Modulating Survivin as a Radioresistant Factor, Caspase-3, and Apoptosis by Omega-3 Docosahexaenoic Acid Sensitizes Mutant-p53 Colorectal Cancer Cells to γ-Irradiation

Cancer Biotherapy and Radiopharmaceuticals, Volume 33, Issue 9, Page 387-395, November 2018.


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Modulating Survivin as a Radioresistant Factor, Caspase-3, and Apoptosis by Omega-3 Docosahexaenoic Acid Sensitizes Mutant-p53 Colorectal Cancer Cells to γ-Irradiation

Cancer Biotherapy and Radiopharmaceuticals, Volume 33, Issue 9, Page 387-395, November 2018.


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A de Novo EDA-Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia

In this study, we present a detailed phenotype description and genetic elucidation of the first case of X-linked hypohidrotic ectodermal dysplasia in the shorthaired standard Dachshund. This condition is characterized by partial congenital hypotrichosis, missing and malformed teeth and a lack of eccrine sweat glands. Clinical signs including dental radiographs and histopathological findings were consistent with ectodermal dysplasia. Pedigree analysis supported an X-recessive mode of inheritance. Whole-genome sequencing of one affected puppy and his dam identified a 1-basepair deletion within the ectodysplasin-A (EDA) gene (CM000039.3:g.54509504delT, c.458delT). Sanger sequencing of further family members confirmed the EDA:c.458delT-variant. Validation in all available family members, 37 unrelated shorthaired standard Dachshunds, 128 further Dachshunds from all other coat and size varieties and samples from 34 dog breeds revealed the EDA:c.458delT-variant to be private for this family. Two heterozygous females showed very mild congenital hypotrichosis but normal dentition. Since the dam is demonstrably the only heterozygous animal in the ancestry of the affected animals, we assume that the EDA:c.458delT-variant arose in the germline of the granddam or in an early embryonic stage of the dam. In conclusion, we detected a very recent de-novo EDA mutation causing X-linked hypohidrotic ectodermal dysplasia in the shorthaired standard Dachshund.

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Nuclear Transcriptomes of the Seven Neuronal Cell Types That Constitute the Drosophila Mushroom Bodies

The insect mushroom body (MB) is a conserved brain structure that plays key roles in a diverse array of behaviors. The Drosophila melanogaster MB is the primary invertebrate model of neural circuits related to memory formation and storage, and its development, morphology, wiring, and function has been extensively studied. MBs consist of intrinsic Kenyon Cells that are divided into three major neuron classes (, α'/β' and α/β) and 7 cell subtypes (d, m, α'/β'ap, α'/β'm, α/βp, α/βs and α/βc) based on their birth order, morphology, and connectivity. These subtypes play distinct roles in memory processing, however the underlying transcriptional differences are unknown. Here, we used RNA sequencing (RNA-seq) to profile the nuclear transcriptomes of each MB neuronal cell subtypes. We identified 350 MB class- or subtype-specific genes, including the widely used α/β class marker Fas2 and the α'/β' class marker trio. Immunostaining corroborates the RNA-seq measurements at the protein level for several cases. Importantly, our data provide a full accounting of the neurotransmitter receptors, transporters, neurotransmitter biosynthetic enzymes, neuropeptides, and neuropeptide receptors expressed within each of these cell types. This high-quality, cell type-level transcriptome catalog for the Drosophila MB provides a valuable resource for the fly neuroscience community.

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iProteinDB: An Integrative Database of Drosophila Post-translational Modifications

Post-translational modification (PTM) serves as a regulatory mechanism for protein function, influencing their stability, interactions, activity and localization, and is critical in many signaling pathways. The best characterized PTM is phosphorylation, whereby a phosphate is added to an acceptor residue, most commonly serine, threonine and tyrosine in metazoans. As proteins are often phosphorylated at multiple sites, identifying those sites that are important for function is a challenging problem. Considering that any given phosphorylation site might be non-functional, prioritizing evolutionarily conserved phosphosites provides a general strategy to identify the putative functional sites. To facilitate the identification of conserved phosphosites, we generated a large-scale phosphoproteomics dataset from Drosophila embryos collected from six closely-related species. We built iProteinDB (https://ift.tt/2KAr9ov), a resource integrating these data with other high-throughput PTM datasets, including vertebrates, and manually curated information for Drosophila. At iProteinDB, scientists can view the PTM landscape for any Drosophila protein and identify predicted functional phosphosites based on a comparative analysis of data from closely-related Drosophila species. Further, iProteinDB enables comparison of PTM data from Drosophila to that of orthologous proteins from other model organisms, including human, mouse, rat, Xenopus tropicalis, Danio rerio, and Caenorhabditis elegans.

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Part-Time Paramedic - Upper Kittitas County Medic One

PLEASE VISIT https://ift.tt/2z253IP for a full application! Medic One is the sole ALS provider and the primary transport agency for the northwestern part of Kittitas County, Washington, serving the communities of Snoqualmie Pass, Lake Kachess, Easton, Roslyn, Ronald, Cle Elum, and South Cle Elum, and the surrounding rural and wilderness areas, including a forty-one mile section of Interstate ...

