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Neurological symptoms in Schimke immuno-osseous dysplasia in a 11-year-old girl: a case report 11岁女孩Schimke免疫-骨发育不良的神经症状:1例报告
Q4 Medicine Pub Date : 2021-12-27 DOI: 10.13112/pc.2021.34
Andrzej Badeński, Marta Badeńska, E. Trembecka-Dubel, Ewa Grzywna-Rozenek, E. Kluczewska, M. Szczepańska
Background: Schimke immuno-osseous dysplasia (SIOD, OMIM 242900) is a rare, autosomal recessive, pleiotropic disease caused by mutations in the SMARCAL1 gene. SIOD is characterized by a triad of symptoms, i.e., progressive kidney disease due to focal segmen- tal glomerulosclerosis (FSGS), spondyloepiphyseal dysplasia and T-cell immunodeficiency. Additionally, heterogeneous neurological symptoms are often observed in the course of the syndrome. Case: The authors describe the case of a 14-year-old girl with SIOD, who presented with recurrent neurological symptoms, such as migraine-like headaches, diplopia and seizures. She was born at 34 weeks of pregnancy with hypotrophy (1280 g) and short stature (44 cm). Nephrotic-range proteinuria, the first symptom of the disease, was detected at the age of 4 and a half years. Significant immunodeficiency was also observed. She was finally diagnosed with Schimke immuno-osseous dysplasia on account of two pat- hogenic variants, c.836T>C (p.F279S) and c.2542G>T (p.E848X) identified in the SMARCAL1 gene. Conclusions: This report describes the clinical features and neuroimaging findings of a patient with SIOD. It also presents a possible correlation between neurological events and the Schimke disease, which should be considered during the diagnostic process.
背景:Schimke免疫-骨发育不良(SIOD, OMIM 242900)是一种罕见的常染色体隐性多益性疾病,由SMARCAL1基因突变引起。SIOD的特征是三种症状,即由局灶节段性肾小球硬化(FSGS)引起的进行性肾脏疾病、脊柱骨骺发育不良和t细胞免疫缺陷。此外,在该综合征的病程中经常观察到异质神经症状。病例:作者描述了一个14岁的SIOD女孩的病例,她表现出复发性神经系统症状,如偏头痛样头痛,复视和癫痫发作。她在怀孕34周时出生,体重不足(1280克),身材矮小(44厘米)。肾脏范围蛋白尿是该病的第一个症状,在4岁半时被发现。还观察到明显的免疫缺陷。由于在SMARCAL1基因中发现了C . 836t >C (p.F279S)和C . 2542g >T (p.E848X)两个部分基因变异,最终诊断为Schimke免疫-骨发育不良。结论:本报告描述了一例SIOD患者的临床特征和神经影像学表现。它还提出了神经事件与Schimke病之间可能的相关性,这在诊断过程中应予以考虑。
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引用次数: 1
Promoting cross-sectoral cooperation in the early intervention model 推动早期干预模式的跨部门合作
Q4 Medicine Pub Date : 2021-12-27 DOI: 10.13112/pc.2021.30
Tena Matijaš, D. Bulić
Cross-sectoral cooperation is a complex process involving different systems with their complexities and separate protocols through partnership, sharing responsibilities and benefits. In the developmental system model of early intervention, cross-sectoral coopera- tion implies the connection between the health care system, social welfare and the educational system. In the Republic of Croatia, this type of cooperation has not come to life at the level that would be necessary for the entire system to function adequately. This is why families of children with neurodevelopmental risk and developmental difficulties are often left to fend for themselves and seek support and therapy. Objective: The aim of this paper is to present a model of connecting the health institution, the paediatrician of the health center and the experts of the social care institution that provides early intervention services (EI), and to examine whether this cooperation ac- celerates family involvement in EI support and services. Methods: The collaboration was conducted through secure virtual communication, with paediatricians directing families of chil- dren with a certain deviation from typical development to a social institution, the EI provider, where experts conducted triage by team development assessment. Results: 27 children and their families were included and it was shown that the mentioned cooperation led to the acceleration of obtaining support for the family in an average of 72 days. It also turned out that there was an indirect acceleration of administrative procedures in exercising the right to EI service in 13 days. Conclusion: The results show a positive effect of cross-sectoral cooperation and networking through a system of information ex- change through secured technologies.
