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Gardner's syndrome

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https://www.readbyqxmd.com/read/29751773/an-unusual-finding-in-a-desmoid-type-fibromatosis-of-the-pancreas-a-case-report-and-review-of-the-literature
#1
Joseph Clarence Torres, Chen Xin
BACKGROUND: Desmoid-type fibromatoses are rare benign and fibrous tumors that account for approximately 0.03% of total neoplasms. Within this category of neoplasms, pancreatic desmoid-type fibromatosis is an extremely rare subgroup, accounting for approximately 5% of desmoid-type fibromatoses. Although the etiology is unknown, some risk factors include trauma, surgery, family history of desmoid tumor, pregnancy, use of contraceptives, genetic mutation, and familial adenomatous polyposis or Gardner syndrome...
May 12, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29704283/selective-dopamine-d-3-receptor-antagonism-significantly-attenuates-stress-induced-immobility-in-a-rat-model-of-post-traumatic-stress-disorder
#2
Onarae V Rice, Charles R Ashby, Clark Dixon, William Laurenzo, Jason Hayden, Rui Song, Jin Li, Amit K Tiwari, Eliot L Gardner
Post-traumatic stress disorder (PTSD) is a debilitating psychiatric syndrome that occurs in individuals exposed to extremely threatening or traumatic events. In both animals and humans, dopamine (DA) function appears to be dysregulated in brain areas involved in the conditioned fear response(s) that underlie PTSD. In this study, we determined the effect of the selective DA D3 receptor antagonists YQA14A (6.25, 12.5 and 25 mg/kg i.p.) and SB-277011A (6 mg/kg i.p.) on tone-induced fear (assessed by measuring freeze time) in a modified version of the single-prolonged stress (SPS) model of PTSD in adult male Sprague-Dawley rats...
April 27, 2018: Synapse
https://www.readbyqxmd.com/read/29685069/the-assessment-and-treatment-of-antipsychotic-induced-akathisia
#3
Tamara Pringsheim, David Gardner, Donald Addington, Davide Martino, Francesca Morgante, Lucia Ricciardi, Norman Poole, Gary Remington, Mark Edwards, Alan Carson, Thomas R E Barnes
Akathisia is a common and distressing neuropsychiatric syndrome associated with antipsychotic medication, characterised by subjective and objective psychomotor restlessness. The goal of this guideline is to provide clinicians with recommendations on the assessment and treatment of akathisia. We performed a systematic review of therapeutic studies assessing the treatment of antipsychotic-induced extrapyramidal symptoms. Forty studies on akathisia and 4 systematic reviews evaluating the adverse effects of antipsychotics were used in the formulation of recommendations...
January 1, 2018: Canadian Journal of Psychiatry. Revue Canadienne de Psychiatrie
https://www.readbyqxmd.com/read/29644197/clinical-spectrum-of-autoerythrocyte-sensitization-syndrome-a-series-of-five-cases
#4
Nandakishore Singh Thokchom, D Pradeepa, N A Bishurul Hafi, Kapila Verma
Autoerythrocyte sensitization syndrome (Gardner Diamond syndrome or GDS) is a rare syndrome characterized by painful and spontaneous purpura commonly affecting adult women, and is mostly associated with psychiatric illness. Diagnosis is mainly based on clinical presentation, exclusion of other simulating diseases, and psychiatric evaluation. Only few cases have been reported till date. We report five cases of spontaneous purpura with a normal investigation profile, except for iron deficiency anemia in 1 patient, of which three had associated underlying psychiatric illness...
March 2018: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/29624652/religious-stigmata-a-dermato-psychiatric-approach-and-differential-diagnosis
#5
REVIEW
Elio Kechichian, Elie Khoury, Sami Richa, Roland Tomb
BACKGROUND: Stigma refers to the wounds reproduced on the human body, similar to the ones inflicted on the Christ during his crucifixion, on the palms, soles, and head, as well as the right or the left side of the chest, the lips and, the back. Whether they are genuine or fabricated, stigmata are still considered a medical enigma. OBJECTIVE: To summarize and analyze all available medical data about stigmata, integrating both its dermatological and psychiatric features...
April 6, 2018: International Journal of Dermatology
https://www.readbyqxmd.com/read/29568399/ctbp1-and-metabolic-syndrome-induce-an-mrna-and-mirna-expression-profile-critical-for-breast-cancer-progression-and-metastasis
#6
Paula L Farré, Georgina D Scalise, Rocío B Duca, Guillermo N Dalton, Cintia Massillo, Juliana Porretti, Karen Graña, Kevin Gardner, Paola De Luca, Adriana De Siervi
Metastatic breast cancer (BrCa) is still one of the main causes of cancer death in women. Metabolic syndrome (MeS), a risk factor for BrCa, is associated to high grade tumors, increased metastasis and recurrence of this disease. C-terminal binding protein 1 (CTBP1) is a co-repressor of tumor suppressor genes that is activated by low NAD+ /NADH ratio. Previously, we demonstrated that CTBP1 hyperactivation by MeS increased tumor growth in MDA-MB-231-derived xenografts regulating several genes and miRNAs. In this work, our aim was to elucidate the role of CTBP1 and MeS in BrCa metastasis...
