Search Results (4,532)

Background/Objectives: High-grade vesicoureteral reflux (VUR) may require definitive reconstruction when conservative or endoscopic management fails. Although robot-assisted ureteral reimplantation is increasingly used in children, published experience has predominantly involved an extravesical approach or multiport intravesical surgery. We describe a pure intravesical Cohen reimplantation performed with the da Vinci Single Port (SP) system. Case Presentation: A 7-year-old girl had recurrent febrile urinary tract infections and acute pyelonephritis despite two previous dextranomer/hyaluronic acid copolymer injections. Voiding cystourethrography demonstrated persistent bilateral VUR (right grade V and left grade IV). Technetium-99m dimercaptosuccinic acid renal scintigraphy showed differential renal function of 38.98% on the right and 61.02% on the left, with cortical defects consistent with renal scarring. She underwent single-port robot-assisted pneumovesicoscopic bilateral Cohen ureteral reimplantation. The previous injectable material was removed, bilateral cross-trigonal submucosal tunnels were created, and both ureters were reimplanted with interrupted 5-0 polyglactin sutures. The total anesthesia duration, operative duration and console duration was 375 min, 310 min and 250 min, respectively. There was minimal blood loss and no drainage tubes or Double J stents were placed. No intraoperative complication occurred. A transient episode of emesis with stool impaction on postoperative day 2 resolved after a glycerin enema and brief bowel rest. She tolerated a regular diet by postoperative day 4 and was discharged on postoperative day 5. At early 6-month follow-up, the patient remained symptom free and ultrasonography showed no obstruction. Conclusions: This case demonstrates the technical feasibility of a pure intravesical da Vinci SP Cohen reimplantation in a child with refractory bilateral high-grade VUR. Comparative effectiveness of different approaches and longer clinical follow-up are required in the future. Full article

Objectives: This study aimed to examine the relationships between refractive error and axial length (AL) and body composition parameters, including obesity-related indices, in 8-year-old children enrolled in the Japan Environment and Children’s Study (JECS). Methods: From 2019 to 2022, data from the right eyes of 1866 children aged 8 years enrolled in the JECS adjunct study were analyzed. AL, noncycloplegic spherical equivalent (SE), and uncorrected visual acuity were measured. Relationships of these ocular parameters with height, weight, muscle mass, body fat percentage, the Rohrer index, and sex were evaluated. Results: The mean AL was 23.09 mm, and the mean SE was −0.52 D in the right eye. Despite the correlations of the Rohrer index with SE (r = 0.05, p = 0.02), uncorrected visual acuity expressed as logMAR (r = −0.07, p = 0.005) and AL (r = −0.06, p = 0.02) reached nominal statistical significance, and all correlation coefficients were close to zero, indicating no meaningful linear correlations. SE and logMAR showed no meaningful correlations with height, weight, muscle mass, or body fat percentage. AL showed small positive correlations with height (r = 0.17, p < 0.001) and muscle mass (r = 0.14, p < 0.001); its correlation with weight was negligible (r = 0.07, p = 0.004), and no meaningful correlation was observed with body fat percentage. Conclusions: Among 8-year-old children, the Rohrer index showed no meaningful linear correlation with refractive error, uncorrected visual acuity, or AL despite having nominally significant p-values. AL showed small positive correlations with height and muscle mass, suggesting a limited cross-sectional relationship with overall somatic size; however, the small effect sizes preclude strong conclusions. Because refraction was measured without cycloplegia, the SE findings should be interpreted cautiously, as accommodation may have shifted measurements in the myopic direction. Full article

