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Paget disease

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https://www.readbyqxmd.com/read/29145829/effect-of-a-rare-genetic-variant-of-tm7sf4-gene-on-osteoclasts-of-patients-with-paget-s-disease-of-bone
#1
Emilie Laurier, Nathalie Amiable, Edith Gagnon, Jacques P Brown, Laëtitia Michou
BACKGROUND: Dendritic Cell-Specific Transmembrane Protein (DC-STAMP) is involved in osteoclastogenesis with a key role in mononucleated osteoclasts fusion. We reported in patients with Paget's disease of bone (PDB) a rare variant (rs62620995) in the TM7SF4 gene, encoding for DC-STAMP, which changes a highly conserved amino acid, possibly damaging according to in silico predictions. This study aimed at determining the functional effects of this variant on osteoclast phenotype in PDB. METHODS: Fifty ml of peripheral blood were collected in pagetic patients carrier of this variant (n = 4) or not (n = 4) and healthy controls (n = 4)...
November 16, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29139613/nipple-sparing-mastectomy-as-treatment-for-patients-with-ductal-carcinoma-in%C3%A2-situ-a-10-year-follow-up-study
#2
Víctor Lago, Vincenzo Maisto, Julia Gimenez-Climent, Jose Vila, Carlos Vazquez, Rafael Estevan
The objective was to determine the 10-year oncological safety of nipple-sparing mastectomy (NSM) in patients diagnosed with ductal carcinoma in situ (DCIS). The use of NSM preserves the nipple-areola complex (NAC). As residual fibroglandular breast tissue can remain behind the spared NAC, its use for patient with breast cancer is controversial. The oncologic outcomes and complication rates after performing NSM compared to other techniques are still under debate and a concern when treating patients with breast cancer...
November 15, 2017: Breast Journal
https://www.readbyqxmd.com/read/29131108/genetic-and-pathological-assessment-of-hnrnpa1-hnrnpa2-b1-and-hnrnpa3-in-familial-and-sporadic-amyotrophic-lateral-sclerosis
#3
Jennifer A Fifita, Katharine Y Zhang, Jasmin Galper, Kelly L Williams, Emily P McCann, Alison L Hogan, Neil Saunders, Denis Bauer, Ingrid S Tarr, Roger Pamphlett, Garth A Nicholson, Dominic Rowe, Shu Yang, Ian P Blair
BACKGROUND: Mutations in the genes encoding the heterogeneous nuclear ribonucleoproteins hnRNPA1 and hnRNPA2/B1 have been reported in a multisystem proteinopathy that includes amyotrophic lateral sclerosis (ALS) and inclusion body myopathy associated with Paget disease of the bone and frontotemporal dementia. Mutations were also described in the prion-like domain of hnRNPA1 in patients with classic ALS. Another hnRNP protein, hnRNPA3, has been found to be associated with the ALS/frontotemporal dementia protein C9orf72...
November 11, 2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/29128267/clinical-relevance-of-alternative-endpoints-in-colorectal-cancer-first-line-therapy-with-bevacizumab-a-retrospective-study
#4
Anthony Turpin, Sophie Paget-Bailly, Anne Ploquin, Antoine Hollebecque, Charlotte Peugniez, Farid El-Hajbi, Franck Bonnetain, Mohamed Hebbar
BACKGROUND: We studied the relationship between intermediate criteria and overall survival (OS) in metastatic colorectal cancer (mCRC) patients who received first-line chemotherapy with bevacizumab. PATIENTS AND METHODS: We assessed OS, progression-free survival (PFS), duration of disease control (DDC), the sum of the periods in which the disease did not progress, and the time to failure of strategy (TFS), which was defined as the entire period before the introduction of a second-line treatment...
October 19, 2017: Clinical Colorectal Cancer
https://www.readbyqxmd.com/read/29127544/a-brazilian-family-with-inclusion-body-myopathy-associated-with-paget-s-disease-of-bone-and-frontotemporal-dementia-linked-to-the-vcp-pgly97glu-mutation
#5
REVIEW
Samuel Katsuyuki Shinjo, Sueli Mieko Oba-Shinjo, Antonio Marcondes Lerario, Suely Kazue Nagahashi Marie
The objective of this study is to report a Brazilian patient and his family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia (IBMPFD). A systematic review of the literature on the valosin-containing protein (VCP) mutation was also performed. The proband (patient) was initially treated as a case of possible refractory polymyositis with Paget's disease and later as an inclusion body myopathy. However, after admission to our service, and considering his personal and familial antecedents, whole exome sequencing was performed revealing valosin-containing protein (VCP) c...
