Miscellaneous

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  • 文章类型: Systematic Review
    目的:在癌症诊断前通过基因检测确定有遗传综合征风险的人可以积极降低癌症负担的发病率和死亡率。使用健康公平的框架,这项研究描述了出版和参考BRCA1/2基因检测指南(GTG)的全球格局。
    方法:本研究采用了系统的文献检索,辅以国际妇科癌症协会(IGCS)非正式调查,并与MyriadGenetics记录交叉引用,为了确定已发布的GTG,他们的原籍国,以及引用它们的国家。
    结果:在1011种确定的出版物中,166符合纳入标准,从中确定了46条独特的指南,由18个国家和两个地区(欧洲和英国)出版。来自美国的作者占GTG出版物的63%。系统制图审查显示,34个国家公布和/或引用了指南,IGCS调查显示另外22个国家,与MyriadGenetics的协调揭示了两个国家的更多信息和一个国家的主要信息。在评估的57个国家中,33%的人发布了自己的指南和来自其他国家/地区的参考指南。5%的人发布了自己的指南,但没有引用其他国家/地区。61%的人只引用了另一个国家/地区的指南。195个国家中的138个国家没有数据,不成比例地来自非洲,中东,东欧,和东南亚。
    结论:GTG的出版物和引用存在全球地理差异,在已发表的文献中非常重视北美和欧洲的指导方针。这些差异凸显了需要统一的BRCAGTG来改善全球卫生公平性。
    Identification of persons at risk for hereditary syndromes through genetic testing prior to cancer diagnosis may proactively reduce the cancer burden morbidity and mortality. Using a framework of health equity, this study characterizes the global landscape of publication and reference to BRCA1/2 genetic testing guidelines (GTG).
    This study used a systematic literature search supplemented by an International Gynecologic Cancer Society (IGCS) informal survey and cross referenced with Myriad Genetics records, to identify published GTG, their country of origin, and countries referencing them.
    Of 1011 identified publications, 166 met the inclusion criteria, from which 46 unique guidelines were identified, published by 18 countries and two regions (Europe and the UK). Authorship from the USA accounted for 63% of publications on GTG. Systematic mapping reviews revealed 34 countries with published and/or referenced guidelines, the IGCS survey revealed 22 additional countries, and coordination with Myriad Genetics revealed additional information for two countries and primary information for one country. Of the 57 countries evaluated, 33% published their own guidelines and reference guidelines from another country/region, 5% published their own guidelines without referencing another country/region, and 61% only referenced a guideline from another country/region. No data were available for 138 of 195 countries, disproportionately from Africa, the Middle East, Eastern Europe, and Southeast Asia.
    Global geographic disparities in the publication and referencing of GTG exist, with a large emphasis on North American and European guidelines in the published literature. These disparities highlight a need for uniform BRCA GTG to improve global health equity.
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  • 文章类型: Case Reports
    UNASSIGNED: Report a series of cases in which patients have concomitant superior semicircular canal dehiscence (SSCD) and a dehiscent tegmen tympani with Dural contact to the malleus head (DCMH).
    UNASSIGNED: An analysis of radiologic and audiologic data in 4 patients who presented with SSCD and DCMH at a tertiary care institution. A pertinent literature review was performed.
    UNASSIGNED: Four patients (5 ears) had SSCD and DCMH. In 3 patients with unilateral DCMH, the mean maximum air-bone gap was 15 dB in the ear with DCMH compared to 50 dB in the ear without DCMH. Of the 5 ears with DCMH, the mean air conduction threshold at 250 Hz was 17 dB compared to 42 dB in the 3 ears without DCMH.
    UNASSIGNED: We report the findings of DCMH in a series of 4 patients with bilateral SSCD. This limited series suggests that ears with SSCD and DCMH have less of an air-bone gap than would be expected, as 1 would expect an additive effect of DCMH and SSCD on the air-bone gap.
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  • 文章类型: Case Reports
    气管发育不全(TA)很少见,通常是致命的。很少有合并气管食管瘘(TEF)的幸存者接受了远端食道结扎,并从近端食道产生吐痰瘘和新气管。我们报告了一种新颖的手术技术,其中将食道纵向分开以保留功能性营养道和平行的新气管。我们回顾了报告病例的文献,包括12个月以上的幸存者.
