1,874 results match your criteria Gardner Syndrome


Comparison of Ajmaline and Procainamide Provocation Tests in the Diagnosis of Brugada Syndrome.

JACC Clin Electrophysiol 2019 Apr 27;5(4):504-512. Epub 2019 Mar 27.

Division of Cardiology, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address:

Objectives: The authors studied the response rates and relative sensitivity of the most common agents used in the sodium-channel blocker (SCB) challenge.

Background: A type 1 Brugada electrocardiographic pattern precipitated by an SCB challenge confers a diagnosis of Brugada syndrome.

Methods: Patients undergoing an SCB challenge were prospectively enrolled across Canada and the United Kingdom. Read More

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http://dx.doi.org/10.1016/j.jacep.2019.01.026DOI Listing
April 2019
2 Reads

Analysis of oral bacterial communities: comparison of HOMI with a tree-based approach implemented in QIIME.

J Oral Microbiol 2019 1;11(1):1586413. Epub 2019 Apr 1.

Sjögren's Syndrome Clinic, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

Molecular taxonomic assignments in oral microbial communities have been made using probe-matching approaches, but never compared to those obtained by more readily accepted tree-based approaches.  To compare community composition profiles obtained from a probe-matching approach (HOMI) to those from a closed-ended tree-based approach (QIIME using the eHOMD database).  HOMIand QIIME were used for parallel analysis of ten mock community samples, and of 119 supragingival plaque samples from ecologically unique sites (sound tooth surfaces in healthy subjects, sound tooth surfaces in patients with primary Sjögren's Syndrome, and carious lesions in Sjögren's Syndrome patients). Read More

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https://www.tandfonline.com/doi/full/10.1080/20002297.2019.1
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http://dx.doi.org/10.1080/20002297.2019.1586413DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6450576PMC
April 2019
2 Reads

A Case Report on Gardner Syndrome With Dental Implant Treatment and a Long-Term Follow-Up.

J Oral Maxillofac Surg 2019 Mar 13. Epub 2019 Mar 13.

Associate Professor and Senior Consultant in General Pathology, Department of Clinical Pathology and Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden.

A case of Gardner syndrome (GS) in a 37-year-old woman is presented in which rehabilitation with dental implant treatment was followed for 7 years. The course of diagnostics and treatment is followed through an overview of 45 tissue biopsy and cytology samples during a period of 30 years. The patient was diagnosed with GS after a routine review of an oral panoramic radiograph presenting with multiple osteomas and multiple unerupted supernumerary teeth. Read More

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http://dx.doi.org/10.1016/j.joms.2019.03.002DOI Listing
March 2019
3 Reads

The role of stroma and epithelial cells in primary Sjögren's syndrome.

Rheumatology (Oxford) 2019 Mar 3. Epub 2019 Mar 3.

Institute of Inflammation and Ageing, University of Birmingham, Birmingham, UK.

Primary SS (pSS) is a chronic autoimmune condition characterized by infiltration of the exocrine glands and systemic B cell hyperactivation. This glandular infiltration is associated with loss of glandular function, with pSS patients primarily presenting with severe dryness of the eyes and mouth. Within the affected glands, the infiltrating lymphocytes are organized in tertiary lymphoid structures. Read More

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http://dx.doi.org/10.1093/rheumatology/kez050DOI Listing
March 2019
2 Reads

Trilineage Dysplasia in an Adolescent With Germline GATA2 Mutation.

J Pediatr Hematol Oncol 2019 Mar 29. Epub 2019 Mar 29.

Department of Pathology and Laboratory Medicine, University of Vermont Medical Center.

The GATA family of DNA binding proteins consists of six different transcription factors (GATA1-6), each with diverse biologic function. The GATA2 protein has been shown to be vital for proliferation and maintenance of hematopoietic stem cells; mutations result in variable phenotypes including myelodysplastic syndrome. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001469DOI Listing
March 2019
4 Reads

CTBP1 depletion on prostate tumors deregulates miRNA/mRNA expression and impairs cancer progression in metabolic syndrome mice.

Cell Death Dis 2019 Apr 1;10(4):299. Epub 2019 Apr 1.

Laboratorio de Oncología Molecular y Nuevos Blancos Terapéuticos, Instituto de Biología y Medicina Experimental (IBYME), CONICET, Argentina.

About 20% of prostate cancer (PCa) patients progress to metastatic disease. Metabolic syndrome (MeS) is a pathophysiological disorder that increases PCa risk and aggressiveness. C-terminal binding protein (CTBP1) is a transcriptional corepressor that is activated by high-fat diet (HFD). Read More

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http://dx.doi.org/10.1038/s41419-019-1535-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6443782PMC
April 2019
1 Read

Feasibility and economic assessment of chromocolonoscopy for detection of proximal serrated neoplasia within a population-based colorectal cancer screening programme (CONSCOP): an open-label, randomised controlled non-inferiority trial.

