Further Delineation of Clinical Phenotype of ZMYND11 Variants in Patients with Neurodevelopmental Dysmorphic Syndrome.

Intellectual disability with speech delay and behavioural abnormalities, as well as hypotonia, seizures, feeding difficulties and craniofacial dysmorphism, are the main symptoms associated with pathogenic variants of the ZMYND11 gene. The range of clinical manifestations of the ZMYND phenotype is constantly being expanded by new cases described in the literature. Here, we present two previously unreported paediatric patients with neurodevelopmental challenges, who were diagnosed with missense variants in the ZMYND11 gene. It should be noted that one of the individuals manifested with hyperinsulinaemic hypoglycaemia (HH), a symptom that was not described before in published works. The reason for the occurrence of HH in our proband is not clear, so we try to explain the origin of this symptom in the context of the ZMYND11 syndrome. Thus, this paper contributes to knowledge on the range of possible manifestations of the ZMYND disease and provides further evidence supporting its association with neurodevelopmental challenges.

Pancreatic Involvement in the Course of Inflammatory Bowel Disease in Children-A Multi-Center Study.

The coexistence of inflammatory bowel disease (IBD) with pancreatic pathology is rare in children. A retrospective analysis of data from 1538 children diagnosed with IBD in 2014-2021 was conducted to determine the frequency and causes of pancreatitis and asymptomatic hyperlipasemia (HL) or hyperamylasemia (HA) in this group of patients. Among the 176 children (11.4%) with pancreatic involvement (PI), acute pancreatitis (AP) was diagnosed in 77 children (43.8%), and HA or HL was observed in 88 children (50.0%). Only a few patients were diagnosed with autoimmune or chronic pancreatitis (6.2%). PI was observed at the time of the IBD diagnosis in 26.1% of the cases. A total of 54.5% of the patients had moderate to severe IBD, and 96% had colonic involvement at the time of diagnosis of PI. Idiopathic PI was the most common (57%), followed by drug-induced PI (37%) and azathioprine (AZA). In patients with AZA-induced AP, the successful introduction of 6-mercaptopurine (6-MP) to therapy was noted in 62.5% of the children. Our results suggest that routine monitoring of pancreatic enzymes in patients with IBD should be performed, especially after the initiation of the AZA treatment. The presence of transient HA/HL in IBD does not necessarily indicate pancreatic pathology.

Sodium Butyrate Effectiveness in Children and Adolescents with Newly Diagnosed Inflammatory Bowel Diseases-Randomized Placebo-Controlled Multicenter Trial.

BACKGROUND: Butyric acid's effectiveness has not yet been assessed in the pediatric inflammatory bowel disease (IBD) population. This study aimed to evaluate the effectiveness of oral sodium butyrate as an add-on to standard therapy in children and adolescents with newly diagnosed IBD. METHODS: This was a prospective, randomized, placebo-controlled multicenter study. Patients aged 6-18 years with colonic Crohn's disease or ulcerative colitis, who received standard therapy depending on the disease's severity, were randomized to receive 150 mg sodium butyrate twice a day (group A) or placebo (group B). The primary outcome was the difference in disease activity and fecal calprotectin concentration between the two study groups measured at 12 weeks of the study. RESULTS: In total, 72 patients with initially active disease completed the study, 29 patients in group A and 43 in group B. At week 12 of the study, the majority of patients achieved remission. No difference in remission rate or median disease activity was found between the two groups (p = 0.37 and 0.31, respectively). None of the patients reported adverse events. CONCLUSIONS: A 12-week supplementation with sodium butyrate, as adjunctive therapy, did not show efficacy in newly diagnosed children and adolescents with IBD.

Assessment of Sequential and Standard Triple Therapy in Treatment of Helicobacter pylori Infection in Children Dependent on Bacteria Sensitivity to Antibiotics.

BACKGROUND: In the last decade a 10-day schema of sequential therapy of Helicobacter pylori infection based on proton pomp inhibitor (PPI), amoxicillin (AMO), clarithromycin (CLA) and metronidazole (MET) has been introduced. Many studies have emphasized greater efficacy of this therapy in comparison to the efficacy of the standard 7-day triple therapy (PPI + AMO + CLA or MET). OBJECTIVES: The aim of the study was to assess the sequential and standard triple therapy. MATERIAL AND METHODS: Sixty-nine children, aged 5 to 17 years, with symptoms of dyspepsia and gastric or duodenal ulcer were included in the study. The children were randomly divided into three groups. Group I - 23 children treated with PPI + AMO + CLA, group II - 23 children treated with PPI + AMO + MET, and group III - 23 children treated with sequential therapy. The diagnosis of Helicobacter pylori infection was based on histopathological evaluation of gastric mucosa sample and on culture. The sensitivity of bacterial strains to antibiotics was assessed based on E-tests. The efficacy of Helicobacter pylori eradication was assessed 6-8 weeks after the completion of the treatment. RESULTS: In children infected with Helicobacter pylori strains, which were sensitive to clarithromycin, the highest rate of eradication was obtained in the group treated with PPI + AMO + CLA (100%) and in the group treated with sequential therapy (90.48%), the lowest was in the group treated with PPI + AMO + MET. CONCLUSIONS: Efficiency of treatment of Helicobacter pylori infection in children depended on sensitivity of the strains to clarithromycin. Sensitivity to metronidazole did not influence significantly the eradication rate.