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G-character tables of a finite group G were defined in Felipe et al. (Quaest Math, 2022. ). These tables can be very useful to obtain certain structural information of a normal subgroup from the character table of G. We analyze certain structural properties of normal subgroups which can be determined using their G-character tables. For instance, we prove an extension of the Thompson’s theorem from minimal G-invariant characters of a normal subgroup. We also obtain a variation of Taketa’s theorem for hypercentral normal subgroups considering their minimal G-invariant characters. This generalization allows us to introduce a new class of nilpotent groups, the class of nMI-groups, whose members verify that its nilpotency class is bounded by the number of irreducible character degrees of the group. [ABSTRACT FROM AUTHOR]

This study provides a comparison of hydrothermal carbonization (HTC) char, starting from two different species of waste seaweed, namely the green algae Ulva pertusa and the brown algae Sargassum horneri. The effect of reaction temperature (180 ~ 250 ℃), biomass residence time (1 ~ 6 h), and water mass ratio (1 ~ 10) on HTC yield (38 ~ 57%) was investigated. Surface area (5 ~ 52 m2 g−1), methylene blue removal efficiency (71 ~ 99%), methylene blue adsorption capacity (11 ~ 88%), and hydrochar composition have been assessed. An increasing residence time and HTC temperature led to an increase in surface area up to a maximum of 51 m2 g−1, while the yield in HTC hydrochar decreased around 35% for both HC. The van Krevelen diagram was extended to compare the variation in elemental composition of the waste seaweed derived hydrochars. Results of the methylene blue adsorption experiments are best described by a Langmuir model with maximal adsorption capacity values of 112 ± 7.63 mg g−1 for the Sargassum based char, produced at 180 ℃, with water/biomass ratio of 5 and 4 h residence time. [ABSTRACT FROM AUTHOR]

Much of the existing research on organized crime in Africa has emphasised its development and proliferation from state and security perspectives. Such research often relies upon inflated facts for captivating public attention, is fuelled by sensationalist media reports and draws from conceptualisations that give an incomplete picture of the significance of illicit activities, both for the state and their role in enabling and sustaining people's livelihoods. In contrast, this special issue proposes that more empirical research and analysis is needed to reveal the disjunctures between state and on-the-ground perceptions. Greater attention to a bottom-up vision of illicit activities can demonstrate how defining and understanding these practices through such binary terms as legal/illegal does not necessarily indicate how those engaged in them perceive them. Through bringing together a range of contributions from different disciplinary, theoretical and empirical perspectives, this special issue explores the space between official, policy-driven narratives of crime and the realities of the everyday nature of these practices, in a bid to rethink and challenge the 'organized crime' lens through which these activities are increasingly framed. [ABSTRACT FROM AUTHOR]

Niger's status as a 'hub' for West African migration is now cemented in the imaginaries of interveners and global observers. Even as the number of migrants transiting the country falls sharply from a peak in 2015, the policies and practices on the part of the Nigerien government, its local partners, and international actors, continue to coalesce around irregular migration as a major security priority. This mostly repressive approach to irregular migration has had knock-on effects on livelihoods in Northern Niger, where the bulk of the economy around transiting migration is rooted. While the story of criminalization and securitization in Niger is a well-worn one, there is less attention to some of the ways these processes are incremental, erratic, incomplete, ambiguous, and contested. This article argues that once we consider the voices of market insiders in the smuggling economy alongside those in the security and intervention sector, these narratives point to the fundamentally ambiguous status of the migration economy between the licit and illicit, the legal and the illegal. To capture this ambiguity, the article draws on the concept of quasilegality, which captures the in-between status of the flows in question, and in particular the conceptual space between the licit/illicit and legal/illegal binaries. Quasilegality points to three salient factors in contesting the straightforward narrative of criminalization in Niger: a gap between the social acceptability of smuggling and state legal frameworks, the ambiguity of the state legal framework and its application, as well as market insiders' own understanding of their activities. The article's attention to narratives around migration, crime, and (in)security in Niger is at once a means of complicating the smoothness of security and control as well as a broader critique of views of migration in Niger that would see it as a straightforward example of 'transnational organized crime' in West Africa. [ABSTRACT FROM AUTHOR]

Surface antigenic variation is crucial for major pathogens that infect humans. To escape the immune system, they exploit various mechanisms. Understanding these mechanisms is important to better prevent and fight the deadly diseases caused. Those used by the fungus Pneumocystis jirovecii that causes life-threatening pneumonia in immunocompromised individuals remain poorly understood. Here, though this fungus is currently not cultivable, our detailed analysis of the subtelomeric sequence motifs and genes encoding surface proteins suggests that the system involves the reassortment of the repertoire of ca. 80 non-expressed genes present in each strain, from which single genes are retrieved for mutually exclusive expression. Dispersion of the new repertoires, supposedly by healthy carrier individuals, appears very efficient because identical alleles are observed in patients from different countries. Our observations reveal a unique strategy of antigenic variation. They also highlight the possible role in genome rearrangements of small imperfect mirror sequences forming DNA triplexes. Here the authors find that surface antigenic variation of the human pathogenic fungus Pneumocystis jirovecii involves mosaicism and reassortment of the repertoire of 80 genes present in each strain, from which single genes are retrieved for mutually exclusive expression. [ABSTRACT FROM AUTHOR]

A new series of 3-acetyl-1,3,4-oxadiazoline hybrid molecules was designed and synthesized using a condensation between acyclonucleosides and substituted phenylhydrazone. All intermediates and final products were screened against Leishmania donovani, a Protozoan parasite and against three viruses SARS-CoV-2, HCMV and VZV. While no significant activity was observed against the viruses, the intermediate with 6-azatymine as thymine and 5-azathymine-3-acetyl-1,3,4-oxadiazoline hybrid exhibited a significant antileishmanial activity. The later compound was the most promising, exhibiting an IC50 value at 8.98 µM on L. donovani intramacrophage amastigotes and a moderate selectivity index value at 2.4. [ABSTRACT FROM AUTHOR]

