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M van der Linden, M S Schuurman, J Bulten, L F A G Massuger, J IntHout, M A van der Aa, J A de Hullu
BACKGROUND: Vulvar Paget disease (VPD) is extremely rare and thought to be associated with other malignancies. OBJECTIVE: The aim of this study was to evaluate the risk of developing breast, intestinal, and urological malignancies in patients with VPD compared with the general population, and in particular focus on the risk of malignancy in patients with cutaneous non-invasive VPD. METHODS: Data on the oncologic history of patients with any type of VPD between 2000 and 2015 were obtained from PALGA, a nationwide archive containing all pathology reports in the Netherlands...
June 19, 2018: British Journal of Dermatology
M C Vlot, M den Heijer, R T de Jongh, M G Vervloet, W F Lems, R de Jonge, B Obermayer-Pietsch, A C Heijboer
Measurements of bone markers (BMs) in peripheral blood or urine are a pivotal part of bone research within modern clinical medicine. In recent years the use of BMs increased substantially as they can be useful either to diagnose bone (related) disease and to follow its natural history, but also to monitor the effects of interventions. However, the use of BMs is still complicated mainly due to (pre)analytical variability of these substances, limited accessibility of assays, variable cut-off values in different countries and laboratories and heterogeneous results with regard to clinical implications of measuring BMs in several studies...
June 16, 2018: Bone
Junichi Hiratsuka, Nobuhiko Kamitani, Ryo Tanaka, Eisaku Yoden, Ryuji Tokiya, Minoru Suzuki, Rolf F Barth, Koji Ono
BACKGROUND: Although the most commonly recommended treatment for melanoma and extramammary Paget's disease (EMPD) of the genital region is wide surgical excision of the lesion, the procedure is highly invasive and can lead to functional and sexual problems. Alternative treatments have been used for local control when wide local excision was not feasible. Here, we describe four patients with genital malignancies who were treated with boron neutron capture therapy (BNCT). METHODS: The four patients included one patient with vulvar melanoma (VM) and three with genital EMPD...
June 19, 2018: Cancer communications
Quentin Jacquinot, Sophie Paget-Bailly, Pierre Fumoleau, Gilles Romieu, Jean Yves Pierga, Marc Espié, Alain Lortholary, Jean Marc Nabholtz, Celine Faure Mercier, Iris Pauporté, Julie Henriques, Xavier Pivot
BACKGROUND: Cardiac toxicity with a decrease of the left ventricular ejection fraction (LVEF) is the main side effect induced by trastuzumab. This study reports the fluctuation of LVEF over the 12 months of adjuvant trastuzumab in PHARE trial (NCT00381901). METHODS: LVEF assessment was performed every 3 months while patients received trastuzumab and after completion of treatment over the first 2 years and then every 6 months afterwards. The fluctuations of LVEF over time were described and a logistic regression model was performed investigating associated factors to LVEF perfect recovery at baseline value...
June 15, 2018: Breast: Official Journal of the European Society of Mastology
Megan N Michalski, Bart O Williams
Alterations in the SQSTM1 gene are a putative cause of Paget's disease of bone, yet results are conflicting about how these mutations impact osteoclasts, the cell type believed to be the main pathological contributor. In this issue of JBC, Zach et al. provide important new evidence that the protein encoded by SQSTM1 , p62, negatively regulates osteoclastogenesis and demonstrate that aged p62-deficient mice develop bone phenotypes similar to those of Paget's disease. These findings help to clarify the role of this important protein and present new opportunities to interrogate bone biology...
June 15, 2018: Journal of Biological Chemistry
Heidi R Wassef, Patrick M Colletti
Nuclear medicine studies evaluate physiology on a molecular level providing earlier detection of lesions before morphologic change is evident. 99m Tc-MDP and 18 F-fluoride bone scans detect osteomyelitis earlier than radiographs and computed tomography (CT); aid in diagnosis of temporomandibular joint disorder; and evaluate activity of condylar hyperplasia, extent of Paget disease, and viability of bone grafts. 18 F-FDG PET/CT distinguish between soft tissue and bone infections and diagnose osteomyelitis complicated by fracture or surgery...
July 2018: Dental Clinics of North America
Michio Inoue, Aritoshi Iida, Shinichiro Hayashi, Madoka Mori-Yoshimura, Atsushi Nagaoka, Shunsuke Yoshimura, Hirokazu Shiraishi, Akira Tsujino, Yuji Takahashi, Ikuya Nonaka, Yukiko K Hayashi, Satoru Noguchi, Ichizo Nishino
VCP mutations were first associated with inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) but was later associated with amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease. Now, a new name, "multisystem proteinopathy (MSP)", is proposed for this condition. VCP encodes valosin-containing protein, which is involved in protein degradation in the ubiquitin proteasome system. We report here two MSP patients with two novel heterozygous missense variants in VCP : c...
