Prognostic value of hypothyroidism in patients undergoing intensity-modulated radiation therapy for nasopharyngeal carcinoma.

BACKGROUND: The purpose of this study was to investigate the effect of hypothyroidism and thyroxine replacement therapy on the prognosis of nasopharyngeal carcinoma (NPC) patients. METHODS: The clinical data of 284 NPC patients, who received intensity-modulated radiation therapy (IMRT) between January 2011 and December 2016, were retrospectively analyzed. RESULTS: Hypothyroidism occurred in 38% of patients. Patients with hypothyroidism had significantly better disease-free survival (DFS) (p = 0.002) and relapse-free survival (RFS) (p = 0.008). Multivariate analysis showed that hypothyroidism was a positive independent prognostic factor (DFS and RFS). Among the patients with hypothyroidism, thyroxine replacement therapy did not yield inferior survival (DFS, RFS, all p > 0.05). CONCLUSIONS: The NPC patients with complete response are at risk of hypothyroidism, which is attributable to escalating dose. These patients experienced clinical hypothyroidism could be adequately treated with thyroid hormone replacement. Further investigation of the underlying biological mechanism and potential therapeutic implications are required.

[Identification of novel pathogenic variants of TRIOBP gene in a pedigree affected with non-syndromic deafness].

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with non-syndromic hearing loss (NSHL). METHODS: Commercialized gene chip was applied to detect common mutations associated with congenital deafness. Whole exome sequencing was carried out for patients for whom gene chip yielded a negative result. Candidate variants were verified by Sanger sequencing. RESULTS: Two patients from the pedigree were discovered to carry compound heterozygous variants of the TRIOBP gene, namely c.3299C>A and c.5185-2A>G. Their parents had normal hearing and were both heterozygous carriers of the above variants. Both variants had co-segregated with the disease phenotype in the pedigree and were unreported previously. CONCLUSION: Pathogenic variants of the TRIOBP gene comprise an important factor for NSHL. The novel c.5185-2A>G and c.3299C>A variants discovered in this study have enriched the mutational spectrum of the TRIOBP gene and enabled molecular diagnosis and genetic counseling for the family.

[Exploration of the correlation between allergic rhinitis and weather factors in Nanning].

Objective:To investigate the characteristics of allergic rhinitis（AR） in the Nanning area and its correlation with meteorological factors. Methods:The characteristics of 16 969 cases of AR in Nanning from May 2011 to June 2018 were analyzed. Meteorological parameters were collected from the official website of the Nanning Meteorological Bureau, including weather conditions, temperature, and wind direction. The relationship between the onset characteristics of AR patients and meteorological factors were also analyzed. Results:Among the 16 969 patients with AR, the top three inhalation allergens were dust mite（56.0%）, house dust mite（50.5%）, and cockroach（37.4%）. The skin index（SI） of dust mite, house dust mite, cockroach is correlated with sex. The SI of dust mite, house dust mite, mugwort, cockroach are correlated with age, and inhaled allergens are correlated with disease course（P<0.05）. However, those relationships were not significant（r<0.2）. The proportion of AR patients visiting the clinic in summer was the highest（3.9%） in all of the four seasons. Gender was found to be related to the grade-4 positive results of dust mite（OR=0.826, 95%CI: 0.724-0.942）, the grade-4 house dust mite（OR=0.777, 95%CI: 0.677-0.891） and the grade-3 positive results of cockroach（OR=1.236, 95%CI: 1.060-1.443）, respectively. The the daytime weather conditions were related to the grade-4 positive results of dust mite（OR=0.830, 95%CI: 0.728-0.947） and the grade 1 positive results of house dust mite（OR=0.803, 95%CI: 0.694-0.929）, respectively. The highest temperature was related to the grade-4 positive result of dust mite（OR=1.032, 95%CI: 1.020-1.043）, grade-1（OR=1.028, 95%CI: 1.001-1.056） and grade-4 （OR=1.047, 95%CI: 1.021-1.075） positive result of house dust mite, grade 1（OR=1.023, 95%CI: 1.001-1.047） and grade-4（OR=1.050, 95%CI: 1.008-1.094） positive result of cockroach, respectively. The minimum temperature was related to the positive results of house dust mites at all grades and the grade-1 positive results of cockroach（OR=0.947, 95%CI: 0.924-0.971）, but not to dust mites. The daytime wind direction was related to the grade-3 positive results of cockroach（OR=1.437, 95%CI: 1.157-1.785）. Conclusion:The number of AR patients in Nanning is highest in summer. The female is more likely to suffer from dust mite and house dust mite, while the male is more likely to suffer from cockroach. Meteorological factors are correlated with the incidence of AR.The highertemperature, the rain and the southerly wind could cause the occurrence or aggravation of AR.

A novel SLC26A4 splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts.

