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Gardner Syndrome

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https://www.readbyqxmd.com/read/28630719/hip-arthroscopy-results-in-improved-patient-reported-outcomes-compared-to-non-operative-management-of-waitlisted-patients
#1
Luke Spencer-Gardner, Ruch Dissanayake, Amir Kalanie, Parminder Singh, John O'Donnell
Hip arthroscopy (HA) is an established treatment option to address intra-articular pathology of the hip. However, some clinicians encourage non-operative management (NOM). Non-operative management may include active measures such as physiotherapy and intra-articular steroid injections, or NOM may involve so called watchful waiting with no active intervention. These approaches, along with surgery have been detailed recently in the Warwick Agreement, a Consensus Statement regarding diagnosis and treatment of Femoroacetabular Impingement Syndrome The aim of this study is to compare the change in clinical outcome scores of waitlisted patients with intra-articular hip pathology who receive no active treatment with matched controls that have undergone HA...
January 2017: Journal of Hip Preservation Surgery
https://www.readbyqxmd.com/read/28625784/heightened-sympathetic-arousal-is-demonstrated-by-skin-conductance-responsivity-to-auditory-stimuli-in-a-small-cohort-of-neonates-with-opiate-withdrawal
#2
Christiana N Oji-Mmuo, Fumiyuki Chin Gardner, Kim K Doheny
To determine the effects of auditory stimulus on skin conductance (SC) in infants with severe neonatal abstinence syndrome (NAS) that required morphine treatment (MT) compared with NAS infants that did not require morphine treatment (non-MT). We prospectively enrolled opiate-exposed term infants without polysubstance exposure. Skin conductance responses to an auditory stimulus (ringing a bell for 3seconds) near the time of discharge were obtained. Skin conductance was measured before, during, and after the stimulus...
June 15, 2017: Brain Research Bulletin
https://www.readbyqxmd.com/read/28602933/familial-epilepsy-with-anterior-polymicrogyria-as-a-presentation-of-col18a1-mutations
#3
Mark A Corbett, Samantha J Turner, Alison Gardner, Jeremy Silver, Jim Stankovich, Richard J Leventer, Christopher P Derry, Renée Carroll, Thuong Ha, Ingrid E Scheffer, Melanie Bahlo, Graeme D Jackson, David A Mackey, Samuel F Berkovic, Jozef Gecz
Knobloch syndrome [OMIM: (KNO1) #267750] is a rare and clinically heterogeneous autosomal recessive disorder caused by mutations in COL18A1. Knobloch syndrome is characterised by abnormalities of the eye and occipital skull defects however the full phenotypic spectrum is yet to be defined. This report describes a family of four affected sisters with polymicrogyria, refractory seizures, and intellectual impairment of varying severity with a Lennox-Gastaut phenotype, and complex eye abnormalities where a syndromic diagnosis was not initially made...
June 8, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28600387/genetic-testing-in-the-evaluation-of-unexplained-cardiac-arrest-from-the-casper-cardiac-arrest-survivors-with-preserved-ejection-fraction-registry
#4
Greg Mellor, Zachary W M Laksman, Rafik Tadros, Jason D Roberts, Brenda Gerull, Christopher S Simpson, George J Klein, Jean Champagne, Mario Talajic, Martin Gardner, Christian Steinberg, Laura Arbour, David H Birnie, Paul Angaran, Richard Leather, Shubhayan Sanatani, Vijay S Chauhan, Colette Seifer, Jeffrey S Healey, Andrew D Krahn
BACKGROUND: Unexplained cardiac arrest may be because of an inherited arrhythmia syndrome. The role of genetic testing in cardiac arrest survivors without a definite clinical phenotype is unclear. METHODS AND RESULTS: The CASPER (Cardiac Arrest Survivors with Preserved Ejection Fraction Registry) is a large registry of cardiac arrest survivors where initial assessment reveals normal coronary arteries, left ventricular function, and resting ECG. Of 375 cardiac arrest survivors in CASPER from 2006 to 2015, 174 underwent genetic testing...
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28588785/sporadic-giant-intra-abdominal-desmoid-tumor-a-radiological-case-report
#5
Karla Kovačević, Dragica Obad-Kovačević, Jelena Popić-Ramač
Desmoid tumor (DT) is a locally invasive form of fibromatosis, comprising only 0.03% of all tumors. DTs occur more frequently in patients with familial adenomatous polyposis and Gardner's syndrome, as intra-abdominal or anterior abdominal wall tumors, whereas sporadic DTs are more likely to be extra-abdominal (only 5% of sporadic DTs are intra-abdominal). There is also an association of DTs with prior trauma, surgery, estrogen exposure and childbirth. Imaging studies, such as computed tomography (CT) and magnetic resonance imaging (MRI) are used for preoperative diagnosis and for the planning of the surgery...