The pentavalent meglumine antimoniate (MA) is still a first-line drug in the treatment of leishmaniasis in several countries. As an attempt to elucidate its mechanism of action and develop new antimonial drugs with improved therapeutic profile, Sb(V) complexes with different ligands, including β-cyclodextrin (β-CD), nucleosides and non-ionic surfactants, have been studied. Interestingly, Sb(V) oxide, MA, its complex with β-CD, Sb(V)-guanosine complex and amphiphilic Sb(V) complexes with N-alkyl-N-methylglucamide, have shown marked tendency to self-assemble in aqueous solutions, forming nanoaggregates, hydrogel or micelle-like nanoparticles. Surprisingly, the resulting assemblies presented in most cases slow dissociation kinetics upon dilution and a strong influence of pH, which impacted on their pharmacokinetic and therapeutic properties against leishmaniasis. To explain this unique property, we raised the hypothesis that multiple pnictogen bonds could contribute to the formation of these assemblies and their kinetic of dissociation. The present article reviews our current knowledge on the structural organization and physicochemical characteristics of Sb-based supramolecular assemblies, as well as their pharmacological properties and potential for treatment of leishmaniasis. This review supports the feasibility of the rational design of new Sb(V) complexes with supramolecular assemblies for the safe and effective treatment of leishmaniasis. [ABSTRACT FROM AUTHOR]

The reconstruction of liquid–air interfaces in three-dimensional (3D) space is of great value for many practical and scientific applications, from manufacturing automation to naval hydrodynamics and much more. This study presents a new, nonintrusive experimental diagnostic for surface reconstruction in the 3D space based on ray tracing and structured illumination. The 3D topography of an air–water interface is obtained based on a robust ray tracing algorithm by imaging, from the gas phase, a vertical 2D laser-induced fluorescent grid generated by Talbot-effect structured illumination. The images of the optically deformed grid are related to the instantaneous surface profiles. The vertical orientation of the structured illumination plane provides boundary conditions for the surface reconstruction and minimizes restrictions of existing schemes. The experimental technique and the profilometry algorithm are presented in detail, and samples of reconstructed surfaces from a droplet impact are discussed. The surface reconstruction performance is assessed by analyzing samples of known topography and estimating residuals for the local surface elevation and slope. [ABSTRACT FROM AUTHOR]

Trypanosomiasis, leishmaniasis, and malaria are tropical diseases that affect poor populations and the commonly-used drugs are toxic and can be subject to drug resistance. There is, therefore, an urgent need to find effective therapeutic agents accessible to these populations that bear the brunt of morbidity and mortality. In vitro activities of seven 1,2,3-triazenes (1a, 1b, 2a, 2b, 3a, 3b, and 4) and five 1,2,3-triazoles (5a, 5b, 6a, 6b, and 7) were evaluated against Trypanosoma brucei gambiense, Leishmania donovani, and Plasmodium falciparum. The 1,2,3-triazenes showed better activities than 1,2,3-triazoles against Leishmania donovani: 2b was the most effective against axenic amastigote forms of Leishmania donovani LV9 (IC50 = 0.89 ± 0.41 μM) and the intramacrophage-amastigote forms (IC50 = 0.99 ± 0.36 μM) with a selectivity index >100. The best trypanocidal activities against Trypanosoma brucei gambiense was observed with the 1,2,3-triazene 3a(IC50 = 3.45 ± 0.09 μM) and the triazole 7, an analog of the cholesterol side chain (IC50 = 3.99 ± 0.23 μM). The most interesting result against Plasmodium falciparum 3D7 strain was obtained with 5b (IC50 = 1.29 ± 0.15 μM) with a selectivity index >77. This study revealed that 1,2,3-triazenes and 1,2,3-triazoles show antiparasitic potential that could lead to a new class of drugs. [ABSTRACT FROM AUTHOR]

Glycosylphosphatidylinositol (GPI) functions to anchor certain proteins to the cell surface. Although defects in GPI biosynthesis can result in a wide range of phenotypes, most affected patients present with neurological abnormalities and their diseases are grouped as inherited-GPI deficiency disorders. We present two siblings with global developmental delay, brain anomalies, hypotonia, and contractures. Exome sequencing revealed a homozygous variant, NM_001035005.4:c.90dupC (p.Phe31Leufs*3) in C18orf32, a gene not previously associated with any disease in humans. The encoded protein is known to be important for GPI-inositol deacylation. Knockout of C18orf32 in HEK293 cells followed by a transfection rescue assay revealed that the PIPLC (Phosphatidylinositol-Specific Phospholipase C) sensitivity of GPI-APs (GPI-anchored proteins) was restored only by the wild type and not the mutant C18orf32. Immunofluorescence revealed that the mutant C18orf32 was localized to the endoplasmic reticulum and was also found as aggregates in the nucleus. In conclusion, we identified a pathogenic variant in C18orf32 as the cause of a novel autosomal recessive neurodevelopmental disorder with hypotonia and contractures. Our results demonstrate the importance of C18orf32 in the biosynthesis of GPI-anchors, the molecular impact of the variant on the protein function, and add a novel candidate gene to the existing repertoire of genes implicated in neurodevelopmental disorders. [ABSTRACT FROM AUTHOR]

