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Gardner's syndrome

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https://www.readbyqxmd.com/read/27889187/maternal-polycystic-ovary-syndrome-and-risk-for-attention-deficit-hyperactivity-disorder-in-the-offspring
#1
Kyriaki Kosidou, Christina Dalman, Linnea Widman, Stefan Arver, Brian K Lee, Cecilia Magnusson, Renee M Gardner
BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) is the most common childhood neurodevelopmental disorder, and boys are two to three times more likely to develop ADHD. Maternal polycystic ovary syndrome (PCOS), a common metabolic disorder associated with excess circulating androgens, has been associated with increased risk for autism spectrum disorder in the offspring. In this study, we aimed to investigate whether maternal PCOS increases the risk for ADHD in the offspring...
October 6, 2016: Biological Psychiatry
https://www.readbyqxmd.com/read/27884224/the-renin-angiotensin-aldosterone-system-in-obesity-and-hypertension-roles-in-the-cardiorenal-metabolic-syndrome
#2
REVIEW
Peminda K Cabandugama, Michael J Gardner, James R Sowers
In the United States, more than 50 million people have blood pressure at or above 120/80 mm Hg. All components of cardiorenal metabolic syndrome (CRS) are linked to metabolic abnormalities and obesity. A major driver for CRS is obesity. Current estimates show that many of those with hypertension and CRS show some degree of systemic and cardiovascular insulin resistance. Several pathophysiologic factors participate in the link between hypertension and CRS. This article updates recent literature with a focus on the function of insulin resistance, obesity, and renin angiotensin aldosterone system-mediated oxidative stress on endothelial dysfunction and the pathogenesis of hypertension...
January 2017: Medical Clinics of North America
https://www.readbyqxmd.com/read/27810194/-ectopic-craniopharyngioma-and-gardner-s-syndrome-case-report-and-literature-review
#3
Juan Antonio Álvarez Salgado, Francisco González-Llanos Fernández de Mesa, Jorge Javier Villaseñor Ledezma, Maria de Los Angeles Cañizares Méndez, Igor Paredes Sansinenea, Angel Rodríguez de Lope-Llorca, Manuela Mollejo Villanueva
INTRODUCTION: Craniopharyngioma accounts for around 3% of all primary tumours of the central nervous system. It is usually located in the suprasellar region, although it may also have an ectopic location. CASE REPORT: The case is presented on 29 year-old male who underwent surgery for a jaw osteoma when he was 19 years old and was subsequently diagnosed with Gardner's syndrome. He was admitted in our Hospital with right facial paresis and diplopia of one day onset...
October 31, 2016: Neurocirugía
https://www.readbyqxmd.com/read/27807061/familial-non-medullary-thyroid-cancer-unraveling-the-genetic-maze
#4
REVIEW
Samantha Peiling Yang, Joanne Ngeow
Familial non-medullary thyroid cancer (FNMTC) constitutes 3-9% of all thyroid cancers. Out of all FNMTC cases, only 5% in the syndromic form has well-studied driver germline mutations. These associated syndromes include Cowden syndrome, familial adenomatous polyposis, Gardner syndrome, Carney complex type 1, Werner syndrome and DICER1 syndrome. It is important for the clinician to recognize these phenotypes so that genetic counseling and testing can be initiated to enable surveillance for associated malignancies and genetic testing of family members...
December 2016: Endocrine-related Cancer
https://www.readbyqxmd.com/read/27799065/a-case-study-of-an-integrative-genomic-and-experimental-therapeutic-approach-for-rare-tumors-identification-of-vulnerabilities-in-a-pediatric-poorly-differentiated-carcinoma
#5
Filemon S Dela Cruz, Daniel Diolaiti, Andrew T Turk, Allison R Rainey, Alberto Ambesi-Impiombato, Stuart J Andrews, Mahesh M Mansukhani, Peter L Nagy, Mariano J Alvarez, Andrea Califano, Farhad Forouhar, Beata Modzelewski, Chelsey M Mitchell, Darrell J Yamashiro, Lianna J Marks, Julia L Glade Bender, Andrew L Kung
BACKGROUND: Precision medicine approaches are ideally suited for rare tumors where comprehensive characterization may have diagnostic, prognostic, and therapeutic value. We describe the clinical case and molecular characterization of an adolescent with metastatic poorly differentiated carcinoma (PDC). Given the rarity and poor prognosis associated with PDC in children, we utilized genomic analysis and preclinical models to validate oncogenic drivers and identify molecular vulnerabilities...
