Samuelsenmccabe7168

© BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.A 51-year-old woman had been diagnosed and treated for schizophrenia for 10 years. Two weeks prior to admission, she developed headache and diplopia. Then, she was found unconscious and was sent to the hospital. A tumour in the left frontal lobe of the brain, causing brain herniation, was diagnosed and surgical excision of tumour was performed immediately. The psychotic symptoms of the patient were completely resolved after surgery. The histological diagnosis was meningioma. This case demonstrates an uncommon presentation of meningioma, the most common primary brain tumour. Patients presenting with psychotic symptoms may be misdiagnosed with schizophrenia, when a tumour is present, allowing the tumour to grow and causing associated complications. Early diagnosis and treatment could prevent mortality and morbidity. The treating physician should be aware of organic possibilities and carefully search for atypical presentations of psychiatric disorders in their patients. © BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.This is a case of a young healthy woman who presented with left groin pain. On work-up, she was found to have a large, well-defined mass in the ischiorectal fossa with a percutaneous biopsy of only a benign mesenchymal mass. A multidisciplinary team of surgeons (ie, colorectal, orthopaedic, vascular and urological surgery) collaborated in planning and performing the extirpation of the tumour. Final histopathology identified the tumour to be an aggressive angiomyxoma, a benign tumour with a high predilection for local recurrence. The patient had an uneventful postoperative course, with maintenance of good functional status. © BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.We report an 86-year-old woman who was diagnosed with multiple myeloma (MM) and was receiving chemotherapy since the age of 82. A high echoic mass attached to the mitral valve was observed on transthoracic echocardiography 4 years after the treatment. The possibility of malignancy could not be ruled out, and hence, the mass was excised surgically. Pathologically, most of the mass consisted of calcified lesion without tumour tissue, and these findings were not inconsistent with calcified amorphous tumour (CAT). This case suggests that CAT may be associated with MM and has been reported after a thorough literature review. © BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.A 40-year-old man, with a history of metastatic parathyroid carcinoma, status post primary tumour resection and lung metastasectomy, was hospitalised for persistent severe hypercalcaemia and elevated parathyroid hormone levels despite conventional management and escalating doses of cinacalcet. A single dose (120 mg) of denosumab was given and his calcium level plummeted from 14.8 mg/dL to 5.5 mg/dL. After second lung metastasectomy, he developed prolonged hypocalcaemia that required calcium and vitamin D supplements for more than 3 years. In patients with severe hypercalcaemia refractory to conventional therapies, denosumab has been used off-label with some success. A known side effect of denosumab is hypocalcaemia, which is often short-lived. The risk of prolonged hypocalcaemia should be fully evaluated before using denosumab preoperatively, especially in patients with renal insufficiency, prolonged hyperparathyroidism or anticipated tumour debulking surgery. © BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.A 30-year-old male American football player presented to the acute medical unit with left-hand and hemifacial spasms. History and examination revealed hemifacial spasms in keeping with seizure-like activity possibly due to symptomatic hypocalcaemia. Subsequent investigations revealed an adjusted calcium of 1.87 mmol/L and, hence, he was managed with intravenous calcium replacement. He presented two further times in a 1-month period, with subjective limb weakness, despite normal adjusted calcium. During his third admission, he developed slurred speech and a marked facial droop, with absence of power in the right upper limb. Imaging revealed acute and old infarctions in the left middle cerebral artery territory and appearances consistent with left internal carotid artery dissection. This presentation of arterial stroke is atypical but with potentially grave consequences if missed. There is limited literature on the presentation of hemifacial spasm, and its association with ischaemic or haemorrhagic stroke represents a key learning point. © BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.In fission yeast and plants, RNA-processing pathways contribute to heterochromatin silencing, complementing well-characterized pathways of transcriptional repression. However, it was unclear whether this additional level of regulation occurs in metazoans. In a genetic screen, we uncovered a pathway of silencing in Caenorhabditis elegans somatic cells, whereby the highly conserved, RNA-binding complex LSM2-8 contributes to the repression of heterochromatic reporters and endogenous genes bearing the Polycomb mark H3K27me3. Importantly, the LSM2-8 complex works cooperatively with a 5'-3' exoribonuclease, XRN-2, and disruption of the pathway leads to selective mRNA stabilization. LSM2-8 complex-mediated RNA degradation does not target nor depend on H3K9me2/me3, unlike previously described pathways of heterochromatic RNA degradation. Up-regulation of lsm-8-sensitive loci coincides with a localized drop in H3K27me3 levels in the lsm-8 mutant. Put into the context of epigenetic control of gene expression, it appears that targeted RNA degradation helps repress a subset of H3K27me3-marked genes, revealing an unappreciated layer of regulation for facultative heterochromatin in animals. © 2019 Mattout et al.; Published