Purpose: Meniscus repair has gained increasing interest over the last two decades as loss of meniscus tissue predisposes to early onset knee arthritis. Although there are many reports of meniscus repair outcome in short-term studies, data on the long-term outcome of meniscus repair are still scarce. The purpose of this meta-analysis was to evaluate the overall failure rate of meniscus repair with a minimum follow-up of 5 years. Additionally, possible factors influencing meniscus repair outcome were assessed. Methods: PubMed and Scopus were searched for studies of the last 20 years reporting on meniscus repair outcome with a minimum follow-up of 5 years. The study was performed following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. The search terms used for this study were ([meniscus OR meniscal] AND repair). Titles and abstracts were evaluated by two authors independently. Using meta package of R (version 3.6.2), random-effect models were performed to pool failure rates. Subgroup analyses were performed and effect estimates in form of an odds ratio with 95% CIs were established. Results: In total, 12 studies with 864 patients were included. Degenerative tears were excluded in two studies and one study only included traumatic meniscus tears. Other studies did not state whether the cause of meniscus tear was degenerative or traumatic. Studies reporting meniscus repair outcome on root repairs, revision anterior cruciate ligament reconstruction, discoid menisci or ramp lesions were excluded. Revision surgery was used as failure definition in all included studies. The overall failure rate of meniscal repair at a mean follow-up of 86 months was 19.1%. There was no significant difference in meniscus repair outcome when performed in combination with anterior cruciate ligament reconstruction compared to isolated meniscus repair (18.7% vs. 28%; n.s.) or when performed on the lateral meniscus compared to the medial meniscus (19.5% vs. 24.4%; n.s.). There was no significant difference of meniscus repair outcome between vertical/longitudinal tears and bucket-handle tears (n.s.). Thirty-six percent of meniscus repair failures occur after the second postoperative year. The only significant finding was that inside-out repair results in a lower failure rate compared to all-inside repair (5.6% vs. 22.3%; p = 0.009) at 5 years. Conclusion: The overall meniscus repair failure rate remains nineteen percent in long-term studies. The cause of failure is poorly documented, and it remains unclear whether failure of the meniscus repair itself or additional adjacent tears lead to revision surgery. Despite the given technical advantages of all-inside repair devices, this meta-analysis cannot demonstrate superior outcomes compared to inside-out or outside-in repair at 5 years. Level of evidence: IV. [ABSTRACT FROM AUTHOR]

The characterization of commercially available Corning® Lab Photo Reactor by actinometry at different wavelengths (365, 385, 405 and 475 nm) using azobenzene E ↔ Z photoisomerization is reported. By comparison with photon fluxes determined externally using a radiometer, this method based on NMR spectroscopy is rapid, cheap, robust, reproducible and can applied to UVA–visible range, compared to previously described chemical actinometric protocols. Recalculation of isatin N2-phenylhydrazone isomerization quantum yield at 405 nm gave almost the same value as the literature data (Φ = 0.0013) and confirmed the robustness and applicability of this methodology. [ABSTRACT FROM AUTHOR]

Bain type of X-linked syndromic intellectual developmental disorder, caused by pathogenic missense variants in HRNRPH2, was initially described in six female individuals affected by moderate-to-severe neurodevelopmental delay. Although it was initially postulated that the condition would not be compatible with life in males, several affected male individuals harboring pathogenic variants in HNRNPH2 have since been documented. However, functional in-vitro analyses of identified variants have not been performed and, therefore, possible genotype–phenotype correlations remain elusive. Here, we present eight male individuals, including a pair of monozygotic twins, harboring pathogenic or likely pathogenic HNRNPH2 variants. Notably, we present the first individuals harboring nonsense or frameshift variants who, similarly to an individual harboring a de novo p.(Arg29Cys) variant within the first quasi-RNA-recognition motif (qRRM), displayed mild developmental delay, and developed mostly autistic features and/or psychiatric co-morbidities. Additionally, we present two individuals harboring a recurrent de novo p.(Arg114Trp), within the second qRRM, who had a severe neurodevelopmental delay with seizures. Functional characterization of the three most common HNRNPH2 missense variants revealed dysfunctional nucleocytoplasmic shuttling of proteins harboring the p.(Arg206Gln) and p.(Pro209Leu) variants, located within the nuclear localization signal, whereas proteins with p.(Arg114Trp) showed reduced interaction with members of the large assembly of splicing regulators (LASR). Moreover, RNA-sequencing of primary fibroblasts of the individual harboring the p.(Arg114Trp) revealed substantial alterations in the regulation of alternative splicing along with global transcriptome changes. Thus, we further expand the clinical and variant spectrum in HNRNPH2-associated disease in males and provide novel molecular insights suggesting the disorder to be a spliceopathy on the molecular level. [ABSTRACT FROM AUTHOR]

In experimental fluid dynamics, it would be invaluable to have solids with a refractive index similar to that of water, hence simplifying the use of existing facilities to study flows around complex geometries. Here we report a polymer that is refractive-index-matched with water at room temperature and can be cast in thick specimens. We successfully demonstrated its use with three common laser-based diagnostics: laser-induced fluorescence, particle image velocimetry, and molecular tagging velocimetry. [ABSTRACT FROM AUTHOR]

Lack of standardization in the Roux-en-Y gastric bypass (RY-GBP) is quite well established. We all learned the basics of the technique, but a lot of differences do exist in performing each step of the procedure. Based on scientific evidences, coming from an extensive and meticulous review of the literature of the last 20 years, we thus address the different technical steps of the procedure and their importance to try and propose a standardization of RYGBP. A lot of possibilities exist at each and every step of a RYGBP. They influence the postoperative complications, the end weight loss (EWL), weight regain, and resolution of obesity bounded comorbidities. Furthermore, lack of standardization leads to problems regarding comparison of scientific data in the related literature. [ABSTRACT FROM AUTHOR]

