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Serum hypoxia-inducible factor 1 alpha levels in stroke 脑卒中患者血清缺氧诱导因子1 α水平
Pub Date : 2023-01-01 DOI: 10.5455/annalsmedres.2023.08.186
Esen ekli, Asl du, Dilcan Kotan, Asuman zkan
Aim: In order to survive, human cells must adapt to changes in the oxygen level of their environment. Many endogenous mechanisms operate in hypoxia. Hypoxia-inducible factor 1 (HIF-1) is a transcriptional protein involved in the head of the cascade that regulates the response of brain and other tissues to hypoxia. HIF-1 alpha (HIF-1α) is the main molecule that responds to hypoxia and is an important marker of cerebral hypoperfusion. Materials and Methods: 39 acute stroke patients aged between 18-80 years and 38 control patients included in our study. We aimed to examine the serum HIF-1α levels in early period of acute ischemic stroke. We also aimed to evaluate its usefulness in determining tissue damage due to hypoxia and the prognosis of the disease. Results: Serum HIF-1α levels were higher in acute ischemic stroke patients compared to the control group (p= 0.000). There was no significant correlation between infarct volumes, NHISS scores, blood pressure and HIF-1α values of the stroke patients. Conclusion: HIF-1α could be an important biomarker in detecting cerebral hypoxia. It is possible to study this in human peripheral blood. Its usability in stroke may become widespread with studies on its therapeutic target.
目的:为了生存,人类细胞必须适应环境中氧含量的变化。许多内源性机制在缺氧中起作用。缺氧诱导因子1 (HIF-1)是一种转录蛋白,参与调节大脑和其他组织对缺氧的反应。HIF-1α (HIF-1α)是响应缺氧的主要分子,是脑灌注不足的重要标志。材料与方法:39例18 ~ 80岁的急性脑卒中患者和38例对照患者。目的探讨急性缺血性脑卒中早期血清HIF-1α水平的变化。我们还旨在评估其在确定缺氧引起的组织损伤和疾病预后方面的有用性。结果:急性缺血性脑卒中患者血清HIF-1α水平高于对照组(p= 0.000)。脑卒中患者的梗死面积、niss评分、血压和HIF-1α值之间无显著相关性。结论:HIF-1α可能是检测脑缺氧的重要生物标志物。在人外周血中进行研究是可能的。随着对其治疗靶点的研究,其在中风中的应用可能会越来越广泛。
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引用次数: 0
Artificial Cystitis Model: The Response of Sprague-Dawley Rats’ Bladder To Surfactant Instillation 人工膀胱炎模型:Sprague-Dawley大鼠膀胱对表面活性剂的反应
Pub Date : 2023-01-01 DOI: 10.5455/annalsmedres.2022.08.267
C. Yeşildal, O. Yilmaz, S. Yenigurbuz, A. Sade, Y. Kızılkan, A. Albayrak, M. Ilgi
Abstract Objectives: Chemical cystitis is a disease that causes mortality and morbidity. It’s treatment is really difficult. We aimed to present a low-cost, successful, easy-to-access, and easily applicable treatment option for the treatment of this disease. Materials and Methods: 16 Sprague-Dawley rats were divided into 4 groups. 1 group is a sham group, 2’nd is saline, 3’rd surfactant before chemical cystitis, and 4’th group is surfactant after chemical cystitis. On the 4th day, all groups are sacrificed and their bladders are sent for histochemical examination. The pathological data of the subjects were evaluated according to the levels of hemorrhage, edema, inflammation, and congestion. Data were evaluated by scoring between 0-2. 0 none, 1 Moderate, and 2 highly present. Results: There was no statistically significant difference found between the groups in terms of all parameters (p=0.111). The difference was not found statistically significant in the pairwise comparison of the groups (p>0.05). Conclusion: Surfactant had no preventive or therapeutic effect on the chemical cystitis developed in mice. The simple saline application seems to be more effective.
