Children, Volume 8, Issue 6 (June 2021) – 101 articles

Background: The role of cardiopulmonary exercise testing (CPET) in the assessment of prognosis in CF (cystic fibrosis) is crucial. However, as the overall survival of the disease becomes better, the need for examinations that can predict pulmonary exacerbations (PEx) and subsequent deterioration becomes evident. Methods: Data from a 10-year follow up with CPET and spirometry of CF patients were used to evaluate whether CPET-derived parameters can be used as prognostic indexes for pulmonary exacerbations in patients with CF. Pulmonary exacerbations were recorded. We used a survival analysis through Cox Regression to assess the prognostic role of CPET parameters for PeX. CPET parameters and other variables such as sputum culture, age, and spirometry measurements were tested via multivariate cox models. Results: During a 10-year period (2009–2019), 78 CF patients underwent CPET. Cox regression analysis revealed that VO₂peak% (peak Oxygen Uptake predicted %) predicted (hazard ratio (HR), 0.988 (0.975, 1.000) p = 0.042) and PetCO₂ (end-tidal CO₂ at peak exercise) (HR 0.948 (0.913, 0.984) p = 0.005), while VE/VO₂ and (respiratory equivalent for oxygen at peak exercise) (HR 1.032 (1.003, 1.062) p = 0.033) were significant predictors of pulmonary exacerbations in the short term after the CPET. Additionally, patients with VO₂peak% predicted <60% had 4.5-times higher relative risk of having a PEx than those with higher exercise capacity. Conclusions: CPET can provide valuable information regarding upcoming pulmonary exacerbation in CF. Patients with VO₂peak <60% are at great risk of subsequent deterioration. Regular follow up of CF patients with exercise testing can highlight their clinical image and direct therapeutic interventions. Full article

The initial bedside care of premature babies with an intact cord has been shown to reduce mortality; there is evidence that resuscitation of term babies with an intact cord may also improve outcomes. This process has been facilitated by the development of bedside resuscitation surfaces. These new devices are unaffordable, however, in most of sub-Saharan Africa, where 42% of the world’s 2.4 million annual newborn deaths occur. This paper describes the rationale and design of BabySaver, an innovative low-cost mobile resuscitation unit, which was developed iteratively over five years in a collaboration between the Sanyu Africa Research Institute (SAfRI) in Uganda and the University of Liverpool in the UK. The final BabySaver design comprises two compartments; a tray to provide a firm resuscitation surface, and a base to store resuscitation equipment. The design was formed while considering contextual factors, using the views of individual women from the community served by the local hospitals, medical staff, and skilled birth attendants in both Uganda and the UK. Full article

Promoting hope was identified in our prior work as the top priority research question among patients and caregivers with diverse childhood-onset chronic conditions. Here, we aimed to construct a conceptual model to guide future research studies of interventions to improve hope. We conducted eight monthly virtual focus groups and one virtual workshop with patients, caregivers, and researchers to explore key constructs to inform the model. Discussions were facilitated by Patient Co-Investigators. Participants developed a definition of hope and identified promotors and inhibitors that influence the experience of hope. We utilized qualitative methods to analyze findings and organize the promotors and inhibitors of hope within three strata of the socio-ecologic framework: structural, interpersonal, and intrapersonal. Participants identified three types of interventions to promote hope: resources, navigation, and activities to promote social connection. The hope conceptual model can be used to inform the selection of interventions to assess in future research studies aimed at improving hope and the specification of outcome measures to include in hope research studies. Inclusion of the health care system in the model provides direction for identifying strategies for improving the system and places responsibility on the system to do better to promote hope among young patients with chronic illness and their caregivers. Full article