Molecular tagging velocimetry (MTV) is a nonintrusive optical diagnostic with typically three variants in liquids distinguished by the dye that they rely on: phosphorescent, photochromic, or caged. The latter scheme, initially called photo-activated nonintrusive tracking of molecular motion (PHANTOMM), required both a UV and a dedicated blue laser. Here, we demonstrate caged-dye-based MTV with pulsed UV and green lasers for the first time, simplifying its deployment in most experimental fluid dynamics laboratories. [ABSTRACT FROM AUTHOR]

DOORS syndrome is characterized by deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures. In this study, we report two unrelated individuals with DOORS syndrome without deafness. Exome sequencing revealed a homozygous missense variant in PIGF (NM_173074.3:c.515C>G, p.Pro172Arg) in both. We demonstrate impaired glycosylphosphatidylinositol (GPI) biosynthesis through flow cytometry analysis. We thus describe the causal role of a novel disease gene, PIGF, in DOORS syndrome and highlight the overlap between this condition and GPI deficiency disorders. For each gene implicated in DOORS syndrome and/or inherited GPI deficiencies, there is considerable clinical variability so a high index of suspicion is warranted even though not all features are noted. [ABSTRACT FROM AUTHOR]

It has been proposed that adaptation to high temperature involved the synthesis of monolayer-forming ether phospholipids. Recently, a novel membrane architecture was proposed to explain the membrane stability in polyextremophiles unable to synthesize such lipids, in which apolar polyisoprenoids populate the bilayer midplane and modify its physico-chemistry, extending its stability domain. Here, we have studied the effect of the apolar polyisoprenoid squalane on a model membrane analogue using neutron diffraction, SAXS and fluorescence spectroscopy. We show that squalane resides inside the bilayer midplane, extends its stability domain, reduces its permeability to protons but increases that of water, and induces a negative curvature in the membrane, allowing the transition to novel non-lamellar phases. This membrane architecture can be transposed to early membranes and could help explain their emergence and temperature tolerance if life originated near hydrothermal vents. Transposed to the archaeal bilayer, this membrane architecture could explain the tolerance to high temperature in hyperthermophiles which grow at temperatures over 100 °C while having a membrane bilayer. The induction of a negative curvature to the membrane could also facilitate crucial cell functions that require high bending membranes. By studying the properties of a synthetic membrane mimicking an archaeal membrane and containing the apolar polyisoprenoid squalane, Salvador-Castell et al. show that lipid bilayer stability and functionality are shifted to higher temperatures under high pressure. These findings support the view that apolar lipids may constitute an adaptative route to high-temperature tolerance in archaeal hyperthermophiles. [ABSTRACT FROM AUTHOR]

Leishmaniasis is a tropical parasitic disease that affects up to 12 million people worldwide. Current chemotherapies have limitations such as toxicity, high cost, and parasite resistance. This work aims to select an essential oil (EssOil) isolated from the Tunisian flora as a new antileishmanial candidate. Two plants were chosen for their antileishmanial potential: Citrus limon (Citrus) and Pistacia lentiscus (Pistacia). Each of these plants was harvested from two different sites (area 1 and area 2). Extracted EssOils were characterized using GC-MS. Their antiparasitic activity against axenic and intracellular Leishmania major amastigotes and their cytotoxicity were assessed. Citrus EssOil from area 1 displayed an interesting activity against L. major intramacrophage amastigotes with IC50 value at 4.2 ± 1.3 μg/mL. Interestingly, this activity was close to that of miltefosine. Moderate activities against intracellular amastigote were observed for Pistacia EssOil from area 1 and Citrus EssOil from area 2. However, low cytotoxicity with high selectivity index was proved only for Citrus EssOil from area 1, revealing its safety for macrophages. This study also demonstrated for the first time the antileishmanial activity of EssOil extracted from Citrus limon leaves. The EssOil interesting activity could be related to the lipophilic properties of terpenes that were shown in literature to contribute to the disruption of parasite intracellular metabolic pathways. [ABSTRACT FROM AUTHOR]

Aims: The involvement of an inter-professional healthcare student team in the review of medications used by geriatric patients could not only provide patients with optimized therapy but also provide students with a valuable inter-professional learning experience. We describe and evaluate the clinical and learning outcomes of an inter-professional student-run mediation review program (ISP). Subject and method: A variable team consisting of students in medicine, pharmacy, master advanced nursing practice, and master physician assistant reviewed the medication lists of patients attending a specialized geriatric outpatient clinic. Results: During 32 outpatient visits, 188 medications were reviewed. The students identified 14 medication-related problems, of which 4 were not recognized by healthcare professionals. The ISP team advised 95 medication changes, of which 68 (71.6%) were directly implemented. Students evaluated this pilot program positively and considered it educational (median score 4 out of 5) and thought it would contribute to their future inter-professional relationships. Conclusion: An inter-professional team of healthcare students is an innovative healthcare improvement for (academic) hospitals to increase medication safety. Most formulated advices were directly incorporated in daily practice and could prevent future medication-related harm. The ISP also offers students a first opportunity to work in an inter-professional manner and get insight into the perspectives and qualities of their future colleagues. [ABSTRACT FROM AUTHOR]

