D Gunes, M Karaca, A Durmus, B Ak, N Aktay Ayaz, Z U Altınel, A D Aslanger, F Atalar, M C Balci, L Bilgin, F Darendeliler, D Demirkol, O Durmaz, A Gedikbasi, E Inan Balci, E Z Ince, S G Karadag, G Keskindemirci, K Nisli, M Ozcetin, A Somer, A Unuvar, M Uysalol, E Yildiz, Z N Yuruk Yildirim, M Demirkol, G F Gokcay
{"title":"Challenges in the clinical management of rare diseases and center-based multidisciplinary approach to creating solutions.","authors":"D Gunes, M Karaca, A Durmus, B Ak, N Aktay Ayaz, Z U Altınel, A D Aslanger, F Atalar, M C Balci, L Bilgin, F Darendeliler, D Demirkol, O Durmaz, A Gedikbasi, E Inan Balci, E Z Ince, S G Karadag, G Keskindemirci, K Nisli, M Ozcetin, A Somer, A Unuvar, M Uysalol, E Yildiz, Z N Yuruk Yildirim, M Demirkol, G F Gokcay","doi":"10.1007/s00431-025-06101-z","DOIUrl":"10.1007/s00431-025-06101-z","url":null,"abstract":"<p><p>The diagnosis and treatment of rare diseases present significant global challenges. This study aimed to identify the difficulties faced by specialists in the diagnosis and management of rare diseases, as well as to gather their recommendations for potential solutions. An expert committee specializing in inborn metabolic disease and genetics developed a comprehensive survey, which was then distributed online to professionals working with rare diseases. A total of 21 specialists actively engaged in the management of rare diseases participated in the survey. All participants acknowledged the substanstial significant diagnostic challenges associated with rare diseases, with 86% indicating that these diagnostic challenges negatively affect their clinical practice. The primary obstacles encountered in the diagnosis and follow-up of rare diseases were low awareness, a lack of a multidisciplinary approach, insufficient numbers of specialists and inadequate infrastructure, limited newborn screening programs, challenges in accessing treatment, and insufficient psychosocial support. All participants emphasized the need for a multidisciplinary approach in the management of rare diseases. Proposed solutions included enhanced training for healthcare professionals, the establishment of multidisciplinary teams and diagnostic algorithms, the regular convening of councils and meetings, and the establishment of robust registries. While all participants rated their own clinical experience as proficient in diagnosing and treating rare diseases, the establishment of multidisciplinary teams was the most frequently suggested area for improvement.</p><p><strong>Conclusion: </strong>Addressing the challenges in the diagnosis, treatment, and monitoring of rare diseases requires a multifaceted approach, including raising awareness, enhancing patient services, developing robust research and improving the infrastructure, establishing multidisciplinary care frameworks, and implementing preventive medicine and social policies.</p><p><strong>What is known: </strong>• It is estimated that over 300 million people globally are living with one or more rare diseases. The process of diagnosis, treatment, and follow-up of rare diseases involves significant global challenges.</p><p><strong>What is new: </strong>• In our study, the difficulties encountered by specialists in the diagnosis and treatment of rare diseases in Türkiye and solution suggestions are presented. This is the first study on this subject in Türkiye.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 5","pages":"281"},"PeriodicalIF":3.0,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11972228/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143788150","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Teresa Fernandez Moreno, Aleksandra Kołcz, Maria Qaheri, Dawid Lewandowski, Artur Sulik, Kacper Toczyłowski
