Risk factors for enterococcal urinary tract infections: a multinational,retrospective cohort study

European Journal of Clinical Microbiology & Infectious Diseases - Complicated urinary tract infection (cUTI) is a frequent cause of morbidity. In this multinational retrospective cohort study,...     

QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum

Ververi‐Brady syndrome (VBS, # 617982) is a rare developmental disorder, and loss‐of‐function variants in QRICH1 were implicated in its etiology. Furthermore, a recognizable phenotype was proposed comprising delayed speech, learning difficulties and dysmorphic signs. Here, we present four unrelated individuals with one known nonsense variant (c.1954C > T; p.[Arg652*]) and three novel de novo QRICH1 variants, respectively. These included two frameshift mutations (c.832_833del; p.(Ser278Leufs*25), c.1812_1813delTG; p.(Glu605Glyfs*25)) and interestingly one missense mutation (c.2207G > A; p.[Ser736Asn]), expanding the mutational spectrum. Enlargement of the cohort by these four individuals contributes to the delineation of the VBS phenotype and suggests expressive speech delay, moderate motor delay, learning difficulties/mild ID, mild microcephaly, short stature and notable social behavior deficits as clinical hallmarks. In addition, one patient presented with nephroblastoma. The possible involvement of QRICH1 in pediatric cancer assumes careful surveillance a key priority for outcome of these patients. Further research and enlargement of cohorts are warranted to learn about the genetic architecture and the phenotypic spectrum in more detail.     

Longitudinal Analysis of Inflammatory Response to SARS-CoV-2 in the Upper Respiratory Tract Reveals an Association with Viral Load,Independent of Symptoms

Background

SARS-CoV-2 infection leads to high viral loads in the upper respiratory tract that may be determinant in virus dissemination. The extent of intranasal antiviral response in relation to symptoms is unknown. Understanding how local innate responses control virus is key in the development of therapeutic approaches.

Methods

SARS-CoV-2-infected patients were enrolled in an observational study conducted at the Geneva University Hospitals, Switzerland, investigating virological and immunological characteristics. Nasal wash and serum specimens from a subset of patients were collected to measure viral load, IgA specific for the S1 domain of the spike protein, and a cytokine panel at different time points after infection; cytokine levels were analyzed in relation to symptoms.

Results

Samples from 13 SARS-CoV-2-infected patients and six controls were analyzed. We found an increase in CXCL10 and IL-6, whose levels remained elevated for up to 3 weeks after symptom onset. SARS-CoV-2 infection also induced CCL2 and GM-CSF, suggesting local recruitment and activation of myeloid cells. Local cytokine levels correlated with viral load but not with serum cytokine levels, nor with specific symptoms, including anosmia. Some patients had S1-specific IgA in the nasal cavity while almost none had IgG.

Conclusion

The nasal epithelium is an active site of cytokine response against SARS-CoV-2 that can last more than 2 weeks; in this mild COVID-19 cohort, anosmia was not associated with increases in any locally produced cytokines.

     

SPPS Resins Impact the PNA-Syntheses' Improvement

The personalized medicine, also documented as “individualized medicine”, is an effective and therapeutic approach. It is designed to treat the disease of the individual patient whose precise differential gene expression profile is well known. The trend in the biomedical and biophysical research shows important consequences for the pharmaceutical drug and diagnostics research. It requires a high variability in the design and safety of target-specific pharmacologically active molecules and diagnostic components for imaging of metabolic processes. A key technology which may fulfill the highest demands during synthesis of these individual drugs and diagnostics is the solid phase synthesis which is congenial to automated manufacturing. Additionally the choice of tools like resins and reagents is pivotal to synthesize drugs and diagnostics in high quality and yields. Here we demonstrate the solid phase synthesis effects dependent on the choice of resin and of the deprotection agent.     

Access to original canal trajectory after deviation and perforation with guided endodontic assistance

Procedural accidents are eventualities that may occur during endodontic treatment because of lack of attention to detail or even unforeseeable situations. Knowledge of the root canal anatomy and its variations is a prerequisite for successful endodontic treatment. This case report describes an endodontic treatment where there was an intercurrence, generating deviation and perforation, which was solved with the aid of guided endodontics. A 37 years old, ASA1, was referred to the clinic for localisation and treatment of a calcified canal of the second right upper premolar. The tomographic images revealed the presence of only one canal and deviation with apical perforation. With the help of CBCT and CAD/CAM, it was possible to perform the guided access technique even after deviation and root perforation. Once again, this technique proved to be safe and predictable, allowing for a favourable prognosis in the long term.     

Impaired performance of women with patellofemoral pain during functional tests

ObjectiveTo compare the performance, reliability, and validity of functional tests between women with and without patellofemoral pain.MethodsTwenty women with a diagnosis of patellofemoral pain between 18 and 40 years of age and 20 age-matched pain-free controls participated in the study. All participants performed a set of five function tests: sitting-rising test, sit-to-stand in 30 seconds, stair-climb test, stair descent test, and six-minute step test. To investigate reliability, participants were assessed on two different days, seven days apart, by two independent investigators blinded to the results of the other investigator. Validity was evaluated through associations with the results on the Anterior Knee Pain Scale.ResultsPerformance in the tests was worse in women with patellofemoral pain than in the control group for the sit-to-stand in 30 seconds (mean difference [MD] 3.4reps; 95%CI: 0.4, 6.4), stair-climb test (MD: 0.36 s; 95%CI: 0.1, 0.63), and six-minute step test (MD: 45reps; 95%CI: 20, 70). No differences were observed for the sitting-rising and stair descent tests. All tests in both groups showed moderate to excellent intra- and inter-rater reliability (intraclass correlation coefficients: 0.61 to 0.91 and 0.72 to 0.96, respectively). Finally, only the results on the sit-to-stand in 30 seconds test correlated with the Anterior Knee Pain Scale (r = 0.44, p = 0.047) in the patellofemoral pain group.ConclusionWomen with patellofemoral pain present lower performance on some functional tests. Functional tests are reliable in patients with patellofemoral pain, although they are not associated with the results on the Anterior Knee Pain Scale self-questionnaire.     

Detection and Isolation of the Repressor Protein for the Tryptophan Operon of Escherichia coli

DNA from a transducing bacteriophage carrying a fusion of the tryptophan and lactose operons of E. coli (lambdadtrp-lac) has been used to direct cell-free synthesis of beta-galactosidase (EC 3.2.1.23). Whereas normal lac operon (lambdadlac) DNA requires adenosine-3':5'-cyclic monophosphate (cAMP) for beta-galactosidase synthesis, trp-lac DNA is unaffected by cAMP. This difference in cAMP dependence verifies the presence of a cAMP-requiring promoter in the lac operon that has been removed from the trp-lac DNA. Synthesis with trp-lac DNA is controlled by the protein product of the tryptophan repressor gene (trpR). Synthesis in extracts of trpR(-) (repressor-negative) cells is progressively reduced by increased additions of extract from trpR(+) cells. No trpR(-) product repression is seen when beta-galactosidase synthesis is programmed by normal lac DNA. This highly sensitive and specific assay has facilitated quantitation and partial purification of the trp repressor.