Pub Date : 2022-01-01DOI: 10.5114/polp.2022.114705
Dawid Gruszczyński, Kacper Nijakowski, A. Wolska-Bułach, K. Lacka
Sex chromosome aneuploidies (SCAs) are common chromosomal disorders characterised by an atypical number of sex chromosomes. Turner syndrome (TS), Klinefelter syndrome (KS), and Jacobs syndrome (JS) are associated with a wide spectrum of skeletal manifestations, including craniofacial and limb anomalies. This systematic review aimed to analyse the incidence of skeletal abnormalities in selected SCAs based on case reports. In this review, 55 articles were included from the MEDLINE/PubMed and Google Scholar databases, according to PRISMA guidelines. High-arched palate, skeletal class II, and cubitus valgus were most frequently demonstrated among TS patients. Patients with KS and JS most often presented micrognathia, hypertelorism, and flat nasal bridge in the craniofacial region. In contrast, radioulnar synostosis, clinodactyly, and pes planus could be observed in the limbs of KS patients. The presence of dysmorphic facial features and limb malformations may indicate SCAs, which are underdiagnosed in the general population due to a variety of phenotypes.
{"title":"Skeletal and dental abnormalities in patients with sex chromosome aberrations: a systematic case-based review","authors":"Dawid Gruszczyński, Kacper Nijakowski, A. Wolska-Bułach, K. Lacka","doi":"10.5114/polp.2022.114705","DOIUrl":"https://doi.org/10.5114/polp.2022.114705","url":null,"abstract":"Sex chromosome aneuploidies (SCAs) are common chromosomal disorders characterised by an atypical number of sex chromosomes. Turner syndrome (TS), Klinefelter syndrome (KS), and Jacobs syndrome (JS) are associated with a wide spectrum of skeletal manifestations, including craniofacial and limb anomalies. This systematic review aimed to analyse the incidence of skeletal abnormalities in selected SCAs based on case reports. In this review, 55 articles were included from the MEDLINE/PubMed and Google Scholar databases, according to PRISMA guidelines. High-arched palate, skeletal class II, and cubitus valgus were most frequently demonstrated among TS patients. Patients with KS and JS most often presented micrognathia, hypertelorism, and flat nasal bridge in the craniofacial region. In contrast, radioulnar synostosis, clinodactyly, and pes planus could be observed in the limbs of KS patients. The presence of dysmorphic facial features and limb malformations may indicate SCAs, which are underdiagnosed in the general population due to a variety of phenotypes.","PeriodicalId":39653,"journal":{"name":"Pediatria Polska","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70497168","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 : 2022-01-01DOI: 10.5114/polp.2022.114704
Anna Tomasik, M. Pokorska-Śpiewak, B. Kowalik-Mikołajewska, M. Marczyńska
Dengue is a viral, mosquito-spread disease with a high prevalence in tropical and subtropical areas. We report a case of travel-imported dengue haemorrhagic fever in a 15-year-old Polish boy. The patient presented with fever, headache, and muscle pain. He was initially diagnosed with influenza. He gradually developed skin rash, mild hepatosplenomegaly, episodic gingival bleeding, and mild symptoms of plasma leakage in the form of palms swelling. The laboratory results revealed leukopaenia and thrombocytopaenia with increasing haematocrit. Dengue virus infection was confirmed by simultaneous detection of NS1, IgM, and IgG antibodies. The patient was treated empirically in the critical phase with satisfactory outcome. The symptoms subsided and the platelet and leukocyte levels gradually reached the normal range for his age.
