Abstract Background Non-invasive assessment of Fontan Associated Liver Disease (FALD) is of interest, but studies have yielded inconsistent results about the correlation of severity of disease with laboratory values and imaging. Transient elastography (TE) is a non-invasive imaging modality used commonly for liver stiffness measurement (LSM) and in Fontan patients it is hypothesized to reflect not only liver fibrosis but also venous congestion. Purpose To better define the potential role of TE for non-invasive assessment of the severity of FALD. Method This was a retrospective study conducted on patients’ medical records at CHU Sainte-Justine Hospital. Patients less than 18 years of age with FALD who had at undergone at least one LSM by TE between 1998-2021 were included. The relationship between LSM and liver function tests, hepatic ultrasound findings (including a cirrhosis score), cardiac catheterization results and histological fibrosis scores were analyzed. The impact of interventions during cardiac catherization on LSM were also studied. Result(s) A total of 54 patients (36 boys and 18 girls) with FALD were studied. Median age at Fontan surgery was 4.6 years (IQR 4.0 ─ 5.4 years). Higher LSM values significantly correlated with longer time from Fontan, higher total and direct bilirubin and GGT levels, higher INR, longer APTT, lower Factor V, and lower absolute lymphocyte count. Greater LSM was also significantly associated with the presence of heterogenous parenchymal echogenicity, irregular liver contours and greater ultrasonographic cirrhosis scores. Higher TE values were significantly correlated with higher wedged hepatic venous pressure and Fontan pressure. After catherization interventions that addressed stenoses, there was a statistically significant reduction in mean LSM (24.9±3.63 kPa vs 15.8±4.6 kPa, p=0.005). After closure of significant pulmonary collaterals, mean LSM tended to increase, but this difference did not reach statistical significance (19.1±1.9 kPa vs 24.6±3.5 kPa, p=0.2). At liver biopsy, significant direct correlation was found between LSM and the grade of sinusoidal fibrosis and LSM. TE with values >20 kPa were found to have higher grades of sinusoidal fibrosis, while values <20kPa had higher grades of sinusoidal dilatation. Conclusion(s) This study showed that TE allows to identify patients with higher cholestatic parameters, more severe liver fibrosis at biopsy and sonographic signs suggestive of cirrhosis. Moreover, it confirmed that liver congestion significantly contributes to LSM values. Interestingly, catheter interventions addressing pulmonary stenoses led to the improvement of TE measurements, giving hope for the reduction of hepatic venous congestion in these patients, which might have an effect on their FALD. Finally, the LSM threshold of 20 kPa could be useful clinically as a value above which fibrosis is likely to be significant, while if below could indicate a greater contribution from hepatic congestion. Please acknowledge all funding agencies by checking the applicable boxes below None Disclosure of Interest None Declared

To evaluate the safety and efficacy of endovascular management of CPSS. A retrospective review of the CPSS treated by endovascular approach at our institution was performed between 2005 and 2017. Demographic characteristics were recorded. Clinical records were reviewed for: symptoms at presentation, presence of cutaneous lesions, failure to thrive, symptoms of heart failure, etc. Laboratory records were reviewed for: liver function tests, serum ammonia levels, albumin, etc. Imaging records were reviewed for the anatomical characterization of the shunt, the presence of liver lesions, embolization procedure. Post-embolization follow-up was done through a review of the clinical and imaging records. A total of 13 patients (6 male and 7 female) with CPSS (10 intrahepatic and 3 extrahepatic) were treated. Mean age at treatment was 3.9 years (range from birth to 15 years). Clinically, all patients presented symptoms of fatigue and one had persistent cholestasis and one had hypoglycemic symptoms. All had elevated ammonia levels. Cutaneous telangiectasias were present in 2 patients and 2 patients had liver lesions. Cardiac ultrasound was normal in all cases. Occlusion material used for the intrahepatic CPSS was: coils (n=5), Amplatzer plug (n=4) and Onyx (n=1). For the extrahepatic CPSS, occlusion material was coils (n=1) and covered stent (n=2). All patients showed complete occlusion of the CPSS after the procedure. One patient had complete regression of a hepatic mass (biopsy proven focal nodular hyperplasia) and one had complete regression of the cutaneous telangiectasia. According to SIR guidelines (1), 3 adverse events occurred: 2 were mild (Onyx lung embolization without symptom and partial thrombosis of the internal jugular vein) and 1 moderate (GI bleeding with ascites due to thrombosis of the portal and superior mesenteric veins). Endovascular management of both intra- and extrahepatic CPSS can be safe and effective in the majority of cases. For the extrahepatic shunt, stent placement is an alternative to surgery.

