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Search Results (303)

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Keywords = general paediatrics

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47 pages, 537 KB  
Review
Botulinum Toxin in Children and Adolescents—A Comprehensive Review of Clinical Applications
by Marko Bašković, Vedrana Nikić Čižmek, Jana Buzuk, Bianka Dujić, Danijela Jurić, Kristina Jurković, Karla Pehar and Sara Vuković
Toxins 2026, 18(9), 360; https://doi.org/10.3390/toxins18090360 - 23 Aug 2026
Abstract
Botulinum toxin, once known only as the cause of botulism, has become a versatile therapeutic agent whose use in children now extends across many medical and surgical specialties. This narrative review synthesises the clinical use of botulinum toxin in patients up to eighteen [...] Read more.
Botulinum toxin, once known only as the cause of botulism, has become a versatile therapeutic agent whose use in children now extends across many medical and surgical specialties. This narrative review synthesises the clinical use of botulinum toxin in patients up to eighteen years of age. We describe its pharmacology, the non-interchangeable commercial preparations, and the weight-based dosing and safety principles specific to childhood, then examine its applications by organ system. Gastrointestinal uses include functional constipation and internal anal sphincter achalasia, persistent obstruction after surgery for Hirschsprung disease, anal fissure, and achalasia. Urological uses centre on neurogenic and idiopathic detrusor overactivity and on sphincter-directed injection for dysfunctional voiding. Neurological uses are dominated by cerebral palsy spasticity and, on considerably weaker evidence, dystonia, while head and neck uses include sialorrhoea, congenital muscular torticollis, and strabismus. We also address neonatal brachial plexus palsy together with hyperhidrosis and aesthetic use in adolescents. The evidence supporting these uses is markedly uneven. Randomised controlled trials exist for only a small number of paediatric indications, chiefly spasticity in cerebral palsy, neurogenic detrusor overactivity, and chronic sialorrhoea, whereas most remaining applications rest on observational cohorts, small case series, or extrapolation from adult practice, and we grade the certainty of evidence separately for every indication. Only a few indications are formally approved, and most remain off-label, though increasingly supported. Botulinum toxin is a reversible and generally safe adjunct, but rigorous paediatric trials are still needed. Full article
(This article belongs to the Special Issue Botulinum Toxins: Past Successes and New Goals)
18 pages, 2074 KB  
Review
Digital, Media, and Information Literacies and the Well-Being of Neurotypical and Neurodivergent Children: A Synthetic Knowledge Synthesis
by Irena Lovrenčič Držanič, Suzana Žilič Fišer, Laura Horvat, Helena Blažun Vošner and Peter Kokol
Healthcare 2026, 14(16), 2645; https://doi.org/10.3390/healthcare14162645 - 20 Aug 2026
Viewed by 106
Abstract
Background/Objectives: Children now spend a substantial part of daily life in digital environments, and their digital, media, and information literacies shape their online safety, social-emotional development, and mental health, making these competencies a concern for child public health and preventive paediatric care. This [...] Read more.
Background/Objectives: Children now spend a substantial part of daily life in digital environments, and their digital, media, and information literacies shape their online safety, social-emotional development, and mental health, making these competencies a concern for child public health and preventive paediatric care. This study applies a Synthetic Knowledge Synthesis (SKS) to map how digital, media, and information literacies (hereafter digital literacies) among children have evolved, comparing neurotypical and neurodivergent children. SKS is a semi-automated approach that combines descriptive bibliometrics, keyword co-occurrence mapping, and qualitative content analysis to map an entire research field or topic. Methods: We treat digital literacies as relevant to children’s health, well-being, and safe online participation, and we analyse Scopus-indexed literature from 1996 to 2025 using descriptive bibliometrics, keyword co-occurrence mapping, and qualitative content analysis. Results: The mapping shows strong growth in general digital-literacy scholarship alongside a small but persistent body of work on a “double digital divide” affecting children with autism spectrum disorder (ASD), ADHD, and dyslexia. The two bodies of work differ in emphasis: the general literature foregrounds social integration and critical agency, while research on neurodivergent children foregrounds inclusive pedagogy, implicit learning, and multimodal expression. It also shifts from general digital-safety awareness toward protective mediations for vulnerabilities such as social-emotional decoding differences and impulsivity, which bear on children’s online safety and mental health. Because bibliometric mapping reveals where research is concentrated rather than what works in practice, the synthesis points to evidence gaps rather than proven methods. Conclusions: On this basis, we argue for an integrated public-health and socio-educational framework that complements universal literacy standards with adaptive, assistive safety nets, so that all children can take part in digital life safely and on equal terms. Full article
(This article belongs to the Section Digital Health Technologies)
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10 pages, 228 KB  
Article
Effects of Use of Primary Care Checklists and of Extent of Clinical Experience on Performance in Interpreting Paediatric ECGs Linked to Risk of Sudden Cardiac Death
by Juan Antonio Costa-Orvay, Maria del Carmen Martin-Perez, Emma Gregg Azcarate, Silvia Escriba-Bori, Sergio Verd and Miguel Angel Granados
Healthcare 2026, 14(16), 2628; https://doi.org/10.3390/healthcare14162628 - 19 Aug 2026
Viewed by 186
Abstract
Introduction: Sudden cardiac death in children and adolescents is a devastating yet potentially preventable event. There is, therefore, an urgent need for early recognition of young patients at elevated cardiac risk. Electrocardiographic screening may play a central role in this effort. However, interpreting [...] Read more.
