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Investigation of the Presence of Arachnoid Granulation in Fetuses and Early Infancy 胎儿和婴儿早期蛛网膜颗粒存在的调查
IF 0.3 Q4 Medicine Pub Date : 2022-01-01 DOI: 10.1055/s-0042-1758451
Eylem Burcu Kahraman Ozlu, Ali Erhan Kayalar, Y. Ertan
Abstract The aim of our study is to investigate the importance of arachnoid granulation in cerebrospinal fluid physiology in fetuses and early infancy. Using the random sampling method, postmortem fetuses more than 26 weeks of gestation age and the children under the age of 1 year were chosen from the autopsy materials. Two male and two female intrauterine dead fetus; three male and three female, totally six children under the age of 1 year and one 3-year-old male were included in this study. In cases of intrauterine fetuses more than 26 weeks of gestation and children under the age of 1 year, complete invagination of arachnoid villi into the superior sagittal sinus was examined histologically. In the intrauterine period and in the first 6 months of life, arachnoid villi structures were not found in histologic preparations although in preparations taken after the 6 months of life samples showed similarities to arachnoid granulations. These structures were considered as arachnoid villi drafts after immunohistochemical analysis. In the control case who were 3 years old, maturation of arachnoid villi was complete and the arachnoid villi were invaginated into the superior sagittal sinus as fingerlike extensions. In our study, we think that the failure after E3V intervention in the treatment of hydrocephalus in cases under the age of 1 years may be related to the completion of arachnoid granulation development after the 18th month of life and the immature resorption capacity in this period.
摘要本研究的目的是探讨蛛网膜颗粒在胎儿和婴儿早期脑脊液生理学中的重要性。采用随机抽样方法,从尸检材料中选择孕龄超过26周的尸检胎儿和1岁以下的儿童。两男两女宫内死亡胎儿;本研究包括3男3女、6名1岁以下儿童和1名3岁男性。在妊娠26周以上的宫内胎儿和1岁以下的儿童中,对蛛网膜绒毛完全内陷到上矢状窦进行组织学检查。在子宫内和生命的前6个月,组织学制剂中没有发现蛛网膜绒毛结构,尽管在生命的6个月后采集的制剂中,样本显示与蛛网膜颗粒相似。免疫组织化学分析后,这些结构被认为是蛛网膜绒毛草稿。在3岁的对照病例中,蛛网膜绒毛完全成熟,并且蛛网膜绒毛作为指状延伸部内陷到上矢状窦中。在我们的研究中,我们认为E3V干预治疗1岁以下脑积水的失败可能与18个月后蛛网膜颗粒发育完成以及这一时期吸收能力不成熟有关。
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引用次数: 0
Family Language Policies of Vietnamese–Australian Families 越南人-澳大利亚家庭的家庭语言政策
IF 0.3 Q4 Medicine Pub Date : 2022-01-01 DOI: 10.1055/s-0042-1743490
Van H. Tran, Sarah Verdon, S. Mcleod, Cen Wang
This study aimed to investigate reported family language policies (quy tắc sử dụng ngôn ngữ cho gia đình) and language maintenance practices among Vietnamese–Australian parents. This mixed-methods study collected 151 Vietnamese–Australian parents' responses to close- and open-ended questions within an online questionnaire that was available both in English and Vietnamese. Bivariate analyses and logistic regression were conducted to explore associations between family language policies and factors related to demographics and Spolsky's language policy theory. Content analysis was undertaken in NVivo to investigate family language policies. One-third of the participants (35.6%) reported to have a family language policy and 72.5% of those with a policy indicated that they consistently implemented their policy. Significant factors associated with having a family language policy were parents' higher Vietnamese proficiency, more Vietnamese language use with their children, and intention of future residence in Vietnam. The four identified language policies were as follows: (1) using Vietnamese with the nuclear family (FLP1), (2) Vietnamese outside the nuclear family (FLP2), (3) English at home (FLP3), and (4) English outside the home (FLP4). Some families used more than one of these concurrently. This is one of the first large-scale mixed-method studies to explore family language policies, and the first to explore this issue with Vietnamese-speaking families in Australia. Many Vietnamese–Australian families do not explicitly have a family language policy aimed at maintaining Vietnamese at home; therefore, the Vietnamese–Australian community is at risk of a shift toward English language dominance and home language loss. As a result, the benefits of multilingualism within the Vietnamese–Australian community may be lost without support from the government and community to maintain their home language.
