Hasil untuk "Pediatrics"

J. Perlman, J. Wyllie, J. Kattwinkel et al.

B. Wilkoff, C. Love, C. Byrd et al.

Sarah E. Cusick, M. Georgieff

Nafis M. Arefin, Bryan C. Good

Embolic stroke during cardiopulmonary bypass (CPB) is strongly influenced by cannula induced flow disturbances that govern emboli transport and aortic wall loading. This study quantifies how aortic cannula orientation affects embolic distribution and atherosclerotic plaque disruption risk across patient specific, age-dependent aortic anatomies under clinical CPB conditions. A validated computational fluid dynamics and Lagrangian particle tracking (CFD-LPT) framework was applied to four patient-specific aortic models representing pediatric, adolescent, adult, and geriatric anatomies. Two clinically relevant cannula orientations: perpendicular (90 deg) and angled (30 deg), were evaluated under varying blood viscosities (1.5 to 3.5 cP) and embolus sizes (0.5 to 2.5 mm). Aortic branch exit percentage, wall pressure, and wall shear stress (WSS) were quantified. The 30 deg angled cannula reduced embolic transport into the aortic branches by 18 to 50 percent compared with perpendicular cannulation, with the largest reduction observed in the geriatric model. Perpendicular cannulation produced concentrated jet impingement, resulting in significantly elevated posterior wall pressure (24 percent) and up to an 8 fold increase in local WSS. The pediatric anatomy exhibited the highest sensitivity, where decreasing viscosity and increasing embolus size increased branch exit by 8.4 percent and 25 to 44 percent, respectively, consistent with higher particle Stokes numbers and inertial decoupling from the core flow. Angled cannulation redistributes jet momentum along the aortic curvature, weakens jet impingement, reduces localized pressure and wall stress, and limits embolic delivery towards the cerebral circulation. These findings provide mechanistic, patient-specific evidence supporting angled cannula orientation to reduce CPB complications.

Laura Navarro, Laura Navarro, Laura Navarro et al.

Brain damage (BD) caused by stroke, traumatic brain injury (TBI), or neurodegenerative conditions often results in persistent cognitive, motor, and emotional impairments. Music-based interventions (MI) have been explored as adjunctive rehabilitation strategies; however, the evidence remains fragmented. This systematic review and meta-analysis synthesize available research on the effects of MI on functional recovery following BD, due to acquired brain injury (ABI), including both TBI and non-TBI. From a total of 868 publications screened in PubMed, Embase, Scopus, Cochrane Library, Web of Science, and ClinicalTrials.gov, 90 were included, of which 41 met the criteria for quantitative evaluation and meta-analysis, to assess the state-of-the-art of research on music and BD in the fields of neuropsychology and cognitive sciences. The reviewed studies span a range of methodologies, including randomized controlled trials and qualitative research, and incorporate diverse MI strategies, such as active music-making, structured listening, and improvisational techniques. The findings indicate that music supports recovery across motor, cognitive, and, albeit to a lesser extent, communicative and psychosocial domains. The findings suggest beneficial effects of MI, particularly in gait function (z = 3.46, P < 0.01), upper extremity function (z = 6.11, P < 0.01; UEF), communication (z = 3.21, P < 0.01), cognitive rehabilitation (z = 3.29, P < 0.01), and emotional, behavioral, and social outcomes (z = 2.35, P = 0.02); notably, these effects were often supported by consistent statistical significance across multiple subgroup analyses (e.g., gait, UEF). This study highlights the therapeutic potential of music in neurorehabilitation and supports its integration into multidisciplinary treatment programs. Despite these promising findings, methodological heterogeneity, small sample sizes, and short intervention durations limit the generalizability of results. The evidence suggests that music may modulate key neurobiological pathways in BD, supporting its integration into evidence-based neurorehabilitation programs.

Isabelle Bloch, Enzo Bonnot, Pietro Gori et al.

This article deals with the description and recognition of fiber bundles, in particular nerves, in medical images, based on the anatomical description of the fiber trajectories. To this end, we propose a logical formalization of this anatomical knowledge. The intrinsically imprecise description of nerves, as found in anatomical textbooks, leads us to propose fuzzy semantics combined with first-order logic. We define a language representing spatial entities, relations between these entities and quantifiers. A formula in this language is then a formalization of the natural language description. The semantics are given by fuzzy representations in a concrete domain and satisfaction degrees of relations. Based on this formalization, a spatial reasoning algorithm is proposed for segmentation and recognition of nerves from anatomical and diffusion magnetic resonance images, which is illustrated on pelvic nerves in pediatric imaging, enabling surgeons to plan surgery.

