Search

Copyright of Tijdschrift Voor Kindergeneeskunde is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The sequencing of PCR amplicons is a core application of high-throughput sequencing technology. Using unique molecular identifiers (UMIs), individual amplified molecules can be sequenced to very high accuracy on an Illumina sequencer. However, Illumina sequencers have limited read length and are therefore restricted to sequencing amplicons shorter than 600 bp unless using inefficient synthetic long-read approaches. Native long-read sequencers from Pacific Biosciences and Oxford Nanopore Technologies can, using consensus read approaches, match or exceed Illumina quality while achieving much longer read lengths. Using a circularization-based concatemeric consensus sequencing approach (R2C2) paired with UMIs (R2C2 + UMI), we show that we can sequence an ∼550-nt antibody heavy chain (Immunoglobulin heavy chain - IGH) and an ∼1,500-nt 16S amplicons at accuracies up to and exceeding Q50 (<1 error in 100,000 sequenced bases), which exceeds accuracies of UMI-supported Illumina-paired sequencing as well as synthetic long-read approaches., (© The Author(s) 2024. Published by Oxford University Press on behalf of National Academy of Sciences.)

Celiac disease (CD) is known to be more prevalent in first-degree relatives of patients. In this retrospective cohort study of 609 relatives between 1994 and 2016, we investigated the effect of sex, HLA type, and age at time of index celiac diagnosis. Pearson's chi-square test and Kaplan-Meier survival analysis were used as statistical analyses. CD screening was carried out for 427 relatives (70%), resulting in a prevalence of 15%. HLA typing in 335 relatives showed HLA-DQ2/DQ8 positivity in 87.5%. In 63% of children and all parents, celiac disease was diagnosed at first screening. It was diagnosed significantly more often in females, HLA-DQ2 homozygosity, and children (all p < 0.05). In children aged 0-1 year at time of index diagnosis, celiac disease was diagnosed after consecutive screening in 58%, after 3.9 ± 2.5 (max 10) years (p < 0.001).Conclusion: Future screening policies for relatives of celiac patients should include retesting, especially in HLA-positive relatives younger than 10 years of age. In addition, one-time celiac-specific antibody testing alone could be sufficient to rule out the disease in adolescent siblings and parents of newly diagnosed celiac patients. What is Known: • Celiac disease is more prevalent in first-degree relatives of celiac patients (risk 3-12%). • HLA-DQ2 homozygous sisters/daughters are at highest risk (25%). What is New: • If younger than 10 years of age, repeated testing is necessary in HLA-DQ2/DQ8-positive first-degree relatives when celiac disease is diagnosed in a family. • One-time celiac-specific antibody testing alone could be sufficient to rule out the disease in adolescent siblings and parents of newly diagnosed celiac patients.

Hyperphosphorylation at tyrosine is commonly observed in tumor proteomes and, hence, specific phosphoproteins or phosphopeptides could serve as markers useful for cancer diagnostics and therapeutics. The analysis of such targets is, however, a challenging task, because of their commonly low abundance and the lack of robust and effective preconcentration techniques. As a robust alternative to the commonly used immunoaffinity techniques that rely on phosphotyrosine(pTyr)-specific antibodies, we have developed an epitope-imprinting strategy that leads to a synthetic pTyr-selective imprinted polymer receptor. The binding site incorporates two monourea ligands placed by preorganization around a pTyr dianion template. The tight binding site displayed good binding affinities for the pTyr template, in the range of that observed for corresponding antibodies, and a clear preference for pTyr over phosphoserine (pSer). In further analogy to the antibodies, the imprinted polymer was capable of capturing short tyrosine phosphorylated peptides in the presence of an excess of their non-phosphorylated counterparts or peptides phosphorylated at serine.

The positive role of benzodiazepines (Midazolam) in conscious sedation in pediatric patients is widely known. However, problems concerning the role of sedation in diagnostic upper endoscopy are a matter for debate as little is known about dosage and timing. We prospectively evaluated the efficacy, safety and optimal intravenous sedation dosage of midazolam in 257 consecutive patients, aged 2 months to 18 years old, who underwent upper endoscopy of the gastrointestinal tract. The initial midazolam dosage was 0.2 mg/kg Bw (Body weight) i.v. for 1 minute and, if necessary, another 0.1 mg/kg Bw was administered 5 minutes later. If sedation was sufficient, the procedure would be started 4-5 minutes later; if not, another 0.1 - 0.2 mg/kg Bw would be administered. All procedures were performed by a pediatrician together with a gastroenterologist. No serious complications occurred in any of the procedures. Oxygen saturation (OS) was maintained at over 90%, if necessary with blowby oxygen. Flumazenil was administered to 7 children (OS < 90%). Endoscopy could not be completed in 1 child. All endoscopies were completed within 10 minutes. No unexpected hospital admissions were necessary. The mean midazolam dosage was 0.4 mg/kg Bw in patients up to 6 years, for the over 6 years-olds the mean dosage was decreased to 0,2 mg/kg Bw. Particular attention was paid to the importance of informing patients before the procedure. Endoscopic diagnostic procedures can be performed safely and effectively in children with intravenous sedation in a well equipped pediatric endoscopy unit.

Two children, a girl aged 2 years and a boy aged 10 months, were moderately ill with signs of inflammation of the left and the right knee, respectively. Both had had pharyngitis, and the boy also had paronychia of the right foot. The Gram preparation of synovial fluid showed Gram-positive cocci in the girl, while Kingella kingae was cultured. In the boy, a Moraxella was cultured from the synovial fluid using an aerobic blood culture system. Both recovered without sequelae after adequate antibiotic treatment. The micro-organisms cultured were Gram-negative bacteria, which are rarely seen in septic arthritis and are difficult to demonstrate. In young children, septic arthritis often presents with mild symptoms and inconclusive laboratory findings. Even if the Gram preparation of the synovial fluid shows no micro-organisms, unusual pathogens may be isolated by means of an aerobic blood culture system.

A letter appearing in the AORN Journal questioned whether flash sterilization is appropriate for instruments coded with color identification tape. The reply stated that porous, colored tape required a longer time to penetrate and sterilize the area beneath, and thus if it should peel off, the zone beneath might not be sterile. This conclusion was, as far as we can determine, reached by intuitive reasoning and not by experimental evidence. Therefore, the following experimental approach was undertaken to test the hypothesis. Spores on discs were placed between the color-code tape and a metal instrument. Exposure to heat (135 degrees C) and time (3 min.) was in a gravity displacement sterilizer. We then determined whether spore kill has been achieved. The test organism was B. stearothermophilus. None of the discs that were in contact with the instruments while being sterilized showed any growth. Thus, it appears that sterility can be achieved on the instrument surfaces that are beneath color-code tape in three minutes.