Introduction: Sudden cardiac death in children and adolescents is a devastating yet potentially preventable event. There is, therefore, an urgent need for early recognition of young patients at elevated cardiac risk. Electrocardiographic screening may play a central role in this effort. However, interpreting paediatric ECGs requires advanced diagnostic skills. Checklists have been advocated to mitigate errors in a number of complex fields, both medical and non-medical; however, their effectiveness in interpreting paediatric ECGs remains uncertain. Objective: To evaluate whether the use of a structured checklist improves primary care paediatricians’ performance in interpreting paediatric ECGs, and to assess the influence of professional experience on diagnostic accuracy. Methods: We conducted a prospective, parallel-group study involving primary care paediatricians in the Balearic Islands (Spain). Participants were randomly assigned to interpret paediatric ECGs, either using routine unstructured interpretation or with checklist support. Outcomes included diagnostic validity ratios, and appropriateness of referral to paediatric cardiologists. Performance was analysed according to checklist use or years of clinical experience. It was also analysed whether diagnostic accuracy varied according to whether the ECG was classified as normal, or abnormal with or without an increased risk of sudden cardiac death. Results: Thirty-one paediatricians completed the study, generating 310 ECG interpretations. Checklist use did not significantly improve sensitivity, specificity, or likelihood ratios for detecting ECG abnormalities associated with sudden cardiac death risk, nor did it increase appropriate referral rates. We report a trend towards higher specificity and likelihood ratios among paediatricians with fewer than 20 years of professional experience than among their more senior counterparts. Significantly, this study found true positive rates of normal ECGs, and of abnormal ECGs with risk of sudden cardiac death, to be around 90%, as opposed to true positive rates of around 60% for abnormal ECGs without risk of sudden cardiac death (91% vs. 85% vs. 59%, respectively). Conclusions: In this study, checklist support did not enhance diagnostic performance in paediatric ECG interpretation. This finding highlights the need for targeted efforts to improve diagnostic accuracy in this sensitive subset. We also report that mid-career paediatricians appear to achieve the highest ECG diagnostic accuracy, and we show a particularly high rate of correct interpretation of both simple ECGs and high-risk abnormal ECGs. Full article
(This article belongs to the Special Issue Clinical Insights in Preventive Cardiology)
11 pages, 222 KB  
Article
On-Table Versus Deferred Extubation After Paediatric Cardiac Catheterisation Under General Anaesthesia: A Retrospective Cohort Study
by Gözde Gürsoy Çirkinoğlu, Halide Hande Şahinkaya, Canan Salman Önemli, Mehmet Ali Efe, Makbule Gürlek, Murat Kaykaç, Mustafa Orhan Bulut and Engin Gerçeker
J. Cardiovasc. Dev. Dis. 2026, 13(8), 388; https://doi.org/10.3390/jcdd13080388 - 13 Aug 2026
Viewed by 155
Abstract
Purpose: Extubation timing after paediatric cardiac catheterisation under general anaesthesia remains a challenging clinical decision, particularly in children with cyanotic or haemodynamically significant congenital heart disease. This study aimed to evaluate factors associated with non-on-table extubation and to assess early postoperative respiratory outcomes [...] Read more.
Purpose: Extubation timing after paediatric cardiac catheterisation under general anaesthesia remains a challenging clinical decision, particularly in children with cyanotic or haemodynamically significant congenital heart disease. This study aimed to evaluate factors associated with non-on-table extubation and to assess early postoperative respiratory outcomes in this high-risk population. Design: This was a single-centre retrospective cohort study conducted in a paediatric cardiac catheterisation laboratory. Methods: Paediatric patients with cyanotic or haemodynamically significant/complex congenital heart disease who underwent cardiac catheterisation under general anaesthesia with endotracheal intubation were included. Patients were grouped according to whether they were extubated on-table in the catheterisation laboratory or transferred to the intensive care unit with ongoing invasive mechanical ventilation. The primary outcome was non-on-table extubation. Secondary outcomes included extubation timing, reintubation within 48 h, major respiratory complications within 48 h, intensive care unit length of stay, hospital length of stay, and 7-day and 30-day mortality. Logistic regression analysis was used to identify factors associated with non-on-table extubation. Findings: Seventy-two patients were included. On-table extubation was performed in 52 patients (72.2%), whereas 20 patients (27.8%) were not extubated on-table. Patients not extubated on-table were younger, had lower body weight, higher American Society of Anesthesiologists physical status IV (ASA IV) frequency, higher Catheterization Risk Score for Pediatrics (CRISP) scores, lower baseline SpO2, and were more frequently undergoing emergency procedures. Reintubation within 48 h occurred only in the non-on-table extubation group (15.0% vs. 0.0%; p = 0.019). Major respiratory complications within 48 h were more frequent in patients not extubated on-table (20.0% vs. 3.8%; p = 0.047). Intensive care unit and hospital length of stay were also longer in this group. In multivariable analysis, higher CRISP score (adjusted odds ratio 1.22; 95% confidence interval 1.009–1.476; p = 0.040) and emergency procedure (adjusted odds ratio 8.74; 95% confidence interval 1.365–55.927; p = 0.022) were independently associated with non-on-table extubation. No 7-day mortality occurred in either group. Conclusions: On-table extubation after paediatric cardiac catheterisation under general anaesthesia was feasible in most selected patients with cyanotic or haemodynamically significant/complex congenital heart disease. Higher CRISP score and emergency procedures were independently associated with non-on-table extubation. These findings suggest that catheterisation-specific risk assessment may help anticipate postoperative ventilatory requirements in high-risk paediatric cardiac catheterisation patients. Full article
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15 pages, 1049 KB  
Article
The Impact of 40 Years of Data Collection: The Victoria Cerebral Palsy Register
by Dinah S. Reddihough, Gina Hinwood, Angela Guzys, Erich Rutz and Susan M. Reid
Children 2026, 13(8), 1065; https://doi.org/10.3390/children13081065 - 10 Aug 2026
Viewed by 267
Abstract
Background: The Victorian Cerebral Palsy Register (VCPR) project collects information on all individuals born or living in Victoria since 1970. It is one of the largest cerebral palsy (CP) registers internationally, with over 6800 participants. Methods: This paper will explain how the VCPR [...] Read more.