BACKGROUND:The remarkable progress in the treatment of childhood acute lymphoblastic leukemia (cALL) has led to a survival rate reaching 90%. This success story is unfortunately linked to increased risk of impaired skeletal mass accumulation during childhood and adolescence, predisposing the patients to osteoporosis and pathological fractures at adulthood. OBJECTIVE:This study aims at characterizing the vitamin D status and bone health biomarkers in a well-characterized cohort of cALL survivors. RESULTS:Food frequency questionnaires reveal that (i) the total vitamin D intake varies greatly (44-2132 IU/d), (ii) only 16.8% of the participants consume vitamin D supplements, and (iii) 74% of survivors' intakes are below the Recommended Daily Intakes (400 IU/d). For the 42 participants taking vitamin D supplements, the median (2.5-97.5%iles) intake is 600 IU/d (21.2-1972 IU/d). Sixteen participants are vitamin D deficient (<30 nM) and 66 insufficient (≥30 - <50 nM). Serum 24,25(OH)2D3 concentrations are directly related to those of 25OHD3, and those of 3-epi-25OHD3 below the Lower Limit of Quantification in most samples. The participants' serum concentrations of cross-linked C-telopeptide of type-I collagen and intact amino-terminal pro-peptide of type-I collagen decrease steadily with age, leveling at adulthood, and are at all times higher in males. CONCLUSION:The present study shows that the prevalence of vitamin D insufficiency or deficiency is not greater in cALL survivors compared to the general Canadian population despite low vitamin D food and supplement intakes. Furthermore, there seem to be no overt imbalance in the gender- and age-adjusted serum bone turnover marker concentrations.

Congenital portosystemic shunts are rare vascular malformation that can lead to pulmonary hypertension, encephalopathy and liver tumors. They were classified as type I(end-to-side portocaval fistula with no visible portal flow in the liver) and type II(side-to-side portocaval fistula)shunts.Type I shunts are often referred to a congenital absence of the portal vein(CAPV), and are still considered an indication for liver transplantation, whereas surgical or percutaneous closure is usually feasible for type II shunts. Through a case report and a review of all published patients, we show that what is initially diagnosed as CAPV may conceal a hypoplasic portal vein that can successfully be closed by surgical ligation. A 2-year-old girl was referred for liver transplantation in the context of recent diagnosis of CAPV. At presentation she was asymptomatic and showed a hypertrophic left liver lobe, without any complications. Her blood tests were normal excepted for moderately elevated serum ammonia levels. MRI confirmed the diagnosis of a type Ib portosystemic shunt(with superior mesenteric and splenic veins joining to form a short portal trunk ending into the inferior vena cava). Percutaneous venogram confirmed the absence of the portal vein. Nevertheless, a second direct catheterization of the shunt with temporary shunt occlusion allowed us to visualize an hypoplasic portal vein arising from the posterior face of the shunt. Pressure was measured at 12mmHg in standard conditions and 36mmHg upon temporary occlusion. We decided for a two-step occlusion. A partial banding was carried out without significant complications(normal liver tests, minimal transient ascites). The shunt was permeable, with a measurable portal flow, at follow-up Doppler ultrasound. 2 months later, moderate elevation of liver enzymes(3xULN) and mild ascites were detected, but resolved spontaneously within a few weeks. The shunt was not detected anymore, and the Doppler study showed a normal portal flow. A percutaneous venogram confirmed the total closure of the shunt and the permeability of the portal vein. The child is asymptomatic at 6-month follow-up. 202 cases of extrahepatic shunts were reported since 1979, of which 134 were described as CAPV. 38 patients(19%) had percutaneous or surgical shunt closure(12 &26, respectively), whereas 25 patients(12%) received a liver transplantation. Among all transplanted patients, only 4% had a preoperative percutaneous venogram with temporary shunt occlusion. Overall, the case reported here exemplifies what emerges from published literature: a precise evaluation of the shunt with percutanous venogram and temporary occlusion is warranted in all patients with suspected CAPV. It allows detecting otherwise invisible hypoplasic portal veins that allow tore establish a physiological hepatic circulation and avoid liver transplantation. None