目的:化学性膀胱炎是一种死亡率高、发病率高的疾病。这种病的治疗非常困难。我们的目标是提供一种低成本、成功、易于获取和易于应用的治疗方案来治疗这种疾病。材料与方法:将16只sd大鼠分为4组。1组为假手术组,2组为生理盐水组,3组为化学性膀胱炎前表面活性剂组,4组为化学性膀胱炎后表面活性剂组。第4天处死各组,取膀胱组织化学检查。根据出血、水肿、炎症和充血的程度评估受试者的病理资料。数据以0-2分进行评价。0无,1中度,2高度存在。结果:两组间各项指标比较,差异均无统计学意义(p=0.111)。两组间两两比较差异无统计学意义(p>0.05)。结论:表面活性剂对小鼠化学性膀胱炎无预防或治疗作用。简单的生理盐水似乎更有效。
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引用次数: 0
Title: The effects of demographic transformation due to refugee migration in Turkey on maternal and neonatal outcomesRunning Title: Syrian pregnancies and their adverse outcomes 标题:土耳其难民移民导致的人口结构转变对孕产妇和新生儿结局的影响
Pub Date : 2023-01-01 DOI: 10.5455/annalsmedres.2022.06.185
Sad krer
Objective: This research analyzes the obstetric and neonatal outcomes of Syrian and Turkish pregnant women. Methods: This retrospective cross-sectional study included 1,823 pregnant Turkish and Syrian women aged 13 to 47 who gave birth at a tertiary care facility in the Mediterranean region of Turkey. Between September 2020 and August 2021, 940 Turkish and 883 Syrian refugees (SYR) pregnant women participated in the study. The groups were compared for demographic data, obstetric outcomes, and neonatal features. Results: The maternal age distribution for SYR includes younger ages (p<0,001). The literacy status among Syrians is lower than that of Turks (p<0,001). Syrian pregnant women have a lower prevalence of cesarean section (CS); they have a greater rate of first spontaneous vaginal delivery (fSVD) and spontaneous vaginal delivery (SVD) than Turkish pregnant women (p<0,001). Amniotic membrane rupture is more prevalent among pregnant Syrian women (p=0,007). APGAR scores differ by nationality (p=0.004). There is a significant difference in maternal hemoglobin median values (g/dL) according to nationality (p<0.001). There is a substantial difference between the birth weights of newborns with low birth weight (LBW) (1500 ≤ - <2500 grams) and those with 2500 grams or more in both groups (p<0.001). Conclusion: There is a strong correlation between education and prenatal care utilization. As women's education levels increase, the rates of prenatal care also increase. Antenatal care is the most valuable and effective method for preventing adverse pregnancy and neonatal outcomes.
目的:本研究分析叙利亚和土耳其孕妇的产科和新生儿结局。方法:这项回顾性横断面研究包括1823名13至47岁的土耳其和叙利亚孕妇,她们在土耳其地中海地区的一家三级保健机构分娩。在2020年9月至2021年8月期间,940名土耳其和883名叙利亚难民(SYR)孕妇参加了这项研究。比较两组的人口统计数据、产科结局和新生儿特征。结果:SYR的产妇年龄分布有年轻化趋势(p< 0.001)。叙利亚人的识字率低于土耳其人(p< 0.001)。叙利亚孕妇剖宫产率较低(CS);他们的首次自然阴道分娩(fSVD)和自然阴道分娩(SVD)率高于土耳其孕妇(p< 0.001)。羊膜破裂在叙利亚孕妇中更为普遍(p=0,007)。APGAR评分因国籍而异(p=0.004)。不同民族产妇血红蛋白中位数(g/dL)差异有统计学意义(p<0.001)。低出生体重(LBW)(1500≤- <2500克)和2500克及以上新生儿的出生体重在两组间存在显著差异(p<0.001)。结论:受教育程度与产前护理利用有较强的相关性。随着妇女受教育程度的提高,产前护理的比率也在增加。产前保健是预防不良妊娠和新生儿结局最有价值和最有效的方法。
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引用次数: 0
Alamandine alleviates methotrexate-induced nephrotoxicity in rats by targeting oxidative stress and inflammation Alamandine通过靶向氧化应激和炎症减轻甲氨蝶呤诱导的大鼠肾毒性
Pub Date : 2023-01-01 DOI: 10.5455/annalsmedres.2023.06.128
A. Yıldız, M. Aras, M. Gunata, M. Durhan, S. Polat, H. Parlakpınar, Y. Cigremis, N. Vardı
Aim: Nephrotoxicity due to the use of methotrexate (Mtx) is one of the most important problems associated with chemotherapy. Oxidative stress and inflammation are the major pathomechanisms of Mtx-induced nephrotoxicity. Alamandine (Ala), a new member of the renin-angiotensin system (RAS), is an important peptide with antioxidant and anti-inflammatory capacities. In this study, it was investigated whether Ala ameliorates Mtx-induced kidney damage by reducing oxidative stress and inflammation. Materials and Methods: Male Wistar albino rats were assigned into three groups: control group, Mtx group, and Mtx+Ala group. At the end of the