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Fractionated CO2 Laser in Combination with Topical Tacrolimus for Chronic Alopecia Areata: A Case Series Study. 分次二氧化碳激光联合外用他克莫司治疗慢性脱发:病例系列研究。
IF 3.2 3区 生物学 Q1 BIOLOGY Pub Date : 2024-09-07 DOI: 10.3390/life14091128
Giulio Rizzetto, Edoardo De Simoni, Helena Gioacchini, Elisa Molinelli, Annamaria Offidani, Oriana Simonetti

Alopecia areata (AA) is a non-scarring autoimmune disease requiring long-term treatments. Topical, intralesional or systemic corticosteroids are the first option. However, considering the risk of skin atrophy and the possible lack of clinical response, new treatment options are urgently needed. A fractional carbon dioxide laser (FCL) has been proven to be effective alone or in combination with other drugs. However, no study has ever evaluated the association between FCL and topical tacrolimus. We report three cases of AA resistant to corticosteroids for at least 12 months, treated with topical tacrolimus 0.1% ointment and FCL on some patches. After 16 weeks from the beginning of treatment, all patients showed improvement in clinical and trichoscopic parameters in the areas treated in combination. FCL and tacrolimus may represent a new therapeutic option, but further studies are needed for confirmation.

斑秃(AA)是一种非瘢痕性自身免疫性疾病,需要长期治疗。局部、鞘内或全身使用皮质类固醇激素是首选疗法。然而,考虑到皮肤萎缩的风险和可能缺乏临床反应,迫切需要新的治疗方案。点阵二氧化碳激光(FCL)已被证明单独使用或与其他药物联合使用有效。然而,还没有研究评估过 FCL 与外用他克莫司之间的关联。我们报告了三例对皮质类固醇激素耐药至少 12 个月的 AA 病例,他们接受了外用他克莫司 0.1% 软膏和 FCL 对部分斑块的治疗。治疗开始 16 周后,所有患者联合治疗部位的临床和三镜检查指标均有所改善。FCL 和他克莫司可能是一种新的治疗选择,但还需要进一步的研究来证实。
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引用次数: 0
Baseline Characteristics Associated with Hypoglossal Nerve Stimulation Treatment Outcomes in Patients with Obstructive Sleep Apnea: A Systematic Review. 与阻塞性睡眠呼吸暂停患者舌下神经刺激治疗效果相关的基线特征:系统回顾。
IF 3.2 3区 生物学 Q1 BIOLOGY Pub Date : 2024-09-07 DOI: 10.3390/life14091129
Eldar Tukanov, Dorine Van Loo, Marijke Dieltjens, Johan Verbraecken, Olivier M Vanderveken, Sara Op de Beeck

Hypoglossal nerve stimulation (HGNS) has emerged as an effective treatment for obstructive sleep apnea (OSA). Identifying baseline characteristics that prospectively could predict treatment outcomes even better is crucial for optimizing patient selection and improving therapeutic success in the future. A systematic review was conducted following PRISMA guidelines. Literature searches in Medline, Web of Science, and Cochrane databases identified studies assessing baseline characteristics associated with HGNS treatment outcomes. Inclusion criteria focused on studies with adult patients diagnosed with OSA, treated with HGNS, and assessed using full-night efficacy sleep studies. Risk of bias was evaluated using the NICE tool. Twenty-six studies met the inclusion criteria. Commonly reported baseline characteristics with predictive potential included BMI, site of collapse, and various pathophysiological endotypes. Most studies used the original Sher criteria to define treatment response, though variations were noted. Results suggested that lower BMI, absence of complete concentric collapse at the palatal level, and specific pathophysiological traits were associated with better HGNS outcomes. This review identified several baseline characteristics associated with HGNS outcomes, which may guide future patient selection. Importantly, patients were already preselected for HGNS. Standardizing response criteria is recommended to enhance the evaluation and effectiveness of HGNS therapy in OSA patients.

