Klinische Padiatrie最新文献

{"title":"Renal Outcomes in Children with Neurogenic Bladder: Anatomical and Urodynamic Determinants Beyond Uropathogen Type.","authors":"Derya Yayla, Gunes Isik","doi":"10.1055/a-2907-7807","DOIUrl":"10.1055/a-2907-7807","url":null,"abstract":"<p><strong>Background: </strong>In children with neurogenic bladder, urine cultures and uropathogen patterns often guide treatment decisions. Whether these patterns add to renal risk beyond established anatomical and urodynamic factors is unclear.</p><p><strong>Patients: </strong>Retrospective cohort of 151 children with neurogenic bladder followed between November 2023 and March 2025. Contaminated urine cultures were excluded from primary multivariable analyses.</p><p><strong>Method: </strong>Uropathogen category (E. coli, Proteus spp., other Gram-negative organisms) was modelled together with high-grade vesicoureteral reflux, ultrasonographic megaureter, bladder wall thickness, and maximum filling detrusor pressure (Pdet). Renal injury was defined as advanced DMSA scarring (score≥3) and reduced function (eGFR<90 mL/min/1.73 m²). Multivariable logistic regression was used.</p><p><strong>Results: </strong>Megaureter independently predicted advanced scarring (OR 5.86; 95% CI 1.73-19.87; p=0.005). Higher Pdet was independently associated with reduced eGFR (OR 1.41 per 10 mmHg; 95% CI 1.10-1.82; p=0.007). Uropathogen category was not independently associated with renal injury.</p><p><strong>Discussion: </strong>In pediatric neurogenic bladder, renal vulnerability is driven mainly by pressure and by upper tract anatomy rather than by uropathogen identity.</p><p><strong>Conclusion: </strong>The findings suggest that pressure-related factors may contribute more strongly to renal injury than the isolated pathogen itself. Long-term renal protection should prioritize storage pressure control and upper tract drainage.</p>","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148391264","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Congenital HHV-6 Encephalitis in a Neonate With DiGeorge Syndrome.","authors":"Gülmelek Duranoğlu, Betül Şahan, Aslıhan Köse Çetinkaya, Seray Öztürk, Buse Önen Ocak, Gökçen Meral, Nazmiye Bengü Karaçağlar, Abdullah Kurt, Sevim Ünal, Hayriye Gözde Kanmaz Kutman, Tuğba Erat","doi":"10.1055/a-2907-9172","DOIUrl":"https://doi.org/10.1055/a-2907-9172","url":null,"abstract":"","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148536122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"PTCH1-Related Gorlin Syndrome: Expanding the Clinical and Molecular Spectrum in a Cohort of 11 Patients.","authors":"Ayşe Burcu Doğan Arı, Büşra Çavdarlı, Gülay Güleç Ceylan, Selma Çakmakcı, Esra Kılıç","doi":"10.1055/a-2896-4106","DOIUrl":"https://doi.org/10.1055/a-2896-4106","url":null,"abstract":"<p><strong>Background: </strong>Gorlin syndrome (GS, MIM #109400) is a cancer predisposition syndrome characterized by macrocephaly, odontogenic keratocysts, calcification of the falx cerebri, basal cell carcinoma, and medulloblastoma. It is caused by pathogenic variants in the <i>PTCH1</i> and <i>SUFU</i> genes.</p><p><strong>Patients and methods: </strong>We evaluated the clinical and molecular features of 11 patients with GS using single-gene testing, multigene panel analysis, and clinical exome sequencing.</p><p><strong>Results: </strong>All patients exhibited characteristic craniofacial features. Macrocephaly was observed in 10 patients (90.9%) and odontogenic keratocysts in nine patients (81.8%). Palmar pits and falx cerebri calcification were observed in eight patients (72.7%). Basal cell carcinoma occurred in four patients (36.3%), and medulloblastoma in two (18.2%). GS was clinically suspected based on the observed clinical and radiological findings in all patients. Seven distinct heterozygous pathogenic <i>PTCH1</i> variants were identified, four of which were novel. One patient had a dual diagnosis of L-2-hydroxyglutaric aciduria.</p><p><strong>Discussion: </strong>These findings underscore the marked phenotypic variability of PTCH1-related GS. Due to age-dependent clinical manifestations, patients require regular long-term surveillance and comprehensive clinical assessment.</p><p><strong>Conclusion: </strong>Molecular confirmation of the diagnosis is important for the provision of genetic counselling, consideration of preimplantation genetic diagnosis, and appropriate patient follow-up and treatment planning.