Journal of Pediatric Research最新文献

{"title":"Comparative Evaluation of Clinical, Spiro/Oscillometric and Tomographic Parameters as a Global Assessment of Children with Cystic Fibrosis","authors":"Esra Toprak Kanık, Özge Yılmaz, Ali Kanık, Emine Ece Özdoğru, Yurda Şimşek, Hüseyin Hüdaver Alper, Hasan Yüksel","doi":"10.4274/jpr.galenos.2022.09582","DOIUrl":"https://doi.org/10.4274/jpr.galenos.2022.09582","url":null,"abstract":"","PeriodicalId":42409,"journal":{"name":"Journal of Pediatric Research","volume":"32 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136270831","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}

{"title":"Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign","authors":"Ayşe Hitay İnan, B. Şeker Yılmaz, F. Bulut, S. Kılavuz, D. Kor, M. Karakaş, Halise Neslihan Önenli Mungan","doi":"10.4274/JPR.GALENOS.2020.82621","DOIUrl":"https://doi.org/10.4274/JPR.GALENOS.2020.82621","url":null,"abstract":"Ad dress for Cor res pon den ce Fatma Derya Bulut, Adana City Training and Research Hospital, Clinic of Pediatric Metabolism and Nutrition, Adana, Turkey Phone: +90 532 743 27 18 E-mail: deryaozduran@yahoo.com ORCID: orcid.org/0000-0003-0529-2404 Re cei ved: 04.06.2020 Ac cep ted: 03.07.2020 Introduction Mucopolysaccharidosis (MPS) is a group of progressive lysosomal storage disorders caused by mutations of the genes encoding lysosomal enzymes that have a role in the degradation of glycosaminoglycans (GAG). MPS type-II is characterized by dermatan and heparan sulfate storage in all tissues due to iduronate sulfatase (IDS) enzyme deficiency caused by IDS gene mutations (1). It was first described in two brothers by Hunter (2) in 1917. Hunter syndrome (MPS type-II) is an X-linked inherited disease, whereas all the other types of MPS are autosomal recessively inherited. Although it is almost exclusively seen in males, there are a few rare female cases reported. Its incidence is estimated to be between 1:100,000 and 1:170,000 male births (3).","PeriodicalId":42409,"journal":{"name":"Journal of Pediatric Research","volume":"8 1","pages":"206-208"},"PeriodicalIF":0.3,"publicationDate":"2021-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47849139","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}

{"title":"The Neurodevelopmental Outcome of Severe Neonatal Haemolytic and Non-hemolytic Hyperbilirubinemia","authors":"A. Taksande","doi":"10.4274/JPR.GALENOS.2020.46762","DOIUrl":"https://doi.org/10.4274/JPR.GALENOS.2020.46762","url":null,"abstract":"","PeriodicalId":42409,"journal":{"name":"Journal of Pediatric Research","volume":"8 1","pages":"214-215"},"PeriodicalIF":0.3,"publicationDate":"2021-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49153937","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}

{"title":"A Rare Case of Burkitt Lymphoma in a 13-year-girl","authors":"Büşra Yılmaz, E. Somay, Bermal Hasbay","doi":"10.4274/JPR.GALENOS.2020.37980","DOIUrl":"https://doi.org/10.4274/JPR.GALENOS.2020.37980","url":null,"abstract":"given her consent for her radiological images and other clinical information to be reported in the journal. The patient","PeriodicalId":42409,"journal":{"name":"Journal of Pediatric Research","volume":"8 1","pages":"202-205"},"PeriodicalIF":0.3,"publicationDate":"2021-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48514370","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}

{"title":"Psycholinguistic and Psychometric Measurements of the Turkish Pediatric Epilepsy Medication Selfmanagement Questionnaire","authors":"Şerife Tutar, A. İşler Dalgıç","doi":"10.4274/JPR.GALENOS.2020.87587","DOIUrl":"https://doi.org/10.4274/JPR.GALENOS.2020.87587","url":null,"abstract":"Aim:","PeriodicalId":42409,"journal":{"name":"Journal of Pediatric Research","volume":"8 1","pages":"145-154"},"PeriodicalIF":0.3,"publicationDate":"2021-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45889426","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}

