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Gardner Syndrome

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https://www.readbyqxmd.com/read/28967191/missense-variants-in-the-x-linked-gene-prps1-cause-retinal-degeneration-in-females
#1
Alessia Fiorentino, Kaoru Fujinami, Gavin Arno, Anthony G Robson, Nikolas Pontikos, Monica Arasanz Armengol, Vincent Plagnol, Takaaki Hayashi, Takeshi Iwata, Matthew Parker, Tom Fowler, Augusto Rendon, Jessica C Gardner, Robert H Henderson, Michael E Cheetham, Andrew R Webster, Michel Michaelides, Alison J Hardcastle
Retinal dystrophies are a heterogeneous group of disorders of visual function leading to partial or complete blindness. We report the genetic basis of an unusual retinal dystrophy in five families with affected females and no affected males. Heterozygous missense variants were identified in the X-linked PRPS1 gene: c.47C > T, p.(Ser16Phe); c.586C > T, p.(Arg196Trp); c.641G > C, p.(Arg214Pro) and c.640C > T, p.(Arg214Trp). Missense variants in PRPS1 are usually associated with disease in male patients, including Arts Syndrome, Charcot-Marie-Tooth and non-syndromic sensorineural deafness...
October 2, 2017: Human Mutation
https://www.readbyqxmd.com/read/28937429/spectrum-of-hybrid-cysts-and-their-clinical-significance
#2
Ray-San Chang, Xiao-Feng Yao, Yu-Hung Wu
A hybrid cyst is a cutaneous cyst combining different types of keratinization of those seen in the folliculo-sebaceous-apocrine unit. Previous reports found that it may be occasionally associated with Gardner syndrome. This study aimed to clarify the pathologic findings and clinical significance of hybrid cyst based on case series observations. We retrospectively reviewed patients who fulfilled the pathological criteria of hybrid cyst from 2001 to 2015. The patient profiles, clinical presentations, pathological findings, and associated diseases were analyzed by reviewing the medical records and slides...
September 12, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28782241/a-novel-mutation-of-adenomatous-polyposis-coli-apc-gene-results-in-the-formation-of-supernumerary-teeth
#3
Fang Yu, Wenping Cai, Beizhan Jiang, Laijun Xu, Shangfeng Liu, Shouliang Zhao
Supernumerary teeth are teeth that are present in addition to normal teeth. Although several hypotheses and some molecular signalling pathways explain the formation of supernumerary teeth, but their exact disease pathogenesis is unknown. To study the molecular mechanisms of supernumerary tooth-related syndrome (Gardner syndrome), a deeper understanding of the aetiology of supernumerary teeth and the associated syndrome is needed, with the goal of inhibiting disease inheritance via prenatal diagnosis. We recruited a Chinese family with Gardner syndrome...
August 7, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28754583/utilising-symptom-dimensions-with-diagnostic-categories-improves-prediction-of-time-to-first-remission-in-first-episode-psychosis
#4
Olesya Ajnakina, John Lally, Marta Di Forti, Simona A Stilo, Anna Kolliakou, Poonam Gardner-Sood, Paola Dazzan, Carmine Pariante, Tiago Reis Marques, Valeria Mondelli, James MacCabe, Fiona Gaughran, Anthony S David, Daniel Stamate, Robin M Murray, Helen L Fisher
There has been much recent debate concerning the relative clinical utility of symptom dimensions versus conventional diagnostic categories in patients with psychosis. We investigated whether symptom dimensions rated at presentation for first-episode psychosis (FEP) better predicted time to first remission than categorical diagnosis over a four-year follow-up. The sample comprised 193 FEP patients aged 18-65years who presented to psychiatric services in South London, UK, between 2006 and 2010. Psychopathology was assessed at baseline with the Positive and Negative Syndrome Scale and five symptom dimensions were derived using Wallwork/Fortgang's model; baseline diagnoses were grouped using DSM-IV codes...
