Genetic variants in eleven central and peripheral chemoreceptor genes in sudden infant death syndrome

Background: Sudden infant death syndrome (SIDS) is still one of the leading causes of postnatal infant death in developed countries. The occurrence of SIDS is described by a multifactorial etiology that involves the respiratory control system including chemoreception. It is still unclear whether genetic variants in genes involved in respiratory chemoreception might play a role in SIDS. Methods: The exome data of 155 SIDS cases were screened for variants within 11 genes described in chemoreception. Pathogenicity of variants was assigned based on the assessment of variant types and in silico protein predictions according to the current recommendations of the American College of Medical Genetics and Genomics. Results: Potential pathogenic variants in genes encoding proteins involved in respiratory chemoreception could be identified in 5 (3%) SIDS cases. Two of the variants (R137S/A188S) were found in the KNCJ16 gene, which encodes for the potassium channel Kir5.1, presumably involved in central chemoreception. Electrophysiologic analysis of these KCNJ16 variants revealed a loss-of-function for the R137S variant but no obvious impairment for the A188S variant. Conclusions: Genetic variants in genes involved in respiratory chemoreception may be a risk factor in a fraction of SIDS cases and may thereby contribute to the multifactorial etiology of SIDS. Impact: What is the key message of your article? Gene variants encoding proteins involved in respiratory chemoreception may play a role in a minority of SIDS cases. What does it add to the existing literature? Although impaired respiratory chemoreception has been suggested as an important risk factor for SIDS, genetic variants in single genes seem to play a minor role. What is the impact? This study supports previous findings, which indicate that genetic variants in single genes involved in respiratory control do not have a dominant role in SIDS

The Impact of Antimicrobial Therapy Duration in the Treatment of Prosthetic Joint Infections Depending on Surgical Strategies: A Systematic Review and Meta-analysis

The aim of this systematic review was to address the question if short antibiotic treatment (SAT; at least 4 but <12 weeks) versus long antibiotic treatment (LAT) affects outcomes in prosthetic joint infections (PJIs). Database research (Medline, Embase, Web of Science, Scopus, Cochrane) retrieved 3740 articles, of which 10 studies were included in the analysis. Compared to LAT, 11% lower odds of treatment failure in the SAT group were found, although the difference was not statistically significant (pooled odds ratio, 0.89 [95% confidence interval, .53-1.50]). No difference in treatment failure was found between SAT and LAT once stratified by type of surgery, studies conducted in the United States versus Europe, study design, and follow-up. There is still no conclusive evidence that antibiotic treatment of PJIs for 12 weeks or longer is associated with better outcomes, irrespective of the type of surgical procedure. Most recent, high-quality studies tend to favor longer antibiotic courses, making them preferable in most situations

The Impact of Antimicrobial Therapy Duration in the Treatment of Prosthetic Joint Infections Depending on Surgical Strategies: A Systematic Review and Meta-analysis

The aim of this systematic review was to address the question if short antibiotic treatment (SAT; at least 4 but <12 weeks) versus long antibiotic treatment (LAT) affects outcomes in prosthetic joint infections (PJIs). Database research (Medline, Embase, Web of Science, Scopus, Cochrane) retrieved 3740 articles, of which 10 studies were included in the analysis. Compared to LAT, 11% lower odds of treatment failure in the SAT group were found, although the difference was not statistically significant (pooled odds ratio, 0.89 [95% confidence interval, .53-1.50]). No difference in treatment failure was found between SAT and LAT once stratified by type of surgery, studies conducted in the United States versus Europe, study design, and follow-up. There is still no conclusive evidence that antibiotic treatment of PJIs for 12 weeks or longer is associated with better outcomes, irrespective of the type of surgical procedure. Most recent, high-quality studies tend to favor longer antibiotic courses, making them preferable in most situations

Challenging claims in the study of migratory birds and climate change

Recent shifts in phenology in response to climate change are well established but often poorly understood. Many animals integrate climate change across a spatially and temporally dispersed annual life cycle, and effects are modulated by ecological interactions, evolutionary change and endogenous control mechanisms. Here we assess and discuss key statements emerging from the rapidly developing study of changing spring phenology in migratory birds. These well-studied organisms have been instrumental for understanding climate-change effects, but research is developing rapidly and there is a need to attack the big issues rather than risking affirmative science. Although we agree poorly on the support for most claims, agreement regarding the knowledge basis enables consensus regarding broad patterns and likely causes. Empirical data needed for disentangling mechanisms are still scarce, and consequences at a population level and on community composition remain unclear. With increasing knowledge, the overall support (‘consensus view’) for a claim increased and between-researcher variability in support (‘expert opinions') decreased, indicating the importance of assessing and communicating the knowledge basis. A proper integration across biological disciplines seems essential for the field's transition from affirming patterns to understanding mechanisms and making robust predictions regarding future consequences of shifting phenologies

Major central nervous system complications after allogeneic stem cell transplantation: A large retrospective study on 888 consecutive adult patients.