{"title":"Campylobacter and Salmonella infections in children hospitalized with gastroenteritis in Northeastern Poland, 2020-2023.","authors":"Teresa Fernandez Moreno, Aleksandra Kołcz, Maria Qaheri, Dawid Lewandowski, Artur Sulik, Kacper Toczyłowski","doi":"10.1007/s00431-025-06122-8","DOIUrl":"10.1007/s00431-025-06122-8","url":null,"abstract":"<p><p>This study aimed to investigate the epidemiology, seasonal trends, and clinical characteristics of Campylobacter and Salmonella infections in children hospitalized with acute gastroenteritis (AGE) in Northeastern Poland from 2020 to 2023. The research sought to address the scarcity of localized data on these bacterial pathogens and identify key clinical and demographic markers to improve diagnostic and therapeutic strategies. A retrospective analysis was conducted on medical records of children aged 0-17 years hospitalized at the Bialystok Children's Clinical Hospital. Stool samples were systematically collected and tested for bacterial pathogens following World Health Organization guidelines. Confirmed cases of Campylobacter and Salmonella infections were analyzed for demographic, clinical, and laboratory characteristics. Among 3,392 hospitalized children with acute gastroenteritis, bacterial pathogens were identified in 560 cases, with Campylobacter (33%) and Salmonella (32%) being the most common. A slight male predominance was noted across both pathogens. Salmonella infections were associated with significantly greater clinical severity, characterized by longer duration of diarrhea, higher frequency of vomiting, more persistent fever, greater dehydration, notably elevated inflammatory markers and longer hospital stays compared to Campylobacter. Campylobacter was notably more prevalent among children younger than 2 years. Seasonal peaks for both pathogens consistently occurred during the summer months.</p><p><strong>Conclusion: </strong>Campylobacter and Salmonella are significant contributors to bacterial AGE in children, with distinct clinical and demographic profiles. Public health measures and enhanced diagnostics are critical to reducing the burden of these infections, particularly among younger and vulnerable children.</p><p><strong>What is known: </strong>• Campylobacter and Salmonella are leading causes of pediatric gastroenteritis globally, with seasonal variation and clinical severity differences.</p><p><strong>What is new: </strong>• In Northeastern Poland, Campylobacter and Salmonella cause similar numbers of pediatric AGE hospitalizations, despite official reports suggesting low Campylobacter incidence. • Salmonella infections are significantly more severe clinically, yet Campylobacter infections commonly affect children of all ages, including infants as young as 2 months.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 5","pages":"280"},"PeriodicalIF":3.0,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779309","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Early discontinuation of steroid treatment in children with abdominal pain due to IgA vasculitis.","authors":"Sumika Kambara, Nobuhiro Nishio, Yuichiro Sugiyama, Yosuke Nishio, Yukina Takamoto, Fumie Kitai, Yuma Takahashi, Nozomi Hayashi, Kazunori Haruta, Maki Kondo, Naoko Oike, Takeshi Miwa, Nobuhiro Watanabe, Marei Omori, Fumie Kinoshita, Taiki Furukawa, Jun-Ichi Kawada, Hiroyuki Kidokoro, Yoshiaki Sato, Yoshiyuki Takahashi","doi":"10.1007/s00431-025-06107-7","DOIUrl":"10.1007/s00431-025-06107-7","url":null,"abstract":"<p><p>This study aims to evaluate the impact of early steroid discontinuation on total dosage and outcomes in pediatric immunoglobulin A (IgA) vasculitis patients with uncontrolled abdominal pain. This retrospective cohort study included children younger than 16 years with newly diagnosed IgA vasculitis hospitalized for abdominal pain who received their first dose of steroids between April 1, 2013, and March 31, 2019, at 14 hospitals. Patients were divided into two groups: the standard (STD) group, which received steroid therapy for at least 8 consecutive days, and the early discontinuation attempt (EDA) group, which attempted discontinuation within 7 days. EDA was further divided into two subgroups: the early discontinuation (ED) group, which completed steroid treatment within a week, and the readministration (RA) group, which required readministration. Total steroid dosage, duration of therapy, hospital stay, and complications were compared. A total of 272 patients were analyzed: STD (n = 190) and EDA (n = 82). There were no significant differences in baseline characteristics. EDA had a shorter hospital stay (8.5 vs. 15.0 days, p < 0.01), fewer total steroid days (6 vs. 17.5 days, p < 0.01), and lower total steroid dosage (5.4 mg/kg vs. 15.4 mg/kg, p < 0.01) compared to STD, with no significant differences in complications. Among EDA patients, 22 (27%) required steroid readministration due to symptom recurrence; however, symptoms resolved in all RA patients, with lower total steroid dosage and duration compared to STD, without prolonging hospital stay. Conclusion: Discontinuing steroids within 7 days for abdominal pain in children with IgA vasculitis reduces total steroid dosage without increasing complications, even with occasional readministration. Clinical trial registration: Approval no. 2019-0394.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 5","pages":"279"},"PeriodicalIF":3.0,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11971167/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779310","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Dekel Avital, Iris Noyman, Jacob Bistritzer, Aviv Goldbart, Guy Hazan, Yasmine Langman, Oren Ziv, Itai Hazan, Inbal Golan-Tripto
