The Turkish journal of pediatrics最新文献

{"title":"Parvovirus B19 infection in children: Is it more severe than expected?","authors":"Öznur Ege Akdi, Kübra Aykaç, Ali Bülent Cengiz, Yasemin Özsürekçi","doi":"10.24953/turkjpediatr.2024.4895","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4895","url":null,"abstract":"","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"625-629"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712368","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":"Sleep in hospitalized children with cancer: relationship with psychiatric disorders and hospital conditions.","authors":"Burcu Güneydaş Yıldırım, Hasan Cem Aykutlu, Tuba Eren","doi":"10.24953/turkjpediatr.2024.4769","DOIUrl":"10.24953/turkjpediatr.2024.4769","url":null,"abstract":"<p><strong>Background: </strong>Children with cancer often undergo prolonged and recurrent hospitalization, which leads to an increased incidence of sleep disruptions and psychiatric disorders. This study aimed to objectively quantify the prevalence of sleep disruptions in hospitalized pediatric oncology patients and to determine the effects of psychiatric disorders, treatment regimens, and hospital conditions on sleep patterns.</p><p><strong>Method: </strong>This cross-sectional study included 39 children who were undergoing treatment and monitoring in the pediatric oncology inpatient service. Parents completed questionnaires providing information about their child's sleep patterns, quality of life, and hospital conditions. The children were monitored for five days using actigraphy to record sleep parameters. They were evaluated with a semi-structured interview form (Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version-DSM 5-Turkish Adaptation) for psychiatric diagnoses.</p><p><strong>Results: </strong>Sleep disruptions were identified in 27 (69.2%) children with cancer. In addition to adjustment disorder and anxiety disorder psychiatric diagnoses, behavioral problems and emotional symptoms were more common in the group with sleep disruptions. Actigraphy measurements indicated that poor sleep was associated with younger age, recent cancer diagnosis, specific phobias, depression, daytime napping, and frequent vital sign assessments.</p><p><strong>Conclusion: </strong>Sleep problems in hospitalized children with cancer are linked to psychiatric comorbidities, treatment routines, and hospital conditions. By recognizing psychiatric symptoms and optimizing hospital conditions that affect sleep, healthcare providers can enhance the quality of sleep for these children.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"544-555"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142711283","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 lead levels in children with chronic constipation.","authors":"Abdurrahman Zarif Güney, Güzide Doğan, Ali Toprak","doi":"10.24953/turkjpediatr.2024.4900","DOIUrl":"10.24953/turkjpediatr.2024.4900","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to assess blood and hair lead levels (BLL and HLL) in children with chronic constipation and compare them to healthy children; and investigated lead exposure's role in the etiology of constipation. It also explored the correlation between BLL and HLL.</p><p><strong>Study design: </strong>The study included 84 constipated children aged 3-18 years as the case group and an equal number of constipation-free children as controls. Organic diseases were ruled out through history-taking, physical exams and laboratory tests. Blood and hair samples were collected and analyzed for lead levels using standardized methods.</p><p><strong>Results: </strong>The constipated children group had significantly higher BLL (3.66 µg/dL) compared to the control group (1.61 µg/dL) with no significant HLL difference. Additionally, 48.8% of constipated children exceeded the reference value of 3.5 μg/dL, in contrast to 4.8% of the control group. BLL was unaffected by gender and age, while HLL were higher in girls and low ages. No significant correlation existed between BLL and HLL. The age of the housing showed a positive correlation with higher BLL and HLL. Lead exposure sources like drinking water, home renovation history, parental smoking, or nearby industrial facilities showed no significant relationships with lead levels.</p><p><strong>Conclusions: </strong>Understanding the constipation-lead exposure link is crucial for prevention and intervention. HLL may vary with gender and age due to external lead particles, which is why BLL continues to be a more reliable measure. Healthcare providers should remember to investigate lead exposure risk factors in constipation patients and test BLL when necessary.