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Pediatric adrenal incidentaloma 儿童肾上腺偶发瘤
Q4 Medicine Pub Date : 2021-12-31 DOI: 10.37897/rjp.2021.4.4
M. Dumitrașcu, Alice Elena Ghenea, Mihaela Popescu, A. Dumitrașcu, M. Carsote, C. Mehedințu, F. Șandru
The term of “incidentaloma” involves multiple disciplines of the medicine, especially on the era of modern medicine with massive progress of investigations tools that increased the epidemiological implications of this entity. “Endocrine incidentaloma” represents a term mostly used for adrenals and pituitary glands (and less used for thyroid where it is replaced by the term of “thyroid nodule”). Adult adrenal incidentaloma (AAI) is expected to be found up to 5-20% of population depending on age group, co-morbidities, radiological/imaging method (the incidence increases with age), and not in children. We aim to overview the spectrum of pediatric AI (PAI) as an umbrella term for various histological and endocrine conditions. This is a brief narrative review of literature. Inclusion criteria are: PubMed published papers, in extenso articles (English language), the year of publication between 2016 and 2021; the selection is based on clinical relevance. A number of 70 references is included. PAI may be related to various tumors of the cortex and medulla, while AAI mostly means an adrenocortical adenoma with a very good prognostic. AAI diagnostic (based not only on radiological, but also an endocrine assessment) exceptionally underlines an adrenocortical carcinoma or evolves to a malignancy while in pediatric population the eventuality of an incidental adrenocortical carcinoma is not so rare (the non-functional pattern is more frequent in children than in adults). Neural crest-derived tumors may be located at adrenal levels; while ganglioneuroma is a benign tumor which typically respects the incidental detection, neuroblastoma is mostly aggressive and the clinical presentation suggestive for a malignancy is more frequent rather than a completely asymptomatic picture. 10-14% of pheochromocytomas are incidentally detected; however, the adrenalectomy is imperative, regardless the phenotype. PAI represents a large multidisciplinary field which is still a matter of debate in certain areas. The key message is the fact that accidental detection of an adrenal mass on an apparently healthy child needs careful examination; serial follow-up is less likely the elective approach (opposite to adult population) since adrenalectomy provides adequate histological report in order to sustain the endocrine and imaging workup.
“偶发瘤”一词涉及医学的多个学科,特别是在现代医学时代,随着调查工具的巨大进步,增加了这一实体的流行病学含义。“内分泌偶发瘤”一词主要用于肾上腺和垂体(较少用于甲状腺,用“甲状腺结节”一词代替)。成人肾上腺偶发瘤(AAI)预计可在5-20%的人群中发现,这取决于年龄组、合共病、放射学/影像学方法(发病率随年龄增长而增加),而在儿童中没有。我们的目标是概述儿科AI (PAI)的频谱作为各种组织学和内分泌条件的总称。这是一篇简短的文学述评。纳入标准为:PubMed已发表的论文,扩展文章(英语),出版年份在2016年至2021年之间;选择是基于临床相关性。其中包括70个参考文献。PAI可能与多种皮质、髓质肿瘤有关,而AAI多为肾上腺皮质腺瘤,预后良好。AAI诊断(不仅基于放射学,也基于内分泌评估)特别强调肾上腺皮质癌或发展为恶性肿瘤,而在儿童人群中偶发肾上腺皮质癌的可能性并不罕见(非功能性模式在儿童中比在成人中更常见)。神经嵴源性肿瘤可能位于肾上腺水平;神经节神经瘤是一种良性肿瘤,通常是偶然发现的,而神经母细胞瘤大多是侵袭性的,临床表现暗示恶性肿瘤更常见,而不是完全无症状。10-14%的嗜铬细胞瘤是偶然发现的;然而,肾上腺切除术是必要的,无论表型。PAI是一个大的多学科领域,在某些领域仍有争议。关键信息是,在一个表面健康的孩子身上意外发现肾上腺肿块需要仔细检查;由于肾上腺切除术提供了足够的组织学报告,以维持内分泌和影像学检查,因此系列随访不太可能是选择性的方法(与成人人群相反)。
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引用次数: 1
Successful percutaneous stenting of coarctation of the aorta in Turner syndrome – a case report and literature review 特纳综合征经皮主动脉狭窄支架置入术成功1例并文献复习
Q4 Medicine Pub Date : 2021-09-30 DOI: 10.37897/rjp.2021.3.6
D. Toma, Dorottya Miklósi, A. Sglimbea, L. Hadadi, M. Pop, Andreea Cerghit-Paler, Amalia Făgărășan, R. Togănel, L. Gozar