June 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28571312/identification-of-indole-diterpenes-in-ipomoea-asarifolia-and-ipomoea-muelleri-plants-tremorgenic-to-livestock
#6
Stephen T Lee, Dale R Gardner, Daniel Cook
Ipomoea asarifolia has been associated with a tremorgenic syndrome in livestock in Brazil and was recently reported to contain tremorgenic indole diterpenes. Ipomoea muelleri has been reported to cause a similar tremorgenic syndrome in livestock in Australia. Ipomoea asarifolia and I. muelleri were investigated by high-performance liquid chromatography-high-resolution mass spectometry (HPLC-HRMS) and high-performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) for indole diterpene composition...
June 20, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/28526233/keratinocyte-growth-factor-for-the-treatment-of-the-acute-respiratory-distress-syndrome-kare-a-randomised-double-blind-placebo-controlled-phase-2-trial
#7
Daniel F McAuley, Lj Mark Cross, Umar Hamid, Evie Gardner, J Stuart Elborn, Kathy M Cullen, Ahilanandan Dushianthan, Michael Pw Grocott, Michael A Matthay, Cecilia M O'Kane
BACKGROUND: Data from in-vitro, animal, and human lung injury models suggest that keratinocyte growth factor (KGF) might be beneficial in acute respiratory distress syndrome (ARDS). The objective of this trial was to investigate the effect of KGF in patients with ARDS. METHODS: We did a double-blind, allocation concealed, randomised, placebo-controlled phase 2 trial in two intensive care units in the UK, involving patients fulfilling the American-European Consensus Conference Definition of ARDS...
May 16, 2017: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/28473463/recessively-inherited-lrba-mutations-cause-autoimmunity-presenting-as-neonatal-diabetes
#8
Matthew B Johnson, Elisa De Franco, Hana Lango-Allen, Aisha Al Senani, Nancy Elbarbary, Zeynep Siklar, Merih Berberoglu, Zineb Imane, Alireza Haghighi, Irfan Ullah, Saif Alyaarubi, Daphne Gardner, Sian Ellard, Andrew T Hattersley, Sarah E Flanagan
Young-onset autoimmune diabetes associated with additional autoimmunity usually reflects a polygenic predisposition but rare cases result from monogenic autoimmunity. Diagnosing monogenic autoimmunity is crucial for patients' prognosis and clinical management. We sought to identify novel genetic causes of autoimmunity presenting with neonatal diabetes (NDM; diagnosis <6 months).We performed exome sequencing in a patient with NDM and autoimmune lymphoproliferative syndrome and his unrelated, unaffected parents and identified compound heterozygous null mutations in LRBA Biallelic LRBA mutations cause Common Variable Immunodeficiency-8, however NDM has not been confirmed in this disorder...
May 4, 2017: Diabetes
https://www.readbyqxmd.com/read/28421271/-hereditary-bone-tumors
#9
D Baumhoer
Hereditary bone tumors are rare and result from mutations affecting cell cycle regulation (e.g. retinoblastoma syndrome/RB1 and Li-Fraumeni syndrome/TP53, Gardner syndrome/APC), energy metabolism (enchondromatosis/IDH1/2), complex signaling cascades (multiple hereditary exostoses/EXT1/2) and DNA integrity (Rothmund-Thomson/RECQL4, Werner/WRN and Bloom syndromes/BLM). The majority of syndromes are incompletely understood and can lead to multiple benign tumors, of which some might undergo secondary malignant transformation over time (enchondromatosis: enchondromas, multiple hereditary exostoses: osteochondromas, Gardner syndrome: osteomas) or bone sarcomas, primarily osteosarcomas as primary (Li-Fraumeni, Rothmund-Thomson, Werner and Bloom syndromes) or secondary manifestation (retinoblastoma syndrome) of the disease...
April 18, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28413596/non-syndromic-multiple-supernumerary-premolars-clinicoradiographic-report-of-five-cases
#10
Renu Tanwar, Vipul Jaitly, Aadya Sharma, Rashmi Heralgi, Munish Ghangas, Ankur Bhagat
Hyperdontia or supernumerary teeth in both arches without any syndromic manifestation are extremely rare. Supernumerary teeth are commonly associated with Gardner's syndrome, cleft lip and palate, cleidocranial dysplasia and trichorhinopha-langeal syndrome. Five cases of non-syndromic multiple premolars of maxillary and mandibular arches in Indian patients are presented here. This case series reports three cases with multiple (9 in maximum), bilaterally impacted and erupted supernumerary teeth and two cases with supernumerary premolars in non-syndromic cases from Indian patients...
