The Turkish journal of pediatrics最新文献

筛选
英文 中文
Central line-associated bloodstream infection outbreak related to Ralstonia pickettii-contaminated saline in a pediatric hematopoietic stem cell transplant center. 一家儿科造血干细胞移植中心爆发的中心管路相关性血流感染,与Ralstonia picketti污染的生理盐水有关。
The Turkish journal of pediatrics Pub Date : 2024-10-07 DOI: 10.24953/turkjpediatr.2024.4529
Safiye Suna Çelen, Suleimen Zhumatayev, Koray Yalçın, Manolya Kara, Murat Sütçü, Gülsün Karasu, M Akif Yeşilipek
{"title":"Central line-associated bloodstream infection outbreak related to Ralstonia pickettii-contaminated saline in a pediatric hematopoietic stem cell transplant center.","authors":"Safiye Suna Çelen, Suleimen Zhumatayev, Koray Yalçın, Manolya Kara, Murat Sütçü, Gülsün Karasu, M Akif Yeşilipek","doi":"10.24953/turkjpediatr.2024.4529","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4529","url":null,"abstract":"<p><strong>Background: </strong>Ralstonia pickettii is an aerobic Gram-negative non-fermentative bacillus. It is an opportunistic pathogen that has recently prompted nosocomial outbreaks. Although it has low virulence, it can cause a wide range of invasive diseases in immunosuppressive patients. The characteristics of R. pickettii-related central line-associated bloodstream infection (CLABSI) outbreak in pediatric hematopoietic stem cell transplant (HSCT) recipients are presented in this study.</p><p><strong>Materials and methods: </strong>This was a single-center, retrospective analysis conducted at Bahcesehir University Goztepe Medicalpark Hospital . The clinical and laboratory characteristics of twelve children with Ralstonia-related CLABSIs were analyzed.</p><p><strong>Results: </strong>Of the twelve patients with R. pickettii growth, seven were female. The median age was 12.1 (2-17) years. Autologous HSCT was performed in two of the patients and allogeneic HSCT was performed in ten patients for both malignant and non-malignant diseases. In the conditioning regimens, all patients were given myeloablative therapy. Clinical sepsis was the most common presentation. As a result of the investigations, R. pickettii growth was observed in saline solutions. All cases were successfully treated with the appropriate antibiotic regimen and the bacteria was not found in repeat cultures. Catheter removal was required in two patients. Mortality was not observed in any patient as the outcome of the infection episode.</p><p><strong>Conclusion: </strong>The detection and control of the infectious source are critical in pediatric HSCT patients with severe immunosuppression, as medical equipment-related outbreaks can be life-threatening.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 4","pages":"421-428"},"PeriodicalIF":0.0,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485117","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
Disseminated cryptococcosis in a child with liver transplantation: a case report. 肝移植患儿的播散性隐球菌病:病例报告。
The Turkish journal of pediatrics Pub Date : 2024-10-07 DOI: 10.24953/turkjpediatr.2024.4817
Doğan Barut, Bora Kunay, Sema Yıldırım Arslan, Gözde Kayalı Akkuş, Zümrüt Şahbudak Bal, Pınar Yazıcı, Miray Karakoyun, Sema Aydoğdu
{"title":"Disseminated cryptococcosis in a child with liver transplantation: a case report.","authors":"Doğan Barut, Bora Kunay, Sema Yıldırım Arslan, Gözde Kayalı Akkuş, Zümrüt Şahbudak Bal, Pınar Yazıcı, Miray Karakoyun, Sema Aydoğdu","doi":"10.24953/turkjpediatr.2024.4817","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4817","url":null,"abstract":"<p><strong>Background: </strong>Cryptococcus neoformans causes cryptococcosis, primarily affecting immunocompromised individuals, including solid-organ transplant recipients, and, less frequently, immunocompetent people.</p><p><strong>Case: </strong>A 15-year-old male with congenital hepatic fibrosis, portal hypertension, and cirrhosis underwent orthotopic liver transplantation. He received perioperative antimicrobial and antifungal prophylaxis and continued immunosuppressive treatment. Thirty months post-transplant, he presented with fever, hypertension, and sacroiliac joint pain. Peripheral blood cultures showed C. neoformans, confirmed by pan-fungal polymerase chain reaction assay and latex agglutination tests. Despite initial treatment with intravenous (IV) fluconazole, his condition worsened, necessitating intubation for acute hypoxic respiratory failure. Magnetic resonance imaging and computed tomography scans indicated disseminated cryptococcosis with lymphadenitis, possible meningitis, and pneumonia. Treatment was escalated to IV liposomal amphotericin B and 5-flucytosine, while reducing immunosuppressive treatment. Despite negative fungal cultures on the tenth day, the patient deteriorated, developing pancreatitis, pneumonia, and massive gastrointestinal bleeding, leading to death on the 35th day of hospitalization.