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Results Ninety-six children met inclusion criteria and completed the study. The trained subjects' pain reports had significantly (p = 0.002) lower within-subject standard deviation (0.41 ± 0.31) than the control group (0.67 ± 0.46). In line, regarding absolute difference, the concordance of children's pain reports was twice better in the trained group (mean difference of 0.43 ± 0.40) than in the control group (0.88 ± 0.70) (p less then 0.001). Discussion Our results suggests that children's ability to report pain is a skill that can be improved. Future studies should test the potential clinical impacts of educational interventions aimed to improve pain assessment in children and adults.Obesity has become a worldwide health concern among the pediatric population. The prevalence of non-alcoholic fatty liver disease (NAFLD) is growing rapidly, alongside the high prevalence of obesity. NAFLD refers to a multifactorial disorder that includes simple steatosis to non-alcoholic steatohepatitis (NASH) with or devoid of fibrosis. NAFLD is regarded as a systemic disorder that influences glucose, lipid, and energy metabolism with hepatic manifestations. A sedentary lifestyle and poor choice of food remain the major contributors to the disease. Prompt and timely diagnosis of NAFLD among overweight children is crucial to prevent the progression of the condition. Yet, there has been no approved pharmacological treatment for NAFLD in adults or children. As indicated by clinical evidence, lifestyle modification plays a vital role as a primary form of therapy for managing and treating NAFLD. Emphasis is on the significance of caloric restriction, particularly macronutrients (fats, carbohydrates, and proteins) in altering the disease consequences. A growing number of studies are now focusing on establishing a link between vitamins and NAFLD. Different types of vitamin supplements have been shown to be effective in treating NAFLD. In this review, we elaborate on the potential role of vitamin E with a high content of tocotrienol as a therapeutic alternative in treating NAFLD in obese children.Aims We evaluated the impact of cystic fibrosis-related diabetes (CFRD) on lung disease and nutritional status. Study Design The retrospective cohort study evaluated the subjects' medical records from 2004 to 2019. All participants older than 10 years diagnosed by a 30-minutely sampled OGTT formed OGTT-CFRD subgroup. The participants diagnosed with continuous glucose monitoring (CGM) (at least two peaks above 11.1 mmol/l and more than 10% of recorded time above 7.8 mmol/l) formed a CFRD-CGM subgroup. The participants without CFRD formed a non-CFRD group. The longitudinal follow-up was made 2 years before and 3 years after insulin therapy initiation. Results Of 144 participants included, aged 10-55 years (44% males), 28 (19.4%) had CFRD. The HbA1c was significantly lower in the CGM-CFRD in comparison to the OGTT-CFRD subgroup (5.9 ± 0.62 and 7.3 ± 1.7% respectfully; p = 0.04). Subjects with CFRD were malnourished in comparison to non-CFRD, with significant improvements with insulin replacement therapy in regard to BMI Z-score (-1.4 ± 1.3 vs. -0.5 ± 1.2%, p = 0.04) and pulmonary exacerbation score (p = 0.02). In OGTT-CFRD subgroup there is an increase in FEV1 (62.7 ± 26.3 to 65.1 ± 21.7%, p = 0.7) and decrease in FVC (from 76.4 ± 24.2 to 71.2 ± 20%, p = 0.003) from diagnosis to second year of follow-up. In CGM-CFRD subgroup there was a decrease in FEV1 (from 58.2 ± 28.2 to 52.8 ± 25.9%, p = 0.2) and FVC-values (from 72.4 ± 26.5 to 67.4 ± 29.1%, p = 0.08).Chronic Pseudomonas aeruginosa infection was more prevalent in the CFRD group (p = 0.003). Conclusion Continuous glucose monitoring is a useful tool for insight of glucose impairment and diagnosis of CFRD. Early recognition of CFRD and therapeutic intervention has favorable effects on clinical course of the disease.Background Learning disabilities in children are a major public health concern worldwide, having a prevalence of 8%. They are associated with lost social, educational, and ultimately, professional opportunities for individuals. These disabilities are also very costly to governments and raise the issue of the appropriate means of screening. Unfortunately, validated tools for preliminary appraisal of learning and cognitive function in struggling children are presently restricted to specific age ranges and cognitive domains. This study sought to validate a first-line battery for assessment of academic skills and cognitive functions. Materials and Methods The computerized Adaptable Test Battery, or BMT-i, includes a panel of tests for the first-line assessment of children's academic skills and cognitive functions. The tests reflect expected abilities for the age group in question, exploring academic skills (written language and mathematical cognition) and cognitive domains (verbal, non-verbal, and attentional/executive functions). The authors relied on the results of these tests for a sample of 1,074 Francophone children representative of the mainland French school-age population (522 boys and 552 girls, ages 4-13, from 39 classes at 7 public and 5 private schools). Veliparib datasheet Thirteen speech-language pathologists and neuropsychologists individually administered the tests. Results The psychometric characteristics of the empirical data obtained showed acceptable to good test homogeneity, internal consistency (Cronbach's alpha > 0.70), test-retest reliability (intraclass correlation coefficients ~0.80), and consistency with reference test batteries (r 0.44-0.96). Conclusion The BMT-i was validated in a large sample of children in mainstream French schools, paving the way for its use in first-line screening of learning disabilities among children with complaints, whether their learning difficulties have been flagged by their parents or by their teachers.Nuclear factor κappa-B (NFκB) is a family of transcription factors involved in regulating inflammation and immunity. Mutations in the NFκB1 pathway are associated with primary immune defects and underlie the most common monogenic etiology of common variable immunodeficiency (CVID). However, little is known about how NFκB1 defects or primary immunodeficiency (PID) complicate pregnancy. We present a previously healthy 34-year-old patient who suffered from poor wound healing and sterile sepsis during the post-partum period of each of her three pregnancies. She was otherwise asymptomatic, but her daughter developed Evans Syndrome (ES) with hypogammaglobulinemia prompting expanded genetic testing which revealed a novel monoallelic variant in NFκB1. This case highlights that pregnancy-related complications of PID can be difficult to recognize and may portend adverse patient outcomes. For these reasons, guidance regarding diagnosis and management of women of childbearing age with PID is warranted.Background A great majority of children with idiopathic nephrotic syndrome will relapse after successful treatment of the initial episode. The possibility that different steroid dosing regimens at onset, adjusted for risk factors, can reduce the rate of relapse represents an interesting option to investigate. Objectives To evaluate the effect of the initial steroid regimen, adjusted for time to remission (TTR), on the frequency of relapses and steroid dependence, and to verify the influence of prognostic factors on disease course. Methods A multicentre, prospective, cohort study. Children with nephrotic syndrome, with TTR ≤ 10 days (Group A), were given a 20-week prednisone regimen (2,828 mg/m2) and those with a TTR >10 days, a 22-week regimen (3,668 mg/m2) (Group B). Previously published retrospective data from the same centers were also evaluated. Main outcomes were relapse rate, number of frequent relapsers + steroid dependent children and total prednisone dose after induction. Results 143 children were entors of relapse risk, however this outcome was not modified by higher prednisone regimens. Clinical Trial Registrationhttps//www.ClinicalTrials.gov/, identifier NCT01386957 (www.nefrokid.it).Background Mitochondrial dynamics, including mitochondrial fission and fusion, transport and distribution, biogenesis and degradation, are critical to neuronal function. The dynamin-1 like (DNM1L) gene encodes dynamin-related protein 1 (DRP1/DLP1), which is an evolutionarily conserved member of the dynamin family and is responsible for mitochondrial division. DNM1L variants can lead to mitochondrial fission dysfunction and neurological disorders. Methods We report a case of DNM1L-related mitochondrial disease admitted to Tianjin Children's Hospital. We searched for similar reported cases in the PubMed database using the terms "DNM1L" and "mitochondrial," reviewed recent literature to summarize the clinical and genetic characteristics, and analyzed genotype-phenotype correlations. Results The patient presented with psychomotor retardation, motor disturbance (muscle weakness with paroxysmal hypermyotonia), and a de novo variant (c.116G>A, g.22229G>A, p.S39N) in the GTPase domain of DNM1L (reference sequence NM_012062), which has not previously been reported in the literature. This case was combined with an additional 35 cases identified in 20 relevant references in order to analyze a total of 36 patients. The male-to-female ratio was 11.06, and the median age of onset was 6 months (range, neonatal period to 9 years). The cardinal symptoms included psychomotor retardation in 77.8% (28/36), limb paralysis in 66.7% (18/27), dystonia in 82.8% (24/29), and epilepsy in 59.4% (19/32). The clinical manifestations of variants in the GTPase domain of DRP1 were milder than those identified in the middle domain. Conclusion This case report describes a new variant of the DNM1L gene, and summarizes previously reported cases. Furthermore, the clinical phenotype and the genotype of DNM1L gene-associated mitochondrial disease was analyzed to improve the understanding of this disease.Background Exercise-induced laryngeal obstruction (EILO) is common in young people with exertional breathing difficulties. Psychological characteristics have been proposed as underlying contributors; however, the evidence for this is limited. Objectives Describe self-reported health, self-efficacy, and anxiety symptoms in adolescents with EILO, and address possible associations with EILO subtypes and severity. Methods Cross-sectional study of 71/180 (39%) adolescents tested for EILO at Haukeland University Hospital during 2014-2016, age range 14-18 years. Validated questionnaires were used to assess general self-rated health, subjective health complaints (Health Behavior in School-aged Children-Symptom Check List; HBSC-SCL), general self-efficacy (GSE), and anxiety symptoms (SCARED). The outcomes were compared with normative data from comparable unselected populations. Results The HBSC-SCL items for somatic complaints revealed weekly or more often occurrence of headache in 42%, abdominal pain in 30%, backache in 31%, and dizziness in 32%. For psychological complaints, corresponding figures were 26% for feeling low, 43% for irritability or bad mood, 33% for feeling nervous, and 38% for sleep problems. Mean (range) GSE score was 3.13 (2.2-4.0), and reports suggesting anxiety symptoms were rare. The outcomes were in line with normative data from comparable unselected populations. Self-rated health, and scores obtained for HBSC-SCL, GSE, and SCARED were similarly distributed across EILO subtypes and severity. Conclusion Self-reported health, self-efficacy, and level of anxiety symptoms in adolescents with laryngoscopically confirmed EILO were similar to data obtained in comparable unselected populations, irrespective of EILO subtype and severity. The findings challenge the notion that pediatric EILO is causally related to psychological problems.