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Correction. 修正。
IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-10-01 DOI: 10.7860/JCDR/2023/20989.18507

[This corrects the article DOI: 10.7860/JCDR/2017/20989.9533.].

[这更正了文章DOI:10.7860/JCDR/2017/20989.9533。]。
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引用次数: 0
Correction. 校正
IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-09-01 DOI: 10.7860/JCDR/2023/7403.18415

[This corrects the article DOI: 10.7860/JCDR/2014/7403.4521.].

[这更正了文章DOI:10.7860/JCDR/2014/7403.4521.]。
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引用次数: 0
Correction. 校正
IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-08-01 DOI: 10.7860/JCDR/2023/6877.18326

[This corrects the article DOI: 10.7860/JCDR/2014/6877.3916.].

[这更正了文章DOI:10.7860/JCDR/2014/6877.3916。]。
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引用次数: 0
Correction. 修正。
IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-05-01 DOI: 10.7860/JCDR/2023/9635.17974

[This corrects the article DOI: 10.7860/JCDR/2014/9635.4771.].

[此更正文章DOI: 10.7860/JCDR/2014/9635.4771.]。
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引用次数: 0
Knowledge, Attitude and Practice of Rational Use of Medicine among Interns and Resident Doctors in Tertiary Care Teaching Hospital of Western City of Gujarat: A Cross-sectional Study 古吉拉特邦西部城市三级教学医院实习医师和住院医师合理用药知识、态度和行为的横断面研究
IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-01-01 DOI: 10.7860/jcdr/2023/60293.17963
Samprada Y Tank, Jimmy Kagathara
Introduction: According to the definition of Rational Use of Medicine (RUM), patients must receive pharmaceuticals that are “suitable to their clinical needs, in doses that fit their own specific requirements, for an adequate period of time, and at the lowest cost to them and their community”. By prescribing the proper medications in the proper dosages, doctors can influence the health and well-being of their patients. Aim: To evaluate the knowledge, attitudes, and practices of interns and resident doctors towards RUM in tertiary care center, Jamnagar, Gujarat. Materials and Methods: A cross-sectional, questionnaire-based study was conducted in August 2022 in Guru Gobind Singh Government Hospital, Jamnagar, Gujarat. Total 149 first year postgraduate students (residents doctors) from different specialties and 205 intern students of a tertiary care teaching hospital were included in the study. A questionnaire was administered, which included the questions regarding socio-demographic profile, use of Essential Medicines (EM), RUM, concept of Personal drugs (P-drug) and source of drug information. Data were statistically analysed using Chi-square test. Results: Mean age of Resident Doctors was 24.55±1.74 years while of interns was 22.86±1.27 years. Eighteen (12.08%) residents and 9 (4.39%) interns knew what the phrase RUM meant. At their place of employment, the National Model Essential Drug List was accessible to 12 (5.6%) interns and 16 (10.73%) residents. Out of total, 190 (92.68%) interns and 143 (95.97%) residents were able to identify the components of the prescription slip accurately. The word P-drug was known to roughly 74 (36.09%) interns and 34 (22.81%) residents, of which 45 (21.95%) interns and 27 (18.12%) residents were aware of the Safety, Tolerability, Efficacy, Price (STEP) criteria for P-drug selection. Conclusion: Majority of the responders seem to be aware of the concept of EM and RUM, while the word P-drug seems to be quite unknown to the responders. However, majority of responders prescribed EM which are old drugs. Since, the awareness of RUM among interns and residents was found to be inadequate it has critical importance to hold educational activities with the cooperation of physicians, health organisations, universities to avoid negative consequences of irrational drug use.