</p><p><strong>Conclusion: </strong>This case shows the severity and complexity of managing disseminated cryptococcosis in pediatric liver transplant recipients. Aggressive therapy and early identification are essential for improving outcomes in these high-risk patients.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 4","pages":"499-504"},"PeriodicalIF":0.0,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485126","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
Safety and efficacy of COVID-19 vaccines in children and adolescents with cancer. COVID-19 疫苗对癌症儿童和青少年的安全性和有效性。
The Turkish journal of pediatrics Pub Date : 2024-10-07 DOI: 10.24953/turkjpediatr.2024.4512
Nilgün Kurucu, Tezer Kutluk, İbrahim Kartal, Şule Yeşil, Özge Vural, Oğuz S Dinçer, Mehmet Ceyhan
{"title":"Safety and efficacy of COVID-19 vaccines in children and adolescents with cancer.","authors":"Nilgün Kurucu, Tezer Kutluk, İbrahim Kartal, Şule Yeşil, Özge Vural, Oğuz S Dinçer, Mehmet Ceyhan","doi":"10.24953/turkjpediatr.2024.4512","DOIUrl":"10.24953/turkjpediatr.2024.4512","url":null,"abstract":"<p><strong>Background: </strong>Children with cancer have a higher morbidity and mortality due to COVID-19. Vaccination of children with cancer is important. In this study, we aimed to investigate the effectiveness and side effects of the COVID-19 vaccines in children and adolescents with cancer.</p><p><strong>Methods: </strong>Fifty-eight patients from four centers were included in the study. Antibodies to the SARS-CoV-2 spike protein levels were measured. Vaccine-related complaints were recorded.</p><p><strong>Results: </strong>There were 33 male and 25 female patients. The mean age was 16.9±2.3 years. In 58.6% of cases, the diagnosis was hematological malignancies. Twenty patients were currently under treatment, while 38 had completed the treatment. Forty-eight patients received chemotherapy ± radiotherapy, 13 received immunotherapy, and 3 underwent stem cell transplantation. CoronoVac© and BNT162b2© vaccines were administered in 24% and 76%, respectively. The mean antibody level was lower in patients who received CoronaVac© than that of BNT162b2©, although the difference was not significant. The levels were within the protective limits in both groups. No significant difference was found in antibody levels according to diagnostic subgroups, treatment status, type of treatment, line of treatment, disease status and time between vaccines and measurement of antibody level. The most common side effects were pain at the injection site (37.9%) and malaise/weakness (17.2%), which were similar for both vaccines.</p><p><strong>Conclusions: </strong>Our study showed that both mRNA and inactivated vaccines elicit an immune response in children with cancer. However, the seroconversion rate is significantly higher in mRNA vaccines. Side effects were similar to those seen in healthy children.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 4","pages":"412-420"},"PeriodicalIF":0.0,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485128","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
Clinicopathological features and treatment of aggressive natural killer cell leukemia: case series and literature review. 侵袭性自然杀伤细胞白血病的临床病理特征和治疗:病例系列和文献综述。
The Turkish journal of pediatrics Pub Date : 2024-10-07 DOI: 10.24953/turkjpediatr.2024.5072
Yongan Ni, Lei Li, Yuping Wang, Lirong Sun
{"title":"Clinicopathological features and treatment of aggressive natural killer cell leukemia: case series and literature review.","authors":"Yongan Ni, Lei Li, Yuping Wang, Lirong Sun","doi":"10.24953/turkjpediatr.2024.5072","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.5072","url":null,"abstract":"<p><strong>Background: </strong>Aggressive natural killer cell leukemia (ANKL) is rare and difficult to diagnose in early stages, with no standard treatment and a poor prognosis.</p><p><strong>Case presentation: </strong>Two adolescents with ANKL presented with hemophagocytic lymphohistiocytosis (HLH), with Case-1 presenting as refractory HLH and Case-2 with lung involvement. The morphology of bone marrow showed an increase in unidentified cells, which mainly expressed CD56. Cytogenetic analysis showed complex karyotypes. Both patients received intensive combined chemotherapy based on pegaspargase and anthracyclines. Case-1 died of tumor lysis syndrome. Case-2 underwent hematopoietic stem cell transplantation and is currently alive and disease-free.