Sleep facilitates memory consolidation across the lifespan, but few studies have investigated underlying mechanisms in early development. The present study assessed the role of sleep timing after a social learning situation for action memory in seventy-six 4-year-old children and tested if source monitoring errors explain potential sleep effects (preregistration doi: 10.17605/OSF.IO/QSD2E). We employed a mixed-design combining an experimental within-subject manipulation of social interaction (high-vs.-low-collaboration condition) with an observational component measuring latency to nighttime sleep onset at T1. At T1, children participated in a social learning task scheduled at different times across the day to vary the interval between encoding and nighttime onset. Immediately following the task at T1, and again two weeks later, children’s memory for which actions had been performed (action memory) and who had performed them (agent memory, as an indicator of source memory) was assessed behaviorally. Sleeping behavior and the latency to nighttime sleep was assessed using actigraphy. Contrary to expectations, both action and agent memory were unrelated to latency to nighttime sleep onset after social learning and, in exploratory analyses, to sleep efficiency and sleep duration in the night following learning. Methodological aspects including the retention interval and task difficulty might have contributed to the unexpected results. Full article

Gallbladder diverticulum is an exceptionally rare congenital anomaly in children, with only isolated cases reported in the literature. We describe a 10-year-old girl with epilepsy and constipation who presented twice within 15 days with diffuse abdominal pain. Physical examination revealed generalized abdominal tenderness, and laboratory tests were unremarkable. Abdominal ultrasonography showed mild hepatic steatosis and a small fundal gallbladder outpouching measuring approximately 7 mm × 9 mm, suggestive of a diverticulum. Computed tomography (CT) also suggested a small fundal gallbladder diverticulum-like lesion. Notably, the family reported that the patient’s older sister had undergone cholecystectomy for gallstones, during which a gallbladder diverticulum-like lesion was identified; however, because the event had occurred approximately 15 years earlier, only the first abdominal ultrasound report was available for review, and no histopathological reports could be retrieved. The scoping review systematically mapped the available evidence and confirmed that published pediatric experience remains extremely limited. Only two previously published pediatric cases were identified. Given the absence of complications for our patient, conservative management with gastroenterology follow-up was adopted. This case highlights the rarity of congenital gallbladder diverticulum in childhood, the diagnostic challenge of distinguishing true diverticula from anatomical variants, and the importance of correlating imaging findings with the clinical presentation. Full article

Background/Objectives: Paediatric pulmonary embolism (PE) is rare but potentially lethal, and its diagnosis is complicated by non-specific presentations and multiple predisposing risk factors. We describe a 15-year-old girl who presented with features of pulmonary hypertension and was found to have extensive pulmonary embolism with right heart strain. Methods: The diagnosis was established with echocardiography, computed tomography pulmonary angiography (CTPA), and Doppler ultrasonography. Results: Her predisposing risk factors comprised obesity (BMI 33 kg/m²), a family history of thrombosis, and heterozygous Factor V Leiden. In retrospect, a six-week illness treated as bronchitis, with haemoptysis and exertional syncope, was the probable index embolic event; the markedly elevated right-sided pressures tolerated without haemodynamic collapse indicate a right ventricle that had adapted over that interval. Anticoagulation with low-molecular-weight heparin, titrated to anti-factor Xa activity, was followed by a vitamin K antagonist while antiphospholipid syndrome was excluded and then by rivaroxaban, with clinical, biochemical, and radiographic improvement. Conclusions: This report underscores the need for greater awareness of PE in children, the value of Full article