Turner syndrome (TS) is the most common chromosomal abnormality affecting females and cardiac abnormalities have been described in up to 50% of patients. Although coarctation represents one of the most frequent cardiac malformation, treatment options in these patients represent an area of debate, due to associated aortopathy and risk for aortic dissection. In addition to the contradictory data found in the literature, regarding the safety profile and utility of stenting of coarctation of the aorta in TS patients, we present the case of a patient of pediatric age, who successfully underwent the procedure, being free from periprocedural and short-term complications. Beside the presentation itself, we aimed to review and summarize the data available in the literature regarding this topic. As a conclusion, we emphasize the role of minimally invasive interventional therapy and wish to underline the need of further, larger scale studies and guidelines in this patient group. Given the related aortopathy, all preventive measures should be undertaken to avoid aortic dissection during stent implantation in this vulnerable population. Although the evolution of our patient was favorable, data found in the literature is somewhat contradictory and a close follow-up is indicated to help evaluate the risk of long-term complications.
特纳综合征(TS)是影响女性最常见的染色体异常,高达50%的患者有心脏异常。虽然缩窄是最常见的心脏畸形之一,但由于相关的主动脉病变和主动脉夹层的风险,这些患者的治疗方案一直存在争议。除了文献中发现的相互矛盾的数据外,关于TS患者主动脉缩窄支架置入的安全性和实用性,我们提出了一名儿童年龄的患者,他成功地接受了手术,没有围手术期和短期并发症。除了演示本身,我们的目的是回顾和总结关于这个主题的文献中可用的数据。综上所述,我们强调微创介入治疗的作用,并希望强调对这一患者群体进行进一步、更大规模的研究和指南的必要性。鉴于相关的主动脉病变,应采取一切预防措施,以避免在支架植入过程中主动脉夹层。虽然我们的患者的发展是有利的,但在文献中发现的数据有些矛盾,需要密切随访以帮助评估长期并发症的风险。
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引用次数: 0
Sindroame autoinflamatorii granulomatoase asociate cu NOD2 – o scurtă actualizare pentru clinicieni 与NOD2相关的肉芽肿性自身炎症综合征——临床医生的简要更新
Q4 Medicine Pub Date : 2021-09-30 DOI: 10.37897/rjp.2021.3.3
Laura Damian, Mihaela Spârchez, Mihaela Lupșe, Ioana Felea, Simona Rednic, Cristina Pamfil, Camelia Bucșa, Romana Vulturar
NOD2 (nucleotide-binding oligomerization domain-2), un receptor de recunoaștere a tiparelor moleculare, este implicat în apărarea imună înnăscută împotriva agenților patogeni, în integritatea mucoasei intestinale, compoziția microbiomului intestinal, autofagie, homeostazia imună și inflamație. Mutațiile NOD2 au fost asociate în primul rând cu boli ale copilului (sindromul Blau și sarcoidoza cu debut precoce, boala Crohn monogenică), dar și cu boli ale adultului (sindromul autoinflamator asociat NOD2 – NAID, denumit și sindrom Yao, etc.). S-au descris și forme intermediare între sindromul Blau și NAID. Sindromul Blau și sarcoidoza cu debut precoce sunt formele familială și, respectiv, sporadică ale unei boli rare autoinflamatorii monogenice, cu transmitere autozomal dominantă. Sindromul Blau debutează în copilăria mică, evoluând cu artrită granulomatoasă fără cazeificare, cu tenosinovită proeminentă, cu o erupție maculo-papulară sau ihtioziformă cu tentă bronzată, uveită și febră intermitentă. Pot să fie prezente și o febră periodică, limfadenopatie generalizată, precum și afectare viscerală granulomatoasă. Terapia constă din corticosteroizi, terapii imunosupresoare „de fond“ și eventual terapii biologice. La adulți, sindromul NAID sau Yao evoluează cu pusee de inflamație sistemică, cu tumefierea membrelor inferioare, tenosinovită și artrită neerozivă, febră și dermatită. Discutăm și diagnosticul diferențial cu alte boli rare granulomatoase. Creșterea informării privind aceste patologii rare autoinflamatorii, care pot să altereze calitatea vieții și să determine dizabilitate, este necesară cu scopul de a le ameliora prognosticul.