</p><p><strong>Conclusions: </strong>HLH can serve as the initial manifestation of ANKL. Leukemia cells of ANKL have significant variations in the morphology and mainly express CD56. Intensive combination chemotherapy based on pegaspargase and anthracyclines may be considered for ANKL.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 4","pages":"481-489"},"PeriodicalIF":0.0,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485121","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
Assessment of vitamin B12 and homocysteine levels in pregnant women admitted for delivery and cord blood samples of their newborn babies: a multicenter study. 一项多中心研究:评估待产孕妇及其新生儿脐带血样本中的维生素 B12 和同型半胱氨酸水平。
The Turkish journal of pediatrics Pub Date : 2024-10-07 DOI: 10.24953/turkjpediatr.2024.4545
Zeynep Yıldız Yıldırmak, Dildar Bahar Genç, Alev Kural, Veli Mıhmanlı, Süleyman Salman, Keziban Doğan, Mehmet Ali Çiftçi, Nazlı Döktür Efeoğlu, Aliye Erdoğan, Neçirvan Çağdaş Çaltek, Emre Özgen, Ebru Kale
{"title":"Assessment of vitamin B12 and homocysteine levels in pregnant women admitted for delivery and cord blood samples of their newborn babies: a multicenter study.","authors":"Zeynep Yıldız Yıldırmak, Dildar Bahar Genç, Alev Kural, Veli Mıhmanlı, Süleyman Salman, Keziban Doğan, Mehmet Ali Çiftçi, Nazlı Döktür Efeoğlu, Aliye Erdoğan, Neçirvan Çağdaş Çaltek, Emre Özgen, Ebru Kale","doi":"10.24953/turkjpediatr.2024.4545","DOIUrl":"10.24953/turkjpediatr.2024.4545","url":null,"abstract":"<p><strong>Background: </strong>Vitamin B12, an indispensable micronutrient, is pivotal in numerous physiological processes, with particular significance during pregnancy and fetal development. The increasing adoption of vegetarian diets and the economic challenges associated with accessing animal-based food sources contribute to the prevalence of vitamin B12 deficiency. This study aims to examine the levels of vitamin B12 and homocysteine in pregnant women upon admission for delivery and to analyze corresponding cord blood samples from their newborn infants in a substantial sample within the Istanbul metropolitan area.</p><p><strong>Materials and methods: </strong>This cross-sectional multicenter study included women aged ≥16 years admitted for delivery and their newborns ≥34 weeks. The demographic data and the results of complete blood counts within the previous 24 hours before birth were recorded. Vitamin B12 and homocysteine levels were measured in maternal and cord blood samples. The study parameters were compared between the groups based on the mothers' and babies' homocysteine and vitamin B12 levels.</p><p><strong>Results: </strong>The study included 832 pregnant women and 832 neonates. Anemia affected 36% of pregnant women, with a higher frequency in mothers with vitamin B12 deficiency. Seventy-eight mothers and 48.9% of neonates showed Vitamin B12 levels below 200 pg/mL, while elevated homocysteine levels were observed in 30% of mothers and 26% of neonates. Maternal vitamin B12 deficiency was significantly correlated with cord blood B12 deficiency and elevated homocysteine. The median cord blood vitamin B12 level was inversely correlated with the number of previous pregnancies.</p><p><strong>Conclusion: </strong>Vitamin B12 deficiency is extremely common in pregnant women before delivery, significantly correlating to cord blood homocysteine and vitamin B12 levels. However, homocysteine alone is not a reliable marker for maternal vitamin B12 status. Implementing strategies to detect vitamin B12 deficiency and supplying adequate vitamin B12 supplementation during pregnancy holds the potential to enhance maternal and neonatal health in Türkiye.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 4","pages":"429-438"},"PeriodicalIF":0.0,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485116","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
Common viral respiratory infections in children with cancer during the COVID-19 pandemic: a multicenter study from Türkiye. COVID-19 大流行期间癌症患儿的常见呼吸道病毒感染:来自土耳其的一项多中心研究。
The Turkish journal of pediatrics Pub Date : 2024-10-07 DOI: 10.24953/turkjpediatr.2024.4536
