89 research outputs found

    Clinical and radiological profile of patients with cerebral venous and sinus thrombosis in a tertiary care hospital

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    Background: Cerebral venous and sinus thrombosis (CVT) is one of the common causes of stroke in young people. It is a relatively uncommon neurologic disorder that is potentially reversible with prompt diagnosis and appropriate medical care. The purpose of this study is to identify the clinical and radiological features aiding diagnosis of cortical vein thrombosisMethods: A cross-sectional study was conducted from November 2015 to May 2017 in tertiary care centre in Manipal after institutional ethical clearance. A total of 46 patients diagnosed with CVT were included in the study. Clinical symptoms and signs at admission and radiological features were documented.Results: A total of 46 subjects were included. Males (53.3%) were more affected than females (46.7%), mostly in the 3rd decade. The most common risk factors were polycythaemia (31.1%) and oral contraceptive pill intake (17.7%). Headache was the most common symptom followed by paralysis and seizures. Multiple sinuses were involved in two-thirds of the patients. Superior sagital sinus thrombosis was the most common sinus involved followed by transverse sinus thrombosisConclusions: The most common clinical feature is headache followed by paresis and seizures. Superior saggital sinus thrombosis is more common than transverse and sigmoid sinus thrombosis in Indian population. Normal CT scan of brain doesn’t rule out cerebral venous sinus thrombosis

    Differential Roles for Octanoylated and Decanoylated Ghrelins in Regulating Appetite and Metabolism

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    Since its identification in 1999, ghrelin has been identified in all vertebrate groups. The “active core” of ghrelin is highly conserved among vertebrates, suggesting its biological activity to be also conserved. In fish, both acylated forms of ghrelin have been identified; however, the ratio of the ghrelin-C8 to ghrelin-C10 is not as great as observed in mammals. In the tilapia (Oreochromis mossambicus), ghrelin-C10 is the major form of ghrelin. Since fish are known to inhabit every ecological niche on earth, studies on fish have provided valuable insight into vertebrate physiology in general; it is likely that understanding the role of both acylated forms of ghrelin, in more detail, in fish will result into novel insights in the biology of ghrelin within vertebrates. In this paper we discuss ghrelin's role in regulating appetite and metabolism in fish, in general, and provide evidence that the two tilapia ghrelins exhibit different biological roles

    Phosphorylation Alters the Properties of Pol eta: Implications for Translesion Synthesis

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    There are significant ambiguities regarding how DNA polymerase eta is recruited to DNA lesion sites in stressed cells while avoiding normal replication forks in non-stressed cells. Even less is known about the mechanisms responsible for Pol eta-induced mutations in cancer genomes. We show that there are two safeguards to prevent Pol eta from adventitious participation in normal DNA replication. These include sequestration by a partner protein and low basal activity. Upon cellular UV irradiation, phosphorylation enables Pol eta to be released from sequestration by PDIP38 and activates its polymerase function through increased affinity toward monoubiquitinated proliferating cell nuclear antigen (Ub-PCNA). Moreover, the high-affinity binding of phosphorylated Pol eta to Ub-PCNA limits its subsequent displacement by Pol delta. Consequently, activated Pol eta replicates DNA beyond the lesion site and potentially introduces clusters of mutations due to its low fidelity. This mechanism could account for the prevalence of Pol eta signatures in cancer genome

    Acute abdominal pain presenting as a rare appendiceal duplication: a case report

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    <p>Abstract</p> <p>Introduction</p> <p>Appendiceal duplication is a rare anomaly that can manifest as right lower quadrant pain. There are several variations described for this condition. We recommend aggressive operative management should this anatomical variation present in the presence of acute appendicitis.</p> <p>Case presentation</p> <p>We report the case of a 15-year-old African American girl who presented to our hospital with right lower quadrant pain and was subsequently found to have appendiceal duplication.</p> <p>Conclusion</p> <p>There are two categorical systems that have described and stratified appendiceal duplication. Both classification systems have been outlined and referenced in this case report. A computed tomography scan has been included to provide a visual aid to help identify true vermiform appendiceal duplication. The presence of this anatomical abnormality is not a reason for surgical intervention; however, should this be found in the setting of acute appendicitis, aggressive resection of both appendices is mandatory.</p

    Treating schizophrenia with cariprazine : from clinical research to clinical practice. Real world experiences and recommendations from an International Panel

