遗传性出血性毛细血管扩张症Smad4基因的筛查

目的检查遗传性出血性毛细血管扩张症(HHT)患者中Smad4基因突变及听力情况。方法根据2000年Shovlin提出的临床诊断标准,对7例ENG和ACVRL1基因筛查均阴性的HHT患者进行Smad4基因筛查和听力检查。结果 7例患者smad4基因测序均未发现突变位点,2例患者除严重鼻出血外还伴肝脏血管畸形,7例患者均无听力障碍、胃肠出血者及肠息肉患者。结论 Smad4基因与HHT、耳聋的相关性值得进一步研究,为疾病诊疗提供新的思路。     

Hereditary haemorrhagic telangiectasia—microembolization in the management of epistaxis

The use of microembolization in the management of epistaxis due to hereditary haemorrhagic telangiectasia is described.     

Argon plasma surgery for the inferior turbinate of patients with perennial nasal allergy

OBJECTIVES: Argon plasma coagulation (APC) is a new electrosurgical modality. The advantages of APC are coagulating of the target tissue without contact and the creation of uniformly deep devitalized and coagulated zones. The objectives of the present study were to determine the clinical effects of APC for the inferior turbinate of patients with nasal allergy and to clarify the histological changes in the mucosa after APC. STUDY DESIGN: In a prospective study, 95 patients with perennial nasal allergy were treated with APC. Nasal symptoms and intranasal findings were evaluated preoperatively and 1, 3, and 6 months, and 1 year after the APC. Mucosal specimens from the turbinates were examined under light and electron microscopy. RESULTS: Nasal stuffiness was improved in 77 of 79 (97.5%) patients after 1 month, in 50 of 51 (98.0%) patients after 3 months, in 20 of 23 (87.0%) patients after 6 months, and in 9 of 12 (75.0%) patients at 1 year after the APC. Rhinorrhea was improved in 46 of 75 (61.3%) patients after 1 month, in 40 of 51 (78.4%) patients after 3 months, in 16 of 21 (76.2%) patients after 6 months, and in 6 of 10 (60.0%) patients at 1 year after the APC. The sneezing was improved in 32 of 54 (59.3%) patients after 1 month, in 21 of 35 (60.0%) patients after 3 months, in 10 of 14 (71.4%) patients after 6 months, and in 6 of 8 (75.0%) patients at 1 year after the APC. In the intranasal findings, congestion of the inferior turbinate improved in 75 of 76 (98.7%) patients after 1 month, in 49 of 52 (94.2%) patients after 3 months, in 20 of 23 (87.0%) patients after 6 months, and in 7 of 11 (63.6%) patients at 1 year after the APC. The nasal discharge was reduced in 40 of 75 (53.3%) patients after 1 month, in 32 of 52 (61.5%) patients after 3 months, in 15 of 22 (68.2%) patients after 6 months, and in 5 of 11 (45.5%) patients at 1 year after the APC. No patients needed nasal packing after the APC. CONCLUSIONS: This is the first report on the clinical effects of turbinate surgery for nasal allergy using APC. APC was useful fer turbinate surgery of nasal allergy, especially for nasal stuffiness and congestion of the turbinate.     

Usefulness of Rigid Bronchoscopic Intervention Using Argon Plasma Coagulation for Central Airway Tumors

Objectives

Argon plasma coagulation (APC) is a noncontact form of electrocautery that utilizes ionized argon as the electrical current. A rigid bronchoscopic use of APC for the management of central airway obstruction could be safe and rapidly effective. This study evaluated the usefulness of rigid bronchoscopy with APC for the management of central airway obstructions due to benign or malignant tumors.

Methods

Twenty patients with obstructing central airway tumors were retrospectively reviewed from February 2008 to February 2013 at Chonnam National University Hospital. All patients received rigid bronchoscopic tumor removal under general anesthesia. APC was applied before and after tumor removal.

