The purpose of this study is to evaluate the diagnostic and therapeutic yield of a specialized clinic for children with suspicion of a hereditary thoracic aortic disease (HTAD), including Marfan Syndrome (MFS), and to investigate the diagnostic value of presenting symptoms and findings during evaluation. This retrospective observational study included all patients younger than 18 years old at initial referral between 1998 and 2018. Clinical data, medical treatment, surgical interventions, and clinical events during surveillance were collected until December 2023. A case-control comparison between patients with and without an eventual diagnosis of HTAD was performed using logistic regression analysis to investigate the diagnostic value of collected variables. A total of 355 children were referred and evaluated at the clinic, resulting in 89 new diagnoses, with a diagnostic yield of 21% HTAD, including 59 cases of MFS. Younger age at referral, ectopia lentis, aortic dilatation, and facial features were among the strongest predictors of MFS and other HTAD, while pectus excavatum and arm span-height ratio had no predictive value at childhood age. Of patients with MFS, 65% received antihypertensive medication, and 8% of patients with HTAD underwent prophylactic aortic surgery, in some cases even during childhood. Conclusion: Evaluation of children for HTAD in our specialized Marfan clinic resulted in a high diagnostic yield and subsequent therapeutic implications. Indeed, early recognition of symptoms and signs and referral to such a specialized clinic may lead to early diagnosis, surveillance, and timely treatment, thereby possibly limiting acute aortic events and even mortality.

During and after childhood cancer treatment, impairments in physical fitness are observed, such as reduced muscle strength, fatigue, and changes in body functions. These aspects may result in limitations and restrictions in performance of daily activities. To analyze the relationship between upper and lower limb muscle strength, functional mobility, and performance in activities daily living in children, adolescents, and young adults with cancer, compared to their healthy peers. The cross-sectional observational study involves 45 participants, 15 in the cancer group and 30 in the control group. Personal, environmental, and health data were collected. Participants from both groups were evaluated for upper and lower limb muscle strength, functional mobility (timed up and go test-TUG and five times sit-to-Stand test-5xSTS), and performance in activities of daily living (Pediatric Evaluation Of Disability Inventory-Computer Adaptive Test-PEDI-CAT). The participants were 30 females and 15 males (13.67 ± 5.78 years: cancer group; 13.07 ± 5.11 years: control group). Acute lymphoblastic leukemia (n = 7), chronic myeloid leukemia (n = 2) and Hodgkin's lymphoma (n=2) were the main diagnoses in the cancer group. No significant differences were found in upper and lower limb muscle strength between groups (p > 0.05). However, significant differences were observed in functional mobility (TUG and 5xSTS) and performance (PEDI-CAT-mobility) in activities of daily living, with the cancer group showing worse performance compared to the control group (p ≤ 0.001). Conclusion: Children and adolescents with cancer showed lower functional mobility and performance in activities of daily living compared to the control group. These difficulties were not associated with muscle weakness or level of physical activity. Therefore, it is recommended that physiotherapeutic treatment and follow-up include activities focused on mobility and functional independence.

To evaluate pulmonary hemodynamics in patients who had been followed up for bronchopulmonary dysplasia (BPD)-associated pulmonary hypertension (PH) in the mid-term by right heart catheterization (RHC). A retrospective study was conducted among 56 patients who were born at a gestational age < 28 weeks during 2018-2020, and the consecutive patients complicated by BPD and ultrasound-defined PH (n = 10, 18%), of whom 7 patients were treated with sildenafil, were examined by RHC in the mid-term follow-up (median age: 25 months [IQR: 19-32]). Ultrasound study at RHC showed improvement in PH as represented by left ventricular end-systolic eccentricity index (median [IQR], 1.05 [IQR: 1.03-1.06] vs. 1.18 [IQR: 1.15-1.33]), pulmonary artery acceleration time (PAAT) (mean ± SD, 97.3 ± 18.2 vs. 55.2 ± 10.1) and a ratio of PAAT to right ventricular ejection time (0.35 ± 0.05 vs. 0.25 ± 0.04) compared with those at 40 weeks of postmenstrual age (PMA) (p < 0.05, respectively). RHC (mean pulmonary artery [PA] pressure: 21 [19-22] mmHg; pulmonary vascular resistance index [PVRi]: 2.63 [1.95-2.94] Wood Units·m) revealed that 5 infants (50%) had mild PH (21-24 mmHg) and reduced peripheral PAs by pulmonary wedge angiography. The presence of emphysema on chest CT at 40 weeks of PMA and moderate/marked reduction of contrast filling in peripheral PAs on angiography were correlated with increased PVRi (p < 0.05, respectively).