July 25, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28736353/sport-related-structural-brain-injury-3-cases-of-subdural-hemorrhage-in-american-high-school-football
#5
Aaron M Yengo-Kahn, Ryan M Gardner, Andrew W Kuhn, Gary S Solomon, Christopher M Bonfield, Scott L Zuckerman
BACKGROUND: The risk of sport-related concussion (SRC) has emerged as a major public health concern. In rare instances, sport-related head injuries can be even more severe, such as subdural hemorrhage, epidural hemorrhage, or malignant cerebral edema. Unlike SRCs, sport-related structural brain injury (SRSBI) is rare, may require neurosurgical intervention, and can lead to permanent neurologic deficit or death. Data characterizing SRSBI are limited, and many have recognized the need to better understand these catastrophic brain injuries...
October 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28655309/the-effectiveness-of-emergency-nurse-practitioner-service-in-the-management-of-patients-presenting-to-rural-hospitals-with-chest-pain-a-multisite-prospective-longitudinal-nested-cohort-study
#6
Tina E Roche, Glenn Gardner, Leanne Jack
BACKGROUND: Health reforms in service improvement have included the use of nurse practitioners. In rural emergency departments, nurse practitioners work to the full scope of their expanded role across all patient acuities including those presenting with undifferentiated chest pain. Currently, there is a paucity of evidence regarding the effectiveness of emergency nurse practitioner service in rural emergency departments. Inquiry into the safety and quality of the service, particularly regarding the management of complex conditions is a priority to ensure that this service improvement model meets health care needs of rural communities...
June 27, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28643402/clinical-findings-in-right-ventricular-noncompaction-in-hypoplastic-left-heart-syndrome
#7
Monique M Gardner, Meryl S Cohen
BACKGROUND: Noncompaction is a poorly understood form of cardiomyopathy that typically affects the left ventricle and may be associated with congenital heart disease. Right ventricular noncompaction (RVNC) may occur when the left ventricle is affected but is rarely seen in isolation. RVNC may have clinical significance affecting surgical and long-term outcomes. We describe the diagnosis and clinical course in three patients at our institution. METHODS: We performed a retrospective review of patients diagnosed with RVNC over a 12-month period at our institution and reviewed their imaging and clinical course...
June 23, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28630719/hip-arthroscopy-results-in-improved-patient-reported-outcomes-compared-to-non-operative-management-of-waitlisted-patients
#8
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
#9
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 3s) 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
#10
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...
August 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
#11
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
#12
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
#13
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...
July 5, 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
#14
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
#15
Matthew B Johnson, Elisa De Franco, Hana Lango Allen, Aisha Al Senani, Nancy Elbarbary, Zeynep Siklar, Merih Berberoglu, Zineb Imane, Alireza Haghighi, Zahra Razavi, 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...
August 2017: Diabetes
https://www.readbyqxmd.com/read/28421271/-hereditary-bone-tumors
#16
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...
May 2017: Der Pathologe
https://www.readbyqxmd.com/read/28413596/non-syndromic-multiple-supernumerary-premolars-clinicoradiographic-report-of-five-cases
#17
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
#18
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-cd19-car-t-cells-of-defined-formulation-and-dose-in-children-and-young-adults
#19
Rebecca A Gardner, Olivia Finney, Colleen Annesley, Hannah Brakke, Corinne Summers, Kasey Leger, Marie Bleakley, Christopher Brown, Stephanie Mgebroff, Karen S Kelly-Spratt, Virginia Hoglund, Catherine Lindgren, Assaf P Oron, Daniel Li, Stanley R Riddell, Julie R Park, Michael C Jensen
Transitioning CD19-directed chimeric antigen receptor (CAR) T cells from early-phase trials in relapsed patients to a viable therapeutic approach with predictable efficacy and low toxicity for broad application among 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 acute lymphoblastic leukemia was conducted using a CD19 CAR product of defined CD4/CD8 composition, uniform CAR expression, and limited effector differentiation...
June 22, 2017: Blood
https://www.readbyqxmd.com/read/28399346/tumors-and-related-lesions-of-the-pigmented-epithelium
#20
REVIEW
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
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