muscle actin (α-SMA), fibronectin, and vimentin. Quantitative RT-PCR was used to detect the relative expression levels of miR-21 and TGF-β1 mRNAs. (2) Cellular experiments: Primary human nasal epithelial cells (PHNECs) treated with TGF-β1, or TGF-β1 with miR-21 inhibitor, or miR-21 mimics alone were observed for morphology changes under a phase-contrast microscope. The expression levels of epithelial/mesenchymal marker proteins were determined as aforementioned. PTEN and phosphorylated Akt were detected by Western blotting. Results: (1) Tissue experiments: Compared with the CRSsNP and control groups, the expression of E-cadherin was downregulated in the CRSwNP group, whereas the expression of TGF-β1, α-SMA, fibronectin, and vimentin was upregulated. The expression levels of miR-21 and TGF-β1 mRNAs in CRSwNP were significantly higher than those in CRSsNP and controls. (2) Cellular experiments: TGF-β1 induced EMT-like transformation in PHNECs, featured by changes in cell morphology and upregulation of mesenchymal proteins and miR-21. The miR-21 inhibitor, as well as the Akt-specific ­inhibitor, suppressed TGF-β1-induced EMT. Mechanically, downregulation of miR-21 resulted in increased PTEN and decreased Akt phosphorylation. Furthermore, overexpression of miR-21 had the opposite effects. Conclusions: Our findings suggest that the TGF-β1-miR-21-PTEN-Akt axis may contribute to the pathogenesis of CRSwNP. miR-21 might be a reliable target for treating nasal polyp genesis through EMT suppression. Moreover, miR-21 inhibitors could be a novel class of antipolyp drug that modulates PTEN expression and Akt activation. In addition, further investigation regarding the reason underlying miR-21 overexpression in CRSwNP could provide a molecular target for novel treatment strategies for nasal polyposis.

Taurine is a sulfur-containing amino acid present in high concentrations in mammalian tissues, and has been implicated in several processes involving brain development and neurotransmission. However, the role of taurine in inner ear neural development is still largely unknown. Here we report that taurine enhanced the viability and proliferation of in vitro mouse cochlear neural stem cell culture, as well as improved neurite outgrowth. Moreover, prolonged taurine treatment also increased the neural electrical activity by escalating changes of intracellular calcium concentration, the number of spontaneous Ca(2+) oscillations in cells, and the frequencies of Ca(2+) spikes. Most importantly, we found that this escalated neural excitability by taurine was due to combined effect of increase in the population of excitatory glutamatergic neuron and decrease in inhibitory GABAergic neuron population. This is the first report on the effect of taurine to selectively promote neural stem cell differentiation by altering neuron type commitment. Our study has supported the potential of taurine as treatment against hearing loss caused by neuron degeneration, or even as an agent to improve sensitivity of hearing by increasing overall excitability of auditory nervous system.

The present study aimed to investigate the molecular pathology of Waardenburg syndrome type II in three families, in order to provide genetic diagnosis and hereditary counseling for family members. Relevant clinical examinations were conducted on the probands of the three pedigrees. Peripheral blood samples of the probands and related family members were collected and genomic DNA was extracted. The coding sequences of paired box 3 (PAX3), microphthalmia‑associated transcription factor (MITF), sex‑determining region Y‑box 10 (SOX10) and snail family zinc finger 2 (SNAI2) were analyzed by polymerase chain reaction and DNA sequencing. The heterozygous mutation, c.649_651delAGA in exon 7 of the MITF gene was detected in the proband and all patients of pedigree 1; however, no pathological mutation of the relevant genes (MITF, SNAI2, SOX10 or PAX3) was detected in pedigrees 2 and 3. The heterozygous mutation c.649_651delAGA in exon 7 of the MITF gene is therefore considered the disease‑causing mutation in pedigree 1. However, there are novel disease‑causing genes in Waardenburg syndrome type II, which require further research.