导言:根据合理用药(RUM)的定义,患者必须获得“适合其临床需要的药物,剂量符合其自身的特定要求,持续足够的时间,并以对他们及其社区最低的成本”。通过开出适当剂量的适当药物,医生可以影响病人的健康和福祉。目的:评估古吉拉特邦贾姆纳格尔三级医疗中心实习生和住院医生对RUM的知识、态度和实践。材料和方法:2022年8月在古吉拉特邦贾姆纳格尔古鲁·戈宾德·辛格政府医院进行了一项基于问卷的横断面研究。本研究共纳入某三级医疗教学医院不同专业的一年级研究生(住院医师)149名和实习学生205名。进行了问卷调查,其中包括有关社会人口概况、基本药物(EM)使用、RUM、个人药物概念(P-drug)和药物信息来源的问题。资料采用卡方检验进行统计学分析。结果:住院医师平均年龄为24.55±1.74岁,实习医师平均年龄为22.86±1.27岁。18名(12.08%)住院医生和9名(4.39%)实习医生知道RUM的意思。在他们的工作地点,12名实习生(5.6%)和16名居民(10.73%)可以获得国家基本药物标准清单。其中,190名(92.68%)实习生和143名(95.97%)住院医师能够准确识别处方单的成分。大约74名实习生(36.09%)和34名住院医生(22.81%)知道P-drug这个词,其中45名实习生(21.95%)和27名住院医生(18.12%)知道P-drug选择的Safety, tolerance, Efficacy, Price (STEP)标准。结论:大多数应答者似乎知道EM和RUM的概念,而P-drug这个词似乎对应答者来说是相当陌生的。然而,大多数应答者开的是EM,这是旧药。由于发现实习生和住院医生对RUM的认识不足,因此与医生、卫生组织和大学合作举办教育活动以避免不合理使用药物的负面后果至关重要。
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引用次数: 0
Incidence of Ossification of Caroticoclinoid Ligament in Dry Adult Human Skulls with its Surgical Implications: A Cross-sectional Study from Telangana Region, India 干成人颅骨颈斜韧带骨化的发生率及其手术意义:来自印度泰伦加纳地区的横断面研究
IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-01-01 DOI: 10.7860/jcdr/2023/63911.17997
K. E. V. Rao, Rama Devi Avula, P. Sirikonda, R. Katikireddi
Introduction: The caroticoclinoid ligament extends from the Anterior Clinoid Process (ACP) to the Middle Clinoid Process (MCP). Occasionally, it gets ossified and forms the caroticoclinoid foramen. Anterior clinoidectomy is a common surgical procedure to treat internal carotid artery aneurysms or pituitary tumours. Abnormal ossification of the caroticoclinoid ligament may lead to intraoperative or postoperative complications as it is not normally present. Aim: To find out the incidence of ossification of the caroticoclinoid ligament in adult human skulls. Materials and Methods: This was an observational crosssectional study that included 100 dry adult human skulls collected from the Department of Anatomy, Gandhi Medical College, Secunderabad; Osmania Medical College, Hyderabad; Bhaskar Medical College, Moinabad, Telangana, India, from January 2021 to February 2023. Adult human skulls with open vault were included. All the skulls were observed and skulls damaged in the clinoid regions were excluded from the study. The skulls were observed for the presence of any ossifications of the caroticoclinoid ligaments and the observations were noted. The qualitative data was presented as number and percentage was calculated. The data was recorded in MS excel version 2021. Results: The incidence of ossification of caroticoclinoid ligament was 8 (8%). The incidence was higher on right-side when compared to the left-side. Bilateral complete ossification of the caroticoclinoid ligament was observed in 2 (2%) skulls; bilateral incomplete ossification was observed in 3 (3%) skulls, unilateral complete ossification was observed in 2 (2%) skulls on the right-side. In one skull 1 (1%), complete ossification was observed on the right-side and incomplete ossification was observed on the left-side. Conclusion: Knowledge of the ossification of the caroticoclinoid ligament is important for neurosurgeons while performing anterior clinoidectomies or skull base surgeries. Radiological confirmation of the ossification of the caroticoclinoid ligament is essential to avoid complications.
