The aim of this study was to evaluate rates of clinical remission, endoscopic remission, and mucosal healing after a 6-week treatment period with partial enteral nutrition (PEN) and to compare them ...to those obtained by standard exclusive enteral nutrition (EEN) treatment in children with active Crohn’s disease (CD). Twenty-five patients with active CD (median age 13.6 years, range 3.6–18.0) were recruited to either PEN (
n
= 12) or EEN (
n
= 13) treatment groups. The PEN group received 75% of their dietary needs from a polymeric formula plus one meal per day from an anti-inflammatory diet (AID). Patients were assessed at weeks 0, 1, 3, and 6 using clinical and laboratory parameters. Endoscopic assessment was performed at induction and week 6. On intention to treat analysis, clinical remission (Pediatric CD Activity Index < 10) was achieved in 69.2% and 75.0% of EEN and PEN patients, respectively (
p =
0.999). The endoscopic remission (Simple Endoscopic Score for CD (SES-CD) ≤ 2) rates were 45.5% in both groups, while mucosal healing rates (SES-CD = 0) were 45.5% with EEN and 27.3% with PEN (
p =
0.659).
Conclusion
: The results of our prospective pilot study suggest that PEN, allowing one meal from AID, could be as effective as EEN in inducing clinical and endoscopic remission in children with active CD. However, larger randomized controlled studies are warranted to confirm our findings.
Trial registration
: This clinical trial was registered under the number
ClinicalTrials.gov
identifier: NCT03176875
.
What is Known
:
•
Exclusive enteral nutrition is a first-line treatment in active pediatric Crohn’s disease; however, patients often find it difficult to adhere to
.
•
Exclusive enteral nutrition is more effective than corticosteroids in achieving mucosal healing.
What is New
:
•
This is the first prospective study on partial enteral nutrition in active pediatric Crohn’s disease, evaluating not only clinical, but also endoscopic remission
.
•
A novel approach of partial enteral nutrition that allows one meal per day from an anti-inflammatory diet was as effective as exclusive enteral nutrition in inducing clinical and endoscopic remission in active Crohn’s disease
.
Background and Objectives: The prevalence of pediatric non-alcoholic fatty liver disease is increasing. A lot of new data are published regularly. Materials and Methods: Original clinical studies, ...review articles, and guidelines in children were searched for and the most relevant included in this review. Results: A total of 138 retrieved papers were classified into pathogenesis, epidemiology, diagnosis, and treatment. Pathogenesis is currently explained with the “multi hit hypothesis”, with complex interactions of genetic and environmental factors which trigger inflammation in steatotic liver. The prevalence is rising. A diagnosis can be made with laboratory tests, imaging, and liver biopsy after the exclusion of other causes of liver steatosis. The mainstay of treatment is lifestyle modification consisting of dietary intervention and increased physical activity. The progression to liver cirrhosis can occur even in children. Conclusions: Non-alcoholic fatty liver disease in children is a part of a metabolic syndrome in the majority of patients. Due to its complex etiology and high prevalence, multidisciplinary teams, together with public health professionals, should be involved in its treatment.
Endoscopic ultrasound-guided fine needle aspiration biopsy (EUS FNAB) is a well established diagnostic method in adult patients, but is rarely used in the paediatric population. The Clinical ...Department of Gastroenterology at the University Clinical Centre Ljubljana and the Department of Cytopathology at the Institute of Pathology, Faculty of Medicine, University of Ljubljana, Slovenia, have been closely collaborating on EUS FNAB since the introduction in 2010. The aim of the study was to review the cases of EUS FNAB of pancreatic neoplasms in children.
In the digital archive of the Institute of Pathology (IP), Faculty of Medicine (FM), University of Ljubljana (UL), we found 6 cases of EUS FNAB in children, 3 had EUS FNAB of the pancreas, 2 of whom had a cytopathologic diagnosis of a tumour. In the first case, the lesion was ultrasonographically solid, and the cell sample contained branching papillary structures surrounded by aggregates of small cells with nuclear grooves. In the second case, the lesion was ultrasonographically cystic, and predominantly necrosis was seen, with only single preserved cells. Positive nuclear reaction for β-catenin was found in both cases by immunohistochemical staining.
