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1.
World J Otorhinolaryngol Head Neck Surg ; 10(2): 113-120, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38855290

RESUMEN

Objective: This cross-sectional study aimed to determine the epidemiology of olfactory and gustatory dysfunctions related to COVID-19 in China. Methods: This study was conducted by 45 tertiary Grade-A hospitals in China. Online and offline questionnaire data were obtained from patients infected with COVID-19 between December 28, 2022, and February 21, 2023. The collected information included basic demographics, medical history, smoking and drinking history, vaccination history, changes in olfactory and gustatory functions before and after infection, and other postinfection symptoms, as well as the duration and improvement status of olfactory and gustatory disorders. Results: Complete questionnaires were obtained from 35,566 subjects. The overall incidence of olfactory and taste dysfunction was 67.75%. Being female or being a cigarette smoker increased the likelihood of developing olfactory and taste dysfunction. Having received four doses of the vaccine or having good oral health or being a alcohol drinker decreased the risk of such dysfunction. Before infection, the average olfactory and taste VAS scores were 8.41 and 8.51, respectively; after infection, they decreased to 3.69 and 4.29 and recovered to 5.83 and 6.55 by the time of the survey. The median duration of dysosmia and dysgeusia was 15 and 12 days, respectively, with 0.5% of patients having symptoms lasting for more than 28 days. The overall self-reported improvement rate was 59.16%. Recovery was higher in males, never smokers, those who received two or three vaccine doses, and those that had never experienced dental health issues, or chronic accompanying symptoms. Conclusions: The incidence of dysosmia and dysgeusia following infection with the SARS-CoV-2 virus is high in China. Incidence and prognosis are influenced by several factors, including sex, SARS-CoV-2 vaccination, history of head-facial trauma, nasal and oral health status, smoking and drinking history, and the persistence of accompanying symptoms.

2.
Int J Pediatr Otorhinolaryngol ; 181: 111979, 2024 May 09.
Artículo en Inglés | MEDLINE | ID: mdl-38739980

RESUMEN

BACKGROUND: Maternally inherited hearing loss has been associated with mitochondrial genes, including MT-RNR1, MT-TL1, MT-TS1, MT-TK and MT-TE. Among these genes, MT-RNR1 is known to be a hotspot for pathogenic variants related to aminoglycoside ototoxicity and nonsyndromic hearing loss. However, the frequency and spectrum of variants in these genes, particularly in multi-ethnic hearing loss patients from Southwestern China, are still not fully understood. METHODS: In this study, we enrolled 460 hearing loss patients from various ethnic backgrounds (Han, Yi, Dai, Hani, etc.) in Southwestern China. Next-generation sequencing was used to analyze the mitochondrial MT-RNR1, MT-TL1, MT-TS1, MT-TK and MT-TE genes. Subsequently, bioinformatical methods were employed to evaluate the identified variants. RESULTS: Among the patients with hearing loss, we identified 70 variants in MT-RNR1 (78.6 %, 55/70), MT-TL1 (4.3 %, 3/70), MT-TS1 (4.3 %, 3/70), MT-TK (7.1 %, 5/70) and MT-TE (5.7 %, 4/70) genes. We found that 15 variants were associated with hearing loss, including m.1555 A > G and m.1095 T > C. Additionally, we discovered three reported mitochondrial variants (m.676 G > A, m.7465 insC, and m.7474 A > G) newly correlated with hearing loss. Notably, certain pathogenic variants, such as m.1555 A > G, displayed non-consistent distributions among the multi-ethnic patients with hearing loss. Furthermore, the number of variants associated with hearing loss was higher in the Sinitic group (n = 181) and Tibeto-Burman group (n = 215) compared to the Kra-Dai group (n = 38) and Hmong-Mien group (n = 26). CONCLUSIONS: This present study revealed the distribution of mitochondrial variants linked to hearing loss across various ethnic groups in Southwestern China. These data suggest a potential correlation between the distribution of mitochondrial variants associated with hearing loss and ethnic genetic backgrounds.

3.
Mol Genet Genomic Med ; 9(4): e1660, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-33724713

RESUMEN

BACKGROUND: Targeted next-generation sequencing is an efficient tool to identify pathogenic mutations of hereditary deafness. The molecular pathology of deaf patients in southwestern China is not fully understood. METHODS: In this study, targeted next-generation sequencing of 127 deafness genes was performed on 84 deaf patients. They were not caused by common mutations of GJB2 gene, including c.35delG, c.109 G>A, c.167delT, c.176_191del16, c.235delC and c.299_300delAT. RESULTS: In the cohorts of 84 deaf patients, we did not find any candidate pathogenic variants in 14 deaf patients (16.7%, 14/84). In other 70 deaf patients (83.3%, 70/84), candidate pathogenic variants were identified in 34 genes. Of these 70 deaf patients, the percentage of "Solved" and "Unsolved" patients was 51.43% (36/70) and 48.57% (34/70), respectively. The most common causative genes were SLC26A4 (12.9%, 9/70), MT-RNR1 (11.4%, 8/70), and MYO7A (2.9%, 2/70) in deaf patients. In "Unsolved" patients, possible pathogenic variants were most found in SLC26A4 (8.9%, 3/34), MYO7A (5.9%, 2/34), OTOF (5.9%, 2/34), and PDZD7 (5.9%, 2/34) genes. Interesting, several novel recessive pathogenic variants were identified, like SLC26A4 c.290T>G, SLC26A4 c.599A>G, PDZD7c.490 C>T, etc. CONCLUSION: In addition to common deafness genes, like GJB2, SLC26A4, and MT-RNR1 genes, other deafness genes (MYO7A, OTOF, PDZD7, etc.) were identified in deaf patients from southwestern China. Therefore, the spectrum of deafness genes in this area should be further studied.


