An Adolescent Female With Concurrent Presentation of Autoimmune Hepatitis and Secondary Syphilis.

We describe concurrent diagnoses of autoimmune hepatitis (AIH) and secondary syphilis in a 17-year-old adolescent with jaundice, with possible syphilitic hepatitis (SH) excluded after a thorough investigation. Our patient presented with a several-day history of malaise, progressive jaundice, and vomiting. She disclosed being sexually active and requested testing for sexually transmitted infections. Her subsequent investigations demonstrated acute hepatitis with a positive antinuclear antibody and elevated IgG. She also tested positive for syphilis with a reactive rapid plasma regain and treponema pallidum particle agglutination assay. We considered 2 etiologies for her elevated liver enzymes: syphilitic hepatitis and AIH. AIH was confirmed on liver biopsy, establishing the first reported pediatric case of concurrent AIH and secondary syphilis. Syphilis is hypothesized to be an infectious trigger for AIH.

A Rare Presentation of Pediatric Lynch Syndrome Presenting with Recurrent Adenomatous Polyps.

Lynch syndrome (LS) is the most common cause of inherited colorectal cancer and the increases risk of developing extracolonic cancers. We present the first case of pediatric-onset LS with recurrent adenomatous colonic polyps presenting with rectal prolapse. This case highlights the importance of considering polyposis syndromes such as LS as possible diagnoses for pediatric patients who present with colorectal adenomatous polyps, as well as the need to consider immunohistochemical staining of polyps for mismatch repair protein expression in pediatric populations to rule out LS as a diagnosis. We demonstrate the need to consider pediatric patients in LS guidelines.

CFTR modulators increase risk of acute pancreatitis in pancreatic insufficient patients with cystic fibrosis.

Patients with pancreatic insufficient cystic fibrosis rarely develop acute pancreatitis due to insufficient acinar reserve. We describe a series of five patients under the age of 18 (range 8-16 years) with pancreatic insufficient cystic fibrosis who developed a phenotype in keeping with acute pancreatitis following initiation of CFTR modulator therapy. This occurred at a median of 30 months following CFTR modulator initiation. 3/5 of these patients also developed pancreatic sufficiency or at least an intermediary pancreas status, indicated by fecal elastases above 100 µg/g. This series highlights a mostly unrecognized potential side effect of this therapy as well as the potential of CFTR modulator therapies to improve exocrine pancreatic function, even in adolescent patients.

The prevalence of feeding difficulties and potential risk factors in pediatric intestinal failure: Time to consider promoting oral feeds?

BACKGROUND & AIMS: Although nutritional care is a cornerstone in the management of pediatric intestinal failure (IF), little is known about feeding difficulty (FD) prevalence. The aim of this study was to determine the frequency of FD and associated factors and to characterize eating behaviours in two pediatric IF rehabilitation centres (Hôpital-Necker Enfants Malades (NEM), France and Alberta Children's Hospital (ACH), Canada). METHODS: Parents of children (aged 1-18 years) on home parenteral nutrition (PN) for >3 months followed at NEM and ACH completed two validated tools: Montreal Children's Feeding scale for severity of FD, Child Eating Behaviour Questionnaire and a pediatric IF-specific questionnaire for FD associated risk factors. RESULTS: In the entire cohort (n = 59, median 5.2 years), 15% had mild, 19% had moderate and 25% had severe FD. No FD was seen in 53% vs 11% and severe FD was seen in 20% vs. 39% of the NEM and ACH cohorts respectively (p = 0.003). Current ETF was less common at NEM vs. ACH (3% vs. 50%, p < 0.001). The FD score was associated with current enteral tube feed (ETF) use (p = 0.04). Compared to healthy reference children, the NEM cohort did not differ for the enjoyment of food, whereas the ACH cohort's enjoyment was lower (p < 0.0001). The ACH cohort scored higher for food avoidance behaviours: food fussiness (p < 0.02), satiety responsiveness (p < 0.0001), and slowness in eating (p < 0.0001) while the NEM cohort was not different from healthy reference children. In the entire cohort, according to parental recall, 60% were reported to be NPO for >12 weeks in the first 6 months of life, and late introduction of purees (>9 months) and lumpy textures (>1 year) were found in 40% and 58%, respectively. Parent-recalled ETF differed between NEM and ACH in the first 6 months of life (45% vs 76%, p = 0.03). CONCLUSIONS: Feeding difficulty and associated risk factors, including early ETF, prolonged NPO and delays in achieving feeding milestones were frequently reported in pediatric IF. Feeding medicalization with the use of ETF may inadvertently contribute to FD and eating disorder behavioural characteristics. This study highlights the need for FD prevention and an increased focus on establishing healthy eating. Future prospective study of FD, associated risk factors and clinical outcomes are merited.

Echocardiographic Screening for Postoperative Pericardial Effusion in Children.