颈斜韧带从前斜突(ACP)延伸至中斜突(MCP)。偶尔,它会骨化并形成颈斜孔。前突切除术是治疗颈内动脉瘤或垂体瘤的常用手术方法。颈斜韧带异常骨化可能导致术中或术后并发症,因为它通常不存在。目的:了解成人颅骨颈斜韧带骨化的发生率。材料和方法:这是一项观察性横断面研究,包括从塞昆德拉巴德甘地医学院解剖学系收集的100个干燥的成人头骨;海得拉巴奥斯马尼亚医学院;印度特伦甘纳邦莫伊纳巴德巴斯卡尔医学院,2021年1月至2023年2月。成人颅骨开放拱顶包括在内。对所有颅骨进行观察,排除斜突区受损颅骨。观察颅骨是否存在颈斜韧带骨化,并记录观察结果。定性数据以数字表示,计算百分比。数据记录在MS excel版本2021中。结果:颈斜韧带骨化发生率为8例(8%)。右侧病变发生率高于左侧病变。2例(2%)颅骨出现双侧颈斜韧带完全骨化;3例(3%)颅骨双侧不完全骨化,2例(2%)颅骨右侧单侧完全骨化。1例颅骨1(1%)右侧完全骨化,左侧不完全骨化。结论:对颈斜韧带骨化的认识对神经外科医生进行前颈斜韧带切除术或颅底手术是很重要的。颈斜韧带骨化的影像学确认对于避免并发症至关重要。
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引用次数: 0
Effect of Mind Sound Resonance Technique on Selected Psycho-emotional Well-being Parameters in Secondary School Students: A Randomised Controlled Trial 心音共振技术对中学生心理情绪健康参数的影响:一项随机对照试验
IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-01-01 DOI: 10.7860/jcdr/2023/61132.17626
Introduction: Mind Sound Resonance Technique (MSRT) is a yogic relaxation technique, which creates a resonance of the “A,” “U,” “M,” “AUM,” and Mahämåtyuïjaya mantra chanting to provide a delicate massage sensation throughout the body. Adolescence is a developmental stage marked by changes in social, emotional, and cognitive functioning. Studies have demonstrated the benefits of yoga, pranayama, and meditation regarding health and mental issues in both adolescents and adults. Aim: To see the effect of the MSRT on selected psycho-emotional parameters in secondary school students. Materials and Methods: In this randomised controlled trial, data of total 63 adolescents (intervention group (n=32) and control group (n=31) were analysed, who were selected from two English medium schools in Udaipur, Tripura (northeast India). The intervention group was provided the MSRT for 30 minutes each day for 21 sessions, whereas the control group went through only the daily routine, in the month of April 2022. The data were collected using questionnaires, prior to and after the intervention. Independent sample test and paired sample t-test were done for ‘between groups’ and ‘within group’ comparison respectively for the variables i.e., emotion regulation, impulsivity, creative thinking, critical thinking, and interpersonal relationship. Mann-whitney test and Wilcoxon-signed rank test were done for ‘between groups’ and ‘within group’ comparison, respectively for the variables i.e., aggression and mindfulness. Results: The intervention group showed significant improvement in mindfulness (p<0.001), creative thinking (p<0.001), critical thinking (p<0.001), interpersonal relationship (p<0.001), emotion regulation (p=0.005) and a significant reduction in aggression (p<0.001) and impulsivity (p=0.001) compared to control group. Conclusion: Based on the result of the present study it is suggested that MSRT can help to improve the psycho-emotional well-being of adolescents.