{"title":"High prevalence of epilepsy in pediatric patients with obstructive sleep apnea-a large-scale cross-sectional study.","authors":"Dekel Avital, Iris Noyman, Jacob Bistritzer, Aviv Goldbart, Guy Hazan, Yasmine Langman, Oren Ziv, Itai Hazan, Inbal Golan-Tripto","doi":"10.1007/s00431-025-06105-9","DOIUrl":"10.1007/s00431-025-06105-9","url":null,"abstract":"<p><p>The purpose of the study is to evaluate the prevalence of epilepsy in children with surgically treated obstructive sleep apnea (OSA) and examine the associated healthcare utilization. This cross-sectional study included children aged 1-18 years diagnosed with moderate to severe OSA who were treated with adenoidectomy or adenotonsillectomy. A matched control group (1:3 ratio) without OSA was used for comparison. Data were obtained from Clalit Health Services, Israel's largest healthcare provider. The study analyzed the prevalence of epilepsy, hospital admissions for seizures, use of anti-seizure medications (ASMs), and outpatient visits to pediatric neurologists. Among 55,164 children (13,791 in the OSA group and 41,373 in the control group), the prevalence of epilepsy was higher in the OSA group (0.9% vs. 0.4%; odds ratio (OR) = 2.22, p < 0.001). The OSA group also exhibited higher rates of ASM use (1.1% vs. 0.5%; OR = 2.24, p < 0.001), emergency department visits (OR = 15.66, p < 0.001), hospital admissions (OR = 3.18, p < 0.001), and visits to pediatric neurologists (14% vs. 8.1%; OR = 1.85, p < 0.001). The usage of ASMs was significantly higher in the OSA group, particularly for levetiracetam (OR = 3.73, p < 0.001).</p><p><strong>Conclusion: </strong>Children with surgically treated OSA had higher rates of epilepsy and greater healthcare utilization compared to their peers. These findings underscore the necessity for integrated care, including neurological assessments, for children with OSA. Further research is needed to examine the impact of OSA treatment on epilepsy outcomes.</p><p><strong>What is known: </strong>• Obstructive sleep apnea (OSA) and epilepsy are prevalent neurological conditions in children, with evidence suggesting a bidirectional relationship between sleep disorders and epilepsy in adults. • OSA prevalence is notably higher in children with refractory epilepsy or those prescribed multiple anti-seizure medications (ASMs).</p><p><strong>What is new: </strong>• This study demonstrates a twofold increase in epilepsy prevalence among children with surgically treated moderate-to-severe OSA compared to matched controls. • Pediatric patients with OSA exhibit significantly higher rates of epilepsy-related healthcare utilization, including hospital admissions, emergency visits, and consultations with pediatric neurologists.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 5","pages":"278"},"PeriodicalIF":3.0,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143771677","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Usefulness of urinary β2-microglobulin for diagnosing acute focal bacterial nephritis.","authors":"Kisho Shimura, Ryosuke Fukushima, Takuma Sakon","doi":"10.1007/s00431-025-06106-8","DOIUrl":"10.1007/s00431-025-06106-8","url":null,"abstract":"<p><p>In this study, we aimed to evaluate the usefulness of urinary β2-microglobulin (U-β2MG) for diagnosing acute focal bacterial nephritis (AFBN) among upper urinary tract infections (UTIs). This retrospective study was performed at a single institution and included patients younger than 16 years of age diagnosed with upper UTIs. Patients were divided into the AFBN group and acute pyelonephritis (APN) group. Levels of U-β2MG corrected using urinary creatinine (U-β2MG/Ucre) were compared between groups. A multiple regression analysis was performed using Log(U-β2MG/Ucre) as