Pub Date : 2023-01-01DOI: 10.5114/polp.2023.125063
Marta Serafin, E. Czerwińska, Marian Koźbiał, M. Leszczyński, L. Szenborn
{"title":"Fatal Waterhouse-Friderichsen syndrome due to Neisseria\u0000meningitidis group B in a paediatric patient during\u0000the phone consultation era","authors":"Marta Serafin, E. Czerwińska, Marian Koźbiał, M. Leszczyński, L. Szenborn","doi":"10.5114/polp.2023.125063","DOIUrl":"https://doi.org/10.5114/polp.2023.125063","url":null,"abstract":"","PeriodicalId":39653,"journal":{"name":"Pediatria Polska","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70500587","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}
Pub Date : 2023-01-01DOI: 10.5114/polp.2023.128063
V. Dytiatkovskyi, O. Abaturov, V. Dosenko, T. Drevytska, T. Lapikova-Bryhinska, Nataliya Naumenko, O. Alifirenko
Introduction: This paper reports the study of a combined genetic and biomarker panel for assessing the risk of development of different phenotypes of atopic dermatitis (AD) in children: alone and combined with other atopic disorders (AtD) – allergic rhinitis/rhino-conjunctivitis (AR/ARC) and bronchial asthma (BA). The aim was to establish a personalized diagnostic multi-marker panel for assessing the developmental risk of different AD phenotypes in children combining single nucleotide polymorphism (SNP) rs_7927894 filaggrin (FLG) genotype variants, serum levels of total immune globulin E (IgE), cutaneous T-cell attracting chemokine (CTACK/CCL27) and thymus and activation regulated chemokine (TARC/CCL17). Material and methods: The study recruited patients aged 3–18 years old: 39 atopic patients to the main group and 47 non-atopic patients to the control group. All the patients were tested for SNP variants of rs_7927894 FLG and serum concentrations of total IgE, CTACK/CCL27 and TARC/CCL17. Results: Within AD alone phenotype patients we detected the following significant risk ratios: cytosinethymine (C/T) rs_7927894 FLG [odds ratio (OR) = 4.14, p < 0.05], total IgE > 173 IU/ml (OR = 8.98, p < 0.001), CTACK/ CCL27 > 3658.5 pg/ml (OR = 5.64, p < 0.01). Atopic disorders combined with other AtD phenotype: C/T rs_7927894 FLG (OR = 2.88, p < 0.05), total IgE > 213 IU/ml (OR = 136.7, p < 0.001), CTACK/CCL27 > 4308.8 pg/ml (OR = 7.40, p < 0.001). With AD combined with other AtD collated to AD alone – total IgE > 1001 IU/ml (OR = 16.0, p < 0.001). TARC/CCL17 had no significant differences among main and control groups. Conclusions: Cytosinethymine rs_7927894 FLG variant combined with cut-off serum IgE and CTACK/ CCL27 levels is a novel significant personalized multi-marker panel for assessing the risk of development of the different AD phenotypes in children.
本文报道了一项联合遗传和生物标志物小组的研究，用于评估儿童特应性皮炎(AD)不同表型的发展风险:单独或合并其他特应性疾病(AtD) -变应性鼻炎/鼻结膜炎(AR/ARC)和支气管哮喘(BA)。目的是结合单核苷酸多态性(SNP) rs_7927894聚丝蛋白(FLG)基因型变异、血清总免疫球蛋白E (IgE)、皮肤t细胞吸引趋化因子(CTACK/CCL27)和胸腺及激活调节趋化因子(TARC/CCL17)水平，建立一个个性化的多标记诊断面板，以评估不同AD表型儿童的发育风险。材料与方法:本研究招募年龄在3-18岁的患者，其中特应性患者39例为主要组，非特应性患者47例为对照组。所有患者均检测rs_7927894 FLG SNP变异和血清总IgE、CTACK/CCL27和TARC/CCL17浓度。结果:在AD单独表型患者中，我们检测到以下显著风险比:胞嘧啶胸腺嘧啶(C/T) rs_7927894 FLG[比值比(OR) = 4.14, p < 0.05]，总IgE > 173 IU/ml (OR = 8.98, p < 0.001)， CTACK/ ccl27> 3658.5 pg/ml (OR = 5.64, p < 0.01)。特应性疾病合并其他AtD表型:C/T rs_7927894 FLG (OR = 2.88, p < 0.05)，总IgE > 213 IU/ml (OR = 136.7, p < 0.001)， CTACK/CCL27 > 4308.8 pg/ml (OR = 7.40, p < 0.001)。当AD合并其他AtD时，总IgE为10101iu /ml (OR = 16.0, p < 0.001)。TARC/CCL17在主要组和对照组之间无显著差异。结论:胞嘧啶胸腺嘧啶rs_7927894 FLG变异结合血清IgE和CTACK/ CCL27水平是评估儿童不同AD表型发展风险的一种新的、有意义的个性化多标记指标。
{"title":"Personalized multi-marker panel in the risk assessment of atopic dermatitis phenotypes in children","authors":"V. Dytiatkovskyi, O. Abaturov, V. Dosenko, T. Drevytska, T. Lapikova-Bryhinska, Nataliya Naumenko, O. Alifirenko","doi":"10.5114/polp.2023.128063","DOIUrl":"https://doi.org/10.5114/polp.2023.128063","url":null,"abstract":"Introduction: This paper reports the study of a combined genetic and biomarker panel for assessing the risk of development of different phenotypes of atopic dermatitis (AD) in children: alone and combined with other atopic disorders (AtD) – allergic rhinitis/rhino-conjunctivitis (AR/ARC) and bronchial asthma (BA). The aim was to establish a personalized diagnostic multi-marker panel for assessing the developmental risk of different AD phenotypes in children combining single nucleotide polymorphism (SNP) rs_7927894 filaggrin (FLG) genotype variants, serum levels of total immune globulin E (IgE), cutaneous T-cell attracting chemokine (CTACK/CCL27) and thymus and activation regulated chemokine (TARC/CCL17). Material and methods: The study recruited patients aged 3–18 years old: 39 atopic patients to the main group and 47 non-atopic patients to the control group. All the patients were tested for SNP variants of rs_7927894 FLG and serum concentrations of total IgE, CTACK/CCL27 and TARC/CCL17. Results: Within AD alone phenotype patients we detected the following significant risk ratios: cytosinethymine (C/T) rs_7927894 FLG [odds ratio (OR) = 4.14, p < 0.05], total IgE > 173 IU/ml (OR = 8.98, p < 0.001), CTACK/ CCL27 > 3658.5 pg/ml (OR = 5.64, p < 0.01). Atopic disorders combined with other AtD phenotype: C/T rs_7927894 FLG (OR = 2.88, p < 0.05), total IgE > 213 IU/ml (OR = 136.7, p < 0.001), CTACK/CCL27 > 4308.8 pg/ml (OR = 7.40, p < 0.001). With AD combined with other AtD collated to AD alone – total IgE > 1001 IU/ml (OR = 16.0, p < 0.001). TARC/CCL17 had no significant differences among main and control groups. Conclusions: Cytosinethymine rs_7927894 FLG variant combined with cut-off serum IgE and CTACK/ CCL27 levels is a novel significant personalized multi-marker panel for assessing the risk of development of the different AD phenotypes in children.","PeriodicalId":39653,"journal":{"name":"Pediatria Polska","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70501255","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}
Pub Date : 2023-01-01DOI: 10.5114/polp.2023.130846
Anna Chanas, Klaudia Obsznajczyk, B. Kucińska, Bożena Werner
Congenital coronary artery anomalies are rare and represent 0.24–0.46% of all congenital heart defects. The most common is an anomaly in which the left coronary artery arises from the pulmonary artery (ALCAPA), also known as a Bland-White-Garland syndrome. Nonspecific symptoms typically appear at 2–3 months of age. We present the case of a 10-week-old boy admitted to the hospital due to cough and dyspnea, with suspicion of a respiratory tract infection with no clinical improvement after standard therapy. The chest X-ray revealed cardiomegaly. The electrocardiogram showed signs of anterolateral infarction. Echocardiography revealed signs of dilatated cardiomyopathy and color Doppler was of great value in establishing a final diagnosis. After confirming the diagnosis of ALCAPA in computed tomography angiography, the patient was operated on, with a good outcome.
{"title":"Cough as a symptom of respiratory infection or a rare cardiological pathology in an infant","authors":"Anna Chanas, Klaudia Obsznajczyk, B. Kucińska, Bożena Werner","doi":"10.5114/polp.2023.130846","DOIUrl":"https://doi.org/10.5114/polp.2023.130846","url":null,"abstract":"Congenital coronary artery anomalies are rare and represent 0.24–0.46% of all congenital heart defects. The most common is an anomaly in which the left coronary artery arises from the pulmonary artery (ALCAPA), also known as a Bland-White-Garland syndrome. Nonspecific symptoms typically appear at 2–3 months of age. We present the case of a 10-week-old boy admitted to the hospital due to cough and dyspnea, with suspicion of a respiratory tract infection with no clinical improvement after standard therapy. The chest X-ray revealed cardiomegaly. The electrocardiogram showed signs of anterolateral infarction. Echocardiography revealed signs of dilatated cardiomyopathy and color Doppler was of great value in establishing a final diagnosis. After confirming the diagnosis of ALCAPA in computed tomography angiography, the patient was operated on, with a good outcome.","PeriodicalId":39653,"journal":{"name":"Pediatria Polska","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70502388","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}
Pub Date : 2023-01-01DOI: 10.5114/polp.2023.125423
Izabela M Cendal, B. Królak-Olejnik
{"title":"Blood group relevance for the newborn – the ABO system and neonatal diseases","authors":"Izabela M Cendal, B. Królak-Olejnik","doi":"10.5114/polp.2023.125423","DOIUrl":"https://doi.org/10.5114/polp.2023.125423","url":null,"abstract":"","PeriodicalId":39653,"journal":{"name":"Pediatria Polska","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70501028","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}
Pub Date : 2023-01-01DOI: 10.5114/polp.2023.128854
P. Rok-Bujko, Joanna Kawecka
{"title":"Psychological and functional problems of children and adolescents with cerebral palsy from the neurodevelopmental perspective","authors":"P. Rok-Bujko, Joanna Kawecka","doi":"10.5114/polp.2023.128854","DOIUrl":"https://doi.org/10.5114/polp.2023.128854","url":null,"abstract":"","PeriodicalId":39653,"journal":{"name":"Pediatria Polska","volume":"51 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70502177","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}