Lancet Gastroenterol Hepatol 2019 May 16;4(5):364-375. Epub 2019 Mar 16.

Division of Population Medicine, Cardiff University School of Medicine, Cardiff, UK. Electronic address:

Background: Most post-colonoscopy interval colorectal cancers are proximal; serrated polyps are often precursors to these cancers and are considered difficult to detect. We assessed the safety, feasibility, and economic effect of chromocolonoscopy on detection of proximal serrated neoplasia.

Methods: We did an open-label, multicentre, randomised, controlled non-inferiority trial including patients from Bowel Screening Wales centres. Read More

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http://dx.doi.org/10.1016/S2468-1253(19)30035-4DOI Listing
May 2019
1 Read

The Mayo Clinic Experience With Psychogenic Purpura (Gardner-Diamond Syndrome).

Am J Med Sci 2019 Feb 7. Epub 2019 Feb 7.

Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota; Division of Hematopathology and Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota. Electronic address:

Background: The objective of this study was to describe presentation, natural history, management and long-term outcomes of patients with psychogenic purpura (PP), also known as Gardner-Diamond Syndrome.

Methods: In this retrospective study, records of patients with a diagnosis of PP seen at Mayo Clinic, Rochester from 1976 to 2016 were reviewed. Available literature regarding PP was also comparatively reviewed. Read More

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http://dx.doi.org/10.1016/j.amjms.2019.02.002DOI Listing
February 2019
1 Read

Shox and Awe: A Case of Variant Turner Syndrome with an Unusual Phenotype.

J Assoc Genet Technol 2019 ;45(1):18-20

Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington, VT.

Objectives: Turner syndrome was first described to encompass a shared set of physical features displayed by a subset of female patients including short stature and lack of sexual development. Half of cases are due to complete loss of an X chromosome, while the remainder are due to other alterations of the X chromosome that disrupt genes necessary for normal physical and sexual development. The SHOX gene, located at Xp22. Read More

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January 2019
4 Reads

Globular Glial Tauopathy May be Mistaken for Corticobasal Syndrome-Pointers for the Clinician.

Mov Disord Clin Pract 2018 Jul-Aug;5(4):439-441. Epub 2018 Jul 19.

Gardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology University of Cincinnati Cincinnati OH USA.

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http://dx.doi.org/10.1002/mdc3.12634DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336378PMC

Prenatal opioid exposure heightens sympathetic arousal and facial expressions of pain/distress in term neonates at 24-48 hours post birth.

J Matern Fetal Neonatal Med 2019 Apr 9:1-8. Epub 2019 Apr 9.

a Department of Pediatrics, Division of Neonatal-Perinatal Medicine , Penn State Health Children's Hospital , Hershey , PA , USA.

Purpose: The rising issue of opioid use during pregnancy poses an increased risk of fetal exposure to opioids in-utero and the development of neonatal abstinence syndrome (NAS). The cessation of exposure to opioids upon birth causes elevated levels of norepinephrine in the circulation enhancing sympathetic arousal. Skin conductance (SC) detects sympathetic-mediated sweating while the Neonatal Facial Coding System (NFCS) depicts facial expressions of stress and pain. Read More

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http://dx.doi.org/10.1080/14767058.2019.1588876DOI Listing
April 2019
1 Read

Dermatologic Urgencies and Emergencies: What Every Pathologist Should Know.

Arch Pathol Lab Med 2019 Feb 20. Epub 2019 Feb 20.

From the Department of Dermatology, Saint Louis University, St Louis, Missouri (Dr Abate);the Departments of Dermatology (Dr Battle),and Pathology (Drs Gardner and Shalin),University of Arkansas for Medical Sciences, Little Rock; and the Department of Dermatology, University of Mississippi Medical Center, Jackson (Dr Emerson).

Context.—: Fatal dermatologic diseases and ones with high morbidity can occur in the inpatient setting. In such cases, prompt and accurate assessment of a bedside skin biopsy is required. Read More

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http://dx.doi.org/10.5858/arpa.2018-0239-RADOI Listing
February 2019
3 Reads

Axiom Microbiome Array, the next generation microarray for high-throughput pathogen and microbiome analysis.

PLoS One 2019 8;14(2):e0212045. Epub 2019 Feb 8.

Physical & Life Sciences Directorate, Lawrence Livermore National Laboratory, Livermore, California, United States of America.

Microarrays have proven to be useful in rapid detection of many viruses and bacteria. Pathogen detection microarrays have been used to diagnose viral and bacterial infections in clinical samples and to evaluate the safety of biological drug materials. In this study, the Axiom Microbiome Array was evaluated to determine its sensitivity, specificity and utility in microbiome analysis of veterinary clinical samples. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0212045PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368325PMC
February 2019
4 Reads

A case-crossover analysis of the impact of weather on primary cases of Middle East respiratory syndrome.