a dependent factor and the diagnosis (AFBN or APN), age, sex, hydronephrosis grade, urinary pH, and fever interval before admission as independent factors. To discriminate AFBN and APN, thresholds of U-β2MG/Ucre and C-reactive protein (CRP) levels were measured using the receiver-operating characteristic curve. Nineteen patients and 37 patients with AFBN and APN, respectively, were analyzed. The U-β2MG/Ucre level differed significantly between the AFBN and APN groups (10762 μg/gCr vs. 1525 μg/gCr, respectively; P = 0.007). The multiple regression analysis indicated that the Log(U-β2MG/Ucre) value of the AFBN group was considerably higher than that of the APN group (P = 0.004). The threshold values of U-β2MG/Ucre and CRP levels were 2070 μg/gCr and 5.7 mg/dL, respectively. Sensitivity and specificity were 0.95 and 0.68, respectively, when both thresholds were used.Conclusions: The U-β2MG/Ucre level of patients with AFBN was significantly higher than that of patients with APN. Therefore, U-β2MG/Ucre could be used to discriminate between AFBN and APN. What is Known: • U-β2MG can aid in discriminating between upper and lower UTIs; however, using both U-β2MG and procalcitonin allows for more accurate differentiation What is New: • U-β2MG may be useful for discriminating between AFBN and APN in upper UTIs. Assessing both U-β2MG and CRP levels may improve the diagnosis of AFBN without invasive imaging tests.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 5","pages":"276"},"PeriodicalIF":3.0,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763357","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Effectiveness of duodenal bulb biopsies in histological diagnosis of coeliac disease.","authors":"M Ahmed, T Tolufase, P Gill, M I Sayed","doi":"10.1007/s00431-025-06113-9","DOIUrl":"10.1007/s00431-025-06113-9","url":null,"abstract":"<p><p>Coeliac disease is an autoimmune condition with variable presentation which leads to difficulties and delays in diagnosis. A retrospective study was undertaken to investigate the effectiveness of duodenal bulb biopsies in histologic diagnosis of coeliac disease. Histology specimens were analysed from 230 patients, age ranging from 0 to 16 years over a 10-year period (2014-2024) who had raised tissue transglutaminase/endomysial antibodies and were referred for an upper gastrointestinal endoscopy to confirm/rule out coeliac disease. Biopsies taken from the proximal (D1) and distal duodenum (D2, 3, 4) were compared in 145 children who were confirmed to have the diagnosis of coeliac disease on histopathology. The results revealed that a significant number of children (56/145; 38.6%) had positive histological changes seen in proximal duodenum only with completely normal histology in distal duodenum. In comparison, only 4/145 (2.8%) children yielded positive histology result from distal duodenum with normal proximal duodenal biopsies. Proximal duodenal segment histology samples therefore had the highest sensitivity (97%), negative predictive value (95.5%), and accuracy (98%).</p><p><strong>Conclusion: </strong> Our fundings re-enforce the importance of obtaining an adequate number of proximal duodenal samples for histological analysis in children investigated for coeliac disease in order to avoid delayed or missed diagnosis in this age group.</p><p><strong>What is known: </strong>• Coeliac disease affects 1-2% of western population though prevalence varies by the region. • A sub-set of suspected cases with anti-tissue transglutaminase (TTG) antibody titres of less than ten times the upper limit of normal require duodenal biopsies for confirmation of diagnosis.</p><p><strong>What is new: </strong>• Duodenal bulb biopsies have higher sensitivity and negative predictive value when compared to distal duodenal biopsies. • Endoscopist must obtain adequate number of samples from proximal duodenum (duodenal bulb) to avoid false negative results.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 5","pages":"277"},"PeriodicalIF":3.0,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143771654","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ren Changhong, Liu Ming, Zhou Anna, Zhou Ji, Zhuo Xiuwei, Tian Xiaojuan, Yang Xinying, Gong Shuai, Fang Fang, Ren Xiaotun, Zhang Weihua
