Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome

We present a preterm-born girl with polydactyly of both hands and massive hydrometrocolpos, the latter due to vaginal atresia. This association led initially to the diagnosis of McKusick-Kaufman syndrome (MKKS). However, additional features, including characteristic radiographic findings of the hands and a large hypothalamic tumour, presumably a hamartoma, favoured the diagnosis of Pallister-Hall syndrome (PHS), which was then genetically confirmed by detection of a GLI3 mutation (Q717X). This is the second genetically confirmed case revealing the previously described association of PHS with hydrometrocolpos due to vaginal atresia as a clinical overlap with MKK

The mycobacterial DNA-binding protein 1 (MDP1) from Mycobacterium bovis BCG influences various growth characteristics

<p>Abstract</p> <p>Background</p> <p>Pathogenic mycobacteria such as <it>M. tuberculosis</it>, <it>M. bovis </it>or <it>M. leprae </it>are characterised by their extremely slow growth rate which plays an important role in mycobacterial virulence and eradication of the bacteria. Various limiting factors influence the generation time of mycobacteria, and the mycobacterial DNA-binding protein 1 (MDP1) has also been implicated in growth regulation. Our strategy to investigate the role of MDP1 in mycobacterial growth consisted in the generation and characterisation of a <it>M. bovis </it>BCG derivative expressing a MDP1-antisense gene.</p> <p>Results</p> <p>The expression rate of the MDP1 protein in the recombinant <it>M. bovis </it>BCG containing the MDP1-antisense plasmid was reduced by about 50% compared to the reference strain <it>M. bovis </it>BCG containing the empty vector. In comparison to this reference strain, the recombinant <it>M. bovis </it>BCG grew faster in broth culture and reached higher cell masses in stationary phase. Likewise its intracellular growth in mouse and human macrophages was ameliorated. Bacterial clumping in broth culture was reduced by the antisense plasmid. The antisense plasmid increased the susceptibility of the bacteria towards Ampicillin. 2-D protein gels of bacteria maintained under oxygen-poor conditions demonstrated a reduction in the number and the intensity of many protein spots in the antisense strain compared to the reference strain.</p> <p>Conclusion</p> <p>The MDP1 protein has a major impact on various growth characteristics of <it>M. bovis </it>BCG. It plays an important role in virulence-related traits such as aggregate formation and intracellular multiplication. Its impact on the protein expression in a low-oxygen atmosphere indicates a role in the adaptation to the hypoxic conditions present in the granuloma.</p

Novel Synthetic Opioids (NSO) Use in Opioid Dependents Entering Detoxification Treatment

© 2022 Specka, Kuhlmann, Bonnet, Sawazki, Schaaf, Kühnhold, Steinert, Grigoleit, Eich, Zeiske, Niedersteberg, Steiner, Schifano and Scherbaum. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). https://creativecommons.org/licenses/by/4.0/Introduction: Over the last decade, the use of New/Novel Synthetic Opioids (NSO) has emerged as an increasing problem, and especially so in the USA. However, only little is known about the prevalence and history of NSO use in European heroin dependents. Method: A cross-sectional multicenter study, carried out with the means of both standardized interviews and urine toxicology enhanced screening, in a sample of opioid addicted patients referred for an in-patient detoxification treatment. Results: Sample size included here n = 256 patients; prior to admission, 63.7% were prescribed with an opioid maintenance treatment. Lifetime use of heroin and opioid analgesics was reported by 99.2 and 30.4%, respectively. Lifetime NSO/fentanyl use was reported by 8.7% (n = 22); a regular use was reported by 1.6% (n = 4), and ingestion over the 30 days prior to admission by 0.8% (n = 2). Most typically, patients had started with a regular consumption of heroin, followed by maintenance opioids; opioid analgesics; and by NSO. Self-reported data were corroborated by the toxicology screenings carried out; no evidence was here identified for the presence of heroin being contaminated by fentanyl/derivatives. Discussion: NSO and also opioid analgesics did not play a relevant role in the development and the course of opioid/opioid use disorders in German patients referred for an inpatient detoxification treatment.Peer reviewe

Die Getreideversorgung und die navicularii

Rohde D. Die Getreideversorgung und die navicularii. In: Wojciech K, Eich P, eds. Die Verwaltung der Stadt Rom in der Hohen Kaiserzeit. Formen der Kommunikation, Interaktion und Vernetzung. Antike Imperien . Vol 2. Paderborn: Ferdinand Schöningh; 2018: 145–165