    病例报告和文献复习。
    一名产前羊水过多的女婴在妊娠35周时出生,立即出现呼吸窘迫和无哭闹。用喉罩气道维持氧合。尽管喉部表现正常,她无法插管,紧急颈部探查显示没有颈部气管。患者接受了体外膜氧合(ECMO)治疗,后来被诊断为TA,弗洛伊德I型。父母对重建的渴望,但拒绝吐痰瘘需要一种新颖的手术。食道通过微型吻合器纵向分开,以保留原始消化道,并创建一个平行的新气管,该气管起源于TEF并终止为子宫颈造口。愈合过程很复杂,但婴儿最终出院回家,在那里她的神经系统发育正常,直到一个晚上在16个月大的时候因意外拔管而屈服。
    我们描述了一种新的治疗TA的手术方法。这包括避免产生吐痰瘘和保留天然食道。然后我们调查文献,报告174例报告的TA的生存时间和手术管理。
    UNASSIGNED: Tracheal agenesis (TA) is rare and usually fatal. Few survivors with concomitant tracheoesophageal fistulae (TEF) who underwent ligation of the distal esophagus with creation of a spit-fistula and neo-trachea from the proximal esophagus exist. We report a novel surgical technique whereby the esophagus is divided longitudinally to preserve a functional alimentation tract and a parallel neo-trachea. We review the literature of reported cases, including survivors beyond 12 months.
    UNASSIGNED: Case report and literature review.
    UNASSIGNED: A female infant with prenatal polyhydramnios was born at 35 weeks gestation with immediate respiratory distress and absent cry. Oxygenation was maintained with a laryngeal mask airway. Despite a normal appearing larynx, she could not be intubated and emergent neck exploration disclosed no cervical trachea. The patient was placed on extra corporeal membranous oxygenation (ECMO), and later diagnosed with TA, Floyd Type I. Parental desire for reconstruction but refusal of a spit-fistula necessitated a novel procedure. The esophagus was divided longitudinally via a microstapler to preserve the original alimentary tract and create a parallel neo-trachea originating from the TEF and terminating as a cervical stoma. The healing process was complicated but the baby was ultimately discharged to home where she developed normally neurologically until succumbing one night to accidental decannulation at 16 months of age.
    UNASSIGNED: We describe a novel surgical approach to manage TA. This includes avoiding creation of a spit fistula and preserving the native esophagus. We then survey the literature, reporting the survivorship duration and operative management of 174 reported cases of TA.
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  • 文章类型: Journal Article
    UNASSIGNED: Telemedicine allows for the remote delivery of patient care and has been found to have a wide range of uses in otolaryngology. In order to achieve best practices in telemedicine, a platform must be effective and both patients and providers must be satisfied with the use of technology. As telemedicine becomes more widely used in otolaryngology clinics, particularly in the face of the current COVID-19 pandemic, it is important to assess its applicability in this field. The goal of this study was to evaluate existing literature on telemedicine and assess overall image quality, diagnostic concordance, and patient and provider satisfaction with telemedicine technologies.
    UNASSIGNED: A systematic review was conducted on PubMed and MEDLINE according to the PRISMA 2009 guidelines for articles from 1982 to 2019 relating to telemedicine in otolaryngology. English language studies with primary or secondary endpoints pertaining to image quality, diagnostic concordance, or patient or provider satisfaction were included. Descriptive studies, editorials, and literature reviews were excluded.
    UNASSIGNED: A total of 32 studies were included in our review. Studies assessing imaging quality and diagnostic concordance reported adequate results but with some heterogeneity. Patient and provider satisfaction were consistently high.
    UNASSIGNED: The literature supports telemedicine delivery of otorhinolaryngologic care as having achieved high rates of patient and provider satisfaction with adequate image quality and heterogeneity in diagnostic concordance. Variability in diagnostic accuracy was reported, but appears improved given proper clinical context. More standardized studies are needed specific to telemedicine in the field of otolaryngology.
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  • 文章类型: Journal Article
    Over the past several years there has been considerable interest in the relation between emotion dysregulation and non-suicidal self-injury (NSSI), particularly given that rates of NSSI have been increasing and NSSI is a critical risk factor for suicidal behavior. To date, however, no synthesis of empirical findings exists.
    The present study presents a comprehensive meta-analytic review of the literature on the association between NSSI and emotion dysregulation. A total of 48 publications, including 49 independent samples, were included in this analysis.