Purpose: It remains unclear if morphologic patterns of the patella itself predispose to patellar instability. This study examined established patellar landmarks in relation to the femoral condyle width to clarify differences of patellar morphologies in patellofemoral stable and unstable patients.Methods: Magnetic Resonance Imaging of 50 subjects (20.7 ± 4.4 years; 17 males, 33 females) with patellofemoral instability (study group, SG) and 50 subjects (25.3 ± 5.8 years; 31 males, 19 females) with anterior cruciate ligament rupture (control group, CG) were analyzed. Corresponding patellar value indices (PW-I; LPF-I 1; LPF-I 2) in relation to the femoral condyle width (FCW) were evaluated after the measurement of absolute patellar dimension [patellar width (PW); direct length of the lateral patellar facet (LPF-1); projected length of the lateral patellar facet (LPF-2)]. The patellar shape according to Wiberg, trochlear dysplasia, patellar height, and tibial tubercle-trochlear groove (TT-TG) distance were determined.Results: The SG showed a significantly longer absolute (LPF 2) (P = 0.041) and relative (LPF-I 1, LPF-I 2) (P < 0.001) lateral facet of the patella. No significant differences were evaluable for the relative patellar width (PW-I) (ns). A patellar shape type 3 (P = 0.001) as well as a higher position of the patella and TT-TG-distance (P < 0.001) were significantly more often present in the SG.Conclusion: There are several bony alterations associated with patellofemoral instability, but our data did not show a significantly smaller lateral patellar facet or relative patellar width that could facilitate a patellar dislocation. This helps surgeons, that are considering to surgically address the patella in cases of patellofemoral instability, to better understand its morphologic pattern.Level Of Evidence: III. [ABSTRACT FROM AUTHOR]

A new scheme is described and characterized to generate very fine structured illumination patterns that can be used to significantly improve the spatial resolution of molecular tagging velocimetry (MTV) and other techniques that rely on structured illumination. MTV is particularly suited to measure spatial gradients of velocity as well as second-order derivatives, but has traditionally suffered from a limited resolution. MTV has gained a broad adoption in high-speed gas dynamics and has also been applied to a lesser extent in aqueous flows. The present work makes use of the optical Talbot effect, a near-field diffraction phenomenon, to generate an array of quasi-parallel beamlets with very flexible beam spacing and diameter. Both pitch and width have been demonstrated down to the order of 10 μ m , which is about ten times smaller than that performed in previous MTV studies. Structured illumination with Talbot effect has potential for even smaller sizes. Several parameters are extensively characterized, including beamlet size, spacing, and persistence. Optimization of the optical components is also discussed, including lasers and lenses. Simple analytical models enable to assist in the design of experiments with Talbot effect. The technique is demonstrated with 1D multi-line and 2D grids with simple MTV tests in water. The selected caged dye is used for the first time in MTV and conveniently enables the use of green PIV lasers to read the tagged lines. [ABSTRACT FROM AUTHOR]

Purpose: To assess knee health in retired female football players, using magnetic resonance imaging (MRI) and self-report. The focus of analysis were degenerative changes of the tibiofemoral joint, and their relationship to osteoarthritis symptoms and previous knee injury.Methods: Forty-nine retired elite, female football players (98 knees) aged 37 years on average participated. Tibiofemoral cartilage and meniscus status of both knees were evaluated using MRI and graded according to modified Outerbridge and Stoller classifications, respectively. Symptoms were assessed through a standardised questionnaire (Knee Osteoarthritis Outcome Score: KOOS). Knee injury history was recorded via a semi-structured interview. To investigate how injury variables relate to outcomes, binary logistic regression models were used and reported with odds ratios (OR).Results: Fifty-one per cent of players (n = 25) fulfilled the MRI criterion for knee osteoarthritis, 69.4% (n = 34) had substantial meniscal loss and 59.6% (n = 28) reported substantial clinical symptoms. Chondral- and meniscal loss were associated with significantly lower scores on three of five KOOS subscales (p < .05). Both chondral and meniscal loss were significantly predicted by previous traumatic knee injury (OR = 4.6, OR = 2.6), the injury affecting the non-striking leg (OR = 8.6, OR = 10.6) and type of injury; participants with combined ACL/meniscus injuries had the highest risk for substantial chondral and meniscal loss (OR = 14.8, OR = 9.5). Chondral loss was significantly predicted by isolated meniscus injury treated with partial meniscectomy (OR = 5.4), but not by isolated reconstructed ACL injury. Clinical symptoms were only significantly predicted by previous traumatic knee injury (OR = 5.1).Conclusions: Serious degenerative changes were found in a high number of retired female football players' knees 10 years after their career. Meniscal integrity is key for knee osteoarthritis outcomes in young adults, and thus, its preservation should be a priority. [ABSTRACT FROM AUTHOR]

Background: Paraesophageal hernias (PEH) tend to occur in elderly patients and the assumed higher morbidity of PEH repair may dissuade clinicians from seeking a surgical solution. On the other hand, the mortality rate for emergency repairs shows a sevenfold increase compared to elective repairs. This analysis evaluates the complication rates after elective PEH repair in patients 80 years and older in comparison with younger patients.Methods: In total, 3209 patients with PEH were recorded in the Herniamed Registry between September 1, 2009 and January 5, 2018. Using propensity score matching, 360 matched pairs were formed for comparative analysis of general, intraoperative, and postoperative complication rates in both groups.Results: Our analysis revealed a disadvantage in general complications (6.7% vs. 14.2%; p = 0.002) for patients ≥ 80 years old. No significant differences were found between the two groups for intraoperative (4.7% vs. 5.8%, p = 0.627) and postoperative complications (2.2% vs. 2.8%, p = 0.815) or for complication-related reoperations (1.7% vs. 2.2%, p = 0.791).Conclusions: Despite a higher risk of general complications, PEH repair in octogenarians is not in itself associated with increased rates of intraoperative and postoperative complications or associated reoperations. Therefore, PEH repair can be safely offered to elderly patients with symptomatic PEH, if general medical risk factors are controlled. [ABSTRACT FROM AUTHOR]