Imbalance and Isolation: How Team Configurations Affect Global Knowledge Sharing

This study investigates knowledge sharing in globally dispersed teams with distinctive geographical and cultural configurations. We provide fresh insights by contrasting international business and social identity theory and suggest that configurational asymmetries, namely imbalance and isolation, affect team members' average perceptions of knowledge sharing processes and outcomes. We test our hypotheses in the context of a multinational software corporation, drawing on a sample of 171 responses from team-members of 40 nationalities in 45 locations. Supporting social identity theory, our results show that our configurational variables – geographical and cultural imbalance – negatively affect knowledge sharing. The highest negative impact is observed in teams with geographically or culturally isolated members. Interestingly, we find no adverse effects of cultural and geographical distance (separation) that have been in the center of a large stream of research in international business

Gemeinsam stärker

Arbeiten in globalen Teams ist für die meisten Manager Alltag. Damit der Wissenstransfer gelingt, müssen Führungskräfte vor allem der Isolation von Teammitgliedern vorbeugen

Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome : a clinical overlap with McKusick-Kaufman syndrome

We present a preterm-born girl with polydactyly of both hands and massive hydrometrocolpos, the latter due to vaginal atresia. This association led initially to the diagnosis of McKusick-Kaufman syndrome (MKKS). However, additional features, including characteristic radiographic findings of the hands and a large hypothalamic tumour, presumably a hamartoma, favoured the diagnosis of Pallister-Hall syndrome (PHS), which was then genetically confirmed by detection of a GLI3 mutation (Q717X). This is the second genetically confirmed case revealing the previously described association of PHS with hydrometrocolpos due to vaginal atresia as a clinical overlap with MKKS

Light therapy glasses during night shift work: a field study

Background Night shift work leads to severe short- and long-term side effects, posing a risk to personal and occupational safety. Objective This study aimed to test the effects of blue-enriched light-emitting glasses on sleepiness, alertness, and sustained attention during the early morning hours of night shift work. Methods To remedy the risks of reduced alertness, sustained attention, and increased sleepiness in a single-blind study design, Luminette® 3 (Lucimed SA, Wavre, Belgium) glasses emitting blue-enriched light (BL) were tested from 05:00 to 05:30 during night shift work in 21 participants at a sleep laboratory, and the effects were compared with those of glasses emitting sham dim red light (DRL). Sleepiness was rated hourly from 21:00 to 07:30 using the Karolinska Sleepiness Scale, while alertness was assessed using the PC Psychomotor Vigilance Task before and after the intervention. At the end of the night shift, sustained attention (using the computerized Mackworth Clock Test), comfort ratings, and fatigue were measured. Statistical analyses were conducted using the Friedman and Wilcoxon signed-rank tests. Results Sleepiness increased significantly throughout the night and was not significantly reduced after the intervention, with a more prolonged reduction using BL. Compared with using DRL, using BL revealed no clear benefit in terms of alertness or sustained attention, yet comfort ratings were slightly better, without any negative side effects. Conclusion In the current study, BL glasses were not clearly superior to DRL glasses in ameliorating the negative side effects of night shift work. Despite some limitations, however, this field study showed high ecological validity and demonstrated the convenient use of an intervention that is easy to implement in a realistic workplace setting

Field and mesocosm methods to test biodegradable plastic film under marine conditions.

The pollution of the natural environment, especially the world's oceans, with conventional plastic is of major concern. Biodegradable plastics are an emerging market bringing along potential chances and risks. The fate of these materials in the environment and their possible effects on organisms and ecosystems has rarely been studied systematically and is not well understood. For the marine environment, reliable field test methods and standards for assessing and certifying biodegradation to bridge laboratory respirometric data are lacking. In this work we present newly developed field tests to assess the performance of (biodegradable) plastics under natural marine conditions. These methods were successfully applied and validated in three coastal habitats (eulittoral, benthic and pelagic) and two climate zones (Mediterranean Sea and tropical Southeast Asia). Additionally, a stand-alone mesocosm test system which integrated all three habitats in one technical system at 400-L scale independent from running seawater is presented as a methodological bridge. Films of polyhydroxyalkanoate copolymer (PHA) and low density polyethylene (LD-PE) were used to validate the tests. While LD-PE remained intact, PHA disintegrated to a varying degree depending on the habitat and the climate zone. Together with the existing laboratory standard test methods, the field and mesocosm test systems presented in this work provide a 3-tier testing scheme for the reliable assessment of the biodegradation of (biodegradable) plastic in the marine environment. This toolset of tests can be adapted to other aquatic ecosystems