Identifying life risk factors of obesity early will help inform policymakers to design evidence-based interventions. The following study aims to assess the trend of overweight and obesity over four years among pre-school Kuwait children, and to examine their association with breakfast skipping (BF), sugary and sweetened beverage (SSB) consumption, and screen time. Children aged 2–5 years (n = 5304) were selected from 2016 to 2019 national surveys. Overweight and obesity were defined according to the World Health Organization references. The children’s mothers were asked about the BF of their children the day of the survey, their frequency of SSB consumption, and their weekly screen time use. Logistic regression was used to identify the risk factors associated with overweight/obesity. No significant decline (p values ≥ 0.12) was found for both overweight and obesity. Contrastingly, BF skipping, SSB consumption, and screen time declined (p < 0.0001). The BF skippers were found to have a 31% lower risk of being overweight. Daily TV watching, for 2–3 h, increases the odds of obesity by 5.6-fold. Our findings are encouraging regarding the decline in risky behaviours over time. However, more effort should be made both at the micro- and macro-level for a sustainable reduction in overweight and obesity. Full article

Background: Data on the end-of-life phase of children receiving palliative care are limited. The purpose of this study is to investigate the spectrum of symptoms of terminally ill children, adolescents, and young adults, depending on their underlying disease. Methods: Findings are based on a 4.5-year retrospective study of 89 children who received palliative care before they died, investigating the symptomatology of the last two weeks before death. Results: In this study, the most common clinical symptomatology present in children undergoing end-of-life care includes pain, shortness of breath, anxiety, nausea, and constipation. Out of 89 patients included in this study, 47% suffered from an oncological disease. Oncological patients had a significantly higher symptom burden at the end of life (p < 0.05) compared to other groups, and the intensity of symptoms increased as the underlying disease progressed. The likelihood of experiencing pain and nausea/vomiting was also significantly higher in oncological patients (p = 0.016). Conclusions: We found that the underlying disease is associated with marked differences in the respective leading clinical symptom. Therefore, related to these differences, symptom management has to be adjusted according to the underlying disease, since the underlying disorder seems to exert an influence on the severity of symptoms and thereby on the modality and choice of treatment. This study is intended to aid underlying disease-specific symptom management at the end-of-life care for children, adolescents, and young adults, with a specific focus on end-of-life care in a home environment. Full article

(1) Background: Hypertensive disorders of pregnancy (HDP) include gestational hypertension (GH), chronic hypertension (CH), preeclampsia (PE), and preeclampsia superimposed on chronic hypertension (CH with PE). HDP is associated with several short and long-term perinatal and neonatal complications, such as newborn growth restriction and death. This study aimed to establish the association between HDP, newborn growth abnormalities, and neonatal outcome. (2) Methods: This is a single-center retrospective cohort study of 63651 singleton deliveries. (3) Results: Univariate analysis showed a significantly increased risk of intrauterine and neonatal death associated with maternal hypertension and growth disorders. There were differences between growth charts used, with the highest risk of stillbirth for SGA defined by the Intergrowth chart (OR 17.2) and neonatal death for newborn growth restriction (NGR) based on Intergrowth (OR 19.1). Multivariate analysis showed that NGR is a stronger risk factor of neonatal death than SGA only. (4) Conclusions: HDP is significantly associated with growth abnormalities and is an independent risk factor of adverse outcomes. The presence of newborn growth restriction is strongly associated with the risk of neonatal death. The choice of growth chart has a substantial effect on the percentage of diagnosis of SGA and NGR. Full article

Thousands of refugees who have entered Europe experienced threatening conditions, potentially leading to post traumatic stress disorder (PTSD), which has to be detected and treated early to avoid chronic manifestation, especially in children. We aimed to evaluate and test suitable screening tools to detect PTSD in children. Syrian refugee children aged 4–14 years were examined using the PTSD-semi-structured interview, the Kinder-DIPS, and the Child Behavior Checklist (CBCL). The latter was evaluated as a potential screening tool for PTSD using (i) the CBCL-PTSD subscale and (ii) an alternative subscale consisting of a psychometrically guided selection of items with an appropriate correlation to PTSD and a sufficient prevalence (presence in more than 20% of the cases with PTSD). For both tools we calculated sensitivity, specificity, and a receiver operating characteristic (ROC) curve. Depending on the sum score of the items, the 20-item CBCL-PTSD subscale as used in previous studies yielded a maximal sensitivity of 85% and specificity of 76%. The psychometrically guided item selection resulted in a sensitivity of 85% and a specificity of 83%. The areas under the ROC curves were the same for both tools (0.9). Both subscales may be suitable as screening instrument for PTSD in refugee children, as they reveal a high sensitivity and specificity. Full article