November 10, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/29115681/imiquimod-5-cream-as-a-therapeutic-option-for-extramammary-paget-s-disease
#6
Masahide Sawada, Junji Kato, Toshiharu Yamashita, Akihiro Yoneta, Tokimasa Hida, Kohei Horimoto, Sayuri Sato, Hisashi Uhara
A wide local excision is the standard treatment for extramammary Paget's disease (EMPD), though this treatment often leads to permanent anogenital mutilation and functional impairment. The purpose of our study is to evaluate the efficacy and safety of the topical application of imiquimod 5% cream for non-invasive EMPD. We examined nine patients with EMPD. Eight of the nine patients were treated with imiquimod 5% cream three times per week for 16 weeks; one case was treated for 6 weeks. The response rate was 100% including five complete remissions...
November 8, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/29113769/advanced-scrotal-extramammary-paget-s-disease-treated-with-apatinib-a-case-report
#7
Yun-Ni Zhang, Ye Chen, Feng Gao, Ni Chen, Ji-Yan Liu
No abstract text is available yet for this article.
October 16, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/29111454/the-application-of-reward-learning-in-the-real-world-changes-in-the-reward-positivity-amplitude-reflect-learning-in-a-medical-education-context
#8
Chad C Williams, Kent G Hecker, Michael K Paget, Sylvain P Coderre, Kelly W Burak, Bruce Wright, Olave E Krigolson
Evidence ranging from behavioural adaptations to neurocognitive theories has made significant advances into our understanding of feedback-based learning. For instance, over the past twenty years research using electroencephalography has demonstrated that the amplitude of a component of the human event-related brain potential - the reward positivity - appears to change with learning in a manner predicted by reinforcement learning theory (Holroyd and Coles, 2002; Sutton and Barto, 1998). However, while the reward positivity (also known as the feedback related negativity) is well studied, whether the component reflects an underlying learning process or whether it is simply sensitive to feedback evaluation is still unclear...
October 27, 2017: International Journal of Psychophysiology
https://www.readbyqxmd.com/read/29109950/paget-s-breast-disease-a-case-report-and-review-of-the-literature
#9
S Dubar, M Boukrid, Jean Bouquet de Joliniere, L Guillou, Quoc Duy Vo, A Major, N Ben Ali, F Khomsi, A Feki
Paget's disease of the breast is a rare cancer. This typical clinical case illustrates the different epidemiological, clinical, histological, therapeutic, and evolving aspects of the disease. We report a case of Paget's disease in a 43-year-old woman who presented eczema of the nipple. Mammography and ultrasounds did reveal a lesion in situ. The patient was scheduled for mastectomy and sentinel node biopsy. She had chosen a radical bilateral surgery. The histological diagnosis was Paget's disease of the breast with a carcinoma in situ...
2017: Frontiers in Surgery
https://www.readbyqxmd.com/read/29098360/established-models-and-new-paradigms-for-hypoxia-driven-cancer-associated-bone-disease
#10
REVIEW
Thomas R Cox, Janine T Erler, Robin M H Rumney
The five-year survival rate for primary bone cancers is ~ 70% while almost all cases of secondary metastatic bone cancer are terminal. Hypoxia, the deficiency of oxygen which occurs as the rate of tumour growth exceeds the supply of vascularisation, is a key promoter of tumour progression. Hypoxia-driven effects in the primary tumour are wide ranging including changes in gene expression, dysregulation of signalling pathways, resistance to chemotherapy, neovascularisation, increased tumour cell proliferation and migration...