跨部门合作是一个复杂的过程,通过伙伴关系、分担责任和利益,涉及具有复杂性的不同系统和单独的协议。在早期干预的发展系统模型中,跨部门合作意味着卫生保健系统、社会福利和教育系统之间的联系。在克罗地亚共和国,这种类型的合作还没有达到整个系统充分运作所必需的水平。这就是为什么有神经发育风险和发育困难儿童的家庭往往要自己照顾自己,寻求支持和治疗。目的:本文的目的是提出一种连接卫生机构、卫生中心的儿科医生和提供早期干预服务的社会护理机构专家的模式,并研究这种合作是否促进了家庭参与早期干预支持和服务。方法:合作是通过安全的虚拟通信进行的,儿科医生将有一定偏离典型发展的儿童的家庭引导到社会机构,即EI提供者,由专家通过团队发展评估进行分类。结果:共纳入27名儿童及其家庭,结果表明,上述合作导致家庭获得支持的速度加快,平均为72天。此外,在13天内,行政程序亦有间接加快。结论:研究结果表明,通过安全技术的信息交换系统,跨部门合作和网络化具有积极作用。
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引用次数: 0
Adolescents and gambling 青少年与赌博
Q4 Medicine Pub Date : 2021-06-25 DOI: 10.13112/pc.2021.13
Martina Jerković, Blaženka Kljaić Bukvić
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引用次数: 0
Epidemiological, cytogenetic and clinical characteristics of children with Down syndrome in eastern Croatia – fifteen-year postnatal experience 克罗地亚东部唐氏综合征儿童的流行病学、细胞遗传学和临床特征——15年产后经验
Q4 Medicine Pub Date : 2021-06-25 DOI: 10.13112/pc.2021.11
V. Tomac, S. Puseljic, Martina Kos, S. Dorner, Romana Pavišić Kezan, J. Wagner
This study presents a retrospective data analysis of 101 postnatally detected cases of Down syndrome, routinely diagnosed among 1879 postnatal investigations performed during a 15-year period (2005-2020) at a single tertiary centre. All patients with features of Down syndrome were examined at the Department of Paediatrics, Osijek University Hospital Centre. Karyotyping was performed at the Laboratory of Medical Genetics, Faculty of Medicine in Osijek. Among 101 Down syndrome patients, 55% patients were male and 45% were female patients. Trisomy 21 as the most common karyotype was found in 95%, Robertsonian translocation in 4% and mosaic form in 1% of Down syndrome patients. The average age of the mothers was 33 years. Congenital heart defects were present in 38/89 (42.7%) patients. There was no marked decrease in the prevalence of live birth Down syndrome in eastern Croatia over the 15-year period. The usage of prenatal diagnosis was low, so women’s, as well as physicians’ knowledge and attitudes towards the prenatal diagnosis of Down syndrome should be evaluated.
本研究对101例出生后检测到的唐氏综合症病例进行了回顾性数据分析,这些病例是在一个三级中心进行的15年(2005-2020年)的1879项产后调查中常规诊断的。所有具有唐氏综合症特征的患者都在奥西耶克大学医院中心的儿科接受了检查。在奥西耶克医学院医学遗传学实验室进行了核型分析。在101名唐氏综合症患者中,55%为男性,45%为女性。唐氏综合征患者中,最常见的染色体组型为21三体,占95%,罗伯逊易位占4%,镶嵌型占1%。这些母亲的平均年龄为33岁。38例(42.7%)患者存在先天性心脏缺陷。克罗地亚东部活产唐氏综合症的患病率在15年期间没有显著下降。产前诊断的使用率很低,因此应该评估女性以及医生对唐氏综合症产前诊断的知识和态度。
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引用次数: 0
Validation and standardisation of the Croatian version of ASQ-3 for children aged 3 to 5 years 3至5岁儿童克罗地亚版ASQ-3的验证和标准化
Q4 Medicine Pub Date : 2021-06-25 DOI: 10.13112/pc.2021.15
T. Velki, Ksenija Romstein
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引用次数: 0
Septic thrombophlebitis of the portal vein – a case report 门静脉化脓性血栓性静脉炎1例
Q4 Medicine Pub Date : 2021-06-25 DOI: 10.13112/pc.2021.16
J. Louro, B. Teixeira, E. Santos Silva
Septic thrombophlebitis of the portal venous system, also known as pylephlebitis, is a rare clinical condition with nonspecific clinical presentation, in which imaging has a crucial role in its prompt diagnosis. We report a case of a 13-year-old male who presented with fever, jaundice and hepatomegaly. Ultrasound and computed tomography revealed portal vein thrombosis, hepatomegaly, splenomegaly, and mild ascites. No primary focus of infection, underlying thrombophilia or malignancy was identified, and broad-spec-trum antibiotic therapy and anticoagulation were initiated, resulting in clinical improvement and partial recanalization of the portal vein. Clinical and imaging follow-up should be maintained to exclude the development of portal hypertension.