Dentin dysplasia is a rare hereditary disorder, transmitted by autosomal dominant mode, affecting both dentin and pulp. In Type I crown morphology is normal, but root dentin organization loss leads to shorter roots. Mutations in the SSUH2, VPS4B and SMOC2 genes have been reported as responsible for this condition. Orthodontic treatment was conducted on an 11-year-old female patient presenting the disorder along with bilaterally impacted permanent maxillary canines, in close proximity to the roots of the lateral and central incisors. Treatment plan included lateral incisors extraction, surgical exposure and traction of the impacted canines. Light forces were applied from a custom-made trans-palatal arch. Comprehensive orthodontic treatment was performed using edgewise appliances. After 3 years and 2 months, group function occlusion was achieved. The canines underwent composite resin restorations. At one year post-retention, the dentition remained stable. Family-based genetic analysis did not reveal any mutations in the aforementioned genes pointing to further genetic heterogeneity of this disorder. As dental medicine becomes more sophisticated and personalized, the association between mutation type/function and orthodontic treatment response may provide useful therapeutic insights. The positive treatment response of the presented case could be attributed to a more “benign” mutation awaiting to be identified. Full article

Autism is a neurodevelopmental disorder presenting in the first 3 years of life. Deficits occur in the core areas of social communication and interaction and restricted, repetitive patterns of behavior, interests or activities. The causes of autism are unknown, but clinical genetic studies show strong evidence in favor of the involvement of genetic factors in etiology. Molecular genetic studies report some associations with candidate genes, and candidate regions have emerged from several genome-wide linkage studies. Here, we report a clinical case of autism in a 6-year-old boy with double duplication on 10q11.22q11.23 with ASD (Autism Spectrum Disorder), intellectual disability, developmental delay, hypotonia, gross-motor skills deficit, overgrowth and mild dysmorphic features. In the literature, only five cases of ASD with 10q11.21q11.23 duplication are reported. This is the first extensive clinical description of an ASD subject with 10q11.22q11.23 duplication. Our findings suggest that 10q11.21q11.23 microduplication could represent a copy number variant that predisposes to autism. Full article

Background: Researchers have found that manipulative skill competency in childhood not only helps to improve physical activity participation but also helps adolescents learn specialized sports skills. This study aimed to examine the effects of an eight-week bilateral coordinated movement (BCM) intervention on manipulative skill competency in school-aged children. Methods: The participants were 314 fourth-grade students from two elementary schools in China. This study used a two-arm quasi-experimental research design. For one elementary school, two fourth-grade classes were assigned to the BCM group and another two fourth-grade classes were assigned to the control group. For the other elementary school, one fourth-grade class was assigned to the BCM group and another fourth-grade class to the control group. The students in the BCM group received an eight-week, two 40 min BCM lessons in soccer, and another eight-week, two 40-min BCM lessons in basketball. The control group received an eight-week two regular 40 min PE lessons in soccer and basketball, respectively. The students’ manipulative skill competency in soccer and basketball skills were pre- and post-tested using the two PE metric assessment rubrics. Data were analyzed by means of descriptive statistics, independent sample t-tests, and ANCOVA and ANOVA repeated measures. Results: The results showed a significant main effect of time (pre-test vs. post-test) in soccer skills (F = 273.095, p < 0.001, η² = 0.468) and in basketball skills (F = 74.619, p < 0.001, η² = 0.193). Additionally, the results revealed a significant main effect of the group (BCM group vs. control group) in soccer skills (F = 37.532, p < 0.001, η² = 0.108) and a marginal significant main effect of the groups in basketball skills (F = 3.619, p = 0.058, η² = 0.011). Furthermore, there was a significant interaction effect between the time and the group in soccer skills (F = 37.532, p < 0.001, η² = 0.108) and in basketball skills (F = 18.380, p < 0.001, η² = 0.056). Conclusions: It was concluded that after participation in the eight-week, 16 40 min lessons of BCM, the fourth-grade students showed greater improvement in soccer and basketball dribbling, passing and receiving skills, compared to the control group. Full article