Pub Date : 2023-01-01DOI: 10.5114/polp.2023.125388
Mervat Ismail, F. Fadel, A. Rashad, Doaa M. Salah, M. Rasheed, N. Kantoush, Mona H. Ibrahim, M. Kafoury, Manal F Elshamaa
{"title":"Significance of anti-endothelial cell antibodies in paediatric\u0000kidney transplant recipients","authors":"Mervat Ismail, F. Fadel, A. Rashad, Doaa M. Salah, M. Rasheed, N. Kantoush, Mona H. Ibrahim, M. Kafoury, Manal F Elshamaa","doi":"10.5114/polp.2023.125388","DOIUrl":"https://doi.org/10.5114/polp.2023.125388","url":null,"abstract":"","PeriodicalId":39653,"journal":{"name":"Pediatria Polska","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70500972","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}
Pub Date : 2023-01-01DOI: 10.5114/polp.2023.126132
A. Abaturov, A. Nikulina
{"title":"Functional annotation of lactase gene and its distal enhancer MCM6 for prediction of metabolically unhealthy obesity","authors":"A. Abaturov, A. Nikulina","doi":"10.5114/polp.2023.126132","DOIUrl":"https://doi.org/10.5114/polp.2023.126132","url":null,"abstract":"","PeriodicalId":39653,"journal":{"name":"Pediatria Polska","volume":"11 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70501279","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}
Pub Date : 2023-01-01DOI: 10.5114/polp.2023.127966
Grażyna Waśka, Weronika Fijałkowska, Marta Badeńska, Andrzej Badeński, Agnieszka A. Książek, R. Tomaszewska, E. Trembecka-Dubel, M. Szczepańska
{"title":"Acquired thrombotic thrombocytopaenic purpura of an atypical, oligosymptomatic course in an adolescent girl – case report","authors":"Grażyna Waśka, Weronika Fijałkowska, Marta Badeńska, Andrzej Badeński, Agnieszka A. Książek, R. Tomaszewska, E. Trembecka-Dubel, M. Szczepańska","doi":"10.5114/polp.2023.127966","DOIUrl":"https://doi.org/10.5114/polp.2023.127966","url":null,"abstract":"","PeriodicalId":39653,"journal":{"name":"Pediatria Polska","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70501464","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}
Pub Date : 2023-01-01DOI: 10.5114/polp.2023.128800
Anna Fedorowicz, M. Pasierbek, W. Korlacki
Lymphadenopathy is a common clinical condition in the paediatric population. In 50% of cases it occurs in otherwise healthy children, and in 75% it presents as a localized form. Lymphadenopathy lasting more than 3 months is defined as chronic. Common conditions causing lymph node enlargement include infections, malignancies, and autoimmune disorders. Mycobacteria causing infectious lymphadenopathy are divided into tuberculous and non-tuberculous mycobacteria (NTM). Diagnosing mycobacterial disease is complicated, and definitive surgery is the best treatment option for NTM cervicofacial lymphadenitis. We present a case of a 2-year-old girl with chronic cervical lymphadenopathy, eventually diagnosed as NTM infection. The diagnostic and therapeutic process was complicated, demanding an interdisciplinary approach and several surgical procedures. The treatment was supported by negative pressure therapy.
{"title":"Atypical mycobacterial cervical lymphadenopathy in a 2-year-old girl","authors":"Anna Fedorowicz, M. Pasierbek, W. Korlacki","doi":"10.5114/polp.2023.128800","DOIUrl":"https://doi.org/10.5114/polp.2023.128800","url":null,"abstract":"Lymphadenopathy is a common clinical condition in the paediatric population. In 50% of cases it occurs in otherwise healthy children, and in 75% it presents as a localized form. Lymphadenopathy lasting more than 3 months is defined as chronic. Common conditions causing lymph node enlargement include infections, malignancies, and autoimmune disorders. Mycobacteria causing infectious lymphadenopathy are divided into tuberculous and non-tuberculous mycobacteria (NTM). Diagnosing mycobacterial disease is complicated, and definitive surgery is the best treatment option for NTM cervicofacial lymphadenitis. We present a case of a 2-year-old girl with chronic cervical lymphadenopathy, eventually diagnosed as NTM infection. The diagnostic and therapeutic process was complicated, demanding an interdisciplinary approach and several surgical procedures. The treatment was supported by negative pressure therapy.","PeriodicalId":39653,"journal":{"name":"Pediatria Polska","volume":"29 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70501814","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}
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