Πέμπτη 24 Φεβρουαρίου 2022

Endotype-based surgical treatment of chronic rhinosinusitis

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Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022 Feb 7;57(2):130-135. doi: 10.3760/cma.j.cn115330-20210819-00561.

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PMID:35196755 | DOI:10.3760/cma.j.cn115330-20210819-00561

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A case of Smith-Magenis syndrome

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本文分析1例Smith-Magenis综合征患儿在耳鼻咽喉方面的临床特点。患儿,女,9岁,因"反复咽痛约1个月"就诊于吉林大学第二医院。平日睡眠周期短,动作多,说话声音嘶哑。体检见身体多个部位发育异常包括独特的面部特征如方脸、眼睛深陷、下颚偏大、鼻梁塌陷、唇外翻、下颌前突,短指/趾畸形,身材矮小,睡眠障碍,刻板行为发育迟缓、智力低下,语言能力发育迟滞及隐性脊柱裂。常规染色体核型为46,XX,高分辨染色体核型分析17号染色体短臂p11.2存在大小约3.5M缺失,分子核型为46,XX,arr17p11.2(16705818-20178312)*1。因其发病率低,在耳鼻咽喉方面极少报道,本文通过对所收治的1例SMS患儿的全身特点及耳鼻咽喉方面的特征进行分析,以期提高对该病的认知。.

This article analyzes the clinical characteristics of otolaryngology in a child with Smith-Magenis syndrome. The patient, female, 9 years old, was admitted to the Second Hospital of Jilin University because of "repeated sore throat for about 1 month". On weekdays, the sleep cycle is short, there are many movements, and the voice is hoarse. Physical examination revealed developmental abnormalities in multiple parts of the body including distinctive facial features such as square face, sunken eyes, enlarged jaw, collapsed nasal bridge, lip eversion, mandibular protrusion, brachydactyly, short stature, sleep disturbance, stereotyped behavior Developmental delay, mental retardation, language retardation and spina bifida. The conventional karyotype is 46, XX. The high-resolution karyotype analysis shows that there is a deletion of about 3.5M in the short arm p11.2 of chromosome 17. The molecular karyotype is 46, XX, arr17p11.2 (16705818-20178312)*1. Due to its low incidence, it is rarely reported in the field of ENT. This article analyzes the systemic and ENT characteristics of a patient with SMS in order to improve the awareness of the disease. .

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022 Feb 7;57(2):210-211. doi: 10.3760/cma.j.cn115330-20210730-00501.

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PMID:35196768 | DOI:10.3760/cma.j.cn115330-20210730-00501

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Airway management in patients with lingual thyroid: a case report and review of the literature

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Eur Arch Otorhinolaryngol. 2022 Feb 24. doi: 10.1007/s00405-022-07310-0. Online ahead of print.

ABSTRACT

PURPOSE: To review the management of patients with lingual thyroid (LT) causing upper airway obstruction and to suggest a diagnostic and therapeutic workflow.

METHODS: A PubMed review of published cases from January 1980 up to December 2020 of LT causing upper airway obstruction. We selected cases of confirmed LTs that presented with non-state-dependent airway obstruction. An illustrative case report is presented.

RESULTS: Twenty-one articles fulfilling the inclusion criteria were found, reporting 24 cases (7 neonatal, 2 pediatric and 15 adults). The main presenting symptoms was dyspnea with increased work of breathing, followed by dysphagia and stridor most commonly in neonates. At least one imaging modality was performed in all patients. Thyroid function was altered in half the patients and normal in the other half. Th e LT was the only thyroid tissue in all cases except 2. Altogether, 5/24 patients required tracheostomies and two-thirds of the patients underwent surgical resection of the LT (mostly transoral). Also 2/3 of the patients received thyroid replacement therapy. After a median follow-up of 17 months, airway symptoms had fully resolved for all patients but one.

CONCLUSION: While rare, ectopic LTs should be considered in the differential diagnosis of stridor, dyspnea and airway obstruction. In neonates, concomitant presence of hypothyroidism on neonatal screening and airway obstruction should prompt the search for a LT. Early identification and thyroid replacement therapy seem to significantly relieve symptoms of upper airway obstruction, but severe obstruction and concomitant airway lesions may require more definitive management approaches.

PMID:35201391 | DOI:10.1007/s00405-022-07310-0

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Phase II study of apatinib combined with temozolomide in patients with advanced melanoma after failure of immunotherapy

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Objective Treatment for advanced melanoma after progression on immunotherapy is limited. This phase II trial (NCT03422445) was conducted to evaluate the efficacy and safety of apatinib plus temozolomide in patients with advanced melanoma after failure of immunotherapy. Methods Patients with unresectable stage III or stage IV melanoma after progression on immunotherapy were treated with temozolomide 300 mg on days 1–5 and apatinib 500 mg daily every 28-day cycle until disease progression or intolerable toxicities. Besides immunotherapy, prior chemotherapy, targeted therapy, and clinical trials were allowed. The primary endpoint was progression-free survival. Secondary endpoints were objective response rate, disease control rate, overall survival, and safety. Results Of 29 patients, 28 (96.6%) had metastatic diseases, and the predominant subtypes were mucosal [12 (41.4%)] and acral melanoma [eight (27.6%)]. Five (17.2%) patients showed BRAF, CKIT, or NRAS mutation. Five achieved confirmed partial response, with an objective response rate of 17.2%. The disease control rate was 82.8%. The median progression-free survival was 5.0 months [95% confidence interval (CI): 4.7–5.3], and the median overall survival was 10.1 months (95% CI: 5.1–15.0). Grade 3–4 treatment-related adverse events included proteinuria [four (13.8%)], thrombocytopenia [two (6.9%)], hypertension [one (3.4%)], and hyperbilirubinemia [one (3.4%)]. No treatment-related death occurred. Conclusion Apatinib plus temozolomide demonstrated promising efficacy and manageable safety profile in patients with advanced melanoma after progression on immunotherapy. * Li Zhou and Yue Yang contributed equally to the writing of this article and are the co-first authors. Supplemental Digital Content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's website, www.melanomaresearch.com. Received 11 November 2021 Accepted 25 January 2022 Correspondence to Chuanliang Cui, Department of Renal Cancer and Melanoma, Peking University Cancer Hospital and Institute, Beijing, China, Tel: +8610 88196317 -mail: 1008ccl@163.com Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.
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