2017: Journal of Dental Research, Dental Clinics, Dental Prospects
https://www.readbyqxmd.com/read/28413361/cost-effectiveness-analysis-of-the-national-decentralization-policy-of-antiretroviral-treatment-programme-in-zambia
#11
Shinsuke Miyano, Gardner Syakantu, Kenichi Komada, Hiroyoshi Endo, Tomohiko Sugishita
BACKGROUND: In resource-limited settings with a high prevalence of human immunodeficiency virus (HIV) infection such as Zambia, decentralization of HIV/acquired immunodeficiency syndrome (HIV/AIDS) treatment and care with effective use of resources is a cornerstone of universal treatment and care. OBJECTIVES: This research aims to analyse the cost effectiveness of the National Mobile Antiretroviral Therapy (ART) Services Programme in Zambia as a means of decentralizing ART services...
2017: Cost Effectiveness and Resource Allocation: C/E
https://www.readbyqxmd.com/read/28408462/intent-to-treat-leukemia-remission-by-cd19car-t-cells-of-defined-formulation-and-dose-in-children-and-young-adults
#12
Rebecca A Gardner, Olivia Finney, Colleen Annesley, Hannah Brakke, Corinne Summers, Kasey Leger, Marie Bleakley, Christopher Brown, Stephanie Mgebroff, Karen Spratt, Virginia Hoglund, Catherine Lindgren, Assaf P Oron, Daniel Li, Stanley R Riddell, Julie R Park, Michael C Jensen
Transitioning CD19-directed CAR-T cells from early phase trials in relapsed patients to a viable therapeutic approach with predictable efficacy and low toxicity for broad application in patients with high unmet need is currently complicated by product heterogeneity resulting from transduction of undefined T cell mixtures, variability of transgene expression, and terminal differentiation of cells at the end of culture. A phase 1 trial of 45 children and young adults with relapsed or refractory B-lineage ALL was conducted using a CD19 CAR product of defined CD4/CD8 composition, uniform CAR expression, and limited effector differentiation...
April 13, 2017: Blood
https://www.readbyqxmd.com/read/28399346/tumors-and-related-lesions-of-the-pigmented-epithelium
#13
Jerry A Shields, Carol L Shields
Several tumors and pseudotumors can arise from the iris pigment epithelium (IPE), ciliary pigment epithelium (CPE), and retinal pigment epithelium (RPE), including cysts of the IPE, solitary congenital hypertrophy of the RPE (CHRPE), multifocal CHRPE ("bear tracks"), congenital simple hamartoma of the RPE, combined hamartoma of the retina and RPE, and acquired epithelioma of IPE, CPE, and RPE. This article describes examples of pigment epithelial tumors and pseudotumors by reviewing the literature and cases on file in the Oncology Service at Wills Eye Hospital...
March 2017: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/28387096/-a-familial-non-medullary-thyroid-carcinoma-fnmtc-a-clinical-and-genetic-update
#14
REVIEW
H Valdes-Socin, L Palmeira, M-C Burlacu, A-F Daly, V Bours, A Beckers
The syndrome of Familial Non Medullary Thyroid Carcinoma (FNMTC) includes two or more patients with an isolated non-medullary thyroid cancer (papillary, follicular, anaplastic) within the same family. To diagnose FNMTC, the clinician must exclude a syndromic presentation such as the syndromes of Cowden, Gardner or Werner, and the Carney Complex. Up to now, a hundred families with FNMTC have been genetically studied, including forms with (Ch19p13.2) or without oxyphilia (Ch2q21), in association with a multinodular goiter (Ch14q32), or with a renal cancer (Ch1q21)...
December 2016: Revue Médicale de Liège
https://www.readbyqxmd.com/read/28383189/maternal-hirsutism-and-autism-spectrum-disorders-in-offspring
#15
Brian K Lee, Stefan Arver, Linnea Widman, Renee M Gardner, Cecilia Magnusson, Christina Dalman, Kyriaki Kosidou
Because animal and human studies indicate that androgen exposure can influence neurodevelopment, it has been hypothesized that prenatal exposure to excess androgens may predispose to disorders with male-skewed ratio such as autism spectrum disorders (ASD). Therefore, maternal conditions characterized by hyperandrogenism such as polycystic ovary syndrome (PCOS) or hirsutism may be relevant to child ASD. We previously found in a large Swedish case-control study of 23,748 ASD cases and 208,796 matched controls that PCOS in mothers is associated with increased offspring risk of ASD...