This correction notice is for an article titled "Fungal antigenic variation using mosaicism and reassortment of subtelomeric genes' repertoires" published in Nature Communications. The correction addresses errors in Figure 1, where black stars were missing in panels a and b to identify patients infected by a single strain. Additionally, there were incorrect references to tables in the Supplementary Data 6, which have now been corrected. The errors have been rectified in both the PDF and HTML versions of the article. The authors of the article are Caroline S. Meier, Marco Pagni, Sophie Richard, Konrad Mühlethaler, João M. G. C. F. Almeida, Gilles Nevez, Melanie T. Cushion, Enrique J. Calderón, and Philippe M. Hauser. [Extracted from the article]

Purpose: Medial open wedge high tibial osteotomy (owHTO) is a valuable surgical technique used to manage medial degeneration in varus knees. Iliac crest autograft is considered the gold standard gap-filler. It was hypothesised that iliac crest autograft promotes gap healing and improves functional outcome in owHTO.Methods: Between 2005 and 2009, patients scheduled to undergo owHTO stabilised by a medial locking compression plate were randomised to undergo owHTO either with iliac crest autograft (group A) or without bone void filler (group B). Pre- and postoperative leg axes were recorded. At 3 and 12 months postoperatively, the healing of the osteotomy gap was measured as a percentage on CT images, and functional scores were recorded.Results: There were 15 patients in group A, and 25 in group B. The groups were similar in age, sex ratio, knee varus deformity, body mass index, and smoking status. Group A and B had similar preoperative varus (6.9° vs. 7.6°) and postoperative valgus (2.2° vs. 3.0°). Compared with the control group, group A had a significantly greater degree of osseous gap healing after 3 months (40.1% vs. 10.8%, p = 0.045) and 12 months (91.5% vs. 59.1%, p ≤ 0.001). Multiple linear regression analysis found that bone grafting was an independent promoting factor for gap healing, while increased preoperative varus was an independent retardant factor at 3 months (p = 0.004 and p = 0.002, respectively) and 12 months (p ≤ 0.001 and p = 0.003, respectively). Younger age was a promoting factor for gap healing on CT at 3 months (p ≤ 0.001), but not at 12 months. No correlations were found between bone healing and functional outcome, body mass index, or smoking status.Conclusions: Iliac crest autograft significantly increases healing of the osteotomy gap after owHTO. Increased preoperative varus and older patient age are independent factors that delay early healing of the osteotomy. However, no functional advantage was found at 3 or 12 months postoperatively. Therefore, routine use of iliac crest autograft cannot be recommended.Level Of Evidence: II. [ABSTRACT FROM AUTHOR]

Lowry-Wood syndrome (LWS) is a skeletal dysplasia characterized by multiple epiphyseal dysplasia associated with microcephaly, developmental delay and intellectual disability, and eye involvement. Pathogenic variants in RNU4ATAC, an RNA of the minor spliceosome important for the excision of U12-dependent introns, have been recently associated with LWS. This gene had previously also been associated with microcephalic osteodysplastic primordial dwarfism (MOPD) and Roifman syndrome (RS), two distinct conditions which share with LWS some skeletal and neurological anomalies. We performed exome sequencing in two individuals with Lowry-Wood syndrome. We report RNU4ATAC pathogenic variants in two further patients. Moreover, an analysis of all RNU4ATAC variants reported so far showed that FitCons scores for nucleotides mutated in the more severe MOPD are higher than RS or LWS and that they were more frequently located in the 5′ Stem-Loop of the RNA critical for the formation of the U4/U6.U5 tri-snRNP complex, whereas the variants are more dispersed in the other conditions. We are thus confirming that RNU4ATAC is the gene responsible for LWS and provide a genotype-phenotype correlation analysis. [ABSTRACT FROM AUTHOR]

Purpose: Increased tibial tubercle trochlear groove distance (TT-TG) is frequently associated with trochlear dysplasia (TD). Since the trochlear groove appears more distally in patients with TD compared to controls, it is unknown whether TT-TG might be comparable and meaningful.Methods: Fifty patients with TD were retrospectively analysed and compared to 52 age- and gender-matched patients (CG). TT-TG was measured on transverse MR images, as the distance between the trochlear groove of minimal 2 mm depth proximally and the centre of the patellar tendon at its distal insertion. The height of the femoral reference point above joint line was recorded for both groups. TT-TG measurement was repeated in CG using the first (P25), second (P50) and third quartile (P75) above joint line of TD.Results: Patients with TD had a significantly smaller vertical distance between the most proximal trochlear deepening and the femorotibial joint line (20.6 mm, range 10.3-30.9) compared to CG (33.8 mm, range 25.4-41.1; p < 0.001). TT-TG values measured at 20 mm (P50) and 15 mm (P25) proximal to the femorotibial joint line were significantly smaller compared when measured with the most proximal reference point [1.8 mm (95 % CI 1.3-2.3, p < 0.001) and 2.4 mm (95 % CI 1.9-3.0, p < 0.001)] in CG. The inter-rater reliability was excellent (ICC 0.99).Conclusion: TT-TG distance depends significantly on the femoral reference point. Since the trochlear groove is seen more distally in patients with TD compared to controls, TT-TG of the patients with highest risk of recurrent patellar instability might be underestimated.Level Of Evidence: Diagnostic study, Level I. [ABSTRACT FROM AUTHOR]

Zimmermann-Laband syndrome (ZLS) is a developmental disorder characterized by facial dysmorphism with gingival enlargement, intellectual disability, hypoplasia or aplasia of nails and terminal phalanges, and hypertrichosis. We report that heterozygous missense mutations in KCNH1 account for a considerable proportion of ZLS. KCNH1 encodes the voltage-gated K+ channel Eag1 (Kv10.1). Patch-clamp recordings showed strong negative shifts in voltage-dependent activation for all but one KCNH1 channel mutant (Gly469Arg). Coexpression of Gly469Arg with wild-type KCNH1 resulted in heterotetrameric channels with reduced conductance at positive potentials but pronounced conductance at negative potentials. These data support a gain-of-function effect for all ZLS-associated KCNH1 mutants. We also identified a recurrent de novo missense change in ATP6V1B2, encoding the B2 subunit of the multimeric vacuolar H+ ATPase, in two individuals with ZLS. Structural analysis predicts a perturbing effect of the mutation on complex assembly. Our findings demonstrate that KCNH1 mutations cause ZLS and document genetic heterogeneity for this disorder. [ABSTRACT FROM AUTHOR]