舌下神经刺激(HGNS)已成为治疗阻塞性睡眠呼吸暂停(OSA)的有效方法。确定能更好地预测治疗效果的基线特征,对于优化患者选择和提高未来治疗成功率至关重要。我们按照 PRISMA 指南进行了系统性综述。在 Medline、Web of Science 和 Cochrane 数据库中进行文献检索,确定了评估与 HGNS 治疗效果相关的基线特征的研究。纳入标准主要针对被诊断为 OSA、接受过 HGNS 治疗并使用整夜睡眠研究对疗效进行评估的成年患者。使用 NICE 工具对偏倚风险进行了评估。共有 26 项研究符合纳入标准。常见的具有预测潜力的基线特征包括体重指数、塌陷部位和各种病理生理内型。大多数研究使用最初的 Sher 标准来定义治疗反应,但也存在差异。结果表明,较低的体重指数、腭部没有完全同心塌陷以及特定的病理生理特征与较好的 HGNS 治疗效果相关。本综述确定了与 HGNS 治疗效果相关的几个基线特征,这些特征可为未来患者的选择提供指导。重要的是,患者已被预选为 HGNS 患者。建议统一反应标准,以加强对 OSA 患者 HGNS 治疗的评估和有效性。
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引用次数: 0
An Artificial Neural Network Prediction Model of Depressive Symptoms among Women with Abnormal Papanicolaou Smear Results before and after Diagnostic Procedures. 宫颈涂片结果异常妇女在诊断程序前后抑郁症状的人工神经网络预测模型。
IF 3.2 3区 生物学 Q1 BIOLOGY Pub Date : 2024-09-07 DOI: 10.3390/life14091130
Irena Ilic, Goran Babic, Aleksandra Dimitrijevic, Sandra Sipetic Grujicic, Milena Ilic

(1) Background: Cervical screening and additional diagnostic procedures often lead to depression. This research aimed to develop a prediction model for depression in women who received an abnormal Papanicolaou screening test, prior to and following the diagnostic procedures. (2) Methods: The study included women who had a positive Papanicolaou screening test (N = 172) and attended the Clinical Center of Kragujevac in Serbia for additional diagnostic procedures (colposcopy/biopsy/endocervical curettage). Women filled out a sociodemographic survey and the Center for Epidemiologic Studies Depression questionnaire (CES-D scale) before and after diagnostic procedures. A prediction model was built with multilayer perceptron neural networks. (3) Results: A correlation-based filter method of feature selection indicated four variables that correlated with depression both prior to and following the diagnostic procedures-anxiety, depression, worry, and concern about health consequences. In addition, the use of sedatives and a history of both induced and spontaneous abortion correlated with pre-diagnostic depression. Important attributes for predicting post-diagnostic depression were scores for the domains 'Tension/discomfort' and 'Embarrassment' and depression in personal medical history. The accuracy of the pre-diagnostic procedures model was 70.6%, and the area under the receiver operating characteristic curve (AUROC) was 0.668. The model for post-diagnostic depression prediction showed an accuracy of 70.6%, and an AUROC = 0.836. (4) Conclusions: This study helps provide means to predict the occurrence of depression in women with an abnormal Papanicolaou screening result prior to and following diagnostic procedures, which can aid healthcare professionals in successfully providing timely psychological support to those women who are referred to further diagnostics.

(1) 背景:宫颈筛查和其他诊断程序往往会导致抑郁症。本研究旨在开发一个预测模型,用于预测接受过异常巴氏筛查的妇女在诊断程序之前和之后的抑郁情况。(2)方法:研究对象包括巴氏筛查呈阳性的妇女(N = 172),她们在塞尔维亚克拉古耶瓦茨临床中心接受了额外的诊断程序(阴道镜检查/活组织检查/宫颈内膜刮宫术)。妇女在诊断程序前后填写了社会人口调查表和流行病学研究中心抑郁问卷(CES-D量表)。利用多层感知器神经网络建立了一个预测模型。(3) 结果:基于相关性过滤的特征选择方法显示,在诊断程序之前和之后,有四个变量与抑郁相关--焦虑、抑郁、担忧和对健康后果的担忧。此外,使用镇静剂以及人工流产和自然流产史也与诊断前抑郁相关。预测诊断后抑郁的重要属性是 "紧张/不适 "和 "尴尬 "领域的得分以及个人病史中的抑郁。诊断前程序模型的准确率为 70.6%,接收者操作特征曲线下面积(AUROC)为 0.668。诊断后抑郁预测模型的准确率为 70.6%,接受者操作特征曲线下面积为 0.836。(4) 结论:这项研究有助于为巴氏筛查结果异常的妇女在诊断前和诊断后的抑郁发生率提供预测方法,从而帮助医护人员成功地为那些被转诊接受进一步诊断的妇女提供及时的心理支持。
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引用次数: 0
Clinical Outcomes and Safety Assessment of Flexible Ureteroscopy as an Outpatient Procedure: A Retrospective Single-Center Study. 作为门诊手术的柔性输尿管镜检查的临床结果和安全性评估:单中心回顾性研究
IF 3.2 3区 生物学 Q1 BIOLOGY Pub Date : 2024-09-07 DOI: 10.3390/life14091131
George F Mitroi, Petru Octavian Drăgoescu, Mihaela Roxana Mitroi, George G Mitroi, Iulia Bianca Dudan, Tudor Cristian Timotei Popescu, Cristian Mihai Nedelcuță, Andrei Ioan Drocaș

