Comparison of dwell time and complications between peripheral venous catheters and midline catheters in infants weighing ≥ 1500 g at birth.

BACKGROUND: Newborns in the neonatal intensive care unit (NICU) often require infusion therapy immediately after admission. In such cases, the catheter must be selected according to the condition of the neonate. The aim of this study was to compare the performance of a peripheral venous catheter (PVC) in terms of dwell time, number of catheter replacements required, and complication rate with that of a midline catheter (MC) in neonates weighing ≥1500 g and requiring care in a NICU. METHODS: The study had a retrospective observational design and included neonates with a birthweight of ≥1500 g who were admitted to a level III NICU between April 2019 and May 2021 and received infusion therapy via a PVC or MC. Patient, maternal, and infusion-related data were collected from the medical records. The outcomes were compared between the PVC and MC groups according to type of catheter used. RESULTS: Univariate analyses of the infusion-related data demonstrated that neonates in the MC group (n = 52) had significantly longer dwell times, required fewer catheter replacements, and had a greater probability of completing therapy with less risk of extravasation than those in the PVC group (n = 54). CONCLUSION: These findings confirm that the MC has advantages over the PVC, including a longer dwell time, fewer catheter replacements, and less risk of extravasation in newborns with a birthweight of ≥1500 g.

Four conserved amino acids on human papillomavirus E6 predict clinical high-risk types.

Human papillomavirus (HPV) types included in the genus alpha papillomavirus (alpha-HPVs) are subdivided into high- and low-risk HPVs associated with tumorigenicity. According to conventional risk classification, over 30 alpha-HPVs remain unclassified and HPV groups phylogenetically classified using the L1 gene do not exactly correspond to the conventional risk classification groups. Here, we propose a novel cervical lesion progression risk classification strategy. Using four E6 risk distinguishable amino acids (E6-RDAAs), we successfully expanded the conventional classification to encompass alpha-HPVs and resolve discrepancies. We validated our classification system using alpha-HPV-targeted sequence data of 325 cervical swab specimens from participants in Japan. Clinical outcomes significantly correlated with the E6-RDAA classification. Four of five HPV types in the data set that were not conventionally classified (HPV30, 34, 67, and 69) were high-risk according to our classification criteria. This report sheds light on the carcinogenicity of rare genital HPV types using a novel risk classification strategy.

Identification of unique DNA methylation sites in Kabuki syndrome using whole genome bisulfite sequencing and targeted hybridization capture followed by enzymatic methylation sequencing.

BACKGROUND: Kabuki syndrome (KS) is a congenital malformation syndrome caused by mutations in the KMT2D and KDM6A genes that encode histone modification enzymes. Although KS is considered a single gene disorder, its symptoms vary widely. Recently, disease-specific DNA methylation patterns, or episignatures, have been recognized and used as a diagnostic tool for KS. Because of various crosstalk mechanisms between histone modifications and DNA methylation, DNA methylation analysis may have high potential for investigations into the pathogenesis of KS. RESULTS: In this study, we investigated altered CpG-methylation sites that were specific to KS to find important genes associated with the various phenotypes or pathogenesis of KS. Whole genome bisulfite sequencing (WGBS) was performed to select target CpG islands, and enzymatic conversion technology was applied after hybridization capture to confirm KS-specific episignatures of 130 selected differently methylated target regions (DMTRs) in DNA samples from the 65 participants, 31 patients with KS and 34 unaffected individuals, in this study. We identified 26 candidate genes in 22 DMTRs that may be associated with KS. Our results indicate that disease-specific methylation sites can be identified from a small number of WGBS samples, and hybridization capture followed by enzymatic methylation sequencing can simultaneously test the sites. CONCLUSIONS: Although DNA methylation can be tissue-specific, our results suggest that methylation profiling of DNA extracted from peripheral blood may be a powerful approach to study the pathogenesis of diseases.

Leukopenia, macrocytosis, and thrombocytopenia occur in young adults with Down syndrome.

Down syndrome (DS) is a common congenital disorder caused by trisomy 21. Due to the increase in maternal age with population aging and advances in medical treatment for fatal complications in their early childhood, the prevalence and life expectancy of DS individuals have greatly increased. Despite this rise in the number of DS adults, their hematological status remains poorly examined. Here, we report that three hematological abnormalities, leukopenia, macrocytosis, and thrombocytopenia, develop as adult DS-associated features. Multi- and uni-variate analyses on hematological data collected from 51 DS and 60 control adults demonstrated that young adults with DS are at significantly higher risk of (i) myeloid-dominant leukopenia, (ii) macrocytosis characterized by high mean cell volume (MCV) of erythrocytes, and (iii) lower platelet counts than the control. Notably, these features were more pronounced with age. Further analyses on DS adults would provide a deeper understanding and novel research perspectives for multiple aging-related disorders in the general population.

KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup).

Heterozygous pathogenic variants in the KAT6B gene, which encodes lysine acetyltransferase 6B, have been identified in patients with congenital rare disorders, including genitopatellar syndrome and Say-Barber-Biesecker-Young-Simpson syndrome. Herein, we report another Japanese patient with a KAT6B-related disorder and a novel de novo heterozygous variant in exon 18 of KAT6B [c.3925dup, p.(Glu1309fs*33)], providing further evidence that truncating variants in exon 17 and in the proximal region of exon 18 are associated with genitopatellar syndrome-like phenotypes.

A neonatal case of Japanese spotted fever.

We herein present the case of a 28-day-old female with Japanese spotted fever, who is the youngest reported patient so far. Tick-borne diseases, including Japanese spotted fever, should be included in the differential diagnosis of eruptive fever even in neonates because a treatment delay can lead to a fatal outcome.