In both cases, the cytopathological diagnosis of solid pseudopapillary neoplasm of the pancreas was made, the cases represent the totality of paediatric cases of pancreatic neoplasms from the Children's Hospital Ljubljana since 2010. There were no adverse events during and after EUS FNAB. A histopathological examination of the tumour resection specimens confirmed the cytopathological diagnosis.
Our experience indicates that EUS FNAB is a safe and effective method for diagnosing pancreatic neoplasms in the pediatric population, as supported by the findings in the literature.
Objective: A prospective trial suggests target infliximab trough levels of 3-7 μg/mL, yet data on additional therapeutic benefits and safety of higher trough levels are scarce.
Aim: To explore ...whether high infliximab trough levels (≥7 μg/mL) are more effective and still safe.
Material and methods: In this cohort study of 183 patients (109 Crohn's disease and 74 ulcerative colitis) on infliximab maintenance treatment at a tertiary referral center we correlated fecal calprotectin and C-reactive protein to trough levels (426 samples) at different time points during treatment. Rates of infections were compared in quadrimesters (four-month periods) with high trough levels to quadrimesters with trough levels <7 μg/mL during 420 patient-years.
Results: Fecal calprotectin and C-reactive protein (median interquartile range) were lower in patients with high trough levels (fecal calprotectin 66 mg/kg 30-257; C-reactive protein 3 mg/L 3-3) compared to trough levels below 7 μg/mL (fecal calprotectin 155 mg/kg 72-474; C-reactive protein 3 mg/L 3-14.5) (p < .001). High trough levels were superior also after excluding samples with trough levels <3 μg/mL from analysis. No differences in rates of infections were observed in quadrimesters with high trough levels (16/129 12.4%) compared to quadrimesters with trough levels <7 μg/mL (32/344 9.3%) (p = .32). Maintaining high trough levels resulted in 32% (interquartile range: 2-54%) increase of infliximab consumption.
Conclusion: High infliximab trough levels provide better control of inflammation in inflammatory bowel disease without increasing the risk of infection.
Phosphoribosylpyrophosphate synthetase 1 (PRSI) is an enzyme involved in nucleotide metabolism. Pathogenic variants in the PRPS1 are rare and PRS-I deficiency can manifest as three clinical ...syndromes: X-linked non-syndromic sensorineural deafness (DFN2), X-linked Charcot-Marie-Tooth neuropathy type 5 (CMTX5) and Arts syndrome. We present a Slovenian patient with PRS-I enzyme deficiency due to a novel pathogenic variant – c.424G > A (p.Val142Ile) in the PRPS1 gene, who presented with gross motor impairment, severe sensorineural deafness, balance issues, ataxia, and frequent respiratory infections. In addition, we report the findings of a systemic literature review of all described male cases of Arts syndrome and CMTX5 as well as intermediate phenotypes. As already proposed by other authors, our results confirm PRS-I deficiency should be viewed as a phenotypic continuum rather than three separate syndromes because there are multiple reports of patients with an intermediary clinical presentation.
Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism that leads to severe liver, kidney, and neurological dysfunction. Newborn screening (NBS) can enable a timely diagnosis and early ...initiation of treatment.
We presented the follow up of the only two Slovenian patients diagnosed with HT1. Metabolic control was monitored by measuring tyrosine, phenylalanine and succinylacetone from dried blood spots (DBSs). Retrograde screening of HT1 was performed from DBSs taken at birth using tandem mass spectrometry.
First patient was diagnosed at the age of 6 months in the asymptomatic phase due to an abnormal liver echogenicity, the other presented at 2.5 months with an acute liver failure and needed a liver transplantation. The first was a compound heterozygote for a novel FAH intronic variant c.607-21A>G and c.192G>T whereas the second was homozygous for c.192G>T. At the non-transplanted patient, 66% of tyrosine and 79% of phenylalanine measurements were in strict reference ranges of 200–400 μmol/L and >30 μmol/L, respectively, which resulted in a favorable cognitive outcome at 3.6 years. On retrograde screening, both patients had elevated SA levels; on the other hand, tyrosine was elevated only at one.