Brianna M White, Rameshwari Prasad, Nariman Ammar et al.

This study presents a narrative review of the use of digital health technologies (DHTs) and artificial intelligence to screen and mitigate risks and mental health consequences associated with ACEs among children and youth. Several databases were searched for studies published from August 2017 to August 2022. Selected studies (1) explored the relationship between digital health interventions and mitigation of negative health outcomes associated with mental health in childhood and adolescence and (2) examined prevention of ACE occurrence associated with mental illness in childhood and adolescence. A total of 18 search papers were selected, according to our inclusion and exclusion criteria, to evaluate and identify means by which existing digital solutions may be useful in mitigating the mental health consequences associated with the occurrence of ACEs in childhood and adolescence and preventing ACE occurrence due to mental health consequences. We also highlighted a few knowledge gaps or barriers to DHT implementation and usability. Findings from the search suggest that the incorporation of DHTs, if implemented successfully, has the potential to improve the quality of related care provisions for the management of mental health consequences of adverse or traumatic events in childhood, including posttraumatic stress disorder, suicidal behavior or ideation, anxiety or depression, and attention-deficit/hyperactivity disorder. The use of DHTs, machine learning tools, natural learning processing, and artificial intelligence can positively help in mitigating ACEs and associated risk factors. Under proper legal regulations, security, privacy, and confidentiality assurances, digital technologies could also assist in promoting positive childhood experiences in children and young adults, bolstering resilience, and providing reliable public health resources to serve populations in need.

Lorenzo D’Antonio, Valerio Balassone, Federico Alghisi et al.

<b>Background</b>: Pancreatic involvement in inflammatory bowel diseases (IBD) is relatively common and includes a range of conditions, such as acute pancreatitis (AP), chronic pancreatitis (CP), autoimmune pancreatitis (AIP), and pancreatic exocrine insufficiency (PEI). However, pancreatitis as a precursor to IBD is not well understood and is rarely reported. <b>Objectives</b>: This study investigates the occurrence, etiology, severity, and recurrence patterns of acute pancreatitis (AP) prior to IBD diagnosis in pediatric patients, with the aim of improving early recognition and diagnostic approaches. <b>Methods</b>: This retrospective observational study was conducted between January 2019 and December 2023 at a tertiary pediatric center, including patients who developed pancreatitis prior to an IBD diagnosis. Demographic information, clinical presentation, laboratory findings, imaging results, fecal calprotectin levels, radiological tests, blood tests, and endoscopic findings were collected. <b>Results</b>: Among 312 pediatric IBD patients (99 with Crohn’s disease (CD), 162 with ulcerative colitis (UC), 7 unclassified, and 44 with very early-onset IBD [VEO-IBD]), 11 (3.5%) had pancreatitis preceding the IBD diagnosis. All the patients showed elevated fecal calprotectin levels, and endoscopy confirmed IBD (four with CD, seven with UC). The median time from the onset of pancreatitis to the IBD diagnosis was 77 weeks (range 0–366 weeks). <b>Conclusions</b>: This study supports the hypothesis that pancreatitis may precede the diagnosis of IBD in some cases, acting as an early extraintestinal manifestation, as previously reported in adults. IBD should be considered in the differential diagnosis of pediatric pancreatitis, particularly in idiopathic cases. Fecal calprotectin testing should be included in the diagnostic workup for pediatric pancreatitis at both initial presentation and during follow-up. Further research is needed to better understand the mechanisms underlying this extraintestinal manifestation.

Antonio Musolino, Marco Roversi, Mariateresa Romaniello et al.