The aim of this study was to identify different profiles of physical activity (PA) behaviors according to the school student’s age stage and their parents’ or guardians education level. Seven hundred twenty-seven students and parents of different educational stages were invited to take part in this study. The participants included, Preschool (1 to 5 years old), Primary School (6 to 11 years old), Secondary School (12 to 15 years old), and High School (16 to 18 years old). A questionnaire to assess the educational level of parents (low, intermediate, and high) and their child’s PA level and sedentary behaviors across various age stages was administered. The results showed a number of different physical activity profiles for preschool (4), primary (6), secondary (7) and high school (2) students. Primary and secondary school children’s behavioral profiles were reported to differ significantly between both physical activity levels and sedentary behaviors, while preschool students’ behavioral profiles only differed between sedentary behaviors. Higher parental education was most prevalent in clusters with significantly higher levels of PA in primary and secondary students, while there were equivocal trends for parental education level influencing behavioral profiles of high school students. These findings suggest there is some association between the behavioral profiles of student’s physical activity and sedentary behavior, and parental education level, most noticeably during the early to middle age stages. Full article

This study was designed to establish safe guidelines for pediatric dental practice regarding temporomandibular joint (TMJ) range of motion (ROM) and mouth area (MA). A total of 438 children aged 3–15 years old of homogenous ethnicity participated in the study; the distribution of participants was approximately equal (sex; n = 15; age, n = 30). Maximum mouth opening (MMO), body height, weight, and age of each participant were recorded, and the TMJ ROM including anterior and lateral movements, MA, and mouth width were documented. Males showed higher mouth width, MMO, and MA values than females. MMO and MA increased with age, height, and weight in a statistically significant manner. MMO of 40 mm is reached by the age of 5.2 years, at a height of 105.9 cm and a weight of 18.6 kg. MMO showed a moderate correlation with age, height, weight, and mouth width, and MA moderately correlated with mouth width. Anterior and lateral movements did not show any close relation to these aforementioned factors. The findings of this study suggest that forcible mouth opening over 40 mm should be more cautiously considered, especially in children shorter than 105 cm, lighter than 18 kg and in children under 5 years old. Full article

Hard palate is regarded as an important part of the human skull, which contributes to the separation of the oral and nasal cavities. The aims of the study were to investigate the morphology of the hard palate in order to create a general guideline of three-dimensional values of the palate in a Kurdish sample in the city of Sulaimani as well as determining the possible correlations between different palatal parameters in class I malocclusion with the maxillary arch form and perimeter. A retrospective study design was adopted by collecting 100 study models of orthodontic patients aged 16–24 years old attending different private dental clinics in the city of Sulaimani seeking orthodontic management. In this study, three-dimensional palatal measurements including depth, length, and width were measured in an attempt to discover their correlation with each maxillary arch form and perimeter. Additionally, measurements of inter-molar width, inter-canine width, and arch perimeter were carried out. About two-thirds of those seeking orthodontic treatment were females. Nearly 80% of the study sample had narrow palate followed by 15 and 5% of intermediate palate and broad palate, respectively. In regard to arch form, almost 90% of subjects were with tapered maxillary arch form and 10% of them with oval arch form. Males had increased dimensions compared to females, with significant differences, except in palatal depth in the molar area, and palatine height index, in which females showed increased dimensions than males but the differences were statistically non-significant. A strong positive correlation was observed between arch form and canine depth. In regard to arch perimeter, a strong negative correlation was found with molar depth and a medium positive correlation with each of canine depth, palatal width, and palatal length. Full article

