Pediatric Investigation最新文献

Introduction: Lymphatic malformations (LMs) are rare vascular anomalies predominantly affecting infants, which can be debilitating or life-threatening when complicated with intralesional bleeding or infection. Effective and safe management strategies are essential in such cases.

Case presentation: We report a case series involving four Chinese neonates with life-threatening LMs, initially treated with oral sirolimus. All patients achieved rapid relief and sustained remission, using a lower sirolimus dosage than previously recommended. Furthermore, adverse events were rarely recorded during follow-up.

Conclusion: Sirolimus can be considered a promising choice for neonates with intricate and life-threatening LMs. Initiation with a reduced sirolimus dose is advisable.

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: 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 (C_max) 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 C_max 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 C_max 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.

Infantile hemangiomas are the most common benign vascular tumors in children. They present a characteristic natural history of spontaneous involution after a phase of initial proliferation. A small but significant minority demonstrates incomplete regression or complications and requires prompt intervention. Prediction of the evolution of infantile hemangiomas is challenging because of their morphological and behavioral heterogeneity. The decision between referral for treatment and observation is sometimes difficult, especially among non-expert physicians, with the risk of missing the period for optimizing outcomes in case of delayed intervention. The aim of this review is to update our knowledge, especially of the primary care providers, regarding the ongoing difficulties of the early clinical evaluation of infantile hemangiomas, and to outline the importance of current practical scoring tools for the identification of the lesions which require expert consultation and referral.