简介:心灵声音共振技术(MSRT)是一种瑜伽放松技术,它创造了一个共振的“a”,“U”,“M”,“AUM”和Mahämåtyuïjaya咒语念诵,提供一个微妙的按摩感觉遍及全身。青春期是一个以社会、情感和认知功能的变化为特征的发展阶段。研究表明,瑜伽、调息和冥想对青少年和成年人的健康和精神问题都有好处。目的:观察MSRT对中学生部分心理情绪参数的影响。材料与方法:本随机对照试验选取印度东北部特里普拉邦乌代普尔两所英语中等学校的63名青少年(干预组(n=32)和对照组(n=31))进行数据分析。在2022年4月,干预组每天接受30分钟的MSRT,共21次,而对照组只接受日常的MSRT。数据是在干预前后通过问卷收集的。对情绪调节、冲动、创造性思维、批判性思维、人际关系等变量分别进行“组间”比较和“组内”比较的独立样本检验和配对样本t检验。侵略和正念这两个变量的“组间”比较采用Mann-whitney检验,“组内”比较采用wilcoxon -sign秩检验。结果:干预组在正念(p<0.001)、创造性思维(p<0.001)、批判性思维(p<0.001)、人际关系(p<0.001)、情绪调节(p=0.005)、攻击性(p<0.001)和冲动性(p=0.001)方面均较对照组显著改善。结论:基于本研究结果,提示MSRT有助于改善青少年的心理情绪健康。
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引用次数: 0
Association between Migraine Patterns and White Matter Hyperintensities in MRI Brain: A Cross-sectional Analytical Study 偏头痛模式与MRI脑白质高强度之间的关系:一项横断面分析研究
Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-01-01 DOI: 10.7860/jcdr/2023/62607.18539
Jibin Antony, Athul Damodaran Namboothiri, Lenythomas Mathew
Introduction: Migraine is a neurological condition characterised by recurrent episodes of headaches. The role of Magnetic Resonance Imaging (MRI) as a diagnostic tool in evaluating migraines is yet to be fully understood. Changes that occur in the blood vessels during a migraine attack lead to hypoperfusion in the brain, causing neurovascular dysfunction and cortical spreading depression. These events are manifested as White Matter Hyperintensities (WMHs) in brain MRI. Aim: To determine the association between migraine patterns and WMHs in the MRI brain scans. Materials and Methods: A cross-sectional analytical study was conducted at Department of Neurology, Mar Baselios Medical Mission Hospital, a tertiary care centre for Neurology and Movement disorders in South India, from June 2021 to June 2022. The study included 100 patients aged between 18 and 50 years who had been diagnosed with migraine. A questionnaire was prepared, which included various parameters such as the presence or absence of aura, duration, frequency, tolerability, disability, intensity of pain, nausea, and resistance to treatment. The severity of migraine in the patients was evaluated using the Migraine Intensity and Severity Evaluation (MIGSEV) scale, which considers parameters such as pain intensity, attack duration, nausea, disability, tolerability, treatment resistance, and attack frequency. Based on this assessment, patients were classified into Grade I, II, or III. After obtaining informed consent, MRI brain scans were performed on all patients. Patients exhibiting WMHs underwent Gadolinium IV contrast, and those with contrast-enhancing lesions underwent whole spine screening and CSF analysis testing. Statistical Package for the Social Sciences (SPSS) version 20.0 was used for data analysis. The statistical tests employed included the MannWhitney test, Kruskal-Wallis test and Spearman coefficient. Results: The mean age of the participants was 28.60±7.0 years. WMHs were present in 47 out of 100 patients (47%). A significant association was observed between WMHs and aura (U=487.50) (p-value<0.001). Multivariate analysis revealed that migraine severity grade, pain intensity during the attack, nausea, disability, tolerability, migraine duration, and resistance to treatment were statistically significant with a p-value of <0.001. Conclusion: WMHs in MRI were more significant in patients with Grade III MIGSEV scores. There was a statistically significant association between the number of WMHs, high intensity of pain, vomiting, severe disability, and tolerability during a migraine attack. Therefore, these parameters can be considered as risk factors for developing WMHs in the brain MRI of migraine patients.
