Diarrhea Is a Hallmark of Inflammation in Pediatric COVID-19.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a pathogen with enteric tropism. We compared the clinical, biochemical and radiological features of children hospitalized for acute SARS-CoV-2 infection, classified in two groups based on the presence of diarrhea. Logistic regression analyses were used to investigate the variables associated with diarrhea. Overall, 407 children were included in the study (226 males, 55.5%, mean age 3.9 ± 5.0 years), of whom 77 (18.9%) presented with diarrhea, which was mild in most cases. Diarrhea prevalence was higher during the Alpha (23.6%) and Delta waves (21.9%), and in children aged 5-11 y (23.8%). Other gastrointestinal symptoms were most commonly reported in children with diarrhea (p < 0.05). Children with diarrhea showed an increased systemic inflammatory state (higher C-reactive protein, procalcitonin and ferritin levels, p < 0.005), higher local inflammation as judged by mesenteric fat hyperechogenicity (adjusted Odds Ratio 3.31, 95%CI 1.13-9.70) and a lower chance of previous immunosuppressive state (adjusted Odds Ratio 0.19, 95%CI 0.05-0.70). Diarrhea is a frequent feature of pediatric COVID-19 and is associated with increased systemic inflammation, which is related to the local mesenteric fat inflammatory response, confirming the implication of the gut not only in multisystem inflammatory syndrome but also in the acute phase of the infection.

Rare variants in PKHD1 associated with Caroli syndrome: Two case reports.

BACKGROUND: Caroli disease (CD, OMIM #600643) is a rare autosomal recessive disorder characterized by polycystic segmental dilatation of the intrahepatic bile ducts and extreme variability in age of onset and clinical manifestations. When congenital hepatic fibrosis is associated with the polycystic dilatation of the biliary tract, the condition is referred as Caroli syndrome. The disease is thought to be caused by pathogenic variants in the PKHD1 gene (OMIM *606702). METHOD: We report the clinical, biochemical, and molecular characterization of three patients with a clinical suspicion of CS belonging to two different families. The genetic screening was performed using a target custom panel and sequencing was performed on Illumina platform. RESULTS: Genetic analysis revealed the presence of rare variants in the PKHD1 gene of the analyzed patients. In the first case, and his younger sister, two pathogenic variants (c.2702A>C and c.4870C>T) were found to be associated with a hepatic phenotype at clinical onset, followed by renal disease probably age-related; while in the second case, one pathogenic variant (c.5879C>G) and a complex allele with uncertain clinical significance [c.3407A>G; c.8345G>C; c.8606C>A] were found to be associated with a severe hepatic phenotype. CONCLUSION: The identification of the genetic causes of the disease and their relationship with the clinical phenotype could have a favorable impact on clinical management and complication prevention.

Clinical value of radiomics and machine learning in breast ultrasound: a multicenter study for differential diagnosis of benign and malignant lesions.

OBJECTIVES: We aimed to assess the performance of radiomics and machine learning (ML) for classification of non-cystic benign and malignant breast lesions on ultrasound images, compare ML's accuracy with that of a breast radiologist, and verify if the radiologist's performance is improved by using ML. METHODS: Our retrospective study included patients from two institutions. A total of 135 lesions from Institution 1 were used to train and test the ML model with cross-validation. Radiomic features were extracted from manually annotated images and underwent a multistep feature selection process. Not reproducible, low variance, and highly intercorrelated features were removed from the dataset. Then, 66 lesions from Institution 2 were used as an external test set for ML and to assess the performance of a radiologist without and with the aid of ML, using McNemar's test. RESULTS: After feature selection, 10 of the 520 features extracted were employed to train a random forest algorithm. Its accuracy in the training set was 82% (standard deviation, SD, ± 6%), with an AUC of 0.90 (SD ± 0.06), while the performance on the test set was 82% (95% confidence intervals (CI) = 70-90%) with an AUC of 0.82 (95% CI = 0.70-0.93). It resulted in being significantly better than the baseline reference (p = 0.0098), but not different from the radiologist (79.4%, p = 0.815). The radiologist's performance improved when using ML (80.2%), but not significantly (p = 0.508). CONCLUSIONS: A radiomic analysis combined with ML showed promising results to differentiate benign from malignant breast lesions on ultrasound images. KEY POINTS: • Machine learning showed good accuracy in discriminating benign from malignant breast lesions • The machine learning classifier's performance was comparable to that of a breast radiologist • The radiologist's accuracy improved with machine learning, but not significantly.