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Retired paramedic writes novel inspired by experiences on the job

Albert Kreitz wrote "Partners for Life," which is based on his experience working as an EMT in Los Angeles

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Emergency Reporting to Provide Microsoft Azure Gov-Hosted Fire and EMS Records Management and Prevention Software to All United States Army Bases

Bellingham, WA – Emergency Reporting (ER), the leading cloud-based reporting and records management software (RMS) for Fire and EMS agencies, today announced that in collaboration with E-9 Corporation (E-9), the company has been awarded an enterprise contract with the United States Army. Under the contract, ER will expand its current support of the U.S. Army fire departments to include all...

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Convenient Formulation of 68Ga-BPAMD Patient Dose Using Lyophilized BPAMD Kit and 68Ga Sourced from Different Commercial Generators for Imaging of Skeletal Metastases

Cancer Biotherapy and Radiopharmaceuticals, Ahead of Print.


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Once is enough for acute exercise benefits on insulin sensitivity

The Journal of Physiology, Volume 0, Issue ja, -Not available-.


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Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome

Clinical Genetics, Volume 0, Issue ja, -Not available-.


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Table of Contents, Volume 176A, Number 10, October 2018

American Journal of Medical Genetics Part A, Volume 176, Issue 10, Page 2045-2048, October 2018.


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Club foot in association with the 22q11.2 deletion syndrome: An observational study

American Journal of Medical Genetics Part A, Volume 176, Issue 10, Page 2135-2139, October 2018.


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The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome

American Journal of Medical Genetics Part A, Volume 176, Issue 10, Page 2167-2171, October 2018.


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Providers Unprepared for Interpreting Unsolicited Genomic Results: Direct‐to‐consumer testing has increased the number of individuals getting genetic testing in the absence of medical concerns yet turning to their providers for interpretation of results

American Journal of Medical Genetics Part A, Volume 176, Issue 10, Page 2051-2052, October 2018.


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Novel Gene‐Editing Technique Cures β‐Thalassemia in Utero: A novel peptide nucleic acid‐based gene–editing technique using a nanoparticle delivery system seemingly cured beta thalassemia in fetal mice

American Journal of Medical Genetics Part A, Volume 176, Issue 10, Page 2052-2053, October 2018.


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Publication schedule for 2018

American Journal of Medical Genetics Part A, Volume 176, Issue 10, Page 2049-2049, October 2018.


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Molecular genetics of 22q11.2 deletion syndrome

American Journal of Medical Genetics Part A, Volume 176, Issue 10, Page 2070-2081, October 2018.


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Cover Image, Volume 176A, Number 10, October 2018

American Journal of Medical Genetics Part A, Volume 176, Issue 10, Page i-i, October 2018.


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22q11.2 deletion syndrome: A tiny piece leading to a big picture

American Journal of Medical Genetics Part A, Volume 176, Issue 10, Page 2055-2057, October 2018.


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In This Issue

American Journal of Medical Genetics Part A, Volume 176, Issue 10, Page 2054-2054, October 2018.


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What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

American Journal of Medical Genetics Part A, Volume 176, Issue 10, Page 2058-2069, October 2018.


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EMS World Expo Quick Take: Dozens of tips for EMS educators and training officers

Rom Duckworth shares his top tips, ideas and resources for improving initial and ongoing EMS education

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Convenient Formulation of 68Ga-BPAMD Patient Dose Using Lyophilized BPAMD Kit and 68Ga Sourced from Different Commercial Generators for Imaging of Skeletal Metastases

Cancer Biotherapy and Radiopharmaceuticals, Ahead of Print.


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Naked EMT instruction: How to deliver powerful presentations

Moving away from the National Standard Curriculum

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EMS World Expo Quick Take: How EMS can prepare for a mass gathering to become an MCI

Crowd size, location and similar event intelligence can help predict patient load and MCI response needs at a mass gathering

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Prevalence and Mechanisms of Carbapenem Resistance Among Acinetobacter baumannii Clinical Isolates in Egypt

Microbial Drug Resistance, Ahead of Print.