Background: Previously identified asthma-susceptibility genes account for a small part of asthma heritability and their role in asthma pathogenesis is unclear. We explored associations between genetic variants in the 17q21 locus, CDHR3 (cadherin-related family member 3), coding a receptor for Rhinovirus-C, preschool wheeze and asthma at 7 years. Methods: Four genetic variants in the 17q21 locus (rs8076131, rs12603332, rs8079416, rs3859192) and rs6967330 in CDHR3 were studied regarding associations with preschool wheeze and asthma at 7 years. We compared 125 cases, enrolled during an acute wheezing episode, with 96 healthy controls at preschool age (6–45 months). A total of 99 of 125 children attended the follow-up at 7 years old. Cases with asthma (N = 68) and without asthma (N = 31) at 7 years old were compared regarding genetic variants and other clinical parameters. Results: Rs8076131 (AA vs. GG) was associated with preschool wheeze (OR 3.50, p = 0.001), and asthma at 7 years (OR 8.55, p = 0.002). Rs12603332 (CC vs. TT) was related to asthma at 7 years irrespective of rhinovirus infection at inclusion or current signs of airborne allergy (aOR 7.17, p = 0.016). The association of rs6967330 with asthma was restricted to children with specific genotypes in the 17q21 locus; rs8076131-AA (p = 0.028), rs8079416-CC (p = 0.006), and rs3859192-TT (p = 0.042). Rhinovirus infection at inclusion was significantly related to asthma exclusively in homozygotes rs8079416-CC (p = 0.032) and rs3859192-TT (p = 0.027). Conclusions: Our results highlight the impact of asthma heritability by reporting strong associations between the 17q21 locus and asthma in a high-risk cohort. The association of rs6967330 in CDHR3 and early-life rhinovirus infection with asthma at school age might be dependent on specific genotypes in the 17q21 locus. Full article

Background: For vitamin D, the US National Academies of Sciences, Engineering, and Medicine (NASEM) suggest serum 25-hydroxyvitamin D (25(OH)D) >125 nmol/L is linked to potential toxicity. The European Food Safety Authority (EFSA) recommends that daily doses up to 2000 IU (50 µg) are safe for children aged 1–10 years, and 4000 IU (100 µg) for those aged 11 years and over. We evaluated the consistency between these two guidelines. Methods: We compiled accessible under 18’s clinical trial data for external validation. We tested published physiologically based pharmacokinetic (PBPK) models. We used simulations to explore the serum 25(OH)D pharmacokinetic profiles in children (6–10) and adolescents (11–17). We fitted a new model to the external validation data. Results: Our PBPK model, previously developed for healthy adults, made good predictions for the mean of the validation data. Model simulations suggested the mean should attain serum 25(OH)D > 115 nmol/L among 6-year-old children who take 2000 IU daily, and >125 nmol/L for 11- to 12-year-olds who take 4000 IU daily. We also presented clinical data to demonstrate that 4000 IU daily dosing increased serum 25(OH)D >125 nmol/L in a large proportion of healthy adults. Model parameters for the Cape Town children and the US and European children are different. Conclusions: This analysis highlights the inconsistency between the NASEM and EFSA guidelines and warrants the need for further pharmacokinetic modelling work to support the development of vitamin D safety parameters and guidelines. Our modelling suggests that the currently adopted 125 nmol/L threshold may warrant re-evaluation, as the supporting evidence appears heterogeneous and limited. Full article

Language mixing is a common feature of bilingual environments, yet its effects on bilingual children’s word learning remain inconsistent across studies. The present study examined how language mixing affects novel word learning in 3- to 4-year-old Korean–English bilinguals, extending previous work to an understudied language pair with a greater language distance than those studied previously. Following an established experimental paradigm, children were taught novel words embedded in either single-language or mixed-language sentences during a looking-while-listening task. For half the children, carrier sentences introduced the novel words in their dominant language; for the other half, they were introduced in their non-dominant language. Overall, children successfully mapped the novel word to referents in the single-language context but showed difficulty doing so in the intra-sentence code-switched language context. However, learning patterns diverged by the dominance of the carrier language; when carrier phrases were presented in a non-dominant language, language mixing significantly affected children’s novel word learning, supporting learning only in a single-language context. No difference in language mixing was observed when the carrier language was dominant. These findings partially replicate and extend prior work on the effects of language mixing on young bilingual learners’ word learning, suggesting that the costs of language mixing vary across learning contexts, depending on the specific switching directionality between two distant languages. Full article

