Splenic Rupture in a COVID-19 Patient – A Case Report

Background: It is well known that the Coronavirus disease 2019 (COVID-19) causes coagulation changes, requiring frequent monitoring for potential sequelae such as myocardial infarction and stroke. Non-traumatic splenic rupture is a rare and poorly understood occurrence in the clinical setting. Possible causes of nontraumatic splenic rupture include neoplasm, infection, inflammatory disease, iatrogenic and mechanical causes. Furthermore, increased intrasplenic tension, increased abdominal pressure, and thrombotic vascular occlusion are possible mechanisms. The Case: We report a case of splenic rupture in a COVID-19 patient. Our patient was a 52-year-old black man, presenting with diarrhea and moderate dyspnea, who was found to be COVID-19 positive. He had a past medical history significant for end-stage renal disease, chronic anemia, and aortic valve replacement. In an otherwise uneventful, 7-day hospital course, the patient’s stay abruptly resulted in a nontraumatic splenic rupture and demise. In this report, we have evaluated the likelihood of COVID-19 causing splenic rupture in a patient with no prior splenic disease. Conclusion: This case highlights the possibility of splenic rupture in otherwise normally recovering COVID-19 patients, particularly in the presence of comorbid conditions of renal failure and anticoagulation, with increased abdominal pressure during routine defecation. This information may assist in furthering the pathophysiology of COVID-19 and its life-threatening complications. In patients with COVID-19, non-traumatic splenic rupture should be considered as one of the differential diagnoses in patients who present with abdominal pain and early recognition of the same, owing to a high index of suspicion, can be lifesaving

Variability of Microbial Particulate ATP Concentrations in Subeuphotic Microbes Due to Underlying Metabolic Strategies in the South Pacific Ocean

Adenosine triphosphate (ATP) is the primary energy storage molecule in metabolic pathways. It is common in marine studies to use particulate ATP (PATP) concentrations as representative of microbial biomass. However, there is growing evidence from culture studies, models, and transcriptional data that PATP concentration varies across microbes and conditions, thus compromising interpretations in environmental settings. Importantly, there is a lack of open ocean studies assessing variations in PATP concentrations and thus a deficiency of information on the key biogeochemical drivers for variability in microbial PATP independent of biomass. In sampling the U.S. GO-SHIP P06E zonal transect (32.5°S) across the eastern South Pacific, from the subtropical gyre to the upwelling waters off Chile, we conducted the first comprehensive transect survey quantifying PATP. PATP concentrations increased toward the upwelling region of the transect, but varied vertically when normalized against three measures of biomass: particulate phosphorus, microbial abundance, and microbial biovolume. Generally, greater biomass-normalized PATP concentrations were observed below the deep chlorophyll maximum. Subdividing the P06E transect into four biogeochemical regimes highlighted distinct metabolic strategies used by microbes. Between these regimes, we found PATP concentrations were representative of biomass in upper surface waters. However, below the deep chlorophyll maximum we observed higher biomass normalized PATP concentrations that we hypothesize were due to less availability of energy sources in those subeuphotic zone waters and abundances of chemoautotrophs in the microbial community. This finding suggests that stored energy was more important for these deeper microbes

Filtration efficiency of air conditioner filters and face masks to limit exposure to aerosolized algal toxins

Harmful algal blooms (HABs) can generate toxins that can be aerosolized and negatively impact human health through inhalation. HABs are often found in waterways near residences, therefore, aerosolized HAB toxins can potentially affect both indoor and outdoor air quality. Given that HABs are predicted to increase worldwide, effective mitigation strategies are needed to prevent the inhalation of aerosolized HAB toxins. In this work, we characterized both the particle filtration efficiency using particle sizing instruments as well as the mass concentration of different congeners of aerosolized microcystin (MC) toxins that penetrate through commercially available face masks and air conditioner (AC) filters. Particles were generated from cultures of the toxin-producing cyanobacteria Microcystis aeruginosa. Hydrophobic congeners of microcystin including MC-LF and MC-LW were enriched in aerosols compared to water, with MC-LR being the most abundant, which has implications for the toxicity of inhalable particles generated from HAB-contaminated waters. Particle transmission efficiencies and toxin filtration efficiencies scaled with the manufacturer-provided filter performance ratings. Up to 80% of small, microcystin-containing aerosols were transmitted through AC filters with low filter performance ratings. In contrast, both face masks as well as AC filters with high filter performance ratings efficiently removed toxin-containing particles to below limits of quantification. Our findings suggest that face masks and commercially available AC filters with high filtration efficiency ratings are suitable mitigation strategies to avoid indoor and outdoor air exposure to aerosolized HAB toxins. This work also has relevance for reducing airborne exposure to other HAB toxins, non-HAB toxins, pathogens, and viruses, including SARS-CoV-2, the virus responsible for the COVID-19 pandemic