Introduction: Pneumococcal vaccination has significantly decreased the burden of invasive pneumococcal disease in the general population, however studies on effectiveness in Down syndrome (DS) are heterogeneous. In this cross-sectional study we evaluated the prevalence of adequate immune response in children with DS after pneumococcal vaccination and we searched for possible clinical predictors associated with it, in order to provide data to optimize vaccination strategies in this high-risk group. Methods: Data of children with DS referred to the DS outpatient Clinic of Bambino Gesù Children's Hospital, Rome, Italy, between September 2021 and March 2022 were reviewed. Clinical and laboratory predictors of immunological response to PCV vaccine, defined as an anti-pneumococcal IgG titer threshold above 0.35 μg/mL were compared and evaluated with bivariate analyses and logistic regression. Results: In this cohort of 406 patients the mean age was 8.4 years and 56.2 % of individuals were male. Most of them had congenital cardiopathy (57.8 %) and recurrent respiratory infections (57.4 %). An anti-pneumococcal Ig titer ≥0.35 μg/mL was found in 50.5 % of patients. Those with Ig < 0.35 μg/mL were significantly younger (p < 0.001) and less likely to have autoimmune disorders or hypothyroidism. Logistic regression showed that a positive history of previous surgery increased the likelihood of Ig ≥ 0.35 μg/mL (OR 2.25, p = 0.001), as well as hypothyroidism (OR 3.14, p = 0.016) and celiac disease (OR 3.70, p = 0.030). Additionally, older age at last PCV13 dose positively correlated with higher Ig levels (p = 0.018). Conclusion: Our findings confirm a lower prevalence of adequate immune response after anti-pneumococcal vaccination in individuals with DS. Older age at last PCV13 dose was found to be correlated to higher specific IgG titers; we suggest a tailored vaccination schedule or a booster dose in individuals with DS that could improve their immune protection.

Awsam Abdulsattar Marzaali, Ali Abid Abojassim

Food products contained varying amounts of naturally occurring radioactive materials (NORM), and these differences were ascribed to such as climate, farming techniques, and background radiation levels. It is acknowledged that these radionuclides are the primary reasons why people are exposed to radiation internally. Of the radionuclides found in nature, the ones from the decay series of 238U, 232Th, and 40K are the ones that should be protected against radiation the most. The levels of natural radioactivity in snack foods consumed by primary school-age (6–12 years) children is measured with a detector for NaI(Tl) gamma-ray spectroscopy. The range values of activity per unit mass (specific activity) of 238U, 232Th, and 40K were 12.32 to 28.41, 1 to 17.4, and 375.16 to 686.8 Bq/kg, respectively. According to UNSCEAR and ICRP, the excess lifetime cancer risk and total annual effective dose rate were below acceptable levels in the majority of the samples under study.

Rachael Zehrung, Madhu Reddy, Yunan Chen

Adolescents with chronic illnesses need to learn self-management skills in preparation for the transition from pediatric to adult healthcare, which is associated with negative health outcomes for youth. However, few studies have explored how adolescents in a pre-transition stage practice self-management and collaborative management with their parents. Through interviews with 15 adolescents (aged 15-17), we found that adolescents managed mundane self-care tasks and experimented with lifestyle changes to be more independent, which sometimes conflicted with their parents' efforts to ensure their safety. Adolescents and their parents also performed shared activities that provided adolescents with the opportunity to learn and practice self-management skills. Based on our findings, we discuss considerations for technology design to facilitate transition and promote parent-adolescent collaboration in light of these tensions.

Elpiniki Maria Lygizou, Michael Reiter, Margarita Maurer-Granofszky et al.

Acute Leukemia is the most common hematologic malignancy in children and adolescents. A key methodology in the diagnostic evaluation of this malignancy is immunophenotyping based on Multiparameter Flow Cytometry (FCM). However, this approach is manual, and thus time-consuming and subjective. To alleviate this situation, we propose in this paper the FCM-Former, a machine learning, self-attention based FCM-diagnostic tool, automating the immunophenotyping assessment in Childhood Acute Leukemia. The FCM-Former is trained in a supervised manner, by directly using flow cytometric data. Our FCM-Former achieves an accuracy of 96.5% assigning lineage to each sample among 960 cases of either acute B-cell, T-cell lymphoblastic, and acute myeloid leukemia (B-ALL, T-ALL, AML). To the best of our knowledge, the FCM-Former is the first work that automates the immunophenotyping assessment with FCM data in diagnosing pediatric Acute Leukemia.

Mohamed E. M. K. Abdelaziz, Libaihe Tian, Thomas Lottner et al.

Cardiovascular diseases (CVDs) and congenital heart diseases (CHD) pose significant global health challenges. Fluoroscopy-guided endovascular interventions, though effective, are accompanied by ionizing radiation concerns, especially in pediatric cases. Magnetic resonance imaging (MRI) emerges as a radiation-free alternative, offering superior soft tissue visualization and functional insights. However, the lack of compatible instruments remains a hurdle. We present two novel catheter systems, a tendon-driven steerable catheter and an active tracking Tiger-shaped catheter, fabricated using a unique fiber drawing technique. These catheters, showcasing mechanical properties similar to commercial counterparts, have undergone rigorous in-vitro and in-vivo testing, yielding promising outcomes. This innovative approach has the potential to streamline medical device development, thus enhancing patient care in MR-guided interventions.