Background: The Victorian Cerebral Palsy Register (VCPR) project collects information on all individuals born or living in Victoria since 1970. It is one of the largest cerebral palsy (CP) registers internationally, with over 6800 participants. Methods: This paper will explain how the VCPR was established, how data are collected and the main outcomes from its use over an extended period of time. Results: The knowledge generated through the VCPR has contributed to information about epidemiology including trends in prevalence over time, and rates and causes of death; the VCPR has been used to investigate causal pathways and potential avenues for prevention or amelioration. It has been valuable in identifying cohorts for multidisciplinary studies resulting in improved understanding of the management of associated problems. The VCPR has also been used in the development of measurement tools and has enabled data linkage studies contributing to knowledge about CP. Conclusion: The Register not only provides an efficient means of identifying eligible cohorts, but the population basis of the VCPR provides the ability to assess the generalisability of research cohorts and a means of adjusting for selection bias and potential misinterpretation of study results. The project has gained international recognition for the knowledge generated on prevalence, risk factors, mortality, clinical profiles, neuroimaging patterns, health service use, assessment tools, participation, epidemiology in paediatric orthopaedics, and quality of life. It has underpinned significant improvements in clinical care for children with CP by enabling researchers from diverse disciplines to complete 157 studies. Full article
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28 pages, 5203 KB  
Review
Mpox in Europe, 2022–2026: A Scoping Review of Viral Clades, Host Determinants of Severity and Antiviral Therapy
by Filippos Sofos, Zoi D. Pana and Dimitris Drikakis
Viruses 2026, 18(8), 865; https://doi.org/10.3390/v18080865 - 7 Aug 2026
Viewed by 394
Abstract
The 2022–2024 mpox outbreak in Europe was dominated by MPXV Clade IIb and generally mild, but recent Clade I/Ib detections and early local transmission have changed preparedness needs. We performed a PRISMA-ScR scoping review of European mpox evidence from 2022 to 2026, supplemented [...] Read more.
The 2022–2024 mpox outbreak in Europe was dominated by MPXV Clade IIb and generally mild, but recent Clade I/Ib detections and early local transmission have changed preparedness needs. We performed a PRISMA-ScR scoping review of European mpox evidence from 2022 to 2026, supplemented by global and African data where regional evidence was sparse, covering clades, host determinants of severe disease, and antiviral efficacy and resistance, and ranking the evidence gaps. European Clade IIb surveillance showed very low mortality (10 deaths among 22,662 cases; case fatality 0.04%), contrasting with 3–11% estimates for Clade I/Ib in affected African settings, although comparisons are confounded by age, health-system access and comorbidity. Severe European disease was driven mainly by immune compromise: non-HIV immunosuppression, uncontrolled HIV and CD4 counts < 200 cells/µL were the most consistent markers, while women were a small minority of cases, with higher hospitalisation risk, especially in pregnancy. Tecovirimat failed to improve outcomes in four randomised trials, F13L-associated resistance was reported in advanced HIV, and its European mpox use was subsequently restricted. The evidence base is strongest for mild Clade IIb infection in immunocompetent adults and weakest for the groups most likely to need treatment. Preparedness should prioritise harmonised genomic surveillance, severity-stratified cohort data and adaptive therapeutic trials enrolling immunocompromised, paediatric, pregnant and older patients. Full article
(This article belongs to the Section Human Virology and Viral Diseases)
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13 pages, 450 KB  
Article
Association Between Body Weight and Clinical Characteristics of Slipped Capital Femoral Epiphysis in Switzerland: A 21-Year Single-Centre Retrospective Analysis (2005–2025)
by Audrey Meier, Tobias Krause, Carl Alessandro Starvaggi, Milan Milosevic and Kai Ziebarth
J. Clin. Med. 2026, 15(16), 6138; https://doi.org/10.3390/jcm15166138 - 7 Aug 2026
Viewed by 190
Abstract
Background: Epidemiological patterns vary across populations and treatment centres worldwide, with obesity consistently reported as the main risk factor. The primary aim of this study was to characterise age- and sex-adjusted body mass index (BMI) z-scores in children with slipped capital femoral epiphysis [...] Read more.
