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Chinese journal of otorhinolaryngology head and neck surgery最新文献

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[A case of sclerosing microcystic adenocarcinoma of the tongue]. [舌硬化性微囊腺癌一例]。
Q4 Medicine Pub Date : 2024-09-07 DOI: 10.3760/cma.j.cn115330-20240408-00203
M Xue, J Zhang, S S Yao, F Y Ma, W Zhang
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引用次数: 0
[Selection of inner ear fenestration strategy and surgical effect of patients with oval window atresia accompanied by facial nerve aberration]. [卵圆窗闭锁伴面神经畸形患者的内耳开窗策略选择及手术效果]。
Q4 Medicine Pub Date : 2024-09-07 DOI: 10.3760/cma.j.cn115330-20231023-00165
Z R Chen, R W Tang, J Xie, J Y Guo, P F Zhao, Z J Yang, G P Wang, S S Gong
<p><p><b>Objective:</b> To summarize the clinical features and postoperative efficacy of patients with oval window atresia accompanied by facial nerve aberration. <b>Methods:</b> The clinical data of patients with congenital middle ear malformation with facial nerve aberration admitted to our hospital from January 2015 to March 2023 were retrospectively analyzed. There were 97 cases (133 ears) in total. Among them, 39 patients (44 ears) had complete follow-up data, including 27 male patients and 12 females, aged 7-48 years old, with an average age of 17.8 years old. Of these, 14 cases (16 ears) were patients combined with facial nerve aberration, and 25 cases (28 ears) were without facial nerve aberration. The results of imaging examination, pure-tone audiometry, selection of surgical strategy, intraoperative findings and postoperative hearing improvement were summarized and analyzed. The malformations of malleus, incus, stapes, oval window and facial nerve were recorded. Prism 9 software was used to statistically analyze the mean bone conductance and air-bone gap of patients before and after surgery. <b>Results:</b> All the 14 patients (16 ears) with middle ear malformation accompanied by facial nerve aberration and oval window atresia showed poor hearing and no facial palsy since childhood. High resolution CT (HRCT) examination of temporal bone, pure tone audiometry and Gelle test were performed before surgery. The malformations of malleus, incus, stapes, oval window and facial nerve were recorded. Preoperative high-resolution CT (HRCT) examination of temporal bone found 12 ears with 4 or more deformities, accounting for 75.00%, in the group of patients with facial nerve malformation. The preoperative average bone conductive threshold was (15.3±10.4) dB and the average air-bone gap was (46.3±10.6) dB in pure-tone audiometry (0.5, 1, 2, 4kHz). According to the different degrees of facial nerve and ossicle malformation, we performed three different hearing reconstruction strategies for the 14 patients (16 ears) with facial nerve aberration and oval window atresia, including 7 ears of incus bypass artificial stape implantation, 7 ears of Malleostapedotomy (MS) and 2 ears of Malleus-cochlear-prothesis (MCP). After 3 months to 18 months of follow-up, all patients showed no facial paralysis. The postoperative mean bone conductive threshold was (15.7±7.9) dB and air-bone gap was (19.8±8.5) dB. There were significant differences in mean air-bone gap before and after operation (<i>t</i>=7.766, <i>P</i><0.05), and there was no significant difference between the mean bone conductive threshold before and after surgery (<i>t</i>=0.225, <i>P</i>=0.824). There was no significant difference of mean reduction of air-bone gap between patients with and without facial nerve aberration (<i>t</i>=1.412, <i>P</i>=0.165). There was no significant difference between the three hearing reconstruction strategies. There was no significant displacement of the Piston examine
