congenital nasolacrimal duct obstruction

  • 文章类型: Journal Article
    这项前瞻性观察性研究旨在通过检查泪囊造影(DCG)图像来探索先天性鼻泪管阻塞(CNLDO)患者泪道形态的多样性。
    该研究包括64例患者,这些患者在接受单侧CNLDO的全身麻醉探查之前接受了DCG。从DCG图像的侧视图测量了几个参数:(1)泪囊(LS)和鼻泪管(NLD)角度,(2)上轨道边缘(SOR)形成的角度,LS,还有NLD,(3)LS长度,和(4)骨NLD长度。此外,DCG图像的正面视图用于测量(5)LS-NLD角和(6)关于中线的LS角。
    患者的平均年龄为34.3个月。上述参数测量的平均值±标准偏差为(1)-1.2°±16.5°(范围:-44.6°±46.6°),(2)-5.0°±10.3°(范围:-24.0°±19.0°),(3)10.2±2.4mm(范围:6.5-16.0mm),(4)8.0±2.5mm(范围:3.1-14.8mm),(5)15.6°±11.2°(范围:-16.8°±41.0°),(6)15.1±5.2°(范围:3.3°-29.8°)。所有参数,除参数(3)外,符合正态分布。
    这项研究提供了来自DCG图像的有价值的人体测量数据,强调CNLDO患者泪道形态的实质性变异性。此外,解剖学上的限制使得在本研究中25.0%的患者中,使用直金属探查在解剖学上不可行。
    了解泪道的形态对于先天性鼻泪管阻塞(CNLDO)患者的成功探查治疗至关重要。这项研究代表了通过泪囊造影图像量化泪道引流系统人体测量参数的初步努力,专门旨在突出盲检程序的局限性。结果强调了患者泪道引流系统形态的显着差异,这可能会影响诊断方法和治疗策略。此外,研究结果表明,对盲检无反应的CNLDO患者可能存在潜在的解剖学复杂性.因此,而不是依靠重复的盲目探测,对于复杂的CNLDO病例,采用直视下的神经内镜引导探查可以提供更有效的治疗选择.
    UNASSIGNED: This prospective observational study aimed to explore the diversity in lacrimal pathway morphology among patients with congenital nasolacrimal duct obstruction (CNLDO) by examining dacryocystography (DCG) images.
    UNASSIGNED: The study included 64 patients who underwent DCG before undergoing general anesthesia probing for unilateral CNLDO. Several parameters were measured from the lateral view of the DCG images: (1) the lacrimal sac (LS) and the nasolacrimal duct (NLD) angle, (2) the angle formed by the superior orbital rim (SOR), LS, and the NLD, (3) LS length, and (4) bony NLD length. Additionally, frontal views of the DCG images were utilized to measure (5) LS-NLD angle and (6) LS angle concerning the midline.
    UNASSIGNED: The average age of the patients was 34.3 months. The mean ± standard deviation of the measurements of the above parameters was (1) -1.2° ± 16.5° (range: -44.6° ± 46.6°), (2) -5.0° ± 10.3° (range: -24.0° ± 19.0°), (3) 10.2 ± 2.4 mm (range: 6.5-16.0 mm), (4) 8.0 ± 2.5 mm (range: 3.1-14.8 mm), (5) 15.6° ± 11.2° (range: -16.8° ± 41.0°), and (6) 15.1 ± 5.2° (range: 3.3°-29.8°). All parameters, except for parameter (3), conformed to a normal distribution.
    UNASSIGNED: This study provides valuable anthropometric data derived from DCG images, highlighting the substantial variability in lacrimal pathway morphology among patients with CNLDO. Furthermore, anatomical constraints made probing with a straight metal bougie anatomically infeasible in 25.0% of the patients included in this study.
    Understanding the morphology of the lacrimal pathway is crucial for the successful probing treatments in patients with congenital nasolacrimal duct obstruction (CNLDO). This study represents an initial effort to quantify anthropometric parameters of the lacrimal drainage system through dacryocystography images, specifically aiming to highlight the limitations of blind probing procedure. The results underscore significant variations in the morphology of the lacrimal drainage system among patients, which could impact diagnostic approaches and treatment strategies. Additionally, the findings suggest that patients with CNLDO who do not respond to blind probing may have underlying anatomical complexities. Therefore, rather than relying on repeated blind probing, employing dacryoendoscopy-guided probing under direct visualization could offer a more effective therapeutic alternative for complicated cases of CNLDO.