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Naked EMT instruction: How to deliver powerful presentations

Moving away from the National Standard Curriculum

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Ohio responders equipped with ballistic gear

Miami Township firefighters and paramedics will use the ballistic vests on calls where there might be a weapon at the scene

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A tissue-specific enhancer of the C. elegans nhr-67/tailless gene drives coordinated expression in uterine stem cells and the differentiated anchor cell

Publication date: Available online 4 November 2018

Source: Gene Expression Patterns

Author(s): Shari Bodofsky, Katarina Liberatore, Lauren Pioppo, Dominic Lapadula, Lily Thompson, Susanna Birnbaum, George McClung, Akshara Kartik, Sheila Clever, Bruce Wightman

Abstract

The nhr-67 nuclear receptor gene of Caenorhabditis elegans encodes the ortholog of the Drosophila tailless and vertebrate Tlx genes. In C. elegans, nhr-67 plays multiple roles in the development of the uterus during L2 and L3 larval stages. Four pre-VU cells are born in the L2 stage and form the precursor complement for the ventral surface of the mature uterus. One of the four pre-VU cells becomes the anchor cell (AC), which exits the cell cycle and differentiates, while the remaining three VU cells serve as stem cells that populate the ventral uterus. The nhr-67 gene functions in the development of both VU cell lineages and AC differentiation. Hypomorphic mutations in nhr-67 identify a 276bp region of the distal promoter that is sufficient to activate nhr-67 expression in pre-VU cells and the AC. The 276bp region includes 8 conserved potential cis-acting sites, including two E boxes and a nuclear receptor binding site. Mutational analysis demonstrates that the two E boxes are required for expression of nhr-67 in uterine precursor cells. The E/daughterless ortholog HLH-2 binds these sites as a homodimer, thus playing a central role in activating nhr-67 expression in the uterine precursors. At least two other binding activities, one of which may be the nhr-25/Ftz-F1 nuclear receptor transcription factor, also contribute to uterine precursor cell expression. The organization of the nhr-67 uterine precursor enhancer is compared to similar conserved enhancers in the egl-43, lag-2, and lin-3 genes, which contain the same HLH-2-binding E boxes and are similarly expressed in both pre-VU cells and the AC. This basic regulatory module allows the coordinated expression of at least four genes. Expression of genes in different cells that must coordinate to form a mature organ is driven by a shared set of promoter elements, which integrate multiple transcription factor inputs.

Graphical abstract

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Psychotropics, Antidepressants, and Visceral Analgesics in Functional Gastrointestinal Disorders

Abstract

Purpose of Review

The functional gastrointestinal disorders, or disorders of gut-brain interaction as defined by the Rome IV criteria, are the most common diagnostic entities in gastroenterology. Treatments that address the dysregulation of gut-brain interaction with these disorders are increasingly gaining interest as a better option than for example traditional analgesics, particularly opioids. Antidepressants, antianxiety and antipsychotic medications, and visceral analgesics, now termed neuromodulators, are included in this update addressing the evidence of treatment benefit in disorders of brain-gut interaction.

Recent Findings

By a careful selection based on a multidimensional clinical profile, a decreased symptom burden, particularly regarding abdominal pain, nausea, and vomiting, as well as improved social function and quality of life, can be obtained by use of neuromodulators. There is good evidence for the peripheral neuromodulators from studies in bowel disorders, and the central neuromodulators both from indirect evidence in chronic pain disorders as well as selected disorders of brain-gut interaction.

Summary

Basic knowledge about the pharmacologic properties and clinical use of neuromodulators in disorders of brain-gut interaction improves the treatment outcome and avoids use of traditional analgesics.

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New Metrics in High-Resolution and High-Definition Anorectal Manometry

Abstract

Purpose of Review

To review recently published diagnostic methods that use high-resolution (HR-) or high-definition- (HD-) anorectal manometry (ARM) techniques.

Recent Findings

The integrated pressurized volume (IPV) is a new measure based on spatiotemporal plots obtained from HR-ARM. The IPV may be clinically useful for improving the prediction of abnormal balloon expulsion test in patients with constipation and for discriminating patients with anorectal disorders from asymptomatic controls. Combination of IPV parameters was superior to conventional manometric parameters in predicting the responsiveness to biofeedback therapy. Moreover, several novel parameters including the HR-ARM resting integral, HR-ARM squeeze profile, and anorectal asymmetry index may each be useful as predictive factors for identifying patients with fecal incontinence.

Summary

HR- and HD-ARM are increasingly performed worldwide for evaluation of anorectal function. Here, we describe new metrics whose clinical significance has not been fully established. Further standardization and validation of these metrics could provide clinically important new information and could help improve our understanding of the pathophysiology of anorectal disorders.

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Update on the Diagnosis and Management of Wilson Disease

Abstract

Purpose of Review

Exciting developments relating to Wilson disease (WD) have taken place with respect to both basic biological and clinical research. This review critically examines some of these findings and considers their implications for current thinking about WD. It is not a comprehensive review of WD as a clinical disorder.

Recent Findings

The structure of the gene product of ATP7B, abnormal in WD, is being worked out in detail, along with a broader description of how the protein ATP7B (Wilson ATPase) functions in cells including enterocytes, not only in relation to copper disposition but also to lipid synthesis. Recent population studies raise the possibility that WD displays incomplete penetrance. Innovative screening techniques may increase ascertainment. New strategies for diagnosing and treating WD are being developed. Several disorders have been identified which might qualify as WD-mimics.

Summary

WD can be difficult to diagnose and treat. Insights from its pathobiology are providing new options for managing WD.

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