An ileal duplication cyst case report: From diagnosis to treatment.

Enteric duplication cysts (EDCs) are rare congenital malformations of the children and can develop everywhere along the gastrointestinal (GI) tract, being the ileum the most frequent localization. We herein present an unusual case of duplication cyst of ileal origin who show a tubular morphology and doesn't communicate with GI lumen. A 2-month-old boy was admitted to our hospital for investigation of an anechoic formation of the lower right abdomen for the surgical planning. The patient was asymptomatic. Ultrasound (US) and magnetic resonance imaging (MRI) showed features of a cystic lesion. Laparoscopic surgery was performed and the cyst excised. Macroscopic examination and histologic findings confirmed the diagnosis of a enteric duplication cyst arising from the ileum. In a patient with an abdominal cystic mass, although asymptomatic, it's worth assessing the nature of the lesion and planning a surgery in order to avoid future complications. A correct use of diagnostic it's fundamental to identify the etiology and the characteristics of a cystic mass.

Tumor segmentation analysis at different post-contrast time points: A possible source of variability of quantitative DCE-MRI parameters in locally advanced breast cancer.

PURPOSE: to assess if tumor segmentation analysis performed at different post-contrast time points (TPs) on dynamic images could influence the extraction of dynamic contrast enhanced (DCE)-MRI parameters in locally advanced breast cancer (LABC), and potentially represent a source of variability. METHOD: forty patients with forty-two LABC lesions were prospectively enrolled and underwent breast DCE-MRI examination at 3 T. On post-processed dynamic images, enhancing tumor lesions were manually segmented at four different TPs: at the first post-contrast dynamic image in which the lesion was appreciable (TP 1) and at 1, 5 and 10 min after contrast-agent administration (TPs 2, 3 and 4, respectively) and corresponding DCE-MRI parameters were extracted. Friedman's test followed by Bonferroni-adjusted Wilcoxon signed rank test for post-hoc analysis was used to compare DCE-MRI parameters. Intra- and inter-observer reliability of DCE-MRI parameters measurements was assessed using the Intraclass Correlation Coefficient (ICC) analysis. RESULTS: Ktrans, Kep and iAUC were significantly higher when extracted from ROIs placed at TP1 and progressively decreased from TP 2-4. The intra-observer reliability ranged from good to excellent (ICC's: 0.894 to 0.990). The inter-observer reliability varied from moderate to excellent (0.770 to 0.942). The inter-observer reliability was significantly higher for Ktrans and Kep extracted at TPs1 and 2 as compared to TPs 3 and 4. CONCLUSIONS: A significant variability of DCE-MRI quantitative parameters occurs when tumor segmentation is performed at different TPs. We suggest to performing tumor delineation at an established TP, preferably the earliest, in order to extract reliable and comparable DCE-MRI data.

Atypical dermoid cyst of the ovary during pregnancy: A multi-modality diagnostic approach.

We report a case of a sixth-month-pregnant 37-year-old woman with abdominal pain with the presence of a dermoid cyst of the left ovary. The diagnostic work-up required a multi-modality imaging approach. In particular, US and MR examinations were initially performed but resulted with an inconclusive outcome of a final diagnosis. Hence, a CT scan was successively used to formulate lesion characterization. Thus, integrated imaging approach would be recommended.

Clinical value of high-resolution (5-17 MHz) echo-color Doppler (ECD) for identifying filling materials and assessment of damage or complications in aesthetic medicine/surgery.