Myhre syndrome is characterized by short stature, brachydactyly, facial features, pseudomuscular hypertrophy, joint limitation and hearing loss. We identified SMAD4 mutations as the cause of Myhre syndrome. SMAD4 mutations have also been identified in laryngotracheal stenosis, arthropathy, prognathism and short stature syndrome (LAPS). This study aimed to review the features of Myhre and LAPS patients to define the clinical spectrum of SMAD4 mutations. We included 17 females and 15 males ranging in age from 8 to 48 years. Thirty were diagnosed with Myhre syndrome and two with LAPS. SMAD4 coding sequence was analyzed by Sanger sequencing. Clinical and radiological features were collected from a questionnaire completed by the referring physicians. All patients displayed a typical facial gestalt, thickened skin, joint limitation and muscular pseudohypertrophy. Growth retardation was common (68.7%) and was variable in severity (from −5.5 to −2 SD), as was mild-to-moderate intellectual deficiency (87.5%) with additional behavioral problems in 56.2% of the patients. Significant health concerns like obesity, arterial hypertension, bronchopulmonary insufficiency, laryngotracheal stenosis, pericarditis and early death occurred in four. Twenty-nine patients had a de novo heterozygous SMAD4 mutation, including both patients with LAPS. In 27 cases mutation affected Ile500 and in two cases Arg496. The three patients without SMAD4 mutations had typical findings of Myhre syndrome. Myhre-LAPS syndrome is a clinically homogenous condition with life threatening complications in the course of the disease. Our identification of SMAD4 mutations in 29/32 cases confirms that SMAD4 is the major gene responsible for Myhre syndrome. [ABSTRACT FROM AUTHOR]

Retinal ischemia is a very useful model to study the impact of various cell death pathways, such as apoptosis and necrosis, in the ischemic retina. However, it is important to note that the retina is formed as an outpouching of the diencephalon and is part of the central nervous system. As such, the cell death pathways initiated in response to ischemic damage in the retina reflect those found in other areas of the central nervous system undergoing similar trauma. The retina is also more accessible than other areas of the central nervous system, thus making it a simpler model to work with and study. By utilizing the retinal model, we can greatly increase our knowledge of the cell death processes initiated by ischemia which lead to degeneration in the central nervous system. This paper examines work that has been done so far to characterize various aspects of cell death in the retinal ischemia model, such as various pathways which are activated, and the role neurotrophic factors, and discusses how these are relevant to the treatment of ischemic damage in both the retina and the greater central nervous system. [ABSTRACT FROM AUTHOR]

Catalytic asymmetric conjugate addition reactions with organometallic reagents are powerful reactions in synthetic chemistry. Procedures that use non-stabilized carbanions have been developed extensively, but these suffer from a number of limitations that prevent their use in many situations. Here, we report that alkylmetal species generated in situ from alkenes can be used in highly enantioselective 1,4-addition initiated by a copper catalyst. Using alkenes as starting materials is desirable because they are readily available and have favourable properties when compared to pre-made organometallics. High levels of enantioselectivity are observed at room temperature in a range of solvents, and the reaction tolerates functional groups that are not compatible with comparable methods-a necessary prerequisite for efficient and protecting-group-free strategies for synthesis. [ABSTRACT FROM AUTHOR]

Nitric oxide (NO) is crucial in diverse physiological and pathological processes. We show that a hypomorphic mouse model of argininosuccinate lyase (encoded by Asl) deficiency has a distinct phenotype of multiorgan dysfunction and NO deficiency. Loss of Asl in both humans and mice leads to reduced NO synthesis, owing to both decreased endogenous arginine synthesis and an impaired ability to use extracellular arginine for NO production. Administration of nitrite, which can be converted into NO in vivo, rescued the manifestations of NO deficiency in hypomorphic Asl mice, and a nitric oxide synthase (NOS)-independent NO donor restored NO-dependent vascular reactivity in humans with ASL deficiency. Mechanistic studies showed that ASL has a structural function in addition to its catalytic activity, by which it contributes to the formation of a multiprotein complex required for NO production. Our data demonstrate a previously unappreciated role for ASL in NOS function and NO homeostasis. Hence, ASL may serve as a target for manipulating NO production in experimental models, as well as for the treatment of NO-related diseases. [ABSTRACT FROM AUTHOR]

The inputs and breakdown of terrestrial leaf litter in streams is a fundamental ecological process that sustains in-stream foodwebs and secondary production. In temporary rivers, litter breakdown is reduced during dry phases, but the long-term effect of alternating drying and wetting cycles on litter breakdown is still poorly understood. We tested the hypothesis that leaf litter breakdown (LLB) in temporary rivers is primarily controlled by flow permanence (the number of flowing days over a given period expressed in %), and that drying events affect LLB during leaf fall periods through reduction of microbial activity and the modification of aquatic invertebrate assemblages. LLB rates ( k), microbial activity and invertebrate assemblages were determined in winter at ten cross-sections scattered along a flow permanence gradient on the temporary Albarine River, France. Results demonstrated that summer drying events affected the breakdown process for up to 6 months after flow has resumed in the river. LLB rates decreased exponentially with decreasing flow permanence, and with increasing drying event duration and frequency. These exponential relationships were observed for flow permanence variables calculated for the river for both 24-years and 1-year time periods prior to the experiment. A decrease in flow permanence from 100 to 85% led to a four-fold decrease in leaf litter breakdown rate. Microbial activity, which typically did not differ between cross-sections, failed to explain the between-cross-section differences in k. By contrast, invertebrate assemblages and, shredders, in particular, decreased exponentially with decreasing flow permanence and with increasing drying event duration and frequency. [ABSTRACT FROM AUTHOR]

