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Gardner's syndrome

B Q Farah, R M Ritti-Dias, G G Cucato, P S Montgomery, A W Gardner
OBJECTIVES: Time spent in sedentary behavior has been associated with cardio-metabolic risk factors in the general population and in patients with symptomatic peripheral artery disease (PAD). Given the association of sedentary behavior and poor health outcomes, it is important to identify factors associated with sedentary behavior in these patients. The aim of this study was to identify factors associated with the sedentary time in patients with symptomatic PAD. METHODS: The sample included 297 patients with symptomatic PAD...
October 18, 2016: European Journal of Vascular and Endovascular Surgery
Yong-Sik Bong, Shahin Assefnia, Therese Tuohy, Deborah W Neklason, Randall W Burt, Jaeil Ahn, Hao-Wen J Jiang, Stephen W Byers
Vitamin D is implicated in the etiology of cancers of the gastrointestinal tract, usually characterized by alteration in the APC/β-catenin/TCF tumor suppressor pathway. The vitamin D receptor (VDR) is also implicated in cardiovascular and skin diseases as well as in immunity. Activated VDR can indirectly alter β-catenin nuclear localization and directly suppress β-catenin/TCF mediated transcriptional activity. We treated VDR null mice with the carcinogen azoxymethane (AOM) and generated mice bearing a mutated APC (hypomorph) on a VDR null background (Apc1638N/+Vdr-/-)...
October 19, 2016: Oncotarget
Sandra E Reznik, Eliot L Gardner, Charles R Ashby
September 26, 2016: International Journal of Infectious Diseases: IJID
Christian Steinberg, Gareth J Padfield, Jean Champagne, Shubhayan Sanatani, Paul Angaran, Jason G Andrade, Jason D Roberts, Jeffrey S Healey, Vijay S Chauhan, David H Birnie, Mikyla Janzen, Brenda Gerull, George J Klein, Richard Leather, Christopher S Simpson, Colette Seifer, Mario Talajic, Martin Gardner, Andrew D Krahn
BACKGROUND: Unexplained cardiac arrest (UCA) may be explained by inherited arrhythmia syndromes. The Cardiac Arrest Survivors With Preserved Ejection Fraction Registry prospectively assessed first-degree relatives of UCA or sudden unexplained death victims to screen for cardiac abnormalities. METHODS AND RESULTS: Around 398 first-degree family members (186 UCA, 212 sudden unexplained death victims' relatives; mean age, 44±17 years) underwent extensive cardiac workup, including ECG, signal averaged ECG, exercise testing, cardiac imaging, Holter-monitoring, and selective provocative drug testing with epinephrine or procainamide...
September 2016: Circulation. Arrhythmia and Electrophysiology
Lauren M Gardner, Abrar A Chughtai, C Raina MacIntyre
BACKGROUND: Middle East respiratory syndrome coronavirus (MERS-CoV) emerged from the Kingdom of Saudi Arabia (KSA) in 2012 and has since spread to 26 countries. All cases reported so far have either been in the Middle East or linked to the region through passenger air travel, with the largest outbreak outside KSA occurring in South Korea. Further international spread is likely due to the high travel volumes of global travel, as well as the occurrence of large annual mass gathering such as the Haj and Umrah pilgrimages that take place in the region...
June 2016: Journal of Travel Medicine
Jennifer Hammer, Daniel Léonard, François Chateau, Nora Abbes Orabi, Olga Ciccarelli, Radu Bachmann, Christophe Remue, Benoît Lengelé, Alex Kartheuser
INTRODUCTION: Desmoid tumors are rare proliferative and invasive benign lesions. They can be sporadic, but in most instances, desmoid tumors develop in the context of Gardner's syndrome with principal localization in the abdominal cavity and abdominal wall. CASE-REPORT: We report the case of a 24-year-old female presenting Gardner's syndrome with a symptomatic abdominal wall desmoid tumor. Lack of response to medical treatment led to surgical management consisting in a complete resection and parietal reconstruction with a biologic mesh...
August 18, 2016: Acta Chirurgica Belgica
Prokopios P Argyris, Ioannis G Koutlas
Gardner syndrome (GS) is caused by mutations in the APC and besides adenomatous colorectal polyps includes such manifestations as osteomas, epidermoid cysts (ECs) and occasionally multiple pilomatricomas. More than 50 % of ECs in patients with GS exhibit pilomatricoma-like ghost cell keratinization. The latter may be explained by the fact that the development of both GS and pilomatricoma is driven by activation of the Wnt/β-catenin signaling pathway. A 62-year-old, Caucasian male with history of GS presented with a unilocular, mixed radiopaque/radiolucent mandibular lesion causing divergence and external root resorption of involved teeth...