{"title":"Myelin oligodendrocyte glycoprotein antibody-associated meningoencephalitis without cerebral parenchyma involvement on MRI: A single-centre paediatric cohort study.","authors":"Ren Changhong, Liu Ming, Zhou Anna, Zhou Ji, Zhuo Xiuwei, Tian Xiaojuan, Yang Xinying, Gong Shuai, Fang Fang, Ren Xiaotun, Zhang Weihua","doi":"10.1007/s00431-025-06071-2","DOIUrl":"10.1007/s00431-025-06071-2","url":null,"abstract":"<p><p>Since meningoencephalitis with prominent meningeal involvement was first described as a rare phenotype of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD), sporadic cases have been reported. However, most of the reports were case reports and small sample cohorts. We conducted a retrospective analysis of paediatric patients with MOG antibody-associated meningoencephalitis without cerebral parenchyma involvement on imaging at Beijing Children's Hospital between 2017 and 2024. Upon reviewing the records of 320 MOG antibody-positive paediatric patients in our centre, we identified 18 (6%) patients (median age, 7.2 years; female, 10) with disease onset. The common clinical symptoms were fever (94%), headache (56%), seizure (44%) and vomiting (44%). Most patients had leukocytosis (78%) and elevated ESR and CRP levels (61%). Cerebrospinal fluid analysis revealed intracranial hypertension (28%), leukocytosis (100%) and elevated protein levels (33%). Negative cranial magnetic resonance images were observed in 4 patients, and meningeal enhancement was observed in 14 patients. Fourteen patients showed no improvement with antibiotic therapy but responded effectively to immunotherapy. After a median follow-up of 22 months, 4 (22%) of the 18 patients experienced relapse. At the time of the last follow-up, all patients had a good prognosis (mRS < 2). Conclusion: Meningoencephalitis without parenchymal involvement on MRI represents an underrecognized MOGAD phenotype. The incorporation of this entity into diagnostic criteria and the initiation of early immunotherapy could increase diagnostic sensitivity and reduce relapse risk in children.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 5","pages":"275"},"PeriodicalIF":3.0,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763354","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tianqi Liang, Chunfu Li, Yun Chen, Yuelin He, Chun Chen, Sa Zong, Haoran Tang, Yanru Pei, Dan Yue, Yuming Zhao, Yong Liu, Zhiyong Peng
{"title":"A novel conditioning regimen involving haploid immune cell infusion combined with umbilical cord blood transplantation for the treatment of juvenile myelomonocytic leukemia.","authors":"Tianqi Liang, Chunfu Li, Yun Chen, Yuelin He, Chun Chen, Sa Zong, Haoran Tang, Yanru Pei, Dan Yue, Yuming Zhao, Yong Liu, Zhiyong Peng","doi":"10.1007/s00431-025-06109-5","DOIUrl":"10.1007/s00431-025-06109-5","url":null,"abstract":"<p><p>Juvenile myelomonocytic leukemia (JMML) is a rare and highly malignant hematological tumor that occurs in children. Allogeneic hematopoietic stem cell transplantation remains the primary treatment for the vast majority of children with JMML. However, busulfan-based myeloablative conditioning regimens do not effectively solve the problem of low survival and high recurrence rates after transplantation. We previously achieved good results in the treatment of JMML with complementary transplantation and found that only one of the five patients who relapsed had umbilical cord blood (UCB) engraftment (blood 2019 134:4181). To further investigate the feasibility of UCB transplantation in JMML, we developed a novel regimen and performed a long-term follow-up analysis to evaluate its effectiveness and safety. In this multicenter, single-arm, retrospective clinical study, 17 children with JMML were treated with a novel regimen consisting of haploid immune cell infusion combined with UCB transplantation. After a median follow-up of 48 months, relapse was observed in 1 in 17 patients, with a cumulative relapse incidence rate of 6.7%. The 5-year overall and event-free survival rates were 87.4% and 82.4%, respectively. Among the included patients, seven experienced grade II-IV acute graft-versus-host disease (GVHD), including two patients with grade III-IV acute GVHD, resulting in cumulative incidence rates of 41.0% and 11.8%, respectively. Additionally, a total of two patients in the cohort developed chronic GVHD, and the cumulative incidence of chronic GVHD at 5 years was 11.8%. Conclusion: Our results suggest that, combined with a suitable regimen, UCB transplantation may be an effective and safe option for the treatment of JMML.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 5","pages":"274"},"PeriodicalIF":3.0,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sohier Yahia, Nanees A Salem, Salwa Tobar, Zahraa Abdelmoneim, Ahmed Magdy Mahmoud, Wafaa Laimon