Nephrolithiasis, or kidney stone disease, is a significant global health issue in urology, requiring effective management strategies. The management of nephrolithiasis through flexible ureteroscopy (fURS) is increasingly gaining acceptance; however, it is associated with significant costs related to consumables, pharmacotherapy, specialized equipment, and general anesthesia (GA). Limited resources and the need to optimize the cost effectiveness ratio have driven the shift to day-case procedures, offering financial and operational benefits and improving patient satisfaction. This outpatient care approach addresses clinical and economic challenges. For same-day discharge, spinal anesthesia (SA) is essential for fURS, as GA does not permit safe immediate discharge. This retrospective study investigates the feasibility of same-day discharge following fURS procedures performed under SA. Analyzing data from 401 patients who underwent 414 fURS procedures between January 2020 and December 2023, this study aims to evaluate whether same-day discharge is a viable option compared to conventional fURS under GA. The primary objectives are to assess the outcomes, including efficacy, stone-free rate (SFR), pain management, and complication rates, in the context of same-day discharge. Additionally, this study seeks to identify patient and kidney stone characteristics that may influence the suitability of one-day fURS under SA. Outcomes will be measured using the Dindo-Clavien (D-C) classification and Visual Analog Scale (VAS) scores post-procedure.

肾结石或肾石症是泌尿外科领域一个重要的全球性健康问题,需要有效的管理策略。通过柔性输尿管镜(fURS)治疗肾结石的方法正逐渐被接受;然而,这种方法与耗材、药物治疗、专业设备和全身麻醉(GA)相关的成本也很高。有限的资源和优化成本效益比的需求推动了向日间手术的转变,从而带来了经济和运营上的好处,并提高了患者的满意度。这种门诊护理方法可应对临床和经济方面的挑战。要想当天出院,脊髓麻醉(SA)对急诊手术至关重要,因为GA不允许立即安全出院。这项回顾性研究探讨了在 SA 下进行 fURS 手术后当天出院的可行性。本研究分析了在 2020 年 1 月至 2023 年 12 月期间接受 414 次 fURS 手术的 401 名患者的数据,旨在评估与在 GA 下进行的传统 fURS 相比,当天出院是否是一种可行的选择。主要目的是评估当天出院的疗效、无结石率(SFR)、疼痛控制和并发症发生率等结果。此外,本研究还试图找出可能影响在 SA 下进行一日 fURS 的适宜性的患者和肾结石特征。研究结果将使用 Dindo-Clavien (D-C) 分类和术后视觉模拟量表 (VAS) 评分来衡量。
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引用次数: 0
Off-Label Uses of Abrocitinib: Review of Emerging Therapeutic Applications beyond Atopic Dermatitis. 阿罗昔替尼的标示外使用:特应性皮炎以外的新兴治疗应用回顾。
IF 3.2 3区 生物学 Q1 BIOLOGY Pub Date : 2024-09-06 DOI: 10.3390/life14091127
George G Mitroi, George F Mitroi, Oana Maria Ică, Florin Anghelina, Mircea Sorin Ciolofan, Mihaela Roxana Mitroi

Abrocitinib, an oral small-molecule Janus Kinase 1 (JAK1) inhibitor, is primarily approved for treating moderate-to-severe atopic dermatitis (AD) in adults and adolescents aged 12 and older. This review examines the emerging off-label uses of Abrocitinib. We identified 37 papers reporting on the use of Abrocitinib in various conditions other than AD. The most commonly reported uses were for vitiligo, prurigo nodularis, and hand eczema, with 12 cases each. There were also 10 cases of lichen sclerosus and chronic pruritus of unknown origin and 5 cases each of pityriasis rubra pilaris alopecia areata. Additionally, erythematotelangiectatic rosacea and steroid-induced rosacea were reported in four cases each. Other conditions treated with Abrocitinib were noted, but these mostly had only one or two reported cases. Interestingly, out of the 103 patients reviewed, all studies reported favorable clinical outcomes and satisfactory results, with the exception of one isolated case where Abrocitinib was used to treat erythematotelangiectatic rosacea.

