A deep-learning pipeline to diagnose pediatric intussusception and assess severity during ultrasound scanning: a multicenter retrospective-prospective study.

Ileocolic intussusception is one of the common acute abdomens in children and is first diagnosed urgently using ultrasound. Manual diagnosis requires extensive experience and skill, and identifying surgical indications in assessing the disease severity is more challenging. We aimed to develop a real-time lesion visualization deep-learning pipeline to solve this problem. This multicenter retrospective-prospective study used 14,085 images in 8736 consecutive patients (median age, eight months) with ileocolic intussusception who underwent ultrasound at six hospitals to train, validate, and test the deep-learning pipeline. Subsequently, the algorithm was validated in an internal image test set and an external video dataset. Furthermore, the performances of junior, intermediate, senior, and junior sonographers with AI-assistance were prospectively compared in 242 volunteers using the DeLong test. This tool recognized 1,086 images with three ileocolic intussusception signs with an average of the area under the receiver operating characteristic curve (average-AUC) of 0.972. It diagnosed 184 patients with no intussusception, nonsurgical intussusception, and surgical intussusception in 184 ultrasound videos with an average-AUC of 0.956. In the prospective pilot study using 242 volunteers, junior sonographers' performances were significantly improved with AI-assistance (average-AUC: 0.966 vs. 0.857, P < 0.001; median scanning-time: 9.46 min vs. 3.66 min, P < 0.001), which were comparable to those of senior sonographers (average-AUC: 0.966 vs. 0.973, P = 0.600). Thus, here, we report that the deep-learning pipeline that guides lesions in real-time and is interpretable during ultrasound scanning could assist sonographers in improving the accuracy and efficiency of diagnosing intussusception and identifying surgical indications.

Alagille syndrome due to a de novo NOTCH2 mutation presenting as prenatal oligohydramnios and congenital bilateral renal hypodysplasia: A case report.

Introduction: Here, we report the case of an infant suffering from Alagille syndrome (ALGS), manifesting with the atypical clinical manifestations of prenatal oligohydramnios and renal lesions. To the best of our knowledge, this is the first case of ALGS presenting as prenatal oligohydramnios and renal lesions caused by a de novo variant of the NOTCH2 gene. Case presentation: A 3-month-old male infant was hospitalized for severe malnutrition. He presented with prenatal oligohydramnios from 28+4 weeks of gestation. After birth, he failed to thrive and suffered from impaired motor development, thermoregulation disorders, congenital bilateral renal hypodysplasia, which initially manifested as stage 5 before improving to stage 3 chronic renal impairment, slightly elevated levels of transaminases, cholestasis, and dysmorphic facial features. We used a diagnostic screening panel of 4,047 pathogenic genes and whole exome sequencing (WES) to analyze the proband and his parents (who had normal kidneys). We found that the proband carried a de novo heterozygous splicing variant (c.5930-2A > G) in intron 33 of the NOTCH2 gene. Transcriptome sequencing confirmed that the mutation of this gene site would affect the splicing of NOTCH2 mRNA and lead to exon 33 skipping. Conclusions: Our case expands the spectrum of pathogenic variants of the NOTCH2 gene that are known to be associated with ALGS and characterized by prenatal oligohydramnios and renal lesions. It also reminds us of the necessity to monitor the liver and kidney function of the infant if a mother has oligohydramnios during pregnancy and we recommend ALGS as an additional differential diagnosis in prenatal renal abnormalities.

A Technique to Reduce the Early Recurrence of Intussusception in Ultrasound-Guided Hydrostatic Reduction.

OBJECTIVES: Ultrasound-guided saline enema is highly successful in treating pediatric intussusception; however, early recurrence-within 48 hours-is possible. This study aimed to explore effective methods of reducing early recurrence. METHODS: This study included patients aged 0 to 14 years diagnosed with ileocolic intussusception with a symptom duration of <48 hours from January 2019 to March 2021. The patients were divided into control and intervention groups. All patients received successful treatment with ultrasound-guided saline enema; however, in patients treated before January 4, 2020 (control group), the intestinal fluid was drained immediately, and in patients treated after January 4, 2020 (intervention group), the intestinal fluid was drained after 15 minutes of intestinal pressure maintenance. Early recurrence rates of the groups were compared. RESULTS: Ileocolic intussusception was treated successfully by ultrasound-guided saline enema in 231 patients (116, control group;115, intervention group). The early recurrence rate in the intervention group (10%; 95% CI: 4.9-16.5) was numerically lower than that in the control group (19%; 95% CI: 12.3-27.3). No significant difference was observed in the number of recurrences per person between the groups (P = .448). Patients without early recurrence were older (P = .004) and received enemas of a shorter duration (P < .001) and lower pressure (P < .001) than patients without early recurrence. CONCLUSIONS: Maintaining reduction pressure for 15 minutes after a successful ultrasound-guided saline enema may reduce the early recurrence of intussusception. A randomized controlled trial is needed because the intervention and control cohorts were most probably incomparable (due to the COVID-19 pandemic).

Case Report: Ultrasound-Guided Percutaneous Microwave Ablation of Focal Nodular Hyperplasia in a 9-Year-Old Girl.

Focal nodular hyperplasia (FNH) is a rare benign tumor-like space-occupying lesion of the liver that is especially rare in children. Since there have been no reports of malignant progression of this disease and these lesions remain unchanged for a long period of time or even disappear in some cases, it remains controversial whether clinical treatment is needed. However, if the diagnosis is unclear, the patient has symptoms or the lesion becomes enlarged during follow-up, clinical treatment should be considered. Here, we report the first case of FNH near the gallbladder treated by ultrasound-guided percutaneous microwave ablation (MWA) in a 9-year-old girl.

Use of Neonatal Lung Ultrasound for the Early Detection of Pneumothorax.

OBJECTIVE: Pneumothorax (PTX) can be diagnosed using lung ultrasonography (LUS) in adult patients, but there are only a few reports of LUS in PTX diagnosis in neonates. The aim of the study was to assess the diagnostic accuracy for PTX. STUDY DESIGN: This was a retrospective review study performed in our neonatal intensive care unit (level III) between June 2015 and June 2018. All eligible patients underwent an LUS scan before undergoing a chest X-ray (CXR), which was considered the reference standard. When a diagnosis of PTX was inconsistent between LUS and CXR, a chest computed tomography (CT) scan or chest drain was considered the gold standard. RESULTS: Among 86 infants included in the study, 30 (34.9%) were diagnosed with PTX. In these 30 infants, 35 PTXs were detected by bedside LUS (five bilateral PTXs). Moreover, 11 infants with 14 PTXs were diagnosed only by LUS and were missed by CXR. Out of these 11 infants, 7 underwent a CT scan, whereas the remaining 4 underwent thoracentesis that confirmed PTX diagnosis. CONCLUSION: In neonates with PTX, LUS was more sensitive and specific for the early detection of PTX compared with CXR.