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Journal = JCM
Section = Clinical Pediatrics

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12 pages, 613 KB  
Case Report
Case Series: ADHD Phenotype in a Family with NPY Gene Microduplication
by Paolo Alfieri, Elisa Rolleri, Cristina Caciolo, Antonio Novelli, Giusy Viscogliosi, Silvia Genovese, Francesca Cumbo, Marco Cappa, Deny Menghini, Maria Cristina Digilio, Floriana Costanzo and Stefano Vicari
J. Clin. Med. 2026, 15(19), 7551; https://doi.org/10.3390/jcm15197551 - 29 Sep 2026
Abstract
Background: Neuropeptide Y is a highly conserved neuropeptide involved in several physiological processes, including stress regulation, appetite control, and cognitive functioning. Emerging evidence suggests that alterations in neuropeptide Y signaling may contribute to neurodevelopmental and behavioural phenotypes. This study describes a family [...] Read more.
Background: Neuropeptide Y is a highly conserved neuropeptide involved in several physiological processes, including stress regulation, appetite control, and cognitive functioning. Emerging evidence suggests that alterations in neuropeptide Y signaling may contribute to neurodevelopmental and behavioural phenotypes. This study describes a family carrying a microduplication involving the neuropeptide Y gene on chromosome 7p15.3, with the aim of exploring its potential association with attention deficit/hyperactivity disorder and specific cognitive vulnerabilities, particularly in the memory domain. Methods: Five individuals across three generations of one family carrying the duplication underwent comprehensive clinical and neuropsychological assessment, including standardized measures of intellectual functioning, attention, memory, adaptive skills, and psychopathology. Results: A consistent pattern of attentional difficulties was observed across affected individuals, accompanied by internalizing features such as anxiety. Cognitive evaluation revealed selective vulnerabilities in memory domains, involving both verbal and spatial components, across short- and long-term processes. Intellectual functioning ranged from borderline to average levels. In addition, increased body weight and hormonal imbalances were recurrently observed, indicating a possible contribution of neuropeptide Y dysregulation to metabolic phenotype in association with behavioural features. Conclusions: These findings support the hypothesis that duplication of the neuropeptide Y gene may be associated with a distinct neurobehavioural profile characterized by attentional difficulties, internalizing symptoms, and selective memory vulnerabilities. The co-occurrence of obesity further highlights the potential role of neuropeptide Y in linking metabolic and neurodevelopmental processes. Although based on a small familial sample, this study contributes to the characterization of genotype–phenotype correlations involving neuropeptide Y and underscores the need for further investigation in larger cohorts. Full article
(This article belongs to the Section Clinical Pediatrics)
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14 pages, 942 KB  
Article
Functional and Metabolic Correlates of Age- and Sex-Normalized Handgrip Strength in Children with Metabolic Dysfunction-Associated Steatotic Liver Disease
by Mohit Kehar, Carolina Jimenez-Rivera, Leah Feret, Shelley E. Keating, Patricia E. Longmuir and Jonathan G. Stine
J. Clin. Med. 2026, 15(19), 7519; https://doi.org/10.3390/jcm15197519 - 27 Sep 2026
Abstract
Background: To characterize associations of age- and sex-normalized handgrip strength with physical activity, functional status, fatigue, metabolic parameters, and liver disease characteristics in children with metabolic dysfunction-associated steatotic liver disease (MASLD). Methods: This cross-sectional analysis included a prospectively recruited pediatric MASLD [...] Read more.
Background: To characterize associations of age- and sex-normalized handgrip strength with physical activity, functional status, fatigue, metabolic parameters, and liver disease characteristics in children with metabolic dysfunction-associated steatotic liver disease (MASLD). Methods: This cross-sectional analysis included a prospectively recruited pediatric MASLD cohort. Maximum handgrip strength was measured using a Takei GRIP-A dynamometer following a protocol aligned with the Canadian Health Measures Survey and normalized using Canadian age- and sex-specific reference values. Low grip strength was defined as <25th percentile. Physical activity, functional status, and fatigue were assessed using the Physical Activity Vital Sign, Lansky Play-Performance Scale, and child- and parent-proxy PedsQL Multidimensional Fatigue Scale, respectively. Results: Fifty children were included (median age, 14.0 years; 70% male; median BMI z-score, 3.1). Low handgrip strength was present in 17/50 participants (34%). Normalized grip strength correlated inversely with controlled attenuation parameter (CAP; rho = −0.34, p = 0.024) and positively with HDL cholesterol (rho = 0.49, p < 0.001), weekly exercise (rho = 0.42, p = 0.003), and Lansky score (rho = 0.35, p = 0.012). Children with low grip strength had lower weekly exercise, Lansky scores, and HDL cholesterol. Median CAP was 318 dB/m in children with low grip strength and 296 dB/m in those without low grip strength (p = 0.085). Conclusions: Lower age- and sex-normalized handgrip strength was associated with lower physical activity, poorer functional status, lower HDL cholesterol, and higher CAP in children with MASLD. These findings support further study of handgrip strength as a simple functional measure in pediatric MASLD. Full article
(This article belongs to the Section Clinical Pediatrics)
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23 pages, 565 KB  
Article
Biomarkers for Early Detection of Postoperative Intra-Abdominal Abscess in Children with Perforated Appendicitis
by Bianka Dujić, Sara Vuković, Jana Buzuk and Marko Bašković
J. Clin. Med. 2026, 15(19), 7496; https://doi.org/10.3390/jcm15197496 - 26 Sep 2026
Abstract
Background/Objectives: Appendicitis is a common pediatric surgical emergency, with perforation leading to significant complications such as intra-abdominal abscesses. Current diagnostic methods are not sufficiently investigated in terms of timeliness, which emphasizes the need for reliable, non-invasive biomarkers for early signaling of postoperative [...] Read more.