NOD2(核苷酸结合寡聚结构域-2)是一种分子模式识别受体,参与对病原体的先天免疫防御、肠粘膜完整性、肠道微生物组组成、自噬、免疫稳态和炎症。NOD2突变主要与儿童疾病(Blau综合征和早发性结节病、单基因克罗恩病)有关,也与成人疾病(NOD2-NAID相关的自身炎症综合征,也称为姚综合征等)有关。Blau综合征和早发性结节病是一种罕见的单基因自身炎症性疾病的家族性和散发性,常染色体显性遗传。布劳综合征始于儿童早期,发展为没有干酪化的肉芽肿性关节炎、突出的腱葡萄炎、带棕褐色的斑丘疹或鱼鳞状皮疹、葡萄膜炎和间歇性发烧。周期性发热、全身性淋巴结病以及肉芽肿性内脏损伤也可能存在。治疗包括皮质类固醇,背景免疫抑制疗法“以及可能的生物疗法。在成年人中,NAID或姚综合征会演变为全身炎症性脓疱、下肢肿胀、腱葡萄炎和非侵蚀性关节炎、发烧和皮炎。我们还讨论了与其他罕见肉芽肿性疾病的鉴别诊断。关于这些罕见的自身炎症病理的信息越来越多,这可能会改变生活质量并导致残疾,有必要改善其预后。
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引用次数: 1
Update in the prenatal management of sacrococcygeal teratomas and the outcome of the newborn – case report 骶尾骨畸胎瘤的产前处理及新生儿结局的最新进展-病例报告
Q4 Medicine Pub Date : 2021-09-30 DOI: 10.37897/rjp.2021.3.5
B. Mihai, R. Bohîlțea, Vlad Dima, A. Veduta, T. Salmen, T. Georgescu, M. Vlădăreanu, V. Varlas
Sacrococcygeal teratomas complicate approximatively 1 in 27,000 pregnancies, being the most common congenital germ cell tumors in infants. The diagnosis is suspected using ultrasonographic examination and confirmed after a pathology report is performed. The main issue complicating fetuses with sacrococcygeal teratomas is represented by the rapid growth and the great need of blood supply captured by the tumor that interferes with the fetal growth and fetal wellbeing, generating heart failure and, unfortunately, increasing neonatal mortality. Thus, ultrasonographic monitoring is fundamental, to diagnose, closely monitor the growth and vascularization of the tumor and to ameliorate the neonatal prognosis by establishing the proper time of birth. There are specialized healthcare centers that could perform in utero surgery with the aim to aid the normal growth and development of the fetus until term, when a curative surgery is performed to the newborn. In cases complicated with heart failure leading to fetal hydrops, pregnancy termination could be a valuable option for the mothers, as soon as the etiology and the stage of heart decompensation are known. We present a case of a fetal sacrococcygeal teratoma in a 36-year-old pregnant woman, an uninvestigated pregnancy that had a dreadful outcome with neonatal death.