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  • 文章类型: Journal Article
    评估儿科人群先天性鼻泪管阻塞(CNLDO)患者的治疗,并回顾5年间隔的长期结局,特别强调21三体和没有21三体的患者之间的差异。
    这种单中心,回顾性,横截面,病例回顾研究包括AlderHey儿童医院NHS基金会信托基金的CNLDO患者。患者分为两组:非三体性21和三体性21。患者随访60个月。手术时年龄<12个月的患者,随访数据<60个月的患者和获得性鼻泪管阻塞的患者被排除在外.主要结局指标是接受注射器和探针(S&P)主要干预的患者的出院率,需要进行泪道插管或泪囊鼻腔造口术(DCR)进一步治疗的患者人数以及治疗后的总体无症状期。
    93例患者(142只眼)。手术干预的平均次数为1.53±0.65。第一次和第二次干预之间的平均间隔为15.54±16.33个月。与21三体患者相比,非21三体患者的成功率有更高的趋势(p=0.1352)。最终干预后的平均无症状期为44.31±20.68个月,与21三体组相比,非21三体组明显更长(p=0.0074)。
    初次标准普尔后的总体成功率为55.9%。我们的结果表明,在患有CNLDO的21三体患者中,应考虑采用原发性单管段插管的一阶段干预,而不是序贯方法.
    UNASSIGNED: To assess the management of patients with congenital nasolacrimal duct obstruction (CNLDO) in a paediatric population and review the long-term outcomes over a 5-year interval, with particular emphasis on the difference between patients with trisomy 21 and those without trisomy 21.
    UNASSIGNED: This single-centre, retrospective, cross-sectional, case review study included patients suffering from CNLDO at Alder Hey Children\'s Hospital NHS foundation Trust. Patients were divided into two groups: Non-trisomy 21 and trisomy 21. Patients were followed-up for a 60-month interval. Patients aged <12 months at the time of surgery, patients with <60 months of follow-up data and patients with acquired nasolacrimal duct obstruction were excluded. The main outcome measures were discharge rates in patients undertaking primary intervention with syringe and probe (S&P), number of patients requiring further treatment with lacrimal intubation or dacryocystorhinostomy (DCR) and overall symptom-free periods post-treatment.
    UNASSIGNED: Ninety-three patients (142 eyes) were included. The mean number of surgical interventions was 1.53 ± 0.65. The mean interval between the 1st and 2nd intervention was 15.54 ± 16.33 months. There was a trend towards greater success rates non-trisomy 21 patients versus patients with trisomy 21 (p = 0.1352). The average symptom-free period after the final intervention was 44.31 ± 20.68 months, significantly longer in the non-trisomy 21 group compared to the trisomy 21 group (p = 0.0074).
    UNASSIGNED: The overall success rate after primary S&P was 55.9%. Our results suggest that in trisomy 21 patients suffering from CNLDO, a one-stage intervention with primary monocanalicular intubation should be considered instead of sequential approach.
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  • 文章类型: Journal Article
    支持颅面畸形患者先天性鼻泪管阻塞(CNLDO)治疗建议的数据很少。这项研究报告了发病率,临床特征,以及伴有颅面部异常和CNLDO的患者的结局。
    这个多中心,回顾性,基于人群的队列研究纳入了美国一个县10年内所有6岁之前诊断为CNLDO的患者.
