Perinatal management for fetal oral epignathus with duplication of the pituitary gland (DPG)-plus syndrome: A case report and literature review.

The prenatal diagnosis of epignathus presents a unique challenge for physicians. Differential diagnosis is usually based on the anatomic location of the tumor. Typical prenatal ultrasound characteristics of epignathus include a mixed solid and cystic lesion with vascularity in the solid component, originating from the hard or soft palate, and it is often associated with other anomalies such as craniofacial clefts or trans-sphenoidal intracranial extension. Herein, we present a case of prenatal diagnosis of epignathus with rare ultrasonographic findings, prenatal management requiring collaborative efforts of a multidisciplinary team, and a well-planned innovative ex utero intrapartum treatment procedure. In addition, this report highlights the evolving postnatal diagnosis of the rare developmental anomaly, duplication of the pituitary gland-plus syndrome, which includes various midline craniofacial, central nervous system, spinal, and endocrine abnormalities.

Clinical characteristics associated with pediatric traumatic intracranial hemorrhage.

PURPOSE: Traumatic brain injury (TBI) can cause significant morbidity and mortality in the pediatric population. Brain CT is the mainstay in the diagnosis of intracranial hemorrhage (ICH). The aim of this study was to explore the clinical characteristics that can predict ICH on brain CT in pediatric TBI patients, to assist physicians in deciding on the use of brain CT. METHODS: A total of 475 pediatric TBI patients who underwent brain CT within 24 h after injury from January 2012 to December 2021 in the level 1 trauma center in Thailand were included in this cross-sectional study. Clinical data and brain CT findings were collected. Logistic regression analysis was applied to evaluate clinical characteristics that could predict ICH on brain CT in pediatric TBI patients. A p value was less than 0.05 being indicated that the difference is statistically significant. R software version 3.6.1 was used to statistical analysis. RESULTS: The mean age of included cases was 7.7 years (interquartile range (IQR) 3.5 - 12.6 years). ICH was found in 98 (20.63%) pediatric patients based on brain CT findings. On multivariable analysis, high blunt energy injury (odds ratio (OR) = 2.79, 95% CI 1.27 - 6.11, p = 0.010), motor vehicle accidents (OR = 2.04, 95% CI: 1.14 - 3.67, p = 0.017), Glasgow coma scale score <13 (OR = 4.28, 95% CI: 1.87 - 9.78, p < 0.001), palpable skull fractures (OR = 7.30, 95% CI: 1.44 - 37.04, p = 0.016), signs of basilar skull fracture (OR = 6.10, 95% CI: 2.16 - 17.24, p < 0.001), and vomiting ≥ 3 times (OR = 2.60, 95% CI: 1.17 - 5.77, p = 0.022) were statistically significant predictive factors for ICH in pediatric TBI patients. CONCLUSION: These factors might aid clinicians in making an appropriate decision regarding the use of brain CT in pediatric TBI cases.

Cranial ultrasound performance assessment tool: development and validation.

AIM: A standard assessment tool for direct evaluation of procedural skills to ensure proficiency of trainees is necessary for cranial ultrasound (US) in clinical practice. This study created and validated an assessment tool for cranial US performance by radiologists. MATERIAL AND METHODS: An initial evaluation tool for cranial US using criteria was developed based on existing literature. The assessment form was modified using a three-round Delphi process by an expert panel, conducted between January 2021 and April 2021. Rubric scales for grading were added once consensus regarding generated items was reached. Experts confirmed the final assessment tool using a rubric scale. Two raters evaluated cranial US performance of 27 residents in video clips using the tool. Reliability and percent agreement were assessed. RESULTS: Seventeen pediatric radiologists working in different settings participated in the expert panel. The content validation of the proposed evaluation tool was enabled by expert pediatric radiologists. Following three rounds of the Delphi process, the initial 14-item assessment form became a final 15-item form. A three-part rubric scale was used in the final form (preparation, US machine operation, and cranial US performance). Interrater reliability was evaluated with Cohen's Kappa. The Kappa value and percent interrater agreement for most items was moderate to almost perfect (0.42-0.93 and 77.8-100%, respectively). The Cronbach's alpha values for both raters were 0.856 and 0.891. CONCLUSIONS: This study produced the first validated cranial US assessment tool using a modified Delphi method. The final assessment form is a simple and reliable tool.

Juvenile Hyaline Fibromatosis: Report of a Case with a Novel ANTXR2 Gene Mutation.