本研究旨在调查已报道的家庭语言政策(quy tắc sử dụng ngôn ngữ cho gia djình)和越南-澳大利亚父母的语言维护实践。这项混合方法研究收集了151名越南裔和澳大利亚裔父母对英语和越南语在线问卷中的封闭式和开放式问题的回答。采用双变量分析和逻辑回归方法探讨了家庭语言政策与人口统计和斯波尔斯基语言政策理论相关因素之间的关系。NVivo进行了内容分析,以调查家庭语言政策。三分之一的参与者(35.6%)报告有家庭语言政策,72.5%的参与者表示他们一贯执行政策。与制定家庭语言政策相关的重要因素是父母的越南语水平更高,子女更多地使用越南语,以及未来在越南居住的意愿。已确定的四项语言政策如下:(1)在核心家庭中使用越南语(FLP1),(2)核心家庭以外的越南语(FL P2),(3)在家英语(FLP3),以及(4)在家外英语(FLP4)。一些家庭同时使用了不止一个。这是第一个探索家庭语言政策的大规模混合方法研究之一,也是第一个与澳大利亚讲越南语的家庭探讨这一问题的研究。许多越南人-澳大利亚家庭没有明确的家庭语言政策,旨在将越南人留在家中;因此,越南-澳大利亚社区面临着向英语主导地位转变和母语丧失的风险。因此,如果没有政府和社区的支持来维持其母语,越澳社区使用多种语言的好处可能会丧失。
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引用次数: 7
Assessing Language Skills in Bilingual Children: Current Trends in Research and Practice 双语儿童语言技能评估的研究与实践趋势
IF 0.3 Q4 Medicine Pub Date : 2022-01-01 DOI: 10.1055/s-0042-1743575
Max R. Freeman, Scott R. Schroeder
A continuously challenging issue in the field of speech–language pathology is accurately identifying and diagnosing a language disorder in school-aged (pre-kindergarten through 5th grade) bilingual children, as bilingual children are disproportionately under- and overidentified with a language disorder. The current review focuses on the assessment of bilingual children in pre-kindergarten through fifth grade, aimed to inform teachers, pediatricians, parents, and other relevant professionals of issues surrounding assessment of these dual-language learners. We examine the barriers to assessing bilingual children for language disorders, such as the lack of availability of bilingual tests, underinformative current best practice guidelines, lack of speech–language pathologist (SLP) training/knowledge of bilingualism, and use of interpreters. We discuss the necessary considerations when SLPs use norm-referenced tests with bilingual children, such as norming samples, accurate identification of a language disorder, reliability and validity, test administration, and potential solutions to using otherwise poorly suited norm-referenced tests. We also consider research on several alternative measures to norm-referenced assessments, including dynamic assessment, nonword repetition, language sampling, nonlinguistic cognition, and parent report. We conclude by synthesizing the information in this review to offer six principles of best practices for bilingual assessment.