{"title":"Comparison of the Efficacy of Three Natural Surfactants in Preterm Turkish Newborns with Respiratory Distress Syndrome","authors":"F. H. Yılmaz, Nuriye Tarakçı, N. Gültekin, M. Yücel, Ramazan Keçeci, Elif Nur Yıldırım Öztürk, H. Altunhan","doi":"10.4274/JPR.GALENOS.2020.04864","DOIUrl":"https://doi.org/10.4274/JPR.GALENOS.2020.04864","url":null,"abstract":"Aim: To determine the efficacy of three natural surfactant preparations in our community and the short-and long-term results of these on preterm infants","PeriodicalId":42409,"journal":{"name":"Journal of Pediatric Research","volume":"8 1","pages":"124-130"},"PeriodicalIF":0.3,"publicationDate":"2021-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45126413","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}

{"title":"Uncovering the Barriers to Exclusive Breast Feeding for Mothers in a Rural Setting in Southern India","authors":"Supriya Venkatachalapathi, Alexander Mannu, Kathir Subramaniyam, Jaishree Vasudevan, Umadevi Lala","doi":"10.4274/JPR.GALENOS.2020.20438","DOIUrl":"https://doi.org/10.4274/JPR.GALENOS.2020.20438","url":null,"abstract":".","PeriodicalId":42409,"journal":{"name":"Journal of Pediatric Research","volume":"8 1","pages":"181-187"},"PeriodicalIF":0.3,"publicationDate":"2021-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46576465","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}

{"title":"Outcomes of Dyslipidemia Screening Program in School-aged Children","authors":"Engin Köse, M. Köse, S. Topçu, Büşra Matur, Buke Baris, B. Özkan","doi":"10.4274/JPR.GALENOS.2020.02693","DOIUrl":"https://doi.org/10.4274/JPR.GALENOS.2020.02693","url":null,"abstract":"Aim: Screening of dyslipidemia in childhood has been controversial. While some guidelines recommend screening for dyslipidemia in children, others emphasize that there is insufficient evidence for screening for dyslipidemia in those less than 20 years of age. In this study, we aimed to evaluate the outcomes of a lipid screening program and reveal the pros and cons of this program. Materials and Methods: All patients referred to a paediatric metabolism outpatient clinic by family physicians with the suspicion of dyslipidemia in a lipid screening program at schools were investigated. Demographic and physical examination findings, screening lipid profiles and fasting control lipid profiles of the patients were evaluated. The definitive diagnosis with fasting lipid profile and genetic analysis were recorded. Results: Two hundred seventy-four patients suspected with dyslipidemia were enrolled in the study. The mean age of study group was 9.2±3.2 (5-17) years. While 158 (57.7%) patients were admitted with high total cholesterol (TC) and low-density lipoprotein cholesterol, high triglyceride level was detected in 58 (21.2%) patients via a paediatric lipid screening program. A high TC level was revealed in 26 (9.5%) patients. With the control fasting lipid profile, 100 (36.5%) patients had a normal lipid profile. Fifty-nine (21.5%) patients were diagnosed with familial hypercholesterolemia (FH), and hyperchylomicronemia and hypobetalipoproteinemia were revealed in 5 (1.8%) and 4 (1.5%) patients, respectively. Eleven patients diagnosed with FH did not declare hyperlipidemia in parents. In a screening of these patients’ immediate families, 11 parents and 3 siblings were diagnosed with familial hyperlipidemia. Conclusion: This is the first study performed to date that evaluated the outcomes of a lipid screening program on school age children in Turkey. We found that this screening program is effective in diagnosing not only the patients but also asymptomatic parents and siblings. Evaluation and verification of dyslipidemia should be performed under fasting conditions to avoid false positive results.","PeriodicalId":42409,"journal":{"name":"Journal of Pediatric Research","volume":"8 1","pages":"155-160"},"PeriodicalIF":0.3,"publicationDate":"2021-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42130804","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}

