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Background Isoelectric focusing (IEF) of serum transferrin (Tf) is still the method of choice for diagnosis of congenital disorders of glycosylation (CDG). An abnormal glycosylation is also a known phenomenon in adult liver disease patients. The aim of this study was to characterize glycosylation disturbances in pediatric patients with primary liver disease. However, there are no reports of this phenomenon in children. Materials and Methods Between 1995 and 2019, circa 2,000 serum Tf isoform analyses have been performed in children with primary liver diseases; some of them underwent subsequent analyses. We enrolled in this study 19 patients who developed an acute liver injury (ALI)/failure (ALF) or exhibited a chronic liver disease (CLD) and were evaluated and listed for liver transplantation (LTx) or had just undergone this procedure, and secondary abnormal serum Tf isoform profile. Results Among 12 patients with ALI/ALF, 10 had an increased percentage of asialo-, monosialo-, and disialo-Tf isoforms. All patients with CLD had an increased percentage of asialo- and monosialo-Tf isoform. Two patients diagnosed with recurrent ALF had very specific serum Tf profile with a huge increase in the asialo- and monosialo-Tf isoform. On follow-up analyses (available in some patients), serum Tf IEF profile normalized in parallel to normalization of liver function tests, spontaneously or during treatment, including glucocorticosteroids in AIH, LTx in CLD. Conclusions All pediatric patients with primary liver disease had increased asialo-Tf as well as monosialo-Tf isoforms. None of them had elevated percentage of trisialo-Tf isoform.Objectives Oral sucrose is commonly used to provide analgesia to neonates during painful procedures, such as venepuncture. The additional benefits of reducing pain during venepuncture when oral sucrose is combined with nonpharmacological strategies have not been extensively studied. This randomized controlled trial compared the efficacy of oral sucrose with nonnutritive sucking vs. oral sucrose with nonnutritive sucking plus "holding-cuddling" for pain management during venepuncture in term infants from birth to 3 months of life. Methods Seventy-eight infants were equally randomized to receive 24% oral sucrose with nonnutritive sucking (control group) or 24% oral sucrose with nonnutritive sucking plus "holding-cuddling" (being held in a secure, cuddling position; experimental group) before venepuncture. Behavioral response to pain was measured by the 0-10 ranking scale "acute pain for neonates (APN)" at 30 and 60 s after venepuncture. Results Within the study sample, APN scores were ≥ 2 for 32/68 (47%) infants. "Holding-cuddling" did not significantly reduce mean APN scores at 30 and 60 s, but the rate of infants experiencing a high pain score (APN ≥ 8) at 60 s after the venepuncture was significantly lower in the experimental group compared to controls [4/34 vs. 12/34 (p = 0.04)]. Conclusions Venepuncture is a painful procedure in newborn and young infants. The implementation of behavioral strategies in association with oral sucrose may mitigate pain during this procedure. Clinical Trial Registration This trial was registered at http//clinicaltrials.gov/ (NCT number 02803723).Acute liver failure (ALF) in childhood is a rapidly progressive, potentially life-threatening condition that occurs in previously healthy children of all ages. However, the etiology of ~50% of cases with pediatric ALF remains unknown. We herein report a 4-year-old Chinese girl with recurrent ALF (RALF) due to a mutation in the neuroblastoma amplified sequence (NBAS) gene. The patient had suffered from multiple episodes of fever-related ALF since early childhood. She had also suffered from acute kidney injury, hypertension, mild pulmonary hypertension, pleural effusion, and hypothyroidism. A novel compound heterozygote mutation, c.3596G> A (p.C1199Y)/ex.9del (p.216-248del), in the NBAS gene was identified by whole-exome sequencing (WES). The missense mutation c.3596G> A (p. C1199Y) was inherited from her father, and ex.9del (p.216-248del) was inherited from her mother. MF-438 order The patient was managed with intensive treatments, such as renal replacement therapy (CRRT), intravenous antibiotics, and glucose infusion, and was discharged after full recovery. We identified a novel compound heterozygote mutation in the NBAS gene that caused fever-related RALF in a Chinese child, which further expands the mutational spectrum of NBAS.The objective of this study was to determine whether adolescents with attention-deficit/hyperactivity disorder (ADHD) have prolonged return to school and sports following concussion compared to those without ADHD and whether medication status or concussion history is associated with recovery time. We hypothesized that having ADHD would not be associated with longer recovery time. This prospective observational cohort study, conducted between 2014 and 2019, examined concussion recovery among school sponsored athletics throughout Maine, USA. The sample included 623 adolescents, aged 14-19 years (mean = 16.3, standard deviation = 1.3 years), 43.8% girls, and 90 (14.4%) reported having ADHD. Concussions were identified by certified athletic trainers. We computed days to return to school (full time without accommodations) and days to return to sports (completed return to play protocol) following concussion. Adolescents with ADHD [median days = 7, interquartile range (IQR) = 3-13, range = 0-45] did not take longer than those without ADHD (median days = 7, IQR = 3-13, range = 0-231) to return to school (U = 22,642.0, p = 0.81, r = 0.01; log rank χ 1 2 = 0.059, p = 0.81). Adolescents with ADHD (median days = 14, IQR = 10-20, range = 2-80) did not take longer than those without ADHD (median days = 15, IQR = 10-21, range = 1-210) to return to sports (U = 20,295.0, p = 0.38, r = 0.04; log rank χ 1 2 = 0.511, p = 0.48). Medication status and concussion history were not associated with longer recovery times. Adolescents with ADHD did not take longer to functionally recover following concussion. Recovery times did not differ based on whether adolescents with ADHD reported taking medication to treat their ADHD or whether they reported a prior history of concussion.
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