Italian Journal of Pediatrics最新文献

Human Milk is the best option for infant feeding; and for this reason, it should be promoted, protected, and supported. HM is an individual-specific-dynamic biofluid, characterized by an extreme variability in its composition. A wealth of literature has investigated how HM is related to healthy development. An association between HM composition, including nutrients and growth-related hormones as well as other bioactive components, and short-term and long-term infant outcomes could support this statement; however, the evidence is limited. In fact, HM composition is difficult to examine as it is dynamic and changes within a single feed, diurnally, according to stage of lactation and between and within populations. The aim of this review is summarizing only the innovative knowledge on the association between HM composition and long-term outcomes: infant growth and neurodevelopment. In this specific contest, macronutrients and historical biological component with well recognized effect were excluded (i.e. LCPUFA, DHA, iodine). Revised articles have been found in MEDLINE using breast milk-related outcomes, neurodevelopment, infant growth, breast milk-related biological factors, biomarkers, biological active components, and constituents as keywords. Moreover, we focus our search on the latest research results.

Background: Motor competence (MC) is a key component reflecting one's ability to execute motor tasks and is an important predictor of physical fitness. For adolescents, understanding the factors affecting MC is pertinent to their development of more sophisticated sporting skills. Previous studies considered the influence of poor proprioceptive ability on MC, however, the relationship between lower limb joint position sense, kinematic control, and MC is not well understood. Therefore, the aim of this study was to determine the relation between joint position sense and kinematic control with MC in adolescents during a lower limb movement reproduction task.

Methods: This study was a cross-sectional design. Young people (n = 427, 196 girls and 231 boys) aged 13 to 14 years were recruited. A movement reproduction task was used to assess joint position sense and kinematic control, while the Movement Assessment Battery for Children (mABC-2) was used to assess MC. In this study, participants were categorized into the Typically Developed (TD, n = 231) and Probable Developmental Coordination Disorder (DCD, n = 80) groups for further analysis of joint position sense, kinematic control, and MC between groups.

Results: Kinematic data, specifically normalized jerk, showed a significant correlation with MC. There was no correlation between knee joint position sense and MC, and no group differences between DCD and TD were found.

Conclusions: Joint position sense should not be used as a measure to distinguish TD and DCD. Rather than joint position sense, control of kinematic movement has a greater influence on the coordination of the lower limbs in adolescents. Movement control training should be implemented in the clinical setting to target kinematic control, rather than focus on joint position sense practice, to improve motor competency.

Trial registration identifier: NCT03150784. Registered 12 May 2017, https://clinicaltrials.gov/study/NCT03150784 .

Background: The Coiled-Coil Domain-Containing Protein 88 A (CCDC88A) gene encodes the actin-binding protein Girdin, which plays important roles in maintaining the actin cytoskeleton and in cell migration and was recently associated with a specific form of epileptic encephalopathy. Biallelic protein-truncating variants of CCDC88A have been considered responsible for progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO)-like syndrome. To date, only three consanguineous families with loss-of-function homozygous variants in the CCDC88A gene have been reported. The described patients share many clinical features, such as microcephaly, neonatal hypotonia, seizures, profound developmental delay, face and limb edema, and dysmorphic features, with a similar appearance of the eyes, nose, mouth, and fingers.

Case presentation: We report on a child from a nonconsanguineous family who presented with profound global developmental delay, severe epilepsy, and brain malformations, including subcortical band heterotopia. The patient harbored two heterozygous pathogenic variants in the trans configuration in the CCDC88A gene, which affected the coiled-coil and C-terminal domains.

Conclusions: We detail the clinical and cerebral imaging data of our patient in the context of previously reported patients with disease-causing variants in the CCDC88A gene, emphasizing the common phenotypes, including cortical malformations, that warrant screening for sequence variants in this gene.

Background: Multisystem Inflammatory Syndrome in Children (MIS-C) is a rare complication, which develops within 3-6 weeks after SARS-CoV2 infection. The coronavirus disease 2019 (COVID-19) vaccine was firstly introduced in adults and adolescents and later in patients aged 5-11 years old. Although a reduced incidence of MIS-C and with less severe symptoms has been reported in vaccinated adolescents, there is little knowledge in children younger than 12 years of age. In addition, it is not understood whether MIS-C in vaccinated patients can be triggered by Covid19 vaccination or be secondary to a recent asymptomatic Sars-Cov2 infection.

Case presentation: We describe the case of a Caucasian 6-year-old girl, one month after double COVID-19 vaccination, who presented fever, acute abdominal pain, rash, pharyngotonsillitis, cheilitis, cervical lymphadenopathy without a prior detected Sars-Cov2 infection. She also had lymphopenia, increase in inflammatory markers, cardiac and pulmonary involvement. Therefore, we dosed both anti Sars-Cov2 Spike and Nucleocapsid antibodies, which were positive and allowed us to confirm the diagnosis of MIS-C. We promptly administered intravenous immunoglobulins and methylprednisone, resulting in the initial regression of fever. During the hospitalization, the child also developed pancreatitis and severe neurological involvement, including irritability, drowsiness, distal tremor, dyskinesia and buccal asymmetry with complete resolution after 2 months. After 3 months from the onset of the symptoms, she reported a transient loss of hair compatible with telogen effluvium. After 12 months of follow-up, she did not show any symptomatic sequelae.