言语病理学领域一个持续具有挑战性的问题是准确识别和诊断学龄(幼儿园前至五年级)双语儿童的语言障碍,因为双语儿童对语言障碍的识别不足和过度。目前的综述侧重于对幼儿园前至五年级的双语儿童的评估,旨在向教师、儿科医生、家长和其他相关专业人员告知有关评估这些双语学习者的问题。我们研究了评估双语儿童语言障碍的障碍,如缺乏双语测试、当前最佳实践指南信息不足、缺乏言语病理学家(SLP)的双语培训/知识以及口译员的使用。我们讨论了SLP对双语儿童使用规范参考测试时的必要考虑,如规范样本、语言障碍的准确识别、可靠性和有效性、测试管理,以及使用其他不适合的规范参考测试的潜在解决方案。我们还考虑了对规范参考评估的几种替代措施的研究,包括动态评估、非单词重复、语言抽样、非语言认知和家长报告。最后,我们综合了这篇综述中的信息,为双语评估提供了六条最佳实践原则。
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引用次数: 5
A Spiritual View to COVID-19 Pandemic 新冠肺炎疫情的精神视角
IF 0.3 Q4 Medicine Pub Date : 2022-01-01 DOI: 10.1055/s-0042-1758450
H. Çaksen
Any crisis (personal or collective) brings along an in-built stress. It cripples people from living a normal life; sometimes, it leads people to the extreme condition of permanent damage. The coronavirus disease 2019 (COVID-19) situation has brought in unexpected misery-victimizing millions of people.1 COVID-19 is leading to intense psychosocial issues and comprising mental health marking a secondary health concern all around the world.2 Millions of people from almost all cultures around the world have been affected by the COVID-19 crisis not only physical, mental, and psychosocial, but also psychospiritual. Althoughmuchmany studies including understanding of epidemiology, clinical features, mode of transmission, counteract the spread of the virus, and challenges of global health have been conducted since the onset of the COVID-19 pandemic, scarce studies have been reported about spiritual dimension of the disease in the literature. Herein, we present the effect of COVID-19 crisis on mental and spiritual health to draw attention to spiritual dimension of COVID-19 disease. COVID-19 can cause several significant neurological disorders and the pandemic has been linked to a rise in people reporting mental health problems, such as depression and anxiety. Neurocognitive symptoms associated with COVID19 include delirium, both acute and chronic attention and memory impairment related to hippocampal and cortical damage, as well as learning deficits in both adults and children.3 Marroquin et al4 found that stay-at-home order status and personal distancing were independently associated with higher symptoms including depression, generalized anxiety disorder, intrusive thoughts, insomnia, and acute stress, beyond protective effects of available social resources (social support and social network size). In our daily practice, we have also noted many psychosocial symptoms in some people during COVID-19 pandemic. Apart from medicine, one could become strengthened to face the situation. The psychological and spiritual solutions could be focused to face the COVID-19 crisis.1 Examination of the extant literature indicated that populations around the world rely often on support from their loved-ones, closed significant others, outdoor and physical activities, and spirituality to cope with the COVID-19-related distress. Increased sense of meaning/purpose since the COVID-19 pandemic was also reported.5 Current researches reveal the intimate link between health and spirituality. Among vulnerable populations, spirituality serves a critical purpose in a person’s wellbeing. One of themanyestablishedvalues of spirituality is that it helps people to deal with major life stressors. This has become more pronounced as the world grapples with the challenges brought by the COVID-19 pandemic.6Roberto et al7 found that the positive influence of spirituality on resilience, hope, optimism, peace, and comfort during the COVID-19 crisis. In another study, spirituality, knowledge, atti