目的总结卵圆窗闭锁伴面神经畸形患者的临床特征和术后疗效。方法回顾性分析我院自2015年1月至2023年3月收治的先天性中耳畸形伴面神经发育畸形患者的临床资料。共 97 例(133 耳)。其中,有完整随访资料的患者39例(44耳),包括男性患者27例,女性患者12例,年龄7-48岁,平均年龄17.8岁。其中,14 例(16 耳)患者合并有面神经畸变,25 例(28 耳)患者无面神经畸变。对影像学检查、纯音测听、手术策略选择、术中发现和术后听力改善的结果进行了总结和分析。记录了耳郭、切迹、镫骨、卵圆窗和面神经的畸形情况。使用 Prism 9 软件对患者手术前后的平均骨传导和气骨间隙进行统计分析。结果中耳畸形并伴有面神经畸变和卵圆窗闭锁的14名患者(16耳)均表现为听力低下,且自幼无面瘫。手术前进行了颞骨高分辨率 CT(HRCT)检查、纯音测听和 Gelle 测试。记录了耳郭、切迹、镫骨、卵圆窗和面神经的畸形情况。术前颞骨高分辨率 CT(HRCT)检查发现,面神经畸形患者组中有 12 只耳朵有 4 个或更多畸形,占 75.00%。在纯音测听(0.5、1、2、4kHz)中,术前平均骨传导阈值为(15.3±10.4)dB,平均气骨间隙为(46.3±10.6)dB。根据面神经和听小骨畸形的不同程度,我们对14例(16耳)面神经畸形和卵圆窗闭锁患者采取了三种不同的听力重建策略,包括7耳门骨旁路人工耳廓植入术、7耳耳廓切开术(MS)和2耳耳廓-人工耳蜗植入术(MCP)。经过 3 个月至 18 个月的随访,所有患者均未出现面瘫。术后平均骨传导阈值为(15.7±7.9)分贝,气骨间隙为(19.8±8.5)分贝。手术前后的平均气骨间隙有显著差异(t=7.766,Pt=0.225,P=0.824)。面神经畸变患者与无面神经畸变患者的平均气骨间隙缩小程度无明显差异(t=1.412,P=0.165)。三种听力重建策略之间无明显差异。通过 U-HRCT 检查,活塞没有明显移位。结论对于面神经部分覆盖椭圆窗的中耳畸形患者,可根据听骨畸形的具体情况选择切口分流人工镫骨植入术或耳廓成形术(MS);对于面神经完全覆盖椭圆窗区域的患者,可选择耳廓-人工耳蜗成形术(MCP)。对于伴有面神经畸形的卵圆窗闭锁患者,三种镫骨手术均安全可靠。它们之间的疗效没有明显差异。术前对中耳畸形进行 HRCT 评估是有效的。面神经畸形与否,手术效果无明显差异。U-HRCT 可用于术前评估中耳畸形和术后活塞植入情况。由于手术的风险,不想接受手术的患者可以选择人工听力艾滋病,如助听器、振动声桥、骨桥或骨固定助听器。
{"title":"[Selection of inner ear fenestration strategy and surgical effect of patients with oval window atresia accompanied by facial nerve aberration].","authors":"Z R Chen, R W Tang, J Xie, J Y Guo, P F Zhao, Z J Yang, G P Wang, S S Gong","doi":"10.3760/cma.j.cn115330-20231023-00165","DOIUrl":"https://doi.org/10.3760/cma.j.cn115330-20231023-00165","url":null,"abstract":"&lt;p&gt;&lt;p&gt;&lt;b&gt;Objective:&lt;/b&gt; To summarize the clinical features and postoperative efficacy of patients with oval window atresia accompanied by facial nerve aberration. &lt;b&gt;Methods:&lt;/b&gt; The clinical data of patients with congenital middle ear malformation with facial nerve aberration admitted to our hospital from January 2015 to March 2023 were retrospectively analyzed. There were 97 cases (133 ears) in total. Among them, 39 patients (44 ears) had complete follow-up data, including 27 male patients and 12 females, aged 7-48 years old, with an average age of 17.8 years old. Of these, 14 cases (16 ears) were patients combined with facial nerve aberration, and 25 cases (28 ears) were without facial nerve aberration. The results of imaging examination, pure-tone audiometry, selection of surgical strategy, intraoperative findings and postoperative hearing improvement were summarized and analyzed. The malformations of malleus, incus, stapes, oval window and facial nerve were recorded. Prism 9 software was used to statistically analyze the mean bone conductance and air-bone gap of patients before and after surgery. &lt;b&gt;Results:&lt;/b&gt; All the 14 patients (16 ears) with middle ear malformation accompanied by facial nerve aberration and oval window atresia showed poor hearing and no facial palsy since childhood. High resolution CT (HRCT) examination of temporal bone, pure tone audiometry and Gelle test were performed before surgery. The malformations of malleus, incus, stapes, oval window and facial nerve were recorded. Preoperative high-resolution CT (HRCT) examination of temporal bone found 12 ears with 4 or more deformities, accounting for 75.00%, in the group of patients with facial nerve malformation. The preoperative average bone conductive threshold was (15.3±10.4) dB and the average air-bone gap was (46.3±10.6) dB