Background/Objectives: Appendicitis is a common pediatric surgical emergency, with perforation leading to significant complications such as intra-abdominal abscesses. Current diagnostic methods are not sufficiently investigated in terms of timeliness, which emphasizes the need for reliable, non-invasive biomarkers for early signaling of postoperative abscess formation. This study aims to evaluate the associations between laboratory markers and postoperative intra-abdominal abscess formation in children treated for perforated appendicitis. Methods: This study retrospectively analyzed records of children treated for acute perforated appendicitis over ten years to identify differences in blood variables and clinical, radiological, and surgical factors between those who developed postoperative intra-abdominal abscesses and those who did not. Results: A total of 206 patients met the inclusion criteria. Of these, 30 developed an intra-abdominal abscess. Of the preoperative clinical factors, only rebound tenderness was significantly more present in the group that developed an abscess. Between the observed groups, leukocytes and neutrophils showed significant higher results in the group that developed an abscess at all observed time points, while C-reactive protein (CRP) showed a significant difference from the 4th postoperative day onwards. Neutrophil-to-lymphocyte ratio (NLR), neutrophil-to-monocyte ratio (NMR), monocyte-to-lymphocyte ratio (MLR), systemic immune-inflammation index (SII) and systemic inflammatory response index (SIRI) were significantly higher after 72 h, while SIRI showed a significant difference already after 24 h, and NLR and SII already within 24 h postoperatively. NLR and SIRI showed a significant mean percentage increase between samples taken on days 2 and 3 compared to samples taken on days 4 and 5. CRP showed a significantly smaller mean percentage decrease during this interval, as well as in the interval between samples taken on days 4 and 5, compared to samples taken on days 6 and 7. Looking at the preoperative variables of interest, neutrophil percentage was the only significant predictor. Because these serial postoperative comparisons were not corrected for multiple testing, they should be interpreted as exploratory rather than confirmatory. Conclusions: Blood biomarkers demonstrate significant postoperative changes within the early postoperative period that are associated with intra-abdominal abscess formation in children treated for perforated appendicitis. Full article
(This article belongs to the Section Clinical Pediatrics)
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11 pages, 221 KB  
Article
Clinical Characteristics and Management of Pediatric Facial Wounds with Documented Infection or Delayed Presentation: A 25-Year Retrospective Case Series
by Manuela Jaindl, Vanessa Groß, Lara Marie Bogensperger, Antonia Schwarz, Britta Chocholka and Stephan Payr
J. Clin. Med. 2026, 15(19), 7479; https://doi.org/10.3390/jcm15197479 - 25 Sep 2026
Viewed by 36
Abstract
Background/Objectives: Evidence on infected and delayed pediatric facial wounds outside the setting of animal bites is limited. This study characterized the anatomy, wound characteristics, management, and documented outcomes of pediatric facial wounds with documented infection or delayed/non-recent presentation. Methods: We retrospectively reviewed patients [...] Read more.