PurposeTo determine the effects of omega-3 supplementation on liver fat and carotid intima-media thickness (IMT) and to assess accuracy of ultrasound (US) for grading liver steatosis.Materials and MethodsIn this one-way crossover pilot study, we assigned children with obesity and liver steatosis to receive 1.2g daily of omega-3 supplementation vs. inactive sunflower oil for 24 or 12weeks. Liver fat content was assessed by magnetic resonance spectroscopy (MRS), magnetic resonance imaging (MRI) and US, and common carotid IMT by US. Statistical analysis included Chi-square, Student's t-tests, ANOVA tests and receiver operating characteristic (ROC) curves.ResultsOmega-3 supplementation was associated with a trend towards decrease in MRS-determined liver fat fraction (0.7% and 2.1% decrease in the 24-week and 12-week omega-3 group, respectively) compared with the sunflower oil group (1.0% increase). These changes were not significant, whether assessed by MRS (P = 0.508), MRI (P = 0.508) or US (P = 0.678). Using US, the area under the ROC curves were 0.964, 0.817 and 0.783 for distinguishing inferred steatosis grades 0 vs. 1-2-3, 0-1 vs. 2-3 and 0-1-2 vs. 3, respectively, indicating good accuracy of US-based fat grading. Omega-3 supplementation was associated with a decrease in US-determined IMT (0.05-mm decrease in the 24-week omega-3 group. A 0.015-mm increase was found in the 12-week omega-3 group, and a 0.007-mm decrease in the sunflower oil group (P = 0.003).ConclusionOmega-3 supplementation had no significant effect on liver fat fraction, but led to carotid IMT decrease in children with obesity and liver steatosis.

Congenital hemangiomas, a rare type of vascular tumour, are characterised by their visibility at birth and the fact that they do not increase in size after birth since they have reached full maturity in utero. Rapidly involuting congenital hemangioma (RICH) is the most common subtype, known for its capacity to spontaneously regress. They can reach very large sizes and are usually located on the head and neck regions. We present a case of a 29 y.o woman referred to our tertiary care centre at 32+5 weeks of gestation for a voluminous fetal facial vascular mass located on the right side of the fetal face diagnosed during a routine fetal growth US. Normal detailed ultrasounds had been performed at 12 and 20 weeks. Detailed morphological ultrasound showed a very large hypervascular right facial mass (38 x 43mm) encompassing the right cheek and including the inferior eyelid, right nasal cavity, upper lip and right ear laterally, without intracranial extension. A fetal MRI at 35 weeks revealed a normal fetal brain, an increase in size of the facial mass (53 x 66 mm) and a highly vascular pattern compatible with a RICH. Fetal echocardiography showed a morphologically normal heart, cardiomegaly and abnormal fetal circulation with an aortic flow significantly deviated towards the head but without any signs of cardiac failure. Because of the localisation of the mass and the increasing size, an elective Caesarean section was planned and performed at 38+2 weeks after premature rupture of membranes. Postnatally, the diagnosis of a RICH was confirmed. Imaging showed that the hemangioma was supplied by the 2 external carotid arteries. In the first month of life, 3 embolisations were performed. At 6 months of life, the baby is still on sirolimus (immunosuppression drug) and is followed by dermatology with frequent ultrasounds since the hemangioma is still present.