Structural changes in commercial agriculture

The basic idea of the conference on Structural Changes in Commercial Agriculture was planted in the spring of 1964 by Earl 0. Heady. He outlined for the North Central Farm Management Research Committee his concern about the kind and amount of response to both current and prospective structural changes in the commercial farm firm. Many changes represent adjustments to technological and other innovations originating in marketing, research, and educational agencies serving farmers.https://lib.dr.iastate.edu/card_reports/1025/thumbnail.jp

Pathogenic <i>SPTBN1</i> variants cause an autosomal dominant neurodevelopmental syndrome

SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin have defects in cortical organization, developmental delay and behavioral deficiencies. These phenotypes, while less severe, are observed in haploinsufficient animals, suggesting that individuals carrying heterozygous SPTBN1 variants may also show measurable compromise of neural development and function. Here we identify heterozygous SPTBN1 variants in 29 individuals with developmental, language and motor delays; mild to severe intellectual disability; autistic features; seizures; behavioral and movement abnormalities; hypotonia; and variable dysmorphic facial features. We show that these SPTBN1 variants lead to effects that affect βII-spectrin stability, disrupt binding to key molecular partners, and disturb cytoskeleton organization and dynamics. Our studies define SPTBN1 variants as the genetic basis of a neurodevelopmental syndrome, expand the set of spectrinopathies affecting the brain and underscore the critical role of βII-spectrin in the central nervous system

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits:report of 25 new individuals and review of the literature

TBR1, a T-box transcription factor expressed in the cerebral cortex, regulates the expression of several candidate genes for autism spectrum disorders (ASD). Although TBR1 has been reported as a high-confidence risk gene for ASD and intellectual disability (ID) in functional and clinical reports since 2011, TBR1 has only recently been recorded as a human disease gene in the OMIM database. Currently, the neurodevelopmental disorders and structural brain anomalies associated with TBR1 variants are not well characterized. Through international data sharing, we collected data from 25 unreported individuals and compared them with data from the literature. We evaluated structural brain anomalies in seven individuals by analysis of MRI images, and compared these with anomalies observed in TBR1 mutant mice. The phenotype included ID in all individuals, associated to autistic traits in 76% of them. No recognizable facial phenotype could be identified. MRI analysis revealed a reduction of the anterior commissure and suggested new features including dysplastic hippocampus and subtle neocortical dysgenesis. This report supports the role of TBR1 in ID associated with autistic traits and suggests new structural brain malformations in humans. We hope this work will help geneticists to interpret TBR1 variants and diagnose ASD probands

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies

Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function or a gain-of-function of the voltage-gated K+ channel Kv1.2, were described to cause a new molecular entity within the epileptic encephalopathies. Here, we report a cohort of 23 patients (eight previously described) with epileptic encephalopathy carrying either novel or known KCNA2 mutations, with the aim to detail the clinical phenotype associated with each of them, to characterize the functional effects of the newly identified mutations, and to assess genotype–phenotype associations. We identified five novel and confirmed six known mutations, three of which recurred in three, five and seven patients, respectively. Ten mutations were missense and one was a truncation mutation; de novo occurrence could be shown in 20 patients. Functional studies using a Xenopus oocyte two-microelectrode voltage clamp system revealed mutations with only loss-of-function effects (mostly dominant-negative current amplitude reduction) in eight patients or only gain-of-function effects (hyperpolarizing shift of voltage-dependent activation, increased amplitude) in nine patients. In six patients, the gain-of-function was diminished by an additional loss-of-function (gain-and loss-of-function) due to a hyperpolarizing shift of voltage-dependent activation combined with either decreased amplitudes or an additional hyperpolarizing shift of the inactivation curve. These electrophysiological findings correlated with distinct phenotypic features. The main differences were (i) predominant focal (loss-of-function) versus generalized (gain-of-function) seizures and corresponding epileptic discharges with prominent sleep activation in most cases with loss-of-function mutations; (ii) more severe epilepsy, developmental problems and ataxia, and atrophy of the cerebellum or even the whole brain in about half of the patients with gain-of-function mutations; and (iii) most severe early-onset phenotypes, occasionally with neonatal onset epilepsy and developmental impairment, as well as generalized and focal seizures and EEG abnormalities for patients with gain- and loss-of-function mutations. Our study thus indicates well represented genotype–phenotype associations between three subgroups of patients with KCNA2 encephalopathy according to the electrophysiological features of the mutations

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

peer reviewedMany countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 of 259 patients (20%) with late diagnosed PKU were immigrants, and 145 of the 259 (55%) were born before NBS or in a location without NBS. © 2021 The Author