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Gardner's syndrome

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https://www.readbyqxmd.com/read/28421271/-hereditary-bone-tumors
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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, Emma Gardner, 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
#11
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
#12
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
https://www.readbyqxmd.com/read/28238455/androgen-dependent-mechanisms-of-pro-angiogenic-networks-in-placental-and-tumor-development
#13
Veronika M Metzler, Simone de Brot, Robert S Robinson, Jennie N Jeyapalan, Emad Rakha, Thomas Walton, David S Gardner, Emma F Lund, Jonathan Whitchurch, Daisy Haigh, Jack M Lochray, Brian D Robinson, Cinzia Allegrucci, Rupert G Fray, Jenny L Persson, Niels Ødum, Regina R Miftakhova, Albert A Rizvanov, Ieuan A Hughes, Rieko Tadokoro-Cuccaro, David M Heery, Catrin S Rutland, Nigel P Mongan
The placenta and tumors share important characteristics, including a requirement to establish effective angiogenesis. In the case of the placenta, optimal angiogenesis is required to sustain the blood flow required to maintain a successful pregnancy, whereas in tumors establishing new blood supplies is considered a key step in supporting metastases. Therefore the development of novel angiogenesis inhibitors has been an area of active research in oncology. A subset of the molecular processes regulating angiogenesis are well understood in the context of both early placentation and tumorigenesis...
February 20, 2017: Placenta
https://www.readbyqxmd.com/read/28133149/-a-case-of-mesenteric-fibromatosis-after-robot-assisted-total-gastrectomy-for-gastric-cancer
#14
Makoto Nakai, Toshiyuki Tazawa, Naoki Wajima, Takahiro Muroya, Katsuya Mikami, Kenichi Hakamada
The patient underwent robot-assisted total gastrectomy for an early gastric cancer. Thirty-four months later, he was admitted to another hospital because of abdominal discomfort. Computed tomography scans showed a giant solid mass approximately 13 cm in diameter in the lower abdomen. We performed a resection of the tumor; operative findings showed a giant solid tumor, without adhesion, in the mesentery of the jejunum. The tumor did not involve other parts of the small intestine. The resected tumor had a smooth surface with an elastic hard consistency...
November 2016: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28128697/gamma-knife-radiosurgery-for-treatment-of-growing-vestibular-schwannomas-in-patients-with-neurofibromatosis-type-2-a-matched-cohort-study-with-sporadic-vestibular-schwannomas
#15
Ivo J Kruyt, Jeroen B Verheul, Patrick E J Hanssens, Henricus P M Kunst
OBJECTIVE Neurofibromatosis Type 2 (NF2) is a tumor syndrome characterized by an autosomal dominant pattern of inheritance. The hallmark of NF2 is the development of bilateral vestibular schwannomas (VSs), generally by 30 years of age. One of the first-line treatment options for small to medium-large VSs is radiosurgery. Although radiosurgery shows excellent results in sporadic VS, its use in NF2-related VS is still a topic of dispute. The aim of this study was to evaluate long-term tumor control, hearing preservation rates, and factors influencing outcome of optimally dosed, contemporary Gamma Knife radiosurgery (GKRS) for growing VSs in patients with NF2 and compare the findings to data obtained in patients with sporadic VS also treated by means of GKRS...
January 27, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28115629/a-novel-role-for-transcription-coupled-nucleotide-excision-repair-for-the-in-vivo-repair-of-3-n4-ethenocytosine
#16
Isaac A Chaim, Alycia Gardner, Jie Wu, Teruaki Iyama, David M Wilson, Leona D Samson
Etheno (ε) DNA base adducts are highly mutagenic lesions produced endogenously via reactions with lipid peroxidation (LPO) products. Cancer-promoting conditions, such as inflammation, can induce persistent oxidative stress and increased LPO, resulting in the accumulation of ε-adducts in different tissues. Using a recently described fluorescence multiplexed host cell reactivation assay, we show that a plasmid reporter bearing a site-specific 3,N4-ethenocytosine (εC) causes transcriptional blockage. Notably, this blockage is exacerbated in Cockayne Syndrome and xeroderma pigmentosum patient-derived lymphoblastoid and fibroblast cells...
April 7, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28111622/cruciate-paralysis-in-a-20-year-old-male-with-an-undisplaced-type-iii-odontoid-fracture
#17
Mansukhani Sameer A, Tuteja Sanesh V, Dhar Sanjay B
INTRODUCTION: Cruciate Paralysis is a rare incomplete spinal cord syndrome presenting as brachial diplegia with minimal or no involvement of the lower extremities. It occurs as a result of trauma to the cervical spine and is associated with fractures of the axis and/or atlas. Diagnosis is confirmed on MRI and is managed by treatment of the underlying pathology. Prognosis depends on the extent of spinal cord injury and the exact cause. CASE PRESENTATION: A 20-year-old male presented to the casualty with a history of an injury to the back of the head as a result of a fall...
April 2016: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28110467/an-overview-of-autosomal-dominant-tumour-syndromes-with-prominent-features-in-the-oral-and-maxillofacial-region
#18
REVIEW
Robert A Kennedy, Selvam Thavaraj, Salvador Diaz-Cano
Several autosomal dominant inherited tumour syndromes demonstrate prominent features in the oral and maxillofacial region. Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and hyperparathyroidism-jaw tumour syndrome)...
January 21, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28093222/swainsonine-induced-lysosomal-storage-disease-in-goats-caused-by-the-ingestion-of-sida-rodrigoi-monteiro-in-north-western-argentina
#19
Juan Francisco Micheloud, Raúl Marin, Luis Adrián Colque-Caro, Olga Gladys Martínez, Dale Gardner, Eduardo Juan Gimeno
There are numerous poisonous plants that can induce intralysosomal accumulation of glycoproteins and neurologic syndromes. Here we describe for the first time, a disease caused by ingesting Sida rodrigoi Monteiro in goats in North-western Argentina. The animals showed weight loss, indifference to the environment, unsteady gait and ataxia. Histopathologic studies showed vacuolization in cells of various organs, mainly in the CNS. The material deposited in the cells was positive for LCA (Lens culinaris agglutinin), WGA (Triticum vulgaris agglutinin), sWGA (succinyl-Triticum vulgaris agglutinin) and Con-A (Concanavalia ensiformis agglutinin) lectins...
January 16, 2017: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/28035305/gardner-syndrome-associated-with-multiple-osteomas-intestinal-polyposis-and-epidermoid-cysts
#20
Kwang-Joon Koh, Ha-Na Park, Kyoung-A Kim
Gardner syndrome is known as a variant of familial adenomatous polyposis. This syndrome is characterized by multiple intestinal polyposes, osteomas, and epidermoid cysts. In addition, dental abnormalities include an increased frequency of multiple odontomas, as well as supernumerary and impacted teeth. The authors report the case of a 7-year-old male patient with Gardner syndrome. Radiographic findings revealed multiple osteomas in both sides of the maxilla, multiple diffuse enostoses in both jaws, and a complex odontoma in the left mandibular body...
December 2016: Imaging Science in Dentistry
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