BMC Infect Dis 2019 Feb 4;19(1):113. Epub 2019 Feb 4.

Ontario Veterinary College, University of Guelph, 50 Stone Road E, Guelph, ON, N1G 2W1, Canada.

Background: Middle East respiratory syndrome coronavirus (MERS-CoV) is endemic in dromedary camels in the Arabian Peninsula, and zoonotic transmission to people is a sporadic event. In the absence of epidemiological data on the reservoir species, patterns of zoonotic transmission have largely been approximated from primary human cases. This study aimed to identify meteorological factors that may increase the risk of primary MERS infections in humans. Read More

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https://bmcinfectdis.biomedcentral.com/articles/10.1186/s128
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http://dx.doi.org/10.1186/s12879-019-3729-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362578PMC
February 2019
4 Reads

Identification of aggressive Gardner syndrome phenotype associated with a de novo variant, c.4666dup.

Cold Spring Harb Mol Case Stud 2019 Apr 1;5(2). Epub 2019 Apr 1.

Departments of Otorhinolaryngology, Head and Neck Surgery, USA.

Gardner syndrome describes a variant phenotype of familial adenomatous polyposis (FAP), primarily characterized by extracolonic lesions including osteomas, dental abnormalities, epidermal cysts, and soft tissue tumors. We describe a 2-yr-old boy presenting with a 2-cm soft tissue mass of the forehead. Pathologic evaluation revealed a nuchal-type/Gardner-associated fibroma. Read More

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http://dx.doi.org/10.1101/mcs.a003640DOI Listing
April 2019
4 Reads

Prenatal Alcohol Exposure Causes Adverse Cardiac Extracellular Matrix Changes and Dysfunction in Neonatal Mice.

Cardiovasc Toxicol 2019 Jan 25. Epub 2019 Jan 25.

Department of Physiology, LSU Health Sciences Center, 1901 Perdido Street, New Orleans, LA, 70112, USA.

Fetal alcohol syndrome (FAS) is the most severe condition of fetal alcohol spectrum disorders (FASD) and is associated with congenital heart defects. However, more subtle defects such as ventricular wall thinning and cardiac compliance may be overlooked in FASD. Our studies focus on the role of cardiac fibroblasts in the neonatal heart, and how they are affected by prenatal alcohol exposure (PAE). Read More

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http://dx.doi.org/10.1007/s12012-018-09503-8DOI Listing
January 2019
2 Reads

Management and outcomes of isolated interhemispheric subdural hematomas associated with falx syndrome.

J Neurosurg 2019 Jan 11:1-6. Epub 2019 Jan 11.

OBJECTIVELarge interhemispheric subdural hematomas (iSDHs) causing falx syndrome are rare; therefore, a paucity of data exists regarding the outcomes of contemporary management of iSDH. There is a general consensus among neurosurgeons that large iSDHs with neurological deficits represent a particular treatment challenge with generally poor outcomes. Thus, radiological and clinical outcomes of surgical and nonsurgical management for iSDH bear further study, which is the aim of this report. Read More

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http://dx.doi.org/10.3171/2018.8.JNS181812DOI Listing
January 2019
1 Read

Effect of subthalamic deep brain stimulation on posture in Parkinson's disease: A blind computerized analysis.

Parkinsonism Relat Disord 2019 Jan 8. Epub 2019 Jan 8.

Gardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, OH, USA.

Introduction: We sought to assess the effect of subthalamic deep brain stimulation (STN DBS) on Parkinson's disease (PD)-associated postural abnormalities.

Methods: A computerized analysis of posture was used to quantify the thoracolumbar, thoracic, and cervical-occipital ventral angles, as well as the thoracolumbar and cervical-occipital lateral angles from the video-repository of three specialized movement disorder centers (n = 158 patients). Data was extracted from frames from video-recordings in the pre-surgical medication-ON (dopaminergic therapy) and post-surgical stimulation-ON/medication-ON states (STN DBS plus dopaminergic therapy). Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.01.003DOI Listing
January 2019
6 Reads

Plerixafor for the Treatment of WHIM Syndrome.

N Engl J Med 2019 01;380(2):163-170

From the Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases (D.H.M., D.V., E.C., Q.L., P.M.M.), the Laboratories of Cellular Oncology (D.V.P., C.B.B.) and Pathology (S.P.), National Cancer Institute, the Department of Laboratory Medicine, Clinical Center (K.R.C.), the National Institute of Dental and Craniofacial Research (P.J.G.), and the National Institute on Deafness and Other Communication Disorders (D.A.B.), National Institutes of Health, and Kozloff and Trout MDs (H.H.T.), Bethesda, MD; the Infectious Diseases Unit and Primary Immunodeficiencies Unit, Hospital Dona Estefânia, Pediatric University Hospital (J.F.N.), and Centro de Imunodeficiências Primárias, Academic Medical Center of Lisbon (S.L.S.), Lisbon, Portugal; and the University of Chicago Medical Center, Chicago (E.A.B., E.M.L.).

WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis), a primary immunodeficiency disorder involving panleukopenia, is caused by autosomal dominant gain-of-function mutations in CXC chemokine receptor 4 (CXCR4). Myelokathexis is neutropenia caused by neutrophil retention in bone marrow. Patients with WHIM syndrome are often treated with granulocyte colony-stimulating factor (G-CSF), which can increase neutrophil counts but does not affect cytopenias other than neutropenia. Read More

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http://dx.doi.org/10.1056/NEJMoa1808575DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6425947PMC
January 2019
6 Reads

Efficacy of a Therapeutic Diet on Dogs With Signs of Cognitive Dysfunction Syndrome (CDS): A Prospective Double Blinded Placebo Controlled Clinical Study.

Front Nutr 2018 12;5:127. Epub 2018 Dec 12.

CanCog Technologies, Toronto, ON, Canada.

Cognitive dysfunction syndrome (CDS) is a common condition in senior dogs, which may be analogous to dementia such as Alzheimer's disease (AD) in people. In humans, AD has been associated with many risk factors such as reduced cerebral glucose metabolism, docosahexaenoic acid (DHA) deficiency, chronic oxidative stress, and chronic inflammation. By targeting some of these risk factors, we have developed two nutritional solutions (medium chain triglyceride, MCT and Brain Protection Blend, BPB) to enhance cognitive function and slow aging-induced cognitive decline. Read More

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https://www.frontiersin.org/article/10.3389/fnut.2018.00127/
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http://dx.doi.org/10.3389/fnut.2018.00127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6299068PMC
December 2018
18 Reads

ASTCT Consensus Grading for Cytokine Release Syndrome and Neurologic Toxicity Associated with Immune Effector Cells.

Biol Blood Marrow Transplant 2019 Apr 25;25(4):625-638. Epub 2018 Dec 25.

Department of Lymphoma and Myeloma, The University of Texas MD Anderson Cancer Center, Houston, TX. Electronic address:

Chimeric antigen receptor (CAR) T cell therapy is rapidly emerging as one of the most promising therapies for hematologic malignancies. Two CAR T products were recently approved in the United States and Europe for the treatment ofpatients up to age 25years with relapsed or refractory B cell acute lymphoblastic leukemia and/or adults with large B cell lymphoma. Many more CAR T products, as well as other immunotherapies, including various immune cell- and bi-specific antibody-based approaches that function by activation of immune effector cells, are in clinical development for both hematologic and solid tumor malignancies. Read More

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http://dx.doi.org/10.1016/j.bbmt.2018.12.758DOI Listing
April 2019
20 Reads

DDX58 and Classic Singleton-Merten Syndrome.

J Clin Immunol 2019 Jan 20;39(1):75-80. Epub 2018 Dec 20.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, UK.

Purpose: Singleton-Merten syndrome manifests as dental dysplasia, glaucoma, psoriasis, aortic calcification, and skeletal abnormalities including tendon rupture and arthropathy. Pathogenic variants in IFIH1 have previously been associated with the classic Singleton-Merten syndrome, while variants in DDX58 has been described in association with a milder phenotype, which is suggested to have a better prognosis. We studied a family with severe, "classic" Singleton-Merten syndrome. Read More

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http://dx.doi.org/10.1007/s10875-018-0572-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394545PMC
January 2019
4 Reads

Maxillofacial Radiographic study of Gardner's syndrome presenting with odontogenic myxoma: A rare case report.

Stomatologija 2018 ;20(2):59-64

Department of restorative and periodontology, University of Greifswald, Friedrich Ebert Str. 69, 34119 Kassel, Germany.

Gardner syndrome is an autosomal dominant disease. It is characterized by a combination of familial adenomatous polyposis (FAP) of the intestine with extraintestinal changes as multiple osteomas and fibromas. Odontogenic Myxoma is a benign, aggressive intraosseous neoplasm. Read More

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February 2019
2 Reads

Tissue Specificity in Trisomy 22 Mosaicism: A Tale of Caution for Interpretation of Chromosomal Microarray Results.

J Assoc Genet Technol 2018 ;44(4):137-140

Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington, VT.

Objectives: While the complete form of trisomy 22 is seemingly incompatible with life, the mosaic form is a rare syndrome associated with developmental delays, intellectual disability, and dysmorphic features. Due in part to the difficulty of analyzing chromosomal mosaicism, many instances either go undiagnosed or have their diagnosis delayed. We report a case of mosaic trisomy 22 in a diamnionic-dichorionic twin with marked growth discordance and intra-uterine growth restriction, diagnosed in a 2-year-old with developmental delays, sensorineural hearing loss, cardiac and gastrointestinal abnormalities, and osteopenia of prematurity. Read More

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January 2018
10 Reads

Unexplained cytopenias in an adolescent? You GATA think about it.