Infant colic is defined as a recurrent and prolonged period of fussing, crying and/or irritability that cannot be prevented or resolved by caregivers. The aim of this study is to evaluate the efficacy of a synbiotic (Bactecal D Liquid) in infants consulting a primary health care professional for inconsolable crying. A randomized trial was conducted in 68 infants diagnosed by the consulted primary health care professional as "probably suffering from infant colic". Patients were randomized into two groups and given the synbiotic once (group 1) or twice (group 2) a day for 28 days. Quality of life (QoL) of the caregivers, evaluated with a Likert scale, was the primary outcome. Secondary outcomes included the total number of crying episodes, total crying time, gassiness and "balling of the fists". The median (Q1;Q3) QoL scores were significantly (p < 0.001) higher on day 28 than at baseline: 6 (5;7) vs 2 (1;3). At baseline, there was no significant difference (p = 0.527) in QoL between both groups. The improvement in QoL was already significant after one week of intervention for both groups. The median number of crying episodes, overall crying time, gassiness and "balling of fists" were significantly lower on day 28 compared to baseline (p < 0.001).

Distal forearm fractures are the most common pediatric fractures. Currently, the diagnostic reference standard is X-ray. However, there is growing evidence that point-of-care ultrasound can be used for the diagnosis of distal forearm fractures in children and adolescents with good accuracy. The objective of this scoping review was to explore the current evidence for the use of ultrasound for the diagnosis of pediatric distal forearm fractures and to identify the gaps in the literature for further research. We performed a scoping review searching on the following databases PubMed, MEDLINE, SCOPUS, EMBASE, and ClinicalTrials.gov. The main review question was "What is the evidence for using ultrasound to diagnose distal forearm fractures in patients < 18 years old?" All types of studies, including randomized clinical trials and prospective and retrospective observational studies (case-control, cohort, and cross-sectional studies, case series) were included. Twenty-three articles were included in the scoping review; only two articles were from a single randomized controlled trial. Our scoping review found high sensitivity (91.5-99.5%) and specificity (85-99.5%) of POCUS for distal forearm fracture diagnosis. All studies used a linear ultrasound probe, with an upper range frequency ranging from 5 to 15 MHz and typically used a six-view scanning protocol. The duration of the procedure was only a few minutes, and pain associated with ultrasound was usually mild. When compared with X-ray, an ultrasound first approach shortened the length of stay by an average of 15 min per participant. Conclusions: The evidence suggests that ultrasound can be used for the diagnosis of clinically nondeformed distal forearm fractures in children and adolescents by a variety of practitioners. However, the current gaps in the literature include its translation into clinical practice and its cost-effectiveness.

Premature children with bronchopulmonary dysplasia (BPD) encounter several health issues potentially affecting their health-related quality of life (HRQL). We aimed to determine agreement between children with BPD and their parent's HRQL assessments. Using Patient-Reported Outcomes Measurement Information System (PROMIS) assessment tools, we evaluated agreement and potential bias between parent proxy and child self-reports of the PROMIS-Scale-Global Health-7, the Psychological Stress Experiences Short Form (PSE), and the PROMIS-Profile-25. Fifty-eight child-parent dyads from the Indoor Air Quality and Respiratory Morbidity in Children with BPD study were included. Intraclass correlations (ICC) between child self-report and parent proxy report showed moderate agreement for the Relationships domain (0.44 [95% confidence interval (CI) 0.38-0.53]) and poor agreement for the rest of the Profile-25 dimensions (Mobility, Anxiety, Depression, Pain, and Fatigue; range: 0.05-0.29), Global Health-7 (0.32 [95% CI 0.24-0.48), and PSE (0.34 [95% CI 0.27-0.49]) T-scores. Parents systematically overestimated negative HRQL domains (Pain, Anxiety, or Depression) and underestimated positive domains (Mobility or Relationship). As children age, the child-parent agreement worsens.

Current professional guidelines enable diagnosing pediatric Celiac Disease (CeD) without a biopsy, when tissue transglutaminase (TTG) IgA antibodies are >  × 10 the upper limit of normal (ULN) and anti-endomysial antibodies (EMA) are positive in a second sample. We compared baseline characteristics and serology normalization in children diagnosed with or without biopsies. A retrospective study of pediatric patients diagnosed with CeD during 2020: group A, no biopsy and group B, biopsy-based diagnosis. Baseline characteristics included demographics, anthropometrics, symptoms, family history, and celiac serology. Follow-up at 6-month intervals, up to 18 months, included dietary compliance, symptoms, and serology. Of 145 children diagnosed with CeD, 42 (29%) and 103 (71%) were from group A and B respectively. Mean age was 7.8 years (range 2.4-17.9 y), 91 (62.8%) females. Baseline symptoms or signs were present in 93 (64.1%) children, without significant difference between the groups. Baseline TTG levels were >  × 10 ULN in all patients in group A and 71 (68.9%) in group B. Among these patients, the rate of TTG decline during follow-up did not differ at any time point between patients diagnosed with and without biopsy, and between patients with and without symptoms. At the last follow-up visit, 24 (57%) children in group A and 46 (65%) in group B had TTG <  × 3 ULN without significant difference between the groups.

