Importance: Nutritional status of infants, measured by birth weight and length, is an essential factor in neonatal development. Malnutrition in newborns may lead to a higher risk of mortality, neurological and cognitive impairment, and poor language development.
Objective: This study aims to assess the nutritional status of infants and related factors regarding maternal anthropometric characteristics and medical history.
Methods: A cross-sectional study was conducted at the National Hospital of Obstetrics and Gynecology, Vietnam from May 2021 to May 2022 on 340 infants and mothers. Low birth weight was defined following the Intergrowth-21 standards. Stunting was evaluated using the Fenton growth chart when the length was below the 10% percentile line of the gestational week. Multivariate regression models were applied to identify factors associated with the nutritional status of infants.
Results: We found that 12.4% and 14.1% of infants in our study fell into stunted and underweight categories, respectively. Infants of mothers over 35 years old, having a height lower than 150 cm or experiencing anemia during pregnancy were more likely to be stunted or have low birth weight. Serum albumin deficiency during pregnancy was strongly associated with the infant being underweight (odds ratio [OR] = 2.8, 95% confidence interval [95%CI] 1.1-7.3). Newborns were more likely to be stunted if their mothers had a history of preterm birth (OR = 3.3, 95%CI 1.1-10.2).
Interpretation: Maternal nutritional status is closely related to infant malnutrition, particularly in preterm infants. Improving the understanding of mothers regarding prenatal care, reproductive healthcare, adequate nutritional diet, and multi-micronutrient supplements during pregnancy is therefore important.
Importance: Keratinopathic ichthyosis (KPI) represents a group of predominantly autosomal dominant genodermatoses resulting from mutations in the KRT1, KRT2, or KRT10 genes. In KPI, the relationship between genotype and phenotype is complex.
Objective: To analyze the clinical manifestations and gene mutations in Chinese patients with KPI.
Methods: Clinical data were collected from 13 children diagnosed with KPI, and peripheral blood DNA samples were extracted from both the patients and their parents Next-generation sequencing was performed using a congenital ichthyosis multi-gene panel, and the selected variants in the patients and their parents were further validated using the Sanger sequencing method.
Results: Genetic analysis identified missense mutations in either KRT1 or KRT10 in ten patients exhibiting varying degrees of severity and distinct features of epidermolytic ichthyosis. A missense hotspot mutation in KRT2 was identified in one patient with superficial epidermolytic ichthyosis. Additionally, two truncation mutations in KRT10 were detected, leading to the development of generalized ichthyosiform erythroderma. Ear malformation and ectropion at birth, scalp involvement, and palmoplantar hyperkeratosis were observed as early signs of ichthyosis with confetti.
Interpretation: We analyzed the genotype-phenotype correlations in KPI, revealing that the types and locations of different mutations are associated with distinct phenotypic characteristics. Oral acitretin could be considered a treatment option for severe patients at an appropriate dosage and timing.
Importance: Nagashima-type palmoplantar keratosis (NPPK) is a hereditary dermatosis mostly caused by a nonsense mutation in SERPINB7. Despite the increasing interest in readthrough gentamicin treatment of NPPK, clinical evidence for this treatment is limited.
Objective: This study aimed to provide further evidence for the use of topical gentamicin in the treatment of NPPK in children with nonsense mutations.
Methods: We designed a bilaterally controlled study of topical gentamicin ointment. Children diagnosed with NPPK carrying nonsense mutations were enrolled in this study. A 0.1% gentamicin ointment was applied to one hand and an emollient to the other for 3 months. A bilateral comparison of the visual analog scale scores for clinical manifestations and safety was performed.
Results: Ten children with NPPK were included in this study. In comparison with the emollient side, the topical gentamicin side showed significant improvements in hyperkeratosis, erythema, maceration, and desquamation after 1 and 3 months of treatment (P < 0.05). However, hyperhidrosis and odor did not improve significantly. No adverse events were observed during the systemic safety monitoring examinations.
Interpretation: Topical gentamicin ointment showed good safety in the treatment of NPPK with nonsense mutations, indicating that it is a promising therapeutic choice in children with NPPK.
Importance: Reported coronavirus disease 2019 (COVID-19) pandemic effects on pediatric trauma have been variable.
Objective: We investigated the characteristics of pediatric trauma including alcohol use during the pandemic at our urban trauma center.
Methods: The trauma database of our adult level 1 trauma center was queried for all pediatric (age ≤ 18 years) patients presenting between March 1, 2020, and October 30, 2020. Data from 2017 to 2019 served as a control. Variables analyzed included demographics, mechanisms, injury severity, hospitalization characteristics, and positive blood alcohol.