J Assoc Genet Technol 2018 ;44(4):135-136

Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington, VT.

Objectives: The GATA family of DNA binding proteins consists of six different transcription factors (GATA1-6), each with a diverse biologic function. The transcription factors GATA1-3 function primarily to orchestrate hematopoiesis; however, they have roles in non-hematopoietic cells as well. Much of our current knowledge of the GATA transcription factors has come through observation of disease states with known GATA mutations. Read More

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January 2018
3 Reads

Phosphatidylinositol 3-kinase delta pathway: a novel therapeutic target for Sjögren's syndrome.

Ann Rheum Dis 2019 Feb 24;78(2):249-260. Epub 2018 Nov 24.

Centre for Translational Inflammation Research, Institute of Inflammation and Ageing, College of Medical & Dental Sciences, University of Birmingham, Research Laboratories, Queen Elizabeth Hospital, Birmingham, UK

Background: The phosphatidylinositol 3-kinase delta isoform (PI3Kδ) belongs to an intracellular lipid kinase family that regulate lymphocyte metabolism, survival, proliferation, apoptosis and migration and has been successfully targeted in B-cell malignancies. Primary Sjögren's syndrome (pSS) is a chronic immune-mediated inflammatory disease characterised by exocrine gland lymphocytic infiltration and B-cell hyperactivation which results in systemic manifestations, autoantibody production and loss of glandular function. Given the central role of B cells in pSS pathogenesis, we investigated PI3Kδ pathway activation in pSS and the functional consequences of blocking PI3Kδ in a murine model of focal sialoadenitis that mimics some features of pSS. Read More

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http://dx.doi.org/10.1136/annrheumdis-2017-212619DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352416PMC
February 2019
7 Reads

Early Repolarization Pattern Inheritance in the Cardiac Arrest Survivors With Preserved Ejection Fraction Registry (CASPER).

JACC Clin Electrophysiol 2018 Nov 29;4(11):1473-1479. Epub 2018 Aug 29.

University of British Columbia, Vancouver, British Columbia, Canada. Electronic address:

Objectives: This study explored early repolarization (ER) pattern inheritance between survivors of unexplained cardiac arrest (UCA) and their first-degree relatives.

Background: ER is considered a factor that confers an increased risk of sudden death. A monogenic explanation for ER is seldom evident after cascade screening. Read More

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http://dx.doi.org/10.1016/j.jacep.2018.07.001DOI Listing
November 2018
8 Reads

Neurological syndrome in goats associated with Ipomoea trifida and Ipomoea carnea containing calystegines.

Toxicon 2019 Jan 14;157:8-11. Epub 2018 Nov 14.

Facultad de Veterinaria, Universidad de León, Campus de Vegazana, León, Spain.

A disease characterized by ataxia, tremors and nystagmus had been observed in goats in Nicaragua. The main histologic lesions were loss and neuronal vacuolation of Purkinje cells and Wallerian-like degeneration mainly in the cerebellum, suggesting a glycoprotein storage disease. Ipomoea carnea and Ipomoea trifida found in the paddocks were negative for swainsonine, but contained calystegines at 0. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00410101183101
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http://dx.doi.org/10.1016/j.toxicon.2018.11.291DOI Listing
January 2019
14 Reads

Botulinum toxin for Pisa syndrome: An MRI-, ultrasound- and electromyography-guided pilot study.

Parkinsonism Relat Disord 2018 Nov 5. Epub 2018 Nov 5.

Department of Neuroscience "Rita Levi Montalcini", University of Turin, Torino, Italy. Electronic address:

Introduction: Pisa syndrome is a disabling, medication-resistant, postural abnormality that may affect 7-10% of patients with Parkinson's disease. In this study, we sought to assess the efficacy of botulinum toxin injections in Parkinson's disease-associated Pisa syndrome using a Magnetic Resonance Imaging-, Ultrasonography-, and Electromyography-guided combined approach.

Methods: We conducted a pilot study to evaluate the efficacy of botulinum toxin type-A injection in paraspinal and non-paraspinal axial muscles after a Magnetic Resonance Imaging and ultrasound-guided electromyography evaluation. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S13538020183048
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http://dx.doi.org/10.1016/j.parkreldis.2018.11.003DOI Listing
November 2018
24 Reads

A rapid scoping review of Middle East respiratory syndrome coronavirus in animal hosts.

Zoonoses Public Health 2019 02 12;66(1):35-46. Epub 2018 Nov 12.

University of Guelph, Guelph, Ontario, Canada.

Middle East respiratory syndrome coronavirus (MERS-CoV) is an emerging zoonotic pathogen discovered in 2012. The purpose of this scoping review was to summarize the empirical evidence for MERS-CoV in animals in order to map knowledge gaps and to extract data for modelling disease transmission in dromedary camels. A review protocol was developed a priori, and a systematic search, data extraction and summary were conducted using the Arksey and O'Malley framework. Read More

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http://doi.wiley.com/10.1111/zph.12537
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http://dx.doi.org/10.1111/zph.12537DOI Listing
February 2019
12 Reads

Gardner syndrome with maxillofacial manifestation: A case report.