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"525-533"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712355","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":"Adaptation of the ''Food Allergy Self-Efficacy Scale for Parents''(FASE-P) to Turkish: a validity and reliability study.","authors":"Nilay Çalışkan, Şeyma Genç, Güler Yıldırım, Hamit Bologur, Hilal Güngör, Merve Karaca Şahin, Muhammed Fatih Erbay, Şefika İlknur Kökcü Karadağ, Özlem Terzi, Deniz Özçeker","doi":"10.24953/turkjpediatr.2024.4691","DOIUrl":"10.24953/turkjpediatr.2024.4691","url":null,"abstract":"<p><strong>Background: </strong>Food allergy is a public health issue that has a significant impact on the lives of families. Parental self-efficacy/confidence is important in managing food allergies. The aim of this study is to validate the \"Food Allergy Self-Efficacy Scale for Parents\" (FASE-P) and assess parental self-efficacy in managing their child's food allergy.</p><p><strong>Methods: </strong>Turkish version of the FASE-P (T-FASE-P) was administered to 347 parents of children aged 0-18 who had been followed for at least one month due to food allergy at the Pediatric Allergy Clinic of Prof. Dr. Cemil Taşcıoğlu City Hospital between September 1 and December 31, 2023, through face-to-face interviews and online surveys for parents of children with food allergies from the general population. Content validity, exploratory factor analysis (EFA), and confirmatory factor analysis (CFA) were conducted to evaluate the validity of the scale. General Self-Efficacy Scale (GSES) was used for concurrent criterion validity. Internal consistency analysis, test-retest application, and item analysis were conducted to assess its reliability.</p><p><strong>Results: </strong>T-FASE-P scale initially contained 21 items, and the Cronbach's alpha coefficient (α) calculated in this form was found to be 0.89. Later, when 4 items were excluded, the 17-item version of the scale was calculated as α=0.90. The intra-class correlation coefficient between the test and re-test was found to be 0.972. The content validity index value of the scale was calculated as 0.99, indicating that the content validity was at a sufficient level. In the EFA, it was determined that the scale formed a three-factor structural model and that this model explained 60.82% of the total variance. As a result of the CFA, the fit indices were calculated as χ2/df=2.341, GFI=0.919, TLI=0.950, indicating a good level of fit. Based on the analysis results, T-FASE-P consists of 17 items and three subscales.</p><p><strong>Conclusion: </strong>T-FASE-P scale is a valid and reliable measurement tool that can be used to determine the food allergy self-efficacy of Turkish parents.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"534-543"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712360","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":"Common complications in spinal muscular atrophy (SMA) type 1 after nusinersen treatment.","authors":"Yiğithan Güzin, Osman Büyükşen, Pınar Gençpınar, Nihal Olgaç Dündar, Figen Baydan","doi":"10.24953/turkjpediatr.2024.4527","DOIUrl":"10.24953/turkjpediatr.2024.4527","url":null,"abstract":"<p><strong>Background: </strong>Spinal muscular atrophy (SMA) is an inherited disease with progressive muscle weakness and atrophy. Despite the new treatments developed recently, primary and secondary effects of muscle weakness in patients with SMA cause mortality and morbidity. The aim of this study is to identify common problems in the follow-up of patients after new treatment modalities and to examine the difficulties in management of these problems.</p><p><strong>Methods: </strong>The study included 16 patients diagnosed with SMA type 1 according to clinical findings and genetic results between 2017 and 2022. The patients were divided into two groups as living and deceased, and complications were examined and compared between the groups.</p><p><strong>Results: </strong>The patients comprised 8 (50%) females and 8 (50%) males with a median age at diagnosis of 3 months. The patients had a history of gastrointestinal problems, orthopedic problems, infection and sepsis, and especially respiratory distress. Death occurred in 8 (50%) patients during follow-up (median age 38 months). Mortality was higher in patients who needed tracheostomy and had gastroesophageal reflux. The survival rate was better in patients who received more nusinersen treatment and had a higher CHOP-INTEND score.</p><p><strong>Conclusions: </strong>Despite new-generation treatments for SMA type 1, morbidity and mortality rates remain very high. As the survival rate in SMA type 1 increases, the incidence of complications similar to those frequently seen in SMA type 2 and type 3 patients also increases. The follow-up and treatment of patients with SMA should be undertaken by a multidisciplinary team.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"567-577"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712366","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":"Single-center experience of four cases with iron-refractory iron deficiency anemia (IRIDA).","authors":"Gülin Parlak, Muhammed Doğukan Aksu, Fatma Gümrük, Şule Ünal","doi":"10.24953/turkjpediatr.2024.4522","DOIUrl":"10.24953/turkjpediatr.2024.4522","url":null,"abstract":"<p><strong>Background: </strong>Iron refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive type of anemia characterized by unresponsiveness to oral iron therapy and partial response to parenteral iron therapy. In this article, we report the clinical presentation of four patients with IRIDA admitted to our clinic, including their laboratory values at admission and after oral and parenteral iron treatment, and the analysis of their mutation(s) in TMPRSS6 gene.