Rui Zhang, Ying Liu, Lili Liu et al.

Background Bacterial meningitis (BM) poses a serious threat to infant health. We assessed cranial ultrasound (CUS) changes in infants with BM as possible predictors of the neurological sequelae of BM.Methods We retrospectively assigned 132 infants diagnosed with BM from 2007 to 2021. Neuroimaging characteristics and cerebral blood flow (CBF) profiles identified using CUS were analysed and compared between the groups during the acute and postacute phases of BM.Results Overall, 102 infants with CUS and outcome data were recruited. 37/102 (36.3%) infants with neurological developmental impairments comprised the group with sequelae. Abnormal CUS findings increased the risk of sequelae during the postacute phase compared with the acute phase of BM. Prolonged white matter hyperechogenicity was an independent risk factor for sequelae. The CBF profiles of the group with sequelae showed that anterior cerebral artery resistance and pulsatility indices decreased during the acute phase, whereas the mean flow velocity of the middle cerebral artery significantly increased during the postacute phase. Changes in the CBF profiles did not significantly differ in the group without sequelae.Conclusions Serial CUS can facilitate the prognostic assessment of infants aged &lt;90 days with BM. Prolonged white matter hyperechogenicity, brain volume loss and cerebral perfusion disorders contribute to the risk of sequelae.

Vid Mlakar, Laurence Lesne, Stefania Vossio et al.

Abstract Cloning is a key molecular biology procedure for obtaining a genetically homogenous population of organisms or cell lines. It requires the expansion of new cell populations starting from single genetically modified cells. Despite the technical progress, cloning of many cell lines remains difficult. Cloning often fails either due to the strenuous conditions associated with manipulating cells or because many cells don’t tolerate a single-cell state. Here we describe a new cloning method utilizing low adhesion microcavity plates. This new technique, named microcavity-assisted cloning (MAC) was developed to clone difficult-to-clone HepG2 cells. The clones were produced following CRISPR/Cas9 knockout of the GSTA1 gene by a random distribution of 200, 400, and 800 cells into 550 microcavities of a 24-well low adhesion plate originally designed for the culture of spheroids. The knockout of GSTA1 was verified at the protein level using Western blotting. The advantages of the MAC method are its low cost, ease of the procedure, and the possibility of scaling up the throughput and automatization.

Andrea Cremaschi, Wenjian Yang, Maria De Iorio et al.

Acute lymphoblastic leukemia (ALL) is a heterogeneous hematologic malignancy involving the abnormal proliferation of immature lymphocytes, accounting for most pediatric cancer cases. ALL management in children has seen great improvement in the last decades thanks to better understanding of the disease leading to improved treatment strategies evidenced through clinical trials. Commonly a first course of chemotherapy (induction phase) is administered, followed by treatment with a combination of anti-leukemia drugs. A measure of the efficacy early in the course of therapy is minimal residual disease (MRD). MRD quantifies residual tumor cells and indicates the effectiveness of the treatment over the course of therapy. MRD positivity is defined for values of MRD greater than 0.01%, yielding left-censored observations. We propose a Bayesian model to study the relationship between patient features and MRD observed at two time points during the induction phase. Specifically, we model the observed MRD values via an auto-regressive model, accounting for left-censoring of the data and for the fact that some patients are already in remission after the induction phase. Patient characteristics are included in the model via linear regression terms. In particular, patient-specific drug sensitivity based on ex-vivo assays of patient samples is exploited to identify groups of subjects with similar profiles. We include this information as a covariate in the model for MRD. We adopt horseshoe priors for the regression coefficients to perform variable selection to identify important covariates. We fit the proposed approach to data from three prospective pediatric ALL clinical trials carried out at the St. Jude Children's Research Hospital. Our results highlight that drug sensitivity profiles and leukemic subtypes play an important role in the response to induction therapy as measured by serial MRD measures.

Shailesh Solanki, Ravi Prakash Kanojia, Pramod Kumar Gupta et al.