    在研究期间的17713例活产中,1998年婴儿被诊断出患有CNLDO,其中41人(2.05%)患有先天性颅面畸形,每10,000例活产婴儿的出生患病率为23.1(95%CI16.6-31.4)。与无并发症的CNLDO(3.7个月;p=0.035)相比,颅面患者在诊断时(6.2个月)明显更老。自发CNLDO分辨率的平均年龄没有显着差异,但是31.7%的颅面患者需要探测CNLDO分辨率,与CNLDO组的14.5%相比(OR2.76[95CI1.41-5.39]p=0.003)。除两名颅面异常患者外,所有患者在初次探查后症状均得到缓解。术中探查结果表明,13例颅面部患者中有8例存在复杂的阻塞。
    自发解决的相似年龄表明,即使在颅面畸形患者中,观察等待大约一岁也是一种合理的方法,尽管这些患者中可能有更多需要手术干预。
    UNASSIGNED: Data supporting treatment recommendations for congenital nasolacrimal duct obstruction (CNLDO) in patients with craniofacial abnormalities is scarce. This study reports the incidence, clinical features, and outcomes of patients with concomitant craniofacial abnormalities and CNLDO.
    UNASSIGNED: This multi-center, retrospective, population-based cohort study included all patients diagnosed with CNLDO before age 6 during a 10-year period in a single US county.
    UNASSIGNED: Of the 17,713 live births during the study period, 1998 infants were diagnosed with CNLDO, among whom 41 (2.05%) had associated congenital craniofacial abnormalities, yielding a birth prevalence of 23.1 (95% CI 16.6-31.4) per 10,000 live births. Craniofacial patients were significantly older at time of diagnosis (6.2 months) compared to uncomplicated CNLDO (3.7 months; p = 0.035). There was no significant difference in mean age at spontaneous CNLDO resolution, but 31.7% of craniofacial patients required probing for CNLDO resolution, compared to 14.5% in the CNLDO group (OR 2.76 [95%CI 1.41-5.39] p = 0.003). All but two patients with craniofacial abnormalities had resolution of symptoms after initial probing. Intraoperative probing findings indicated that 8 of 13 craniofacial patients had complex obstructions.
    UNASSIGNED: The similar age at spontaneous resolution indicates that watchful waiting until approximately one year of age is a reasonable approach even in patients with craniofacial abnormalities, though more of these patients may require surgical intervention.
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  • 文章类型: Journal Article
    目的:本研究的目的是分析不同因素对先天性鼻泪管阻塞(CNLDO)探通成功率的影响。
    方法:对2014年至2019年接受CNLDO探查的202例患者的239只眼进行回顾性分析。患者分为三个年龄组(12-24个月,25-36个月,超过36个月)和两组基于膜性梗阻(MO)和不完全复杂梗阻(ICO)的类型,完全复杂梗阻(CCO)病例被排除。该研究涉及在探查过程中对所有参与者进行全身麻醉(GA)。然后在手术后以预定的间隔监测患者长达6个月。成功被定义为症状和体征的改善,采用logistic回归和Fisher精确检验进行统计分析。
    结果:患者的平均年龄为25.48±13.38个月,总成功率为86.61%。MO的成功率为92.8%,95.87%,1、2和3年龄组分别为97%。ICO的成功率为91.17%,80%,1、2和3年龄组分别为23.52%。在所有年龄组中,MO的成功率均显着高于ICO。3岁年龄组ICO的成功率明显较低(p=0.009)。
    结论:研究发现,无论年龄和梗阻类型如何,在最初36个月内进行探查都具有很高的成功率。然而,在36个月或更晚接受ICO探查的患者中,成功率显著下降.
    OBJECTIVE: The objective of this study was to analyze the impact of different factors on the success rate of probing for congenital nasolacrimal duct obstruction (CNLDO).
    METHODS: A retrospective analysis was conducted on 239 eyes of 202 patients who underwent probing for CNLDO between 2014 and 2019. Patients were divided into three age groups (12-24 months, 25-36 months, and over 36 months) and two groups based on the type of membranous obstruction (MO) and incomplete complex obstruction (ICO), with complete complex obstruction (CCO) cases being excluded. The study involved administering general anesthesia (GA) to all participants during the probing procedure. The patients were then monitored at scheduled intervals for up to 6 months after the surgery. Success was defined as an improvement in symptoms and signs, and logistic regression and Fisher\'s exact test were used for statistical analysis.