Conclusions: This case raises the question of whether COVID-19 vaccination may be involved in the pathogenesis of MIS-C in children between the ages of 5 and 11 years old.

Background: Chest physiotherapy for airway clearance is not recommended in children hospitalized with bronchiolitis. The updated Cochrane meta-analysis suggests that slow expiratory techniques could slightly improve clinical severity, but the evidence certainty is low and the clinical significance of this change is unknown. We investigated whether the prolonged slow expiration technique (PSET) would impact the 24-h food intake of these children.

Methods: We conducted a two-arm double-blind randomized controlled trial. Hospitalized children aged from 1 to 12 months, bottle-fed or diversified and referred for airway clearance were included. Both groups received upper airway clearance at inclusion and standard treatments. The experimental group received PSET including rhinopharyngeal unclogging and targeted unprovoked cough. The primary outcome was the 24-h food intake. Clinical severity, vomit episodes and sleep quality were also recorded. An ordinary least squares linear regression for quantitative variables was modelled for between-group comparisons.

Results: From January 9, 2019, to December 1, 2022, 42 children were randomized with a 1:1 ratio (mean age: 5.0 (± 2.9) months). The 24-h food intake did not differ between groups (estimate: 1.8% (95%CI -7.0 to 10.6); p = 0.68). PSET had no effect on SpO2, clinical severity, RR and HR at the follow-up assessments (5 min, 30 min and 24 h after intervention), nor on the number of vomit episodes, total sleep time and SpO2 during sleep.

Conclusions: PSET did not affect food intake or the 24-h course of bronchiolitis more than standard treatment in children hospitalized for moderate bronchiolitis.

Trial registration: NCT03738501  registered on 13/11/2018, Slow Expiratory Technique to Improve Alimentation in Children With Bronchiolitis (BRONCHIOL-EAT); https://classic.

Clinicaltrials: gov/ct2/show/NCT03738501.

Background: This study aims to report the phenomenon of Myelin oligodendrocyte glycoprotein antibody-associated encephalitis induced by Mycoplasma pneumoniae infections and promote the potential benefits of combining early immunotherapy and anti-M-pneumoniae therapy for these patients.

Methods: Three children with MOG-IgG-associated encephalitis due to M. pneumoniae infections who were treated at our hospital from September to November 2023 were included in the study. We investigated and analyzed the background and clinical features of these patients.

Results: Three patients developed headaches, seizures, and/or other neurological manifestations, elevated mononuclear cells in cerebrospinal fluid, intracranial lesions on cranial magnetic resonance imaging (MRI), and positive MOG-IgG in serum, within 10-14 days. They were diagnosed with MOG-IgG-associated encephalitis due to M. pneumoniae infections, the treatment consisted of intravenous immunoglobulin, glucocorticoid, and erythromycin, then they were completely recovered.

Conclusion: Mycoplasma pneumoniae (M. pneumoniae) infections can cause oligodendrocyte glycoprotein (MOG) antibody-associated encephalitis. The recognition of this condition will promote the potential benefits of combining early immunotherapy and anti-M. pneumoniae therapy for patients with MOG-IgG-associated encephalitis.

Background: Silver-Russell Syndrome (SRS, MIM #180860) is a clinically and genetically heterogeneous disorder characterized by intrauterine and postnatal growth retardation; SRS is also accompanied by dysmorphic features such as triangular facial appearance, broad forehead, body asymmetry and significant feeding difficulties. The incidence is unknown but estimated at 1:30,000-100,000 live births. The diagnosis of SRS is guided by specific criteria described in the Netchine-Harbison clinical scoring system (NH-CSS).

Case presentation: Hereby we describe four patients with syndromic short stature in whom, despite fitting the criteria for SRS genetic analysis (and one on them even meeting the clinical criteria for SRS), molecular analysis actually diagnosed a different syndrome. Some additional features such as hypotonia, microcephaly, developmental delay and/or intellectual disability, and family history of growth failure, were actually discordant with SRS in our cohort.

Conclusions: The clinical resemblance of other short stature syndromes with SRS poses a risk of diagnostic failure, in particular when clinical SRS only criteria are met, allowing SRS diagnosis in the absence of a positive result of a genetic test. The presence of additional features atypical for SRS diagnosis becomes a red flag for a more extensive and thorough analysis. The signs relevant to the differential diagnosis should be valued as much as possible since a correct diagnosis of these patients is the only way to provide the appropriate care pathway, a thorough genetic counselling, prognosis definition, follow up setting, appropriate monitoring and care of possible medical problems.