阿罗西替尼是一种口服小分子 Janus 激酶 1 (JAK1) 抑制剂,主要用于治疗成人和 12 岁及以上青少年的中重度特应性皮炎 (AD)。本综述探讨了阿罗西替尼新出现的标签外用途。我们发现有 37 篇论文报道了阿罗西替尼在除过敏性皮炎以外的各种疾病中的应用。最常报道的用途是白癜风、结节性瘙痒症和手部湿疹,各12例。此外,还有 10 例硬皮病和原因不明的慢性瘙痒症,以及各 5 例红斑狼疮脱发症。此外,红斑性红斑痤疮和类固醇引起的红斑痤疮各报告了 4 例。此外,还发现了用阿博西替尼治疗的其他病症,但这些病症大多只有一到两例报道。有趣的是,在所审查的103例患者中,所有研究都报告了良好的临床结果和令人满意的疗效,只有一例用阿昔替尼治疗红斑扩张性酒渣鼻的病例除外。
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引用次数: 0
COVID-19 Prevention and Treatment-2nd Edition. COVID-19 预防与治疗--第 2 版。
IF 3.2 3区 生物学 Q1 BIOLOGY Pub Date : 2024-09-06 DOI: 10.3390/life14091126
Silvia De Francia, Daniela Di Grazia, Maura Caudana, Sarah Allegra

We have learned that the story of COVID-19 is not so simple [...].

我们了解到,COVID-19 的故事并非如此简单[......]。
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引用次数: 0
Postoperative Thrombocytopenia after Revision Arthroplasty: Features, Diagnostic and Therapeutic Considerations. 翻修关节置换术后血小板减少症:特点、诊断和治疗注意事项。
IF 3.2 3区 生物学 Q1 BIOLOGY Pub Date : 2024-09-06 DOI: 10.3390/life14091124
Carmen Saguna, Nicoleta Mariana Berbec, Marian Platon, Alexandra Marcoci, Andreea Jercan, Andrei Colita, Mihai Emanuel Gherghe, Dana-Georgiana Nedelea, Romica Cergan, Cristian Scheau, Serban Dragosloveanu

We present the case of a 66 year-old male patient who developed severe postoperative thrombocytopenia after revision total hip arthroplasty. The patient underwent surgery in a dedicated orthopedics hospital and was initially managed in the intensive care unit. Upon the development of thrombocytopenia, he was referred to a dedicated hematology clinic for investigation and advanced management. A thorough diagnostic algorithm was employed in order to rule out the main causes of thrombocytopenia. By exclusion, we diagnosed the patient as suffering from a rare and severe form of postoperative thrombocytopenia through an immune mechanism. Although postoperative thrombocytopenia is relatively frequent but transitory and no treatment is required, this condition was refractory to corticosteroids and substitution therapy; however, it quickly responded to treatment with thrombopoietin receptor agonists. The patient recovered and was successfully discharged with normal platelet values. While rare occurrences, alternative causes of thrombocytopenia such as infection, drug-induced, or immune should be considered in patients developing postoperative thrombocytopenia.

我们介绍了一例 66 岁男性患者的病例,他在翻修全髋关节置换术后出现了严重的术后血小板减少症。患者在一家专门的骨科医院接受了手术,最初在重症监护室接受治疗。出现血小板减少症状后,他被转到专门的血液科诊所接受检查和高级治疗。为了排除导致血小板减少的主要原因,我们采用了一套全面的诊断算法。通过排除法,我们诊断患者患有罕见的、严重的、通过免疫机制引起的术后血小板减少症。虽然术后血小板减少症比较常见,但只是暂时性的,无需治疗,但这种情况对皮质类固醇和替代疗法难治;不过,使用促血小板生成素受体激动剂治疗后很快就有了反应。患者康复后顺利出院,血小板值正常。对于术后血小板减少的患者,虽然很少发生,但也应考虑血小板减少的其他原因,如感染、药物诱导或免疫。
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引用次数: 0
Expression Changes of miRNAs in Humans and Animal Models of Amyotrophic Lateral Sclerosis and Their Potential Application for Clinical Diagnosis. 肌萎缩侧索硬化症人类和动物模型中 miRNA 的表达变化及其在临床诊断中的潜在应用。
IF 3.2 3区 生物学 Q1 BIOLOGY Pub Date : 2024-09-06 DOI: 10.3390/life14091125
Ruili Wang, Liang Chen, Yuning Zhang, Bo Sun, Mengyao Liang