experiment, kidney tissues were quickly removed. Glutathione (GSH) and malondialdehyde (MDA) levels were measured to determine the oxidative state in kidney tissues. In addition, tissue samples were assessed as histopathological and immunohistochemical for heat shock protein 60 (HSP60), caspase-3, tumor necrosis factor-α (TNF-α), and receptor-interacting protein kinase-3 (RIPK3). Results: Mtx treatment resulted in reduced GSH content, elevated MDA level, increased heat shock protein 60 (HSP60), and caspase-3 expression. These changes in kidney tissues of rats treated with Mtx triggered oxidative stress characterized by apoptosis and kidney damage. Mtx also markedly increased the expression of TNF-α, an inflammation marker, and RIPK3, a marker of necroptosis. However, Ala administration significantly alleviated Mtx-induced kidney damage by reducing apoptosis and necroptosis by suppressing oxidative stress and inflammation. Conclusion: Taken together, our results support that Ala treatment can serve as a new and promising therapeutic strategy against Mtx-induced nephrotoxicity. Keywords: Alamandine; methotrexate; oxidative stress; inflammation; apoptosis; necroptosis; nephrotoxicity
目的:甲氨蝶呤(Mtx)引起的肾毒性是化疗中最重要的问题之一。氧化应激和炎症是甲氨蝶呤引起肾毒性的主要病理机制。Alamandine (Ala)是肾素-血管紧张素系统(RAS)的新成员,是一种具有抗氧化和抗炎功能的重要肽。本研究探讨Ala是否通过降低氧化应激和炎症来改善mtx诱导的肾损伤。材料与方法:雄性Wistar白化大鼠分为对照组、Mtx组、Mtx+Ala组。在实验结束时,肾脏组织被迅速移除。通过测定谷胱甘肽(GSH)和丙二醛(MDA)水平来确定肾组织中的氧化状态。此外,对组织样本进行组织病理学和免疫组化检测,检测热休克蛋白60 (HSP60)、caspase-3、肿瘤坏死因子-α (TNF-α)和受体相互作用蛋白激酶3 (RIPK3)。结果:Mtx治疗导致GSH含量降低,MDA水平升高,热休克蛋白60 (HSP60)和caspase-3表达升高。甲氨蝶呤处理大鼠肾脏组织的这些变化引发以细胞凋亡和肾损伤为特征的氧化应激。Mtx还显著增加炎症标志物TNF-α和坏死下垂标志物RIPK3的表达。然而,Ala通过抑制氧化应激和炎症,减少细胞凋亡和坏死下垂,显著减轻mtx诱导的肾损伤。结论:综上所述,我们的研究结果支持Ala治疗可以作为一种新的有前途的治疗策略来治疗甲氨蝶呤引起的肾毒性。关键词:Alamandine;甲氨蝶呤;氧化应激;炎症;细胞凋亡;necroptosis;肾毒性
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引用次数: 0
Retrospective Analysis of Poisoning Cases in the Pediatric Intensive Care Unit 儿科重症监护病房中毒病例回顾性分析
Pub Date : 2023-01-01 DOI: 10.5455/annalsmedres.2023.05.114
S. Yavuz, Ali Avc, Feyat Tunç, Sabahattin Ekin
Aim: According to the World Health Organization (WHO) data, poisonings are still a significant reason for mortality and morbidity in the childhood group. The rapid technological developments and the change in socio-cultural structures have caused an increase in chemical substances in homes, and the easy access of children to these chemicals has increased the possibility of poisoning. We aimed to make a retrospective analysis of patients with a diagnosis of poisoning hospitalized in the pediatric intensive care unit (PICU). Materials and methods: The current clinical study is a retrospective, observational, single-center study and contains children adopted to the tertiary PICU of the 16-bed Batman Training and Research Hospital between March 2021 and March 2022 with a diagnosis of acute poisoning. Results: Forty patients were female (56.3%), and 31 patients were male (43.7%). All patients were admitted to the intensive care unit for advanced and supportive treatment. Supportive treatment was sufficient for 42 patients (59.2%). As advanced treatment; N-acetylcysteine infusion was given to 14 patients (19.7), oxygen to 3 patients (4.2%), inotropic support to 2 patients (2.8%), mechanical ventilatory support to 1 patient (1.4%), and antidote to 1 patient (1.4%). No mortality was observed, but some patients progressed morbidly and needed a mechanical ventilator and inotropic agent support. Conclusion: No mortality was observed, but some patients progressed morbidly and needed mechanical ventilatory support and inotropic agents. For this reason, the physician who first encounters the patient in the emergency department should evaluate each patient and the poison separately.