Introduction and Clinical Significance: Skeletal dysplasias comprise a genetically heterogeneous group of disorders with substantial phenotypic overlap, often complicating diagnosis. Clinical exome sequencing (CES) can facilitate molecular diagnosis in children with unexplained disproportionate short stature. Case Presentation: An 8-year-old boy presented with severe short stature (−3.24 SDS), brachydactyly, relative macrocephaly, broad nasal bridge, and mild calf hypertrophy. Endocrine evaluation confirmed growth hormone deficiency (GHD). Following negative SHOX testing, CES identified a heterozygous likely pathogenic IHH variant (c.446G>A; p.Arg149His), establishing the diagnosis of brachydactyly type A1 (BDA1). Recombinant human growth hormone (rhGH), initiated for GHD, resulted in improved growth velocity and height SDS. Transient unilateral prepubertal gynecomastia developed during treatment and resolved after temporary rhGH withdrawal, with no recurrence following reinitiation. Conclusions: This case highlights the diagnostic value of CES in children with disproportionate short stature after unrevealing targeted testing and illustrates that GHD may coexist with IHH-related skeletal dysplasia. An integrated genetic and endocrine evaluation can refine diagnosis, identify coexisting treatable endocrine disorders, and guide individualized management. Full article

Pott’s disease, also known as tuberculous spondylodiscitis, accounts for 50% of all forms of skeletal tuberculosis. It is rare in children, especially in low-burden TB countries. We present a case of Pott’s disease with miliary tuberculosis in a 22-month-old child. Furthermore, we provide an exploratory literature review of pediatric cases published in PubMed and Scopus between January 2000 and August 2025, including patients aged 0 to 17 years with confirmed or clinically diagnosed tuberculous spondylodiscitis. Sixty-four cases were included. Most cases (81.3%) involved children from highly endemic countries, particularly India. Median age was 10 years, with a median diagnostic delay of 141.4 days. The most common signs and symptoms were back pain (79.6%), followed by difficulty walking (68.4%). The thoracic spine was the most affected segment (60.3%). Sixty-three received anti-TB therapy, 58% required surgical intervention, and treatment led to overall clinical recovery in 96.9% of cases. Neurological deficits were reported in 46% (paresthesia) and 68.4% (motor weakness), with permanent motor sequelae in 8.1% and persistent spinal deformity (kyphosis) in 14.5%. Our case highlights the importance of considering the suspicion of tuberculous spondylodiscitis, even in low-endemic countries, to achieve early diagnosis and appropriate therapeutic management. Early MRI combined with microbiological confirmation is essential to reduce the risk of severe complications, including neurological sequelae, progressive spinal deformities, and potentially life-threatening outcomes in growing patients. Full article

Background/objectives: Antimicrobial stewardship (AMS) is essential to optimize antibiotic use and limit antimicrobial resistance (AMR), particularly in pediatric populations where diagnostic uncertainty and system constraints complicate care. This study investigated critical AMS indicators, namely, missed antibiotic doses, microbiological diagnostics, and antibiotic prescribing at hospital discharge, which are key challenges that may affect treatment outcomes in hospitalized children under five years old. Methods: A prospective descriptive study was conducted in two tertiary pediatric hospitals in Zambia among children aged 29 days to 59 months. Information on missed antibiotic doses, microbiological investigations, and antibiotic prescribing at discharge from hospitalization was obtained from medical records and medication charts. Results: Patients experienced 1–8 missed doses, most commonly involving benzylpenicillin and ceftriaxone. Documentation of reasons for missed doses was largely absent. Microbiological testing was requested in 36.6% of patients, but only 14.8% of antibiotic prescriptions were supported by culture and susceptibility testing. Of requested tests, 80.9% of results were unavailable at discharge, limiting clinical utility. Only 19.1% of results were available, with a low culture positivity rate (27.3%). Overall, 41.8% of patients were discharged on antibiotics, predominantly from the WHO “Access” group (78%), though 22% were “Watch” antibiotics, and none from the “Reserve” group. Shorter hospital stay was significantly associated with discharge antibiotic prescribing (p = 0.0079; χ² = 78.577, p < 0.001). Conclusions: Significant AMS gaps exist, including frequent missed doses, limited diagnostic support, and high discharge antibiotic use. Strengthening medication administration systems, improving laboratory capacity and turnaround times, and optimizing discharge prescribing are critical for enhancing pediatric AMS and reducing AMR. Full article