{"title":"Shedding light on eating disorders in adolescents with type 1 diabetes: insights and implications.","authors":"Sohier Yahia, Nanees A Salem, Salwa Tobar, Zahraa Abdelmoneim, Ahmed Magdy Mahmoud, Wafaa Laimon","doi":"10.1007/s00431-025-06081-0","DOIUrl":"10.1007/s00431-025-06081-0","url":null,"abstract":"<p><p>Eating disorders (EDs) are complex medical conditions that pose a considerable health burden for individuals with type 1 diabetes mellitus (T1DM). EDs in individuals with T1DM are linked to poor metabolic control, which heightens the risk of diabetes complications. Consequently, regular screening for EDs is essential. This study investigates the prevalence of EDs in adolescents with T1DM, investigating the associations with diabetes duration, pubertal stage, glycemic control, and diabetes-related complications. In this cross-sectional study, 350 adolescents (155 males, 195 females) with T1DM, aged 12-18, were recruited from Mansoura University Children's Hospital. Participants completed the Diabetes Eating Problem Survey-Revised (DEPS-R) questionnaire, with scores ≥ 20 prompting clinical interviews to confirm EDs. Clinical data, including HbA1c, BMI, and body composition, were analyzed. Socioeconomic status (SES) and family factors were assessed. The prevalence of EDs was 22.6%, including other specified feeding or eating disorders (OSFED) (68.4%), binge eating (11.4%), bulimia nervosa (7.6%), avoidant restrictive (7.6%), and anorexia nervosa (5.1%). Binary logistic regression analysis showed that the significant predictors of ED in the study cohort were diabetes duration (OR = 1.75 (1.66-1.84), p < 0.001), and HbA1c (OR = 5.94 (2.4-14.6), p < 0.001). Conclusions: Adolescents with EDs had higher (SES), more family conflicts, longer diabetes duration, and were more prone to diabetic nephropathy and poor glycemic control. Screening for EDs is recommended from pre-adolescence through early adulthood. What Is Known: • Adolescents with T1DM are more vulnerable to develop EDs compared to their peers without T1DM What Is New: • The DEPS-R and DSM-V were useful clinical tools for screening and for diagnosis of EDs respectively among adolescents with T1DM • We advise to screen for EDs in adolescents with T1DM who aged around 13.6 years, at Tanner stage 3, with duration of T1DM >5 years, and/or with HbA1c >7.5.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 4","pages":"272"},"PeriodicalIF":3.0,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11958379/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751745","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Camie Thys, Patricia Devos, Liesbet Goubert, Sophie Van Lancker, Fleur Baert, Chiara Roebben, Catharina Dhooge, Victoria Bordon
{"title":"Healing bonds: the complex experiences of pediatric sibling stem cell donors.","authors":"Camie Thys, Patricia Devos, Liesbet Goubert, Sophie Van Lancker, Fleur Baert, Chiara Roebben, Catharina Dhooge, Victoria Bordon","doi":"10.1007/s00431-025-06094-9","DOIUrl":"10.1007/s00431-025-06094-9","url":null,"abstract":"<p><p>Previous research has explored the experiences of sibling pediatric stem cell donors; gaps remain, particularly regarding children and adolescents in Belgium who donate to severely ill siblings. This study examines their personal and relational experiences through qualitative analysis. Semi-structured interviews with 13 donors revealed a mix of eagerness and obligation-while they were willing to help, many felt they had no choice and were often overlooked. Findings highlight a lack of post-donation support and the need for greater recognition of donors' experiences. Despite improvements in pre-donation care, enhanced post-donation support remains crucial. A structured, personalized approach is recommended.Conclusion: Enhanced post-donation support is essential to address the emotional and psychological impact on sibling donors. Further research should explore how donor age and recipient outcomes shape the donation experience.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 4","pages":"273"},"PeriodicalIF":3.0,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}