简介:偏头痛是一种以头痛反复发作为特征的神经系统疾病。磁共振成像(MRI)作为一种评估偏头痛的诊断工具的作用尚未完全了解。偏头痛发作时血管发生的变化导致大脑灌注不足,导致神经血管功能障碍和皮质扩张性抑制。这些事件在脑MRI上表现为白质高强度(WMHs)。目的:在MRI脑扫描中确定偏头痛模式与WMHs之间的关系。材料和方法:2021年6月至2022年6月,在南印度神经病学和运动障碍三级护理中心Mar Baselios Medical Mission Hospital神经内科进行了一项横断面分析研究。该研究包括100名年龄在18岁到50岁之间被诊断患有偏头痛的患者。准备了一份调查问卷,其中包括各种参数,如先兆是否存在、持续时间、频率、耐受性、残疾、疼痛强度、恶心和对治疗的抵抗力。使用偏头痛强度和严重程度评估(MIGSEV)量表评估患者偏头痛的严重程度,该量表考虑了诸如疼痛强度、发作持续时间、恶心、残疾、耐受性、治疗抵抗和发作频率等参数。基于此评估,将患者分为I级、II级和III级。在获得知情同意后,对所有患者进行MRI脑部扫描。表现为WMHs的患者接受了IV级钆造影剂,有增强病变的患者接受了全脊柱筛查和脑脊液分析测试。使用SPSS 20.0版本进行数据分析。采用的统计检验包括MannWhitney检验、Kruskal-Wallis检验和Spearman系数。结果:参与者平均年龄28.60±7.0岁。100例患者中有47例(47%)存在wmh。WMHs与先兆之间存在显著相关性(U=487.50) (p值<0.001)。多变量分析显示,偏头痛严重程度、发作时疼痛强度、恶心、残疾、耐受性、偏头痛持续时间和治疗耐受性具有统计学意义,p值为0.001。结论:MRI wmh在MIGSEV评分为III级的患者中更为显著。在偏头痛发作期间,wmh的数量、高强度疼痛、呕吐、严重残疾和耐受性之间存在统计学上显著的关联。因此,这些参数可以被认为是偏头痛患者脑MRI中发生wmh的危险因素。
{"title":"Association between Migraine Patterns and White Matter Hyperintensities in MRI Brain: A Cross-sectional Analytical Study","authors":"Jibin Antony, Athul Damodaran Namboothiri, Lenythomas Mathew","doi":"10.7860/jcdr/2023/62607.18539","DOIUrl":"https://doi.org/10.7860/jcdr/2023/62607.18539","url":null,"abstract":"Introduction: Migraine is a neurological condition characterised by recurrent episodes of headaches. The role of Magnetic Resonance Imaging (MRI) as a diagnostic tool in evaluating migraines is yet to be fully understood. Changes that occur in the blood vessels during a migraine attack lead to hypoperfusion in the brain, causing neurovascular dysfunction and cortical spreading depression. These events are manifested as White Matter Hyperintensities (WMHs) in brain MRI. Aim: To determine the association between migraine patterns and WMHs in the MRI brain scans. Materials and Methods: A cross-sectional analytical study was conducted at Department of Neurology, Mar Baselios Medical Mission Hospital, a tertiary care centre for Neurology and Movement disorders in South India, from June 2021 to June 2022. The study included 100 patients aged between 18 and 50 years who had been diagnosed with migraine. A questionnaire was prepared, which included various parameters such as the presence or absence of aura, duration, frequency, tolerability, disability, intensity of pain, nausea, and resistance to treatment. The severity of migraine in the patients was evaluated using the Migraine Intensity and Severity Evaluation (MIGSEV) scale, which considers parameters such as pain intensity, attack duration, nausea, disability, tolerability, treatment resistance, and attack frequency. Based on this assessment, patients were classified into Grade I, II, or III. After obtaining informed consent, MRI brain scans were performed on all patients. Patients exhibiting WMHs underwent Gadolinium IV contrast, and those with contrast-enhancing lesions underwent whole spine screening and CSF analysis testing. Statistical Package for the Social Sciences (SPSS) version 20.0 was used for data analysis. The statistical tests employed included the MannWhitney test, Kruskal-Wallis test and Spearman coefficient. Results: The mean age of the participants was 28.60±7.0 years. WMHs were present in 47 out of 100 patients (47%). A significant association was observed between WMHs and aura (U=487.50) (p-value<0.001). Multivariate analysis revealed that migraine severity grade, pain intensity during the attack, nausea, disability, tolerability, migraine duration, and resistance to treatment were statistically significant with a p-value of <0.001. Conclusion: WMHs in MRI were more significant in patients with Grade III MIGSEV scores. There was a statistically significant association between the number of WMHs, high intensity of pain, vomiting, severe disability, and tolerability during a migraine attack. Therefore, these parameters can be considered as risk factors for developing WMHs in the brain MRI of migraine patients.","PeriodicalId":15483,"journal":{"name":"JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH","volume":"176 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135101989","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
Comparison of the Retention Rates of Pit and Fissure Sealants Placed on First Permanent Molars Treated with Air Abrasion and Acid Etching: A Split-mouth Randomised Clinical Trial 空气磨蚀和酸蚀治疗第一恒磨牙牙槽和牙槽充填剂固位率的比较:裂口随机临床试验
Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-01-01 DOI: 10.7860/jcdr/2023/62942.18551