April 6, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28363337/-gardner-diamond-syndrome-in-a-young-man-a-case-report-and-literature-review
#16
P Henneton, M Frank, E Litvinova, S Miranda, E Messas, L Darnige
INTRODUCTION: Gardner-Diamond syndrome is a rare condition secondary to a sensitization to self-erythrocytes. It is predominantly seen in women and presents as a painful ecchymotic disorder. An underlying psychiatric disease or a triggering psychological stress is of important diagnostic value. CASE REPORT: We report a 24-year-old patient who presented with intermittent spontaneous painful ecchymosis since 5 years. Complementary investigations failed to identify an organic disorder...
March 28, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/28339472/vector-status-of-aedes-species-determines-geographical-risk-of-autochthonous-zika-virus-establishment
#17
Lauren Gardner, Nan Chen, Sahotra Sarkar
BACKGROUND: The 2015-16 Zika virus pandemic originating in Latin America led to predictions of a catastrophic global spread of the disease. Since the current outbreak began in Brazil in May 2015 local transmission of Zika has been reported in over 60 countries and territories, with over 750 thousand confirmed and suspected cases. As a result of its range expansion attention has focused on possible modes of transmission, of which the arthropod vector-based disease spread cycle involving Aedes species is believed to be the most important...
March 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28333616/cross-sectional-surveillance-of-middle-east-respiratory-syndrome-coronavirus-mers-cov-in-dromedary-camels-and-other-mammals-in-egypt-august-2015-to-january-2016
#18
Mohamed Ali, Rabeh El-Shesheny, Ahmed Kandeil, Mahmoud Shehata, Basma Elsokary, Mokhtar Gomaa, Naglaa Hassan, Ahmed El Sayed, Ahmed El-Taweel, Heba Sobhy, Folorunso Oludayo Fasina, Gwenaelle Dauphin, Ihab El Masry, Abebe Wossene Wolde, Peter Daszak, Maureen Miller, Sophie VonDobschuetz, Subhash Morzaria, Juan Lubroth, Yilma Jobre Makonnen
A cross-sectional study was conducted in Egypt to determine the prevalence of Middle East respiratory syndrome coronavirus (MERS-CoV) in imported and resident camels and bats, as well as to assess possible transmission of the virus to domestic ruminants and equines. A total of 1,031 sera, 1,078 nasal swabs, 13 rectal swabs, and 38 milk samples were collected from 1,078 camels in different types of sites. In addition, 145 domestic animals and 109 bats were sampled. Overall, of 1,031 serologically-tested camels, 871 (84...
March 16, 2017: Euro Surveillance: Bulletin Européen sur les Maladies Transmissibles, European Communicable Disease Bulletin
https://www.readbyqxmd.com/read/28329546/gardner-diamond-syndrome
#19
Joyce H Park, Sarah Yagerman, Hao Feng, Randie H Kim, Shane A Meehan, Jesse Lewin
Gardner-Diamond syndrome, which also is knownas autoerythrocyte sensitization disorder, is a raresyndrome of inflammatory, edematous papulesthat evolve into painful ecchymoses on the trunkand lower legs after a period of stress with no priorhistory of trauma. This syndrome usually occurs inwomen with a history of psychiatric disorders, themost common one being depression. Although theexact mechanism of injury is not well understood,it is hypothesized that these patients haveautoantibodies to phosphatidylserine, which is aphospholipid membrane component in erythrocytes...
December 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28247059/a-mucinous-cystadenoma-in-rectal-cuff-of-a-patient-with-familial-adenomatous-polyposis
#20
Seyed Reza Fatemi, Fakhri Alsadat Anaraki, Behzad Hatami, Zhaleh Mohsenifar
INTRODUCTION: Familial adenomatous polyposis (FAP) may be associated with some extracolonic manifestations which in this vein, it is known as Gardner's syndrome. To our knowledge, so far, there is no report of mucinous cystadenoma in association with FAP. CASE PRESENTATION: We report a 31-year-old woman with FAP who underwent total proctocolectomy with ileal pouch-anal anastomosis 5 years earlier. During endoscopic surveillance, she was found to have a submucosal lesion in rectal cuff...
February 28, 2017: International Journal of Colorectal Disease
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