Amyotrophic lateral sclerosis (ALS) is a severe motor neuron disease. Current detection methods can only confirm the diagnosis at the onset of the disease, missing the critical window for early treatment. Recent studies using animal models have found that detecting changes in miRNA sites can predict the onset and severity of the disease in its early stages, facilitating early diagnosis and treatment. miRNAs show expression changes in motor neurons that connect the brain, spinal cord, and brain stem, as well as in the skeletal muscle in mouse models of ALS. Clinically, expression changes in some miRNAs in patients align with those in mouse models, such as the upregulation of miR-29b in the brain and the upregulation of miR-206 in the skeletal muscle. This study provides an overview of some miRNA study findings in humans as well as in animal models, including SOD1, FUS, TDP-43, and C9orf72 transgenic mice and wobbler mice, highlighting the potential of miRNAs as diagnostic markers for ALS. miR-21 and miR-206 are aberrantly expressed in both mouse model and patient samples, positioning them as key potential diagnostic markers in ALS. Additionally, miR-29a, miR-29b, miR-181a, and miR-142-3p have shown aberrant expression in both types of samples and show promise as clinical targets for ALS. Finally, miR-1197 and miR-486b-5p have been recently identified as aberrantly expressed miRNAs in mouse models for ALS, although further studies are needed to determine their viability as diagnostic targets.

肌萎缩侧索硬化症(ALS)是一种严重的运动神经元疾病。目前的检测方法只能在发病初期确诊,错过了早期治疗的关键窗口期。最近利用动物模型进行的研究发现,检测 miRNA 位点的变化可以预测疾病早期的发病情况和严重程度,从而有助于早期诊断和治疗。在 ALS 小鼠模型中,连接大脑、脊髓和脑干的运动神经元以及骨骼肌中的 miRNA 都出现了表达变化。在临床上,患者体内某些 miRNA 的表达变化与小鼠模型中的表达变化一致,如大脑中 miR-29b 的上调和骨骼肌中 miR-206 的上调。本研究概述了在人类和动物模型(包括 SOD1、FUS、TDP-43 和 C9orf72 转基因小鼠和摇摆小鼠)中的一些 miRNA 研究结果,强调了 miRNA 作为 ALS 诊断标志物的潜力。miR-21 和 miR-206 在小鼠模型和患者样本中都有异常表达,这使它们成为 ALS 的关键潜在诊断标志物。此外,miR-29a、miR-29b、miR-181a 和 miR-142-3p 在两种样本中都出现了异常表达,有望成为 ALS 的临床靶标。最后,miR-1197 和 miR-486b-5p 最近被确定为在 ALS 小鼠模型中异常表达的 miRNA,但要确定它们作为诊断靶点的可行性还需要进一步的研究。
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引用次数: 0
Diaphragm Muscle Atrophy Contributes to Low Physical Capacity in COVID-19 Survivors. 横膈膜肌肉萎缩导致 COVID-19 存活者体能低下。
IF 3.2 3区 生物学 Q1 BIOLOGY Pub Date : 2024-09-05 DOI: 10.3390/life14091117
Janusz Kocjan, Mateusz Rydel, Jan Szczegielniak, Katarzyna Bogacz, Mariusz Adamek

Fatigue and dyspnea are the most commonly reported long-term complaints in individuals previously infected with SARS-CoV-2. This study aimed to comprehensively evaluate diaphragm muscle function in post-COVID-19 patients and investigate whether potential diaphragm dysfunction contributes to physical functioning impairment. A total of 46 patients who qualified for pulmonary rehabilitation were examined. Diaphragm muscle function parameters were evaluated using ultrasonography, while the severity of dyspnea, aerobic capacity, and the amount of energy used by the body during physical activity were assessed using the six-minute walk test, mMRC scale, and Metabolic Equivalent Task (MET), respectively. We identified that 69.5% of patients had diaphragm atrophy and 6.5% had diaphragm paralysis. The percentage of atrophy was not related to age, gender, BMI, oxygen therapy usage during the COVID-19 infection course, and disease severity. Patients who experienced cough, fever, and no loss of smell during the COVID-19 course had significantly greater diaphragm inspiratory thickness values, while patients with cough and no smell disorders had a significantly lower percentage of diaphragm atrophy. Diaphragm functional parameters were strongly associated with selected variables of exercise tolerance, such as distance in the six-minute walk test, oxygen saturation levels, fatigue, and exertion on the Borg scale. In conclusion, diaphragm muscle dysfunction is a serious long-term post-COVID-19 consequence and can be viewed as a major contributing factor to prolonged functional impairments.