Spec Care Dentist 2019 Jan 12;39(1):65-71. Epub 2018 Nov 12.

Postgraduate Program, Dental College, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, RS, Brazil.

Gardner syndrome is a hereditary disease in which patients develop gastrointestinal polyps, osteomas, desmoid tumors, epidermoid cysts, fibromas, lipomas, and retinal lesions. Dental abnormalities such as supernumerary or impacted teeth, odontomas and dentigerous cysts are also reported. The most serious concern in this syndrome is the extremely high risk of gastrointestinal polyps undergoing malignant transformation. Read More

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http://doi.wiley.com/10.1111/scd.12339
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http://dx.doi.org/10.1111/scd.12339DOI Listing
January 2019
11 Reads

Alirocumab and Cardiovascular Outcomes after Acute Coronary Syndrome.

N Engl J Med 2018 11 7;379(22):2097-2107. Epub 2018 Nov 7.

From the Division of Cardiology, University of Colorado School of Medicine, Aurora (G.G.S.); Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris Diderot University, Sorbonne Paris Cité, FACT (French Alliance for Cardiovascular Trials), and INSERM Unité 1148 (P.G.S.), and Sanofi (C.H., G.L.) - all in Paris; the National Heart and Lung Institute, Imperial College, Royal Brompton Hospital, London (P.G.S.); the State University of New York Downstate School of Public Health, Brooklyn (M.S.), and Regeneron Pharmaceuticals, Tarrytown (R.P., W.J.S.) - both in New York; Brigham and Women's Hospital Heart and Vascular Center and Harvard Medical School, Boston (D.L.B.); the Division of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham (V.A.B.); Estudios Cardiológicos Latinoamérica, Instituto Cardiovascular de Rosario, Rosario, Argentina (R.D.); Sanofi, Bridgewater, NJ (J.M.E., A.M., J.-F.T.); the Canadian VIGOUR Centre, University of Alberta, Edmonton, and St. Michael's Hospital, University of Toronto, Toronto - both in Canada (S.G.G.); Stanford Center for Clinical Research, Department of Medicine, Stanford University, Stanford, CA (R.A.H., K.W.M.); the Department of Cardiology, Leiden University Medical Center, Leiden, the Netherlands (J.W.J.); Duke Clinical Research Institute, Duke University Medical Center (K.Q., M.T.R., P.T.), and the Division of Cardiology, Department of Medicine, Duke University School of Medicine (M.T.R.), Durham, NC; Green Lane Cardiovascular Services, Auckland City Hospital, Auckland, New Zealand (H.D.W.); and the Department of Medicine III, Goethe University, Frankfurt am Main, Germany (A.M.Z.).

Background: Patients who have had an acute coronary syndrome are at high risk for recurrent ischemic cardiovascular events. We sought to determine whether alirocumab, a human monoclonal antibody to proprotein convertase subtilisin-kexin type 9 (PCSK9), would improve cardiovascular outcomes after an acute coronary syndrome in patients receiving high-intensity statin therapy.

Methods: We conducted a multicenter, randomized, double-blind, placebo-controlled trial involving 18,924 patients who had an acute coronary syndrome 1 to 12 months earlier, had a low-density lipoprotein (LDL) cholesterol level of at least 70 mg per deciliter (1. Read More

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http://www.nejm.org/doi/10.1056/NEJMoa1801174
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http://dx.doi.org/10.1056/NEJMoa1801174DOI Listing
November 2018
46 Reads

Bone and dental abnormalities as first signs of familial Gardner's syndrome in a Chinese family: a literature review and a case report.

Med Sci (Paris) 2018 Oct 7;34 Focus issue F1:20-25. Epub 2018 Nov 7.

M.S., D.D.S., Attending doctor, Department of Oral and Maxillofacial Surgery, First Affiliated Hospital, College of Medicine, Zhejiang University. 79# Qingchun Road, Hangzhou 310003, People's Republic of China.

Gardner's syndrome (GS) is an autosomal dominant disease characterized by the presence of familial adenomatous polyposis (FAP) as well as extraintestinal manifestations such as osteomas, dental anomalies, epidermoid cysts and ocular abnormalities. These intestinal polyps carry a 100% risk of malignant change, so early diagnosis is crucial. As craniofacial osteomas and dental anomalies of GS usually precede gastrointestinal symptoms, otolaryngologists, oral surgeons and dentists play an important role in the diagnosis of GS. Read More

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http://dx.doi.org/10.1051/medsci/201834f104DOI Listing
October 2018
1 Read

Pediatric glossopharyngeal neuralgia: a comprehensive review.