Asunto(s)
Pérdida Auditiva Sensorineural/genética , Proteínas Portadoras/genética , China , Conexina 26/genética , Heterogeneidad Genética , Secuenciación de Nucleótidos de Alto Rendimiento/estadística & datos numéricos , Humanos , Proteínas de la Membrana/genética , Miosina VIIa/genética , Transportadores de Sulfato/genética
4.
Electron. j. biotechnol ; 50: 59-67, Mar. 2021. ilus, graf, tab
Artículo en Inglés | LILACS | ID: biblio-1292412

RESUMEN

BACKGROUND: Cross talk of tumor­immune cells at the gene expression level has been an area of intense research. However, it is largely unknown at the alternative splicing level which has been found to play important roles in the tumor­immune microenvironment. RESULTS: Here, we re-exploited one transcriptomic dataset to gain insight into tumor­immune interactions from the point of AS level. Our results showed that the AS profiles of triple-negative breast cancer cells co-cultured with activated T cells were significantly changed but not Estrogen receptor positive cells. We further suggested that the alteration in AS profiles in triple-negative breast cancer cells was largely caused by activated T cells rather than paracrine factors from activated T cells. Biological pathway analyses showed that translation initiation and tRNA aminoacylation pathways were most disturbed with T cell treatment. We also established an approach largely based on the AS factor­AS events associations and identified LSM7, an alternative splicing factor, may be responsible for the major altered events. CONCLUSIONS: Our study reveals the notable differences of response to T cells among breast cancer types which may facilitate the development or improvement of tumor immunotherapy.


Asunto(s)
Linfocitos T , Neoplasias de la Mama Triple Negativas , Iniciación de la Cadena Peptídica Traduccional , Expresión Génica , Empalme Alternativo , Técnicas de Cultivo de Célula , Receptor Cross-Talk , Aminoacilación de ARN de Transferencia , Transcriptoma , Inmunoterapia
5.
Ann Palliat Med ; 8(5): 604-610, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31735046

RESUMEN

BACKGROUND: The cause of sudden sensorineural hearing loss (SSNHL) is still unknown. Literature has indicated that there is a statistically significant correlation between hyperhomocysteinemia and SSNHL, yet there is lack of study in the relationship concerning total frequency deafness subtype of SSNHL. This study investigated the relationship between plasma concentration of homocysteine (Hcy), serum concentration of folic acid and occurrence and treatment responding in total frequency deafness adult patients, and explored whether targeted early intervention was associated with improved clinical outcome in this subgroup. METHODS: A total of 54 consecutive adult patients with diagnosis of sudden total frequency deafness in a single institution was enrolled into the study group. Two control groups were established. Control group 1 was derived from inpatients with normal listening comprehension. Control group 2 included 52 patients with sudden total frequency deafness treated in a parallel hospital. Blood concentration of folic acid and Hcy was investigated. Treatment included Ginkgo biloba extract, dexamethasone, hyperbaric oxygen, folic acid, vitamin B6, and optional vitamin B12. All data was statistically analyzed. Blood level of Hcy and folic acid was compared between study group and control group 1. RESULTS: Although there was no clear evidence for the divergence trend of Hcy and folic acid levels individually, the results showed that the study group had higher blood level of Hcy and lower blood level of folic acid, than control group. In the study group, 24 patients (44.44%) demonstrated treatment effectiveness after the 2-week treatment course. Patients without vertigo had higher effective rate than patients with vertigo (P<0.05). CONCLUSIONS: Effective rate of study group was higher than control group 2 which had no folic acid and vitamin B6/B12 supplement. High blood Hcy and low blood folic acid were closely associated in patients with sudden total frequency deafness. The currently accepted concept of treatment for sudden total frequency deafness is not essentially satisfactory. Testing of plasma Hcy and serum folic acid may provide referential value for its treatment and prognosis evaluation.


Asunto(s)
Sordera/sangre , Ácido Fólico/sangre , Homocisteína/sangre , Adulto , Femenino , Ácido Fólico/uso terapéutico , Humanos , Masculino , Persona de Mediana Edad , Valores de Referencia , Resultado del Tratamiento
6.
Lin Chuang Er Bi Yan Hou Ke Za Zhi ; 19(11): 488-9, 2005 Jun.
Artículo en Chino | MEDLINE | ID: mdl-16124642

RESUMEN

OBJECTIVE: To explore the surgery way on sinusitis with nasopharyngeal carcinoma (NPC) caused by radiotherapy and the relative factors. METHOD: Forty-five cases of NPC patients with sinusitis caused by radiotherapy were treated by endoscopic sinus surgery in our department from 1998 to 2003. There were 24 males and 21 females, ranging in age from 34 to 45 years old. The clinical data of the patients were analysed retrospectively. RESULT: All the patients were followed up for a period of 1 to 4 years after operation. 22 cases (48.9%) were cured, 18 cases (40%) were improved, but the other 5 cases (11.1%) were no effective. No serious complications and tumor recurrence occurred. CONCLUSION: The incidence of sinusitis in patients with NPC after radiotherapy is very high which interferes the effect of radiotherapy on NPC. Endoscopic sinus surgery is an effective method to open sinus ostium. It is feasible and favorable.


Asunto(s)
Endoscopía , Radioterapia/efectos adversos , Sinusitis/etiología , Sinusitis/cirugía , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasias Nasofaríngeas/radioterapia , Estudios Retrospectivos
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