Background: Epidemiological patterns vary across populations and treatment centres worldwide, with obesity consistently reported as the main risk factor. The primary aim of this study was to characterise age- and sex-adjusted body mass index (BMI) z-scores in children with slipped capital femoral epiphysis (SCFE) treated in Bern, as well as to investigate their association with clinical characteristics. A secondary aim was to compare the observed characteristics with those reported internationally. Methods: This is a single-centre, retrospective cohort study conducted at the Department of Pediatric Surgery, University Children’s Hospital, Inselspital, University of Bern, and included patients under the age of 18 who were treated for SCFE between 2005 and 2025. Demographic, clinical, and anthropometric data were collected for all patients, including sex, age at the time of surgery, slip severity using the Southwick angle, intraoperative slip stability, symptom duration, as classified by Fahey/O’Brien, affected side of the hip, as well as height and weight at the time of surgery. The primary outcome was the age- and sex-adjusted BMI z-score at the time of surgery. Analyses stratified by sex, age, and slip severity were prespecified as secondary analyses. All other subgroup analyses were exploratory and hypothesis-generating. Results: The final cohort included 90 males (69.23%) and 40 females (30.77%). BMI data were available for 114 of the 130 patients. Two-thirds of the patients (62.3%) were overweight or obese. The median BMI z-score was 1.43 (interquartile range 0.72–2.19; mean 1.31 ± 1.11) and was significantly higher than the expected reference value of 0 (p < 0.001). There was no statistically significant difference in BMI z-scores between females and males (p = 0.288). A statistically significant association was observed between age at surgery and BMI z-score. Higher age at surgery was associated with lower BMI z-scores (p = 0.007). There was a trend towards lower BMI z-scores with increasing slip severity. However, this difference did not reach statistical significance (p = 0.158). In an exploratory, hypothesis-generating analysis, patients with stable slips had significantly higher BMI z-scores than those with unstable slips (p = 0.008). This association persisted after adjustment for age and after correction for multiple testing (p_adj = 0.032). A further exploratory, hypothesis-generating analysis showed that BMI z-scores also differed significantly across symptom duration, as classified by Fahey/O’Brien (p = 0.026). The lowest values were observed in the acute-on-chronic group. However, these differences just missed the threshold for statistical significance after adjustment for age and after correction for multiple testing (p_adj = 0.052). Conclusions: In Switzerland, children diagnosed with SCFE had a significantly higher BMI compared to the reference population. Our study revealed that two-thirds of the children were classified as overweight or obese, with obesity being approximately ten times more prevalent among this group compared to the overall Swiss paediatric population. A higher relative body weight was found to be independently associated with a younger age at surgery, consistent with obesity accelerating skeletal maturation and advancing the manifestation of SCFE. We identified a trend towards lower BMI z-scores with increasing slip severity; however, this finding did not reach statistical significance. Consequently, elevated body weight should be regarded as a marker of predisposition and earlier disease onset rather than of slip severity. Childhood obesity prevention may be relevant to SCFE prevention in Switzerland. Full article
(This article belongs to the Section Orthopedics)
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13 pages, 891 KB  
Article
Clinical Profile and Dental Treatment Needs of Children with Special Healthcare Needs Undergoing General Anaesthesia: A Retrospective Study
by María Carmona-Santamaría, María Isidora Sarciat Aguayo, Laura Marqués-Martínez, Juan Ignacio Aura-Tormos, Clara Guinot-Barona and Esther García-Miralles
Children 2026, 13(8), 1034; https://doi.org/10.3390/children13081034 - 3 Aug 2026
Viewed by 256
Abstract
Background/Objectives: Children with special healthcare needs (CSHCN) face significant barriers to conventional dental care and frequently require general anaesthesia (GA). Data characterising the clinical and therapeutic profile of this population in the Spanish public health system remain scarce. This study aimed to describe [...] Read more.