    RESULTS: The mean age of the patients was 25.48 ± 13.38 months, and the total success rate was 86.61%. The success rate for MO was 92.8%, 95.87%, and 97% in age groups 1, 2, and 3, respectively. The success rate for ICO was 91.17%, 80%, and 23.52% in age groups 1, 2, and 3, respectively. The success rate for MO was significantly higher than ICO in all age groups. The success rate for ICO was significantly lower in age group 3 (p = 0.009).
    CONCLUSIONS: The study found that probing performed within the first 36 months had high success rates regardless of age and type of obstruction. However, the success rate significantly decreased in patients undergoing probing for ICO at 36 months or later.
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  • 文章类型: Journal Article
    这项研究评估了先有探查失败的儿童先天性鼻泪管阻塞(CNLDO)的一期阻塞策略的结果。目的是评估探测的成功率,气囊成形术(BDP),单管插管(MCI),和外部泪囊鼻腔吻合术(外部DCR)在同一麻醉阶段进行。
    回顾性分析包括55只眼(45例患者,年龄在12-120个月),在另一个中心进行初步调查。涉及探测的程序,探测加BDP,MCI和外部DCR。对于膜性梗阻(MO),该程序在探查后结束;对于不完全复杂梗阻(ICO),它包括BDP或MCI;对于完全复杂梗阻(CCO),执行外部DCR。成功率根据梗阻类型和年龄组进行评估。以症状和体征的改善作为成功的衡量标准。统计分析利用Kruskal-Wallis,费希尔的精确检验,和逻辑回归。
    所有程序的总体成功率为72.7%。MO的成功率为77.8%,ICO占66.7%,对于CCO来说是100%,为不同CNLDO类型的管理引入了一个有前途的观点。外部DCR表现出100%的成功率,强调其在CCO案例中的有效性。干预的成功率为77.8%,61.5%用于探测加BDP,MCI占73.1%,强调了一期梗阻治疗的可行性和成功性。年龄与成功率没有显着相关。
    基于一阶段阻塞的方法,这证明了治疗CNLDO的良好成功率,并在探测失败后引入了治疗策略的范式转变,强调了针对特定阻塞类型定制干预措施的重要性。该研究还强调了执行多个BDP的可行性和成本效益,MCI或在同一麻醉期间同时进行外部DCR手术,进一步强调了根据梗阻的性质定制治疗的关键作用。
    UNASSIGNED: This study evaluates the outcomes of a one-stage obstruction-based strategy for congenital nasolacrimal duct obstruction (CNLDO) in children who have prior probing failure. The objective is to assess the success rates of probing, balloon dacrioplasty (BDP), monocanalicular intubation (MCI), and external dacryocystorhinostomy (external DCR) performed in the same anesthesia session.
    UNASSIGNED: A retrospective analysis included 55 eyes (45 patients, aged 12-120 months) with initial probing at another center. Procedures involved probing, probing plus BDP, MCI, and external DCR. For membranous obstruction (MO), the procedure concludes after probing; for incomplete complex obstruction (ICO) it includes BDP or MCI; and for complete complex obstruction (CCO), external DCR is performed. Success rates were assessed based on obstruction types and age groups, with improvement in symptoms and signs as the measure of success. Statistical analysis utilized Kruskal-Wallis, Fisher\'s exact test, and logistic regression.
    UNASSIGNED: The overall success rate for all procedures was 72.7%. Success rates were 77.8% for MO, 66.7% for ICO, and 100% for CCO, introducing a promising perspective for the management of different CNLDO types. External DCR exhibited a 100% success rate, highlighting its effectiveness in cases of CCO. Success rates for interventions were 77.8% for probing, 61.5% for probing plus BDP, and 73.1% for MCI, emphasizing the feasibility and success of one-stage obstruction-based treatments. Age did not significantly correlate with success rates.
    UNASSIGNED: The one-stage obstruction-based approach, which demonstrated favorable success rates in treating CNLDO and introduced a paradigm shift in the treatment strategy after probing failure, underscores the importance of tailoring interventions to the specific obstruction type. The study also highlights the feasibility and cost-effectiveness of performing multiple BDP, MCI, or external DCR procedures concurrently during the same anesthesia session, further emphasizing the crucial role of customizing treatments based on the nature of the obstruction.