Dilek Kaçar, Rejin Kebudi, Derya Özyörük, Deniz Tuğcu, Ayşenur Bahadır, Zeynep Canan Özdemir, Ali Aykan Özgüven, Mehmet Fatih Orhan, Ayşen Türedi Yıldırım, Canan Albayrak, İbrahim Kartal, Neriman Sarı, Hüseyin Tokgöz, Meryem Albayrak, Aylin Canbolat Ayhan, Nilgün Eroğlu, Sultan Aydın, Veysiye Hülya Üzel, Bülent Zülfikar, Ülkü Miray Yıldırım, Mustafa Büyükavcı, Hüseyin Gülen, Ersin Töret, Özcan Bör, Namık Yaşar Özbek, İnci Ergürhan İlhan, Neşe Yaralı
{"title":"Common viral respiratory infections in children with cancer during the COVID-19 pandemic: a multicenter study from Türkiye.","authors":"Dilek Kaçar, Rejin Kebudi, Derya Özyörük, Deniz Tuğcu, Ayşenur Bahadır, Zeynep Canan Özdemir, Ali Aykan Özgüven, Mehmet Fatih Orhan, Ayşen Türedi Yıldırım, Canan Albayrak, İbrahim Kartal, Neriman Sarı, Hüseyin Tokgöz, Meryem Albayrak, Aylin Canbolat Ayhan, Nilgün Eroğlu, Sultan Aydın, Veysiye Hülya Üzel, Bülent Zülfikar, Ülkü Miray Yıldırım, Mustafa Büyükavcı, Hüseyin Gülen, Ersin Töret, Özcan Bör, Namık Yaşar Özbek, İnci Ergürhan İlhan, Neşe Yaralı","doi":"10.24953/turkjpediatr.2024.4536","DOIUrl":"10.24953/turkjpediatr.2024.4536","url":null,"abstract":"<p><strong>Background: </strong>Microbiologic confirmation of respiratory tract infections gained importance during the coronavirus disease 2019 (COVID-19) pandemic. This study retrospectively evaluated seasonal distribution, clinical presentation, and complications of respiratory viral infections (RVIs) other than COVID-19 in children with cancer during and after the pandemic lockdown.</p><p><strong>Methods: </strong>Two hundred and sixty-five inpatient and outpatient RVI episodes in 219 pediatric cancer patients confirmed by multiplex reverse transcriptase polymerase chain reaction (RT-PCR) panels from 13 centers were enrolled.</p><p><strong>Results: </strong>Eighty-six (32.5%) of the total 265 episodes occurred in 16 months corresponding to the lockdowns in Türkiye, and the remaining 67.5% in 10 months thereafter. Human rhinovirus/enterovirus (hRE) (48.3%) was the most common agent detected during and after lockdown. Parainfluenza virus (PIV) (23.0%), influenza virus (9.8%), and respiratory syncytial virus (RSV) (9.1%) were the other common agents. The 28.7% of episodes were lower respiratory tract infections (LRTIs), and complications and mortality were higher than upper respiratory tract infections (URTIs) (25.0% vs 5.3%). Bacteremia was identified in 11.5% of culture-drawn episodes. Treatment delay in one-third and death within four weeks after RVI in 4.9% of episodes were observed.</p><p><strong>Conclusion: </strong>During the pandemic, fewer episodes of RVIs occurred during the lockdown period. Respiratory viruses may cause complications, delays in treatment, and even death in children with cancer. Therefore, increased awareness of RVIs and rapid detection of respiratory viruses will benefit the prevention and, in some cases, abrupt supportive and some antiviral treatment of RVI in children with cancer.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 4","pages":"401-411"},"PeriodicalIF":0.0,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485122","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
Cost-saving approach with screening of selected variants in genetic diagnosis in Turkish pediatric familial Mediterranean fever patients: a single center longitudinal study. 土耳其小儿家族性地中海热患者基因诊断中筛选特定变体的成本节约方法:一项单中心纵向研究。
The Turkish journal of pediatrics Pub Date : 2024-10-07 DOI: 10.24953/turkjpediatr.2024.4580
Betül Sözeri, Şengül Çağlayan, Taner Coşkuner, Yasemin Kendir-Demirkol
{"title":"Cost-saving approach with screening of selected variants in genetic diagnosis in Turkish pediatric familial Mediterranean fever patients: a single center longitudinal study.","authors":"Betül Sözeri, Şengül Çağlayan, Taner Coşkuner, Yasemin Kendir-Demirkol","doi":"10.24953/turkjpediatr.2024.4580","DOIUrl":"10.24953/turkjpediatr.2024.4580","url":null,"abstract":"<p><strong>Background: </strong>The aim of this study was to investigate whether a short exon screening consisting of selected variants could confirm the diagnosis in patients with a preliminary diagnosis of familial Mediterranean fever (FMF), thus providing a cost-saving alternative to a comprehensive MEditerranean FeVer (MEFV) gene sequence analysis test.</p><p><strong>Methods: </strong>This observational study on pediatric patients focused on clinically suspected FMF cases without prior genetic analysis. Participants met the Turkish pediatric FMF criteria. They underwent short exon screening for M694V, M680I, V726A, and E148Q variants. Those who were heterozygous or negative on short exon screening received further MEFV gene sequence analysis.