Background/Objectives: Children with special healthcare needs (CSHCN) face significant barriers to conventional dental care and frequently require general anaesthesia (GA). Data characterising the clinical and therapeutic profile of this population in the Spanish public health system remain scarce. This study aimed to describe the systemic conditions, oral pathology, and dental procedures performed in CSHCN attending a tertiary-care paediatric oral and maxillofacial surgery service, and to characterise the subgroup of patients requiring treatment under GA relative to the wider clinic population. Methods: A retrospective, descriptive, observational study was conducted at the Hospital Universitario y Politécnico La Fe (Valencia, Spain) from November 2022 to February 2026. Data were extracted from electronic health records for 160 outpatient clinic patients aged 0–14 years (70.6% male), of whom 42—a subgroup, not an independent sample—subsequently underwent dental treatment under GA (76.2% male). Sex, age, and autism spectrum disorder (ASD) status were compared between the GA subgroup and a non-overlapping outpatient-only comparator (n = 118) using Fisher’s exact test and Welch’s t-test. Results: ASD was the most prevalent systemic condition in both the outpatient clinic (25.0%) and the GA subgroup (42.9%); a statistically significant association with ASD status was observed against the non-overlapping outpatient-only comparator (18.6% ASD; p = 0.003), while sex (p = 0.432) and age (p = 1.00) did not differ. Dental caries was the most common finding at outpatient assessment (61.0%), followed by root remnants (32.1%). Among GA patients, tooth extraction was performed in 78.6%, composite restoration in 71.4%, and professional dental cleaning in 50.0%. The mean number of procedure types per GA patient was 2.5 ± 1.0 (range 1–5); 81.0% received two or more procedure types in a single session. Conclusions: CSHCN attending this service present advanced oral disease, and those referred for GA had a significantly higher prevalence of ASD than the remaining clinic population, requiring complex, multi-procedure interventions in a single session. The wide geographic pattern of referrals suggests that further evaluation of the distribution of hospital dental services within the public health network may be warranted, and caregiver-targeted preventive programmes may represent a promising strategy to reduce the oral disease burden in this population. Full article
(This article belongs to the Section Pediatric Anesthesiology, Pain Medicine and Palliative Care)
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29 pages, 1533 KB  
Article
A Clinician-in-the-Loop Framework for Validating and Selecting Synthetic Paediatric Dermatology Images
by Ali Tariq Nagi, Chiara Bellatreccia, Andrea Borghesi, Arianna Dondi, Luca Pierantoni, Daniele Zama, Iria Neri, Marcello Lanari and Roberta Calegari
Information 2026, 17(8), 749; https://doi.org/10.3390/info17080749 - 1 Aug 2026
Viewed by 213
Abstract
Synthetic data are increasingly proposed as a strategy for addressing data scarcity and representation imbalance in medical AI, particularly for paediatric populations and darker skin tones. However, visually plausible synthetic images may still contain clinically implausible features or fairness-relevant inconsistencies that are not [...] Read more.
Synthetic data are increasingly proposed as a strategy for addressing data scarcity and representation imbalance in medical AI, particularly for paediatric populations and darker skin tones. However, visually plausible synthetic images may still contain clinically implausible features or fairness-relevant inconsistencies that are not adequately captured by automatic image-quality metrics. In this study, we present and empirically evaluate a clinician-guided framework for validating and selecting synthetic paediatric dermatology images. The framework combines a clinician-facing evaluation platform with structured assessments of visual realism, mask quality, diagnostic plausibility, confidence, and skin-tone relevance. Four clinicians with complementary expertise in paediatrics and dermatology completed 282 assessments of 93 real and synthetic images. Synthetic images were often rated as visually realistic but showed lower inter-rater agreement and weaker mask-quality assessments than real images. Clinician realism and confidence ratings were then used to divide 30 synthetic images into 18 approved and 12 non-approved images. To assess downstream utility, we compared a real-only ResNet50 classifier with classifiers augmented using all synthetic images, clinician-approved synthetic images, or non-approved synthetic images. Across three patient-level experimental splits, the clinician-approved condition achieved the strongest overall classification performance and the largest gains for the under-represented Dark-Skin subgroup. Because the Dark-Skin subgroup contained only seven patients and the synthetic subsets differed in size and disease composition, these fairness results should be interpreted as exploratory. The present study therefore provides evidence for clinician-guided validation and data curation rather than for a completed iterative generator-retraining process. Future work will evaluate whether clinician feedback can also support repeated generative-model refinement in larger, multi-centre datasets. Full article
(This article belongs to the Special Issue Information Technology for Smart Healthcare)
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14 pages, 265 KB  
Article
KRAS Mutation Detection by Real-Time and Digital PCR in Tumor Tissue and Plasma and Its Association with Survival in Stage II–IV Colorectal Cancer: A Kazakhstan Cohort Study
by Timur Nasrytdinov, Dilyara Kaidarova, Venera Israilova, Saken Khaidarov, Bayan Nurgaliyeva, Slu Izmailova, Gulmira Rapilbekova, Marat Rabandiyarov, Bibigul Abdygalyk, Askar Aidarov, Daulet Aidarov and Aray Aidarova
Genes 2026, 17(8), 907; https://doi.org/10.3390/genes17080907 - 31 Jul 2026
Viewed by 328
Abstract
Background/Objectives: Colorectal cancer (CRC) is molecularly heterogeneous, and the KRAS (Kirsten rat sarcoma viral oncogene homolog) genotype both governs eligibility for anti-EGFR (epidermal growth factor receptor) therapy and carries prognostic weight. Central Asian data are scarce: no Kazakhstani series has described the KRAS [...] Read more.