October 31, 2016: Genome Medicine
https://www.readbyqxmd.com/read/27796853/newborn-screening-for-sickle-cell-disease-in-jamaica-logistics-and-experience-with-umbilical-cord-samples
#6
G R Serjeant, B E Serjeant, K P Mason, R Gardner, L Warren, F Gibson, M Coombs
The study aims to describe the logistics and results of a programme for newborn screening for sickle cell disease based on samples from the umbilical cord. Samples were dried on Guthrie cards and analysed by high pressure liquid chromatography. All suspected clinically significant abnormal genotypes were confirmed by age 4-6 weeks with family studies and then recruited to local sickle cell clinics. The programme has screened 66,833 samples with the sickle cell trait in 9.8 % and the HbC trait in 3.8 %. Sickle cell syndromes occurred in 407 babies (204 SS, 148 SC, 35 Sbeta(+) thalassaemia, 6 Sbeta(o) thalassaemia, 6 sickle cell-variants, 8 sickle cell-hereditary persistence of fetal haemoglobin) and HbC syndromes in 42 (22 CC, 14 Cbeta(+) thalassaemia, 1 Cbeta(o) thalassaemia, 5 HbC- hereditary persistence of fetal haemoglobin)...
October 29, 2016: Journal of Community Genetics
https://www.readbyqxmd.com/read/27769867/factors-associated-with-sedentary-behavior-in-patients-with-intermittent-claudication
#7
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
https://www.readbyqxmd.com/read/27768599/a-role-for-the-vitamin-d-pathway-in-non-intestinal-lesions-in-genetic-and-carcinogen-models-of-colorectal-cancer-and-in-familial-adenomatous-polyposis
#8
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
https://www.readbyqxmd.com/read/27686726/cannabidiol-a-potential-treatment-for-post-ebola-syndrome
#9
Sandra E Reznik, Eliot L Gardner, Charles R Ashby
Patients recovered from Ebola virus infection may experience short- and long-term physical, neuropsychological and social sequelae, including arthralgia, musculoskeletal pain, ophthalmic inflammation, auditory problems, fatigue, confusion, insomnia, short-term memory impairment, anxiety, depression and anorexia, all lasting from two weeks to more than two years. Currently there are no treatments for post Ebola sequelae. We hypothesize that cannabidiol (CBD) may attenuate some of these post Ebola sequelae, several of which have been postulated to result from inflammation and/or an autoimmune response...
September 26, 2016: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/27635072/cardiac-abnormalities-in-first-degree-relatives-of-unexplained-cardiac-arrest-victims-a-report-from-the-cardiac-arrest-survivors-with-preserved-ejection-fraction-registry
#10
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
https://www.readbyqxmd.com/read/27601536/risk-of-global-spread-of-middle-east-respiratory-syndrome-coronavirus-mers-cov-via-the-air-transport-network
#11
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
https://www.readbyqxmd.com/read/27538186/reconstruction-of-an-abdominal-wall-defect-with-biologic-mesh-after-resection-of-a-desmoid-tumor-in-a-patient-with-a-gardner-s-syndrome
#12
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
https://www.readbyqxmd.com/read/27501963/orthokeratinized-odontogenic-cyst-with-an-associated-keratocystic-odontogenic-tumor-component-and-ghost-cell-keratinization-and-calcifications-in-a-patient-with-gardner-syndrome
#13
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
https://www.readbyqxmd.com/read/27486521/persistent-constipation-and-abdominal-adverse-events-with-newer-treatments-for-constipation
#14
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
https://www.readbyqxmd.com/read/27399243/pediatric-fibroblastic-and-myofibroblastic-tumors-a-pictorial-review
#15
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
https://www.readbyqxmd.com/read/27391496/gardner-syndrome-with-unusual-maxillofacial-manifestation
#16
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
https://www.readbyqxmd.com/read/27377916/intestinal-perforation-during-chemotherapeutic-treatment-of-intra-abdominal-desmoid-tumor-in-patients-with-gardner-s-syndrome-report-of-two-cases
#17
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
https://www.readbyqxmd.com/read/27356087/familial-recurrence-of-3mc-syndrome-in-consanguineous-families-a-clinical-and-molecular-diagnostic-approach-with-review-of-the-literature
#18
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
https://www.readbyqxmd.com/read/27307686/classical-presentation-of-gardner-s-syndrome-in-an-indian-patient-a-case-report
#19
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
https://www.readbyqxmd.com/read/27301940/intracranial-aneurysms-in-sickle-cell-disease-are-associated-with-the-hemoglobin-ss-genotype-but-not-with-moyamoya-syndrome
#20
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
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