</p><p><strong>Results: </strong>The study involved 1557 patients. Pathogenic variants in both alleles of the MEFV gene were found in 611 patients (39.2%), and a high-penetrance variant in heterozygosity or an E148Q variant on the other allele was found in 643 patients (41.3%). A further 189 patients (12.1%) had one or two E148Q variants. Short-exon screening was negative in 114 patients (7.6%). Of the 876 patients who underwent MEFV gene sequence analysis, additional variants were found in 72 of the 762 initially heterozygous patients. Of the 114 initially negative patients, 34 had homozygous or compound heterozygous variants, and 74 had heterozygous variants. Ultimately, only 6 patients yielded negative results in the MEFV gene sequence analysis.</p><p><strong>Conclusion: </strong>The short exon screening for common MEFV mutations offers a practical and cost-saving alternative to comprehensive MEFV gene sequence analysis in populations with a high prevalence of FMF.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 4","pages":"465-472"},"PeriodicalIF":0.0,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485123","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
Non-syndromic perspective on a unique progressive familial intrahepatic cholestasis variant: ZFYVE19 mutation. 一种独特的进行性家族性肝内胆汁淤积症变异的非综合征视角:ZFYVE19 基因突变
The Turkish journal of pediatrics Pub Date : 2024-10-07 DOI: 10.24953/turkjpediatr.2024.4655
Coşkun Fırat Özkeçeci, Melike Arslan, Edibe Gözde Başaran, Yasin Maruf Ergen, Önder Bozdoğan, Necati Balamtekin
{"title":"Non-syndromic perspective on a unique progressive familial intrahepatic cholestasis variant: <i>ZFYVE19 </i>mutation.","authors":"Coşkun Fırat Özkeçeci, Melike Arslan, Edibe Gözde Başaran, Yasin Maruf Ergen, Önder Bozdoğan, Necati Balamtekin","doi":"10.24953/turkjpediatr.2024.4655","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4655","url":null,"abstract":"<p><strong>Background: </strong>ZFYVE19 mutation has been recently identified as one of the non-syndromic causes of cholestasis. It is associated with elevated gamma-glutamyl transferase levels and is likely a cause of neonatal-onset and intrahepatic cholestasis.</p><p><strong>Case: </strong>Here, we report a rare case of ZFYVE19 defect, confirmed by whole exome sequencing (WES). Our patient, who is currently 4 years old, presented to us at the age of 2 years with elevated levels of serum transaminases and bilirubin. WES revealed a homozygous ZFYVE19 mutation despite preserved synthetic liver function. This gene has recently been identified in the literature as a cause of non-classical progressive familial intrahepatic cholestasis (OMIM # 619849). Treatment with an appropriate dose of ursodeoxycholic acid resulted in the regression of elevated liver enzymes and itching. The patient's body mass index progressively increased throughout the treatment period. No medication side effects were observed at any point. Currently, the patient remains asymptomatic during follow-up.</p><p><strong>Conclusion: </strong>We have identified the ZFYVE19 mutation as a variant that is not accompanied by any other symptoms. However, we have limited knowledge about the progression of the disease and are closely monitoring the patient for potential liver-related issues. Using WES in cases of undiagnosed liver enzyme elevations or cholestasis can help identify new genes and improve our understanding of the underlying pathophysiology.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 4","pages":"505-510"},"PeriodicalIF":0.0,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485127","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
Determination of thiol-disulphide homeostasis in premenstrual syndrome during adolescence. 测定青春期经前期综合征的硫醇-二硫化物平衡状态。
The Turkish journal of pediatrics Pub Date : 2024-10-07 DOI: 10.24953/turkjpediatr.2024.5096
Laden Jaferi, Melis Pehlivantürk Kızılkan, Demet Aygün Arı, Özcan Erel, Sinem Akgül