Background/Objectives: Evidence on infected and delayed pediatric facial wounds outside the setting of animal bites is limited. This study characterized the anatomy, wound characteristics, management, and documented outcomes of pediatric facial wounds with documented infection or delayed/non-recent presentation. Methods: We retrospectively reviewed patients younger than 18 years, identified by electronic free-text search, who presented at a single tertiary trauma center from 2000 to 2024. The hospital recorded 24,877 pediatric facial-wound presentations during the same period. Records were classified as clinically infected when the source dataset coded infection as present and as delayed/non-recent when infection was coded absent but the record described delayed or non-recent presentation. Descriptive analyses and exploratory two-sided Fisher exact tests used variable-specific denominators. Results: Of 92 screened records, 89 met the inclusion criteria: 61 were record-coded as clinically infected and 28 as delayed/non-recent. The selected cohort represented 0.36% of all pediatric facial-wound presentations. Perioral wounds accounted for 46/89 cases and forehead/periorbital wounds for 34/89. Wounds were superficial in 36/89 (40%), subcutaneous in 35/89 (39%), intramuscular in 15/89 (17%), and of unknown depth in 3/89 (3%). Initial closure was documented in 22/89 (25%). All eight dog-bite wounds occurred in the infected group, and none had been initially closed. Post-presentation antibiotics were documented in 48/58 (83%) evaluable infected and 5/28 (18%) delayed/non-recent records; admission was documented in 26/59 (44%) and 2/28 (7%), respectively. Conclusions: This case series describes a small, selected subset of pediatric facial-wound presentations. Mechanism, depth, anatomy, and management differed between the two record-defined groups, but the retrospective sampling and classification framework precludes causal or incidence inference. Full article
(This article belongs to the Section Clinical Pediatrics)
18 pages, 2357 KB  
Review
Updates in the Management of Short Bowel Syndrome Secondary to Intestinal Resection in the Pediatric Population
by Andrada-Lorena Gafton-Oghină, Elena Cernat, Elena Cojocaru, Solange Tamara Roșu, Laura Mihaela Trandafir, Jana Bernic, Viorel Țarcă, Alina Costina Luca, Dana Elena Mîndru and Elena Țarcă
J. Clin. Med. 2026, 15(18), 7291; https://doi.org/10.3390/jcm15187291 - 19 Sep 2026
Viewed by 145
Abstract
Background: Short bowel syndrome (SBS) secondary to intestinal resection is the most common cause of intestinal failure (IF) in children and is associated with prolonged parenteral support (PS), impaired growth, and substantial morbidity. SBS outcomes have improved dramatically over the past ten years [...] Read more.
Background: Short bowel syndrome (SBS) secondary to intestinal resection is the most common cause of intestinal failure (IF) in children and is associated with prolonged parenteral support (PS), impaired growth, and substantial morbidity. SBS outcomes have improved dramatically over the past ten years due to advancements in intestinal rehabilitation programs, nutritional approaches, pharmaceutical treatments, and surgical restoration. Objective: With an emphasis on surgical decision-making, intestinal rehabilitation, nutritional optimization, pharmacologic advancements and predictors of enteral autonomy, the goal is to thoroughly review and synthesize the most recent data on managing pediatric SBS after intestinal resection. Methods: This systematic review was conducted in accordance with the PRISMA 2020 statement using PubMed and Embase. Eligible primary clinical studies evaluated management strategies or clinically relevant outcomes in pediatric patients with SBS secondary to intestinal resection. Secondary evidence sources, including review articles and evidence-based position papers, were considered separately and were used to contextualize the primary findings and contemporary clinical recommendations. The methodological quality and risk of bias of primary studies were assessed using design-appropriate critical appraisal tools. Owing to substantial clinical and methodological heterogeneity, the evidence was synthesized qualitatively. Results: Multidisciplinary intestinal rehabilitation programs have become the mainstay of therapy, increasing the rates of enteral autonomy and improving survival. While optimal PS administration reduces intestinal failure–associated liver disease (IFALD) and catheter-related bloodstream infections (CRBSIs), early, organized enteral feeding encourages intestinal adaptation. Significant advances in decreasing PS requirements have been achieved by pharmacological therapies such as glucagon-like peptide-2 (GLP-2) analogs. Advances in multidisciplinary intestinal rehabilitation have reduced the need for intestinal transplantation and have refined patient selection for autologous bowel reconstruction. Consequently, procedures such as Serial Transverse Enteroplasty (STEP) and Longitudinal Intestinal Lengthening and Tailoring (LILT) are now reserved for highly selected patients with persistent bowel dilatation, dysmotility, and inadequate intestinal adaptation despite optimized nutritional and medical therapy. Conclusions: Following intestinal resection, pediatric SBS is now managed through multidisciplinary, protocol-driven intestinal rehabilitation. Outcomes have improved through the integration of nutritional, pharmacological, and surgical strategies tailored to each patient’s residual anatomy and adaptive potential. Future prospective pediatric studies are needed to standardize outcome measures and clarify the optimal timing and sequencing of nutritional, pharmacological, and surgical interventions during intestinal rehabilitation. Full article
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14 pages, 3395 KB  
Review
Indications for Biological Treatment Combined with Allergen-Specific Immunotherapy: Who Is It Really Intended for?
by Mirjana Turkalj and Ivana Banić
J. Clin. Med. 2026, 15(18), 7138; https://doi.org/10.3390/jcm15187138 - 14 Sep 2026
Viewed by 431
Abstract
Allergen-specific immunotherapy (AIT) is a well-proven treatment for allergic diseases and conditions such as Hymenoptera venom allergy, allergic rhinitis, allergic asthma, and, in recent years, food allergy. In order to enhance the efficacy and safety of allergen immunotherapy, biological agents such as omalizumab [...] Read more.