Background: Kasai portoenterostomy (KPE) is the initial treatment for biliary atresia (BA). Even after initial jaundice clearance, a significant number of children presented with the reappearance of symptoms due to ongoing fibrosis involving porta and intrahepatic ducts. Mitomycin-C (MMC) is an antifibrotic agent, and the study hypothesized that local application of MMC at porta can decrease fibrosis, which can improve jaundice clearance and lead to better native liver survival (NLS). Materials and Methods: This prospective randomized control trial included children with BA, who were allocated to groups A or B. The patients in both groups underwent standard KPE; in addition, a 5 French infant feeding tube (IFT) was placed near the porta through the Roux limb in Group B children. During the postoperative period, MMC was locally instilled over the porta in Group B children through IFT. Postoperative jaundice clearance and NLS were assessed and compared. Results: A total of 27 children were enrolled in the study, 16 in Group A and 11 in Group B. Both groups were comparable preoperatively. Although the NLS was not statistically significant in Group B, the survival was quite higher, that was 91%, 81%, and 73% at 6 months, 1 year, and 2 years, respectively, compared to 63%, 50%, and 38% in Group A. Conclusion: Children in Group B clinically showed an early jaundice clearance and a better trend of serial bilirubin levels as well as longer NLS than Group A, but it was not statistically significant. The procedure was technically easy, and no complication was encountered related to surgical technique or MMC instillation.

Chih-Hsiang Yu, Ya-Hsuan Chang, Der-Shiun Wang et al.

Abstract Mercaptopurine intolerance is an adverse effect of mercaptopurine administration in pediatric patients with acute lymphoblastic leukemia (ALL). NUDT15 variants have emerged as major determinants of mercaptopurine intolerance, especially in the Asian population. Two variants, c.55_56insGAGTCG in exon 1 and c.415C > T in exon 3, were commonly detected in the same allele, named NUDT15*1/*2. Although rare, compound heterozygous mutations also occur, with the two variants on different alleles (NUDT15*3/*6), which may confer tolerance to considerably lesser mercaptopurine dosage. Sanger sequencing or pyrosequencing can determine the NUDT15 variants but not the phase. Here, we designed an allele-specific PCR (AS-PCR) with locked nucleic acid-modified primers. A cohort of 63 patients harboring heterozygous c.55_56insGAGTCG and c.415C > T NUDT15 variations was selected for haplotyping using AS-PCR. Of the 63 patients, 60 harbored the NUDT15*1/*2 variant and three harbored compound heterozygous mutations, including two NUDT15*3/*6 and one NUDT15*2/*7 variants. These findings suggest that AS-PCR can determine NUDT15 diplotype and identify patients with compound heterozygous NUDT15 variants, which may enable precise genetic diagnosis of NUDT15. Nevertheless, a larger clinical trial is required to understand the clinical significance of NUDT15*3/*6 in pediatric patients with ALL because of its low incidence rate and challenges in detecting this variant.

Jisu Oh, Amy E. Riek, Kevin T. Bauerle et al.

Abstract Environmental factors may alter the fetal genome to cause metabolic diseases. It is unknown whether embryonic immune cell programming impacts the risk of type 2 diabetes in later life. We demonstrate that transplantation of fetal hematopoietic stem cells (HSCs) made vitamin D deficient in utero induce diabetes in vitamin D-sufficient mice. Vitamin D deficiency epigenetically suppresses Jarid2 expression and activates the Mef2/PGC1a pathway in HSCs, which persists in recipient bone marrow, resulting in adipose macrophage infiltration. These macrophages secrete miR106-5p, which promotes adipose insulin resistance by repressing PIK3 catalytic and regulatory subunits and down-regulating AKT signaling. Vitamin D-deficient monocytes from human cord blood have comparable Jarid2/Mef2/PGC1a expression changes and secrete miR-106b-5p, causing adipocyte insulin resistance. These findings suggest that vitamin D deficiency during development has epigenetic consequences impacting the systemic metabolic milieu.

Sahar Almahfouz Nasser, Saqib Shamsi, Valay Bundele et al.

Capturing high-resolution magnetic resonance (MR) images is a time consuming process, which makes it unsuitable for medical emergencies and pediatric patients. Low-resolution MR imaging, by contrast, is faster than its high-resolution counterpart, but it compromises on fine details necessary for a more precise diagnosis. Super-resolution (SR), when applied to low-resolution MR images, can help increase their utility by synthetically generating high-resolution images with little additional time. In this paper, we present a SR technique for MR images that is based on generative adversarial networks (GANs), which have proven to be quite useful in generating sharp-looking details in SR. We introduce a conditional GAN with perceptual loss, which is conditioned upon the input low-resolution image, which improves the performance for isotropic and anisotropic MRI super-resolution.