August 8, 2016: Head and Neck Pathology
Irene Sonu, George Triadafilopoulos, Jerry D Gardner
BACKGROUND: Clinical trials of several new treatments for opioid-induced constipation (OIC), chronic idiopathic constipation (CIC) and constipation-predominant irritable bowel syndrome (IBS-C) have focused on differences between subjects relieved of constipation with placebo and active treatment. Patients and clinicians however, are more interested in the probability these treatments provide actual relief of constipation and its associated symptoms. METHODS: We searched the medical literature using MEDLINE and Cochrane central register of controlled trials...
2016: BMJ Open Gastroenterology
Kiran M Sargar, Elizabeth F Sheybani, Archana Shenoy, John Aranake-Chrisinger, Geetika Khanna
Pediatric fibroblastic and myofibroblastic tumors are a relatively common group of soft-tissue proliferations that are associated with a wide spectrum of clinical behavior. These tumors have been divided into the following categories on the basis of their biologic behavior: benign (eg, myositis ossificans, myofibroma, fibromatosis colli), intermediate-locally aggressive (eg, lipofibromatosis, desmoid fibroma), intermediate-rarely metastasizing (eg, inflammatory myofibroblastic tumors, infantile fibrosarcoma, low-grade myofibroblastic sarcoma), and malignant (eg, fibromyxoid sarcoma, adult fibrosarcoma)...
July 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Marina Reis Oliveira, Willian Caetano Rodrigues, Mario Francisco Real Gabrielli, Marisa Aparecida Cabrini Gabrielli, Mirian Aparecida Onofre, Valfrido Antonio Pereira Filho
Gardner syndrome is a rare autosomal-dominant condition characterized by the presence of intestinal polyposis, multiple osteomas, and tumors of the hard and soft tissues. This paper describes a patient of Gardner syndrome with unusual maxillofacial manifestation with presence of fibromyxomatous injury in jaw, coronoid hyperplasia, and multiple osteomas diffusely distributed in the craniomaxillofacial skeleton. Imaging examinations have identified craniofacial manifestations and the patient was referred to the gastroenterologist who confirmed the diagnosis of Gardner syndrome...
July 2016: Journal of Craniofacial Surgery
Wei Li, Yuhong Zhou, Qian Li, Hanxing Tong, Weiqi Lu
BACKGROUND: A minority of intra-abdominal desmoid tumors is associated with Gardner's syndrome in which desmoid tumors become an important cause of morbidity and mortality if they are surgically unresectable. CASE PRESENTATION: Here, we report two cases of intestinal perforation during chemotherapy in patients with Gardner's syndrome-associated intra-abdominal desmoids. One female and one male patients who developed inoperable desmoids were given the chemotherapeutic regimen of doxorubicin plus dacarbazine, followed by meloxicam...
2016: World Journal of Surgical Oncology
Olivia K Gardner, Karla Haynes, Daniela Schweitzer, Alexis Johns, William P Magee, Mark M Urata, Pedro A Sanchez-Lara
We report four individuals from two unrelated consanguineous families with 3MC syndrome. In the first family, chromosome microarray data revealed that the two affected sisters, born to first-cousin parents, shared a unique homozygous C-terminal deletion in the COLEC11 gene. Two affected brothers from a second family, also born to first-cousin parents, shared a region of homozygosity that included the second gene known to cause the 3MC syndrome, MASP1. We discuss the diagnostic approach of craniofacial disorders born to consanguineous parents and highlight a literature search and reference a helpful dysmorphology solution powered by FDNA (Facial Dysmorphology Novel Analysis) technology...
June 29, 2016: Cleft Palate-craniofacial Journal
Priyanka Verma, Varun Surya, Sonali Kadam, Hemant R Umarji
Gardner's syndrome is an autosomal dominant disease characterized by the presence of colonic polyposis, osteomas, and a multitude of soft-tissue tumors. Dental anomalies are present in estimated 30% of all affected individuals of Gardner's syndrome, so dental professionals play an important role in determining the early signs of the syndrome. The intestinal polyps have a 100% risk of undergoing malignant transformation if not treated thus, early diagnosis and regular surveillance are important. In this report, we describe classical presentation of Gardner's syndrome in a patient who presented with bilateral swellings on palate along with multiple impacted teeth...