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  • 文章类型: Observational Study
    目的:先天性鼻泪管阻塞(CNLDO)是婴儿溢泪的最常见原因。在大多数情况下,通常在第1年结束时通过保守的管理完全解决。许多研究已经证实在生命的第一年期间症状的自发消退的高频率(80%-90%)。本研究的目的是确定泪囊按摩治疗CNLDO的有效性。
    方法:这项研究是在东亚一家三级医院进行的,历时5年。每1个月后接受泪囊按摩治疗并被诊断为CNLDO的婴儿。CNLDO的分辨率是通过对泪液的改善和荧光素染料消失试验来判断的。
    结果:经过保守管理,740例(86.75%)患儿经连续泪囊按摩3个月后完全恢复。一百零五名(12.31%)婴儿即使在12个月时也没有通过囊按摩恢复,在这种情况下进行探测。6例患者需要重复探查(0.07%)。两名患者没有康复,并进行了dacrocystorhinostic吻合术。约70.6%的婴儿在6个月内康复。早期的介绍年龄,发病率越低。
    结论:婴儿中CNLDO的发病率约为6%-20%。一些研究显示在生命的第一年内自发消退。在这项研究中,CNLDO囊按摩的症状缓解成功率为86.75%。在CNLDO中,保守管理应该是直到12个月大的一线治疗。
    OBJECTIVE: Congenital nasolacrimal duct obstruction (CNLDO) is the most common cause of epiphora in infants. It usually resolves completely by the end of 1st year with conservative management in most cases. Many studies have confirmed high frequency (80%-90%) of spontaneous resolution of symptoms during the 1st year of life. The aim of this study is to determine the effectiveness of the lacrimal sac massage in the treatment of CNLDO.
    METHODS: The study was done in a tertiary care hospital in eastern Asia over 5 years. Each infant presenting with epiphora and diagnosed as CNLDO was treated with lacrimal sac massage and reviewed after every 1 month. The resolution of CNLDO was judged by the improvement of epiphora and from the fluorescein dye disappearance test.
    RESULTS: Following conservative management, 740 (86.75%) infants recovered completely after 3 months of continuous lacrimal sac massvage. One hundred and five (12.31%) infants did not recover with sac massage even at 12 months, in which cases probing was done. Repeat probing was needed in six patients (0.07%). Two patients did not recover, and a dacrocystorhinostomy was carried out. About 70.6% of infants recovered within 6 months of age. Earlier the age of presentation, the lesser the morbidity.
    CONCLUSIONS: The incidence of CNLDO is about 6%-20% among infants. Several studies showed spontaneous resolution within 1st year of life. In this study, the success rate of resolution of symptoms in CNLDO with sac massage is 86.75%. Conservative management should be the first line of treatment till 12 months of age in CNLDO.
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  • 文章类型: Journal Article
    在这项回顾性研究中,对两组经硅胶管插管(STI)治疗先天性鼻泪管阻塞(CNDO)的患者进行对比分析。我们采用泪镜检查来观察一组的泪道。总的来说,纳入69例患者的85只眼(非泪镜检查41例患者中的52只眼和泪镜检查组28例患者中的33只眼)。临床特征,泪镜检查结果,和手术结果进行评估。整体STI成功率为91.8%,泪镜组成功率明显高于非泪镜组(97.0%和88.5%,分别)。对于年龄<36个月的患者,成功率为100%(23只眼)。所有Hasner瓣膜膜性阻塞的患者年龄均小于36个月,并且存在泪道引流系统(LDS)的结构性阻塞(p=0.04)。然而,没有Hasner瓣膜阻塞的患者,LDS分泌(50.0%)和结构(50%)阻塞的发生率相似,这并不因年龄而异。神经内镜辅助的STI增强了CNDO的疗效,并确定了Hasner瓣膜阻塞以外的多种CNDO病因。这些发现强调了神经内镜在CNDO患者手术治疗中的潜在优势。
    In this retrospective study, we compared and analyzed two groups of patients who underwent silicone tube intubation (STI) to treat congenital nasolacrimal duct obstruction (CNDO). We employed dacryoendoscopy to visualize the lacrimal pathways of one group. In total, 85 eyes of 69 patients were included (52 of 41 patients in the non-dacryoendoscopy and 33 eyes of 28 patients in the dacryoendoscopy group). Clinical characteristics, dacryoendoscopic findings, and surgical outcomes were evaluated. The overall STI success rate was 91.8%, and the success rate was significantly higher in the dacryoendoscopy versus non-dacryoendoscopy group (97.0% and 88.5%, respectively). For patients < 36 months of age, the success rate was 100% (23 eyes). All patients with Hasner valve membranous obstructions were younger than 36 months and had structural obstructions of the lacrimal drainage system (LDS) (p = 0.04). However, in patients lacking Hasner valve obstructions, LDS secretory (50.0%) and structural (50%) obstructions occurred at similar rates, which did not vary by age. Dacryoendoscopy-assisted STI enhanced the therapeutic efficacy of CNDO and identified diverse CNDO etiologies beyond Hasner valve obstructions. These findings emphasize the potential advantages of dacryoendoscopy in surgical treatment for CNDO patients.