The Fontan procedure results in hepatic venous congestion, with consequent Fontan-associated liver disease (FALD). Biochemical markers are bad predictors of liver fibrosis and dysfunction in FALD. No intervention other than early heart transplant was shown to alter FALD progression.

Legend 1: Figure 1 Long-term transgene expression efficiency in mMSCs after lentiviral vector transduction

Failed visualisation of the fetal nasal bone is strongly associated with aneuploidies (T21, 13, and 18). It may also rarely be observed in euploid fetuses, mostly of Afro-Caribbean and Asian ethnicities. Absent nasal bone can be the presenting sign for cleidocranial dysplasia. Case report: A 42-year-old pregnant woman was referred at 24 weeks for an absent nasal bone (Fig 1). In addition to this finding, the fontanelles were large with wide sutures (Fig 2), the brain parenchyma was unusually clearly visible, and the clavicles were hypoplastic (Fig 3). Fetal growth was normal. The child's father had two children from a previous relationship who had missing clavicles. The diagnosis of cleidocranial dysplasia was made and confirmed by amniocentesis with detection of RUNX2 gene mutation. Discussion: Cleidocranial dysplasia is an autosomal dominant skeletal dysplasia characterised by abnormal bone and dental development with normal cognitive function. 80% of cases are caused by a mutation in the RUNX2 gene. Prenatal genetic testing for this mutation is available. The prenatal sonographic diagnosis is primarily based on clavicular hypoplasia or aplasia and insufficient ossification of the cranium. In the few published cases, there are occasional references to the absence of the nasal bone, yet in most cases this is retrospective. Absent nasal bone may help to establish the prenatal diagnosis. Prenatal diagnosis is important, since the abnormal ossification of the skull and chest may expose the fetal brain and lungs to potential damage during natural birth. In conclusion, in absence of fetal nasal bone and low risk for fetal aneuploidies or if aneuploidies are excluded, consider cleidocranial dysplasia and check the clavicles.

Le syndrome « CLAPO » est une entité récemment décrite associant malformation capillaire de la lèvre inférieure, malformation lymphatique de la face et du cou, asymétrie et hypertrophie partielle (partial overgrowth) ou généralisée (Lopez-Gutierrez, 2008). À ce jour, 7 cas ont été rapportés dans la littérature. Nous avons identifié 8 enfants présentant la malformation capillaire caractéristique de la lèvre inférieure décrite dans le syndrome « CLAPO » entre 2005 et 2015. Huit enfants ont été vus dans le service de dermatologie pédiatrique du CHU Sainte-Justine entre 2005 et 2015 pour une malformation capillaire de la lèvre inférieure centrale, débordant légèrement sous la lèvre. Tous ces patients ont été initialement référés dans le but d'un traitement par laser colorant pulsé. L'âge moyen à la première consultation était de 10 mois (1 mois–4 ans). Lors de la consultation initiale, aucun ne présentait d'anomalies associées, en particulier de la cavité buccale, d'asymétrie ou d'hypercroissance, en dehors d'une minime hypertrophie de la lèvre inférieure dans deux cas. Au cours du suivi (délai moyen : 7 ans, entre 4 et 10 ans), 4 des 8 patients (2 filles, 2 garçons) ont développé une malformation lymphatique microkystique de la langue entre les âges de 3 et 7 ans. Ces patients étaient peu ou pas symptomatiques. Un patient a développé une malformation veno-lymphatique sublinguale et submandibulaire (patient 4). Lors des dernières consultations, notre examen clinique soigneux n'a pas montré de progression de l'hypertrophie labiale ni d'hypercroissance évidente. Ces patients semblent présenter une forme fruste de syndrome CLAPO. Chaque enfant présentant une malformation capillaire de la lèvre inférieure même isolée devrait être soigneusement examiné et suivi afin de détecter une hypercroissance, une asymétrie faciale ou une malformation lymphatique, en particulier de la langue. Plus d'observations permettraient de mieux définir cette entité.