April 2016: Contemporary Clinical Dentistry
Peter Birkeland, Kate Gardner, Rachel Kesse-Adu, John Davies, Jens Lauritsen, Frantz Rom Poulsen, Christos M Tolias, Swee Lay Thein
BACKGROUND AND PURPOSE: Intracranial aneurysms and aneurysmal subarachnoid hemorrhage may occur more frequently in sickle-cell disease (SCD), and this could be related to the sickle genotype and moyamoya syndrome seen in SCD. METHODS: Records from a total of 1002 patients with SCD attending 2 specialized adult hematologic services were retrospectively reviewed. We analyzed data of a cohort of 767 patients attending 1 SCD clinic between 2002 and 2013 and of 235 patients from the other clinic who have had neurovascular imaging between 2007 and 2014...
July 2016: Stroke; a Journal of Cerebral Circulation
N Guignard, C Cartier, L Crampette, M Akkari
INTRODUCTION: Gardner's syndrome is the association of familial adenomatous polyposis (FAP) with an anaphase promoting complex (APC) gene mutation and several extradigestive manifestations: osteomas, epidermal cysts and desmoid tumours. Only 2 cases of FAP associated with parotid tumour have been reported in the literature: one carcinoma and one pleomorphic adenoma. CASE REPORT: We report the case of a 23-year-old man with Gardner's syndrome presenting with a fibromatous tumour of the left parotid gland...
June 9, 2016: European Annals of Otorhinolaryngology, Head and Neck Diseases
Gregory Nicolas, Tony Kfoury, Rasha Shimlati, Maroon Tohme, Raja Wakim
BACKGROUND: Mesenteric fibromatosis, also known as mesenteric desmoids, is part of the clinical-pathologic spectrum of deep fibromatosis, which encompasses a group of benign fibro-proliferative processes that are locally aggressive and have the capacity to infiltrate or recur without metastasis. CASE REPORT: Case of a 45-year-old man, with a history of hypertension and lung fibrosis, presenting for a left abdominal mass, which was found incidentally during his lung fibrosis imaging...
2016: American Journal of Case Reports
Kellie J Nazemi, Violet Shen, Jonathan L Finlay, James Boyett, Mehmet Kocak, Deborah Lafond, Sharon L Gardner, Roger J Packer, H Stacy Nicholson
BACKGROUND: The outcomes with high-risk central nervous system (CNS) embryonal tumors remain relatively poor despite aggressive treatment. The purposes of this study using postirradiation myeloablative chemotherapy with autologous hematopoietic stem cell rescue (ASCR) were to document feasibility and describe toxicities of the regimen, establish the appropriate dose of thiotepa, and estimate the overall survival (OS) and event-free survival (EFS). PROCEDURE: The Children's Cancer Group conducted this pilot study in children and adolescents with CNS embryonal tumors...
September 2016: Pediatric Blood & Cancer
James N Hughes, Matthew Aubert, Jessica Heatlie, Alison Gardner, Jozef Gecz, Thomas Morgan, Joseph Belsky, Paul Q Thomas
OBJECTIVES: IGSF1 deficiency syndrome (IDS) is a recently described X-linked congenital central hypothyroidism disorder characterized by loss-of-function mutations in the immunoglobulin superfamily member 1 (IGSF1) gene. The phenotypic spectrum and intrafamilial variability associated with IDS remain unclear due to a paucity of large, well-characterized pedigrees. Here, we present phenotypic analysis and molecular characterization of a five-generation pedigree with IGSF1 deficiency containing 10 affected males...
October 2016: Clinical Endocrinology
Michael J Friez, Susan Sklower Brooks, Roger E Stevenson, Michael Field, Monica J Basehore, Lesley C Adès, Courtney Sebold, Stephen McGee, Samantha Saxon, Cindy Skinner, Maria E Craig, Lucy Murray, Richard J Simensen, Ying Yzu Yap, Marie A Shaw, Alison Gardner, Mark Corbett, Raman Kumar, Matthias Bosshard, Barbara van Loon, Patrick S Tarpey, Fatima Abidi, Jozef Gecz, Charles E Schwartz
BACKGROUND: X linked intellectual disability (XLID) syndromes account for a substantial number of males with ID. Much progress has been made in identifying the genetic cause in many of the syndromes described 20-40 years ago. Next generation sequencing (NGS) has contributed to the rapid discovery of XLID genes and identifying novel mutations in known XLID genes for many of these syndromes. METHODS: 2 NGS approaches were employed to identify mutations in X linked genes in families with XLID disorders...
2016: BMJ Open
Monica K Borucki, Victoria Lao, Mona Hwang, Shea Gardner, Danielle Adney, Vincent Munster, Richard Bowen, Jonathan E Allen
[This corrects the article DOI: 10.1371/journal.pone.0146251.].
2016: PloS One
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