Childs Nerv Syst 2019 Mar 25;35(3):395-402. Epub 2018 Oct 25.

Department of Anatomical Sciences, St. George's University, St. George, Grenada.

Introduction: Debilitating facial pain can seriously affect an individual's daily living. Given that the pathophysiology behind neuropathic and myofascial pain is not fully understood, when chronic facial pain goes undiagnosed, it has been proposed that one of the two is the likely cause. Since their discovery, glossopharyngeal neuralgia (GN) and Eagle's syndrome have been considered mostly conditions afflicting the adult population. Read More

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http://link.springer.com/10.1007/s00381-018-3995-3
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http://dx.doi.org/10.1007/s00381-018-3995-3DOI Listing
March 2019
16 Reads

Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy.

Mol Genet Genomic Med 2019 01 21;7(1):e00476. Epub 2018 Oct 21.

Cardiac Inherited Disease Group, Auckland, New Zealand.

Background: Isolated cardiac arrhythmia due to a variant in CACNA1C is of recent knowledge. Most reports have been of singleton cases or of quite small families, and estimates of penetrance and expressivity have been difficult to obtain. We here describe a large pedigree, from which such estimates have been calculated. Read More

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http://doi.wiley.com/10.1002/mgg3.476
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http://dx.doi.org/10.1002/mgg3.476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382452PMC
January 2019
28 Reads

Inexplicable Purpura in a Female: Gardner-Diamond Syndrome.

J Cutan Med Surg 2018 Nov/Dec;22(6):607

1 Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

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http://journals.sagepub.com/doi/10.1177/1203475418777733
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http://dx.doi.org/10.1177/1203475418777733DOI Listing
October 2018
2 Reads
0.714 Impact Factor

Gardener-associated fibroma: an unusual cause of upper airway obstruction.

BMJ Case Rep 2018 Sep 28;2018. Epub 2018 Sep 28.

Department of Otorhinolaryngology, Royal Manchester Children's Hospital, Manchester, UK.

We present the first case of upper airway obstruction secondary to a retropharyngeal Gardner-associated fibroma (GAF). A 16-month-old infant presented with a 3-month history of worsening dyspnoea and apnoeic episodes. Examination revealed stridor and left-sided retropharyngeal asymmetry. Read More

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http://dx.doi.org/10.1136/bcr-2018-225079DOI Listing
September 2018
2 Reads

Gardner-Diamond syndrome: a systematic review of treatment options for a rare psychodermatological disorder.

Int J Dermatol 2018 Sep 20. Epub 2018 Sep 20.

Division of Hematology/Oncology, Creighton University School of Medicine, Omaha, NE, USA.

Gardner-Diamond syndrome (GDS) is a rare psychodermatological condition characterized by the formation of spontaneous, painful skin lesions that develop into ecchymosis following episodes of severe physiological or psychological stress. The majority of GDS cases occur in young adult females, and although the etiology of this rare disorder is unknown, there appears to be a psychological component correlated with the coexistence of previous psychiatric diagnoses. Due to the rare nature of this disorder, there exist few guidelines for prompt clinical diagnosis and optimal treatment. Read More

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http://doi.wiley.com/10.1111/ijd.14235
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http://dx.doi.org/10.1111/ijd.14235DOI Listing
September 2018
7 Reads

MERS: Progress on the global response, remaining challenges and the way forward.

Authors:

Antiviral Res 2018 Nov 17;159:35-44. Epub 2018 Sep 17.

This article summarizes progress in research on Middle East Respiratory Syndrome (MERS) since a FAO-OIE-WHO Global Technical Meeting held at WHO Headquarters in Geneva on 25-27 September 2017. The meeting reviewed the latest scientific findings and identified and prioritized the global activities necessary to prevent, manage and control the disease. Critical needs for research and technical guidance identified during the meeting have been used to update the WHO R&D MERS-CoV Roadmap for diagnostics, therapeutics and vaccines and a broader public health research agenda. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01663542183053
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http://dx.doi.org/10.1016/j.antiviral.2018.09.002DOI Listing
November 2018
4 Reads

Mesenteric fibromatosis in a patient with a history of neuroblastoma: a case report.

J Surg Case Rep 2018 Sep 1;2018(9):rjy209. Epub 2018 Sep 1.

Department of Surgery, University of California, Irvine, CA, USA.

Mesenteric fibromatosis (MF) is a locally aggressive proliferative spindle cell lesion of the mesentery. A 34-year-old male presented with increasing abdominal pain and constipation. On workup, patient was found to have a large pelvic mass on CT A/P concerning for cancer. Read More

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http://dx.doi.org/10.1093/jscr/rjy209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6119216PMC
September 2018
1 Read

[Gardner syndrome with chronic osteomyelitis of the jaw: a case report].

Hua Xi Kou Qiang Yi Xue Za Zhi 2018 Aug;36(4):457-460

Dept. of Oral and Maxillofacial Surgery, Xiangya Stomatological Hospital, Central South University, Changsha 410008, China.