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  • 文章类型: Journal Article
    我们旨在评估在局部麻醉下通过泪镜检查进行基于办公室的探查治疗先天性鼻泪管阻塞(CNLDO)的安全性和有效性。这项单机构研究回顾性地回顾了64名连续儿童的72只眼睛的数据(38名男孩,43只眼睛;26个女孩,29只眼睛),年龄在6至17岁之间(平均年龄:10.0±2.7)个月,怀疑有CNLDO,从2016年7月到2022年2月。这些患者在局部麻醉下接受了神经内镜检查。CNLDO的临床诊断是基于在生命的前3个月内开始的粘液排出而出现的泪液和粘稠的眼睛。泪液半月板高度增加,荧光素染料消失试验结果。72只眼睛中总共有63只定义为CNLDO,9只眼睛有其他类型的障碍物。典型CNLDO患者的干预成功率为100%(63/63眼),整个研究队列的干预成功率为97.2%(70/72眼)。此外,根据鼻泪管远端的特征,CNLDO分为五种类型。在患有CNLDO的儿科患者中,使用泪镜进行探查是安全的,并且成功率很高。这是第一项评估CNLDO患儿局部麻醉下泪镜探查的安全性和有效性的研究。
    We aimed to evaluate the safety and efficacy of office-based probing with dacryoendoscopy under local anesthesia for congenital nasolacrimal duct obstruction (CNLDO). This single-institution study retrospectively reviewed data on 72 eyes of 64 consecutive children (38 boys, 43 eyes; 26 girls, 29 eyes), aged between 6 and 17 (mean age: 10.0 ± 2.7) months with suspected CNLDO, from July 2016 to February 2022. These patients underwent probing with dacryoendoscopy under local anesthesia. CNLDO was diagnosed clinically based on the presence of epiphora and sticky eyes due to mucous discharge commencing within the first 3 months of life, increased tear meniscus height, and fluorescein dye disappearance test results. A total of 63 of the 72 eyes had narrowly defined CNLDO, and 9 eyes had other types of obstructions. The intervention success rate was 100% (63/63 eyes) for patients with typical CNLDO and 97.2% (70/72 eyes) for the entire study cohort. Moreover, CNLDO was classified into five types based on the features of the distal end of the nasolacrimal duct. Probing with dacryoendoscopy is safe and yields a high success rate in pediatric patients with CNLDO. This is the first study to assess the safety and efficacy of probing with dacryoendoscopy under local anesthesia in pediatric patients with CNLDO.
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  • 文章类型: Case Reports
    肩关节-指甲-泪腺(ADULT)综合征是一种罕见的常染色体显性遗传性疾病,由于TP63基因突变而引起。更常见的是,TP63基因的突变导致外胚层发育不良和/或口面部裂。成人综合征是一种外胚层相关的组织发育不良。这个病例报告描述了一个慢性流泪的病人,先天性闭锁,和泪管阻塞,是成人综合征的主要临床表现。该患者还表现出一些不同于成人综合征的临床表现,即,轻度的眼睑融合和第五指的异常发育(僵硬的第五指,弯曲的长度缩短)。该患者的基因突变也与文献中通常报道的位点不同。在这个病人身上,c.518G>T导致p.G173V(登录号:NM_003722;外显子4)。我们成功地进行了泪囊鼻腔吻合术和人工泪道植入术。如上所示,我们详细讨论了该疾病的临床特征和遗传学。在分享这个案例时,我们旨在有助于目前对ADULT综合征的基因和临床表现的了解,并协助临床医师临床诊断TP63突变相关疾病.
    Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare autosomal dominant inherited disease caused due to mutations in the TP63 gene. More commonly, mutations in the TP63 gene result in ectodermal dysplasia and/or orofacial cleft. ADULT syndrome is a type of ectoderm-related tissue dysplasia. This case report describes a patient with chronic tearing, congenital atresia, and obstruction of the lacrimal ducts, which are the main clinical manifestations of ADULT syndrome. This patient also presented with some clinical manifestations that were different from those of ADULT syndrome, namely, mild eyelid fusion and abnormal development of the fifth finger (a stiff fifth finger with camptodactyly that was shortened in length). The gene mutation in this patient was also at a site different from those usually reported in the literature. In this patient, c.518G > T resulted in p. G173V (accession number: NM_003722; exon4). We performed successful dacryocystorhinostomy and artificial lacrimal duct implantation. As shown above, we discussed the clinical characteristics and genetics of the disease in detail. In sharing this case, we aim to contribute to the current understanding of the genes and clinical manifestations of ADULT syndrome and to assist clinicians in the clinical diagnosis of TP63 mutation-related diseases.
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  • 文章类型: Journal Article
    简介先天性鼻泪管阻塞(CNLDO)会导致眼睛过度撕裂或粘液排出。全球20%的一岁儿童有CNLDO。有许多信息来源提供给父母。这项研究评估了与CNLDO相关的YouTube视频的质量和准确性。方法对YouTube搜索引擎中键入“先天性鼻泪管阻塞”后出现的前100个视频进行评估。还使用DISCERN对这些视频进行了分析和评分,美国医学会杂志(JAMA),和全球质量评分(GQS)系统。结果40个视频符合纳入标准。平均DISCERN评分为47.3±9.15,JAMA为1.72±0.87,GQS为3.1±0.81。非医师组上传的视频的持续时间明显更长(p=0.04)。此外,医师组上传的视频的JAMA评分显著高于其他组(p=0.03).理论视频比手术视频长(p=0.02)。DISCERN,JAMA,在理论视频组中,GQS评分在统计学上较高(分别为p=0.002,p=0.04和p=0.03).结论根据我们的研究,有关先天性鼻泪管阻塞的YouTube视频质量一般.可以通过制作具有有关疾病和理论信息的更详细信息的视频来改善此信息源,以及让卫生专业人员查看已上传的内容。
    Introduction Congenital nasolacrimal duct obstruction (CNLDO) causes excessive eye tearing or mucoid discharge. Twenty percent of one-year-olds globally have CNLDO. There are many sources that offer information to parents. This study evaluates the quality and accuracy of CNLDO-related YouTube videos. Methods The first 100 videos that appeared after typing \"congenital nasolacrimal duct obstruction\" in the YouTube search engine were evaluated. These videos were also analyzed and scored using the DISCERN, Journal of the American Medical Association (JAMA), and Global Quality Scoring (GQS) systems. Results Forty videos met the inclusion criteria. The mean DISCERN score was 47.3 ± 9.15, JAMA was 1.72 ± 0.87, and GQS was 3.1 ± 0.81. The duration of the videos uploaded by the non-physician group was significantly longer (p = 0.04). In addition, the JAMA score of the videos uploaded by the physician group was significantly higher than that of the other group (p = 0.03). Theoretical videos were longer than surgical videos (p = 0.02). DISCERN, JAMA, and GQS scores were statistically higher in the theoretical video group (p = 0.002, p = 0.04, and p = 0.03, respectively). Conclusion According to our research, the quality of YouTube videos about congenital nasolacrimal duct obstruction is average. This information source can be improved by making videos with more detailed information about the disease and theoretical information, as well as by having health professionals look over the content that has been uploaded.
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