We aimed to analyze the effect of video laryngoscopy on intubation success, time to intubation, and adverse events in infants and neonates. A systematic review and meta-analysis was performed, for which a neonates (age less than 29 days) and infants (age less than 365 days) needing to be intubated were included. The main outcomes were first attempt success rate in the intubation, time to intubation, and adverse events. Evidence certainty was assessed according to GRADE. We included 13 studies. Seven studies with 897 patients focused on neonates, and the first attempt success rate was higher in the video laryngoscopy group (RR 1.18, CI: 1.03-1.36). Six studies included 1039 infants, and the success rate was higher in the video laryngoscopy group (RR 1.06, CI: 1.00-1.20). Time to intubation was assessed in 11 trials, and there was no difference between the groups (mean difference 1.2 s, CI - 2.2 s to + 4.6 s). Odds of desaturation (OR 0.62, CI 0.42-0.93) and nasal/oral trauma (OR 0.24, CI 0.07-0.85) were lower in the video laryngoscopy group. Evidence certainties varied between moderate and low.

Preterm infants are at an increased risk of developing feeding intolerance (FI) due to the functional immaturity of their gastrointestinal tract. Recent studies and meta-analyses have shown a significant role of bovine lactoferrin (LF) in the management of feeding intolerance and sepsis. This study aimed to assess the effects of oral bovine LF supplementation on FI in preterm infants (26-34 weeks gestational age) and its effect on intestinal permeability measured by serum zonulin concentrations.

Machine learning (ML) based on remote video has shown ideal diagnostic value in autism spectrum disorder (ASD). Here, we conducted a meta-analysis of the diagnostic value of home video-based ML in ASD. Relevant articles were systematically searched in PubMed, Cochrane, Embase, and Web of Science from inception to September 2023 with no language restriction, and the literature search was updated in September 2024. The overall risk of bias and suitability of the ML prediction models in the included studies were assessed using PROBAST. Nineteen articles involving 89 prediction models and 9959 subjects were included. The mean video duration was 5.63 ± 1.23 min, and the mean number of behavioral features during initial modeling was 23.53. Among the 19 included studies, 13 models had been trained. Seven of the 13 models were not cross-validated (c-index = 0.92, 95% CI 0.88-0.96), while 6 of the 13 models were tenfold cross-validated (c-index = 0.95, 95% CI 0.94-0.97). There were 8 validation cohorts (c-index = 0.83, 95% CI 0.77-0.89). The pooled sensitivity and specificity were 0.87 (95% CI 0.77-0.93) and 0.79 (95% CI 0.76-0.81) in the training cohort, 0.90 (95% CI 0.85-0.94) and 0.87 (95% CI 0.72-0.94) in the cross-validation, and 0.81 (95% CI 0.74-0.86) and 0.72 (95% CI 0.68-0.75) in the validation cohort, respectively. These results indicated that this model is a highly sensitive and user-friendly tool for early ASD diagnosis.

Our objective was to obtain information about diaphragm muscle mass, strength, and quality using conventional US and US-based imaging method shear wave elastography (SWE) in pediatric patients with primary malnutrition. We also sought to evaluate the usability of SWE in the diagnosis and follow-up of sarcopenia. We evaluated the diaphragm thickness and stiffness of patients diagnosed with primary malnutrition in the pediatrics and pediatric gastroenterology outpatient clinic using US and US-based SWE. The data were compared with those of an age- and gender-matched healthy control group. The study included 115 volunteers. Of the cases included, 53 were healthy controls and 62 (54%) were patients with primary malnutrition. There was no significant difference between the groups in terms of age and gender (p = 0.891 and p = 0.923, respectively). The malnourished patient group had significantly lower diaphragm thickness and stiffness. There is a significant positive correlation between anthropometric measurement Z scores and diaphragm thickness and stiffness.