In this study, we evaluate mothers’ subjective experience of speaking and singing to their infants while they are in their incubators. We also discuss the relevance of the theoretical framework of Communicative Musicality for identifying the underlying mechanisms that may help explain its beneficial effects, both for parents and infants. Nineteen mothers talked and sung to their stable preterm infants in the incubators, for 5 min each, in three sessions over a period of 6 days. After each session, mothers were asked to assess in a self-report questionnaire the ease and the effectiveness of addressing their infants by speaking and singing and their prior musical experience. Perceived ease and effectiveness in communication were found to increase progressively from one session to the next. Mothers rated the speech to be increasingly more effective. This intuitive mean of interaction between parents and infants could be encouraged and supported by the nurses and the medical staff. Furthermore, individual musical experience affects perceived ease of communicating vocally with infants after a premature birth and should thus be encouraged during pregnancy. Full article

Intrauterine fractures are a rare clinical finding caused by abnormal early-life osteogenesis. In this case report, we reported a male infant with twenty-three intrauterine/fetal fractures resembling osteogenesis imperfecta and tested negative for COL1A1 and COL1A2 mutations. The infant’s mother had Ehlers–Danlos syndrome, hypermobility type. Whole-genome sequencing revealed that there were no pathologic mutations previously documented to be associated with intrauterine fracture. Genetic mutations reported to be associated with fragility fractures were identified. These include the pathogenic homozygous mutation in the CCDC134 gene. Other genetic variants that might be responsible for variable expressivity of the skeletal manifestation include the homozygous variants of the genes CCDC134, COL15A1 and ZFPM1, and the heterozygous variants of the genes MYH3, BCHE, AUTS2. This is the first reported case of in utero fractures, that was confirmed by X-ray after birth, in an infant who had no genetic evidence for osteogenesis imperfecta, had a homozygous pathogenic mutation of an osteogenesis gene and whose mother had Ehlers-Danlos syndrome hypermobility type. Therefore, we have identified a new genetic cause for in utero fractures. If after birth, this infant were found to have these fractures in various stages of healing with a negative genetic test for osteogenesis imperfecta he would have been misdiagnosed as due to nonaccidental trauma. Full article

Children with cerebral palsy (CP) experience various restrictions owing to their underdeveloped mobility. Home confinement due to the coronavirus disease 2019 pandemic may further increase these restrictions. We report the case of a 7-year-old boy with CP (Gross Motor Function Classification System level IV) whose motor function declined during the period when physical therapy was discontinued due to lockdown, approximately four months. At the end of the home confinement, the patient’s ability to maintain a sitting posture and weight-bearing capacity of the lower extremities decreased. His Gross Motor Function Measure total score also decreased from 34.5% to 31.9%. After resuming physical therapy, the patient recovered the function status seen before the discontinuation of physical therapy, but this took almost twice as long as the confinement period. We reaffirm that frequent physical therapy is crucial for maintaining motor function in non-ambulatory children with CP. As a countermeasure for the future, urgent efforts are needed for the development of telerehabilitation. Full article

Preterm children (born <37 gestational weeks) who are born at very early gestational age (<32 weeks, very preterm, VP) and/or with very low birth weight (≤1500 g, VLBW) are at increased risk for language and literacy deficits. The continuum between very early language development and literacy skills among these children is not clear. Our objective was to investigate the associations between language development at 2 years (corrected age) and literacy skills at 7 years in VP/VLBW children. Participants were 136 VP/VLBW children and 137 term controls (a 6-year regional population cohort, children living in Finnish-speaking families). At 2 years of corrected age, language (lexical development, utterance length) was assessed using the Finnish version of the MacArthur–Bates Communicative Development Inventory and the Expressive Language Scale from Bayley scales of Infant Development, second edition. At 7 years, children’s literacy skills (pre-reading skills, reading, and writing) were evaluated. Statistically significant correlations were found in both groups between language development at 2 years and literacy skills at 7 years (r-values varied between 0.29 and 0.43, p < 0.01). In the VP/VLBW group, 33% to 74% of the children with early weak language development had weak literacy skills at 7 years relative to those with more advanced early language skills (11% to 44%, p < 0.001 to 0.047). Language development at 2 years explained 14% to 28% of the variance in literacy skills 5 years later. Language development at 2 years had fair predictive value for literacy skills at 7 years in the VP/VLBW group (area under the receiver operating characteristic (ROC) curve (AUC) values varied between 0.70 and 0.77, p < 0.001). Findings provide support for the continuum between very early language development and later language ability, in the domain of literacy skills in preterm children. Full article