骶尾骨畸胎瘤是婴儿中最常见的先天性生殖细胞肿瘤,其并发症发生率约为1 / 27000。诊断是怀疑使用超声检查和病理报告后进行确认。骶尾翼畸胎瘤胎儿的主要并发症是肿瘤的快速生长和对血液供应的巨大需求,这干扰了胎儿的生长和胎儿的健康,导致心力衰竭,不幸的是,增加了新生儿死亡率。因此,超声监测是诊断、密切监测肿瘤生长和血管形成的基础,通过确定适当的出生时间来改善新生儿预后。有专门的保健中心可以在子宫内进行手术,目的是帮助胎儿正常生长发育,直到足月,然后对新生儿进行治疗性手术。在合并心力衰竭导致胎儿水肿的情况下,一旦知道病因和心脏失代偿的阶段,终止妊娠对母亲来说可能是一个有价值的选择。我们提出一个病例胎儿骶尾蚴畸胎瘤在一个36岁的孕妇,一个未经调查的怀孕有一个可怕的新生儿死亡的结果。
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引用次数: 0
A rare but treatable inborn error of metabolism: Arginine glycine amidinotransferase (AGAT) deficiency 一种罕见但可治疗的先天性代谢错误:精氨酸-甘氨酸氨基转移酶(AGAT)缺乏
Q4 Medicine Pub Date : 2021-09-30 DOI: 10.37897/rjp.2021.3.4
S. Pintilie, A. Fodor, M. Bembea, C. Petcheși, Simona Grad, L. Damian, R. Vulturar
AGAT deficiency is a rare and treatable autosomal recessive disorder. The symptoms are early-onset developmental mild to moderate intellectual disability, delayed speech acquisition, behavioral problems or proximal muscle weakness. Biochemical screening for creatine, creatinine and urinary guanidinoacetate and genetic tests are used for diagnosis. Electromyography may be normal or may have a myopathic pattern with low amplitude polyphasic waves. Muscle biopsy may show abnormalities including small myocytes. Creatine supplementation can fully prevent the neurological disability, if the treatment is started early in life; the muscular function improves irrespective of the supplementation moment.
AGAT缺乏症是一种罕见且可治疗的常染色体隐性遗传疾病。症状为早发性发育轻度至中度智力残疾、言语习得延迟、行为问题或近端肌肉无力。肌酸、肌酸酐和尿胍醋酸盐的生化筛查和基因检测用于诊断。肌电图可以是正常的,或者可以具有具有低振幅多相波的肌病模式。肌肉活检可能显示异常,包括小肌细胞。如果在生命早期开始治疗,补充肌酸可以完全预防神经系统残疾;肌肉功能的改善与补充时刻无关。
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引用次数: 0
STRESS IN CHILDREN PATHOLOGY: FROM PSYCHOSOMATICS TO MOLECULAR BIOLOGY 儿童病理学中的压力:从身心学到分子生物学
Q4 Medicine Pub Date : 2021-06-30 DOI: 10.37897/rjp.2021.2.1
S. Buzinschi
During childhood, 3 levels of stress were proposed: positive, tolerable and toxic. The toxic stress produced by the strong, frequent and prolonged activation of the body’s response systems is a generator of behavioral and somatic sequelae. Child abuse is present in all social media in different countries. The absence of basic care has devastating effects on social and cognitive development, as found in institutionalized children. Attachment behavior and fear memory are considered stress-related biological systems. The response to stress is driven by the dynamics of cortisol secretion and its interaction with its cellular receptor. It plays a central role in the response to aggression through the process of methylation, decreased gene expression in the hippocampus and increased response to stress. Stress treatment is variable in efficiency and involves preventive measures (family and community), at school, bullying, psychological counseling, trauma-focused psychotherapy, cognitive therapy, through music.