门静脉系统脓毒性血栓性静脉炎,又称门静脉炎,是一种罕见的临床疾病,临床表现不明确,影像学对其及时诊断具有至关重要的作用。我们报告一例13岁的男性谁提出发烧,黄疸和肝肿大。超声及电脑断层显示门静脉血栓、肝肿大、脾肿大及轻度腹水。没有发现感染的主要病灶,潜在的血栓形成或恶性肿瘤,并开始广谱抗生素治疗和抗凝治疗,导致临床改善和部分门静脉再通。应保持临床和影像学随访,以排除门静脉高压症的发展。
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引用次数: 0
Patient- and family-centred care – satisfaction with care as an indicator of health care quality 以患者和家庭为中心的护理——将护理满意度作为医疗保健质量的指标
Q4 Medicine Pub Date : 2021-06-25 DOI: 10.13112/pc.2021.14
Marina Stilinović, I. Sabolić, D. Papeš, M. Pasini, Dora Škrljak-Šoša, T. Luetić
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引用次数: 0
Association of vitamin D insufficiency and low physical activity with fatigue, headaches and psychological distress in college students, North-Mediterranean Croatia – a pilot study 克罗地亚北地中海地区的一项初步研究表明,大学生维生素D不足和体力活动不足与疲劳、头痛和心理困扰之间的关系
Q4 Medicine Pub Date : 2021-06-25 DOI: 10.13112/pc.2021.10
T. Kehler, T. Kezele, Ariana Fužinac-Smojver, Tamara Kauzlarić-Živković
The aim of the study was to investigate serum vitamin D level in undergraduate students of health studies and its relationship with the frequency of vitamin D rich food consumption, sun exposure, study-related fatigue, headache and psychopathological status, and the relationship of the latter three parameters with the type of physical activity. A blood level of 25-hydroxyvitamin D (25(OH)D), Migraine Disability Assessment (MIDAS), Pediatric Quality of Life Inventory Multidimensional Fatigue Scale, Clinical Outcomes in Routine Evaluation-Outcome Measure (CORE-OM), nutrition and physical activity were surveyed in randomly chosen students. Study results showed that 49% of students had 25(OH)D insufficiency/deficiency. The MIDAS values were higher in the insufficient/ deficient group (p=0.035) and were associated with hours of weekly cardio exercises (r=-0.48, p=0.031). CORE-OM and total fatigue correlated with 25(OH)D (r=-0.59, p=0.024; r=0.51, p=0.023). Students with sufficient 25(OH)D had a significantly higher vitamin D intake by consuming sardines in their monthly nutrition (p=0.048). 25(OH)D correlated with the amount of monthly consumed sardines (r=0.59, p=0.006) in general. Our results provide initial evidence that an appropriate lifestyle along with proper physical activity, especially cardio exercise, and vitamin D rich nutrition is important to reduce fatigue, headaches and psychological distress. our study is that all these studies analysed vitamin D status in groups of adolescents (12-18 years).