Background: Previous studies have shown that BMP4 may play an important part in the development of auditory neurons (ANs), which are degenerated in sensorineural hearing loss. However, whether BMP4 can promote sensory fate specification from mesenchymal stromal cells (MSCs) is unknown so far. Methods: MSCs isolated from Sprague-Dawley (SD) rats were confirmed by expression of MSC markers using flow cytometry and adipogenesis/osteogenesis using differentiation assays. MSCs treated with a complex of neurotrophic factors (BMP4 group and non-BMP4 group) were induced into auditory neuron-like cells, then the differences between the two groups were analyzed in morphological observation, cell growth curve, qRT-PCR, and immunofluorescence. Results: Flow cytometric analysis showed that the isolated cells expressed typical MSC surface markers. After adipogenic and osteogenic induction, the cells were stained by oil red O and Alizarin Red. The neuronal induced cells were in the growth plateau and had special forms of neurons. In the presence of BMP4, the inner ear genes NF-M, Neurog1, GluR4, NeuroD, Calretinin, NeuN, Tau, and GATA3 were up-regulated in MSCs. Conclusions: MSCs have the capacity to differentiate into auditory neuron-like cells in vitro. As an effective inducer, BMP4 may play a key role in transdifferentiation.

To explore the clinical characteristics and therapies for esophageal perforation complicated with lethal massive hemorrhage caused by esophageal foreign body.To retrospective analysis the treatment of massive hemorrhage at the carotid artery or aorta caused by esophageal foreign body in forty seven patients, Foreign body characters, surgical approaches, and postsurgical management were summarized.Among 24 patients with cervical esophageal foreign body, the object was removed either by esophagoscopy or through lateral cervical incision. After controlling carotid artery hemorrhage and repairing Fistula of artery from cervical incision, 19 patients survived. For the 23 patients with thoracic esophageal foreign body accompanied with aorta hemorrhea, thoracotomy was performed to remove the foreign body and repair the aortic fistula. Only 3 of these 23 patients recovered from the emergent surgery, other 20 patients died.For the patients with esophageal foreign body inducing large vessel impingement, the most reliable therapeutic method is surgical repairing of arterial perforation and extraction of the foreign body via cervical or thoracic incision. Carotid ligation should be considered in patients with recurrent carotid hemorrhage. For the patient with mediastinitis, esophageal exclusion is recommended to prevent infection and to promote healing of aortic perforation after aortic fistula repairing.

To review the clinical manifestations and management of nasal sinus mucoceles with visual loss.Medical records for 23 patients of paranasal sinus mucoceles with visual impairment were re viewed retrospectively during 8-year period (from 2002 to 2010). Ten mucoceles were found in the frontal or fronto-ethmoidal sinuses, 6 in the ethmoidal sinuses, 7 in the sphenoidal or spheno-ethmoidal sinuses. Because the majority of early chief complaints were problems related to vision, patients were often seen by ophthalmologists first. Poor vision was more common in patients with sphenoid or spheno-ethmoidal sinus mucoceles because of their proximity to the optic nerve. CT and MRI were important tools for diagnosing nasal sinus mucocele. The patients received endoscopic surgery to remove mucocele and to decompress the optic nerve. Steroid therapy was given postoperatively and routine examination with endoscopy were carried out during follow-up.Postoperatively, the majority of symptoms, such as exophthalmos, epiphora, diplopia and headache, disappeared in all patients. However, vision recovery was observed only in some patients. Recovery of vision depended on the timing of surgery and severity of initial visual loss. Delay in treatment can seriously compromise recovery of vision impairment. Moreover, patients without light perception before surgery had poor visual recovery even if optic nerve decompressions were performed.Endoscopic surgery is effective to nasal sinus mucocele with visual loss. Because visual recovery depends on prompt diagnosis and surgical intervention, a good understanding of the disease and prompt imaging studies are important.

Hearing loss (HL) is one of the most widespread sensory disorders, affecting approximately 1 in 500 newborns. Heritable diseases of the inner ear are the leading causes of prelingual HL. Treating of hereditary HL and understanding its underlying mechanisms remain difficult challenges to otolaryngologists. As stem cells are capable of self-renewal and differentiation, they are ideally suited both for disease modeling and regenerative medicine. Recently, description of induced pluripotent stem cells (iPSCs) has allowed the field of disease modeling and personalized therapy to become far more accessible and physiologically relevant, as iPSCs can be generated from patients of any genetic background. This review briefly describes the advantages of iPSCs technology and discusses potential applications of this powerful biological tool in studying and treating hereditary HL.