Since the beginning of the COVID-19 pandemic, there have been numerous reports and reviews on the complications caused by the disease, analyzing the acute and chronic consequences. The main symptoms of SARS-CoV-2 are dry cough, fever, and fatigue. COVID-19 appears to affect all systems, including renal, cardiovascular, circulatory, and respiratory systems, causing chronic obstructive pulmonary disease. We report on a 14-year-old male adolescent, who presented with thrombocytopenia (platelet count 92 × 10⁹ /L) and leukopenia (white blood count 4.2 × 10³ /μL) that was observed two months ago. Ten days before the first blood test, a viral infection with nasal congestion and runny nose was reported, without other accompanying symptoms. Viral antibodies screening revealed positivity for all the three specific COVID-19 antibodies. Further haematological evaluation with bone marrow aspiration revealed non-specific dysplastic features of the red cell and megakaryocyte progenitors. Although haematological alterations due to COVID-19 infection are available from adult patients’ reports, the effect of COVID-19 infection in the pediatric population is underestimated and this is the first case with such haematological involvement. Noteworthy, in the current case, the impact of the COVID-19 infection was not related to the severity of the disease, as the symptoms were mild. In similar cases, bone marrow aspiration would not be performed as a part of routine work-up. Thus, it is important when evaluating pediatric patients with COVID-19 infection to search and report those alterations in order to better understand the impact and the spectrum of clinical manifestations of the specific viral infection in children and adolescents. Full article

The present study examined the longitudinal relations between child perceptions of parental autonomy-support and peer preference in mainland China. Participants were N = 758 children (50.8% boys; M_age = 10.78 years, SD = 1.03 at Wave 1; M_age = 11.72 years, SD = 1.11 at Wave 2; M_age = 12.65 years, SD = 0.95 at Wave 3) from elementary and middle schools in Shanghai, P.R. China. Children were followed over three years from Grades 4–6 to Grades 6–8. Each year, children reported their perceived maternal/paternal autonomy-support and peer preference (being well-liked among peers) was measured via peer nominations. Among the results, peer preference positively predicted later perceptions of maternal and paternal autonomy-supportive parenting, whereas autonomy-supportive parenting did not significantly predict later peer preference. Results are discussed in terms of the interactions between parental autonomy-supportive parenting and children’s peer relationships in Chinese culture. Full article

Nearly thirty years ago, we invited a consortium of esteemed researchers to contribute to a volume entitled Family–Peer Relations: Modes of Linkage that provided a state-of-the-science appraisal of theory and research within the newly emerging discipline of family–peer relations. The volume’s first chapter was titled, “Themes and Theories: Perspectives on Processes in Family–Peer Relationships”, and its primary aims were to identify the processes in the family system that were posited to have a bearing on children’s development in the peer system (and vice versa), characterize potential mechanisms of linkage, describe extant lines of investigation, appraise empirical accomplishments, and identify issues in need of further investigation. Here, nearly thirty years hence, we are pleased to have the opportunity to reappraise the theory and research on family–peer relations. In this article, we revisit the primary objectives that were addressed in our previously published “Themes and Theories” chapter but do so with the express purpose of evaluating the discipline’s progress. Likewise, we also revisit our prior roadmap and associated calls-to-action to update these entities in light of past accomplishments, current limitations, and pressing sociocultural issues and concerns. Full article