</p><p><strong>Case: </strong>Four patients from different families, aged between 3 and 14 years, two girls and two boys, two of whom were from consanguineous marriages, who were diagnosed with iron deficiency anemia in primary health care institutions and referred to our clinic because of inadequate response to oral iron treatment were included. Patients were evaluated for the differential diagnosis of microcytic, hypochromic anemia and investigated for the etiology of IDA. Homozygous or compound heterozygous mutations causing defective matriptase-2 protein expression were detected in the TMPRSS6 gene; these mutations included four frameshift mutations-two of which were the same in two cases and causing premature terminal stop codons-and a nonsense mutation, all of which were previously demonstrated in the literature. The response to parental iron therapy ranged from complete non-response to mild to good response in hemoglobin levels, but none of the patients showed improvement in iron parameters.</p><p><strong>Conclusions: </strong>Increased awareness of IRIDA and keeping it in mind in the differential diagnosis in the presence of hypochromic microcytic anemia that does not respond to iron treatment will be crucial in improving the diagnosis and treatment of the disease and ultimately enhancing the quality of care for affected individuals.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"658-665"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142711223","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":"Exploring the predictive factors in the gastrointestinal involvement of patients with immunoglobulin A vasculitis.","authors":"Betül Öksel, Nihal Şahin, Hafize Emine Sönmez","doi":"10.24953/turkjpediatr.2024.4797","DOIUrl":"10.24953/turkjpediatr.2024.4797","url":null,"abstract":"<p><strong>Background: </strong>Immunoglobulin A vasculitis (IgAV), the most common systemic vasculitis in children, typically presents with gastrointestinal (GI) symptoms in about half of cases. This study aimed to analyze the clinical and laboratory findings of patients with IgAV regarding GI involvement.</p><p><strong>Methods: </strong>We compared the GI involvement data of the patients diagnosed with IgAV.</p><p><strong>Results: </strong>Of the 210 patients (60.5% female and 39.5% male), 101 had GI involvement, with abdominal pain being the predominant symptom (n=98). White blood cell, neutrophil, monocyte, and platelet counts, C-reactive protein, neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), monocyte-to-lymphocyte ratio (MLR), systemic immune-inflammation index (SII), and systemic inflammation response index (SIRI) were significantly elevated in patients with GI involvement (p<0.001, p<0.001, p=0.01, p=0.005, p=0.002, p<0.001, p=0.03, p=0.001, p<0.001, p<0.001, respectively). The cutoff values for SII (>1035.7), SIRI (>1.65), NLR (>2.73), and MLR (>0.28) were determined, yielding respective sensitivities of 46%, 59%, 47%, and 53%, specificities of 83.1%, 69.1%, 81.3%, and 71.9%. Corresponding areas under the curve were 0.658, 0.668, 0.649, and 0.634, respectively (all p<0.001).</p><p><strong>Conclusion: </strong>Although IgAV is a self-limiting disease, GI involvement can lead to serious consequences. Systemic inflammatory indices such as SII and SIRI may be indicative in identifying patients with GI involvement.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"599-607"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712356","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":"Interpretation of pseudothrombocytopenia using platelet histograms and flags in a hematology autoanalyzer in a healthy child: a case report.","authors":"Emine Dönmez, Zühre Kaya","doi":"10.24953/turkjpediatr.2024.5090","DOIUrl":"10.24953/turkjpediatr.2024.5090","url":null,"abstract":"<p><strong>Background: </strong>Pseudothrombocytopenia is a spurious thrombocytopenia caused mostly by ethylenediaminetetraacetic acid (EDTA) use, and if detected early, unnecessary testing and treatment can be avoided. We present pseudothrombocytopenia caused by EDTA and citrate in an asymptomatic healthy child, as well as the value of using peripheral blood smear, platelet histogram, and flag data.