P001 - Sepsis impairs the capillary response within hypoxic capillaries and decreases erythrocyte oxygen-dependent ATP efflux

OBJECTIVES:Knowledge of physiological variations of bone mineral density (BMD) in newborns and infants is necessary to evaluate pathological changes associated with fractures. Limited reference data for children under 5 years old are available. This study provides normative data of lumbar BMD for the Lunar Prodigy in young children under 5 years old.SUBJECTS AND METHODS:We assessed cross-sectionally 155 healthy children (77 boys, 80% Caucasian), ranging in age from newborn to the age of 5 years. Lumbar bone mineral content (BMC) and areal BMD were measured by dual-energy X-ray absorptiometry using a Lunar Prodigy absorptiometer. Volumetric BMD was calculated using the Kroeger and Carter methods.RESULTS:BMC and areal BMD increased from birth to 5 years (p<0.001). Volumetric BMD did not change with age. BMD and BMC correlated with age, weight and height (R(2)≥0.85 for all), with a maximum gain between the ages of 1 and 4 years, which did not follow the same pattern as height velocity. We did not find significant sex difference for any of the three measured parameters.CONCLUSION:This study provides normative data for lumbar spine densitometry of infants and young children using the Lunar Prodigy DXA system.

La tétralogie de Fallot possède un large spectre anatomique. Dans les formes légères, l’obstruction se situe seulement au niveau de l’infundibulum ventriculaire droit alors que dans les formes sévères, la valve pulmonaire est atrétique, les artères pulmonaires sont absentes et l’irrigation pulmonaire se fait par des collatérales aorto-pulmonaires. La prise en charge chirurgicale est différente allant vers une chirurgie classique dans le premier cas alors que dans l’autre, la prise en charge est complexe nécessitant une reconstruction des artères pulmonaires (unifocalisation) réalisée en plus d’une étape et avec un taux de morbidité élevé. Les facteurs déterminants à évaluer avant la chirurgie correctrice sont : les niveaux et le degré d’obstruction de la voie de chasse du ventricule droit, le développement des artères pulmonaires et la présence de collatérales.

Background & Objectives: Traditionally, an open breathing system without gas scavenging is used for induction with volatile agents in pediatric patients, resulting in OR pollution. However, multiple adverse health outcomes are linked to occupational exposure to waste anesthetic gases (WAG). Mapleson A is the circuit of choice for spontaneous respiration, because there is negligible rebreathing. However, during controlled ventilation, fresh gas flow (FGF) rate must be very high (minimal 3 times patient´s minute volume) to prevent rebreathing. Mapleson B and C systems are very inefficient systems (very high FGF rates are needed to prevent rebreathing) resulting in maximum theatre pollution. Mapleson D, E and F are inefficient during spontaneous ventilation (FGF rate must be 1,5 to 2 times patient´s minute volume). However, they are the most efficient systems during controlled ventilation. We conducted a survey of the current use of Mapleson breathing systems and the use of a gas scavenging system for pediatric anesthesia in Belgian hospitals. Materials & Methods: In May 2015, the chairmen of all 94 departments of anesthesia in Belgium were invited by email to participate in the survey. Reminders were sent to non-responders weekly (4 times). The remaining non-responders were contacted one last time by post with an identical questionnaire. Descriptive statistics were used to summarize numeric responses. Results: During the period May 2015 – October 2015, 71 departments responded (response rate 75,5%). Mapleson A and E systems are used in only a few hospitals (fig 1). Mapleson B and C systems are used in respectively 12 and 19 hospitals (43,5%). Mapleson D and F systems are used in respectively 20 and 7 hospitals. 4 hospitals never use a Mapleson breathing circuit and 4 hospitals were not able to give information on this topic. A gas scavenging system connected to the Mapleson breathing system during induction of pediatric anesthesia is used in only 29 of 63 (46%) hospitals (fig 1). More specific, 15 of the 31 hospitals using a Mapleson B or C circuit, don´t scavenge WAG during induction of pediatric anesthesia.Conclusion: Mapleson systems are still currently used in the majority of Belgian hospitals. The extremely inefficient Mapleson B and C systems are the circuits of choice in almost half of Belgian hospitals. Furthermore, Mapleson circuits are used without a WAG scavenging system connected to the breathing system in more than half of these hospitals, resulting in a huge occupational health risk in Belgian hospitals. This implies that implementation of WAGC measurement in the OR should be obligatory in all hospitals in an attempt to reduce occupational exposure to WAG. Disclosure of Interest: None declared

