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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
Life-Basel Pub Date : 2024-09-07 DOI: 10.3390/life14091128
Giulio Rizzetto, Edoardo De Simoni, Helena Gioacchini, Elisa Molinelli, Annamaria Offidani, Oriana Simonetti
{"title":"Fractionated CO<sub>2</sub> Laser in Combination with Topical Tacrolimus for Chronic Alopecia Areata: A Case Series Study.","authors":"Giulio Rizzetto, Edoardo De Simoni, Helena Gioacchini, Elisa Molinelli, Annamaria Offidani, Oriana Simonetti","doi":"10.3390/life14091128","DOIUrl":"https://doi.org/10.3390/life14091128","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":56144,"journal":{"name":"Life-Basel","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11433324/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Life-Basel 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
{"title":"Baseline Characteristics Associated with Hypoglossal Nerve Stimulation Treatment Outcomes in Patients with Obstructive Sleep Apnea: A Systematic Review.","authors":"Eldar Tukanov, Dorine Van Loo, Marijke Dieltjens, Johan Verbraecken, Olivier M Vanderveken, Sara Op de Beeck","doi":"10.3390/life14091129","DOIUrl":"https://doi.org/10.3390/life14091129","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":56144,"journal":{"name":"Life-Basel","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11433192/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333204","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Life-Basel Pub Date : 2024-09-07 DOI: 10.3390/life14091130
Irena Ilic, Goran Babic, Aleksandra Dimitrijevic, Sandra Sipetic Grujicic, Milena Ilic
{"title":"An Artificial Neural Network Prediction Model of Depressive Symptoms among Women with Abnormal Papanicolaou Smear Results before and after Diagnostic Procedures.","authors":"Irena Ilic, Goran Babic, Aleksandra Dimitrijevic, Sandra Sipetic Grujicic, Milena Ilic","doi":"10.3390/life14091130","DOIUrl":"https://doi.org/10.3390/life14091130","url":null,"abstract":"<p><p>(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.</p>","PeriodicalId":56144,"journal":{"name":"Life-Basel","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11432808/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333197","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Life-Basel 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
{"title":"Clinical Outcomes and Safety Assessment of Flexible Ureteroscopy as an Outpatient Procedure: A Retrospective Single-Center Study.","authors":"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","doi":"10.3390/life14091131","DOIUrl":"https://doi.org/10.3390/life14091131","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":56144,"journal":{"name":"Life-Basel","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11433351/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333208","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Life-Basel 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
{"title":"Off-Label Uses of Abrocitinib: Review of Emerging Therapeutic Applications beyond Atopic Dermatitis.","authors":"George G Mitroi, George F Mitroi, Oana Maria Ică, Florin Anghelina, Mircea Sorin Ciolofan, Mihaela Roxana Mitroi","doi":"10.3390/life14091127","DOIUrl":"https://doi.org/10.3390/life14091127","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":56144,"journal":{"name":"Life-Basel","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11432974/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Life-Basel Pub Date : 2024-09-06 DOI: 10.3390/life14091126
Silvia De Francia, Daniela Di Grazia, Maura Caudana, Sarah Allegra
{"title":"COVID-19 Prevention and Treatment-2nd Edition.","authors":"Silvia De Francia, Daniela Di Grazia, Maura Caudana, Sarah Allegra","doi":"10.3390/life14091126","DOIUrl":"https://doi.org/10.3390/life14091126","url":null,"abstract":"<p><p>We have learned that the story of COVID-19 is not so simple [...].</p>","PeriodicalId":56144,"journal":{"name":"Life-Basel","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11433394/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Life-Basel 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
{"title":"Postoperative Thrombocytopenia after Revision Arthroplasty: Features, Diagnostic and Therapeutic Considerations.","authors":"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","doi":"10.3390/life14091124","DOIUrl":"https://doi.org/10.3390/life14091124","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":56144,"journal":{"name":"Life-Basel","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11432911/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333307","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Life-Basel Pub Date : 2024-09-06 DOI: 10.3390/life14091125
Ruili Wang, Liang Chen, Yuning Zhang, Bo Sun, Mengyao Liang
{"title":"Expression Changes of miRNAs in Humans and Animal Models of Amyotrophic Lateral Sclerosis and Their Potential Application for Clinical Diagnosis.","authors":"Ruili Wang, Liang Chen, Yuning Zhang, Bo Sun, Mengyao Liang","doi":"10.3390/life14091125","DOIUrl":"https://doi.org/10.3390/life14091125","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":56144,"journal":{"name":"Life-Basel","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11433357/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142336699","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Life-Basel Pub Date : 2024-09-05 DOI: 10.3390/life14091117
Janusz Kocjan, Mateusz Rydel, Jan Szczegielniak, Katarzyna Bogacz, Mariusz Adamek
{"title":"Diaphragm Muscle Atrophy Contributes to Low Physical Capacity in COVID-19 Survivors.","authors":"Janusz Kocjan, Mateusz Rydel, Jan Szczegielniak, Katarzyna Bogacz, Mariusz Adamek","doi":"10.3390/life14091117","DOIUrl":"https://doi.org/10.3390/life14091117","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":56144,"journal":{"name":"Life-Basel","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11432790/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333239","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Life-Basel 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
{"title":"The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients-The Experience of University Medical Centre, Ljubljana.","authors":"Ana Peterlin, Sara Bertok, Karin Writzl, Luca Lovrečić, Aleš Maver, Borut Peterlin, Maruša Debeljak, Gregor Nosan","doi":"10.3390/life14091118","DOIUrl":"https://doi.org/10.3390/life14091118","url":null,"abstract":"<p><p>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 <i>22q11.2</i> 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.</p>","PeriodicalId":56144,"journal":{"name":"Life-Basel","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11433392/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333339","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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