in pure-tone audiometry (0.5, 1, 2, 4kHz). According to the different degrees of facial nerve and ossicle malformation, we performed three different hearing reconstruction strategies for the 14 patients (16 ears) with facial nerve aberration and oval window atresia, including 7 ears of incus bypass artificial stape implantation, 7 ears of Malleostapedotomy (MS) and 2 ears of Malleus-cochlear-prothesis (MCP). After 3 months to 18 months of follow-up, all patients showed no facial paralysis. The postoperative mean bone conductive threshold was (15.7±7.9) dB and air-bone gap was (19.8±8.5) dB. There were significant differences in mean air-bone gap before and after operation (&lt;i&gt;t&lt;/i&gt;=7.766, &lt;i&gt;P&lt;/i&gt;&lt;0.05), and there was no significant difference between the mean bone conductive threshold before and after surgery (&lt;i&gt;t&lt;/i&gt;=0.225, &lt;i&gt;P&lt;/i&gt;=0.824). There was no significant difference of mean reduction of air-bone gap between patients with and without facial nerve aberration (&lt;i&gt;t&lt;/i&gt;=1.412, &lt;i&gt;P&lt;/i&gt;=0.165). There was no significant difference between the three hearing reconstruction strategies. There was no significant displacement of the Piston examine","PeriodicalId":23987,"journal":{"name":"Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142296845","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Advances in the application of galvanic vestibular stimulation in treatment of vestibular disorders]. [应用电流前庭刺激治疗前庭障碍的进展]。
Q4 Medicine Pub Date : 2024-09-07 DOI: 10.3760/cma.j.cn115330-20240509-00272
L L Wang, H J Xiao, B Liu
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引用次数: 0
[Preliminary analysis of risk factors of tinnitus related to female menopause]. [与女性更年期有关的耳鸣风险因素初步分析]。
Q4 Medicine Pub Date : 2024-09-07 DOI: 10.3760/cma.j.cn115330-20240107-00017
X Ma, Y Q Lu, Y X Zhao, L S Yu, W P Bai, R C Lai, L J E

Objective: To investigate the possible pathogenesis and possible risk factors of tinnitus related to female menopause. Methods: From April 2016 to October 2016, 59 female patients with menopausal syndrome were diagnosed in the menopause comprehensive management clinic. Tinnitus and menopause questionnaires were conducted, based on whether having tinnitus, those patients were divided into two groups: tinnitus group and no tinnitus group. Age, body mass index (BMI), Kupperman menopausal index (KMI) score, follicle-stimulating hormone (FSH) level of patients in the two groups were analyzed. Menopausal symptoms, related medical history and possible related factors of tinnitus were statistically analyzed. Results: A total of 59 cases were collected, 22 of which were accompanied by tinnitus. The incidence of idiopathic tinnitus was 35.1% (20/57) because 2 cases of thyroid related tinnitus with clear etiology were removed. Complete data were obtained from 17 of 20 patients with idiopathic tinnitus and 26 of 37 patients without tinnitus. Age, BMI, menopause KMI score, hormone level, menopause symptoms and possible factors related to tinnitus were statistically analyzed between the two groups, and the incidence of headache was statistically different between the two groups (χ2=9.098, P=0.003), but no other factors were statistically significant(P>0.05). The severity of insomnia and tinnitus were further analyzed (χ2=2.841, P=0.417), and there was no significant difference between the two groups. Conclusion: Headache history may be one of the high risk factors for the occurrence of menopausal tinnitus.