Background/Objectives: Colorectal cancer (CRC) is molecularly heterogeneous, and the KRAS (Kirsten rat sarcoma viral oncogene homolog) genotype both governs eligibility for anti-EGFR (epidermal growth factor receptor) therapy and carries prognostic weight. Central Asian data are scarce: no Kazakhstani series has described the KRAS variant spectrum, linked it to survival, or reported mutation detection rates across specimen types and PCR platforms. Methods: We studied 332 patients with morphologically confirmed stage II–IV colorectal adenocarcinoma. KRAS status was determined in formalin-fixed paraffin-embedded (FFPE) tumor tissue by allele-specific real-time PCR (RT-PCR) covering six selected codon 12 and 13 variants. Overall survival (OS) was estimated by the Kaplan–Meier method for the whole cohort and with stage stratification. Separately, mutation detection rates were recorded in three non-overlapping groups of different patients: plasma RT-PCR on the Idylla platform (n = 30), plasma nanoplate digital PCR (dPCR) on QIAcuity One (n = 120), and a routine tissue RT-PCR series (546 evaluable of 550). Because these groups differed in patients, specimen type, and mutation panel, this comparison describes observed detection rates only and supports no inference about analytical sensitivity, specificity, or concordance. Results: KRAS was mutated in 149/332 tumors (44.9%); codon 12 supplied 80.5% of variants, led by G12D (32.2%), G12V (24.8%) and G13D (19.5%). Median OS did not differ between mutant and wild-type tumors (39.0 vs. 36.6 months; p = 0.40). Variant-level differences were directionally consistent, but none was significant, and all were exploratory and unadjusted for multiplicity. Observed detection rates were 40.3% for tissue RT-PCR (220/546), 13.3% for plasma RT-PCR (4/30; continuity-corrected p = 0.006 vs. tissue), and 50.8% for plasma dPCR (61/120; continuity-corrected p = 0.044, Pearson p = 0.034 vs. tissue). BRAF V600E was detected by plasma dPCR in 11/120 cases (9.1%). Conclusions: This first Kazakhstani series places KRAS frequency within the internationally reported range and shows that variant-level reporting reveals prognostic structure that a binary call conceals. The higher detection rate seen with plasma dPCR is hypothesis-generating, not evidence of platform superiority, and motivates a prospective paired-sample study with harmonized mutation panels. Full article
18 pages, 5617 KB  
Article
The Japanese Version of the Functional Listening Index—Paediatric (FLI-P(J)): Translation, Normative Data, and Clinical Feasibility
by Jason Hollowell, Tessei Kobayashi, Shigeto Furukawa and Aleisha Davis
Children 2026, 13(8), 1010; https://doi.org/10.3390/children13081010 - 30 Jul 2026
Viewed by 313
Abstract
Background: The Functional Listening Index—Paediatric (FLI-P) tracks functional listening development from birth to six years but lacks Japanese-language norms. This study translated the FLI-P into Japanese (FLI-P(J)) to generate normative developmental trajectories for typically hearing children. Methods: Following translation, the FLI-P(J) [...] Read more.
Background: The Functional Listening Index—Paediatric (FLI-P) tracks functional listening development from birth to six years but lacks Japanese-language norms. This study translated the FLI-P into Japanese (FLI-P(J)) to generate normative developmental trajectories for typically hearing children. Methods: Following translation, the FLI-P(J) was administered as an online caregiver survey in Japan. After applying sequential exclusion criteria (removing developmental concerns, zero scores, and IQR outliers) to 2976 responses, a normative sample of 2512 typically hearing children (2–73 months) was retained. Four parameter logistic functions were fitted to empirical percentile trajectories (5th–95th). Results: FLI-P(J) scores demonstrated rapid growth across the first three years before gradually plateauing. Phase-level acquisition curves confirmed the expected developmental ordering. Most clinically flagged children scored at or below the 5th percentile. Conclusions: This study establishes the first Japanese normative reference curves for functional listening. This cross-linguistic alignment, together with preliminary evidence that clinically flagged children scored at the low end of the distribution, supports the potential of the FLI-P(J) as a clinical benchmark for evaluating Japanese children who are deaf or hard of hearing, pending further validation in independently confirmed clinical samples. Full article
(This article belongs to the Section Pediatric Otolaryngology)
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17 pages, 308 KB  
Article
Clinical Profile and Diagnostic Spectrum of Autoimmune Comorbidities in Juvenile Idiopathic Arthritis: A Descriptive Single-Centre Observational Study
by Alina Mariela Murgu, Adriana Mihai, Paula Popovici, Ninel Revenco, Mara Russu, Laura Mihaela Trandafir, Elena Țarcă, Dana-Teodora Anton-Păduraru, Alina Onofrei, Răzvan Popovici and Codrina Ancuța
Diagnostics 2026, 16(15), 2381; https://doi.org/10.3390/diagnostics16152381 - 29 Jul 2026
Viewed by 323
Abstract
Background/Objectives: Children with juvenile idiopathic arthritis (JIA) frequently develop additional autoimmune conditions during follow-up, yet the clinical and diagnostic profile of this comorbid subgroup is incompletely characterised in single-centre paediatric series. We aimed to describe the prevalence, clinical pattern, and diagnostic features of [...] Read more.