Allergen-specific immunotherapy (AIT) is a well-proven treatment for allergic diseases and conditions such as Hymenoptera venom allergy, allergic rhinitis, allergic asthma, and, in recent years, food allergy. In order to enhance the efficacy and safety of allergen immunotherapy, biological agents such as omalizumab and dupilumab have been introduced. The use of omalizumab, in combination with AIT, has proven to be an effective option in treating patients with allergic asthma and during food desensitization, particularly in the dose escalation phase when adverse reactions are more common. To date, only a small number of well-structured clinical trials have been published on the combined use of biologics and AIT in patients with Hymenoptera venom allergy. Ongoing clinical studies are evaluating the efficacy of dupilumab as monotherapy or as an adjunct therapy to oral immunotherapy in patients with peanut allergy. Research is also underway on the use of dupilumab in patients with multiple food allergies and as an adjunct therapy to oral immunotherapy in patients with cow’s milk protein allergy. Further studies are needed to determine the optimal dosing and duration of biological therapy in combination with AIT, as well as to identify patients who may benefit most from such treatment regimes. Full article
(This article belongs to the Special Issue New Clinical Advances in Pediatric Asthma)
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12 pages, 919 KB  
Article
Clinical Risk Factors and Outcomes of Spontaneous Hepatoblastoma Rupture in Children: A 10-Year Propensity Score-Matched Study
by Yun Peng, Yaoxing Wu, Lin Ma, Chengxian Yang, Jing Chen and Bo Xiang
J. Clin. Med. 2026, 15(18), 7102; https://doi.org/10.3390/jcm15187102 - 13 Sep 2026
Viewed by 154
Abstract
Background: Spontaneous rupture of hepatoblastoma is uncommon but potentially fatal in children. Published cohorts often combine spontaneous, traumatic, biopsy-related, and treatment-associated events. We aimed to identify clinical risk factors for spontaneous rupture and evaluate its prognostic impact. Methods: We retrospectively reviewed 106 children [...] Read more.
Background: Spontaneous rupture of hepatoblastoma is uncommon but potentially fatal in children. Published cohorts often combine spontaneous, traumatic, biopsy-related, and treatment-associated events. We aimed to identify clinical risk factors for spontaneous rupture and evaluate its prognostic impact. Methods: We retrospectively reviewed 106 children with pathologically confirmed hepatoblastoma treated at a tertiary center from July 2010 to July 2020. After excluding 10 with incomplete data or follow-up, 96 were eligible. Fourteen children who presented with spontaneous rupture were included in the rupture group. Eighty-two children without rupture were eligible as controls, and 42 were selected after 1:3 propensity score matching for age, sex, height, and weight. Subsequent analyses were restricted to the 1:3 propensity score-matched cohort. However, the matched-set identifier was not incorporated into the group comparisons, regression models, or survival analyses. Rupture was diagnosed by contrast-enhanced imaging and/or intraoperative findings. Logistic regression was used to identify independent risk factors. Exploratory two-predictor ridge regression and 2000-bootstrap internal validation were used to examine maximum tumor diameter and macrovascular invasion. Overall survival (OS) and event-free survival (EFS) were estimated using Kaplan–Meier analysis. Results: The rupture group had lower hemoglobin levels, larger tumors, more frequent bilobar disease, higher PRETEXT stage, and substantially more vascular invasion. Exploratory multivariable analysis suggested associations of maximum tumor diameter (OR 3.078, 95% CI 1.62–5.55) and macrovascular invasion (OR 13.521, 95% CI 1.16–148.23) with rupture. Given the small number of rupture events and the wide confidence interval for macrovascular invasion, these estimates should be interpreted cautiously and not as confirmation of independent risk factors. Macrovascular invasion was associated with rupture in crude analysis (odds ratio 8.00, 95% confidence interval 2.05–31.16) and the exploratory ridge model (adjusted odds ratio 2.89, 95% bootstrap confidence interval 1.27–7.93). The combined model incorporating maximum tumor diameter and macrovascular invasion showed an apparent area under the curve of 0.930 and an optimism-corrected area under the curve of 0.924. Children with ruptures had significantly worse OS and EFS than matched controls. Conclusions: Spontaneous rupture was associated with a clinically aggressive presentation characterized by substantially larger tumors, advanced local disease, and more frequent macrovascular invasion, and affected children had markedly lower OS and EFS estimates than matched controls. The results support tumor burden and macrovascular invasion as clinically relevant warning features that may help identify children requiring closer surveillance and early multidisciplinary planning. Full article
(This article belongs to the Section Clinical Pediatrics)
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16 pages, 4160 KB  
Article
Impact of Age on Success of 3D-Printed Cranial Remolding Orthoses for Deformational Head Shapes
by Emilia Cotter, Maria Araujo, Alyssa Juma, Jijia Wang and Tiffany Graham
J. Clin. Med. 2026, 15(18), 7002; https://doi.org/10.3390/jcm15187002 - 10 Sep 2026
Viewed by 432
Abstract
Background/Objectives: Previous studies regarding the efficacy of cranial remolding orthoses (CROs) have shown that earlier treatment initiation is associated with more favorable outcomes, but there are few studies utilizing 3D-printed CROs. This study evaluated the impact of treatment initiation age on the [...] Read more.