PURPOSE: The purpose of this retrospective study is to evaluate the role of echo-color-Doppler (ECD) imaging in identifying a series of characteristics pursuant to aesthetic filling material such as their degree of absorbability and their potential complications which include their propensity to stimulate the formation of encapsulated foreign-body granulomas. In the latter case, ECD can be of aid by giving indication for surgical therapy. MATERIALS AND METHODS: Over a 4-year period, we studied 180 patients (60 ♂) who underwent an aesthetic medical/surgical treatment. We used ECD to evaluate the implant material, its thickness, the injection site, the integrity of dermal layers and the presence of any associated complications. RESULTS: In 97% (174/180) of our patients, we were able to identify the type of material used; furthermore, 57% of patients had a hyaluronic acid implant, 14% a lipofilling and 29% a non-absorbable filler (with 10% of silicone). In 6/180 (3%), we could not recognize the material used; 89% (161/180) of our patients presented post-injection complications; moreover, 67% showed peri-implant dermal-hypodermal thickening areas with adjacent lymphostasis, 6% displayed an abnormal implant site, and 17% showed inflammation with encapsulated foreign-body granulomas that required subsequent surgical excision. Biopsy samples were obtained from 37/180 patients (21%); among these, 31 patients had an ECD evidence of granuloma and on 6 patients we were not able to define the injected material. Histopathological examination identified 29 granulomas, 5 sterile abscesses and 3 chronic inflammations in the absence of granuloma. ECD showed an overall 78% diagnostic accuracy, with 90% sensitivity and 37% specificity in detecting filler granulomas. CONCLUSION: ECD is a low-cost technique that allows to identify filling materials and to assess the complications of an esthetic medical/surgical treatment.

The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat.

Niemann-Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder characterized by defective intracellular lipid trafficking, with secondary accumulation of free cholesterol, sphingosine, and glycosphingolipids. NPC is clinically characterized by a wide spectrum of manifestations with progressive visceral and neurological involvement, including dysphagia. Neurological manifestations represent the most debilitating findings. Swallowing impairment is a frequent cause of morbidity and disability in NPC patients and progressive dysphagia may be considered a marker of neurological progression. Recently substrate reduction therapy with miglustat has been proposed for the treatment of neurological manifestations in NPC patients. This observational study reports on the long-term use of miglustat in four pediatric patients with NPC and shows the efficacy of the treatment to improve or prevent dysphagia, and persistence after 3 years of treatment or more. We used a videofluoroscopic analysis of liquid barium swallowing to provide additional information on patterns of impairment of the swallowing mechanism and to detect aspiration. In three patients showing dysphagia and aspiration we observed the improvement of the swallowing function and the sustained absence of barium aspiration in the airways after miglustat treatment, while the patient with normal swallowing function at baseline did not show any deterioration. We suggest that the videofluoroscopic study of swallowing should be routinely used to monitor the effects of treatment on swallowing ability in NPC patients.

Metabolic, hormonal, oxidative, and inflammatory factors in pediatric obesity-related liver disease.

OBJECTIVE: To examine the role of metabolic, hormonal, oxidative, and inflammatory factors in pediatric obesity-related liver disease. STUDY DESIGN: In 50 obese children (age 7 to 14 years) with (n = 20, group 1) or without (n = 30, group 2) hypertransaminasemia and ultrasonographic liver brightness, we studied insulin resistance (fasting glucose/insulin ratio [FGIR]) and serum levels of leptin, iron, transferrin, ferritin, C-reactive protein (CRP), white blood cell (WBC) count, tumor necrosis factor (TNF)-alpha, interleukin (IL)-6, C282Y and H63D mutations, and erythrocytic glutathione peroxidase (GPX) activity. RESULTS: FGIR (6.7 +/- 4.1 vs 9.2 +/- 5.2; P = .02), serum ferritin (88.8 +/- 36.0 vs 39.9 +/- 24.0 ng/mL; P = .0001), serum CRP (5.4 +/- 6.0 vs 1.1 +/- 1.6 mg/dL; P = 0.004), and GPX (8.4 +/- 0.9 vs 5.0 +/- 0.5 U/g Hb; P = .05) were significantly higher and more frequently deranged in group 1 than in group 2. FGIR, ferritin, and CRP values were simultaneously deranged in 41% of the group 1 patients and in none of the group 2 patients ( P = .098). Serum leptin, iron, and transferrin, WBC, TNF-alpha, IL-6, and C282Y and H63D mutations were similar in the 2 groups. CONCLUSIONS: Insulin resistance, oxidative stress, and low-grade systemic inflammatory status are implicated in pediatric obesity-related liver disease. These findings may be useful in planning pathophysiologically based therapeutic trials for hepatopathic obese children who are unable to follow hypocaloric diets.