Background/Objectives: Children with juvenile idiopathic arthritis (JIA) frequently develop additional autoimmune conditions during follow-up, yet the clinical and diagnostic profile of this comorbid subgroup is incompletely characterised in single-centre paediatric series. We aimed to describe the prevalence, clinical pattern, and diagnostic features of autoimmune comorbidities in a seven-year cohort of children with JIA monitored at a single tertiary paediatric centre, and to document the diagnostic protocols applied for each comorbidity. Methods: We conducted a retrospective descriptive observational study of 103 consecutive children with JIA classified according to the ILAR 2001 criteria and monitored at the Paediatric Rheumatology Unit of St. Mary Children’s Emergency Hospital, Iași, Romania, between 2017 and 2023, with the year 2020 excluded by design owing to the institutional reorganisation during the early COVID-19 pandemic. Autoimmune comorbidities were ascertained from medical records using ICD-10 coding and confirmed by subspecialty evaluation. The diagnostic approach for each comorbidity is reported in detail. Continuous variables are described using mean ± standard deviation, and categorical variables as frequencies (%). No inferential analysis was performed on predictor variables; the study is exploratory and hypothesis-generating. Results: Autoimmune comorbidity was identified in 21 of 103 children (20.4%; 95% confidence interval [CI] 13.1–29.5%), the JIA-AID subgroup. Patients were predominantly female (17 of 21, 81.0%) and aged over 12 years (10 of 21, 47.6%). Autoimmune thyroiditis was the most frequent comorbidity, present in 10 of 21 cases (47.6%) when the euthyroid, hypothyroid, and vitiligo-associated forms were combined, followed by inflammatory bowel disease (4 of 21, 19.0%), alopecia areata (4 of 21, 19.0%), localised scleroderma (2 of 21, 9.5%), and coeliac disease (1 of 21, 4.8%). Three patients (14.3%) had polyautoimmunity, defined as two or more autoimmune diagnoses in addition to JIA. The HLA-B27-positive enthesitis-related arthritis subtype, although small in absolute numbers, was over-represented within the JIA-AID subgroup: 5 of 7 HLA-B27-positive ERA patients (71.4%; 95% CI 29.0–96.3%) carried a coexisting autoimmune diagnosis, compared with 16 of 96 patients in the remainder of the cohort (16.7%; 95% CI 9.8–25.6%); the predominant comorbidity in this subtype was inflammatory bowel disease. Conclusions: Autoimmune comorbidity affected approximately one in five children with JIA in this single-centre cohort, with autoimmune thyroiditis and inflammatory bowel disease as the most frequent associations and a notable concentration of comorbidity within the HLA-B27-positive enthesitis-related arthritis subtype. These descriptive observations are hypothesis-generating and support the case for proactive multidisciplinary screening in selected subgroups. Prospective registry-based studies with explicit exposure classification and standardised functional outcomes will be needed to confirm the patterns reported here. Full article
(This article belongs to the Section Clinical Diagnosis and Prognosis)
19 pages, 2652 KB  
Article
LLM-Assisted Interpretation of Kinematic Gait Data in Children with Cerebral Palsy: A Pilot Study on Gait Deviation Detection and Surgical Group Recommendations
by Mehrdad Davoudi, Jacqueline Romkes, Michèle Widmer, Chris Easthope Awai and Elke Viehweger
Bioengineering 2026, 13(8), 862; https://doi.org/10.3390/bioengineering13080862 - 25 Jul 2026
Viewed by 416
Abstract
Three-dimensional instrumented gait analysis is widely used to guide surgical decision-making in children with cerebral palsy (CP), but its interpretation is time-consuming and prone to inter-rater variability. In this single-centre pilot study, we investigated whether a generative large language model (LLM) could consistently [...] Read more.
Three-dimensional instrumented gait analysis is widely used to guide surgical decision-making in children with cerebral palsy (CP), but its interpretation is time-consuming and prone to inter-rater variability. In this single-centre pilot study, we investigated whether a generative large language model (LLM) could consistently generate gait deviation findings and surgical procedure suggestions that align with expert judgement. Kinematic features for lower-limb joints across the gait cycle, stance, and swing were extracted from eight children with unilateral CP using the open-source GaitSharing Toolkit and a structured prompt, then submitted three times per patient to OpenAI’s GPT-5.5 model. The model assessed 28 kinematic deviations and 12 surgical procedure groups using majority voting. One gait analyst and two paediatric orthopaedic surgeons independently rated outputs on a 0–2 ordinal scale, blinded to all clinical information beyond the kinematic curves and diagnosis. Agreement was summarised descriptively as the percentage of the maximum attainable score with 95% confidence intervals (CIs), and quadratic-weighted Cohen’s kappa was used to quantify inter-surgeon agreement. Agreement with the gait expert was highest at the hip (90.6%) and lowest at the knee, particularly in the transverse plane (65.2%). For surgical procedures, agreement with the LLM reached 83.9% and 73.4% for the two surgeons, with the tibialis anterior procedure showing the lowest concordance. Inter-surgeon agreement was 79.2% (95% CI 71.9–85.4) with a kappa of 0.59 (0.47–0.70), indicating moderate agreement. The LLM showed high self-consistency (>90% across runs). These preliminary findings suggest that generative LLMs may be feasible as assistive tools in clinical gait analysis for deviation detection and future treatment planning and should be interpreted as hypothesis-generating, warranting confirmation in larger, more diverse cohorts. Full article
(This article belongs to the Special Issue Biomechanics of Human Motion)
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30 pages, 6560 KB  
Review
How Should Bacteriological Sampling Be Stratified in Paediatric Septic Arthritis? A Narrative Review with a Proposed Risk-Stratified Framework
by Pablo Rodriguez, Maxime Schilliger, Ahmer Khan, Giacomo De Marco, Oscar Vazquez, Andreas Tsoupras, Ardian Ramadani, Christina Steiger, Romain Dayer and Dimitri Ceroni
Antibiotics 2026, 15(8), 719; https://doi.org/10.3390/antibiotics15080719 - 24 Jul 2026
Viewed by 373
Abstract
Joint aspiration remains the gold standard and an urgent step in the diagnosis of paediatric septic arthritis (SA). Unlike in acute haematogenous osteomyelitis, it has both diagnostic and therapeutic value. No previous review has specifically addressed when bacteriological sampling is essential and when [...] Read more.