目的研究与女性更年期有关的耳鸣的可能发病机制和可能的风险因素。方法:2016年4月至2016年10月,在更年期综合管理门诊确诊更年期综合征女性患者59例。进行耳鸣和更年期问卷调查,根据是否有耳鸣将患者分为两组:耳鸣组和无耳鸣组。分析两组患者的年龄、体重指数(BMI)、库珀曼绝经指数(KMI)评分、促卵泡激素(FSH)水平。对更年期症状、相关病史和耳鸣的可能相关因素进行了统计分析。结果共收集到 59 例病例,其中 22 例伴有耳鸣。特发性耳鸣的发生率为 35.1%(20/57),因为有 2 例病因明确的甲状腺相关性耳鸣病例被排除在外。在 20 例特发性耳鸣患者中,有 17 例获得了完整的数据,在 37 例无耳鸣患者中,有 26 例获得了完整的数据。对两组患者的年龄、体重指数(BMI)、更年期 KMI 评分、激素水平、更年期症状以及与耳鸣相关的可能因素进行了统计分析,两组患者的头痛发生率有统计学差异(χ2=9.098,P=0.003),但其他因素均无统计学意义(P>0.05)。进一步分析失眠和耳鸣的严重程度(χ2=2.841,P=0.417),两组间无显著差异。结论头痛史可能是更年期耳鸣发生的高危因素之一。
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引用次数: 0
[Study on the impact of aging on the brain activity patterns in auditory speech comprehension dual-route regions]. [衰老对听觉言语理解双路区大脑活动模式的影响研究]。
Q4 Medicine Pub Date : 2024-09-07 DOI: 10.3760/cma.j.cn115330-20231017-00156
Y Liu, Y N Chen, S J Wang, L Yang, Y Wang, S Wang

Objective: To elucidate the patterns of neural activity alterations associated with auditory speech comprehension across the lifespan and the impact of varying listening environments on these dynamics. Methods: Functional near-infrared spectroscopy (fNIRS) was employed to measure the concentration of oxygenated hemoglobin in the brains of 93 adults aged from 20 to 70 with normal hearing. These participants were recruited from Beijing Tongren Hospital, affiliated with Capital Medical University, between March 2021 and February 2023. Brain activity was recorded as subjects passively listened to sentences in both silent and noise conditions with varying signal-to-noise ratios (SNR). The alterations in brain activity were analyzed to delineate the age-related trends under different auditory conditions. Statistical analysis was performed using SPSS 22.0 software. Results: The bilateral primary auditory cortex, superior temporal gyrus, and Wernicke's area, critical for sound signal discrimination and perception, exhibited enhanced activity post-stimulus presentation. Broca's area, pivotal for speech production, demonstrated an initial decrease in activity followed by an increment after stimulus onset. The ventral middle temporal gyrus and dorsal postcentral gyrus showed augmented activity in later time windows. Furthermore, it was observed that in quiet conditions and at low noise levels (SNR=10 dB), auditory cortical activity diminished with age. With increasing noise levels (SNR=5 dB), compensatory brain regions (right ventral middle temporal gyrus and dorsal postcentral gyrus) showed enhanced activity with advancing age. As noise intensity further escalated (SNR=0, SNR=-5 dB), not only did auditory cortical activity decline, but also the activity in regions associated with semantic processing and motor functions reduced with age. Conclusion: During auditory speech comprehension, dual-pathway brain regions exhibit distinct activity patterns. With heightened noise exposure, an increasing number of brain regions are influenced by aging, manifesting as a general decline in activity in most dual-pathway regions, alongside a selective augmentation in some compensatory regions on the right hemisphere.

