Background: The clinical use of gentamicin always lies in its antimicrobial activity in the past as an aminoglycoside antibiotic. However, in the past decade, there were considerable interests in therapeutic approaches in treating hereditary diseases. Some of the genodermatosis is caused by nonsense mutations that create premature termination codons and lead to the production of truncated or non-functional proteins. Gentamicin could induce readthrough of nonsense mutations and enable the synthesis of full-length proteins. We focus on previous publications on topical application of gentamicin and review its utility in genetic skin diseases.

Data sources: We search the MEDLINE through PubMed, EMBASE databases, and the Clinical Trials Registry Platform from January 1960 to July 2020 using the key search terms "gentamicin, topical gentamicin, genodermatosis, genetic skin diseases".

Results: The application of gentamicin in genodermatosis yielded promising results, both in vivo and in vitro, including Nagashima-type palmoplantar keratosis, epidermolysis bullosa, Hailey-Hailey disease, hereditary hypotrichosis simplex of the scalp, etc. CONCLUSIONS: Topical gentamicin is a potential treatment option for genodermatosis caused by nonsense mutation.

Background: This study aimed to develop an expert consensus regarding the epidemiology, diagnosis, and management of cow's milk protein allergy (CMPA) in the Middle East.

Methods: A three-step modified Delphi method was utilized to develop the consensus. Fifteen specialized pediatricians participated in the development of this consensus. Each statement was considered a consensus if it achieved an agreement level of ≥ 80%.

Results: The experts agreed that the double-blind placebo-controlled oral challenge test (OCT) should be performed for 2-4 weeks using an amino acid formula (AAF) in formula-fed infants or children with suspected CMPA. Formula-fed infants with confirmed CMPA should be offered a therapeutic formula. The panel stated that an extensively hydrolyzed formula (eHF) is indicated in the absence of red flag signs. At the same time, the AAF is offered for infants with red flag signs, such as severe anaphylactic reactions. The panel agreed that infants on an eHF with resolved symptoms within 2-4 weeks should continue the eHF with particular attention to the growth and nutritional status. On the other hand, an AAF should be considered for infants with persistent symptoms; the AAF should be continued if the symptoms resolve within 2-4 weeks, with particular attention to the growth and nutritional status. In cases with no symptomatic improvements after the introduction of an AAF, other measures should be followed. The panel developed a management algorithm, which achieved an agreement level of 90.9%.

Background: A series of public health preventive measures has been widely implemented in Beijing to control the coronavirus disease-19 (COVID-19) pandemic since January 2020. An evaluation of the effects of these preventive measures on the spread of other respiratory viruses is necessary.

Methods: Respiratory specimens collected from children with acute respiratory infections were tested by NxTAG™ respiratory pathogen panel assays during January 2017 and December 2020. Specimens characterized as rhinoviruses (RVs) were sequenced to identify the RV species and types. Then, the epidemiology results of respiratory pathogens in 2020 were compared with those from 2017 to 2019 using SPSS statistics 22.0.

Results: The positive rates of adenovirus (ADV), influenza virus (flu), RVs, and respiratory syncytial virus (RSV) dropped abruptly by 86.31%, 94.67%, 94.59%, and 92.17%, respectively, from February to May 2020, compared with the average level in the same period during 2017-2019. Positive rates of RVs then steeply increased from June 2020 (13.77%), to an apex (37.25%) in August 2020, significantly higher than the average rates (22.51%) in August 2017-2019 (P = 0.005). The increase, especially in group ≥ 3 years, was accompanied by the reopening of schools and kindergartens after the 23rd and 24th week of 2020 in Beijing.

Background: We investigate the association between different muscle strength (MS) indices with cardiometabolic variables in adolescents.

Methods: Cross-sectional study comprising 351 adolescents (male 44.4%, age 16.6 ± 1.0 years) from Brazil. MS was assessed by handgrip strength and analyzed in five different ways: absolute MS and MS normalized for body weight, body mass index (BMI), height, and fat mass, respectively. Cardiometabolic variables investigated as outcomes were systolic and diastolic blood pressure (DBP), waist circumference (WC), high-sensitive C-reactive protein (hs-CRP), lipid and glucose metabolism markers. Multiple linear regression models adjusted for confounding factors were used.

Results: Absolute MS and/or MS normalized for height was directly associated with WC [up to 32.8 cm, standard error (SE) = 4.7] and DBP (up to 8.8 mmHg, SE = 0.8), and inversely associated with high-density lipoprotein cholesterol (up to -8.0 mg/dL, SE = 14.1). MS normalized for body weight, BMI or fat mass was inversely associated with WC (up to -17.5 cm, SE = 2.2). According to sex, MS normalized for fat mass was inversely associated with triglycerides (male: 0.02 times lower, SE = 0.01; female: 0.05 times lower, SE = 0.01) and homeostatic model assessment for insulin resistance (male: 0.02 times lower, SE = 0.01; female: 0.06 times lower, SE = 0.01), and inversely associated with hs-CRP only among male (0.03 times lower, SE = 0.01).