BACKGROUND: Variants in the SLC26A4 gene are correlated with nonsyndromic hearing loss with an enlarged vestibular aqueduct (EVA). This study aimed to identify the genetic causes in a Chinese family with EVA, and the pathogenicity of the detected variants. METHODS: We collected blood samples and clinical data from a pair of deaf twin sisters with EVA and their family members. As controls, a group of 500 normal-hearing people were enrolled in our study. Twenty-one exons and flanking splice sites of the SLC26A4 gene were screened for pathogenic mutations by polymerase chain reaction and bidirectional Sanger sequencing. Minigene assays were used to verify whether the novel SLC26A4 intronic mutation influenced the normal splicing of mRNA. RESULTS: Hearing loss in the twins with EVA was diagnosed using auditory tests and imaging examinations. Two pathogenic mutations, c.919-2A>G and c.1614+5G>A were detected in SLC26A4, the latter of which has not been reported in the literature. The minigene expression in vitro confirmed that c.1614+5G>A could cause aberrant splicing, resulting in skipping over exon 14. CONCLUSIONS: On the SLC26A4 gene, c.1614+5G>A is a pathogenic mutation. This finding enriches the mutational spectrum of the SLC26A4 gene and provides a basis for the genetic diagnosis of EVA.

Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder.

BACKGROUND: Many hearing-loss diseases are demonstrated to have Mendelian inheritance caused by mutations in single gene. However, many deaf individuals have diseases that remain genetically unexplained. Auditory neuropathy is a sensorineural deafness in which sounds are able to be transferred into the inner ear normally but the transmission of the signals from inner ear to auditory nerve and brain is injured, also known as auditory neuropathy spectrum disorder (ANSD). The pathogenic mutations of the genes responsible for the Chinese ANSD population remain poorly understood. METHODS: A total of 127 patients with non-syndromic hearing loss (NSHL) were enrolled in Guangxi Zhuang Autonomous Region. A hereditary deafness gene mutation screening was performed to identify the mutation sites in four deafness-related genes (GJB2, GJB3, 12S rRNA, and SLC26A4). In addition, whole-exome sequencing (WES) was applied to explore unappreciated mutation sites in the cases with the singularity of its phenotype. RESULTS: Well-characterized mutations were found in only 8.7% (11/127) of the patients. Interestingly, two mutations in the OTOF gene were identified in two affected siblings with ANSD from a Chinese family, including one nonsense mutation c.1273C > T (p.R425X) and one missense mutation c.4994 T > C (p.L1665P). Furthermore, we employed Sanger sequencing to confirm the mutations in each subject. Two compound heterozygous mutations in the OTOF gene were observed in the two affected siblings, whereas the two parents and unaffected sister were heterozygous carriers of c.1273C > T (father and sister) and c.4994 T > C (mother). The nonsense mutation p.R425X, contributes to a premature stop codon, may result in a truncated polypeptide, which strongly suggests its pathogenicity for ANSD. The missense mutation p.L1665P results in a single amino acid substitution in a highly conserved region. CONCLUSIONS: Two mutations in the OTOF gene in the Chinese deaf population were recognized for the first time. These findings not only extend the OTOF gene mutation spectrum for ANSD but also indicate that whole-exome sequencing is an effective approach to clarify the genetic characteristics in non-syndromic ANSD patients.

[Study for the histopathologic change of ethmoid bone in patients with chronic rhinosinusitis and its correlation factors].

OBJECTIVE: To investigate the histopathologic changes of ethmoid bone and its correlation with clinical types of chronic rhinosinusitis (CRS). METHOD: All ethmoid bones and mucosa from 180 patients with CRS after endoscopic sinus surgery were collected for histopathologic detection with HE staining. The number and the rate of cases were counted according to different histopathologic types. To analyze the correlation between ethmoid bones and clinical types of CRS, mucosal pathologic change, the CT-scanning types of sinusitis, the course of disease as well as operational history. RESULT: The ethmoid bone of all patients had varying degrees of histopathologic changes. There were 5 cases (2.78%) in stage I, 38 cases (21.11%) in stage II, 71 cases (39.44%) in stage III, and 66 cases (36.67%) in stage NIV. The histopathologic changes of ethmoid bone varied in different clinical types. In type I, there were 5 cases (8.33%) in stage I, 33 cases (55.00%) in stage II, 15 cases (25.00%) in stage III, and 7 cases (11.67%) in stage NV. In type I, there were 5 cases (8.33%) in stage II, 37 cases (61.67%) in stage mI, and 18 cases (30.00%) in stage NV. In type III, there were 19 cases (31.67%) in stage III, and 41 cases (68.33%) in stage NV. All histopathologic changes of ethmoid bone were statistically correlated (P < 0.01) with clinical types of CRS, pathologic mucosal change, the CT-scanning types of sinusitis, the course of disease as well as operational history. CONCLUSION: Almost all patients with CRS manifest different-degrees of histopathologic changes, which are correlated with the clinical types of CRS, pathologic mucosal change, the CT-scanning types, the course of disease as well as operational history.