{"title":"Determination of thiol-disulphide homeostasis in premenstrual syndrome during adolescence.","authors":"Laden Jaferi, Melis Pehlivantürk Kızılkan, Demet Aygün Arı, Özcan Erel, Sinem Akgül","doi":"10.24953/turkjpediatr.2024.5096","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.5096","url":null,"abstract":"<p><strong>Background: </strong>Premenstrual syndrome (PMS) characterized by cyclic symptoms during the luteal phase of the menstrual cycle, presents an uncertain etiology in adolescents involving hormonal fluctuations and serotonin-related neurotransmitters with a limited existing literature on the impact of oxidative stress. This study aimed to explore the potential association between PMS and oxidative stress in adolescents.</p><p><strong>Methods: </strong>In a cross-sectional study conducted at a university hospital, involving 45 adolescent girls aged 12 to 18, participants were categorized based on the presence or absence of PMS using the cut-off point of 110 on the PMS Scale developed by Gençdoğan. Oxidative stress was assessed through dynamic thiol-disulfide homeostasis. The shift from the balance towards disulfide form is associated with oxidative stress, whereas towards thiol it shows a greater antioxidant capacity.</p><p><strong>Results: </strong>Thirty out of the forty-five participants were found to have PMS with a mean age of 15.5 years. The PMS group demonstrated a significant increase in antioxidant markers, specifically elevated native (631.6±57.55 vs 598.2±41.08, p=0.048) and total thiol levels (675.15±3.4 vs 639.3±44.9, p=0.031). Despite a significant increase in thiol, thiol to disulfide ratio was not found to be significant (p=0.849).</p><p><strong>Conclusion: </strong>Contradictory to other studies in adults, we have demonstrated an increase in the antioxidant markers in adolescents with PMS. Elevated antioxidant status in adolescents with PMS may be an adaptive response to acute cyclic inflammation in the adolescent period, which might decrease with the progression of age. Further research is needed to investigate the complex interaction between oxidative stress and PMS across different age groups.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 4","pages":"457-464"},"PeriodicalIF":0.0,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485124","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
Cholecystectomy in children: indications, clinical, laboratory and histopathological findings and cost analysis. 儿童胆囊切除术:适应症、临床、实验室和组织病理学结果及成本分析。
The Turkish journal of pediatrics Pub Date : 2024-10-07 DOI: 10.24953/turkjpediatr.2024.4921
Aysel Ünlüsoy Aksu, Nebiyye Genel, Gülseren Şahin, Ferda Özbay Hoşnut, Ayşegül Tok, Ayşe Karaman
{"title":"Cholecystectomy in children: indications, clinical, laboratory and histopathological findings and cost analysis.","authors":"Aysel Ünlüsoy Aksu, Nebiyye Genel, Gülseren Şahin, Ferda Özbay Hoşnut, Ayşegül Tok, Ayşe Karaman","doi":"10.24953/turkjpediatr.2024.4921","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4921","url":null,"abstract":"<p><strong>Background: </strong>The most common indication for cholecystectomy in children is cholelithiasis, and routine histopathological examination is performed on all gallbladder specimens. Currently, selective histopathological examination is suggested instead of routine examination due to the low frequency of gallbladder cancer in adults. The purpose of this study was to evaluate the indications, clinical, laboratory and histopathological findings of the cholecystectomy in children. We also questioned the contribution and cost-effectiveness of routine histopathological evaluation in diagnosis and treatment.</p><p><strong>Methods: </strong>A total of 114 children underwent cholecystectomy between the years 2008 and 2022. The clinical findings, laboratory, and imaging results of the patients and histopathological findings of the gallbladder specimens were evaluated retrospectively.</p><p><strong>Results: </strong>Cholelithiasis were diagnosed in 71%, choledochal malformation in 15.8%, hydrops of gallbladder and/or biliary sludge in 12.3%, and hypoplasia of gallbladder in 0.9% of the patients. Histopathologically significant findings were observed in only 3 patients (2.6%); adenomyomatosis in 2 and angiodysplasia and pyloric metaplasia in 1. While the cost of a cholecystectomy and histopathologic examination combined amounted to 27.77% of the minimum wage in Türkiye in 2024, the histopathologic examination alone constitutes just 0.67% of the minimum wage and 2.4% of the operation fee.</p><p><strong>Conclusion: </strong>In children undergoing cholecystectomy, histopathological examination does not provide any significant contribution to the patient's diagnosis and follow-up management. In children, selective gallbladder histopathological examination might reduce health costs and save time for pathologists.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 4","pages":"473-480"},"PeriodicalIF":0.0,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485120","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信