March 2, 2018: Oncotarget
https://www.readbyqxmd.com/read/29563103/chimeric-antigen-receptor-t-cell-mediated-neurotoxicity-in-non-human-primates
#7
Agne Taraseviciute, Victor Tkachev, Rafael Ponce, Cameron J Turtle, Jessica M Snyder, H Denny Liggitt, David Myerson, Luis Gonzalez-Cuyar, Audrey Baldessari, Chris English, Alison Yu, Hengqi Zheng, Scott N Furlan, Daniel J Hunt, Virginia Hoglund, Olivia Finney, Hannah Brakke, Bruce R Blazar, Carolina Berger, Stanley Riddell, Rebecca Gardner, Leslie S Kean, Michael C Jensen
Chimeric Antigen Receptor (CAR) T cell immunotherapy has revolutionised the treatment of refractory leukemias and lymphomas, but is associated with significant toxicities, namely cytokine release syndrome (CRS) and neurotoxicity. A major barrier to developing therapeutics to prevent CAR T cell-mediated neurotoxicity is the lack of clinically relevant models. Accordingly, we developed a rhesus macaque (RM) model of neurotoxicity via adoptive transfer of autologous CD20-specific CAR T cells. Following cyclophosphamide lymphodepletion, CD20 CAR T cells expand to 272-4450 cells/µl after 7-8 days and elicit CRS and neurotoxicity...
March 21, 2018: Cancer Discovery
https://www.readbyqxmd.com/read/29536528/clca2-epigenetic-regulation-by-ctbp1-hdacs-zeb1-ep300-and-mir-196b-5p-impacts-prostate-cancer-cell-adhesion-and-emt-in-metabolic-syndrome-disease
#8
Juliana Porretti, Guillermo N Dalton, Cintia Massillo, Georgina D Scalise, Paula L Farré, Randolph Elble, Esther N Gerez, Paula Accialini, Ana M Cabanillas, Kevin Gardner, Paola De Luca, Adriana De Siervi
Prostate cancer (PCa) is the most common cancer among men. Metabolic syndrome (MeS) is associated with increased PCa aggressiveness and recurrence. Previously, we proposed C-terminal binding protein 1 (CTBP1), a transcriptional co-repressor, as a molecular link between these two conditions. Notably, CTBP1 depletion decreased PCa growth in MeS mice. The aim of this study was to investigate the molecular mechanisms that explain the link between MeS and PCa mediated by CTBP1. We found that CTBP1 repressed chloride channel accessory 2 (CLCA2) expression in prostate xenografts developed in MeS animals...
March 14, 2018: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29483974/epidermoid-cysts-a-wide-spectrum-of-clinical-presentation-and-successful-treatment-by-surgery-a-retrospective-10-year-analysis-and-literature-review
#9
Uwe Wollina, Dana Langner, Georgi Tchernev, Katlein França, Torello Lotti
Epidermoid cysts are common benign lesions of hair-bearing, and less often glabrous skin. They can also occur in oral mucosa and internal organs. In case of cutaneous lesions, an epidermal punctum is a clinical diagnostic hallmark. The clinical presentation is variable leading to some differential diagnoses. Diagnosis of epidermoid cysts needs histopathological confirmation - not only of the potential of malignant transformation. The treatment of choice is surgery. We report a retrospective analysis of 2159 epidermoid cysts treated surgically...
January 25, 2018: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29469222/borrelia-burgdorferi-infection-and-lyme-disease-in-north-american-horses-a-consensus-statement
#10
T J Divers, R B Gardner, J E Madigan, S G Witonsky, J J Bertone, E L Swinebroad, S E Schutzer, A L Johnson
Borrelia burgdorferi infection is common in horses living in Lyme endemic areas and the geographic range for exposure is increasing. Morbidity after B. burgdorferi infection in horses is unknown. Documented, naturally occurring syndromes attributed to B. burgdorferi infection in horses include neuroborreliosis, uveitis, and cutaneous pseudolymphoma. Although other clinical signs such as lameness and stiffness are reported in horses, these are often not well documented. Diagnosis of Lyme disease is based on exposure to B...
March 2018: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/29422833/common-lesions-in-a-rare-entity-gardner-s-syndrome
#11
Beata Bergler-Czop, Bartosz Miziołek, Karolina Hadasik, Ligia Brzezińska-Wcisło
No abstract text is available yet for this article.