目的阐明人一生中与听觉言语理解相关的神经活动变化模式,以及不同听力环境对这些动态变化的影响。研究方法采用功能性近红外光谱(fNIRS)测量 93 名听力正常的 20 至 70 岁成年人大脑中氧合血红蛋白的浓度。这些受试者于 2021 年 3 月至 2023 年 2 月期间从首都医科大学附属北京同仁医院招募。受试者在不同信噪比(SNR)的无声和噪声条件下被动聆听句子时,大脑活动被记录下来。通过分析大脑活动的变化,可以确定在不同听觉条件下与年龄相关的趋势。统计分析使用 SPSS 22.0 软件进行。结果双侧初级听觉皮层、颞上回和韦尼克区对声音信号的辨别和感知至关重要,它们在刺激呈现后表现出增强的活动。布洛卡区是语言产生的关键区域,在刺激出现后,该区的活动最初会减少,随后会增加。腹侧颞中回和背侧中央后回在稍后的时间窗口中活动增强。此外,研究还发现,在安静环境和低噪音水平(信噪比=10 dB)下,听觉皮层活动随着年龄的增长而减弱。随着噪音水平的增加(信噪比=5 dB),补偿性脑区(右侧腹侧颞中回和背侧中央后回)的活动随着年龄的增长而增强。随着噪声强度的进一步增加(信噪比=0,信噪比=-5 dB),不仅听觉皮层活动下降,而且与语义处理和运动功能相关区域的活动也随着年龄的增长而减少。结论在听觉言语理解过程中,双通道脑区表现出不同的活动模式。随着噪声暴露程度的增加,越来越多的脑区受到衰老的影响,表现为大多数双通道脑区的活动普遍下降,而右半球的一些补偿性脑区则有选择性地增强。
{"title":"[Study on the impact of aging on the brain activity patterns in auditory speech comprehension dual-route regions].","authors":"Y Liu, Y N Chen, S J Wang, L Yang, Y Wang, S Wang","doi":"10.3760/cma.j.cn115330-20231017-00156","DOIUrl":"https://doi.org/10.3760/cma.j.cn115330-20231017-00156","url":null,"abstract":"<p><p><b>Objective:</b> To elucidate the patterns of neural activity alterations associated with auditory speech comprehension across the lifespan and the impact of varying listening environments on these dynamics. <b>Methods:</b> Functional near-infrared spectroscopy (fNIRS) was employed to measure the concentration of oxygenated hemoglobin in the brains of 93 adults aged from 20 to 70 with normal hearing. These participants were recruited from Beijing Tongren Hospital, affiliated with Capital Medical University, between March 2021 and February 2023. Brain activity was recorded as subjects passively listened to sentences in both silent and noise conditions with varying signal-to-noise ratios (SNR). The alterations in brain activity were analyzed to delineate the age-related trends under different auditory conditions. Statistical analysis was performed using SPSS 22.0 software. <b>Results:</b> The bilateral primary auditory cortex, superior temporal gyrus, and Wernicke's area, critical for sound signal discrimination and perception, exhibited enhanced activity post-stimulus presentation. Broca's area, pivotal for speech production, demonstrated an initial decrease in activity followed by an increment after stimulus onset. The ventral middle temporal gyrus and dorsal postcentral gyrus showed augmented activity in later time windows. Furthermore, it was observed that in quiet conditions and at low noise levels (SNR=10 dB), auditory cortical activity diminished with age. With increasing noise levels (SNR=5 dB), compensatory brain regions (right ventral middle temporal gyrus and dorsal postcentral gyrus) showed enhanced activity with advancing age. As noise intensity further escalated (SNR=0, SNR=-5 dB), not only did auditory cortical activity decline, but also the activity in regions associated with semantic processing and motor functions reduced with age. <b>Conclusion:</b> During auditory speech comprehension, dual-pathway brain regions exhibit distinct activity patterns. With heightened noise exposure, an increasing number of brain regions are influenced by aging, manifesting as a general decline in activity in most dual-pathway regions, alongside a selective augmentation in some compensatory regions on the right hemisphere.</p>","PeriodicalId":23987,"journal":{"name":"Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142296846","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Laryngeal mucormycosis: a case report]. [喉粘液瘤病:病例报告]。
Q4 Medicine Pub Date : 2024-09-07 DOI: 10.3760/cma.j.cn115330-20240424-00233
X H Liang, P Y Sun, B Ye
{"title":"[Laryngeal mucormycosis: a case report].","authors":"X H Liang, P Y Sun, B Ye","doi":"10.3760/cma.j.cn115330-20240424-00233","DOIUrl":"10.3760/cma.j.cn115330-20240424-00233","url":null,"abstract":"","PeriodicalId":23987,"journal":{"name":"Chinese journal of otorhinolaryngology head and neck surgery","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142296838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Treacher Collins Syndrome 2 caused by a novel pathogenic variant in PLOR1D: clinical report and literature review]. [由 PLOR1D 的一个新型致病变体引起的特雷撤-科林斯综合征 2:临床报告和文献综述]。