AbstractObjectivesMajor complications affecting the central nervous system (CNS) present a challenge after allogeneic stem cell transplantation (allo‐SCT).MethodsIncidence, risk factors, and outcome were retrospectively analyzed in 888 patients in a monocentric study.ResultsCumulative incidence (CI) of major CNS complications at 1 year was 14.8% (95%CI 12.3%‐17.2%). Median follow‐up is 11 months. CNS complications were documented in 132 patients: in 36 cases, classified metabolic; 26, drug‐related neurotoxicity (14 attributed to cyclosporine A, 4 to antilymphocyte globulin); 11, cerebrovascular (ischemic n = 8, bleeding n = 3); 9, infections; 9, psychiatric; and 9, malignant. The cause of CNS symptoms remained unclear for 37 patients (28%). Multivariate analysis demonstrated an association of CNS complication with patient age (P < .001). The estimated OS of patients with any CNS complication was significantly lower than in patients without neurological complications (P < .001), and the CI of non‐relapse mortality (NRM) was higher for patients with CNS complication (P < .001). A significant negative impact on survival can only be demonstrated for metabolic CNS complications and CNS infections (NRM, P < .0001 and P = .0003, respectively), and relapse (P < .0001).ConclusionCNS complications after allo‐SCT are frequent events with a major contribution to morbidity and mortality. In particular, the situations of unclear neurological complications need to be clarified by intensive research

Development of an artificial synovial fluid useful for studying Staphylococcus epidermidis joint infections

Staphylococcus epidermidis is a major causative agent of prosthetic joint infections (PJI). The ability to form biofilms supports this highly selective pathogenic potential. In vitro studies essentially relying on phenotypic assays and genetic approaches have provided a detailed picture of the molecular events contributing to biofilm assembly. A major limitation in these studies is the use of synthetic growth media, which significantly differs from the environmental conditions S. epidermidis encounters during host invasion. Building on evidence showing that growth in serum substantially affects S. epidermidis gene expression profiles and phenotypes, the major aim of this study was to develop and characterize a growth medium mimicking synovial fluid, thereby facilitating research addressing specific aspects related to PJI. Using fresh human plasma, a protocol was established allowing for the large-scale production of a medium that by biochemical analysis matches key characteristics of synovial fluid and therefore is referred to as artificial synovial fluid (ASF). By analysis of biofilm-positive, polysaccharide intercellular adhesion (PIA)-producing S. epidermidis 1457 and its isogenic, PIA- and biofilm-negative mutant 1457-M10, evidence is provided that the presence of ASF induces cluster formation in S. epidermidis 1457 and mutant 1457-M10. Consistent with the aggregative properties, both strains formed multilayered biofilms when analyzed by confocal laser scanning microscopy. In parallel to the phenotypic findings, expression analysis after growth in ASF found upregulation of genes encoding for intercellular adhesins (icaA, aap, and embp) as well as atlE, encoding for the major cell wall autolysin being responsible for eDNA release. In contrast, growth in ASF was associated with reduced expression of the master regulator agr. Collectively, these results indicate that ASF induces expression profiles that are able to support intercellular adhesion in both PIA-positive and PIA-negative S. epidermidis. Given the observation that ASF overall induced biofilm formation in a collection of S. epidermidis isolates from PJI, the results strongly support the idea of using growth media mimicking host environments. ASF may play an important role in future studies related to the pathogenesis of S. epidermidis PJI

Covid-19 and pulmonary thromboembolism: a case report

COVID-19 is an acute viral infection caused by SARS-CoV-2 coronavirus. This pandemic disease stands out for the marked variation in the clinical characteristics of patients, ranging from asymptomatic cases to severe organ dysfunction and death. Serious complications occur in the late phase of the disease or even after viral infection, and thrombotic events are one of these complications. In this context, this study aimed to report a case of an obese, young adult female patient with a complication of pulmonary thromboembolism after infection by COVID-19

Surveillance of acute SARS-CoV-2 infections in elementary schools and daycare facilities in Bavaria, Germany (09/2020–03/2021)

Introduction: Here we report our results of a multi-center, open cohort study ("COVID-Kids-Bavaria") investigating the distribution of acute SARS-CoV-2 infections among children and staff in 99 daycare facilities and 48 elementary schools in Bavaria, Germany. Materials and Methods: Overall, 2,568 children (1,337 school children, 1,231 preschool children) and 1,288 adults (466 teachers, 822 daycare staff) consented to participate in the study and were randomly tested in three consecutive phases (September/October 2020, November/December 2020, March 2021). In total, 7,062 throat swabs were analyzed for SARS-CoV-2 by commercial RT-PCR kits. Results: In phase I, only one daycare worker tested positive. In phase II, SARS-CoV-2 was detected in three daycare workers, two preschool children, and seven school children. In phase III, no sample tested positive. This corresponds to a positive test rate of 0.05% in phase I, 0.4% in phase II and 0% in phase III. Correlation of a positive PCR test result with the local-7-day incidence values showed a strong association of a 7-day-incidence of more than 100/100,000 as compared to &lt;100/100,000 (OR = 10.3 [1.5-438], p &lt; 0.005). After phase III, antibody testing was offered to 713 study participants in elementary schools. A seroprevalence rate of 7.7% (students) and 4.5% (teachers) was determined. Discussion: During the initial waves of the SARS-CoV-2 pandemic, the risk of a positive SARS-CoV-2 result correlated positively with the local 7-day incidence. Hence, the occurrence of SARS-CoV-2 infections were reflected in schools and daycare facilities. An increased risk of SARS-CoV-2 transmission in the setting of daycare and elementary schooling was unlikely

The proper name as starting point for basic reading skills

Does alphabetic-phonetic writing start with the proper name and how does the name affect reading and writing skills? Sixty 4- to 5½-year-old children from middle SES families with Dutch as their first language wrote their proper name and named letters. For each child we created unique sets of words with and without the child’s first letter of the name to test spelling skills and phonemic sensitivity. Name writing correlated with children’s knowledge of the first letter of the name and phonemic sensitivity for the sound of the first letter of the name. Hierarchical regression analysis makes plausible that both knowledge of the first letter’s name and phonemic sensitivity for this letter explain why name writing results in phonetic spelling with the name letter. Practical implications of the findings are discussed