</p>","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148471401","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Parental satisfaction with home monitoring in children with complex congenital heart diseases (CCHD): A cross-sectional study].","authors":"Pia Fabienne Aschenbrenner, Melisa Kaya","doi":"10.1055/a-2888-1048","DOIUrl":"https://doi.org/10.1055/a-2888-1048","url":null,"abstract":"<p><strong>Background: </strong>Complex congenital heart disease requires specialized care and intensive support for families during infancy. The home monitoring program bridges the gap between inpatient and outpatient care. The aim of the study was to evaluate parental acceptance and satisfaction.</p><p><strong>Patients: </strong>Infants and young children (0-1 year) with complex congenital heart diseases.</p><p><strong>Methods: </strong>From November to December 2024, 201 parents from the DACH region were surveyed using an online questionnaire. Sociodemographic information, experiences with home monitoring, additional medical measures, support services and suggestions for improvement were recorded. 167 valid data sets were evaluated descriptively and using chi-square tests.</p><p><strong>Results: </strong>80.8% of parents were very satisfied. The accessibility of the facility (85.0%) and contact with the physician (85.6%) were rated particularly positively. 79.6% reported an increased sense of security, 70.7% reported a contribution to their child's health, and 52.7% reported a reduction in their own stress levels. Follow-up care (55.1%) and family support (34.1%) were frequently used as additional support services. Suggestions for improvement mainly concerned digital solutions.</p><p><strong>Discussion: </strong>The results illustrate the benefits of HM and show new findings as well as parallels to international studies. The HM should be further developed through digital methods.</p><p><strong>Conclusion: </strong>Home monitoring is predominantly viewed positively by most families and, according to parents, improves their children's safety and health.</p>","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148447788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Rare Cause of Severe Airway Stenosis in a Child: Neurofibromatosis Type 1 Associated Laryngeal Neurofibroma.","authors":"Gülten Nisa Nas Karasan, Merve Havan, Ayşen Durak Aslan, Serap Teber Tıras, Zahide Ç Büyükatalay Yaldız, Tanıl Kendirli","doi":"10.1055/a-2885-2659","DOIUrl":"https://doi.org/10.1055/a-2885-2659","url":null,"abstract":"","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148437131","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neuroborreliosis in children: Focus on ischemic stroke-a case report and literature review.","authors":"Milian Brasche, Michael Kleines, Maryam Feiz, Thorsten Orlikowsky, Konrad Heimann, Martin Haeusler","doi":"10.1055/a-2902-9295","DOIUrl":"https://doi.org/10.1055/a-2902-9295","url":null,"abstract":"<p><strong>Abstract: </strong>Lyme borreliosis-the most prevalent tick-borne disease in the United States, Canada and Europe-is a systemic infection caused by the spirochete <i>Borrelia burgdorferi</i> that can spread to the nervous system, where it may manifest as neuroborreliosis with potentially severe complications. Despite a worldwide and increasing prevalence, data on central nervous system complications in children with neuroborreliosis are limited.</p>","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148437104","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Changes in Mamillopontine Distance and Pontomesencephalic angle following Treatment for Pediatric Idiopathic Intracranial Hypertension.","authors":"Sadullah Şimşek, Tülin Savaş, Tarık Sağlam, Ali Oğuz, Ufuk Çelebi, Akif İşlek, Aylin Akın Oğuz","doi":"10.1055/a-2902-9526","DOIUrl":"https://doi.org/10.1055/a-2902-9526","url":null,"abstract":"<p><strong>Background: </strong>Pediatric idiopathic intracranial hypertension requires objective, noninvasive markers for diagnosis and follow-up. We aimed to determine whether mammillopontine distance and pontomesencephalic angle, two simple sagittal MRI measurements, reflect treatment-related changes.