by Cold Spring Harbor Laboratory Press.Eukaryotes deploy RNA-mediated gene silencing pathways to guard their genomes against selfish genetic elements, such as transposable elements and invading viruses. In plants, RNA-directed DNA methylation (RdDM) is used to silence selfish elements at the level of transcription. This process involves 24-nt short interfering RNAs (siRNAs) and longer noncoding RNAs to which the siRNAs base-pair. Recently, we showed that 24-nt siRNA biogenesis could be recapitulated in the test tube using purified enzymes, yielding biochemical answers to numerous questions left unresolved by prior genetic and genomic studies. Interestingly, each enzyme has activities that program what happens in the next step, thus channeling the RNAs within the RdDM pathway and restricting their diversion into alternative pathways. However, a similar mechanistic understanding is lacking for other important steps of the RdDM pathway. We discuss some of the steps most in need of biochemical investigation and important questions still in need of answers. S63845 mw © 2019 Singh and Pikaard; Published by Cold Spring Harbor Laboratory Press.Multiple laboratory developed tests and commercially available assays have emerged to meet diagnostic needs related to the SARS-CoV-2 pandemic. To date, there is limited comparison data for these different testing platforms. We compared the analytical performance of a laboratory developed test (LDT) developed in our clinical laboratory based on CDC primer sets and four commercially available, FDA emergency use authorized assays for SARS-CoV-2 (Cepheid, DiaSorin, Hologic Panther, and Roche Cobas) on a total of 169 nasopharyngeal swabs. The LDT and Cepheid Xpert Xpress SARS-CoV-2 assays were the most sensitive assays for SARS-CoV-2 with 100% agreement across specimens. The Hologic Panther Fusion, DiaSorin Simplexa, and Roche Cobas 6800 only failed to detect positive specimens near the limit of detection of our CDC-based LDT assay. All assays were 100% specific, using our CDC-based LDT as the gold standard. Our results provide initial test performance characteristics for SARS-CoV-2 RT-PCR and highlight the importance of having multiple viral detection testing platforms available in a public health emergency. Copyright © 2020 Lieberman et al.The emergence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) brought with it rapid development of both molecular and serologic assays for identification of COVID-19 infections. While Food and Drug Administration (FDA) emergency use authorization (EUA) is required for clinical application of SARS-CoV-2 molecular tests, submission for EUA is currently a voluntary process for manufacturers of serologic assays. The absence of FDA oversight of serologic tests is concerning, given that the commercially available serologic assays are highly variable, differing in their format, the antibody class detected, the targeted antigen and the acceptable specimen types. An added complication is the lack of a clear understanding for how such assays should be utilized and what the reported results ultimately indicate, or perhaps more importantly, what they do not indicate. Here, we provide a brief summary of the performance of a number of serologic assays reported in the literature, comment on what we do and do not know regarding our immune response to SARS-CoV-2, and provide a number of scenarios for which serologic testing will play a role in during our global response to this pandemic. Copyright © 2020 Theel et al.Streptococcus suis is an important pathogen of pigs but is also transmissible to humans with potentially fatal consequences. Among 29 serotypes currently recognized, some are clinically and epidemiologically more important than others. This is particularly true for serotypes 2 and 14 having a large impact on pig production and also on human health. Conventional PCR-based serotyping cannot distinguish between serotype 1/2 and serotype 2 and between serotype 1 and serotype 14. Although serotype 1/2 and serotype 2 have a very similar cps locus, they differ in a single nucleotide substitution at 483 nucleotide position of the cpsK gene. Similarly, serotypes 1 and 14 have a very similar cps locus, but also differ in the same nucleotide substitution of the cpsK gene. Fortunately, this cpsK 483G/C,T substitution can be detected by BstNI restriction endonuclease. A PCR-RFLP detection method amplifying a fragment of the cpsK gene digested by BstNI restriction endonuclease was developed and tested in reference strains of these serotypes and also in field isolates. Copyright © 2020 American Society for Microbiology.Lower respiratory tract infections including hospital acquired and ventilator associated pneumonia are common in hospitalized patient populations. Standard methods frequently fail to identify the infectious etiology due to the polymicrobial nature of respiratory specimens and necessity to order specific tests to identify viral agents. The potential severity of these infections combined with a failure to clearly identify the causative pathogen results in administration of empirical antibiotic agents based on clinical presentation and other risk factors. We examined the impact of the multiplexed, semi-quantitative BioFire® FilmArray® Pneumonia (PN) Panel test on laboratory reporting for 259 adult inpatients submitting bronchioalveolar lavage (BAL) specimens for laboratory analysis. The PN Panel demonstrated a combined 96.2% positive percent agreement (PPA) and 98.1% negative percent agreement (NPA) for the qualitative identification of 15 bacterial targets when compared to routine bacterial culture. Semi-quantitative values reported by the PN Panel were frequently higher than values reported by culture, resulting in semi-quantitative agreement (within the same log10 value) of 43.