[The diagnosis and treatment of relapsing polychondritis (a case report)].

OBJECTIVE: To enhance the understanding of the diagnosis and treatments of relapsing polychondritis (RP). METHOD: We present a 37-years-old woman with RP, and review the literatures. RESULT: Initial presenting symptoms of the patient was auricle perichondritis. The patient was diagnosed as sudden deafness firstly. After 2 months, she consulted otolaryngologists at second time with a variety of involvement of the ear, nose, larynx or heart. She was diagnosed as relapsing polychondritis finally. CONCLUSION: RP was rare autoimmune system disease, early clinical manifestation were atypical, misdiagnosis and diagnostic errors usually occurred. Corticosteroids, immunosuppressive agents, dapsone and surgical operation could be used in these patients to control symptoms.

[Facial nerve root combing scraping for hemifacial spasm].

OBJECTIVE: To explore the effective intracranial surgical method for hemifacial spasm which can be operated more safely and easily. METHOD: Twenty-five cases of hemifacial spasm underwent intracranial facial nerve root combing scraping by improved retrosigmoid approach. The compressing vessels were found in 10 cases and could be removed easily. Both microvascular decompression and facial nerve root combing scraping were performed to reduce recurrence. The other cases with perforating artery or without any compressing vessels underwent the facial nerve root combing scraping and cutting off partially for about 1/6 to approximately 1/5 neural fibers. RESULT: Hemifacial spasms were obliterated in 22 cases (88%) after operation, obviously relieved in 2 cases (8%), invalid in 1 case (4%). Varied facial nerve paralysis was observed in 25 patients, but no hearing disturbance and other serious complication occurred. Follow-up for 2 to approximately 8 years showed there were recurrences in 2 cases (8%) and the facial nerve paralysis of 25 cases recovered in 1 to approximately 6 months after operation. CONCLUSION: The facial nerve root combing scraping is an effective and safe microsurgical procedure which has wide-ranged indication and less complication. It is very important to select suitable treatment for the patient individually during the operation to improve the efficacy and lower the risk.

[Glossopharyngeal neuroutomy by improved retrosigmoid approach].

OBJECTIVE: To explore a surgical approach to improve the operation effect of glossopharyngeal neuralgia (GPN). METHOD: In 8 cases with GPN, the improved retrosigmoid approach was adopted to access the cerebellopontine angle for exposing the jugular foramen and its adjacent tissues so as to cut off the glossopharyngeal under microscope. The sensoryrizotomy of trigemlind nerve was also performed if there was a trigeminal neuralgia. RESULT: All the symptom of pain in 8 cases with GPN disappeared after operation with no complication occurred. There was no recurrence following-up for 2 approximately 7 years. CONCLUSION: By improved retrosigmoid approach, it is easy to explore the jugular foramen and cut off the glossopharyngea for treating GDN.

[Clinical study of non-invasive nasal sinus mycoses].

OBJECTIVE: To explore the pathogeny, diagnosis and treatment of the noninvasive nasal sinus mycoses. METHOD: 11 cases with nasal sinus mycoses were analyzed retrospectively. All of them had undergone endoscopic operation. RESULT: After operation all cases got regular check up under endoscope. 9 cases recovered quickly. The other 2 had caseous matter in their maxillary sinus in the initial stage. After cleaning up the fungus ball and washing the maxillary sinus for several times, the surgical cavity became clear. 10 cases had been followed up for 6 months to 5 years and no recurrence occurred. The other one lost follow-up. CONCLUSION: Endoscopic operation is the basic surgical method to treat the non-invasive nasal sinus mycoses. Excising the focus thoroughly, correcting the abnormal nasal cavity structure and resuming the cleanout function of nasal sinus cilia are the principle of treatment.

[The observation of clinical efficacy of combined modality therapy in 58 cases of perennial allergic rhinitis].

OBJECTIVE: To study the effect of combined modality therapy on perennial allergic rhinitis (PAR). METHOD: Fifty-eight cases of PAR received a 4-weeks treatment with combined beclomethasone dipropionate nasal spray (BDP), cetirizine hydrochloride, ethmoidal nerve radiofrequency treatment, and half-dose combined BDP, cetirizine hydrochlonde was used for improving the recurrence symptoms in one year follow-up. RESULT: The overall effective (excellent/good) rate was 94.83% (excellent 72.41%, good 22.41%). The recurrence rate was 51.72%, but symptoms of 27 recurrence cases were lighter than pre-treatment. All treatments were well tolerated, and no serious adverse events occurred. CONCLUSION: The reasonable combined modality therapy is aimed at the complicated pathogenesis of PAR, and the curative effect is satisfactory, so it is a good way to treat PAR.