Q4 Medicine Pub Date : 2024-09-07 DOI: 10.3760/cma.j.cn115330-20231013-00144
S P Sun, B Zuo, W L He, H J Wang, H E Xu, W Lu

Objective: To investigate the clinical features, molecular etiology, and treatment of a family with Treacher Collins Syndrome 2 (TCS2). Methods: Information of the proband (female, 8 years old) including medical history and family history was collected. Physical examination and examinations concerning laboratory, audiology, and radiology were performed on the proband. Physical examination was also performed on the family members. Genomic DNA of proband was extracted for whole exome sequencing, and then the genomic DNA of family members was extracted for Sanger sequencing. POLR1D and TCS2 related literatures published before August 31,2023 were searched and sifted in PubMed and CKNI databases. The clinical characteristics of TCS2 were summarized. Results: The proband had poor hearing since childhood, with pure tone audiometry indicating conductive hearing loss. She had a smaller jaw, bilateral preauricular fistulas and cup-shaped ear deformities. Temporal bone CT scan revealed deformities in the left external ear canal, bilateral middle ear and inner ear. A bone-conduction hearing aid device was surgically implanted, resulting in restoration of almost normal hearing levels. The proband's mother also had a slightly smaller jaw. Genetic analysis revealed a novel heterozygous variant NM_015972.4:c.38_47del in the POLR1D gene in the proband, which was inherited from her mother. A review of the literature revealed no clear evidence of genotype-phenotype correlation in TCS2. Conclusions: Molecular diagnosis plays a vital role in the diagnosis of TCS2. Patients with normal facial phenotype may be carriers of pathogenic variants in the POLR1D gene and have the risk of passing it to the offsprings with complete penetrance. Proper bone conductive hearing devices can improve the quality of life of TCS2 patients.

目的研究一个特雷撤-科林斯综合征 2(TCS2)家族的临床特征、分子病因和治疗方法。研究方法收集特雷撤-科林斯综合征患者(女性,8 岁)的病史和家族史。对该患者进行了体格检查以及实验室、听力和放射学检查。还对家庭成员进行了体格检查。提取原发病的基因组 DNA 进行全外显子组测序,然后提取家庭成员的基因组 DNA 进行 Sanger 测序。在PubMed和CKNI数据库中检索并筛选了2023年8月31日前发表的POLR1D和TCS2相关文献。总结了TCS2的临床特征。结果该患者自幼听力较差,纯音测听显示为传导性听力损失。她的下巴较小、双侧耳前瘘管和杯状耳畸形。颞骨 CT 扫描显示左外耳道、双侧中耳和内耳畸形。经手术植入骨传导助听器后,听力恢复基本正常。该患者的母亲也有一个略小的下颌。基因分析显示,该患者的 POLR1D 基因中存在一个新型杂合子变异 NM_015972.4:c.38_47del,该变异遗传自其母亲。通过查阅文献,没有发现 TCS2 基因型与表型相关的明确证据。结论:分子诊断在 TCS2 的诊断中起着至关重要的作用。面部表型正常的患者可能是 POLR1D 基因致病变体的携带者,并有可能将其完全遗传给后代。适当的骨传导听力设备可以改善 TCS2 患者的生活质量。
{"title":"[Treacher Collins Syndrome 2 caused by a novel pathogenic variant in <i>PLOR1D</i>: clinical report and literature review].","authors":"S P Sun, B Zuo, W L He, H J Wang, H E Xu, W Lu","doi":"10.3760/cma.j.cn115330-20231013-00144","DOIUrl":"10.3760/cma.j.cn115330-20231013-00144","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinical features, molecular etiology, and treatment of a family with Treacher Collins Syndrome 2 (TCS2). <b>Methods:</b> Information of the proband (female, 8 years old) including medical history and family history was collected. Physical examination and examinations concerning laboratory, audiology, and radiology were performed on the proband. Physical examination was also performed on the family members. Genomic DNA of proband was extracted for whole exome sequencing, and then the genomic DNA of family members was extracted for Sanger sequencing. <i>POLR1D</i> and TCS2 related literatures published before August 31,2023 were searched and sifted in PubMed and CKNI databases. The clinical characteristics of TCS2 were