任何危机(个人或集体)都会带来内在的压力。它使人们无法过上正常的生活;有时,它会导致人们陷入永久性损伤的极端状态。2019冠状病毒病(新冠肺炎)的形势给数百万人带来了意想不到的痛苦。1新冠肺炎正在导致严重的心理社会问题,包括心理健康,这是世界各地的第二健康问题。2来自世界各地几乎所有文化的数百万人受到新冠肺炎危机的影响,和心理社会,但也心理精神。尽管自新冠肺炎大流行开始以来,已经进行了大量研究,包括对流行病学、临床特征、传播模式、对抗病毒传播和全球健康挑战的了解,但文献中关于该疾病精神层面的研究很少。在此,我们介绍了新冠肺炎危机对心理和精神健康的影响,以引起人们对新冠肺炎疾病精神层面的关注。新冠肺炎会导致几种严重的神经系统疾病,这场大流行与报告抑郁症和焦虑症等心理健康问题的人数增加有关。与新冠肺炎相关的神经认知症状19包括谵妄、与海马和皮层损伤相关的急性和慢性注意力和记忆障碍,以及成人和儿童的学习缺陷。3 Marroquin等人4发现,居家令状态和个人距离与更高的症状独立相关,包括抑郁、,广泛性焦虑症、侵入性思维、失眠和急性压力,超出了可用社会资源(社会支持和社会网络规模)的保护作用。在我们的日常实践中,我们还注意到在新冠肺炎大流行期间,一些人出现了许多心理社会症状。除了医学之外,人们还可以变得更加坚强来面对这种情况。心理和精神上的解决方案可以集中在应对新冠肺炎危机上。1对现有文献的研究表明,世界各地的人口往往依靠亲人、封闭的重要他人、户外和体育活动以及精神来应对与新冠肺炎相关的痛苦。据报道,自新冠肺炎大流行以来,意义/目的感增强。5目前的研究揭示了健康与精神之间的密切联系。在弱势群体中,精神对一个人的健康起着至关重要的作用。许多公认的精神价值之一是它能帮助人们应对生活中的主要压力。随着世界应对新冠肺炎大流行带来的挑战,这一点变得更加明显。6 Roberto等人7发现,在新冠肺炎危机期间,精神对韧性、希望、乐观、和平和舒适的积极影响。在另一项研究中,精神、知识、态度和实践与普通人群对新冠肺炎的焦虑显著相关。8 Kasapoğlu 9报告称,在新冠肺炎爆发期间,当个人的精神性较强时,恢复力水平较高,对不确定性的容忍度增加,因此焦虑水平降低。在新冠肺炎大流行期间,我们还观察到精神对人们的心理、社会和心理健康的积极影响。精神性强的人经历的心理社会和心理健康问题较少。我们认为,新冠肺炎疫情是真主赋予人们的一场普遍灾难,任何人都无法逃脱并得到保护。这是神圣的警告、愤怒和折磨。它被上演成一个类似于压迫者在世界末日中会遇到的场景。《古兰经》说:“要害怕这条路,它不会特别影响(只影响)你们中那些做错的人:要知道真主在
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引用次数: 0
Wilson Disease-Induced Acute Liver Failure (NWI = 13) Salvaged without Liver Transplant by Plasmapheresis Wilson病引起的急性肝功能衰竭 = 13) 未经肝移植的血浆分离法抢救
IF 0.3 Q4 Medicine Pub Date : 2021-01-01 DOI: 10.1055/s-0041-1731079
Nida Mirza, R. Bharadwaj, Smita Malhotra, A. Sibal
Abstract Wilson disease (WD) is a disorder of copper metabolism resulting in accumulation of copper in vital organs of the human body, predominantly in the liver and the brain. Acute liver failure in WD has a bad prognosis, especially with a score ≥11 in the revised WD prognostic index; emergency liver transplantation is considered the only life-saving option in this scenario. Here, we reported a girl patient with WD-induced liver failure and poor prognostic score who was rescued by plasmapheresis. She also manifested severe Coombs negative hemolytic anemia and acute kidney injury. This case report highlights the utility of an adjunctive modality besides liver transplantation for the management of fulminant liver failure caused by WD.
摘要Wilson病(WD)是一种铜代谢紊乱,导致铜在人体重要器官(主要是肝脏和大脑)积聚。WD的急性肝功能衰竭预后不良,尤其是在修订的WD预后指数中得分≥11;在这种情况下,紧急肝移植被认为是唯一可以挽救生命的选择。在这里,我们报道了一名WD诱导的肝衰竭和预后评分差的女孩患者,她通过血浆置换术得到了挽救。她还表现出严重的库姆斯阴性溶血性贫血和急性肾损伤。本病例报告强调了除肝移植外的一种辅助方式在WD引起的暴发性肝衰竭治疗中的作用。
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引用次数: 0
Hemolytic Anemia and Hypoxic Brain Injury following Mothball Ingestion in a G6PD Nondeficient Infant: A Case Report 无G6PD缺陷婴儿误食樟脑后溶血性贫血和缺氧脑损伤1例报告
IF 0.3 Q4 Medicine Pub Date : 2021-01-01 DOI: 10.1055/s-0041-1736477
S. Nongrum, Anuragsingh Chandel, R. Varma, S. Jategaonkar, Manish Jain
Mothballs are a common household item used as repellents and deodorizers. They are potential hazards and rare agents of poisoning in children. They are composed mainly of naphthalene, camphor, and 1, 4-dichlorobenzene in varying amounts depending on the manufacturers. It is essential to rule out poisoning by naphthalene in children presenting with hemolysis by eliciting a proper history. Since mothballs are readily available at home, children are drawn to it because of its attractive color and its consumption is a likely possibility. This is a case of ingestional naphthalene poisoning in a 1-year-old glucose 6-phosphate dehydrogenase nondeficient male child who presented with altered sensorium and hemolytic anemia. The child developed methemoglobinemia and sustained hypoxic brain injury. He was successfully managed by oral ascorbic acid, blood transfusion, and requisite supportive treatments. We report a case of naphthalene toxicity with hemolytic anemia and hypoxic brain damage to highlight the possibility of naphthalene poisoning in young children presenting with hemolytic anemia.