Results

The median age of patients was 59 years (interquartile range [IQR], 51 to 67 years) and 70% were female. The causes of airway obstruction included malignancy (n=8) and benign tumor (n=12). Airway tumors comprised intraluminal lesions (n=11, 55%) and mixed intraluminal/extraluminal lesions (n=9, 45%). The median tumor size was 15 mm (IQR, 10 to 18 mm). The median degree of airway obstruction was significantly reduced after intervention (90% [IQR, 88% to 96%] vs. 10% [IQR, 0% to 20%], P<0.001). The median American Thoracic Society dyspnea grade (3 [IQR, 1 to 4] vs. 1 [IQR, 0 to 1], P<0.001) and forced expiratory volume in one second (1.03 L [IQR, 0.52 to 1.36 L] vs. 1.98 L [IQR, 1.57 to 2.64 L], P=0.004) were significantly improved after intervention. There were no procedure-related acute complications and deaths.

Conclusion

Rigid bronchoscopy with APC is an effective and safe procedure to alleviate central airway obstruction caused by tumors.     

《遗传性出血性毛细血管扩张症诊断和治疗国际指南（第2版）》介绍[指南快译]

遗传性出血性毛细血管扩张症（hereditary hemorrhagic telangiectasia,HHT）是一种常染色体显性遗传病,患病率约为1/5000,其特征是多发的血管畸形（vascular malformations,VMs）。VMs可导致急性和慢性大量出血、动静脉畸形等并发症。2009年首版HHT诊断和治疗国际指南发布,为HHT的诊断、并发症的预防、症状的治疗建立循证共识和指南。第2版指南由来自15个国家的55位专家针对6个优先主题领域（鼻出血、胃肠道出血、贫血和缺铁、肝脏VMs、儿科管理、妊娠和分娩）提出许多新建议。这些建议突出了第1版国际HHT指南的新证据,并在3个新领域（贫血和缺铁、儿科管理、妊娠和分娩）提出了指导意见。     

Hereditary hemorrhagic telangiectasia: a review of 76 cases

OBJECTIVES/HYPOTHESIS: Hereditary hemorrhagic telangiectasia has long been viewed as a rare condition. Recent evidence indicates that the disorder is more frequent than previously thought. Recalcitrant epistaxis is a salient feature of this disease, and the otolaryngologist is often called on to make the diagnosis and guide the primary management of patients with hereditary hemorrhagic telangiectasia. Wider recognition of this condition, awareness of the natural history and associated findings, appropriate workup and screening for arteriovenous malformations (lungs, brain, liver), and knowledge of appropriate interventions can help avoid the considerable morbidity associated with hereditary hemorrhagic telangiectasia. STUDY DESIGN: Retrospective review. METHODS: Records of patients treated by the senior author (S.M.S.) for hereditary hemorrhagic teleangiectasia from 1993 to 2000 were reviewed. RESULTS: Seventy-six patients were identified, 98% of whom had epistaxis as their presenting complaint, with 75% having a family history of hereditary hemorrhagic telangiectasia. The severity of epistaxis varied in the patients: 66% had mild, 21% moderate, and 13% severe epistaxis. Sixty-four percent of patients had no transfusions, 25% had 1 to 10 transfusions, and 11% of patients had more than 10 transfusions. Complications of hereditary hemorrhagic telangiectasia were documented in 30% of patients. Screening for arteriovenous malformations was performed in only 34% of patients. Eighty-two percent of patients received a variable number of Nd:YAG laser treatments. CONCLUSIONS: The study presents the largest retrospective review of patients treated for hereditary hemorrhagic telangiectasia by a single otolaryngologist. The importance of a multidisciplinary approach facilitated by the otolaryngologist for evaluation of concomitant complications and morbidity (arteriovenous malformations) from hereditary hemorrhagic telangiectasia is demonstrated. An algorithm for controlling the epistaxis is presented.     