Tetralogy of Fallot has a broad anatomical spectrum. In mild forms of the condition the obstruction is only located in the right ventricular infundibulum, whereas in severe forms the pulmonary valve is atretic, the pulmonary arteries are absent and the lung is supplied by aorto-pulmonary collateral arteries. Surgical management differs from conventional surgery in the former situation, whereas in the latter it is complex and requires reconstruction of the pulmonary arteries (unifocalization) carried out in more than one stage and with a high morbidity rate. The key factors to establish before corrective surgery are the levels and degree of obstruction of the right ventricular outflow tract, the development of the pulmonary arteries and the presence of collateral arteries. The main role of magnetic resonance imaging along with that of computed tomography angiography are discussed and illustrated.

Deep surgical site infections (DSSI) are a major complication after cardiac surgery with a high mortality rate and reported incidences between 0.5 and 5%. Implementing a comprehensive infection control program (ICP) reduces this incidence [1]. The incidence in our hospital varied from 3.1 to 3.8%, which was considered too high. We evaluated the impact of introducing a multimodal ICP on the incidence of DSSI.

Non-alcoholic fatty liver disease (NAFLD) represents one of the most common causes of liver disease worldwide. As the NAFLD pathogenesis is associated with diet and lifestyle, the aims of the present work are to assess fatty acid (FA) composition in NAFLD young French-Canadian, to determine whether treatment with n-3 FA improves the plasma FA profile, and to define the time on the effectiveness of n-3 FA supplementation. Baseline characteristics of the NAFLD subjects show increased, anthropometric and biochemical parameters. Their plasma FA composition is characterized by a percent increase in total n-6 FA and a high proportion of saturated and total monounsaturated FA, as well as a decrease in Δ5 and increase in Δ6 desaturases. In conclusion, our results document for the first time the composition of plasma FAs in NAFLD young French Canadian and the efficacy of 3-month supplementation to improve the proportion of n-3 FA in their plasma.

We describe here a two-yr-old boy with biliary RMS successfully treated by chemotherapy and LT. The child presented with obstructive jaundice at 20 months of age. A mildly vascularized, non-calcified, partially cystic lesion was visualized in the left hepatic lobe. Solid infiltration of the common bile duct and of both left and right hepatic ducts was suspected. Liver biopsy suggested a botryoid-type embryonal RMS originating from the biliary tract. After extrahepatic spread of the tumor was excluded, a biliary drain was applied and neoadjuvant chemotherapy was started. After the treatment, although reduced in volume, the mass was still unresectable without aggressive surgery and gross residual disease. LT with a reduced segment II/III graft was performed four months after diagnosis. The patient received six cycles of adjuvant chemotherapy, and he is alive and recurrence-free 48 months post-transplantation. A posteriori, the transplant might have possibly been avoided with an aggressive resection with biliary reconstruction. Nevertheless, although the risk of the transplant has to be balanced against the chemoresponsiveness of the tumor, the four-yr disease-free survival of this patient suggests that, when coupled with effective chemotherapy, transplantation might be considered a potential treatment for unresectable biliary RMS.