Bodike Deepika, C Vinay, KS Uloopi, Kakarla Sri Roja Ramya, Penmatsa Chaitanya, MV Ramesh
Introduction: Pit and fissure sealants are a reliable and safe method of occlusal caries prevention. Accurate preconditioning of the enamel surface is essential for long-term sealant retention. Aim: To assess the retention rate of pit and fissure sealants applied to first permanent molars treated with air abrasion and acid etching in children aged 6 to 9 years. Materials and Methods: This split-mouth randomised study was conducted in the Department of Paediatric Dentistry, Vishnu Dental College, Bhimavaram, Andhra Pradesh, India from March 2019 to March 2020. The study included 45 children aged 6-9 years with 180 completely erupted maxillary and mandibular first permanent molars. The children were randomly divided into two groups: Group-I (Air Abrasion) and Group-II (Conventional Acid Etch). After pretreatment of the enamel surface with either air abrasion or acid etching, sealant was applied. Sealant retention was evaluated at 6- and 12-month intervals using Tonn and Ryge’s scoring criteria under a dental operating microscope. Statistical analysis was performed using the Wilcoxon Signedrank Test and the Mann-Whitney U Test. Results: The mean age of the study participants was 7.6±0.5 years at the 12-month interval, complete sealant retention was observed in 23% of teeth in the air abrasion group and 21% in the acid etch group. The p-value of 0.657 indicates that the difference was not statistically significant. The comparison of sealant retention rates in maxillary and mandibular molars treated with both air abrasion (p=0.191, p=0.881) and acid etching (p=1.000, p=0.574) showed no statistically significant differences at both the 6- and 12-month intervals. Conclusion: The retention rate of fissure sealants on enamel surfaces treated with air abrasion was comparable to acid etching. There was no difference in sealant retention rates between maxillary and mandibular molars in both the air abrasion and acid etch groups.
牙槽和牙槽密封剂是一种可靠、安全的预防牙合龋的方法。对牙釉质表面进行准确的预处理对于长期保持密封剂至关重要。目的:评价6 ~ 9岁儿童第一恒磨牙空气磨蚀酸蚀后牙窝及牙槽充填剂的保留率。材料和方法:这项分口随机研究于2019年3月至2020年3月在印度安得拉邦比希玛瓦拉姆市Vishnu牙科学院儿科牙科学系进行。研究对象为45名6-9岁的儿童,180颗上颌和下颌第一恒磨牙完全萌出。将患儿随机分为两组:ⅰ组(空气磨蚀)和ⅱ组(常规酸蚀)。用空气磨损或酸蚀对牙釉质表面进行预处理后,涂上密封胶。在牙科手术显微镜下,采用Tonn和Ryge评分标准,每隔6个月和12个月评估一次密封剂潴留。采用Wilcoxon sign检验和Mann-Whitney U检验进行统计分析。结果:研究对象的平均年龄为7.6±0.5岁,在12个月的间隔时间内,空气磨蚀组和酸蚀组的牙体完全固牙率分别为23%和21%。p值为0.657表示差异无统计学意义。空气磨蚀组(p=0.191, p=0.881)与酸蚀组(p=1.000, p=0.574)在上颌磨牙和下颌磨牙6个月和12个月间的密封剂保留率比较,差异均无统计学意义。结论:空气磨蚀与酸蚀对牙釉质表面缝隙封闭剂的保留率相当。空气磨蚀组和酸蚀组在上颌磨牙和下颌磨牙间的密封剂保留率无显著差异。
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引用次数: 0
Novel STXBP2 Mutation Causing Familial Haemophagocytic Lymphohistiocytosis Type 5 in a Preterm Neonate with Fatal Outcome: A Case Report 新型STXBP2突变导致家族性5型嗜血淋巴组织细胞增多症早产新生儿死亡:1例报告
Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-01-01 DOI: 10.7860/jcdr/2023/65845.18559
Laxman Basany, Vinay Batthula, Priyanka Naga Gandrakota, Navya Mamidi, Upparpally Pooja Reddy
Familial Haemophagocytic Lymphohistiocytosis (FHL) is an autosomal recessive disorder characterised by a hyperinflammatory state due to widespread infiltration of organs with macrophages and lymphocytes. Haemophagocytic Lymphohistiocytosis (HLH) presents with fever, hepatosplenomegaly, cytopenia, hyperferritinemia and haemophagocytosis in the reticuloendothelial tissues causing multi organ failure with fatal outcome. HLH is rare in neonates with an incidence of 1 in 50,000 to 1 in 150,000. FHL is diagnosed based on clinical criteria, biochemical abnormalities, and genetic mutation. Mutations involving the gene STXBP2 contributes to around 10% of cases of FHL and there are only a few cases of FHL5 reported from India. A six-week-old neonate presented with sepsis which was unresponsive to antibiotics. Persistent fever, bicytopenia, hepatosplenomegaly and laboratory tests made us suspect HLH, and evaluate further with whole exome sequencing. FHL5 was diagnosed based on the identification of homozygous missense mutation in exon 3 of STXBP2 gene (chr19: 7642803_7642803delA). The baby succumbed to sepsis and multi organ failure. HLH should be considered in the differential diagnosis of any sick infant who presents with prolonged fever, sepsis unresponsive to antibiotics and an unusual clinical course.