November 2, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/29082243/mammary-and-extramammary-paget-s-disease-presented-different-expression-pattern-of-steroid-hormone-receptors
#11
Songxia Zhou, Weixiang Zhong, Ruiqin Mai, Guohong Zhang
BACKGROUND AND OBJECTIVES: Paget's disease (PD) is a rare intraepithelial adenocarcinoma, which is composed of mammary (MPD) and extramammary Paget's disease (EMPD). Currently, the published literature contains scant data on expression pattern of steroid hormone receptors in MPD and EMPD. METHODS: Expression of estrogen receptor (ER) and androgen receptor (AR) was evaluated in 88 MPD and 72 EMPD by using immunohistochemical staining and H-score method. RESULTS: Positive expression of AR was significantly higher in EMPD (61...
2017: BioMed Research International
https://www.readbyqxmd.com/read/29081061/zoledronic-acid-bevacizumab-and-dexamethasone-induced-apoptosis-mitochondrial-oxidative-stress-and-calcium-signaling-are-decreased-in-human-osteoblast-like-cell-line-by-selenium-treatment
#12
Tayfun Yazıcı, Gülperi Koçer, Mustafa Nazıroğlu, İshak Suat Övey, Ahmi Öz
Increased intracellular free calcium ion (Ca(2+)) concentration induces excessive oxidative stress and apoptosis. Medical procedures such as zoledronic acid (Zol), bevacizumab (Bev), and dexamethasone (Dex) are usually used in the treatment of bone diseases (osteoporosis, Paget's disease, etc.) and to prevent metastasis in the bone although the procedures induce osteonecrosis of the jaw through excessive production of reactive oxygen species (ROS). Recently, we observed regulator roles of selenium (Se) on apoptosis and Ca(2+) entry through transient receptor potential vanilloid 1 (TRPV1) channels in the cancer cell lines...
October 28, 2017: Biological Trace Element Research
https://www.readbyqxmd.com/read/29080812/juvenile-paget-disease
#13
Stergios A Polyzos, Tim Cundy, Christos S Mantzoros
Juvenile Paget disease (JPD) is a rare disorder, mainly caused by mutations in the gene TNFRSF11B that encodes osteoprotegerin (OPG). Loss of OPG action causes generalized, extremely rapid bone turnover. The clinical manifestations are both skeletal - progressive skeletal deformity that develops in childhood - and extra-skeletal, including hearing loss, retinopathy, vascular calcification and internal carotid artery aneurysm formation. The severity of the phenotype seems to be related to the severity of TNFRSF11B gene deactivation...
October 25, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29079166/benefits-of-urologic-dermatologic-consultations-for-the-diagnosis-of-cutaneous-penile-lesions-a%C3%A2-prospective-study
#14
Edouard Fortier, Arnaud Cerruti, Christian Le Clec'h, Abdel-Rahmène Azzouzi, Pierre Bigot
INTRODUCTION: We evaluated the benefits of a specialized consultation created in 2014 for cutaneous penile lesions. MATERIALS AND METHODS: We performed a descriptive prospective study evaluating all patients sent for a monthly urologic-dermatologic consultation at a French university hospital from September 2014 to September 2015 for cutaneous penile lesions. All patients evaluated were included. We collected the demographic data, clinical examination findings, and the proposed diagnosis and treatment for every patient...
October 5, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/29054795/topical-ala-pdt-as-alternative-therapeutic-option-in-treatment-recalcitrant-dermatosis-report-of-4-cases
#15
REVIEW
Calvina Theresia, Jie Zheng, Xiao-Ying Chen
BACKGROUND: Topical Photodynamic therapy (PDT) is widely acknowledged for its safety and effectiveness in treating oncologic skin diseases such as basal cell carcinoma, actinic keratosis and squamous cell carcinoma in situ. Despite its broad applications in dermatology, this method is a relatively new therapeutic option for treating inflammatory/infectious skin diseases. OBJECTIVES: To determine whether topical PDT is a safe and effective treatment option in treating treatment-recalcitrant dermatosis...