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    Altres ajuts: Supported by an unrestricted grant from Recordati.Management of schizophrenia is sub-optimal in many patients. Targeting negative symptoms, among the most debilitating aspects of schizophrenia, together with positive symptoms, can result in significant functional benefits and dramatically improve quality of life for patients and their carers. Cariprazine, a partial agonist of the dopamine receptors D2/D3 has demonstrated effectiveness across symptom domains in clinical trials, particularly on negative symptoms. To obtain a broader insight from clinicians with specific experience with cariprazine, on how it affects patient populations outside the clinical trial setting. The panel addressed a series of psychopharmacologic topics not comprehensively addressed by the evidence-based literature, including characteristics of patients treated, dosing and switching strategies, duration of therapy, role of concomitant medications and tolerability as well as recommendations on how to individualize cariprazine treatment for patients with schizophrenia. Patients recommended for cariprazine treatment are those with first episodes of psychosis, predominant negative symptoms (maintenance/acute phase) and significant side effects (metabolic side effects, hyperprolactinemia, sedation) with other antipsychotics. When the long-term treatment of a lifetime illness is adequately weighted, cariprazine becomes one of the first-line medications, not only for patients with predominant negative symptoms but also for those with relatively severe positive symptoms, especially if they are at the first episodes and if a specific medication is added for symptoms such as agitation or insomnia. For instance, patients with agitation may also benefit from the combination of cariprazine and a benzodiazepine or another sedating agent. Cariprazine may be prescribed as add-on to medications such as clozapine, when that medication alone is ineffective for negative symptoms, and sometimes the first may be discontinued or its dose lowered, after a period of stability, leaving the patient on a better tolerated antipsychotic regimen. Based on real-world clinical experience, the panel considered that cariprazine, with its distinct advantages including pharmacokinetics/pharmacodynamics, good efficacy and tolerability, represents a drug of choice in the long-term management of schizophrenia not only for patients with predominant negative symptoms but also for those with positive symptoms

    NCBI's Virus Discovery Hackathon:Engaging Research Communities to Identify Cloud Infrastructure Requirements

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    A wealth of viral data sits untapped in publicly available metagenomic data sets when it might be extracted to create a usable index for the virological research community. We hypothesized that work of this complexity and scale could be done in a hackathon setting. Ten teams comprised of over 40 participants from six countries, assembled to create a crowd-sourced set of analysis and processing pipelines for a complex biological data set in a three-day event on the San Diego State University campus starting 9 January 2019. Prior to the hackathon, 141,676 metagenomic data sets from the National Center for Biotechnology Information (NCBI) Sequence Read Archive (SRA) were pre-assembled into contiguous assemblies (contigs) by NCBI staff. During the hackathon, a subset consisting of 2953 SRA data sets (approximately 55 million contigs) was selected, which were further filtered for a minimal length of 1 kb. This resulted in 4.2 million (Mio) contigs, which were aligned using BLAST against all known virus genomes, phylogenetically clustered and assigned metadata. Out of the 4.2 Mio contigs, 360,000 contigs were labeled with domains and an additional subset containing 4400 contigs was screened for virus or virus-like genes. The work yielded valuable insights into both SRA data and the cloud infrastructure required to support such efforts, revealing analysis bottlenecks and possible workarounds thereof. Mainly: (i) Conservative assemblies of SRA data improves initial analysis steps; (ii) existing bioinformatic software with weak multithreading/multicore support can be elevated by wrapper scripts to use all cores within a computing node; (iii) redesigning existing bioinformatic algorithms for a cloud infrastructure to facilitate its use for a wider audience; and (iv) a cloud infrastructure allows a diverse group of researchers to collaborate effectively. The scientific findings will be extended during a follow-up event. Here, we present the applied workflows, initial results, and lessons learned from the hackathon

    Inherited chromosomally integrated HHV-6 demonstrates tissue-specific RNA expression in vivo

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    Thesis (Master's)--University of Washington, 2019Human herpesvirus-6A and 6B (HHV-6A, HHV-6B) are highly prevalent viruses unique in that they, besides Epstein-Barr virus, are the only human herpesviruses capable of chromosomal integration. When a chromosomal integration event happens in a germ cell the resulting progeny will have one copy of the virus in all of their cells, referred to as inherited chromosomally integrated human herpesvirus-6 (iciHHV-6). Active HHV-6 infections in those who are iciHHV-6 positive confound current DNA based PCR assays, highlighting a necessity for mRNA-based assays. As the transcriptional state of iciHHV-6 has not been defined in vivo, it is unclear which HHV-6 genes best determine actively infected iciHHV-6 individuals. Here, we screened DNA- Seq and RNA-Seq data for 650 individuals available through the Genotype-Tissue Expression (GTEx) project and identified 2 iciHHV-6A and 4 iciHHV-6B positive candidates. When corresponding tissue-specific gene expression signatures were analyzed, the HHV-6 genes U90 and U100 were expressed in the brain, testis, breast, adrenal gland, lungs, salivary gland, esophagus, skeletal muscle, colon, tibial nerve and artery, adipose tissue, heart, skin, and thyroid. Additionally, high levels of HHV-6 gene expression were detected in the brain, testis, esophagus, and adrenal gland. We also analyzed data from the Synapse Mount Sinai Brain Bank and found similar brain tissue expression in the 4 iciHHV-6 positive samples. We found no expression of U38, a viral polymerase subunit found to be expressed in HHV-6 active infections, in GTEx whole blood RNAseq samples. However, using an RT-qPCR assay specific to the HHV-6A and -6B U38 genes, we saw that U38 was expressed in some iciHHV-6 positive PBMC samples submitted for iciHHV-6 testing

    Orthodontic uprighting of severely impacted mandibular permanent second molar with TMA spring

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    Treating impacted teeth is very challenging for an orthodontist. Although canine impactions are common, second molar impactions are also encountered in orthodontics. The fate of impacted second molar depends on various factors such as the degree of its inclination and position of third molars. A case of molar uprighting using a 0.017″ × 0.025″ titanium molybdenum alloy uprighting spring is discussed in this case report. Treatment included surgical exposure and crown lengthening along with orthodontically assisted eruption
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