Background/Objectives: Previous studies regarding the efficacy of cranial remolding orthoses (CROs) have shown that earlier treatment initiation is associated with more favorable outcomes, but there are few studies utilizing 3D-printed CROs. This study evaluated the impact of treatment initiation age on the success of 3D-printed CROs in terms of morphological measurement changes and caregiver satisfaction. Methods: A total of 1054 infants who initiated treatment with a 3D-printed CRO during 2023 across six pediatric clinics in Canada were included in this retrospective cohort study. Participants were stratified by treatment initiation age (<6 months, 6–9 months, and 9–12 months) and deformational head shape: deformational plagiocephaly (DP), deformational brachycephaly (DB), or deformational asymmetric brachycephaly (DAB). Results: Relevant pre-treatment measurements for DP were CVAI = 7.98 ± 2.30, for DB were CR = 97 ± 4%, and DAB were CVAI = 7.22 ± 2.21 and CR = 95 ± 3%. All head shapes improved during treatment and overall caregiver satisfaction was high (94.4%). A total of 66.89% of participants achieved full correction of their cranial deformation (CR ≤ 90% and CVAI < 3.5), with the highest correction observed among the youngest infants for each head shape type. Cranial correction rates were highest for DP (76.85%), followed by DAB (57.73%) and DB (54.68%). The mean correction rate varied greatly between treatment initiation age and deformation type subgroups (21.74% to 82.73%). Conclusions: Treatment with 3D-printed CROs resulted in measurement improvement across all participants and caregiver satisfaction remained high. Earlier treatment initiation was associated with significantly better correction rates, supporting early referral and intervention whenever possible. These findings provide evidence to inform clinical recommendations and support caregivers in making decisions regarding treatment for cranial deformation and appear akin to the findings of studies utilizing traditionally fabricated CROs. Full article
(This article belongs to the Section Clinical Pediatrics)
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12 pages, 536 KB  
Article
Exercise-Induced Bronchoconstriction in School-Aged Children Born Very Preterm: Prevalence and Associated Clinical Factors
by Ercan Yılmaz, Nezihe Koker Ozer, Hatice Turgut, Erdem Topal, Ramazan Özdemir, Recep Gunakın and Mehmet Aslan
J. Clin. Med. 2026, 15(18), 6995; https://doi.org/10.3390/jcm15186995 - 10 Sep 2026
Viewed by 191
Abstract
Background: Children born preterm may have persistent alterations in airway function that extend into school age; however, exercise-induced bronchoconstriction (EIB) in this population remains insufficiently characterized. This study aimed to determine the prevalence of EIB in school-aged children born at ≤32 weeks of [...] Read more.
Background: Children born preterm may have persistent alterations in airway function that extend into school age; however, exercise-induced bronchoconstriction (EIB) in this population remains insufficiently characterized. This study aimed to determine the prevalence of EIB in school-aged children born at ≤32 weeks of gestation and to investigate associated clinical and neonatal factors. Methods: This single-center cross-sectional study included 42 children born at ≤32 weeks of gestation who were evaluated at 7–8 years of age. Perinatal, neonatal, respiratory, and atopic characteristics were obtained from medical records and parental reports. Baseline spirometry was performed before a standardized treadmill exercise challenge. Spirometry was repeated at 5, 10, 15, and 30 min after exercise. EIB was defined as a ≥10% decrease in forced expiratory volume in one second (FEV1) from baseline at any post-exercise time point. Results: The median gestational age was 29 (25–32) weeks, and 31% had a history of bronchopulmonary dysplasia. EIB was identified in 13 of 42 children (31%). Post-exercise EIB positivity was observed at 5, 10, 15, and 30 min in 9.5%, 16.7%, 11.9%, and 9.5% of participants, respectively. Dyspnea was the most frequent exercise-related symptom (38%). No significant differences were observed between EIB-positive and EIB-negative children regarding gestational age, birth weight, bronchopulmonary dysplasia, neonatal respiratory support, baseline pulmonary function, total IgE, or peripheral eosinophil count. Conclusions: EIB was detected in approximately one-third of school-aged children born at ≤32 weeks of gestation. These findings suggest that clinically relevant exercise-related airway hyperresponsiveness may persist into school age despite relatively preserved baseline spirometry. Full article
(This article belongs to the Section Clinical Pediatrics)
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26 pages, 67440 KB  
Review
Challenges in Reconstruction and Limb Lengthening Surgery for Congenital Lower Limb Deficiencies
by Milud Shadi, Eliza Kortus and Piotr Janusz
J. Clin. Med. 2026, 15(18), 6951; https://doi.org/10.3390/jcm15186951 - 8 Sep 2026
Viewed by 211
Abstract
Background/Objectives: Lower limb congenital deficiencies represent challenging disorders that require a complex strategy for limb reconstruction and lengthening procedures guided by the anatomical type and severity of the deformity. This review aims to summarize current treatment approaches in limb reconstruction and lengthening [...] Read more.