家族性嗜血球性淋巴组织细胞增多症(FHL)是一种常染色体隐性遗传病,其特征是由于巨噬细胞和淋巴细胞广泛浸润器官而导致高炎症状态。嗜血球性淋巴组织细胞增多症(HLH)表现为发热、肝脾肿大、细胞减少、高铁蛋白血症和网状内皮组织嗜血球增多,可导致多器官功能衰竭和致命结局。HLH在新生儿中很少见,发病率为5万分之一到15万分之一。FHL的诊断基于临床标准、生化异常和基因突变。涉及STXBP2基因的突变约占FHL病例的10%,而印度仅报告了少数FHL5病例。一个六周大的新生儿出现败血症,对抗生素无反应。持续发热、双氧减少、肝脾肿大和实验室检查使我们怀疑是HLH,并通过全外显子组测序进一步评估。通过鉴定STXBP2基因(chr19: 7642803_7642803delA)外显子3纯合错义突变,诊断为FHL5。婴儿死于败血症和多器官衰竭。在鉴别诊断任何表现为长时间发热、败血症对抗生素无反应和临床病程异常的患儿时,应考虑HLH。
{"title":"Novel STXBP2 Mutation Causing Familial Haemophagocytic Lymphohistiocytosis Type 5 in a Preterm Neonate with Fatal Outcome: A Case Report","authors":"Laxman Basany, Vinay Batthula, Priyanka Naga Gandrakota, Navya Mamidi, Upparpally Pooja Reddy","doi":"10.7860/jcdr/2023/65845.18559","DOIUrl":"https://doi.org/10.7860/jcdr/2023/65845.18559","url":null,"abstract":"Familial Haemophagocytic Lymphohistiocytosis (FHL) is an autosomal recessive disorder characterised by a hyperinflammatory state due to widespread infiltration of organs with macrophages and lymphocytes. Haemophagocytic Lymphohistiocytosis (HLH) presents with fever, hepatosplenomegaly, cytopenia, hyperferritinemia and haemophagocytosis in the reticuloendothelial tissues causing multi organ failure with fatal outcome. HLH is rare in neonates with an incidence of 1 in 50,000 to 1 in 150,000. FHL is diagnosed based on clinical criteria, biochemical abnormalities, and genetic mutation. Mutations involving the gene STXBP2 contributes to around 10% of cases of FHL and there are only a few cases of FHL5 reported from India. A six-week-old neonate presented with sepsis which was unresponsive to antibiotics. Persistent fever, bicytopenia, hepatosplenomegaly and laboratory tests made us suspect HLH, and evaluate further with whole exome sequencing. FHL5 was diagnosed based on the identification of homozygous missense mutation in exon 3 of STXBP2 gene (chr19: 7642803_7642803delA). The baby succumbed to sepsis and multi organ failure. HLH should be considered in the differential diagnosis of any sick infant who presents with prolonged fever, sepsis unresponsive to antibiotics and an unusual clinical course.","PeriodicalId":15483,"journal":{"name":"JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH","volume":"100 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135211184","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
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JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH
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