    Overall, a significant association was found between emotion dysregulation and NSSI (pooled OR = 3.03 [95% CI = 2.56-3.59]). This association was reduced but remained significant (OR = 2.40 [95% CI = 2.01-2.86]) after adjustment for publication bias. Emotion dysregulation subscales most strongly associated with NSSI included limited access to regulation strategies, non-acceptance of emotional responses, impulse control difficulties, and difficulties engaging goal-directed behavior. Lack of emotional awareness/clarity and cognitive aspects of dysregulation yielded weaker, yet significant, positive associations with NSSI.
    Findings support the notion that greater emotion dysregulation is associated with higher risk for NSSI among individuals across settings, regardless of age or sex. Furthermore, findings reveal facets of dysregulation that may have unique implications for NSSI. This meta-analysis highlights the importance of better understanding emotion dysregulation as a treatment target for preventing NSSI.
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  • 文章类型: Case Reports
    BACKGROUND: Lingual thyroid cancer is a rare entity with a paucity of literature guiding methods of surgical treatment. Its location presents anatomic challenges with access and excision.
    OBJECTIVE: We present a case of T4aN1b classical variant papillary thyroid carcinoma of the lingual thyroid that was removed without pharyngeal entry. We also present a review of the literature of this rare entity and propose a treatment algorithm to provide safe and oncologic outcomes.
    RESULTS: Our review of the literature found 28 case reports of lingual thyroid carcinoma that met search criteria. The trans-cervical/trans-hyoid approach was the most frequently used and provides safe oncologic outcomes. This was followed by the transoral approach and then lateral pharyngotomy. Complications reported across the series include 1 case of pharyngocutaneous fistula associated with mandibulotomy and postoperative respiratory distress requiring reintubation or emergent tracheostomy in 2 patients.
    CONCLUSIONS: The location of lingual thyroid carcinoma can be variable, and surgical management requires knowledge of adjacent involved structures to decrease the risk of dysphagia and airway compromise. In particular, for cases where there is extensive loss to swallowing mechanisms, laryngeal suspension can allow the patient to resume a normal diet after treatment.
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  • 文章类型: Case Reports
    BACKGROUND: Helmet use is well known to greatly reduce the risk of head injury in both bicycle and motorcycle riding. However, helmet buckle position may increase the risk of injury to the neck cartilages. We present a series of cases in which thyroid cartilage fracture is presumed to arise from the position of the helmet buckle during a crash. Our objective with this case series is to outline an unusual series of cases and review the literature regarding laryngeal injuries secondary to helmet impact.
    METHODS: Single institution case series.
    METHODS: We present 3 adult patients with laryngeal fractures following bicycle and motorcycle accidents. Medical records were reviewed for history.
    RESULTS: All patients in this series presented with voice or swallowing complaints and were found to have thyroid cartilage fractures. It was determined that the buckle of the helmet was positioned overlying the larynx during these accidents, so the impact and flexion of the head and neck may have produced sufficient force against it to fracture the cartilage. A literature search yielded works supporting helmet use for head and brain protection but only a single report of laryngeal injuries secondary to helmet use.
    CONCLUSIONS: Though wearing a helmet is protective against head injuries, it may create serious risk to the neck cartilages when the buckle is positioned adjacent to the larynx. Rare but serious, neck cartilage fracture should be considered in helmeted cycling accidents. It may be reasonable to advance a helmet design that positions the buckle and other nonpliable components laterally, away from neck cartilages.
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  • 文章类型: Case Reports
    BACKGROUND: Epidermolysis bullosa (EB) is a spectrum of mechanobullous disorders characterized by blistering following minor trauma or traction to the skin. Hearing loss in this population is poorly described in the otolaryngology literature, and its treatment oftentimes results in external auditory canal skin irritation.
    METHODS: We present the case of a 26-year-old female with EB and mixed hearing loss unable to wear conventional hearing aids due to sequelae of the external auditory canals. An osseointegrated implant was used as other hearing aids were deemed to be too destructive of the external auditory canal skin. Management and Outcome: Our patient underwent placement of a right bone-anchored hearing aid with minimal disruption of the surrounding skin using a minimally invasive punch technique. Over 1 year of follow-up, her course was complicated by 1 simple cellulitic infection at the surgical site treated successfully with oral antibiotics.
    CONCLUSIONS: The literature regarding the otolaryngologic manifestations of EB is sparse. The otologic sequelae are particularly overlooked in the workup and management. Based on the results of this case study, it appears that an osseointegrated implant can be safely utilized to treat significant mixed or conductive hearing loss in patients with EB.
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