目的:根据世界卫生组织(世卫组织)的数据,中毒仍然是儿童群体死亡和发病的一个重要原因。迅速的技术发展和社会文化结构的变化导致家庭中化学物质的增加,儿童容易接触到这些化学物质增加了中毒的可能性。我们的目的是对儿科重症监护病房(PICU)诊断为中毒住院的患者进行回顾性分析。材料和方法:目前的临床研究是一项回顾性、观察性、单中心研究,纳入了2021年3月至2022年3月期间被蝙蝠侠培训与研究医院16张床位的三级PICU收养并诊断为急性中毒的儿童。结果:女性40例(56.3%),男性31例(43.7%)。所有患者均入住重症监护室接受高级和支持性治疗。42例(59.2%)患者支持治疗是足够的。作为高级治疗;n -乙酰半胱氨酸输注14例(19.7%),吸氧3例(4.2%),肌力支持2例(2.8%),机械呼吸支持1例(1.4%),解毒剂1例(1.4%)。没有观察到死亡,但一些患者病情发展,需要机械呼吸机和肌力药物支持。结论:无死亡病例,但部分患者出现病理性进展,需要机械通气支持和肌力药物治疗。因此,第一次在急诊科遇到病人的医生应该分别评估每个病人和毒药。
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引用次数: 0
EVALUATION OF MANDIBULAR FRACTURE PATTERNS AND TREATMENT METHODS: A SINGLE CENTER RETROSPECTIVE STUDY 评估下颌骨骨折类型和治疗方法:一项单中心回顾性研究
Pub Date : 2023-01-01 DOI: 10.5455/annalsmedres.2023.05.120
C. Asan, Emil Mursalov, A. Demirba, E. Soylu, S. Bilge, C. Topan, Y. Kaba, A. Alkan
Objectives: Mandible fractures are among the most common bone fractures in the maxillofacial region. Correct and early treatment is important in mandible fractures. The aim of this study is to retrospectively examine and analyze the patterns and treatment methods of mandibular fractures seen in patients admitted with trauma. Methods: Patients treated for mandible fractures between 2006- 2021 years were included in this retrospective study. The files and archive records of the patients were scanned retrospectively. Demographic, clinical and radiological data were recorded. The treatment methods of the patients included in the study were evaluated. Results: 176 patients with a total of 246 fractures were included to the study. Simple fractures were found in 130 patients, green tree fractures in 12 patients, and comminuted fractures in 34 patients. There were 147 un-favorable and 29 favorable fractures in total. Fall was found to be the most common etiologic cause in all gender and age groups (n=55, 31.2%). Angle fracture was observed most frequently in single fracture cases, while condyle fracture was the most common accompanying fracture type in multiple fractures. 88 patients were treated with the open and, 56 with the closed approach, and 32 with both the open and closed approach. Conclusion: Fracture type and etiologic cause are closely related with the type of the fracture. Mandible fractures should be carefully examined and the most appropriate treatment for the type of fracture should be applied as soon as possible.