Gardner syndrome is a rare autosomal dominant disease. Its symptoms include multiple intestinal polyps, soft tissue tumors, dental disorders, osteoma, and congenital hypertrophy of the retinal pigment epithelium. Here, we present a patient with Gardner syndrome and chronic osteomyelitis of the jaw to highlight the serious damage that can be caused by Gardner syndrome. Read More

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http://dx.doi.org/10.7518/hxkq.2018.04.019DOI Listing
August 2018
2 Reads

Perioperative Management of Mild Hemophilia B During and After Coronary Artery Bypass Grafting: Challenges and Solutions.

J Cardiothorac Vasc Anesth 2019 02 20;33(2):549-555. Epub 2018 Jun 20.

Cardiothoracic Anesthesiology, Department of Anesthesiology, Perioperative Medicine and Pain Management, Miller School of Medicine, University of Miami, Miami, FL.

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http://dx.doi.org/10.1053/j.jvca.2018.06.005DOI Listing
February 2019
22 Reads
1.482 Impact Factor

CTBP1/CYP19A1/estradiol axis together with adipose tissue impacts over prostate cancer growth associated to metabolic syndrome.

Int J Cancer 2019 Mar 9;144(5):1115-1127. Epub 2018 Oct 9.

Laboratorio de Oncología Molecular y Nuevos Blancos Terapéuticos, Instituto de Biología y Medicina Experimental (IBYME), CONICET, Buenos Aires, Argentina.

Metabolic syndrome (MeS) increases prostate cancer (PCa) risk and aggressiveness. C-terminal binding protein 1 (CTBP1) is a transcriptional co-repressor of tumor suppressor genes that is activated by low NAD /NADH ratio. Previously, our group established a MeS and PCa mice model that identified CTBP1 as a novel link associating both diseases. Read More

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http://doi.wiley.com/10.1002/ijc.31773
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http://dx.doi.org/10.1002/ijc.31773DOI Listing
March 2019
42 Reads

Cellular and Vascular Components of Tertiary Lymphoid Structures.

Methods Mol Biol 2018 ;1845:17-30

Rheumatology Research Group, Institute of Inflammation and Ageing (IIA), University of Birmingham, Queen Elizabeth Hospital, Birmingham, UK.

Inflammatory immune cells recruited at the site of chronic inflammation form structures that resemble secondary lymphoid organs (SLO). These are characterized by segregated areas of prevalent T- or B-cell aggregation, differentiation of high endothelial venules, and local activation of resident stromal cells, including lymphatic endothelial cells. B-cell proliferation and affinity maturation toward locally displayed autoantigens have been demonstrated at these sites, known as tertiary lymphoid structures (TLS). Read More

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http://link.springer.com/10.1007/978-1-4939-8709-2_2
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http://dx.doi.org/10.1007/978-1-4939-8709-2_2DOI Listing
January 2018
11 Reads

Chronic Critical Illness and the Persistent Inflammation, Immunosuppression, and Catabolism Syndrome.

Front Immunol 2018 2;9:1511. Epub 2018 Jul 2.

Sepsis and Critical Illness Research Center, Department of Surgery, University of Florida College of Medicine, Gainesville, FL, United States.

Dysregulated host immune responses to infection often occur, leading to sepsis, multiple organ failure, and death. Some patients rapidly recover from sepsis, but many develop chronic critical illness (CCI), a debilitating condition that impacts functional outcomes and long-term survival. The "" (PICS) has been postulated as the underlying pathophysiology of CCI. Read More

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https://www.frontiersin.org/article/10.3389/fimmu.2018.01511
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http://dx.doi.org/10.3389/fimmu.2018.01511DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6036179PMC
July 2018
14 Reads

Tremorgenic Indole Diterpenes from Ipomoea asarifolia and Ipomoea muelleri and the Identification of 6,7-Dehydro-11-hydroxy-12,13-epoxyterpendole A.

J Nat Prod 2018 Jul 16;81(7):1682-1686. Epub 2018 Jul 16.

National Institute of Agricultural Research (INIA) , La Estanzuela, Colonia , CR 70.000 , Uruguay.

Indole diterpene alkaloids have been isolated from Ipomoea asarifolia and I. muelleri and are associated with a tremorgenic syndrome in livestock. To better characterize the tremorgenic activity of the major indole diterpene alkaloids in these two plants, terpendole K (1), 6,7-dehydroterpendole A (2), 11-hydroxy-12,13-epoxyterpendole K (3), terpendole C (5), paxilline (6), and a new compound, 6,7-dehydro-11-hydroxy-12,13-epoxyterpendole A (4), were isolated and evaluated for tremorgenic activity in a mouse model. Read More

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http://dx.doi.org/10.1021/acs.jnatprod.8b00257DOI Listing
July 2018
7 Reads