summarized. <b>Results:</b> The proband had poor hearing since childhood, with pure tone audiometry indicating conductive hearing loss. She had a smaller jaw, bilateral preauricular fistulas and cup-shaped ear deformities. Temporal bone CT scan revealed deformities in the left external ear canal, bilateral middle ear and inner ear. A bone-conduction hearing aid device was surgically implanted, resulting in restoration of almost normal hearing levels. The proband's mother also had a slightly smaller jaw. Genetic analysis revealed a novel heterozygous variant NM_015972.4:c.38_47del in the <i>POLR1D</i> gene in the proband, which was inherited from her mother. A review of the literature revealed no clear evidence of genotype-phenotype correlation in TCS2. <b>Conclusions:</b> Molecular diagnosis plays a vital role in the diagnosis of TCS2. Patients with normal facial phenotype may be carriers of pathogenic variants in the <i>POLR1D</i> gene and have the risk of passing it to the offsprings with complete penetrance. Proper bone conductive hearing devices can improve the quality of life of TCS2 patients.</p>","PeriodicalId":23987,"journal":{"name":"Chinese journal of otorhinolaryngology head and neck surgery","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142296864","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[A case of sinus squamous cell carcinoma with complete remission after immunotherapy combined with arterial infusion chemotherapy]. [免疫疗法联合动脉灌注化疗后完全缓解的鼻窦鳞状细胞癌病例]。
Q4 Medicine Pub Date : 2024-09-07 DOI: 10.3760/cma.j.cn115330-20240529-00317
X J Kou, Z Li, C Yang, J L Zhang, Y M Ding, T Y Ma, J Wu, H W Zhao, X H Chen
{"title":"[A case of sinus squamous cell carcinoma with complete remission after immunotherapy combined with arterial infusion chemotherapy].","authors":"X J Kou, Z Li, C Yang, J L Zhang, Y M Ding, T Y Ma, J Wu, H W Zhao, X H Chen","doi":"10.3760/cma.j.cn115330-20240529-00317","DOIUrl":"10.3760/cma.j.cn115330-20240529-00317","url":null,"abstract":"","PeriodicalId":23987,"journal":{"name":"Chinese journal of otorhinolaryngology head and neck surgery","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142296833","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Metastatic leiomyosarcoma of the tonsil: a case report]. [扁桃体转移性亮肌肉瘤:病例报告]。
Q4 Medicine Pub Date : 2024-09-07 DOI: 10.3760/cma.j.cn115330-20240309-00127
Y J Jia, L Z Xu, F F Xu, H Y He
{"title":"[Metastatic leiomyosarcoma of the tonsil: a case report].","authors":"Y J Jia, L Z Xu, F F Xu, H Y He","doi":"10.3760/cma.j.cn115330-20240309-00127","DOIUrl":"10.3760/cma.j.cn115330-20240309-00127","url":null,"abstract":"","PeriodicalId":23987,"journal":{"name":"Chinese journal of otorhinolaryngology head and neck surgery","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142296839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Neoadjuvant treatment by toripalimab combined with chemotherapy for advanced poorly differentiated tonsillar squamous cell carcinoma: a case report]. [托里帕利单抗联合化疗对晚期分化不良扁桃体鳞状细胞癌的新辅助治疗:病例报告]。
Q4 Medicine Pub Date : 2024-09-07 DOI: 10.3760/cma.j.cn115330-20240527-00312
X W Zhang, P Shi, L Gui, Z J Li, S Y Liu, X H He, C M An
{"title":"[Neoadjuvant treatment by toripalimab combined with chemotherapy for advanced poorly differentiated tonsillar squamous cell carcinoma: a case report].","authors":"X W Zhang, P Shi, L Gui, Z J Li, S Y Liu, X H He, C M An","doi":"10.3760/cma.j.cn115330-20240527-00312","DOIUrl":"10.3760/cma.j.cn115330-20240527-00312","url":null,"abstract":"","PeriodicalId":23987,"journal":{"name":"Chinese journal of otorhinolaryngology head and neck surgery","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142296841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
Chinese journal of otorhinolaryngology head and neck surgery
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