目的:下颌骨骨折是颌面部最常见的骨折之一。正确的早期治疗对下颌骨骨折至关重要。本研究的目的是回顾性研究和分析创伤患者下颌骨骨折的模式和治疗方法。方法:2006- 2021年间接受下颌骨骨折治疗的患者纳入本回顾性研究。对患者的档案和档案记录进行回顾性扫描。记录了人口统计学、临床和放射学数据。对纳入研究的患者的治疗方法进行评价。结果:176例患者共246例骨折纳入研究。单纯性骨折130例,青树性骨折12例,粉碎性骨折34例。不良骨折147例,有利骨折29例。跌倒是所有性别和年龄组中最常见的病因(n=55, 31.2%)。单发骨折以角度骨折为多见,多发骨折以髁状骨折为多见。其中开放入路88例,封闭入路56例,开合入路32例。结论:骨折类型及病因与骨折类型密切相关。下颌骨骨折应仔细检查,并应尽快采用最适合骨折类型的治疗方法。
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引用次数: 0
An evaluation of rapid antigen tests diagnostic performance in the detection of SARS-CoV-2 infection 快速抗原试验在检测SARS-CoV-2感染中的诊断效果评价
Pub Date : 2023-01-01 DOI: 10.5455/annalsmedres.2022.10.311
A. M. Res, G. Bayram, Harun Gulbudak, Taylan Bozok, G. Aslan
Aim: The study aimed simultaneously compare the diagnostic performance of the rapid antigen test (CoVard COVID-19 Rapid Antigen Test Kit, Turkey) and the RT-PCR test used in the detection of SARS-CoV-2 infection. Materials and Methods: In this study, the results of rapid antigen tests and RT-PCR tests applied simultaneously to the diagnosis of SARS-CoV-2 infection on nasopharyngeal swab specimens taken from patients applying to the …… University Hospital Emergency Unit with various symptoms were retrospectively analyzed. The study included 308 patients with or without respiratory tract infection symptoms who underwent COVID-19 rapid antigen and RT-PCR testing. Results: It was observed that 157 (51.0%) of the patients had symptoms related to COVID-19. A total of 50 (16.2%; 95%CI: 12.0-20.5%) of the patients' rapid antigen test and 97 (31.5%; 95%CI: 26.3-37.0) of the patients' RT-PCR test were positive. The rapid antigen test for 41 (42.3%; 95%CI: 32.0-52.9) out of 97 specimens with a positive RT-PCR test was also positive. The rapid antigen test was positive in nine (18%; 95%CI: 8.6-28.6) specimens while the RT-PCR test was negative. The concordance between the rapid antigen test and the RT-PCR was intermediate (k=0.437, p<0.0005). Conclusion: Compared to nucleic acid-based tests, rapid antigen tests are practical and fast, as well as not requiring experienced personnel and special laboratory infrastructure. It was concluded that the use of rapid antigen tests will help provide rapid triage in emergency services, especially during the times when cases with COVID-19 are on the rise.
目的:本研究旨在同时比较快速抗原检测(CoVard COVID-19快速抗原检测试剂盒,土耳其)和RT-PCR检测在SARS-CoV-2感染中的诊断性能。材料与方法:回顾性分析在......大学医院急诊科就诊的不同症状患者鼻咽拭子标本中同时应用快速抗原检测和RT-PCR检测诊断SARS-CoV-2感染的结果。该研究包括308名有或无呼吸道感染症状的患者,他们接受了COVID-19快速抗原和RT-PCR检测。结果:157例(51.0%)患者出现新冠肺炎相关症状。共50例(16.2%;95%CI: 12.0 ~ 20.5%), 97% (31.5%;95%CI: 26.3 ~ 37.0)的患者RT-PCR检测呈阳性。快速抗原检测41例(42.3%);95%CI: 32.0-52.9)在97例RT-PCR检测阳性的标本中也呈阳性。快速抗原试验阳性9例(18%;95%CI: 8.6-28.6), RT-PCR检测为阴性。快速抗原检测结果与RT-PCR结果的一致性为中等(k=0.437, p<0.0005)。结论:与核酸检测相比,抗原快速检测实用、快捷,且不需要经验丰富的人员和专门的实验室基础设施。结论是,使用快速抗原检测将有助于在紧急服务中提供快速分诊,特别是在COVID-19病例呈上升趋势的时期。
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引用次数: 0
Comparison of Hysterosalpingography Diagnostic Value with Laparoscopy and Hysteroscopy Findings in Infertility Research 子宫输卵管造影与腹腔镜、宫腔镜诊断不孕症的价值比较
Pub Date : 2023-01-01 DOI: 10.5455/annalsmedres.2023.03.073
A. K., Muradiye m