Healthy eating and active lifestyles are associated with children’s healthy weight and cognitive development. This study examines whether family behaviors relevant for nutrition and activity levels are associated with children’s working memory, independent of their weight status. A convenience sample of child–caregiver dyads (n = 85 dyads) were recruited from a public preschool serving a low-income community in central Mexico. Caregivers reported the frequency of ten family behaviors using the Family Nutrition and Physical Activity screening tool. Children completed a test of their ability to recall four words after a 60-s distraction task, an assessment of working memory. Multiple linear regression models were used to test the association of children’s working memory with each family behavior, adjusting for children’s sex, age, mother’s age and education, and subjective social status and then also adjusting for children’s age- and sex-specific body mass index percentile (BMI-P) and covariates. Higher frequency of breakfast intake was significantly associated with working memory (β = 0.57, p = 0.013). This association was independent of children’s BMI-P. Other family behaviors (frequent family mealtimes, limiting screen time, and others) were not significantly associated with children’s working memory. Frequent breakfast intake could benefit young children’s working memory, regardless of their weight status. This association merits further investigation. Full article

Inflammatory myofibroblastic tumor (IMT) is a rare disease that mainly involves the lung and the abdomen with an intermediate clinical course but a recurrence rate between 15–30%. Radical surgery represents the gold standard of treatment, while chemotherapy and radiotherapy are considered for unresectable lesions. The identification of ALK translocations in IMT opened the option for the use of target therapies. Indeed, the ALK inhibitors have changed the treatment approach for aggressive lesions, improving the prognosis. Intraluminal upper-way IMT is extremely rare and represents a medical challenge. We reported an endotracheal IMT case presenting a previously unknown TRAF3-ALK fusion transcript. Full article

Given the lack of scales with a robust psychometric assessment of self-efficacy related to obesity in early adolescence, we aimed to obtain an instrument with high-quality validity and reliability items. Nonrandom samples (N = 2371) classified boys (1174, M = 12.83, SD = 0.84) and girls (1197, M = 12.68, SD = 0.78) from Mexico City and some cities of the Mexican Republic with obesity rates near to the national level mean. A multi-validity process and structural invariance analysis using the Perceived Self-efficacy Scale for Obesity Prevention were performed. A two-factor—physical activity and healthy eating—model with high effect-sized values—girls R² (0.88, p < 0.01) and boys R² (0.87, p < 0.01)—were obtained. Each factor explained more than half of the variance with high-reliability coefficients in each group and acceptable adjustment rates. The self-efficacy scale proved to have only girls, an invariant factor structure, or a psychometric equivalence between the groups. The obtained scale showed that a two-factor structure is feasible and appropriate, according to the highest quality of validity and reliability. Full article

Tufting enteropathy (TE) is caused by recessive EPCAM mutations, and is characterized by intractable diarrhea of congenital onset and disorganization of enterocytes. TE generally requires parenteral nutrition (PN) during childhood or intestinal bowel transplantation. We report three unrelated families with six children with TE. We highlight the high rate of disease-related mortality. We observe adequate weight gain with PN, but low to normal and stunted body length, supporting the recent notion that a short stature might be intrinsic to TE. The diagnosis of TE in the index patients from each family was delayed for months to years, even when clinical data, duodenal biopsies, or exome sequencing data were obtained early on. We identified three novel pathogenic EPCAM variants: a deletion of exon 1 that removes the ATG initiation codon, a missense variant c.326A > G (p.Gln109Arg), and nonsense mutation c.429G > A (p.Trp143*) in a compound heterozygous state with the Mediterranean splice site variant c.556-14A > G (Tyr186Phefs*6). Homozygosity for p.Gln109Arg was associated with absent EPCAM staining, and compound heterozygosity for p.Trp143*/Tyr186Phefs*6 was associated with reduced EPCAM staining in duodenal biopsies; such observations might contribute to a genotype–phenotype correlation in larger cohorts of TE patients. This study extends the clinical and molecular spectrum of TE. Full article