Bardet–Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy associated with hyperphagic obesity and kidney disease. Evidence on setmelanotide after pediatric kidney transplantation is limited. We evaluated two children with BBS treated with setmelanotide after kidney transplantation, collecting anthropometric, hunger, metabolic, graft-function, cyclosporine and genetic data. Patient 1, a 17-year-old boy with a homozygous pathogenic SDCCAG8 exon deletion, improved over 12 months: weight 55.6 to 48.0 kg, BMI 26.6 to 23.0 kg/m², BMI-for-age z-score +1.60 to +0.43, maximal-hunger score 8/10 to 5/10, and HbA1c 6.5% to 5.1%. Patient 2, an 8-year-old girl with a homozygous likely pathogenic BBS5 splice-site variant and a heterozygous PCSK1 N221D variant, showed reduced hunger and an initial z-score fall from +6.10 to +5.69 by month 2.5, meeting the 0.2-point threshold for clinically meaningful change; this was not sustained, and BMI rose from 38.0 to 42.7 kg/m² by eight months despite a dose of 3 mg/day. Graft function and cyclosporine trough concentrations remained stable, and skin hyperpigmentation was the only treatment-related adverse effect. In these two patients, setmelanotide was not associated with graft deterioration or altered cyclosporine trough concentrations, although two cases cannot establish safety. The divergent trajectories highlight interindividual variability; the role of PCSK1 N221D remains uncertain, and these observations are hypothesis-generating. Full article

The home and preschool settings serve as important contexts for children’s early language and literacy development. There is limited research on parent–preschooler shared reading and children’s comprehension of information texts that vary in their format, structure, or mode of presentation. Comparing different types of information texts can help identify which features are associated with particular forms of parental scaffolding and children’s understanding, be used to guide parents, and perhaps find ways to promote children’s comprehension of these important text types. As such, this exploratory quantitative study examined shared reading of non-rhyming, rhyming, and magazine information texts and children’s listening comprehension, taking into consideration parental education, children’s age and gender, frequency of reading information texts at home, and total parents’ words in the interaction. The participants were 63 children (28 boys and 35 girls) and one of their parents (55 mothers and 8 fathers). On average, the children were 5 years, 11 months old (SD = 10.18 months). Data were collected in January–February of 2021 during the COVID-19 lockdowns. Parent–child dyads participated in three recorded online meetings, sharing two texts during each meeting and six texts in total: two non-rhyming information texts, two rhyming information texts, and two information magazine texts. Following each text, children answered two literal and two inferential comprehension questions. Negative binomial regression with generalized estimating equations revealed that overall, parents tended to ask more open questions and included significantly more elaborations and references to illustrations when reading the non-rhyming information texts. Children answered significantly more literal than inferential questions for both the non-rhyming and magazine texts compared with the rhyming texts. Various parent and child characteristics predicted parent talk and children’s comprehension. Results highlight how adult, child, and text characteristics can relate to the shared-reading discourse and children’s understanding. Future studies should be conducted to replicate and extend these findings. Full article