疲劳和呼吸困难是既往感染过 SARS-CoV-2 的患者最常报告的长期主诉。本研究旨在全面评估 COVID-19 后患者的膈肌功能,并探讨潜在的膈肌功能障碍是否会导致身体功能障碍。共对 46 名符合肺康复条件的患者进行了检查。我们使用超声波检查评估了膈肌功能参数,并使用六分钟步行测试、mMRC 量表和代谢当量任务(MET)分别评估了呼吸困难的严重程度、有氧能力和身体活动时消耗的能量。我们发现,69.5% 的患者膈肌萎缩,6.5% 的患者膈肌麻痹。膈肌萎缩的比例与年龄、性别、体重指数、COVID-19 感染过程中氧疗的使用情况以及疾病的严重程度无关。在 COVID-19 感染过程中出现咳嗽、发烧和无嗅觉丧失的患者膈肌吸气厚度值明显增大,而出现咳嗽和无嗅觉障碍的患者膈肌萎缩比例明显降低。膈肌功能参数与运动耐受性的某些变量密切相关,如六分钟步行测试的距离、血氧饱和度水平、疲劳度和博格量表的用力程度。总之,横膈膜肌肉功能障碍是 COVID-19 后长期存在的一个严重后果,可被视为导致长期功能障碍的一个主要因素。
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引用次数: 0
The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients-The Experience of University Medical Centre, Ljubljana. 新生儿重症监护室患者先天性心脏病的遗传结构--卢布尔雅那大学医疗中心的经验。
IF 3.2 3区 生物学 Q1 BIOLOGY Pub Date : 2024-09-05 DOI: 10.3390/life14091118
Ana Peterlin, Sara Bertok, Karin Writzl, Luca Lovrečić, Aleš Maver, Borut Peterlin, Maruša Debeljak, Gregor Nosan

Congenital heart disease (CHD) is the most commonly detected congenital anomaly and affects up to 1% of all live-born neonates. Current guidelines support the use of chromosomal microarray analysis (CMA) and next-generation sequencing (NGS) as diagnostic approaches to identify genetic causes. The aim of our study was to evaluate the diagnostic yield of CMA and NGS in a cohort of neonates with both isolated and syndromic CHD. The present study included 188 infants under 28 days of age with abnormal echocardiography findings hospitalized at the Department of Neonatology, UMC Ljubljana, between January 2014 and December 2023. Phenotypic data were obtained for each infant via retrospective medical chart review. We established the genetic diagnosis of 22 distinct syndromes in 17% (32/188) of neonates. The most frequent genetic diagnoses in diagnosed cases were 22q11.2 microdeletion and CHARGE syndromes, followed by Noonan syndrome and Williams syndrome. In addition, we detected variants of uncertain significance in 4.8% (9/188) of neonates. Timely genetic diagnosis is important for the detection of syndrome-related comorbidities, prognosis, reproductive genetic risks and, when appropriate, genetic testing of other family members.

先天性心脏病(CHD)是最常被发现的先天性畸形,在所有活产新生儿中患病率高达 1%。目前的指南支持使用染色体微阵列分析(CMA)和下一代测序(NGS)作为诊断方法来确定遗传原因。我们的研究旨在评估 CMA 和 NGS 在一组患有孤立性和综合征性先天性心脏病的新生儿中的诊断率。本研究纳入了 2014 年 1 月至 2023 年 12 月期间在卢布尔雅那大学新生儿科住院、超声心动图检查结果异常、年龄不足 28 天的 188 名婴儿。我们通过回顾性病历审查获得了每个婴儿的表型数据。我们对 17% 的新生儿(32/188)进行了 22 种不同综合征的基因诊断。在确诊病例中,最常见的基因诊断是 22q11.2 微缺失和 CHARGE 综合征,其次是努南综合征和威廉姆斯综合征。此外,我们还在 4.8%(9/188)的新生儿中检测到了意义不确定的变异。及时的基因诊断对于发现与综合征相关的并发症、预后、生殖遗传风险以及在适当的时候对其他家庭成员进行基因检测非常重要。
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引用次数: 0
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