</p><p><strong>Case: </strong>A previously healthy 13-year-old girl with thrombocytopenia who developed tonsillitis 12 days previously was referred to our hematology department. Laboratory tests revealed severe thrombocytopenia (17x103/µL) in EDTA samples. A peripheral blood smear revealed numerous platelet clumping. We hypothesized EDTA-dependent pseudothrombocytopenia and ordered a platelet count by citrate tube. A citrate tube revealed thrombocytopenia with a platelet count of 55x103/µL. The platelet count (175x103/µL) returned to normal with heparin tubing. All blood samples had a similar platelet histogram and flags in the autoanalyzer. The platelet histogram indicated a serrated/sawtooth curve containing the largest platelet aggregates. Platelet flags alert messages about platelet clumping.</p><p><strong>Conclusions: </strong>Peripheral blood smear is the most reliable test for pseudothrombocytopenia. If the physician has no experience with smear examination, both laboratory technician and physician should be aware of abnormal platelet histograms and platelet clumping messages in platelet flags, which indicate pseudothrombocytopenia.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"666-671"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712358","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":"Dent's disease: case series from a single center.","authors":"Hilal Yaşar, Emre Leventoğlu, Bahar Büyükkaragöz, Kibriya Fidan, Sevcan A Bakkaloğlu, Oğuz Söylemezoğlu","doi":"10.24953/turkjpediatr.2024.4556","DOIUrl":"10.24953/turkjpediatr.2024.4556","url":null,"abstract":"<p><strong>Background: </strong>Dent's disease (DD) is a rare X-linked recessive tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis/nephrolithiasis and chronic kidney disease. With this manuscript, we reported three patients diagnosed as DD in our department in the last 10 years and thereby described the genetics, pathophysiology, clinical presentation, course and management of the disease.</p><p><strong>Cases: </strong>The first case was a male newborn who was consulted to our department after medullary nephrocalcinosis was detected. The second case was a 4-year-old boy who was treated with a diagnosis of urinary tract infection but was found to have proteinuria. Our last case was an 11-month-old male infant who was being followed up for recurrent urinary tract infection and who had millimetric crystalloids in the renal collecting system. Proteinuria and hypercalciuria were present in all cases. Variants were observed in the CLCN5 gene for the first two cases (c.1852G>A and c.1557+1G>T, respectively) and OCRL gene (c.952C>T) for the last case. All patients were recommended oral hydration and a low-salt diet, and hydrochlorothiazide and enalapril were started. No deterioration in kidney function was observed in any patient.</p><p><strong>Conclusion: </strong>DD is a disease that shows different phenotypes even among individuals with mutations in the same gene. Therefore, it should be considered in all patients with hypercalciuria, proteinuria, nephrolithiasis or nephrocalcinosis with/without proximal tubular dysfunction especially in the early childhood period. Classical treatments for hypercalciuria should be utilized, and a patient-based treatment plan should be drawn especially for proteinuria.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"649-657"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712353","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":"Challenging clinical management of a patient with Gaucher disease type IIIC homozygous for the D409H mutation, aortic valve calcification and porcelain aorta.","authors":"Musa Öztürk, Ebru Aypar, Hülya Demir, Hayriye Hızarcıoğlu Gülşen, İlker Ertuğrul, Murat Güvener, Ergün Barış Kaya","doi":"10.24953/turkjpediatr.2024.5206","DOIUrl":"10.24953/turkjpediatr.2024.5206","url":null,"abstract":"<p><strong>Background: </strong>Gaucher disease is a rare lysosomal storage disorder caused by glucocerebrosidase enzyme deficiency resulting in the cumulative deposition of glucocerebroside in macrophages, predominantly effecting bone marrow, liver and spleen. Gaucher disease type IIIC is a rare subtype that is characterized by cardiovascular involvement, eye-movement disorders, and late-onset neurological symptoms.</p><p><strong>Case presentation: </strong>We present a 14-year-old adolescent boy diagnosed with Gaucher disease type IIIC at age four with a homozygous D409H mutation who developed severe aortic valve stenosis, extensive aortic calcification and a porcelain aorta despite enzyme replacement treatment since the diagnosis. Despite the challenges during the cardiac surgery, we successfully performed transcatheter aortic valve implantation (TAVI). The patient developed a complete atrioventricular block and required a pacemaker after the TAVI. He experienced further complications during the follow-up.</p><p><strong>Conclusion: </strong>The case presents the challenges in the treatment of cardiovascular complications in patients with Gaucher disease and demonstrates the importance of individualized treatment approaches, as well as the potential advantages and complications of TAVI in difficult situations like this.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"643-648"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712363","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}