Joint aspiration remains the gold standard and an urgent step in the diagnosis of paediatric septic arthritis (SA). Unlike in acute haematogenous osteomyelitis, it has both diagnostic and therapeutic value. No previous review has specifically addressed when bacteriological sampling is essential and when it may reasonably be omitted. The bacteriological profile in children is highly age-dependent: Kingella kingae predominates before 4 years of age, whereas Staphylococcus aureus—including Panton–Valentine leukocidin (PVL)-producing and methicillin-resistant (MRSA) strains—predominates thereafter. We critically review the evidence through nine clinical questions and propose a conceptual risk-stratified framework in which the sampling approach is tailored to age and clinical context. In children younger than 4 years with a positive oropharyngeal K. kingae PCR and a mild clinical presentation—defined as CRP < 20 mg/L, absence of fever, and preserved weight-bearing—non-invasive confirmation may be sufficient. This proposal is explicitly hypothesis-generating: it is derived from observational data, it has not been validated prospectively, and it is not endorsed by current PIDS/IDSA or ESPID guidance. A positive oropharyngeal PCR alone is never sufficient, given the 10–12% asymptomatic carriage rate and the limited reliability of the Kocher–Caird criteria in this age group; the decision requires a cluster of concordant findings together with mandatory clinical and laboratory reassessment at 48–72 h and a low threshold for escalation to arthrocentesis. In children older than 4 years, arthrocentesis under general anaesthesia remains the standard approach, with pathogen identification and antimicrobial susceptibility testing as the primary microbiological determinants of therapy and toxin profiling as an adjunctive investigation in selected cases. Full article
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16 pages, 383 KB  
Systematic Review
Knowledge, Perception, and Clinical Experiences on Molar Incisor Hypomineralization Amongst Dental Professionals: A Systematic Review and Meta-Analysis
by Gabriela Balixa, Carlota Rodrigues, João Botelho, Vanessa Machado and Luísa Bandeira Lopes
J. Clin. Med. 2026, 15(14), 5591; https://doi.org/10.3390/jcm15145591 - 16 Jul 2026
Viewed by 350
Abstract
Background: Molar–incisor hypomineralization (MIH) is a common developmental enamel defect that presents important diagnostic and therapeutic challenges in pediatric dentistry. Differences in dental professionals’ knowledge and clinical confidence may affect patient care. Aim: To evaluate dental professionals’ awareness, diagnostic confidence, clinical management, referral [...] Read more.
Background: Molar–incisor hypomineralization (MIH) is a common developmental enamel defect that presents important diagnostic and therapeutic challenges in pediatric dentistry. Differences in dental professionals’ knowledge and clinical confidence may affect patient care. Aim: To evaluate dental professionals’ awareness, diagnostic confidence, clinical management, referral practices, and training related to MIH. Methods: A systematic review and meta-analysis were conducted in accordance with PRISMA guidelines. Random-effects meta-analyses were performed to calculate pooled estimates, with subgroup analyses by geographic region, dental specialty, and risk of bias. Results: Thirty-six observational studies including over 10,000 dental professionals were included. Awareness of MIH diagnostic criteria was moderate (72.1%) and higher among pediatric dentists than general dental practitioners. Diagnostic confidence (67.5%) and comfort in providing treatment (64.1%) were suboptimal, particularly among non-specialists. Most respondents perceived a distinct caries pattern in MIH-affected teeth (84.8%), while referral to pediatric dentists was inconsistent (52.5%). Approximately 80% of participants reported a need for additional MIH-related training. Substantial heterogeneity was observed across analyses. Conclusions: Despite moderate awareness of MIH, important gaps persist in diagnostic confidence, clinical management, and referral practices. Strengthening undergraduate education, continuing professional development, and structured referral pathways is essential to improve early diagnosis, appropriate management, and outcomes for children affected by MIH, highlighting the pivotal role of paediatric dentists in interdisciplinary care. Full article
(This article belongs to the Section Dentistry, Oral Surgery and Oral Medicine)
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