Pericardial effusion (PE) after cardiac surgery can be life threatening without timely detection, and the optimal screening method is unknown. We sought to evaluate the role of a surveillance echocardiogram on postoperative day 10 (± 2), determine the incidence of postoperative PE, and identify risk factors. We conducted a retrospective cohort study including all pediatric patients who underwent open heart surgery at a single institution over a 7-month period. To identify risk factors for PE, medical records of patients with PE detected within 6 weeks after surgery (cases) were compared with patients without PE (controls). Of 203 patients, 52 (26%) had PE within 6 weeks; 42 (81%) were trivial-small and 10 (19%) were moderate-large. Twenty-nine (56%) were first detected within 7 days post-operatively, including all cases developing cardiac tamponade (n = 3). An echocardiogram was done 10 (± 2) days post-operatively in 41/52 cases, of which 12/41 (29%) did not have a PE at this time, 24/41 (59%) had a trivial-small PE, and 5/41(12%) had a moderate-large PE; 2 of the latter had no prior detected PE. Closure of an atrial septal defect had the highest incidence of PE (42%). PE cases were associated with postoperative nasopharyngeal detection of a respiratory virus (OR 3.8, p = 0.03). In conclusion, the majority of PE cases were detected within 7 days post-operatively, including all cases subsequently developing cardiac tamponade. Day 10 echocardiography infrequently detected a moderate or large effusion that had previously gone undiagnosed. A positive perioperative nasopharyngeal aspirate for a respiratory virus was associated with postoperative PE.

Gastrointestinal and Hepatobiliary Disease in Cystic Fibrosis.

Cystic fibrosis (CF) is a multiorgan disease, and gastrointestinal (GI) manifestations can contribute to significant morbidity and mortality for individuals with CF. Up to 85% of patients with CF experience GI symptoms, thus addressing the GI aspects of this disease is paramount. With the advent of highly effective CF transmembrane conductance regulator modulators that are increasingly available, many individuals with CF now have significantly improved life expectancy. With these advances, GI manifestations that can be a detriment to quality of life such as gastroesophageal reflux disease, dysbiosis, and chronic abdominal pain have become a priority for patients and caregivers. In addition, as individuals have increased longevity, it has become essential for care providers to be aware of topics such as hepatobiliary disease and colorectal cancer screening. An understanding of the wide scope of GI manifestations in CF can enable providers to optimize the overall health and well-being of their patients. In this review, we aim to provide an up-to-date overview of key aspects of GI and hepatic disease in CF.

Gastrointestinal, Pancreatic, and Hepatic Manifestations of Cystic Fibrosis in the Newborn.

Gastrointestinal, pancreatic, and hepatic signs and symptoms represent the most common presentation of early disease among patients with cystic fibrosis and may be the initial indication of disease. Regardless of whether cystic fibrosis is diagnosed early by newborn screening or later by clinical course, the impact of gastrointestinal, pancreatic, and hepatic manifestations on early life is nearly ubiquitous. Conditions strongly linked with cystic fibrosis, such as meconium ileus and pancreatic insufficiency, must be recognized and treated early to optimize both short- and long-term care. Similarly, less specific conditions such as reflux, poor weight gain, and cholestasis are frequently encountered in infants with cystic fibrosis. In this population, these conditions may present unique challenges in which early interventions may have significant influence on both short- and long-term morbidity and mortality outcomes.

Do gap junctions play a role in nerve transmissions as well as pacing in mouse intestine?

Varicosities of nitrergic and other nerves end on deep muscular plexus interstitial cells of Cajal or on CD34-positive, c-kit-negative fibroblast-like cells. Both cell types connect to outer circular muscle by gap junctions, which may transmit nerve messages to muscle. We tested the hypotheses that gap junctions transmit pacing messages from interstitial cells of Cajal of the myenteric plexus. Effects of inhibitors of gap junction conductance were studied on paced contractions and nerve transmissions in small segments of circular muscle of mouse intestine. Using electrical field stimulation parameters (50 V/cm, 5 pps, and 0.5 ms) which evoke near maximal responses to nitrergic, cholinergic, and apamin-sensitive nerve stimulation, we isolated inhibitory responses to nitrergic nerves, inhibitory responses to apamin-sensitive nerves and excitatory responses to cholinergic nerves. 18beta-Glycyrrhetinic acid (10, 30, and 100 microM), octanol (0.1, 0.3, and 1 mM) and gap peptides (300 microM of (40)Gap27, (43)Gap26, (37,43)Gap27) all failed to abolish neurotransmission. 18beta-Glycyrrhetinic acid inhibited frequencies of paced contractions, likely owing to inhibition of l-type Ca(2+) channels in smooth muscle, but octanol or gap peptides did not. 18beta-Glycyrrhetinic acid and octanol, but not gap peptides, reduced the amplitudes of spontaneous and nerve-induced contractions. These reductions paralleled reductions in contractions to exogenous carbachol. Additional experiments with gap peptides in both longitudinal and circular muscle segments after N(G)-nitro-l-arginine and TTX revealed no effects on pacing frequencies. We conclude that gap junction coupling may not be necessary for pacing or nerve transmission to the circular muscle of the mouse intestine.