Objective: To compare hysterosalpingography (HSG) findings with laparoscopy (LS) and hysteroscopy (HS) findings in infertile patients and evaluate their adequacy in diagnosis Materials and Methods: The presented retrospective study was conducted on 106 patients diagnosed with primary and secondary infertility. LS-HS procedure was applied to the cases who could not get pregnant at the end of six months after HSG. Sociodemographic data and tubal, uterine, endometrial, and pelvic findings were compared. Sensitivity, specificity, and positive and negative predictive values were calculated. Results: Primary infertility was observed at a higher rate. (n=68, 64.2%). Most of the patients were in the 24-29 age group. The maximum duration of infertility has been observed in the range of 1-4 years. Compared with LS in tubal patency, the sensitivity of HSG was 85%, specificity 65%, positive predictivity 88.3%, and negative predictivity 58.6%. Compared with HS in detecting uterine pathologies, the sensitivity of HSG was 94.9%, specificity 53.3%, positive predictivity 72.7%, and negative predictivity 89.7%. Conclusion: In evaluating infertile patients, HSG is reliable in detecting tubal blockade. Due to its low specificity, invasive methods can be applied, especially in unexplained infertility whose pathology is not seen in HSG. These methods are complementary rather than the alternative.
目的:比较子宫输卵管造影(HSG)与腹腔镜(LS)、宫腔镜(HS)在不孕症诊断中的表现,评价其诊断的充分性。材料和方法:对106例原发性和继发性不孕症患者进行回顾性研究。LS-HS适用于HSG术后6个月仍不能怀孕的患者。比较社会人口学数据和输卵管、子宫、子宫内膜和盆腔的结果。计算敏感性、特异性、阳性预测值和阴性预测值。结果:原发性不孕症发生率较高。64.2% (n = 68)。大多数患者年龄在24-29岁之间。不孕症的最长持续时间为1-4年。与LS相比,HSG在输卵管通畅方面的敏感性为85%,特异性为65%,阳性预测值为88.3%,阴性预测值为58.6%。与HS相比,HSG检测子宫病变的敏感性为94.9%,特异性为53.3%,阳性预测值为72.7%,阴性预测值为89.7%。结论:输卵管造影对不孕症患者的诊断是可靠的。由于其特异性较低,可以采用有创方法,特别是在HSG未见病理的不明原因不孕症。这些方法是互补的,而不是相互替代的。
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引用次数: 0
Investigation of the relationship between the PaO₂/FiO₂ ratio and Wells score in patients diagnosed with acute pulmonary embolism 对确诊为急性肺栓塞患者的 PaO₂/FiO₂比值与威尔斯评分之间关系的研究
Pub Date : 2023-01-01 DOI: 10.5455/annalsmedres.2022.10.321
Fatma Tortum, A. Gur
{"title":"Investigation of the relationship between the PaO₂/FiO₂ ratio and Wells score in patients diagnosed with acute pulmonary embolism","authors":"Fatma Tortum, A. Gur","doi":"10.5455/annalsmedres.2022.10.321","DOIUrl":"https://doi.org/10.5455/annalsmedres.2022.10.321","url":null,"abstract":"<jats:p />","PeriodicalId":8248,"journal":{"name":"Annals of Medical Research","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84525532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Audiologic follow up results of child with NGLY1 deficiency NGLY1缺乏症患儿听力学随访结果
Pub Date : 2023-01-01 DOI: 10.5455/annalsmedres.2023.01.022
Oğulcan Gundogdu, Cem Yeral, Oğuz Yılmaz, Y. Bayazıt
NGLY1 deficiency is a rare in which affected individuals show developmental delay/intellectual disability in the mild to profound range, epilepsy, auditory neuropathy, abnormal liver function, complex hyperkinetic movement disorder and poor growth. Here, we present the follow-up results of hearing status in a patient with NGLY1 deficiency.
NGLY1缺乏症是一种罕见的疾病,患者表现为发育迟缓/轻度至重度智力残疾、癫痫、听神经病变、肝功能异常、复杂的多动运动障碍和生长不良。在这里,我们报告了NGLY1缺乏症患者听力状况的随访结果。
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引用次数: 0
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Annals of Medical Research
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