Effect of the seed layer on Seebeck coefficient measurement of electroplated thermoelectric films was quantitatively analyzed. It is found that sheet, rather than bulk resistance of the seed layer, or more precisely its relative comparison to sheet resistance of the film, determines the effects. The analysis reveals that the seed layer's effect can be neglected (within 1% error) only if the sheet resistance ratio [R□2](film)/R □1(seed)] is smaller than 0.01. This condition commonly requires film thicknesses of 100 µm or more, which is not practically relevant. Based on the analysis we proposed a new method that is applicable for 10 times thinner films. This approach for determining Seebeck coefficient is simple, and more importantly, electroplated films can be characterized in their statu nascendi. Finite element simulation and experiments verified the analysis. [ABSTRACT FROM AUTHOR]

Caspase-12 has been shown to negatively modulate inflammasome signaling during bacterial infection. Its function in viral immunity, however, has not been characterized. We now report an important role for caspase-12 in controlling viral infection via the pattern-recognition receptor RIG-I. After challenge with West Nile virus (WNV), caspase-12-deficient mice had greater mortality, higher viral burden and defective type I interferon response compared with those of challenged wild-type mice. In vitro studies of primary neurons and mouse embryonic fibroblasts showed that caspase-12 positively modulated the production of type I interferon by regulating E3 ubiquitin ligase TRIM25-mediated ubiquitination of RIG-I, a critical signaling event for the type I interferon response to WNV and other important viral pathogens. [ABSTRACT FROM AUTHOR]

Six genes confer a high risk for developing breast cancer ( BRCA1/2, TP53, PTEN, STK11, CDH1). Both BRCA1 and BRCA2 have DNA repair functions, and BRCA1/2 deficient tumors are now being targeted by poly(ADP-ribose) polymerase inhibitors. Other genes conferring an increased risk for breast cancer include ATM, CHEK2, PALB2, BRIP1 and genome-wide association studies have identified lower penetrance alleles including FGFR2, a minor allele of which is associated with breast cancer. We review recent findings related to the function of some of these genes, and discuss how they can be targeted by various drugs. Gaining deeper insights in breast cancer susceptibility will improve our ability to identify those families at increased risk and permit the development of new and more specific therapeutic approaches. [ABSTRACT FROM AUTHOR]

One hundred and thirteen patients underwent the implantation of an ACADEMIA prosthesis between 1999 and 2000. The minimum follow-up period was 5 years. The ACADEMIA prosthesis is available in either uncemented or cemented model, in posterior-cruciate-retaining (PCL) and posterior-stabilised (PS) versions, with a fixed plate. This is a continuous, retrospective, multicenter study; all etiologies were included. Degenerative lesions markedly predominated; there were 106 cases of primary prosthesis. Clinical signs: They were severe with a mean total preoperative 200-point score of 74 points. The surgical procedure: Cement was used for the femoral condyle in 69 surgical procedures, for the tibial platebase in 56 cases; all patients requiring prosthetic patella had a cemented model (93 cases). Postoperative supervision: Patients were asked to undergo the clinical and radiological review required for this study. Criteria for the evaluation of osseointegration of the arthroplasty and possible radiological reactions were recorded. Postoperative complications come down to five cases of phlebitis treated with anticoagulation and two haematomas which did not require any revision procedure for surgical removal. Revision procedures: Seven patients were re-operated for various reasons. Analysis of the “200-point” overall score: The overall evaluation adding the examination score to the functional score gives an idea of the improvements obtained with the operation (74–159). Flexion and pain: The mean preoperative flexion was 107.3°; the mean postoperative flexion is 108.6°. The mean pain grade starts at 10 in the preoperative period and is 42 in the postoperative period. Mechanical axes, varus and valgus displacements: In this series, the knee showed a normal axis in 95.5% of the patients operated on while they were only 13% at the time of the preoperative examination. The HKA angles measured pre- and postoperatively confirm the correction achieved: the mean axis was at 175.2° in the preoperative period; it is at 179.6° in the postoperative period. The femoral condyle was found to be normal in all the patients reviewed, as well as the tibial or patellar implant when the latter was in place. Lucencies: Their thickness is always < 2 mm. At the femoral level, four cases of lucency are noted. At the tibial level, five cases of lucency are found. Patella: Six tilts were observed without detrimental clinical effects. Survival curve: When considering revision surgery with replacement of the prosthesis as the final indicator, the survival rate obtained is 98.23%. The analysis of the results according to the type of implant does not show any statistical significant difference except that complications related to the surgery were only observed in the PS series. At maximum follow-up, no breakage or failure were observed. These early results for the ACADEMIA prosthesis seem encouraging for several reasons: (1) No mechanical complication was noted in relation to the implant either in “PCL” or in “PS”. (2) Surgeons did not make any complaints or comments concerning the use of this prosthesis. (3) The clinical follow-up performed according to the 200-point score of the American Knee Society, shows a clear improvement of the performances of the patient operated on; this result is not altered by the established obesity in most patients and the great number of varus displacements detected during the preoperative evaluation. (4) The most significant improvement in the quality of life is pain relief. (5) Radiological results did not detect any deterioration of the material or significant bone modifications around the prosthesis. [ABSTRACT FROM AUTHOR]