We aim to evaluate the Osteopontin (OPN) levels in patients with Celiac disease (CD) at diagnosis and exploring its association with mucosal atrophy and osteoporosis. The study included celiac patients at diagnosis and age and sex matched healthy controls. Subjects with additional intestinal pathology, other known inflammatory and autoimmune disease accompanying CD, and patients with signs of infection were excluded. Demographics, presenting symptoms, concurrent disorders, physical examination findings, laboratory results, celiac serology and histopathological assessment were recorded. A total of 36 celiac patients (23 girls, 13 boys, mean age 9.4 ± 4.5 years) and 36 healthy controls (22 girls, 14 boys, mean age 8.7 ± 4 years) were included. The median OPN level was significantly higher in patients [10.41 (9.34-13.47) ng/ml vs. 9.42 (7.56-10.19) ng/ml, p < 0.001]. The median OPN levels of patients with osteoporosis was significantly higher than those with normal BMD values [20.7 (10.12-21.22) vs. 9.87 (9.16-10.75), respectively, p = 0.006)]. A serum OPN level of 10.74 ng/ml was found to be a cut-off value for the patient with osteoporosis with 66.7% sensitivity, 66.7% specificity, 50% positive predictive value, and 80% negative predictive value. Patients' OPN levels were 9.53 (9.3-10.42) ng/ml in Marsh type 3a, 9.78 (8.62-15.28) ng/ml in Marsh type 3b and 11.51 (9.88-19.75) ng/ml in Marsh type 3c. Marsh-Oberhuber type 3c was found to have higher median OPN levels than type 3a and type 3b (p = 0.027). When patients were stratified based on their manifestations of either intestinal or extraintestinal symptoms, along with the presence of anemia, tissue TG IgA levels exceeding ten times the upper normal limit, and a deficiency in vitamin D, the median OPN levels exhibited no significant differences across these groups.

Octreotide is recommended as a second-line treatment for patients with congenital hyperinsulinism (CHI), especially for those who do not respond to diazoxide or surgical intervention. Studies on the adverse effects of octreotide in large cohorts are still scarce. We evaluated the safety of octreotide in CHI patients by reviewing cases from the two largest centres in China that specialize in the management of this condition. Our study analysed adverse events in 122 CHI patients on octreotide, with a 93% success rate for the therapy alone. The mean maximum dose of octreotide was 13.1 ± 6.5 µg/kg/day, with no difference in required doses between diffuse and focal lesion patients. Common side effects were hepatobiliary injuries (20.5%), gastrointestinal symptoms (31.1%), and transient hyperglycaemia (49.2%), with one case of necrotizing enterocolitis. Adverse event rates increased in patients treated with intermediate octreotide dose to those treated with higher doses, rising from 58% at doses of 5-10 µg/kg/day to 100% at doses exceeding 20 µg/kg/day. Patients experiencing adverse events received significantly higher doses.

A number of clinical studies have been conducted comparing the diagnostic accuracy of non-invasive and invasive point-of-care diagnostic tests for anemia, using reference standards such as hematology autoanalyzers.

Metabolic dysfunction-associated steatotic liver disease (MASLD) is now the most prevalent chronic liver disease in children in industrialized countries mainly due to the rise in obesity and overweight. Besides risk of progressive liver damage, MASLD also carries an increased risk of extra-hepatic morbidity, most importantly type 2 diabetes mellitus and cardiovascular disease. Important challenges remain in the prevention, detection, and treatment of this prevalent disorder. This review outlines the epidemiology and risk factors of MASLD and provides an approach to screening, diagnosis, and treatment based on current best available evidence and expert opinion. What is known: • NAFLD/MASLD is a common disorder in children strongly related to obesity/overweight and insulin resistance. • This silent disorder is underdiagnosed due to lack of awareness and lack of simple diagnostic criteria. What is new: • New diagnostic criteria have transformed NAFLD/MASLD from a diagnosis of exclusion to a positive diagnosis with simple criteria. • Effective treatments are emerging for adults and will likely become available for children. • Identifying children with NAFLD/MASLD has become even more important due to this new treatment perspective.

Understanding the cardiac risks of antipsychotic use is crucial for clinicians managing psychiatric conditions in children and adolescents. However, the effects on the QT interval in pediatric populations have been poorly investigated. We performed a systematic review to provide clinicians an updated source on the effects of antipsychotic medications on QTc and guide drug's choice. A literature search on the PubMed and Scopus databases was conducted from April 22, 1989, to May 28, 2023, for all studies investigating the effects of antipsychotic medications on the QTc interval in patients aged 0-18 years. A total of 10 articles including 523 patients and 7 different antipsychotic drugs met our search criteria. Among the included articles were three randomized clinical trials, five controlled trials without randomization or prospective comparative cohort trials, and two retrospective cohort studies. Clinical data emerging from these studies were classified according to the Oxford Centre for Evidence-Based Medicine. Risperidone and aripiprazole showed minimal to no significant QTc prolongation, whereas quetiapine, olanzapine, and ziprasidone showed variable effects on QTc. Haloperidol did not demonstrate significant QTc prolongation. In a prospective comparative cohort trial, pimozide exhibited significant QTc prolongation in a cohort with Tourette syndrome.