Background: Docosahexaenoic acid (DHA) has been reported to be associated with the children's neurodevelopment, who may be exposed to tobacco smoke simultaneously. The evidence about joint effect of DHA intake and tobacco smoke exposure on children and adolescents' learning disabilities (LD) was limited. The objective of this study was to assess the joint effect of DHA intake and tobacco smoke exposure on children and adolescents' LD.

Methods: A cross-sectional analysis of the NHANES 1999-2004 was performed. Children and adolescents aged 6-15 years old were included. The outcome was diagnosed by parental report of ever health professionals or school representative-identified LD. Dietary DHA intake data were obtained by food frequency questionnaire and tobacco smoke exposure levels were evaluated by serum cotinine levels. Weighted univariable and multivariate logistic regression analyses were conducted to determine the joint effect of DHA intake and tobacco smoke exposure on LD in children and adolescents, with odds ratios (ORs) and 95% confidence intervals (CIs). This joint association was further assessed after stratification by age, gender, body mass index, the history of attention deficit disorder and seen mental health professional.

Results: We identified 5,247 children and adolescents in present study, of whom 593 (11.30%) had LD. After adjusting covariates, we observed children and adolescents with DHA intake (OR = 0.76, 95%CI: 0.61-0.96) was related to lower incidence of LD; children who exposure to tobacco smoke was related to higher incidence of LD (OR = 1.54, 95%CI: 1.07-2.23); children and adolescents who exposure to tobacco smoke and without DHA intake were related to highest odds of LD (OR = 2.08, 95%CI: 1.37-3.17, P for trend = 0.042), that was, DHA and tobacco smoke exposure may have a joint effect on the odds of LD in children and adolescents. Subgroup analyses suggested this joint effect was robust especially among children and adolescents with normal & underweight BMI and without the history of attention deficit disorder and seen mental health professional.

Conclusion: Increasing the DHA intake and reducing tobacco smoke exposure may have a potential role in the prevention of LD in children and adolescents. This joint effect warrants further investigation by large-scale prospective study.

Background: We conducted this study to assess the impact of an intervention to interrupt mother-to-child transmission on the height and weight of syphilis-exposed infants after receiving penicillin prophylaxis after birth and to provide a scientific basis for further elimination of mother-to-child transmission.

Methods: We recruited 419 infants born to syphilis-infected mothers from 2015 to 2020 in Changzhou, and performed 1:1 matching to infants born to syphilis-free mothers during the same period. All infants were followed up to 18 months of age. We collected height and weight data and compared them.

Results: At 18 months of age, the height and weight of the syphilis-exposed infants were almost greater than the WHO reference standards. However, when compared with local unexposed infants, there were almost no differences. The boys born to mothers who received two courses of treatment had longer body lengths at 18 months of age than did those born to mothers who did not receive two courses of treatment, and the girls born to mothers who did not receive treatment had lower body weights at 3 months of age than did both treated groups.

Conclusion: The growth trajectory of infants without congenital syphilis born to syphilis-infected mothers is virtually indistinguishable from that of the general local population. Syphilis-exposed newborns can receive preventive treatment as a public health intervention.

Background: In septic arthritis, joint lavage can be performed using arthrocentesis (articular needle aspiration) or arthrotomy. The use of fluoroscopy to guide the puncture involves radiation. Ultrasound (US) guidance is still little recommended to guide the treatment of septic arthritis in children. We wanted to know whether treating septic arthritis in children was feasible and safe under ultrasound (US) guidance.

Methods: We retrospectively included 67 children (mean age, 3.0 years; range: 1 month-12 years) treated for septic arthritis of the hip, shoulder, or ankle using arthrocentesis or arthrotomy under US or fluoroscopic guidance (non-US group) with at least two years of follow-up.

Results: We found no significant difference between the groups. After arthrocentesis, patients in the US group remained in hospital for 0.8 days longer than those in the non-US group, but the difference was not significant. After arthrotomy, the arthrotomy-US group required 0.4 more days of hospitalization than the non-US group, but the difference was not significant. Patients in the US group exhibited higher initial CRP and WBC values than patients treated without US, although the differences were not significant. The WBC values of the arthrocentesis-US groups were higher than those of the non-US groups initially and at 72 h, but non significantly so; they became similar on day 5. Three puncture failures required arthrotomy (two under US guidance). Three patients required early revision surgery: one had undergone arthrocentesis with US, one arthrocentesis without US, and one arthrotomy without US. At the last follow-up, there were no clinical sequelae but two hip arthrotomies (one US and one non-US child) showed asymptomatic calcifications.

Conclusions: US guidance is feasible and safe for treating septic arthritis in children, visualizing structures not shown by X-rays and avoiding radiation exposure during surgery.

Level of evidence: IV (case series).

Trial registration: IRB-MTP_2021_05_202100781.