Paediatria Croatica最新文献_第5页

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

Paediatria Croatica 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

{"title":"Neurological symptoms in Schimke immuno-osseous dysplasia in a 11-year-old girl: a case report","authors":"Andrzej Badeński, Marta Badeńska, E. Trembecka-Dubel, Ewa Grzywna-Rozenek, E. Kluczewska, M. Szczepańska","doi":"10.13112/pc.2021.34","DOIUrl":"https://doi.org/10.13112/pc.2021.34","url":null,"abstract":"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.","PeriodicalId":49715,"journal":{"name":"Paediatria Croatica","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41556757","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: 1

Promoting cross-sectoral cooperation in the early intervention model 推动早期干预模式的跨部门合作

Paediatria Croatica Pub Date : 2021-12-27 DOI: 10.13112/pc.2021.30

Tena Matijaš, D. Bulić

{"title":"Promoting cross-sectoral cooperation in the early intervention model","authors":"Tena Matijaš, D. Bulić","doi":"10.13112/pc.2021.30","DOIUrl":"https://doi.org/10.13112/pc.2021.30","url":null,"abstract":"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.","PeriodicalId":49715,"journal":{"name":"Paediatria Croatica","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47368835","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

Adolescents and gambling 青少年与赌博

Paediatria Croatica Pub Date : 2021-06-25 DOI: 10.13112/pc.2021.13

Martina Jerković, Blaženka Kljaić Bukvić

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

Paediatria Croatica Pub Date : 2021-06-25 DOI: 10.13112/pc.2021.11

V. Tomac, S. Puseljic, Martina Kos, S. Dorner, Romana Pavišić Kezan, J. Wagner

{"title":"Epidemiological, cytogenetic and clinical characteristics of children with Down syndrome in eastern Croatia – fifteen-year postnatal experience","authors":"V. Tomac, S. Puseljic, Martina Kos, S. Dorner, Romana Pavišić Kezan, J. Wagner","doi":"10.13112/pc.2021.11","DOIUrl":"https://doi.org/10.13112/pc.2021.11","url":null,"abstract":"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.","PeriodicalId":49715,"journal":{"name":"Paediatria Croatica","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46442537","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

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

Paediatria Croatica Pub Date : 2021-06-25 DOI: 10.13112/pc.2021.15

T. Velki, Ksenija Romstein

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

Paediatria Croatica Pub Date : 2021-06-25 DOI: 10.13112/pc.2021.16

J. Louro, B. Teixeira, E. Santos Silva

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

Paediatria Croatica Pub Date : 2021-06-25 DOI: 10.13112/pc.2021.14

Marina Stilinović, I. Sabolić, D. Papeš, M. Pasini, Dora Škrljak-Šoša, T. Luetić

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

Paediatria Croatica Pub Date : 2021-06-25 DOI: 10.13112/pc.2021.10

T. Kehler, T. Kezele, Ariana Fužinac-Smojver, Tamara Kauzlarić-Živković

{"title":"Association of vitamin D insufficiency and low physical activity with fatigue, headaches and psychological distress in college students, North-Mediterranean Croatia – a pilot study","authors":"T. Kehler, T. Kezele, Ariana Fužinac-Smojver, Tamara Kauzlarić-Živković","doi":"10.13112/pc.2021.10","DOIUrl":"https://doi.org/10.13112/pc.2021.10","url":null,"abstract":"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).","PeriodicalId":49715,"journal":{"name":"Paediatria Croatica","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44014353","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

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

Paediatria Croatica Pub Date : 2021-06-25 DOI: 10.13112/pc.2021.9

O. Boyarchuk

{"title":"The correlation between cytokine concentrations and IgG/IgM antibodies to viruses of the Herpesviridae family in children with rheumatic heart disease","authors":"O. Boyarchuk","doi":"10.13112/pc.2021.9","DOIUrl":"https://doi.org/10.13112/pc.2021.9","url":null,"abstract":"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.","PeriodicalId":49715,"journal":{"name":"Paediatria Croatica","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66774536","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

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

Paediatria Croatica 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

引用次数: 0