{"title":"Evaluation of Cardiac Findings in Mucopolysaccharidosis Type III Patients","authors":"B. Bilginer Gürbüz, E. Aypar, D. Alehan, A. Tokatlı, T. Coşkun, A. Dursun, H. Sivri","doi":"10.4274/JPR.GALENOS.2021.65768","DOIUrl":"https://doi.org/10.4274/JPR.GALENOS.2021.65768","url":null,"abstract":"mean age of the participants was 12.24±5.21 years (range: 1-26). The mean age at which the patients underwent echocardiography was 6.90±4.82 years. MPS IIIA, IIIB, IIIC, and IIID subtypes were present in 24 (49.0%), 19 (38.8%), 5 (10.2%), and 1 (2.0%) patient, respectively. Among the MPS III patients who had echocardiographic evaluation (n=44), 32 patients (72.7%) had pathological cardiac findings, while 12 patients (27.3%) had normal cardiac findings on echocardiographic examination. The most common cardiac pathologies were those related to mitral valve [valve insufficiency 52.3% (n=27), valve thickening 43.2% (n=25), and prolapse 38.6% (n=23)]. Tricuspid insufficiency (34.8%, n=8) was seen only in MPS IIIA. Mitral insufficiency and aortic valve thickening were significantly more common among females (p=0.014, p=0.025, respectively). Conclusion: Patients with MPS III should be closely monitored for cardiac pathologies and especially mitral valve insufficiency, which are more prevalent among females.","PeriodicalId":42409,"journal":{"name":"Journal of Pediatric Research","volume":"8 1","pages":"195-201"},"PeriodicalIF":0.3,"publicationDate":"2021-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46993615","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}

{"title":"The Relation of Complete Blood Count Parameters with Metabolic and Clinical Parameters in Overweight and Obese Children","authors":"A. Anık, E. Çelik, A. Anık","doi":"10.4274/JPR.GALENOS.2020.74824","DOIUrl":"https://doi.org/10.4274/JPR.GALENOS.2020.74824","url":null,"abstract":"Aim: This study aims to assess white blood cell count, platelet count, and platelet indices as a metabolic indicator in overweight, obese and morbidly obese children. Materials and Methods: One-hundred and thirty overweight, 341 obese, 188 morbidly obese children and 110 controls were enrolled in the study. Anthropometric measurements, pubertal status, complete blood count parameters [white blood cells (WBC), platelet, mean platelet volume (MPV), plateletcrit (PCT), and platelet distribution width (PDW)], WBC differential (neutrophils, lymphocytes, and monocytes), neutrophil/ lymphocyte ratio (NLR) and platelet/lymphocyte ratio (PLR), and serum levels of glucose, lipids, aspartate transaminase (AST), and alanine transaminase (ALT), insulin and thyroid hormones were obtained from the hospital records. Insulin resistance was assessed according to the homeostasis model assessment-insulin resistance (HOMA-IR) index. Results: WBC, neutrophil, lymphocyte, and monocyte counts were highest in the morbidly obese group followed by the obese, overweight, and healthy groups, respectively. Platelet count, PCT, and PDW were significantly higher in the morbidly obese, obese, and overweight groups compared to the healthy group. However, there was no significant difference between the groups in terms of MPV, NLR, and PLR. WBC, neutrophil, lymphocyte, platelet, PCT, ALT, and triglyceride levels were higher in children with insulin resistance than those without insulin resistance. There was a positive correlation with the neutrophil, lymphocyte, monocyte count, and PCT value, and a negative correlation with the PDW value. Moreover, there was a positive correlation between the HOMA-IR and WBC, neutrophil, lymphocyte count, and PCT. Conclusion: WBC, neutrophils, lymphocytes, monocytes, platelets, and PCT values increase in childhood obesity, which could point towards low-grade chronic inflammation and this increase in WBC, neutrophils, lymphocytes, and PCT value may be associated with insulin resistance.","PeriodicalId":42409,"journal":{"name":"Journal of Pediatric Research","volume":"8 1","pages":"161-170"},"PeriodicalIF":0.3,"publicationDate":"2021-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45198799","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}