Background and Clinical Significance: Diabetic ketoacidosis (DKA) is a common presentation of new-onset type 1 diabetes mellitus in children; however, severe DKA complicated by acute pancreatitis, dialysis-requiring acute kidney injury (AKI), severe hypertension, and neurological involvement is uncommon. Early recognition of these complications is essential because they may substantially increase morbidity and complicate standard DKA management; Case Presentation: An 11-year-old Saudi girl with morbid obesity (BMI 43 kg/m²), previously in good health, was brought to the emergency department after being found semi-conscious. She had experienced intermittent abdominal pain for five weeks and vomiting for four days. On presentation, she was critically ill, dehydrated, and confused (Glasgow Coma Scale 11/15) and exhibited Kussmaul breathing and abdominal tenderness. Laboratory investigations confirmed severe new-onset DKA, with a blood glucose level of 684 mg/dL, pH < 7.0, HbA1c 12.2% and an anion gap > 37 mEq/L. Despite standard DKA management, metabolic acidosis persisted and renal function progressively deteriorated, accompanied by oliguria and severe hypertension reaching 200 mmHg. By day 4, the patient developed anuria and marked creatinine elevation to 560 µmol/L. Brain magnetic resonance imaging demonstrated cerebral microhemorrhages in the setting of multifactorial encephalopathy. Continuous kidney replacement therapy was initiated for KDIGO stage 3 AKI with refractory metabolic acidosis. Autoimmune testing supported the diagnosis of type 1 diabetes mellitus, while renal biopsy demonstrated acute tubular injury; Conclusions: This case highlights a rare, severe multisystem presentation of pediatric DKA. Close monitoring for renal, neurological, pancreatic, and hypertensive complications is crucial, particularly when the clinical course does not improve as expected with standard therapy. Full article

Background: Gastrointestinal (GI) involvement is increasingly recognised in paediatric SARS-CoV-2 infection and multisystem inflammatory syndrome in children (MIS-C), but severe GI bleeding remains rare. Its pathogenesis in this setting is multifactorial: direct viral injury, hyperinflammatory microvascular damage, treatment-related mucosal injury, and coagulopathy may all contribute, and the relative role of each is often difficult to disentangle. Case Presentation: A previously healthy 12-year-old boy underwent appendectomy for perforated appendicitis with peritonitis. On postoperative Day 1, he developed high fever and was found to be SARS-CoV-2 PCR-positive; SARS-CoV-2 IgM and IgG were also positive. He met the positive clinical elements of the CDC 2023 case definition for MIS-C (persistent fever, multisystem involvement—gastrointestinal, hepatic, haematological, and markedly elevated inflammatory markers), although perforated appendicitis with peritonitis is a sufficient alternative explanation and the diagnosis cannot be regarded as secure (see Discussion). Treatment included broad-spectrum antibiotics (meropenem, amikacin, metronidazole), methylprednisolone 2 mg/kg/day, and intravenous immunoglobulin (IVIG) 2 g/kg. On Day 4 in the paediatric intensive care unit (PICU), the patient developed sudden haematemesis with fresh blood through the nasogastric tube and haemodynamic collapse. Coagulation studies revealed prolonged INR (1.6) and reduced prothrombin activity (42%). The patient was stabilised with packed red blood cells, fresh frozen plasma, and intravenous vitamin K. Fibrogastroscopy demonstrated diffuse mucosal bleeding without ulcers or anatomical defects; histology showed mucosal hyperaemia, mixed basal inflammation with intraepithelial lymphocytes, and small erosions. Melena persisted for several days. The child recovered fully and was discharged after 20 days with substantially improved but not fully normalised laboratory values (residual mild anaemia, Hb 110 g/L, and elevated CRP 32.7 mg/L and D-dimer 5.88 mg/L). Conclusions: Severe upper GI bleeding is a rare but life-threatening event in children with severe SARS-CoV-2 infection and MIS-C. In our case, several mechanisms may have acted in combination, although none could be confirmed individually: possible direct viral enterocyte injury via ACE-2 receptors, hyperinflammatory microangiopathy, high-dose corticosteroid-related mucosal injury, possible broad-spectrum antibiotic-associated vitamin K deficiency, and postoperative critical-illness stress. Their relative contributions cannot be determined from a single retrospective case. Bleeding occurred despite continuous PPI prophylaxis, suggesting that PPI cover alone is insufficient when multiple risk factors coexist; the clinical implication is that risk-factor-based (rather than universal) PPI prophylaxis, together with monitoring of vitamin K-dependent coagulation, should be considered in critically ill children receiving high-dose corticosteroids and prolonged broad-spectrum antibiotics. Full article