The aim of this study is to compare long-term health outcomes between IVF-conceived children and non-IVF-conceived children in Japan, in the context of strong recommendation for single embryo transfer. Using data from a nationwide birth cohort linked with perinatal database, this study analyzed 2140 children born in Japan in May 2010. It compared child health and development outcomes up to 9 years of age between IVF-conceived and non-IVF-conceived children (binary exposure). A Poisson regression with robust variance to estimate the risk ratios for the association between IVF and various long-term child health and developmental outcomes. After adjusting for confounding factors, no significant differences were observed between IVF-conceived and naturally conceived children for most outcomes, including hospitalization, obesity, and developmental milestones. IVF-conceived children showed a slightly lower risk of attention problems at 8 years (adjusted Risk Ratio [aRR]: 0.73, 95% CI: 0.53-1.00). In subgroup analyses, IVF-conceived term children and singletons demonstrated reduced risk of cognitive delays at 5.5 years (aRR: 0.31, 95% CI: 0.10-0.96 and aRR: 0.37, 95% CI: 0.14-0.98, respectively).Conclusion: In this Japanese cohort, IVF conception was not associated with adverse long-term health or developmental outcomes. These findings provide reassurance about the safety of IVF, particularly in the context of single embryo transfer policies. Further research is needed to explore specific IVF protocols and subgroups.

The aim of this study was to evaluate the cutaneous manifestations of immunoglobulin A vasculitis (IgAV) in terms of skin lesion type, distribution and persistence and to investigate the relationship between cutaneous manifestations and system involvement and treatment needs. This retrospective observational study was conducted with 489 IgAV patients who were followed-up for at least 6 months between 2013 and 2024. Demographic characteristics, detailed cutaneous manifestations, clinical findings and treatments were retrieved from electronic medical records. IgAV patients were divided into subgroups according to the presence or absence of vesicles/bullae, necrosis/ulcer, rash spreading above the buttocks and persistence. The groups were analyzed statistically for demographic findings, systemic involvement and treatments. Of 489 patients, 36 (7.4%) had vesicles/bullae and 22 (4.5%) had necrosis/ulcers. 345 (70.6%) patients had cutaneous manifestations limited to the lower extremities and buttocks, 144 (29.4%) had cutaneous manifestations spreading from the lower extremities to the trunk, upper extremities or face. 36 (7.4%) patients had persistent rash for more than 1 month. Patients with necrosis/ulcer had more genital tract involvement (p = 0.04). Patients with rash spreading above the buttocks had more gastrointestinal tract and genital tract involvement (p = 0.014, p = 0.003). Patients with persistent rash had more renal involvement (p = 0.05). Patients with vesicles/bullae, necrosis/ulcer, rash spreading above the buttocks and persistent rash required more steroid treatment (p = 0.003, p = 0.001, p < 0.001, p = 0.03).

Newborn screening for cystic fibrosis (CF-NBS) using an IRT-DNA algorithm with a 12 CFTR-variant panel and an IRT/IRT failsafe was officially implemented in the French-speaking Community of Belgium in January 2020. This screening protocol was evaluated after 4 years according to the criteria defined by the European Cystic Fibrosis Society's working group on neonatal screening. Immunoreactive trypsinogen concentration (IRT) was measured on dried blood spots collected between the second and the fourth day of life. CFTR variants genotyping was initiated when IRT ≥ 99th percentile (P99). If at least 1 variant was identified, the child was referred to a CF center for a sweat test (ST). If IRT ≥ 99.9th percentile with no variant identified, a failsafe was provided with IRT repeated on day 21 and subsequent ST in case of persistent IRT > P99. Extensive Gene Analysis was initiated if sweat chloride level was ≥ 30 mmol/L. Over a period of 4 years, 212.979 newborns were screened. Forty-two were diagnosed with CF: 34 by CF-NBS, 3 following a meconium ileus, 3 by family history and 2 missed cases. Additionally, 112 healthy carriers and 14 CFSPID were identified. The median age at the first consultation was 23 days. The sensitivity of our CF-NBS is 95% (target ≥ 95%), the positive predictive value 18% (target ≥ 30%) and CF/CFSPID ratio 2.8.