We showed that non-coding regions should be analyzed when clinical and biochemical markers are characteristic of HT1. DBSs represent a convenient sample type for frequent amino acid monitoring. Retrograde diagnosis of HT1 was possible after more than three years of birth with SA as a primary marker, complemented by tyrosine.
•Non-coding region variants of FAH gene can result in a symptomatic HT1.•Retrograde screening for HT1 is technically possible even three years after birth.•DBS are convenient for monitoring HT1 patients and are family-friendly.•Regular monitoring in HT1 patients can result in a favorable cognitive outcome.
Genetic polymorphisms in genes coding for inflammasome components
and
have been associated with autoinflammatory and autoimmune diseases. On the other hand several studies suggested that NLRP3 ...inflammasome contributes to maintenance of gastrointestinal immune homeostasis and that activation of NLRP3 is regulated by protein tyrosine phosphatase non-receptor 22 (PTPN22).
polymorphism was implicated in the risk for various autoimmune diseases including type 1 diabetes (T1D) but not for celiac disease (CD). The aim of our study was to evaluate the role of inflammasome related polymorphisms in subjects with either T1D or CD as well as in subjects affected by both diseases. We examined
rs2476601 (p.Arg620Trp),
rs35829419 (p.Gln705Lys), and
rs2043211 (p.Cys10Ter) in 66 subjects with coexisting T1D and CD, 65 subjects with T1D who did not develop CD, 67 subjects diagnosed only with CD and 127 healthy unrelated Slovenian individuals. All results were adjusted for clinical characteristic and human leukocyte antigen (HLA) risk.
rs2476601 allele was significantly more frequent among subjects with T1D (P
= 0.001) and less frequent in subjects with CD (P
= 0.039) when compared to controls. In patients with coexisting T1D and CD this variant was significantly less frequent compared to T1D group (P
= 0.010). Protective effect on CD development in individuals with T1D was observed only within the low risk HLA group. On the other hand, we found no association of
rs35829419 and
rs2043211 with the development of T1D, CD or both diseases together. In conclusion
rs2476601polymorphism was significantly associated with the risk of developing T1D in Slovenian population, while no associations of proinflammatory
and
polymorphisms with T1D and CD were observed. Interestingly, the same
variant protected from CD. We hypothesize that this effect may be mediated through the NLRP3 inflammasome activation.
Background: The aim of the present study was to assess whether formula supplementation of infants with failure to thrive can improve underweight without jeopardizing breast‐feeding.
Methods: In a ...prospective intervention study 31 term exclusively breast‐fed infants were studied, who were admitted to hospital at an age of 28–99 days with failure to thrive (≤40% expected weight gain for age and/or bodyweight ≤10th percentile for age) without underlying disease. Infant formula was offered ad libitum after each breast‐feeding, while continued breast‐feeding was supported.
Results: Energy intake per day increased from 352 ± 111 kJ/kg (mean ± SD) at study start to 587 ± 115 kJ/kg (P < 0.001, days 1–3 of supplementation) and 501 ± 99 kJ/kg (days 29–31; P < 0.001 vs study entry). Twenty‐five infants continued to be partially (n = 21) or fully (n = 4) breast‐fed. Human milk intake decreased from 476 ± 163 g/day (study days 1–3) to 349 ± 285 g/day (study days 29–31; P < 0.01). The contribution of breast milk to total milk intake decreased from 100% to 42 ± 35% (P < 0.001). Supplementation over 31 days led to increased weight (0.98 0.70, standard deviation scores SDS), length (+0.40 0.41 SDS) and head circumference (+0.59 0.93 SDS).
Conclusions: One month of formula supplementation successfully improved growth in 72% of infants with failure to thrive on human milk feeding. Breast‐feeding was maintained in 81% of infants.
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