{"title":"A 15-year-old boy with travel-imported dengue haemorrhagic fever","authors":"Anna Tomasik, M. Pokorska-Śpiewak, B. Kowalik-Mikołajewska, M. Marczyńska","doi":"10.5114/polp.2022.114704","DOIUrl":"https://doi.org/10.5114/polp.2022.114704","url":null,"abstract":"Dengue is a viral, mosquito-spread disease with a high prevalence in tropical and subtropical areas. We report a case of travel-imported dengue haemorrhagic fever in a 15-year-old Polish boy. The patient presented with fever, headache, and muscle pain. He was initially diagnosed with influenza. He gradually developed skin rash, mild hepatosplenomegaly, episodic gingival bleeding, and mild symptoms of plasma leakage in the form of palms swelling. The laboratory results revealed leukopaenia and thrombocytopaenia with increasing haematocrit. Dengue virus infection was confirmed by simultaneous detection of NS1, IgM, and IgG antibodies. The patient was treated empirically in the critical phase with satisfactory outcome. The symptoms subsided and the platelet and leukocyte levels gradually reached the normal range for his age.","PeriodicalId":39653,"journal":{"name":"Pediatria Polska","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70497630","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 : 2022-01-01DOI: 10.5114/polp.2022.120119
Michael Stefan, Paweł Zapolnik, A. Pyrkosz
{"title":"Deletion of the RNF6 gene in a patient with epileptic encephalopathy – a case report and literature review","authors":"Michael Stefan, Paweł Zapolnik, A. Pyrkosz","doi":"10.5114/polp.2022.120119","DOIUrl":"https://doi.org/10.5114/polp.2022.120119","url":null,"abstract":"","PeriodicalId":39653,"journal":{"name":"Pediatria Polska","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70498726","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 : 2022-01-01DOI: 10.5114/polp.2022.117914
Julia Graczyk, Oliwia Makowska, Eliza Łężyk-Ciemniak, A. Szaflarska-Popławska, A. Krogulska
{"title":"Celiac disease and ulcerative colitis as comorbid diseases – the diagnostic challenge","authors":"Julia Graczyk, Oliwia Makowska, Eliza Łężyk-Ciemniak, A. Szaflarska-Popławska, A. Krogulska","doi":"10.5114/polp.2022.117914","DOIUrl":"https://doi.org/10.5114/polp.2022.117914","url":null,"abstract":"","PeriodicalId":39653,"journal":{"name":"Pediatria Polska","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70498812","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 : 2022-01-01DOI: 10.5114/polp.2022.120103
N. Ismail, Abeer Nour ElDin Abd ElBaky, Shadia Hassan Ragab, Mona H. Ibrahim
{"title":"The relationship between the Chinese visceral adiposity index and the presence of nonalcoholic fatty liver disease \u0000in obese children – a pilot study","authors":"N. Ismail, Abeer Nour ElDin Abd ElBaky, Shadia Hassan Ragab, Mona H. Ibrahim","doi":"10.5114/polp.2022.120103","DOIUrl":"https://doi.org/10.5114/polp.2022.120103","url":null,"abstract":"","PeriodicalId":39653,"journal":{"name":"Pediatria Polska","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70498840","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 : 2022-01-01DOI: 10.5114/polp.2022.123194
Izabela Pilarska, Kinga Grabska
{"title":"Cardiovascular complications in children and adolescents\u0000with anorexia","authors":"Izabela Pilarska, Kinga Grabska","doi":"10.5114/polp.2022.123194","DOIUrl":"https://doi.org/10.5114/polp.2022.123194","url":null,"abstract":"","PeriodicalId":39653,"journal":{"name":"Pediatria Polska","volume":"91 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70499424","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 : 2022-01-01DOI: 10.5114/polp.2022.123248
Sylwia Feszak, Igor Feszak, Radosław Opiła, J. Peregud-Pogorzelski
{"title":"Borrelial lymphocytoma in a child","authors":"Sylwia Feszak, Igor Feszak, Radosław Opiła, J. Peregud-Pogorzelski","doi":"10.5114/polp.2022.123248","DOIUrl":"https://doi.org/10.5114/polp.2022.123248","url":null,"abstract":"","PeriodicalId":39653,"journal":{"name":"Pediatria Polska","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70500085","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 : 2022-01-01DOI: 10.5114/polp.2022.116033
Paulina Szczygioł, B. Królak-Olejnik
The SARS-CoV-2 coronavirus pandemic significantly influenced aspects of children's nutrition, in particular breastfeeding and the percentage of breastfeeding mothers. During the pandemic, changes in postnatal care have occurred and may result in a global decline of the breastfeeding initiation rate and problems with longterm maintenance of lactation. Mother's milk is not a source of viral infection for a child;on the contrary, due to the presence of antibodies specific to the SARS-CoV-2 virus, it gives the possibility of acquiring passive immune protection. Currently, breastfeeding requires special care and protection. Emphasizing the benefits of human milk should become a priority in obstetric, neonatal and pediatric departments.
{"title":"Breastfeeding during the COVID-19 pandemic","authors":"Paulina Szczygioł, B. Królak-Olejnik","doi":"10.5114/polp.2022.116033","DOIUrl":"https://doi.org/10.5114/polp.2022.116033","url":null,"abstract":"The SARS-CoV-2 coronavirus pandemic significantly influenced aspects of children's nutrition, in particular breastfeeding and the percentage of breastfeeding mothers. During the pandemic, changes in postnatal care have occurred and may result in a global decline of the breastfeeding initiation rate and problems with longterm maintenance of lactation. Mother's milk is not a source of viral infection for a child;on the contrary, due to the presence of antibodies specific to the SARS-CoV-2 virus, it gives the possibility of acquiring passive immune protection. Currently, breastfeeding requires special care and protection. Emphasizing the benefits of human milk should become a priority in obstetric, neonatal and pediatric departments.","PeriodicalId":39653,"journal":{"name":"Pediatria Polska","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70497757","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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