樟脑丸是一种常见的家庭用品,用作驱虫剂和除臭剂。它们是儿童中毒的潜在危险和罕见因素。它们主要由萘、樟脑和1,4 -二氯苯组成,含量因制造商而异。有溶血症状的儿童有必要通过询问适当的病史来排除萘中毒。由于樟脑丸在家里很容易买到,孩子们被它吸引是因为它有吸引力的颜色,而且它很可能被吃掉。这是一例1岁的葡萄糖6-磷酸脱氢酶不缺乏的男孩,他表现为感觉改变和溶血性贫血。这名儿童出现了高铁血红蛋白血症和持续的缺氧脑损伤。通过口服抗坏血酸,输血和必要的支持治疗,他成功地控制了病情。我们报告一例萘中毒与溶血性贫血和缺氧脑损伤,以突出萘中毒的可能性,在年幼的儿童表现为溶血性贫血。
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引用次数: 0
A Comparative Study of Serum 25-Hydroxy Vitamin D Levels in Children with Seizures Receiving Monotherapy and Polytherapy 单一治疗与综合治疗对癫痫发作患儿血清25-羟基维生素D水平的影响
IF 0.3 Q4 Medicine Pub Date : 2021-01-01 DOI: 10.1055/s-0041-1740467
Nazeem Fathima A., Radha Kumar, D. V., D. Chaudhary
Abstract The association between serum 25-hydroxy vitamin D (25(OH)D) antiepileptic drugs (AEDs) and bone health in individuals with epilepsy has been recognized for more than 30 years. Several studies indicate an increased risk for bone loss in patients on antiepileptic medication as well as low levels of serum 25(OH)D. Patients on polytherapy AED are at a higher risk of adverse drug effects compared with those on monotherapy. The present study assessed serum 25(OH)D levels in children receiving AED and compares those children receiving monotherapy versus polytherapy. This is a prospective cross-sectional study conducted in a tertiary care hospital setting on children with seizures receiving AEDs for period of more than 6 months. Participants were enrolled in three groups: 25 children on monotherapy, 25 children on polytherapy, and 25 healthy controls. Serum 25(OH)D level was performed for all children and analyzed. Serum 25(OH)D levels were normal in 52%, insufficient levels in 43.3%, and deficient in 6.7% of children. Vitamin D level was insufficient in 40% of children receiving monotherapy and 52% receiving polytherapy AED. Vitamin D deficiency was present in 4% in monotherapy group and 16% in polytherapy group which was statistically significant (p-value 0.047). Vitamin D deficiency was higher in children receiving AED compared with normal controls. Vitamin D deficiency and insufficiency were higher in children on polytherapy. Our study emphasized the importance of monitoring vitamin D levels in children receiving AED to detect abnormalities in vitamin D levels.