</p><p><strong>Methods: </strong>This retrospective study included 40 children aged 5 to 15 years: 20 patients with idiopathic intracranial hypertension and 20 age-matched controls. Idiopathic intracranial hypertension diagnosis was based on clinical/radiological findings and a cerebrospinal fluid opening pressure of>28 cmH₂O. All idiopathic intracranial hypertension patients underwent lumbar puncture with therapeutic cerebrospinal fluid drainage and acetazolamide therapy, with magnetic resonance imaging performed before treatment and after complete clinical and radiological resolution. Controls had normal cerebrospinal fluid pressure and normal serial magnetic resonance imaging findings. The mammillopontine distance and pontomesencephalic angle were measured on sagittal T2-weighted images by three experienced radiologists. Statistical analyses were performed using SPSS, with <i>p</i><0.05 considered significant; inter-rater reliability was assessed using the intraclass correlation coefficient.</p><p><strong>Results: </strong>Age and sex were comparable between groups. Before treatment, the pontomesencephalic angle and mammillopontine distance were significantly lower in the idiopathic intracranial hypertension group than in controls (both <i>p</i><0.001), while the cerebrospinal fluid pressure was significantly higher (<i>p</i><0.001). After treatment, the mammillopontine distance increased by a mean of 0.64 mm and the pontomesencephalic angle increased by a mean of 8.88°, accompanied by a mean cerebrospinal fluid pressure reduction of 21.60 mmH₂O (all <i>p</i><0.001). Serial measurements in controls remained unchanged (<i>p</i>>0.050). In controls, repeated-measurement reliability was high (intraclass correlation coefficient=0.970; 95% confidence interval: 0.925-0.988).</p><p><strong>Conclusions: </strong>Mammillopontine distance and pontomesencephalic angle demonstrate significant treatment-related changes in pediatric idiopathic intracranial hypertension and may be useful, reproducible magnetic resonance imaging-derived markers for follow-up. Although both parameters increased after therapy, the pontomesencephalic angle showed a more pronounced treatment-related change than the mammillopontine distance, suggesting greater responsiveness for monitoring treatment responses.</p>","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148437199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Role of Parameters in Whole Blood Analysis as in Indicator of Systemic Inflammation in Children with Rheumatic Valve Diseases.","authors":"Lala Nurmammadova, Yilmaz Yozgat, Can Yilmaz Yozgat, Turkay Babayeva, Nigar Bayramova, Faraz Talebazadeh, Ertan Koç, Feyza Ustabas Kahraman, Ufuk Erenberk","doi":"10.1055/a-2367-9190","DOIUrl":"10.1055/a-2367-9190","url":null,"abstract":"<p><strong>Abstract: </strong>PURPOSE: The most important cause of mortality and morbidity in acute rheumatic fever (ARF) is carditis and rheumatic heart disease (RHD). The aim of this study was to identify markers that may be indicators of chronic inflammation in whole blood analyses in pediatric patients with RHD who regularly received secondary deposilin prophylaxis.</p><p><strong>Abstract: </strong>METHODS: In our study, 100 children with ARF aged between 4 and 18 years were followed up in the pediatric cardiology outpatient clinic of the patient group. The control group consisted of 100 healthy children of the same sex and age as the patient group. All children in the patient group regularly received deposilin prophylaxis every 21 days. Our study included many whole blood parameters that are reported in the literature to represent changes in chronic inflammatory diseases. These parameters were CRP, RDW, PDW, MPV and leukocyte subtypes, neutrophil, lymphocyte, monocyte counts and their ratios (neutrophil/lymphocyte, platelet/lymphocyte and monocyte/lymphocyte).</p><p><strong>Abstract: </strong>RESULTS: Leukocyte count, lymphocyte count, basophil count, MLR and basophil count were significantly lower in the patient group than in the control group (p: 0.047, p: 0.023, p: 0.006). In addition, eosinophil count and RDW value were significantly higher in the patient group than in the control group (p: 0.043; p: 0.001).</p><p><strong>Abstract: </strong>CONCLUSION: In our study, low leukocyte, lymphocyte, basophil, MLR and higher eosinophil counts indicated that RDW could be effectively used as a marker for regular depositilin prophylaxis in pediatric patients with RHD.