[Phenotypic examination as well as variant id of a unborn infant with Joubert symptoms 17].

Author : Marquez Wilhelmsen | Published On : 22 Feb 2025

Surveillance post image-guided percutaneous liver biopsy in children is variable.

The aim of this study was to assess the value of 4-6-h post-procedure ultrasonography (US) in detecting post-liver-biopsy hemorrhage.

This prospective study included pediatric patients who underwent US-guided percutaneous liver biopsies. All children had a US study obtained pre-procedure and one obtained 4-6h post-procedure; US examinations were deemed positive if abnormalities were present. We also reviewed any subsequent imaging that was performed within 7days (late imaging) at the discretion of the referring team. Changes in US findings (ΔUS) were graded by two radiologists using a descriptive non-validated scale (none, minimal, marked). Hemoglobin (Hb) levels were assessed pre-procedure and 4h post-procedure. The diagnostic accuracy of US changes for detecting post-procedural hemorrhage was calculated based on a drop in Hb >1.5g/dL or Hb >15% from baseline (ΔHb). We used a Kruskal-Wallis test to correlate the ΔHb with ΔUS. Association between late-imaging and post-procedure US findings was tested using a chi-square test. selleck products We included 224 biopsies.

The sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of post-procedure US in detecting post-procedure hemorrhage ranged 26.3-42.1%, 72.4-93.3%, 0.22-0.42, and 0.87-0.88, respectively. No significant association was seen between the ΔHb and sonographic findings (P=0.068). No significant difference was seen in the need for late imaging between children who did and those who did not have positive US findings (P=0.814).

The sensitivity and PPV of post-procedure US in detecting post-procedural hemorrhage are low. Our findings do not support routine post-procedure surveillance US.
The sensitivity and PPV of post-procedure US in detecting post-procedural hemorrhage are low. Our findings do not support routine post-procedure surveillance US.Citing of previous publications is an important factor in knowledge development. Because of the great amount of publications available, only a selection of studies gets cited, for varying reasons. If the selection of citations is associated with study outcome this is called citation bias. We will study determinants of citation in a broader sense, including e.g. study design, journal impact factor or the funding source of the publication. As a case study we assess which factors drive citation in the human literature on phthalates, specifically the metabolite mono(2-ethylhexyl) phthalate (MEHP). A systematic literature search identified all relevant publications on human health effect of MEHP. Data on potential determinants of citation were extracted in duplo. Specialized software was used to create a citation network, including all potential citation pathways. Random effect logistic regression was used to assess whether these determinants influence the likelihood of citation. 112 Publications on MEHP were identified, with 5684 potential citation pathways of which 551 were actual citations. Reporting of a harmful point estimate, journal impact factor, authority of the author, a male corresponding author, research performed in North America and self-citation were positively associated with the likelihood of being cited. In the literature on MEHP, citation is mostly driven by a number of factors that are not related to study outcome. Although the identified determinants do not necessarily give strong indications of bias, it shows selective use of published literature for a variety of reasons.Mycopathogens are serious threats to the crops in commercial mushroom cultivations. In contrast, little is yet known on their occurrence and behaviour in nature. Cobweb infections by a conidiogenous Cladobotryum-type fungus identified by morphology and ITS sequences as Hypomyces odoratus were observed in the year 2015 on primordia and young and mature fruiting bodies of Agaricus xanthodermus in the wild. Progress in development and morphologies of fruiting bodies were affected by the infections. Infested structures aged and decayed prematurely. The mycoparasites tended by mycelial growth from the surroundings to infect healthy fungal structures. They entered from the base of the stipes to grow upwards and eventually also onto lamellae and caps. Isolated H. odoratus strains from a diseased standing mushroom, from a decaying overturned mushroom stipe and from rotting plant material infected mushrooms of different species of the genus Agaricus while Pleurotus ostreatus fruiting bodies were largely resistant. Growing and grown A. xanthodermus and P. ostreatus mycelium showed degrees of resistance against the mycopathogen, in contrast to mycelium of Coprinopsis cinerea. Mycelial morphological characteristics (colonies, conidiophores and conidia, chlamydospores, microsclerotia, pulvinate stroma) and variations of five different H. odoratus isolates are presented. In pH-dependent manner, H. odoratus strains stained growth media by pigment production yellow (acidic pH range) or pinkish-red (neutral to slightly alkaline pH range).
To investigate the potential etiologies of premature ovarian insufficiency (POI) and diminished ovarian reserve (DOR).

Fourteen women with sporadic POI and 6 women with DOR were enrolled. We used whole-exome sequencing (WES) and bioinformatics analysis to identify variants in a subset of 599 selected POI candidate genes. The identified genes were subjected to gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment and protein-protein interaction (PPI) network analyses to uncover key genes and pathways.

Among the 20 patients, 79 heterozygous variants were detected in 49 genes, which were classified as "likely pathogenic" or "variants of uncertain significance" according to the guidelines of the American College of Medical Genetics and Genomics. Most patients (17/20) carried two or more variants. Monoacylglycerol O-acyltransferase 1 mutations were found in six patients, and cytochrome P450 family 26 subfamily B member 1 and Bardet-Biedl syndrome 9 mutations were each found in four patients. Some variants were shared between DOR and POI. Enrichment analyses showed that the identified genes participate in key ovarian processes, such as follicular development, gonadal development, meiosis, Fanconi anemia, homologous recombination, and transforming growth factor β signaling. A PPI network revealed interactions between these proteins.

Premature ovarian function decline may be polygenic, and overlap exists between the genetic backgrounds of DOR and POI. WES and in silico analyses may be a useful clinical tool for etiological diagnosis and risk prediction for high-risk women in the future.
Premature ovarian function decline may be polygenic, and overlap exists between the genetic backgrounds of DOR and POI. WES and in silico analyses may be a useful clinical tool for etiological diagnosis and risk prediction for high-risk women in the future.