December 2017: Postȩpy Dermatologii i Alergologii
https://www.readbyqxmd.com/read/29411735/the-importance-of-early-diagnosis-of-gardner-s-syndrome-in-dental-examination
#12
M Z Adisen, A Okkesim, M Misirlioglu
Gardner syndrome (GS) is a rare genetic disorder. Dentists play an important role in diagnosis considering that craniomaxillofacial osteomas are a major criteria for GS. We report a 26-year-old male patient who referred to our department with toothache. On routine panoramic radiographic examination, multiple radiopaque masses were detected incidentally. In addition, on extraoral examination, a soft tissue tumor was detected on his shoulder. The patient was referred to the gastroenterology department and intestinal polyps were detected in the colon...
January 2018: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/29388340/early-history-of-the-different-forms-of-neurofibromatosis-from-ancient-egypt-to-the-british-empire-and-beyond-first-descriptions-medical-curiosities-misconceptions-landmarks-and-the-persons-behind-the-syndromes
#13
REVIEW
Martino Ruggieri, Andrea D Praticò, Rosario Caltabiano, Agata Polizzi
The earliest examples of neurofibromatosis (in this case type 1, NF1) can be traced in the Ebers Papyrus (Ancient Egypt, 1.500 B.C.), in a Hellenistic statuette (Smyrna, 323 B.C.), in the coinage of the Parthians kings (247 B.C.) and in some 13th century monks' drawings. These earlier examples are somewhat less well defined as compared to the most recent better defined reports credited as having NF1 including an Inca child mummy (1480-1650 AD), Ulisse Aldrovandi's homuncio ("Monstrorum Historia", 1592 A...
March 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29308099/evaluation-of-a-27-gene-inherited-cancer-panel-across-630-consecutive-patients-referred-for-testing-in-a-clinical-diagnostic-laboratory
#14
Sabrina A Gardner, Katelyn S Weymouth, Wei S Kelly, Ekaterina Bogdanova, Wenjie Chen, Daniel Lupu, Joshua Suhl, Qiandong Zeng, Ute Geigenmüller, Debbie Boles, Patricia M Okamoto, Geraldine McDowell, Melissa A Hayden, Narasimhan Nagan
Background: Extensive clinical and genetic heterogeneity of inherited cancers has allowed multi-gene panel testing to become an efficient means for identification of patients with an inherited predisposition to a broad spectrum of syndromic and nonsyndromic forms of cancer. This study reports our experience with a 27-gene inherited cancer panel on a cohort of 630 consecutive individuals referred for testing at our laboratory with the following objectives: 1. Determine the rates for positive cases and those with variants of uncertain clinical significance (VUS) relative to data published in the recent literature, 2...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29242745/the-liver-and-chilaiditi-s-syndrome-significance-of-hepatic-surface-grooves
#15
Shamir O Cawich, Richard Spence, Fawwaz Mohammed, Michael T Gardner, Alex Sinanan, Vijay Naraynsingh
Chilaiditi's syndrome describes a symptomatic patient with radiographic findings of interposed colon between the diaphragm and right lobe of liver. It may mimic a pneumoperitoneum on plain radiographs. We present a case in which Chilaiditis' syndrome was entertained, delaying a decision for laparotomy. This case reinforces the diagnostic difficulty associated with Chilaiditi's syndrome, and it increases awareness of an uncommon variation in the liver surface anatomy.
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/29204414/gardner-diamond-syndrome-a-psychogenic-purpura
#16
K Vivekanandh, Gaurav Dash, Prasenjeet Mohanty
No abstract text is available yet for this article.
November 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/29200142/burnout-rates-in-pediatric-emergency-medicine-physicians
#17
Jasmine Patterson, Alison Gardner
OBJECTIVE: Burnout is a syndrome in which a reduced sense of personal accomplishment, depersonalization, and emotional exhaustion develop in response to prolonged stress. It is well known that physicians suffer high rates of burnout; emergency medicine physicians experience significantly increased rates of burnout, whereas physicians in other specialties, like pediatrics, may be spared. Pediatric emergency medicine physicians are on the frontline of care for the critically ill child, which could put them at high risk for burnout...
December 1, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28967191/missense-variants-in-the-x-linked-gene-prps1-cause-retinal-degeneration-in-females
#18
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 phosphoribosyl pyrophosphate synthetase 1 (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 nonsyndromic sensorineural deafness...
January 2018: Human Mutation
https://www.readbyqxmd.com/read/28937429/spectrum-of-hybrid-cysts-and-their-clinical-significance
#19
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
#20
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...
January 2018: Journal of Cellular and Molecular Medicine
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