Results: Pandemic pediatric trauma volumes increased by 67.5% (330/year vs. 197/year). Pandemic patients were younger (median age 13 vs. 14 years, P = 0.011), but similar in gender, ethnicity, severity, hospital length of stay, mortality, and rates of penetrating injury. Falls doubled (79/year vs. 34/year) and shifted away from high falls >6 meters (0% vs. 7.9%) to moderate falls 1-6 meters (58.2% vs. 51.5%) (P = 0.028). Transportation injury rates were similar however mechanisms shifted from motor vehicle crashes (-13.5%) towards recreational vehicles including motorcycles (+2.1%), all-terrain vehicles (+8.6%), and bicycles (+3.8%) (P = 0.018). Pediatric-positive blood alcohol was significantly higher (11.2% vs. 5.1%, P < 0.001), especially for ages 14-18 years (21.7% vs. 9.5%, P < 0.001).
Interpretation: Pediatric trauma volumes during the COVID-19 pandemic increased. Pandemic patients had more recreational vehicle injuries and higher rates of positive blood alcohol. This suggests an increased need for alcohol assessment and targeted interventions in the pediatric population during pandemics or periods of school closures.
Introduction: Hypersalivation has been associated with Rolandic epilepsy and other childhood epilepsy syndromes. However, pure salivatory seizures are a rare type of focal seizure in which ictal hypersalivation is the dominant feature throughout the seizures.
Case presentation: We present a case of pure salivatory seizures originating from the right post-central operculum cortex, confirmed by the favorable surgical outcome. We attempt to analyze the symptom from behavioral and neural network perspectives and propose a possible mechanism to generate ictal hypersalivation and pure salivatory seizures.
Conclusion: Based on previous reports in the literature and our case, we emphasize the importance of the operculum in patients with ictal hypersalivation, particularly in patients with pure salivatory seizures.
Importance: Body fluid dynamics and renal maturation status vary during the neonatal period. We hypothesized that differences in peak and trough gentamicin concentrations could be expected.
Objective: To predict the peak and trough gentamicin concentrations in critically ill neonates and to predict the changes in the predicted peak plasma concentrations of gentamicin following fat-free mass dosing.
Methods: Critically ill neonates that received gentamicin and have gentamicin concentration measured were recruited. Fat mass was estimated using skinfold thicknesses. Changes in the peak plasma concentrations (Cmax) using whole-body weight (estimated using the current dosing regimen) and predicted concentrations following the fat-free mass-based dosing were the outcome measures.
Results: Eighty-nine critically ill neonates were recruited. Sub-therapeutic Cmax was estimated using the current dosing regimen in 32.6%, and 22.5% neonates following the first and second doses of gentamicin. Preterm neonates had significantly higher fat mass compared to term neonates. All except one had Cmax above 12 μg/ml after the first dose and all had after the second gentamicin dose following the predicted fat-free mass-based gentamicin dosing. The recommended doses are as follows: extreme preterm: 7.95 mg/kg every 48 h; very preterm: 7.30 mg/kg every 36-48 h; late preterm: 5.90 mg/kg every 36-48 h; and term neonates at 5.10 mg/kg every 24 h.
Interpretation: Fat-free mass dosing may be considered for obtaining optimal therapeutic effects in the neonatal population.
Importance: Neonatal appendicitis (NA) is a rare and potentially fatal neonatal disease. However, misdiagnosis is common owing to atypical clinical manifestations and non-specific laboratory tests.
Objective: The aim of this study was to summarize the clinical characteristics, treatments, and prognoses of infants with NA.
Methods: This retrospective analysis included 69 patients diagnosed with NA admitted to Beijing Children's Hospital between 1980 and 2019. The patients were divided into surgical and non-surgical groups based on whether surgery was performed. Their clinical characteristics were analyzed using the chi-square test, t-test, or the Mann-Whitney U test.
Results: The study included 47 males and 22 females with NA. The primary symptoms were abdominal distension (n = 36, 52.2%), fever (n = 19, 27.5%), refusal to feed or decreased feeding (n = 16, 23.2%), and vomiting (n = 15, 21.7%). Sixty-five patients underwent abdominal ultrasound examinations; 43 had definite appendiceal abnormalities, 10 had right lower abdominal adhesive masses, and 14 had neonatal enterocolitis manifestations. Twenty-nine and 40 patients were in the surgical and non-surgical groups, respectively. No statistically significant differences were observed between the groups regarding sex, age at onset, birth weight, admission weight, or hospitalization time. However, parenteral nutrition was prolonged in the surgical group (P = 0.001). Additionally, two patients (2.9%) died.
Interpretation: NA is a rare neonatal disease with atypical clinical manifestations. Abdominal ultrasonography may aid in the diagnosis. Similarly, appropriate treatment can improve the prognosis.
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