A case of split notochord syndrome: a child with a neuroenteric fistula presenting with meningitis

The authors describe a case of split notochord syndrome with a neuroenteric fistula in a newborn presenting with meningitis. Associated anomalies included agenesis of the corpus callosum, short colon, malrotation, epispadias, and an abnormally high bifurcation of the abdominal aorta and inferior vena cava. The embryological mechanisms and etiologic theories are discussed in short

Conversion to below-elbow cast after 3 weeks is safe for diaphyseal both-bone forearm fractures in children

Background It is unclear whether it is safe to convert above-elbow cast (AEC) to below-elbow cast (BEC) in a child who has sustained a displaced diaphyseal both-bone forearm fracture that is stable after reduction. In this multicenter study, we wanted to answer the question: does early conversion to BEC cause similar forearm rotation to that after treatment with AEC alone? Children and methods Children were randomly allocated to 6 weeks of AEC, or 3 weeks of AEC followed by 3 weeks of BEC. The primary outcome was limitation of pronation/supination after 6 months. The secondary outcomes were re-displacement of the fracture, limitation of flexion/extension of the wrist and elbow, complication rate, cast comfort, complaints in daily life, and cosmetics of the fractured arm. Results 62 children were treated with 6 weeks of AEC, and 65 children were treated with 3 weeks of AEC plus 3 weeks of BEC. The follow-up rate was 60/62 and 64/65, respectively with a mean time of 6.9 (4.7-13) months. The limitation of pronation/supination was similar in both groups (18 degrees for the AEC group and 11 degrees for the AEC/BEC group). The secondary outcomes were similar in both groups, with the exception of cast comfort, which was in favor of the AEC/BEC group. Interpretation Early conversion to BEC cast is safe and results in greater cast comfort

Nodular Fasciitis With Malignant Morphology and a COL6A2-USP6 Fusion: A Case Report (of a 10-Year-old Boy)

Nodular fasciitis is usually a benign lesion genetically characterized by ubiquitin-specific protease 6 (USP6) rearrangements. We present a case of a 10-year-old boy with a 1.5-week history of a painless mass on the right chest wall, which was excised. A histomorphologically malignant tumor with pronounced pleomorphism, atypical mitotic figures, and a myoid immunophenotype was observed. The methylation profile was consistent with nodular fasciitis and fluorescence in situ hybridization confirmed USP6 rearrangement. Using Archer Fusion Plex (Sarcoma Panel) and RNA sequencing, a collagen, type VI, alpha 2 (COL6A2)-USP6 gene fusion was subsequently identified. Furthermore, DNA clustering analysis also showed a match with nodular fasciitis. During the follow-up of 22 months, no recurrence or metastasis occurred. In conclusion, we describe a clinically benign, histomorphologically malignant mesenchymal neoplasm with a myoid immunophenotype, and a genetic and epigenetic profile consistent with nodular fasciitis. In such cases, molecular analysis is a useful adjunct to avoid unnecessary overtreatment

Lymphovascular invasion quantification could improve risk prediction of lymph node metastases in patients with submucosal (T1b) esophageal adenocarcinoma

AIM: To quantify lymphovascular invasion (LVI) and to assess the prognostic value in patients with pT1b esophageal adenocarcinoma. METHODS: In this nationwide, retrospective cohort study, patients were included if they were treated with surgery or endoscopic resection for pT1b esophageal adenocarcinoma. Primary endpoint was the presence of metastases, lymph node metastases, or distant metastases, in surgical resection specimens or during follow‐up. A prediction model to identify risk factors for metastases was developed and internally validated. RESULTS: 248 patients were included. LVI was distributed as follows: no LVI (n = 196; 79.0%), 1 LVI focus (n = 16; 6.5%), 2–3 LVI foci (n = 21; 8.5%) and ≥4 LVI foci (n = 15; 6.0%). Seventy‐eight patients had metastases. The risk of metastases was increased for tumors with 2–3 LVI foci [subdistribution hazard ratio (SHR) 3.39, 95% confidence interval (CI) 2.10–5.47] and ≥4 LVI foci (SHR 3.81, 95% CI 2.37–6.10). The prediction model demonstrated a good discriminative ability (c‐statistic 0.81). CONCLUSION: The risk of metastases is higher when more LVI foci are present. Quantification of LVI could be useful for a more precise risk estimation of metastases. This model needs to be externally validated before implementation into clinical practice

Colorectal liver metastases: Surgery versus thermal ablation (COLLISION) - a phase III single-blind prospective randomized controlled trial

Background: Radiofrequency ablation (RFA) and microwave ablation (MWA) are widely accepted techniques to eliminate small unresectable colorectal liver metastases (CRLM). Although previous studies labelled thermal ablation inferior to surgical resection, the apparent selection bias when comparing patients with unresectable disease to surgical candidates, the superior safety profile, and the competitive overall survival results for the more recent reports mandate the setup of a randomized controlled trial. The objective of the COLLISION trial is to prove non-inferiority of thermal ablation compared to hepatic resection in patients with at least one resectable and ablatable CRLM and no extrahepatic disease. Methods: In this two-arm, single-blind multi-center phase-III clinical trial, six hundred and eighteen patients with at least one CRLM (≤3cm) will be included to undergo either surgical resection or thermal ablation of appointed target lesion(s) (≤3cm). Primary endpoint is OS (overall survival, intention-to-treat analysis). Main secondary endpoints are overall disease-free survival (DFS), time to progression (TTP), time to local progression (TTLP), primary and assisted technique efficacy (PTE, ATE), procedural morbidity and mortality, length of hospital stay, assessment of pain and quality of life (QoL), cost-effectiveness ratio (ICER) and quality-adjusted life years (QALY). Discussion: If thermal ablation proves to be non-inferior in treating lesions ≤3cm, a switch in treatment-method may lead to a reduction of the post-procedural morbidity and mortality, length of hospital stay and incremental costs without compromising oncological outcome for patients with CRLM. Trial registration:NCT03088150 , January 11th 2017