BACKGROUND Juvenile hyaline fibromatosis is a rare autosomal recessive disorder with unknown prevalence characterized by abnormal development of hyalinized fibrous tissue usually in the skin, mucosa, bone, and often the internal organs. Here, we report the case of a 7-year-old girl from a family with ANTXR2 mutation confirming JHF. CASE REPORT The girl presented with multiple painless soft-tissue swellings affecting the ears, forehead, and scalp. Excisional biopsies of the masses reported positive immunohistochemical staining for collagen type VI in the extracellular matrix area, which indicated collagen VI accumulation. Genetic analysis was performed using whole-exome sequencing. The variants were further validated using Sanger sequencing in trio-based approach. We identified a novel mutation, c.1273_1293delinsTCTTGTGGGTTTGGCT in exon 15 of ANTXR2 gene, leading to a frameshift of the amino acid from codon 425 to all the rest of the amino acid chain (p.Pro425Serfs). The change of an encoded protein interrupted lysosome-mediated degradation of collagen VI. This finding was compatible with her parents whose genetic tests were both positive for the same heterogenous deletion/insertion mutation. The patient was treated with surgical excision of the tumor masses, which had to be repeated several times due to recurrences. CONCLUSIONS This novel mutation in exon 15 of the ANTXR2 gene may help improve understanding of genotype-phenotype correlations for this syndrome and provide the basis for diagnostic testing. A multidisciplinary team approach including genetic molecular testing is required for an accurate diagnosis and management of JHF for conducting genetic counseling for affected families as a part of holistic management.

Outcomes and risk factors of ventilator-associated pneumonia in neonates.

BACKGROUND: Ventilator-associated pneumonia (VAP) in neonates has been associated with high mortality and poor outcome. This study aimed to compare the incidence, risk factors, and outcomes of VAP and non- VAP conditions in neonates. METHODS: We performed a prospective cohort study in a neonatal intensive care unit (NICU) in Thailand from January 2014 to December 2014. All neonatal patients who were ventilated more than 48 hours were enrolled. RESULTS: There were 128 enrolled patients. The median (inter quartile range) gestational age and birthweight were 35 (30.2, 37.8) weeks and 2380 (1323.8, 3020.0) g. There were 17 VAP patients (19 episodes) and 111 non-VAP ones. The VAP rate was 13.3% or 10.1 per 1000 ventilator days. According to the multivariate analysis, a birthweight less than 750 g [adjusted odds ratio (aOR)=10.75, 95% confidence interval (CI)=2.35-49.16; P=0.002] and sedative medication use (aOR=4.00, 95% CI=1.23-12.50; P=0.021) were independent risk factors for VAP. Compared with the non-VAP group, the median difference in the VAP group yielded a significantly longer duration of NICU stay (18 days, P=0.001), total length of hospital stay (16 days, P=0.002) and higher hospital costs ($5113, P=0.001). The inhospital mortality rate in the VAP and non-VAP groups was 17.6% and 15.3% (P=0.73), respectively. CONCLUSIONS: A neonatal birthweight less than 750 g and sedative medication use were independent risk factors for VAP. Our VAP patients experienced a longer duration of both NICU and hospital stay, and incurred higher hospitalization costs.

Risk factors and outcomes of carbapenem-resistant Acinetobacter baumannii ventilator-associated pneumonia in the neonate: A case-case-control study.

BACKGROUND: Carbapenem-resistant and susceptible Acinetobacter baumannii (CRAB and CSAB) have emerged as serious threats among critically ill neonates. We aimed to identify the risks and outcomes for CRAB and CSAB ventilator-associated pneumonia (VAP) compared with a control group. METHODS: We performed a retrospective and case-case-control study in a neonatal intensive care unit between 2009 and 2014. RESULTS: The numbers of patients in the CRAB VAP, CSAB VAP, and control groups were 63, 13, and 25, respectively. The mean gestational ages and median birthweights of CRAB VAP, CSAB VAP, and control groups were 33.2, 35.0, and 32.6 weeks and 1800, 2230, and 2245 g, respectively. By multivariate analysis, infants who had a birthweight of 1000-1499 g (P = 0.04), cesarean section (P = 0.01), history of cephalosporin use (P = 0.02), and surfactant replacement (P = 0.01) in CRAB VAP were significantly higher than in the control group. Inborn infant (P = 0.01), reintubation (P = 0.04), and umbilical artery catheterization (P = 0.04) in the CRAB VAP group were significantly more than in the CSAB VAP group. The crude mortality rates (CMRs) of CRAB VAP and CSAB VAP were 15.9% and 7.7%, respectively. By univariate analysis, the CMR, septic shock, and bronchopulmonary dysplasia in CRAB VAP were higher than in the control group. CONCLUSIONS: There are very high mortality and short-term morbidity rates in CRAB VAP. Surfactant replacement therapy, fewer cesarean sections, and the reduced use of cephalosporin in very preterm infants may reduce CRAB VAP.