在儿童时期,提出了三种压力水平:积极的、可忍受的和有毒的。身体反应系统的强烈、频繁和长期激活所产生的毒性应激是行为和身体后遗症的产生者。虐待儿童现象在不同国家的所有社交媒体上都有。缺乏基本护理对社会和认知发展产生了毁灭性的影响,这在被收容的儿童身上可以发现。依恋行为和恐惧记忆被认为是与压力相关的生物系统。对压力的反应是由皮质醇分泌的动力学及其与细胞受体的相互作用驱动的。它通过甲基化、海马体基因表达减少和对压力的反应增加,在对攻击的反应中发挥着核心作用。压力治疗的效率各不相同,包括预防措施(家庭和社区)、学校、欺凌、心理咨询、创伤心理治疗、认知治疗和音乐。
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引用次数: 0
GIANOTTI-CROSTI SYNDROME
Q4 Medicine Pub Date : 2021-06-30 DOI: 10.37897/rjp.2021.2.11
L. Ion, D. Boda, Mădălina-Otilia Purice, Irina-Elena Caracaș, S. Tudorache, M. Manta, A. Pavel, Roxana Andrei, Damaris Bozai, Raluca Gheorghiță, A. Popescu
We present a case of a 3 years and 8 months old female child with a generalized maculoerythematous rash associated with positive serologies for Epstein Barr virus, Echovirus and Coxsackie that raise suspicion of GianottiCrosti syndrome. The extremely low prevalence of this syndrome and the very long duration of the disease are highlighted, the rash can persist for up to 4 months. We discuss this case both in order to make health professionals aware of the existence of this rare condition, which should be considered in the differential diagnosis of a viral rash, and to educate the community (school, kindergarten) that tends to isolate affected children during persistence of the rash, which is considered contagious.
我们报告一例3岁零8个月大的女婴,患有广泛性斑疹性皮疹,并伴有爱泼斯坦巴尔病毒、埃可病毒和柯萨奇病毒的阳性血清学,引起对GianottiCrosti综合征的怀疑。该综合征的发病率极低,病程很长,皮疹可持续长达4个月。我们讨论这个病例,一方面是为了让卫生专业人员意识到这种罕见疾病的存在,在病毒性皮疹的鉴别诊断中应该考虑到这一点,另一方面是为了教育社区(学校、幼儿园)在皮疹持续存在期间倾向于隔离受影响的儿童,因为皮疹被认为是传染性的。
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引用次数: 0
DOWN SYNDROME – LONGITUDINAL STUDY OF CLINICAL EVOLUTION AND PSYCHO-SOCIAL IMPLICATIONS 唐综合征&临床演变和心理社会影响的纵向研究
Q4 Medicine Pub Date : 2021-06-30 DOI: 10.37897/rjp.2021.2.8
C. Petcheși, G. Ciavoi, F. Feier, O. Iuhas, K. Kozma, Claudia Jurca, M. Bembea
Introduction. Down syndrome is the most common chromosomal disorder, with a worldwide frequency of 1 case in 700 live births. Objectives. Starting from the hypothesis that with the increased life expectancy of the patients with Down syndrome, new phenotypic changes and new dysfunctions are expected to appear, we proposed a longitudinal study to analyze their evolution over a long period of time. Material and method. This is a longitudinal study, based on retrospective research and descriptive evaluation, performed on a group of 81 patients from the case series of the Bihor Regional Center for Medical Genetics from Oradea. Results. We have identified 4 types of evolutionary trends of the clinical signs: stationary, involutive, progressive and with late onset. Conclusions. Knowledge of the natural evolution of the signs and symptoms of the disease is indispensable in the long-term monitoring of patients with Down syndrome. The birth of a child with Down syndrome is a real drama for the family with a strong emotional impact that can be prevented or mitigated by facilitating prenatal diagnosis, psychological counselling, social support and specialized genetic advice.