摘要本研究旨在探讨健康专业本科学生血清维生素D水平与摄入富含维生素D的食物频率、日晒、学习疲劳、头痛和精神病理状态的关系,以及后三项参数与体育活动类型的关系。随机抽取学生进行25-羟基维生素D (25(OH)D)血药浓度、偏头痛残疾评估(MIDAS)、儿童生活质量量表多维疲劳量表、常规评估-结果测量临床结果(CORE-OM)、营养和身体活动的调查。研究结果显示,49%的学生有25(OH)D不足/缺乏。MIDAS值在缺乏/缺乏组较高(p=0.035),并且与每周有氧运动小时数相关(r=-0.48, p=0.031)。CORE-OM和总疲劳与25(OH)D相关(r=-0.59, p=0.024;r = 0.51, p = 0.023)。25(OH)D充足的学生在每月营养摄入沙丁鱼后,维生素D摄入量显著增加(p=0.048)。总体而言,25(OH)D与每月沙丁鱼食用量相关(r=0.59, p=0.006)。我们的研究结果提供了初步证据,表明适当的生活方式,适当的体育锻炼,尤其是有氧运动,以及富含维生素D的营养对减少疲劳、头痛和心理困扰很重要。我们的研究是,所有这些研究都分析了青少年群体(12-18岁)的维生素D状况。
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引用次数: 0
The correlation between cytokine concentrations and IgG/IgM antibodies to viruses of the Herpesviridae family in children with rheumatic heart disease 风湿性心脏病患儿细胞因子浓度与疱疹病毒科病毒IgG/IgM抗体的相关性
Q4 Medicine Pub Date : 2021-06-25 DOI: 10.13112/pc.2021.9
O. Boyarchuk
Acute rheumatic fever (ARF) and rheumatic heart disease (RHD) are still urgent medical issues in developing countries and in some communities of high-income countries. The aim of our study was to evaluate plasma cytokine concentrations in children with RHD and their correlation with antibody concentrations to viruses of the Herpesviridae family. Sixty-two patients with RHD aged 8 to 17 years were included in the study. The concentrations of TNF-α, IL-4, IL-8, IL-10 and IFN-γ were evaluated; IgG and IgM antibodies to cytomegalovirus (CMV), herpes simplex virus (HSV) groups I-II and Epstein-Barr virus (EBV) in serum were determined by ELISA meth-od. A significant increase of cytokine concentrations (TNF-α, IL-8, IL-4 and IL-10) was recorded in RHD patients. Antibodies to intracel-lular Herpesviridae family viruses were detected in all children with RHD. Children with RHD were significantly more likely to have IgG HSV I-II antibodies, and IgG and IgM EBV antibodies compared to controls (p<0.05). The concentration of IgM antibody to CMV showed positive correlation with TNF-α; the concentration of IgG antibody to EBV showed negative correlation with TNF-α; and the concentration of IgG and IgM antibodies to EBV showed positive correlation with IL-10 levels. Considering positive correlation of IL-10 concentration with IgG and IgM antibody concentrations to EBV, and the significance of IL-10 in the progression of RHD, the possible predisposing role of EBV in the progression of RHD can be postulated, which needs further study.
急性风湿热(ARF)和风湿性心脏病(RHD)在发展中国家和高收入国家的一些社区仍然是紧迫的医疗问题。本研究的目的是评估RHD患儿血浆细胞因子浓度及其与疱疹病毒科病毒抗体浓度的相关性。研究纳入了62名年龄在8至17岁之间的RHD患者。检测TNF-α、IL-4、IL-8、IL-10、IFN-γ的浓度;采用ELISA法检测血清巨细胞病毒(CMV)、单纯疱疹病毒(HSV) I-II型和eb病毒(EBV) IgG和IgM抗体。RHD患者细胞因子浓度(TNF-α、IL-8、IL-4和IL-10)显著升高。所有RHD患儿均检测到细胞内疱疹病毒科病毒抗体。与对照组相比,RHD患儿有IgG HSV I-II抗体、IgG和IgM EBV抗体的可能性显著增加(p<0.05)。CMV IgM抗体浓度与TNF-α呈正相关;EBV抗体IgG浓度与TNF-α呈负相关;EBV IgG和IgM抗体浓度与IL-10水平呈正相关。考虑到IL-10浓度与EBV抗体IgG和IgM抗体浓度呈正相关,以及IL-10在RHD进展中的意义,可以推测EBV在RHD进展中的可能易感作用,有待进一步研究。
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引用次数: 0
Hereditary fructose intolerance – two case reports and literature review 遗传性果糖不耐受2例报告及文献复习
Q4 Medicine Pub Date : 2021-03-17 DOI: 10.13112/PC.2021.6
K. Paponja, Valentina Rahelić, Nikola Mesarić, T. Žigman, Ana Škaričić, Iva Bilandžija-Kuš, E. Pavić, I. Senečić-čala, M. Peršić, J. Vuković, I. Barić, D. Ramadža
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引用次数: 0
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Paediatria Croatica
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