Pub Date : 2024-10-07DOI: 10.24953/turkjpediatr.2024.4529
Safiye Suna Çelen, Suleimen Zhumatayev, Koray Yalçın, Manolya Kara, Murat Sütçü, Gülsün Karasu, M Akif Yeşilipek
Background: 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.
Materials and methods: 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.
Results: 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.
Conclusion: 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.
{"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}
Pub Date : 2024-10-07DOI: 10.24953/turkjpediatr.2024.4817
Doğan Barut, Bora Kunay, Sema Yıldırım Arslan, Gözde Kayalı Akkuş, Zümrüt Şahbudak Bal, Pınar Yazıcı, Miray Karakoyun, Sema Aydoğdu
Background: Cryptococcus neoformans causes cryptococcosis, primarily affecting immunocompromised individuals, including solid-organ transplant recipients, and, less frequently, immunocompetent people.
Case: 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.
Conclusion: 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.
背景:新型隐球菌会引起隐球菌病,主要影响免疫力低下者,包括实体器官移植受者,也较少影响免疫力正常者:一名患有先天性肝纤维化、门静脉高压和肝硬化的 15 岁男性接受了正位肝移植手术。他在围手术期接受了抗菌和抗真菌预防治疗,并继续接受免疫抑制治疗。移植后30个月,他出现发热、高血压和骶髂关节疼痛。外周血培养显示有新霉菌,经全真菌聚合酶链反应测定和乳胶凝集试验证实。尽管最初使用静脉注射氟康唑进行治疗,但他的病情恶化,不得不因急性缺氧性呼吸衰竭而插管。磁共振成像和计算机断层扫描显示,他患上了伴有淋巴结炎的播散性隐球菌病,可能还伴有脑膜炎和肺炎。治疗升级为静脉注射两性霉素 B 脂质体和 5-氟尿嘧啶,同时减少免疫抑制治疗。尽管第 10 天真菌培养呈阴性,但患者病情恶化,出现胰腺炎、肺炎和大量消化道出血,最终在住院第 35 天死亡:本病例显示了治疗小儿肝移植受者播散性隐球菌病的严重性和复杂性。积极治疗和早期识别对于改善这些高危患者的预后至关重要。
{"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}
Pub Date : 2024-10-07DOI: 10.24953/turkjpediatr.2024.4512
Nilgün Kurucu, Tezer Kutluk, İbrahim Kartal, Şule Yeşil, Özge Vural, Oğuz S Dinçer, Mehmet Ceyhan
Background: 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.
Methods: 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.
Conclusions: 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.
Pub Date : 2024-10-07DOI: 10.24953/turkjpediatr.2024.5072
Yongan Ni, Lei Li, Yuping Wang, Lirong Sun
Background: Aggressive natural killer cell leukemia (ANKL) is rare and difficult to diagnose in early stages, with no standard treatment and a poor prognosis.
Case presentation: 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.
Conclusions: 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.
{"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}
Pub Date : 2024-10-07DOI: 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
Background: 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.
Materials and methods: 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.
Results: 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.
Conclusion: 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.
{"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}
Pub Date : 2024-10-07DOI: 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
Background: 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.
Methods: 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.
Results: 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.
Conclusion: 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.
{"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}
Background: 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.
Methods: 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.
Results: 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.
Conclusion: 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.
{"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}
Background: 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.
Case: 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.
Conclusion: 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.
{"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}
Background: 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.
Methods: 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.
Results: 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).
Conclusion: 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.
背景:经前期综合征(PMS)的特点是在月经周期的黄体期出现周期性症状,其病因在青少年中并不明确,涉及荷尔蒙波动和血清素相关神经递质,而有关氧化应激影响的现有文献有限。本研究旨在探讨经前期综合征与青少年氧化应激之间的潜在联系:在一家大学医院进行的一项横断面研究中,45 名 12 至 18 岁的少女参加了研究。根据 Gençdoğan 开发的经前期综合征量表,以 110 为分界点,对参与者进行经前期综合征存在与否的分类。氧化应激通过动态硫醇-二硫平衡进行评估。二硫平衡的变化与氧化应激有关,而硫醇平衡的变化则显示出更强的抗氧化能力:45 名参与者中有 30 人患有经前综合征,平均年龄为 15.5 岁。经前综合征组的抗氧化指标明显增加,特别是原生硫醇水平(631.6±57.55 vs 598.2±41.08,p=0.048)和总硫醇水平(675.15±3.4 vs 639.3±44.9,p=0.031)升高。尽管硫醇含量明显增加,但硫醇与二硫化物的比值并不明显(p=0.849):结论:与其他针对成人的研究不同,我们发现患有经前期综合征的青少年体内的抗氧化标志物有所增加。经前期综合征青少年患者抗氧化状态的升高可能是对青春期急性周期性炎症的一种适应性反应,这种反应可能会随着年龄的增长而降低。我们需要进一步研究氧化应激与经前综合征之间在不同年龄段的复杂相互作用。
{"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}
Background: 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.
Methods: 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.
Results: 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.
Conclusion: 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.
{"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}