Hereditary hemorrhagic telangiectasias: a challenge for the clinician

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease) remains a challenge for all clinicians, as in about 80% of cases nasal bleeding is the first manifestation of this disease, which is characterized by a clinical triad of multiple telangiectasias, recurrent hemorrhages and familial occurrence. Although in the last few years there has been diagnostic and therapeutic progress, a cure for this rarely life-threatening but often burdening and handicapping disease is still not possible. We have reviewed head and neck presentations, diagnostic and therapeutic features, as well as new insights into the molecular genetics of the disease and local treatment now available. Received: 11 August 1998 / Accepted: 28 September 1998     

蝶腭动脉结扎术治疗难治性鼻出血的研究进展

内镜下行蝶腭动脉结扎术,对保守治疗无效的鼻后端出血是有效且安全的治疗方法。本文对蝶腭动脉结扎术的产生及发展、解剖学基础、手术操作过程、适应证、有效性及并发症等方面进行综述,深入理解蝶腭动脉结扎术治疗难治性鼻出血的解剖基础及临床实践的意义。蝶腭动脉结扎术治疗难治性鼻出血,其理论支持充分,解剖标志相对固定,临床操作简单,效果可靠。可在临床广泛应用。     

Intranasal topical estrogen in the management of epistaxis in hereditary hemorrhagic telangiectasia

Conclusion Application of topical estriol ointment is an effective treatment for hereditary hemorrhagic telangiectasia (HHT) epistaxis.

Objective HHT is an autosomal-dominant disease characterized by epistaxis in more than 96% of patients. Management of this major symptom, epistaxis, has not been standardized. This study reports experience with topical application of estriol in patients with HHT.

Methods Five patients with a confirmed diagnosis of HHT who first visited the hospital between 2012 and 2013 received 0.1% estriol ointment and were guided to apply the ointment twice daily to the anterior part of both nasal cavities. Severity of epistaxis was valued using epistaxis severity score (ESS) before and 3 months after initiating therapy.

Results Five patients (three males, two females) received treatment. After the initiation of treatment, intensity and frequency of epistaxis became moderate in all patients. ESS decreased significantly from pre- to post-treatment (p?=?0.043). No adverse events were recorded during follow-up.     

Long-term results of inferior turbinate reduction with argon plasma coagulation

OBJECTIVES: Surgical reduction of the inferior turbinates is a commonly used therapy in patients with hyperplastic inferior turbinates when medical management remains ineffective. Current surgical methods have disadvantages (e.g., necessity of nasal packing, extended postoperative swelling, and high costs). Theoretical considerations render argon plasma coagulation (APC) a promising new therapeutic approach. STUDY DESIGN: In a prospective study, 121 patients with chronic nasal obstruction were treated for inferior turbinate reduction with APC. Hyperplasia of the nasal turbinates was diagnosed rhinoscopically and endoscopically and confirmed rhinomanometrically. The mean follow-up period was 12 months, ranging from 10 to 16 months. The treatment results were evaluated by a questionnaire, rhinomanometric findings, and electron microscopic studies of the nasal mucosa. In 50 patients a ciliary function test was performed preoperatively and postoperatively. METHODS: Argon plasma coagulation, a high-frequency electrosurgery, has been used for volume reduction of the inferior turbinate in local anesthesia. RESULTS: Seventy-six percent of the patients reported an improvement of the postoperative swelling within the first week. After 6 weeks, macroscopically the turbinates were re-epithelialized by normal mucosa in 63% of the patients. Electron microscopic studies after 3 months verified normal cilia. After 12 months, 83% of the patients stated that they had a better nasal airflow than preoperatively. Crust formation was minimal. No bleeding or impaired ciliary function occurred. Ninety-five percent of the patients were willing to undergo the same operation again. CONCLUSION: The long-term results have proved APC to be an effective and easy-to-perform alternative for inferior turbinate reduction with comparable results to other established surgical methods.     

The combined use of two RapidRhino packs instead of anteroposterior packing for the control of severe epistaxis

Epistaxis is a common ear, nose, and throat emergency, and severe cases are traditionally controlled by the placement of anteroposterior nasal packing. In this article, a way of controlling severe epistaxis with the combination of two RapidRhino packs is described. Although not always successful, it is a technique that in the majority of patients can control severe bleeding faster, easier, with decreased pain, and increased patient comfort, compared to the traditional anteroposterior nasal packing.