Background/Objectives: Lower limb congenital deficiencies represent challenging disorders that require a complex strategy for limb reconstruction and lengthening procedures guided by the anatomical type and severity of the deformity. This review aims to summarize current treatment approaches in limb reconstruction and lengthening for patients with common congenital lower limb deficiencies, including fibular hemimelia, congenital femoral deficiency, and tibial hemimelia. Methods: A literature search was conducted using major databases, complemented by the senior author’s clinical experience and case series, to identify relevant studies and current procedures for the management of common congenital lower limb deficiencies, including limb reconstruction and lengthening techniques. Results: The various clinical presentation and classification systems of congenital lower limb deficiencies are presented, as well as up to date surgical techniques including limb reconstruction and lengthening. These approaches demonstrated effectiveness in congenital limb deficiencies management by facilitating joint stabilization and subsequent limb lengthening, leading to improved functional outcomes. However, significant challenges persist, including prolonged treatment duration and patient discomfort. Modern surgical approaches have significantly improved the outcomes of treatment for congenital limb deficiencies. However, the complexity of these clinical entities requires individualized treatment strategies. Conclusions: Successful management of congenital lower limb deficiencies relies on individualized, patient-specific treatment planning, incorporating preparatory surgical interventions and sequential limb lengthening procedures to maximize functional outcomes. Full article
(This article belongs to the Special Issue New Progress in Pediatric Orthopedics and Pediatric Spine Surgery)
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12 pages, 358 KB  
Article
Recorded Contingent Caregiver Voice Independently Improves Neural Speech Processing in Hospitalized Preterm Infants: A Multisite Randomized Controlled Trial
by Caitlin P. Kjeldsen, Megan Moran, Arnaud Jeanvoine, Joshua Lukemire, Gordon Ramsay, A. Joselyn Barahona and Nathalie L. Maitre
J. Clin. Med. 2026, 15(17), 6880; https://doi.org/10.3390/jcm15176880 - 5 Sep 2026
Viewed by 225
Abstract
Background/Objectives: The atypical NICU auditory environment can disrupt neural plasticity critical for language development in preterm infants. Recorded caregiver’s voice offers input when bedside presence is infeasible, and evidence suggests contingency, delivering the recording in response to infant behavior, is key to [...] Read more.
Background/Objectives: The atypical NICU auditory environment can disrupt neural plasticity critical for language development in preterm infants. Recorded caregiver’s voice offers input when bedside presence is infeasible, and evidence suggests contingency, delivering the recording in response to infant behavior, is key to its benefit. This study tested whether caregiver’s recorded voice contingent on non-nutritive sucking (NNS) enhances neural speech processing beyond passive exposure. Methods: This randomized controlled trial enrolled preterm infants born before 35 weeks gestational age (GA), and between 32 0/7–35 6/7 weeks corrected GA at start. Infants were randomized to an intervention group receiving caregiver’s voice contingent on NNS, or a control group receiving passive voice exposure. Primary outcomes were post-intervention auditory ERP responses at left (T5) and right (T6) temporal locations, adjusted for pre-intervention EEG. Sensitivity analyses controlled for GA and maternal education; secondary analyses examined bed type, room type, and sound levels. Results: Of 214 infants enrolled, 97 intervention and 94 control infants completed the protocol (median GA 31.9 weeks, median corrected GA at start 33.9 weeks). The intervention group showed significantly greater speech-sound processing at T5 (β = 0.023, 95% CI [0.002, 0.044], p = 0.036, d = 0.31), with a borderline effect at T6 (β = 0.022, 95% CI [0.000, 0.045], p = 0.054, d = 0.28), both strengthened in sensitivity analyses. No significant interactions emerged with bed type, room type, or sound level. Conclusions: Contingent, infant-activated caregiver-voice exposure improves auditory ERP responses in preterm infants, independent of environmental factors, suggesting active engagement, not voice alone, as the driver of change. Further studies are warranted. Full article
(This article belongs to the Section Clinical Pediatrics)
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11 pages, 831 KB  
Article
Documented Bladder Volume-Guided Timing and First-Attempt Pediatric Uroflowmetry Process Adequacy: A Retrospective Workflow Cohort Study
by Yusuf Atakan Baltrak, Hasan Deliağa and Burak Bal
J. Clin. Med. 2026, 15(17), 6849; https://doi.org/10.3390/jcm15176849 - 4 Sep 2026
Viewed by 229
Abstract
Background/Objectives: Pediatric uroflowmetry is volume dependent, and low-volume voids can yield recordings that require repetition or cannot be interpreted confidently. To evaluate whether documented bladder volume-guided timing was associated with first-attempt pediatric uroflowmetry process adequacy in children undergoing evaluation for suspected non-neurogenic lower [...] Read more.