介绍唐氏综合症是最常见的染色体疾病,全世界每700例活产中就有1例发生。目标。从唐氏综合征患者的预期寿命增加,预计会出现新的表型变化和新的功能障碍这一假设出发,我们提出了一项纵向研究来分析它们在很长一段时间内的演变。材料和方法。这是一项基于回顾性研究和描述性评估的纵向研究,对来自Oradea比霍尔地区医学遗传学中心病例系列的81名患者进行了研究。后果我们已经确定了4种类型的临床体征的进化趋势:静止、退化、进行性和迟发。结论。了解疾病体征和症状的自然演变对于唐氏综合征患者的长期监测是必不可少的。唐氏综合症患儿的出生对家庭来说是一场真正的戏剧,具有强烈的情感影响,可以通过促进产前诊断、心理咨询、社会支持和专门的基因咨询来预防或减轻这种影响。
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引用次数: 0
INNOVATIVE THERAPIES IN GENETIC DISEASES: SPINAL MUSCULAR ATROPHY 遗传性疾病的创新疗法:脊髓性肌萎缩症
Q4 Medicine Pub Date : 2021-06-30 DOI: 10.37897/rjp.2021.2.4
Elena-Silvia Shelby, A. Mirea
Spinal muscular atrophy is a congenital neuromuscular disease characterized by the deterioration of the motor neurons located mainly in the anterior horns of the spinal cord, leading to progressive muscle weakness and atrophy. Globally, SMA is, after cystic fibrosis, the second cause of death due to a a genetic disease in the pediatric population. Over 95% of the total cases of SMA are represented by 5q SMA, caused by biallelic mutations in the SMN1 gene (5q13.2), the rest of the SMA types being called, generically, non-5q SMA. Currently, a few genetic targeted therapies are available for 5q SMA, while other innovative therapies are still in clinical trials. Early diagnosis and treatment of 5q SMA have an essential role in preventing the onset and evolution of symptoms and can save the life of the patient and prevent debilitating sequelae. This article aims to briefly describe the cause and symptomatology of 5q SMA as well as to make a short review of the genetic therapies available for this disease.
脊髓性肌萎缩症是一种先天性神经肌肉疾病,其特征是主要位于脊髓前角的运动神经元退化,导致进行性肌肉无力和萎缩。在全球范围内,SMA是继囊性纤维化之后,儿童遗传疾病导致的第二大死亡原因。超过95%的SMA病例以5q SMA为代表,由SMN1基因(5q13.2)的双等位基因突变引起,其余的SMA类型通常被称为非5q SMA。目前,针对5q SMA的基因靶向治疗方法很少,而其他创新疗法仍处于临床试验阶段。5q SMA的早期诊断和治疗对于预防症状的发生和发展具有重要作用,可以挽救患者的生命并防止使人衰弱的后遗症。本文旨在简要介绍5q SMA的病因和症状,并对该病的遗传治疗方法进行简要回顾。
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引用次数: 1
SOME CHARACTERISTICS OF ENTREPRENEURSHIP IN MEDICINE. THE DIGITALIZATION OF THE MEDICAL SYSTEM IN ROMANIA 医学创业的一些特点。罗马尼亚医疗系统的数字化
Q4 Medicine Pub Date : 2021-06-30 DOI: 10.37897/rjp.2021.2.2
Irina Dijmărescu, B. Pharmacy
Entrepreneurship and medicine are in continuous growth alongside, and even if they appear to be completely different fields, entrepreneurship in medicine is becoming of remarkable interest, further highlighted by the COVID-19 pandemic. A main reason for this is its ability to use digital technologies, which are meant to improve healthcare. Applying digitalization in healthcare includes not only computer and database use (cloud computing, big data), but more complex methods such as robotics, automation, internet of things, artificial intelligence and, not lastly, collaboration platforms. Some shortcomings in respect to digitalization can be identified in the Romanian healthcare system and these may impact public health. Digitalization may contribute fundamentally to the improvement of public health by increasing performance. However, in the context of the COVID-19 pandemic, other ailments that burden the healthcare system should not be neglected (cardiovascular diseases, malignancies, etc.).
创业和医学正在持续增长,即使它们看起来是完全不同的领域,医学创业也越来越引起人们的兴趣,新冠肺炎疫情进一步突出了这一点。其中一个主要原因是它能够使用旨在改善医疗保健的数字技术。将数字化应用于医疗保健不仅包括计算机和数据库的使用(云计算、大数据),还包括更复杂的方法,如机器人、自动化、物联网、人工智能,最后还有协作平台。罗马尼亚医疗系统在数字化方面存在一些缺陷,这些缺陷可能会影响公共卫生。数字化可能通过提高绩效从根本上有助于改善公共卫生。然而,在新冠肺炎大流行的背景下,不应忽视给医疗系统带来负担的其他疾病(心血管疾病、恶性肿瘤等)。
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引用次数: 1
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Revista Romana de Pediatrie
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