癫痫患者血清25-羟基维生素D (25(OH)D)抗癫痫药物(aed)与骨骼健康之间的关系已经被认识了30多年。几项研究表明,服用抗癫痫药物以及血清25(OH)D水平低的患者骨质流失的风险增加。与单一治疗的患者相比,接受多种治疗的AED患者发生药物不良反应的风险更高。本研究评估了接受AED治疗的儿童血清25(OH)D水平,并比较了接受单一治疗和多种治疗的儿童。这是一项在三级医院进行的前瞻性横断面研究,研究对象是接受aed治疗超过6个月的癫痫发作儿童。参与者被分为三组:25名儿童接受单一治疗,25名儿童接受综合治疗,25名儿童接受健康对照。检测所有患儿血清25(OH)D水平并进行分析。52%的儿童血清25(OH)D水平正常,43.3%的儿童血清水平不足,6.7%的儿童血清水平不足。40%接受单一治疗的儿童维生素D水平不足,52%接受综合治疗的儿童维生素D水平不足。单一治疗组维生素D缺乏率为4%,综合治疗组为16%,差异有统计学意义(p值为0.047)。与正常对照组相比,接受体外除颤器治疗的儿童维生素D缺乏症更高。综合治疗组儿童维生素D缺乏症和不足发生率较高。我们的研究强调了在接受AED治疗的儿童中监测维生素D水平以检测维生素D水平异常的重要性。
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引用次数: 0
Contemporary Pattern of Pediatric Infective Endocarditis from Tertiary Care Centre of Northern India: A Single Centre Experience 印度北部三级护理中心儿童感染性心内膜炎的现代模式:单一中心的经验
IF 0.3 Q4 Medicine Pub Date : 2021-01-01 DOI: 10.1055/s-0041-1735881
Dinesh Kumar, S. Garg, D. Bhatt
Abstract With an increasing number of children with congenital heart disease (CHD) undergoing corrective treatments, improved pediatric intensive care, better antimicrobial treatments, and a relative decrease in rheumatic heart disease over the years, the epidemiology of pediatric infective endocarditis in India may be undergoing a change. The study was done in the department of pediatrics of a tertiary care teaching hospital of North India. A retrospective analysis of case records of children (<12 years) admitted with a diagnosis of infective endocarditis (IE) from January 2013 to April 2019 was performed. Modified Duke's criteria were used to diagnose IE. There were 21 children diagnosed with infective endocarditis during this period. The mean age at presentation was 70 months (range: 2.5–144 months). CHD (n = 13/21, 61.9%) was the most common predisposing condition. A total of 28% (6/21) patients had no preexisting structural heart disease. Nine percent (2/21) had rheumatic heart disease. Staphylococcus aureus was the most common etiological agent in those with a structurally normal heart. Most patients had blood culture–negative infective endocarditis (n = 12, 57.1%). Only one patient fulfilled Duke's major microbiological criteria. Six patients (28.57%) died during the hospital stay. Increasingly younger children are being diagnosed with infective endocarditis in India and a significant number of them are in the setting of a structurally normal heart. In view of high percentage of culture-negative endocarditis, the Duke criteria may need to be revised to retain their sensitivity in such settings.
随着越来越多的先天性心脏病(CHD)患儿接受矫正治疗,儿科重症监护的改善,更好的抗菌治疗,以及多年来风湿性心脏病的相对减少,印度儿童感染性心内膜炎的流行病学可能正在发生变化。这项研究是在北印度一家三级护理教学医院的儿科进行的。回顾性分析2013年1月至2019年4月诊断为感染性心内膜炎(IE)的儿童(12岁以下)病例记录。采用修改后的Duke标准诊断IE。在此期间有21名儿童被诊断为感染性心内膜炎。平均年龄为70个月(范围:2.5-144个月)。冠心病(n = 13/21, 61.9%)是最常见的易感因素。共有28%(6/21)的患者没有先前存在的结构性心脏病。9%(2/21)患有风湿性心脏病。在结构正常的心脏患者中,金黄色葡萄球菌是最常见的病因。大多数患者有血培养阴性的感染性心内膜炎(n = 12, 57.1%)。只有一名患者符合杜克大学的主要微生物标准。6例患者(28.57%)在住院期间死亡。在印度,越来越多年龄较小的儿童被诊断患有感染性心内膜炎,其中相当多的儿童心脏结构正常。鉴于培养阴性心内膜炎的高比例,杜克标准可能需要修改,以保持其在这种情况下的敏感性。
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引用次数: 1
A Dual Gender Rare Case with 47,XY, + 18/46,XX Karyotype: Chimera or Mosaic? 47,XY, + 18/46,XX染色体组型双性别罕见病例:嵌合体还是嵌合体?