Background/Objectives: Pediatric uroflowmetry is volume dependent, and low-volume voids can yield recordings that require repetition or cannot be interpreted confidently. To evaluate whether documented bladder volume-guided timing was associated with first-attempt pediatric uroflowmetry process adequacy in children undergoing evaluation for suspected non-neurogenic lower urinary tract dysfunction. Methods: This single-center retrospective workflow cohort included 110 toilet-trained children aged 5–12 years who underwent uroflowmetry for suspected non-neurogenic lower urinary tract dysfunction. The exposure was classified from contemporaneous pre-test documentation as bladder volume-guided timing (n = 55) or standard urge-based timing (n = 55). Expected bladder capacity (EBC) was calculated as (age + 1) × 30 mL. The primary process outcome was first-attempt voided volume ≥ 50% EBC. Repetition after an inadequate first attempt was treated as a deterministic workflow consequence rather than an independent endpoint. Analyses were observational and effect estimates were interpreted as associations. Results: Adequate first-attempt voided volume was documented in 50/55 children (90.9%) with bladder volume-guided timing and 39/55 (70.9%) with standard urge-based timing (unadjusted risk ratio 1.28, 95% confidence interval [CI] 1.06–1.55; Newcombe risk difference 20.0 percentage points, 95% CI 5.3–34.0). After adjustment for age, baseline urgency score, and time since last void, the association remained (adjusted risk ratio 1.27, 95% CI 1.06–1.53; p = 0.011), and the model converged without numerical warnings. Using the age-specific lowest acceptable voided volume, adequacy occurred in 53/55 children (96.4%) versus 46/55 (83.6%) (adjusted risk ratio 1.15, 95% CI 1.01–1.31; p = 0.040). Repetition after an inadequate first attempt occurred in 9.1% versus 29.1% and was treated as a direct consequence of primary-threshold failure; it was not tested independently. Workflow-time measures were exploratory. Conclusions: Documented bladder volume-guided timing was associated with greater first-attempt process adequacy. Adjustment for age, baseline urgency score, and time since last void did not materially change the estimate. The association was attenuated but remained directionally consistent when the age-specific lowest acceptable voided volume was used. Because the timing rule deliberately targeted the same volume construct as the primary outcome, this finding does not establish improved diagnostic accuracy, clinical decision making, or patient outcomes. Retrospective exposure classification and routine documentation further preclude causal interpretation. Documented bladder volume-guided timing was associated with higher first-attempt achievement of a prespecified voided-volume threshold than standard urge-based timing. Because the pathway targeted the same volume construct used to define the primary outcome and was non-randomized, these findings are interpreted as hypothesis-generating workflow data rather than evidence of improved diagnostic accuracy or downstream clinical benefit. Full article
(This article belongs to the Special Issue Clinical Updates on Pediatric Surgery)
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19 pages, 5133 KB  
Article
International Imaging Practices for Sacroiliac Joint MRI Acquisition Protocols in Patients with Juvenile Spondylarthritis
by Arthur B. Meyers, Mirkamal Tolend, Walter P. Maksymowych, Rawan Hafiz, Tarimobo M. Otobo, Jacob L. Jaremko, Robert G. W. Lambert, Nele Herregods, Marion A. J. van Rossum, Jennifer Stimec, Simone Appenzeller, Shirley Tse, Philip G. Conaghan, Lennart Jans, John A. Carrino, Eva Kirkhus, Joke Dehoorne, Pamela F. Weiss and Andrea S. Doria
J. Clin. Med. 2026, 15(17), 6816; https://doi.org/10.3390/jcm15176816 - 2 Sep 2026
Viewed by 354
Abstract
Background/Objective: International recommendations exist for MRI evaluation of sacroiliac joints (SIJs) in adult spondylarthritis (SpA) and other joints in juvenile (J)SpA. However, consensus recommendations for MRI acquisition protocols for SIJs in JSpA are lacking. Our survey gathered information on current imaging practices [...] Read more.
Background/Objective: International recommendations exist for MRI evaluation of sacroiliac joints (SIJs) in adult spondylarthritis (SpA) and other joints in juvenile (J)SpA. However, consensus recommendations for MRI acquisition protocols for SIJs in JSpA are lacking. Our survey gathered information on current imaging practices on SIJ MRI and expert opinions about imaging protocols. Methods: A survey was sent to an international group of pediatric radiologists and rheumatologists. Participants were asked about practices regarding sequences/planes, use of contrast, and preferred sequences/planes for evaluating individual lesions. Results: There were 38 unique survey respondents (North America, n = 19; South America, n = 1; Europe, n = 12; Asia, n = 2; Australia, n = 2; unknown = 2) from 32 institutions with a median of 15 (range 3–32) years of experience. Most (93%) institutions use the 2nd sacral vertebral body posterior cortex to plan coronal oblique sequences; most perform these as non-fat-suppressed T1W and fluid-sensitive sequences for evaluation of damage and inflammation, respectively. Among the 84% of institutions performing small field-of-view imaging, all include a coronal oblique plane, and 78% also do an axial oblique plane. Of all institutions, 22% utilize gradient echo (GRE) sequences. Most respondents (79%) did not consider contrast necessary for evaluating SIJs. Conclusions: Areas of agreement for a consensus MRI protocol for SIJ evaluation in JSpA include using a non-contrast-enhanced protocol and the S2 vertebral body posterior cortex to plan coronal oblique sequences. Further international consensus is required concerning the optimal scan plane to prescribe for axial sequences and the incorporation of an erosion-specific sequence into standard protocols. Full article
(This article belongs to the Section Clinical Pediatrics)
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21 pages, 7265 KB  
Article
Composition and Function of Decellularized Human Lung Extracellular Matrix from Congenital Pulmonary Airway Malformation
by Yanan Li, Ping Yang, Miao Yuan, Xinglong Zhu, Shengqiang Mao, Ying Yang, Menglin Yao, Fei Chen, Yanyan Zhou, Ji Bao, Chang Xu and Yi Li
J. Clin. Med. 2026, 15(17), 6742; https://doi.org/10.3390/jcm15176742 - 30 Aug 2026
Viewed by 279
Abstract
Background: Congenital pulmonary airway malformation (CPAM) is a rare developmental disorder characterized by cystic lung lesions, yet its extracellular matrix (ECM) composition remains poorly understood. This study employed decellularization and data-independent acquisition (DIA) proteomics to compare ECM profiles between cystic (CPAM) and [...] Read more.