</p>","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":" ","pages":"191-195"},"PeriodicalIF":0.8,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141633881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Susceptibility of Escherichia Coli to Antibiotic Treatment for Pediatric Patients With Febrile Urinary Tract Infections in the Bratislava Region.","authors":"Barbora Pitekova, Patrik Konopásek, Miriama Babelova, Jakub Gecz, Kristina Hlasna, Jan Breza, Peter Barton, Jakub Zieg","doi":"10.1055/a-2356-7784","DOIUrl":"10.1055/a-2356-7784","url":null,"abstract":"<p><strong>Abstract: </strong>Urinary tract infections are one of the most common types of bacterial infections in childhood. Normally, empiric antibiotic therapy is given based on local antimicrobial susceptibility. We performed a retrospective study to evaluate bacterial resistance and clinical responses to antibiotics in childhood febrile urinary tract infections (fUTIs) in the Bratislava region of Slovakia. A total of 182 children with a fUTI were enrolled in our retrospective study. 84,07% of these fUTIs were caused by pathogenic Escherichia coli (E. coli). According to microbial antibiotic susceptibility tests, the most effective antibiotic agents were third-generation cephalosporins (susceptibility was observed in 92,16% (n=141) of the cases), followed by aminopenicillins with betalactamase inhibitor (susceptibility was observed in 84,97% (n=130) of the cases) and trimethoprim-sulfamethoxazole (susceptibility was observed in 79,74% (n=122) of the cases). In contrast, E. coli was susceptible to second-generation cephalosporins in just 3,92% (n=6). Patients treated with third-generation cephalosporins achieved a clinical response to therapy almost in all of the cases (95,7% (n=66)), whereas second-generation cephalosporins were associated with a clinical response to therapy in only 55,9% (n=33) of the cases. Third-generation cephalosporins and aminopenicillins with a betalactamase inhibitor appear to be the most suitable initial antibiotic therapies in pediatric patients with fUTIs. Following current guidelines alongside the regular assessment of regional microbial antibiotic susceptibilities should provide the best treatment management for children with fUTIs.</p>","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":" ","pages":"185-190"},"PeriodicalIF":0.8,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141878997","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Structured Assessment of Mental Health Issues in Preventive Health Examinations - Findings from the Cluster-Randomized PSYCH-U Study].","authors":"Hannah Schmidt, Ingo Menrath, Svenja Mertens, Silke Pawils","doi":"10.1055/a-2407-2501","DOIUrl":"10.1055/a-2407-2501","url":null,"abstract":"<p><strong>Abstract: </strong>BACKGROUND: Early detection of psychological problems is crucial to prevent chronic progression. The Psych-U study evaluated the added value of structured assessment of psychological issues during U-screenings compared to routine screenings without such assessment.</p><p><strong>Abstract: </strong>METHODS: In a cluster-randomized controlled design, a two-arm intervention group (IG; Strengths and Difficulties Questionnaire, SDQ, and Mannheimer Elternfragebogen, MEF) was compared to a control group (CG). In the IG, parents completed a tablet-based structured assessment of potential psychological issues before the U-screening, which was then discussed with pediatricians during the screening. Outcomes included acceptance (participation rate; parent phone interviews), feasibility (focus groups with practice teams), and effectiveness (referral rates) of the structured assessment versus routine care.</p><p><strong>Abstract: </strong>RESULTS: A total of N=3,138 families participated (participation rate: 85.3%). In parent phone interviews (n=348), the SDQ and MEF showed high acceptance. Focus group interviews with practice teams indicated high feasibility, but noted that implementing structured assessment into routine care would require systemic changes at the health system level (e.g., reimbursement for extra effort), practice level (e.g., digital data collection), and patient level (e.g., addressing language barriers). The IG had a higher referral rate than the CG.</p><p><strong>Abstract: </strong>CONCLUSION: Structured assessment of psychological issues appears beneficial but requires structural adjustments. Additionally, sufficient local referral options should be available.</p>","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":" ","pages":"204-212"},"PeriodicalIF":0.8,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813518","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}