IF 0.3 Q4 Medicine Pub Date : 2021-01-01 DOI: 10.1055/s-0040-1722275
R. Ankathil, Foong Eva, Z. A. Bakar, Nazihah Mohd Yunus, Nurul Alia Nawi, A. A. Annuar, Cheng Yi Ting, S. Sulong
Abstract Our objective is to report one rare case of dual gender chimerism involving abnormal male trisomy 18 and normal female karyotype. The baby was born full term with birth weight of 1.8 kg, not vigorous with light meconium stained liquor and Apgar score of 51, 85 and 910. Parents are 40 years old and mother is G6P5 + 1. The baby had clinical features of Edwards syndrome, and a blood sample was sent to Human Genome Centre, Universiti Sains Malaysia, Malaysia for cytogenetic analysis. Conventional cytogenetic analysis results showed two distinct sex discordant genetic cell lines XY and XX in 90:10 ratio. The male genetic cell line XY also showed trisomy 18 (47,XY, + 18) consistent with clinical diagnosis of male Edwards syndrome, whereas the second genetic cell line showed normal 46,XX female. The present case was reported as dual gender chimera with chi 47,XY, + 18/46,XX karyotype pattern. To the best of available knowledge, dual gender chimerism with abnormal male trisomy 18 and normal female karyotype has not been reported so far, and this case is reported for its rarity and as the first report.
摘要我们的目的是报告一例罕见的双性别嵌合,涉及异常男性18三体和正常女性核型。婴儿足月出生,出生体重1.8 kg,胎尿染色淡,不活泼,Apgar评分分别为51、85和910。父母40岁,母亲G6P5 + 1。婴儿有爱德华兹综合征的临床特征,血液样本被送到马来西亚理科大学人类基因组中心进行细胞遗传学分析。常规细胞遗传学分析结果显示,XY和XX两种遗传细胞系性别差异明显,比例为90:10。男性遗传细胞系XY也显示符合男性爱德华兹综合征临床诊断的18三体(47,XY, + 18),而第二遗传细胞系显示正常的46,XX女性。本病例为双性别嵌合体,核型为chi 47,XY, + 18/46,XX。就目前所知,男性18三体异常与女性核型正常的双性别嵌合尚未见报道,本病例罕见,为首例报道。
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引用次数: 0
Croup: A Rare Manifestation of Coronavirus Disease 2019 2019冠状病毒病的一种罕见表现
IF 0.3 Q4 Medicine Pub Date : 2021-01-01 DOI: 10.1055/s-0041-1725078
H. C. K. Kumar, K. Kumar, Shaarangdhar Nadagoud, Manjunath Vg
Abstract Croup is an acute inflammatory condition affecting upper airways and commonly seen in children with younger age group. Croup is most commonly due to acute viral infection and rarely because of bacterial and atypical agents. Here, we report a 3-month-old child who presented to us with classic signs and symptoms of croup and was also positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Child's mother also tested positive for SARS-CoV-2. SARS-CoV-2 infection presenting with stridor and croup is very rare and probably represents a new manifestation which should be considered in a young infant presenting with croup.
group是一种影响上呼吸道的急性炎症,常见于年龄较小的儿童。该组最常见的是由于急性病毒感染,很少是因为细菌和非典型病原体。在这里,我们报告了一个3个月大的婴儿,他向我们提出了典型的体征和症状,并且对严重急性呼吸综合征冠状病毒2 (SARS-CoV-2)也呈阳性。孩子的母亲也被检测出SARS-CoV-2阳性。SARS-CoV-2感染表现为喘鸣和组群是非常罕见的,可能代表了一种新的表现,应考虑在出现组群的年幼婴儿。
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引用次数: 1
期刊
Journal of Child Science
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