Patients with type 1 diabetes exhibit altered cerebral metabolism during hypoglycemia

Contains fulltext : 118937.pdf (publisher's version ) (Open Access)Patients with type 1 diabetes mellitus (T1DM) experience, on average, 2 to 3 hypoglycemic episodes per week. This study investigated the effect of hypoglycemia on cerebral glucose metabolism in patients with uncomplicated T1DM. For this purpose, hyperinsulinemic euglycemic and hypoglycemic glucose clamps were performed on separate days, using [1-13C]glucose infusion to increase plasma 13C enrichment. In vivo brain 13C magnetic resonance spectroscopy was used to measure the time course of 13C label incorporation into different metabolites and to calculate the tricarboxylic acid cycle flux (VTCA) by a one-compartment metabolic model. We found that cerebral glucose metabolism, as reflected by the VTCA, was not significantly different comparing euglycemic and hypoglycemic conditions in patients with T1DM. However, the VTCA was inversely related to the HbA1C and was, under hypoglycemic conditions, approximately 45\% higher than that in a previously investigated group of healthy subjects. These data suggest that the brains of patients with T1DM are better able to endure moderate hypoglycemia than those of subjects without diabetes

Single-bone intramedullary fixation of unstable both-bone diaphyseal forearm fractures in children leads to increased re-displacement:A multicentre randomised controlled trial

Introduction: Both-bone diaphyseal forearm fractures in children can be stabilised without cast by a flexible intramedullary nail in both the radius and the ulna. Adequate results with single-bone fixation combined with a complementary cast are also reported. However, because those results are based on a selection of children, this trial investigates whether single-bone intramedullary fixation, compared with both-bone intramedullary fixation, results in similar pronation and supination in children with an unstable diaphyseal both-bone forearm fracture. Materials and methods: In four Dutch hospitals, 24 consecutive children aged &lt;16 years with a displaced unstable both-bone diaphyseal forearm fracture were randomly allocated to single-bone or both-bone intramedullary fixation. Primary outcome was limitation of pronation and supination 9 months after initial trauma. Secondary outcomes were limitation of flexion/extension of wrist/elbow, complication rate, operation time, cosmetics of the fractured arm, complaints in daily life, and assessment of radiographs. Results: Between January 2006 and August 2010, 11 children were randomised to single-bone fixation and 13 to both-bone fixation. In the both-bone fixation group, two fractures were stabilized by only one nail. In both groups, median limitation of pronation/supination at 9-month follow-up was 5 -10. In both groups operation time was similar but in the single-bone fixation group cast immobilisation was longer (median of 37 vs. 28 days). In four children, re-displacement of the fracture occurred in those fractures without an intramedullary nail. Conclusions: These results caution against the use of single-bone fixation in all both-bone forearm fractures. This method may lead to increased re-displacement and reduced clinical results.</p

Single-bone intramedullary fixation of unstable both-bone diaphyseal forearm fractures in children leads to increased re-displacement:A multicentre randomised controlled trial

Introduction: Both-bone diaphyseal forearm fractures in children can be stabilised without cast by a flexible intramedullary nail in both the radius and the ulna. Adequate results with single-bone fixation combined with a complementary cast are also reported. However, because those results are based on a selection of children, this trial investigates whether single-bone intramedullary fixation, compared with both-bone intramedullary fixation, results in similar pronation and supination in children with an unstable diaphyseal both-bone forearm fracture. Materials and methods: In four Dutch hospitals, 24 consecutive children aged &lt;16 years with a displaced unstable both-bone diaphyseal forearm fracture were randomly allocated to single-bone or both-bone intramedullary fixation. Primary outcome was limitation of pronation and supination 9 months after initial trauma. Secondary outcomes were limitation of flexion/extension of wrist/elbow, complication rate, operation time, cosmetics of the fractured arm, complaints in daily life, and assessment of radiographs. Results: Between January 2006 and August 2010, 11 children were randomised to single-bone fixation and 13 to both-bone fixation. In the both-bone fixation group, two fractures were stabilized by only one nail. In both groups, median limitation of pronation/supination at 9-month follow-up was 5 -10. In both groups operation time was similar but in the single-bone fixation group cast immobilisation was longer (median of 37 vs. 28 days). In four children, re-displacement of the fracture occurred in those fractures without an intramedullary nail. Conclusions: These results caution against the use of single-bone fixation in all both-bone forearm fractures. This method may lead to increased re-displacement and reduced clinical results.</p

Optimized [1-(13)C]glucose infusion protocol for 13C magnetic resonance spectroscopy at 3T of human brain glucose metabolism under euglycemic and hypoglycemic conditions.

Contains fulltext : 89924_pub.pdf (publisher's version ) (Closed access) Contains fulltext : 89924_aut.pdf (author's version ) (Open Access)The effect of insulin-induced hypoglycemia on cerebral glucose metabolism is largely unknown. (13)C MRS is a unique tool to study cerebral glucose metabolism, but the concurrent requirement for [1-(13)C]glucose administration limits its use under hypoglycemic conditions. To facilitate (13)C MRS data analysis we designed separate [1-(13)C]glucose infusion protocols for hyperinsulinemic euglycemic and hypoglycemic clamps in such a way that plasma isotopic enrichment of glucose was stable and comparable under both glycemic conditions. (13)C MR spectra were acquired with optimized (13)C MRS measurement techniques to obtain high quality (13)C MR spectra with these protocols