October 17, 2017: Photodiagnosis and Photodynamic Therapy
https://www.readbyqxmd.com/read/29037990/roles-for-the-vcp-co-factors-npl4-and-ufd1-in-neuronal-function-in-drosophila-melanogaster
#16
Dwayne J Byrne, Mark J Harmon, Jeremy C Simpson, Craig Blackstone, Niamh C O'Sullivan
The VCP-Ufd1-Npl4 complex regulates proteasomal processing within cells by delivering ubiquitinated proteins to the proteasome for degradation. Mutations in VCP are associated with two neurodegenerative diseases, amyotrophic lateral sclerosis (ALS) and inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia (IBMPFD), and extensive study has revealed crucial functions of VCP within neurons. By contrast, little is known about the functions of Npl4 or Ufd1 in vivo. Using neuronal-specific knockdown of Npl4 or Ufd1 in Drosophila melanogaster, we infer that Npl4 contributes to microtubule organization within developing motor neurons...
October 20, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/29033402/5-aminolevulinic-acid-5-ala-fluorescence-guided-mohs-surgery-resection-of-penile-scrotal-extramammary-paget-s-disease
#17
Xiaoqiong Peng, Wei Qian, Jiangang Hou
This report aims to evaluate the usefulness of 5-aminolevulinic acid (5-ALA) fluorescence-guided Mohs surgery resection of penile-scrotal extramammary Paget's disease for achieving maximum tumor resection. Between January 2014 and December 2015, 5 patients underwent surgical resection of a penile-scrotal extramammary Paget's disease in department of urology, Huashan hospital, Fudan University. All patients were coated with 5-ALA (concentration of 20%) throughout the scrotum and the visible range of the lesion plus a 2cm margin 3 hours before the induction of anesthesia...
October 16, 2017: Bioscience Trends
https://www.readbyqxmd.com/read/28993189/effect-of-genetic-variants-of-optn-in-the-pathophysiology-of-paget-s-disease-of-bone
#18
Iris A L Silva, Natércia Conceição, Édith Gagnon, Helena Caiado, Jacques P Brown, Fernando Gianfrancesco, Laëtitia Michou, M Leonor Cancela
Paget's disease of bone (PDB) is the second most frequent metabolic bone disease after osteoporosis. Genetic factors play an important role in PDB, but to date PDB causing mutations were identified only in the Sequestosome 1 gene at the PDB3 locus. OPTN has been recently associated with PDB, however little is known about the effect of genetic variants in this gene in PDB pathophysiology. By sequencing OPTN in SQSTM1 non-carriers PDB patients we found 16 SNPs in regulatory, coding and non-coding regions. One of those was found to be associated with PDB in our cohort - rs2234968...
October 6, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28992669/-a-case-of-secondary-extramammary-paget-s-disease-aroundthe-cutaneous-stoma-after-radical-cystectomy
#19
Sohei Kanda, Kazutoshi Okubo, Takuya Hida, Jin Kono, Takeshi Takahashi, Kenji Mitsumori, Toshihide Shimada, Kazuo Nishimura
We present a case of secondary extramammary Paget's disease around the cutaneous ureterostomy stoma after radical cystectomy. An 85-year-old man with bacillus calmette-guérin refractory high-grade urothelial carcinoma underwent radical cystectomy and cutaneous ureterostomy construction. After right ureter cancer diagnosis, he underwent right nephroureterectomy 3 years after the cystectomy. He developed refractory dermatitis around the cutaneous stoma 1 year after the nephroureterectomy. Skin biopsy revealed secondary extramammary Paget's disease, cured by skin excision around the cutaneous stoma and skin grafting...
September 2017: Hinyokika Kiyo. Acta Urologica Japonica
https://www.readbyqxmd.com/read/28976448/invasive-paget-disease-of-the-vulva
#20
Chiara Borghi, Giorgio Bogani, Antonino Ditto, Fabio Martinelli, Mauro Signorelli, Valentina Chiappa, Cono Scaffa, Stefania Perotto, Umberto Leone Roberti Maggiore, Dario Recalcati, Domenica Lorusso, Francesco Raspagliesi
OBJECTIVE: Extramammary Paget disease of the vulva (EPDV) is a rare occurrence with an indolent and relapsing course. Progression to invasion occurs in 4% to 19% of cases. The aim of this study is to report clinical-pathological features and outcomes of patients treated for invasive EPDV. METHODS: Data of consecutive patients treated between 2000 and 2017 for invasive EPDV were reviewed. RESULTS: Among 79 patients with EPDV, 10 (12.7%) presented a microinvasive or invasive form at first diagnosis or during follow-up...
October 3, 2017: International Journal of Gynecological Cancer
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