There are multiple forms of enchondromatosis with Ollier’s and Maffucci’s being the most prevalent types. Limb length discrepancy is a common problem in patients with Ollier’s and Maffucci’s enchondromatosis. There are multiple reports about lengthening bones in patients with enchondromatosis using external fixators. However, there are no case series regarding the use of implantable lengthening technology. The purpose of this paper is to describe our experience with implantable nail lengthening in patients with enchondromatosis. A retrospective chart and radiographic review of patients with enchondromatosis who underwent implantable nail limb lengthening was performed. Seven patients with 14 bony segments were reviewed. A total of 11/14 lengthenings were completed without difficulty. There were no issues in terms of fixation location in patients with Ollier’s disease. One patient with Maffucci’s syndrome experienced migration of the nail during two lengthenings due to a combination of intralesional fixation and preconsolidation. One patient with Ollier’s disease developed a knee extension contracture requiring manipulation under anesthesia. No other complications were recorded. The use of implantable nail lengthening to resolve limb length discrepancies in patients with Ollier’s disease appears to be safe and effective. Full article

The objective of the study is to determine if early high-dose caffeine (HD) therapy is associated with shorter duration of mechanical ventilation, bronchopulmonary dysplasia (BPD), or decreased need for mechanical ventilation. We conducted a single center, retrospective cohort study of 273 infants less than 32 weeks gestational age (GA). Infants receiving early HD (10 mg/kg/day maintenance) caffeine citrate started within 24 h of life were compared with those receiving LD (6 mg/kg/day) with variable timing of initiation using linear and logistic regression models. The infants in the early HD group had 91.4 (95% confidence interval (CI): −166.6, −16.1; p = 0.018) less hours of mechanical ventilation up to 36 weeks PMA or discharge as compared with the LD group. Moreover, infants in the HD group had 0.37 (95% CI: 0.14, 0.97; p = 0.042) times lower odds of developing moderate/severe BPD compared with the LD group. Infants receiving early HD caffeine had improved respiratory outcomes with no increase in measured comorbidities. Large prospective studies are needed to determine the long-term outcomes of using high-dose caffeine prophylaxis for preterm infants. Full article

Neuroblastoma (NB) is the most common extracranial solid tumor in childhood, accounting for approximately 15% of all cancer-related deaths in the pediatric population. The overall survival of children with high-risk disease is around 40–50% despite the aggressive treatment protocols. In accordance with the most recent guidelines, a complete classification of the primary tumor, including its histopathological and molecular analysis, is necessary. In this regard, the biopsy of the primary tumor is an important diagnostic procedure adopted not only to confirm the diagnosis but also for staging and risk stratification of the disease. In this study, the authors describe their unicentric experience with four different approaches adopted for sampling NB tumors: (i) the open incisional biopsy; (ii) the minimally invasive thoracoscopic/laparoscopic incisional biopsy; (iii) the ultrasound-guided core needle biopsy; (iv) the laparoscopic-assisted core needle biopsy. The benefits of each technique are analyzed along with their contraindications. Full article

Multisystemic inflammatory syndrome in children (MIS-C) is a new potentially life-threatening disease that is related to coronavirus disease 2019 (COVID-19). The aim of this study is to reveal the clinical and laboratory results of MIS-C and the role of therapeutic plasma exchange (TPE) in its treatment. Clinical, laboratory and radiological characteristics of the patients who were admitted to the pediatric ward and pediatric intensive care unit (PICU) of a tertiary hospital with a diagnosis of MIS-C between April 2020 and March 2021 were included in the study. Forty-one patients were admitted to our hospital with a diagnosis of MIS-C. Twenty-one (51.2%) patients were admitted to the PICU. Six patients needed invasive mechanical ventilation (14.6%), 10 patients (24.4%) TPE and 3 patients (7.3%) needed extracorporeal membrane oxygenation (ECMO). The patients were grouped according to need for PICU admission (Group 1: no need for PICU, Group 2: need for PICU admission). Group 2 had significantly higher levels of C-reactive protein (CRP), alanine aminotransferase (ALT), ferritin, D-dimer, pro-B type natriuretic peptide (pro BNP) and lactate (p < 0.05). Hyponatremia found to be an independent risk factor for inpatient MIS-C in the PICU. We think that dynamic laboratory trending is beneficial in determining the need for PICU admission and TPE may be effective in critically ill patients. Full article