Marquezlaw8017
nly non-acid reflux type group was significantly lower than that of the mainly acid reflux type group. The average number of reflux events in the mainly non-acid reflux group was significantly higher than that in the mainly acid reflux type group (P less then 0.05). Conclusion The results show that non-acid reflux plays a certain role in laryngopharyngeal reflux disease, but the effect of acid reflux is greater.Objective To screen and analyze the mutations of MITF gene in two children of type Ⅱ Waardenburg syndrome (WS2) from different families in Yunnan,China,and to explore the possible molecular pathogenesis. Methods With informed consent, medical history collection, physical examinations, audiological evaluation, and high resolution computer tomography (HRCT) scan of temporal bone were performed on the two WS2 probands and their family members. Genomic DNA was extracted from peripheral blood of all individuals. The coding regions including all exons, part of introns and promoters of MITF, PAX3, SOX10, SNAI2, END3, ENDRB, and KITLG genes were sequenced by high-throughput sequencing. According to the results of high-throughput sequencing, pathogenic mutations detected in the probands and their parents were verified by Sanger sequencing. Results The proband 1 carried c.641_643delGAA mutation in the 7th exon of MITF gene, which was a frame-shift mutation resulting in an amino acid change of p.214delR. It was a de novo mutation as the parents of proband 1 showed no variation on this site. The proband 2 carried heterozygous loss of the large fragment ranging from exon 1 to exon 9 of MITF gene, which defected the function of MITF protein. Conclusion Genetic examinations provide important evidence for diagnosis of Waardenburg syndrome. Heterozygous mutation c.641_643delGAA and heterozygous loss of the large fragment ranging from exon 1 to exon 9 of MITF gene might be the molecular pathogenesis of the two WS2 probands in this study.Objective To compare the effects of different intervention strategies for the management of residual dizziness following successful canalith repositioning procedure (CRP) in patients with benign paroxysmal positional vertigo (BPPV). Methods A total of 129 BPPV patients with residual dizziness following successful CRP were recruited during January 2019 and July 2019. They were randomly assigned into three groups with 43 cases in each group the vestibular rehabilitation group received rehabilitation training for four weeks; betahistine group was given orally 12 mg betahistine three times a day for four weeks; and the control group had no specific treatment. The primary outcomes were daily activities and social participation assessed by the Vestibular Activities and Participation measure (VAP). Secondary outcomes includedbalance function assessed by sensory organization test (SOT) and the duration of residual symptoms. Stata15.0 software was used for statistical analysis. selleck chemicals llc Results The scores of VAP in the three groups decreased over time, but a more significant decrease was found in vestibular rehabilitation group. Further paired comparison showed that the difference between the vestibular rehabilitation group and the control group was of statistical significance (B=-3.88, χ2=18.29, P0.05). The median duration of residual dizziness for both vestibular rehabilitation and betahistine groups was 14 days, while that of control group was 19 days, with no significant difference between three groups[Log-rank (Mantel-Cox) test; χ2=1.82, df=2, P=0.40]. Conclusion Vestibular rehabilitation can significantly improve the daily activities and social participation function in BPPV patients with residual symptoms following successful CRP, but its effects on shortening the duration of residual symptoms and promoting the recovery of balance function remain uncertain.Objective To evaluate the application of combination use of endoscopic endonasal approach combined with the frontotemporal orbitozygomatic approach microscopically in skull base tumor with intra and extra-cranial involvement. Methods A total of 7 patients (4 males and 3 females, aging from 27 to 65 years old, with a medium age of 48) undergone complicated skull base surgeries via endoscopic endonasal approach combined with the frontotemporal orbitozygomatic approach microscopically from May 2016 to January 2018 were reviewed respectively. The patients included 2 cases of recurrent invasive pituitary adenoma, 3 cases of basal skull meningiomas, 1 case of clivus chondrosarcoma, and 1 case of recurrent nasopharyngeal carcinoma. The lesion extensively infiltrated nasal cavity, extending to the paranasal sinus, bilateral cavernous sinus, sellar region, suprasellar, superior clivus, temporal lobe, pterygopalatine fossa, infratemporal fossa and important intracranial vessels. All the 7 patients were treated under geor recurred during the follow-up period. All patients were recovered well with GOS grade Ⅳ-Ⅴ. Conclusions Endoscopic transnasal approach combined with microscopic frontotemporal orbitozygomatic approach can remove tumors in one stage, reduce surgical complications and improve surgical effect. It has good application prospects and is suitable for excising complex intracranial and extracranial communicating tumors of widely involving sellar, clivus and petrous apex area.Objective To investigate the diagnosis and surgical treatment of patients with soft tissue necrosis of cranial base after radiotherapy for nasopharyngeal carcinoma (NPC). Methods The clinical data of 7 NPC patients with soft tissue necrosis but not bone necrosis after radiotherapy were retrospectively analyzed.They were treated in Xiangya Hospital from 2015 to 2019. The clinical manifestations, diagnosis, treatment and prognosis were analyzed. The major clinical symptoms of the 7 patients were headache in 7 cases, hearing loss in 7 cases, long-term nasal malodor in 5 cases and epistaxis in 2 cases. All patients underwent high-resolution CT, MR and magnetic resonance angiography (MRA) before operation. All cases were treated with extended transnasal endoscopic approach under general anesthesia for resection of necrotic tissue. Five cases had their affected cartilaginous segments of the eustachian tubes partially or completely resected, 7 cases were treated with myringotomy and tube insertion, and 1 case was treated with pansinusectomy.