Background: Congenital pulmonary airway malformation (CPAM) is a rare developmental disorder characterized by cystic lung lesions, yet its extracellular matrix (ECM) composition remains poorly understood. This study employed decellularization and data-independent acquisition (DIA) proteomics to compare ECM profiles between cystic (CPAM) and histologically normal non-diseased (ND) regions from the lungs of four patients. Results: The decellularized scaffolds retained their native architecture with minimal residual DNA (<50 ng/mg). Proteomic analysis revealed 431 differentially expressed proteins (DEPs), with 171 upregulated and 260 downregulated in CPAM. Key findings revealed CPAM-specific enrichment of collagens (COL4A6, COL4A2, COL10A1, COL21A1 and PIIINP), glycoproteins (SPP1, FRAS1, FREM1, FREM2, LTBP1 and FBLN7), ECM regulators (TENM2, ROR2 and OMD), and ECM-affiliated proteins (ANXA7), alongside downregulation of glycoproteins (VASN and ABI3BP), proteoglycans (PODN and MXRA7), ECM regulators (SCARA5, PAPPA, SAA4, CPXM1, CTSC, THY1, SERPINA6/A1/D1, BSG, LYVE1, ITIH4 and CD44), and ECM-affiliated proteins (LGALSL). Pathway analysis highlighted the dysregulation of TGF-β, PI3K–AKT, and mTOR signaling in CPAM and aberrant ECM–cell interactions in pathogenesis. We also evaluated their functional properties and investigated the impact of ECM-based hydrogels on recellularization. Conclusions: These findings provide a comprehensive proteomic atlas of CPAM ECM alterations, offering insights into disease mechanisms and potential therapeutic targets. Full article
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16 pages, 653 KB  
Article
Peripheral Airway Dysfunction Assessed by Impulse Oscillometry in School-Aged Children Born Preterm: A Cross-Sectional Comparative Study
by Nezihe Koker Ozer, Ercan Yılmaz, Hatice Turgut, Erdem Topal, Ramazan Ozdemir, Recep Gunakın and Mehmet Aslan
J. Clin. Med. 2026, 15(17), 6692; https://doi.org/10.3390/jcm15176692 - 28 Aug 2026
Viewed by 215
Abstract
Background: Preterm birth may result in persistent alterations in peripheral airway development. We aimed to compare impulse oscillometry (IOS) parameters between school-aged children born preterm and healthy term-born controls and to investigate factors associated with peripheral airway dysfunction. Methods: This cross-sectional comparative study [...] Read more.
Background: Preterm birth may result in persistent alterations in peripheral airway development. We aimed to compare impulse oscillometry (IOS) parameters between school-aged children born preterm and healthy term-born controls and to investigate factors associated with peripheral airway dysfunction. Methods: This cross-sectional comparative study included 46 children born at ≤32 weeks of gestation and 40 independently recruited healthy term-born controls. IOS parameters, including R5, R20, R5–R20, X5, X20, AX, and Fres, were assessed. Multivariable linear regression was used to evaluate whether between-group differences persisted after adjustment for anthropometric measures. Results: Children born preterm had significantly higher R5 (0.75 vs. 0.48 kPa·s/L), R5–R20 (0.37 vs. 0.19 kPa·s/L), and AX (2.93 vs. 1.41 kPa/L) than controls (all p = 0.001), whereas R20, X5, X20, and Fres did not differ significantly. R5–R20 was the most frequently abnormal IOS parameter in the preterm group (34.8%). After adjustment for age, height z-score, and weight z-score, prematurity remained significantly associated with higher R5 (p = 0.005), R5–R20 (p < 0.001), and AX (p = 0.002). No significant associations were identified between R5–R20 and gestational age, bronchopulmonary dysplasia, mechanical ventilation, or other evaluated neonatal characteristics. Conclusions: School-aged children born preterm exhibit persistent differences in peripheral airway mechanics that are not explained by anthropometric differences. IOS may provide a useful complementary tool for long-term respiratory assessment after preterm birth. Full article
(This article belongs to the Section Clinical Pediatrics)
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