Background: Over the last two decades, umbilical cord blood (UCB) and haploidentical transplantation (HaploHSCT) have emerged as alternative sources of hematopoietic stem cell for allogeneic transplantation. There are few retrospective studies and no prospective studies comparing both types of alternative transplantation in pediatric patients.

Results: We analyzed the data of 134 children with hematological malignancies who received a hematopoietic stem cell transplantation from a single umbilical cord blood (UCB) (n = 42) or an "ex-vivo" T-cell depleted transplant from a haploidentical-related donor (HaploHSCT) (n = 92) between 1996 and 2014. Hematological recovery was faster after HaploHSCT than the UCB transplant group (median times to neutrophil and platelet recovery: 13 vs. 16 days, 10 vs. 57 days, respectively) (P < 0.001). The HaploHSCT group had a significantly early immune reconstitution based on NK and CD8+ T cells compared with the UCB group. However, after the first year post-transplantation, HaploHSCT had a lower number of CD4+ T and B lymphocytes compared with the UCB transplant recipients. The cumulative incidence of TRM was 29 ± 8% in the HaploHSCT group versus 40 ± 5% in the UCB group. Relapse incidence was 21 ± 7% in the HaploHSCT group and 19 ± 8% in the UCB group. Probability of DFS was 58 ± 8% in the HaploHSCT group versus 40 ± 9% in the UCB group (P = 0.051).

Background: There are limited studies comparing budesonide inhalation suspension (BIS) with montelukast in real-world settings where treatment adherence and persistency may be suboptimal. This real-world study aims to investigate the control effectiveness of montelukast or BIS as a monotherapy in Chinese children with mild asthma.

Methods: Data were derived from a retrospective questionnaire-based analysis of 2‒14-year-old children with mild persistent asthma, who received either 500 µg of BIS (n = 153) or 4‒5 mg of montelukast (n = 240) once daily. The indicators of asthma control, the Asthma Control Test (ACT)/Childhood ACT (C-ACT) score, and the asthma-related medical costs were assessed. The differences between the two groups were compared using an unpaired t-test (normally distributed), Mann–Whitney U test (non-normally distributed) or chi-squared test (categorical variables).

Results: Medication compliance in the past 3-month period was better in the montelukast group than in the BIS group (P = 0.042). The montelukast group exhibited better asthma control in the past 4-week period, including lower percentages of asthmatic children with symptoms more than twice a week (P = 0.021), had night waking or night coughing (P = 0.022), or required reliever medication more than twice a week (P<0.001). The montelukast group had a lower percentage of children with an ACT/C-ACT score≤19 (P=0.015). Caregivers reported a signifcantly better exercise tolerance in the children who received montelukast vs. BIS in the past 12 months (P><0.001). Signifcantly higher medical expenditures attributable to asthma in the past 12 months were observed in the BIS group vs. montelukast group (P> < 0.001). The montelukast group had a lower percentage of children with an ACT/C-ACT score ≤ 19 (P = 0.015). Caregivers reported a significantly better exercise tolerance in the children who received montelukast vs. BIS in the past 12 months (P<0.001). Signifcantly higher medical expenditures attributable to asthma in the past 12 months were observed in the BIS group vs. montelukast group (P> < 0.001).

Background: This study aimed to evaluate the feasibility and clinical effect of haploidentical hematopoietic stem cell transplantation (haplo-HSCT) for the treatment of pediatric patients with chronic active Epstein–Barr virus infection (CAEBV).

Methods: Children with CAEBV who did not have matched donors and underwent haplo-HSCT in Beijing Children’s Hospital, Capital Medical University, from October 2016 to June 2020 were analyzed retrospectively. Data relating to the clinical manifestations, engraftment, and prognosis of the children were extracted from medical records.

Results: Twenty-five patients, including 16 males and 9 females, with an onset age of 5.0 ± 2.6 years and a transplantation age of 6.9 ± 2.9 years, were enrolled in this study. The mean time from diagnosis to transplantation was 3.8 (2.0–40.2) months. The mean observation time was 19.0 ± 12.0 months. Three patients received the reduced intensity conditioning regimen, and the remaining patients all received the modified myeloablative conditioning regimen. By the end of the follow-up, 23 patients were characterized by disease-free survival (DFS), 22 were characterized by event-free survival (EFS), and two died. One of the patients died of thrombotic microangiopathy (TMA), and another died of graft versus host disease (GVHD); this patient discontinued the treatment for economic reasons. The 3-year overall survival (OS) rate was estimated to be 92.0% ± 5.4%, and the 3-year EFS rate was estimated to be 87.4% ± 6.8%. All active patients survived after HSCT event-free. Acute GVHD degrees 1–3 were observed in ten patients (40.0%), and degree IV was observed in six (24.0%), who were all cured except for one patient. Chronic GVHD was observed in nine (36.0%), and most of these cases were mild. The incidence of TMA and veno-occlusive disease (VOD) was 28.0% and 4.0%.

Background: This study aimed to evaluate the relationship between vestibular and auditory functions in pediatric patients with sudden sensorineural hearing loss (SSHL).

Methods: A total of 30 pediatric patients experiencing unilateral SSHL between 5.9 and 13.0 years of age were enrolled in this study. Pure tone audiometry was evaluated prior to treatment initiation and again after one month of treatment. Prior to treatment initiation, vertigo symptoms were noted; then several vestibular function tests were conducted including caloric testing, ocular vestibular evoked myogenic potentials (o-VEMPs) and cervical vestibular evoked myogenic potentials (c-VEMPs). Associations between pre and post-treatment vestibular function and hearing threshold levels were analyzed.

Results: Initial hearing thresholds of children with vertigo were higher than thresholds of children without vertigo (92 dB vs. 79 dB, P = 0.033), while initial hearing thresholds of children with abnormal caloric test findings were higher than thresholds of children with normal caloric test findings (93 dB vs. 67 dB, P = 0.014). Cutoff values of hearing thresholds for those with vertigo symptoms and abnormal vestibular test results were 86.000- and 89.583-dB HL, respectively. Regarding prognosis, children with vertigo exhibited lower recovery rates than children without vertigo (33% vs. 75%, P = 0.025); recovery rates of children with abnormal caloric test results were lower than the overall recovery rate (25% vs. 73%, respectively, P = 0.039).

Background: To improve compliance with voiding diaries in children with primary monosymptomatic nocturnal enuresis (PMNE), a new modified 3-day weekend frequency–volume chart (FVC) was designed, and the compliance and validity of this modified FVC was evaluated by comparing with the International Children's Continence Society (ICCS) recommended voiding diary.

Methods: A total of 1200 patients with PMNE were enrolled in the study from 13 centers in China and were randomly assigned to record this modified FVC or the ICCS-recommended voiding diary. The primary outcome measure was the compliance, assessed by comparing the completing index and the quality score of diaries between two groups. The secondary outcome measure was the validity, evaluated by comparing the constituent of subtypes, micturition parameters and response rate to desmopressin.

Results: Among the 1200 participants enrolled in the study, 447 patients completed the ICCS-recommended voiding diary and 469 completed the modified diary. The diurnal completing index and the quality score of the modified FVC group were better than those of the ICCS group. In addition, there was no significant difference between these two groups in the subtype classification, or in the response rate to desmopressin.

Background: Fragile X syndrome (FXS), caused by CGG-repeat expansion in FMR1 promoter, is one of the most common causes of mental retardation. Individuals with full mutation and premutation alleles have a high risk of psychophysiological disorder and of having affected off spring. Frequencies of FMR1 alleles in general newborns have been reported in Caucasians but have not been investigated in the large-scale population in the mainland of China.

Methods: The sizes of FMR1 CGG-repeats were analyzed in 51,661 newborns (28,114 males and 23,547 females) and also in a cohort of 33 children diagnosed with developmental delay using GC-rich polymerase chain reaction (PCR) and triple repeat primed PCR.

Results: The frequency of CGG repeats > 100 was 1/9371 in males and 1/5887 in females, and the frequency of CGG repeats > 54 was 1/1561 in males and 1/1624 in females. FMR1 full mutation and premutation were identified in 27.27% of children who had Ages and Stages Questionnaire scores less than two standard deviations from the cutoff value.

Background: The aim of this study was to explore the associations between the aspartate aminotransferase-to-alanine aminotransferase ratio (AST/ALT) and coronary artery lesions (CALs) among patients with Kawasaki disease (KD).

Methods: Medical records of KD patients presenting to a single center between January 2019 and December 2020 were retrospectively collected and analyzed. Univariate, multivariable-adjusted analyses, subgroup analyses, restricted cubic spline test, and fitted curves were used to evaluate the associations between AST/ALT and CALs.

Results: A total of 831 patients were enrolled, of which 201 (24.2%) had CALs on admission and 21 (2.5%) developed CALs de novo after intravenous immunoglobulin (IVIG). Multivariable-adjusted analyses models revealed that a lower AST/ALT was associated with an increased risk of CALs on admission when AST/ALT was a continuous variable (P = 0.007) and when it was a categorical variable (P for trend = 0.004). Each unit increase in AST/ALT was associated with a 22% lower risk of CALs on admission (odds ratio = 0.78, 95% confidence interval 0.65-0.94). A negative linear relationship was noted between AST/ALT and the risk of CALs on admission in both observed and fitted models. However, such associations were not observed in AST/ALT and CALs de novo after IVIG. None of the variables significantly modified the association between AST/ALT and CALs on admission and CALs de novo after IVIG (P > 0.05).