2018: Human Genome Variation
Katrin Kiavash, Steve Kim, Andrew D Thompson
Extramammary Paget disease (EMPD) is a rare intraepithelial carcinoma and an uncommon variant of Paget disease affecting areas of the apocrine-rich skin of the perineum, vulva, and less commonly, axilla. Women in their sixth to eighth decades are commonly affected. It is exceedingly rare for EMPD to present on the face, chest, abdomen, or other nonapocrine sites and even more unusual for EMPD to present as a pigmented lesion. The relationship between Paget cells in pigmented extramammary Paget disease (PEMPD) and reactive proliferation and colonization by melanocytes has been poorly explored...
June 7, 2018: American Journal of Dermatopathology
Saverio Caini, Peter Spreeuwenberg, Gabriela F Kusznierz, Juan Manuel Rudi, Rhonda Owen, Kate Pennington, Sonam Wangchuk, Sonam Gyeltshen, Walquiria Aparecida Ferreira de Almeida, Cláudio Maierovitch Pessanha Henriques, Richard Njouom, Marie-Astrid Vernet, Rodrigo A Fasce, Winston Andrade, Hongjie Yu, Luzhao Feng, Juan Yang, Zhibin Peng, Jenny Lara, Alfredo Bruno, Doménica de Mora, Celina de Lozano, Maria Zambon, Richard Pebody, Leticia Castillo, Alexey W Clara, Maria Luisa Matute, Herman Kosasih, Nurhayati, Simona Puzelli, Caterina Rizzo, Herve A Kadjo, Coulibaly Daouda, Lyazzat Kiyanbekova, Akerke Ospanova, Joshua A Mott, Gideon O Emukule, Jean-Michel Heraud, Norosoa Harline Razanajatovo, Amal Barakat, Fatima El Falaki, Sue Q Huang, Liza Lopez, Angel Balmaseda, Brechla Moreno, Ana Paula Rodrigues, Raquel Guiomar, Li Wei Ang, Vernon Jian Ming Lee, Marietjie Venter, Cheryl Cohen, Selim Badur, Meral A Ciblak, Alla Mironenko, Olha Holubka, Joseph Bresee, Lynnette Brammer, Phuong Vu Mai Hoang, Mai Thi Quynh Le, Douglas Fleming, Clotilde El-Guerche Séblain, François Schellevis, John Paget
BACKGROUND: Influenza disease burden varies by age and this has important public health implications. We compared the proportional distribution of different influenza virus types within age strata using surveillance data from twenty-nine countries during 1999-2014 (N=358,796 influenza cases). METHODS: For each virus, we calculated a Relative Illness Ratio (defined as the ratio of the percentage of cases in an age group to the percentage of the country population in the same age group) for young children (0-4 years), older children (5-17 years), young adults (18-39 years), older adults (40-64 years), and the elderly (65+ years)...
June 8, 2018: BMC Infectious Diseases
Jarrad M Stevens, Hannah Flower, Donald Salter, James T Patton
Paget's sarcomatous transformation is a rare and potentially fatal complication of Paget's disease. Histologically, it is typically described as a high-grade and extremely aggressive malignancy. We present an unusual radiographic series from a patient diagnosed with a low-grade Paget's osteosarcoma, a very rare and poorly described variant of the disease.
June 2018: Journal of Orthopaedics
Emilio Amilibia Cabeza, Susana Holgado Pérez, Marta Pérez Grau, Carme Moragues Pastor, Francesc Roca-Ribas Serdà, Miquel Quer Agustí
INTRODUCTION AND OBJECTIVES: Paget's disease of bone (PDB) may lead to hearing loss. The present study was conducted with the aim of measuring, characterizing and determining the risk factors for hearing loss in a group of subjects with PDB. METHODS: An observational, transversal, case-control study was conducted, a cohort of 76 subjects diagnosed with PDB in the case group and a control group of 134 subjects were included. Clinical, demographic and audiometric data were analysed...
June 4, 2018: Acta Otorrinolaringológica Española
Thomas A Ryan, David A Tumbarello
Optineurin is a multifunctional adaptor protein intimately involved in various vesicular trafficking pathways. Through interactions with an array of proteins, such as myosin VI, huntingtin, Rab8, and Tank-binding kinase 1, as well as via its oligomerisation, optineurin has the ability to act as an adaptor, scaffold, or signal regulator to coordinate many cellular processes associated with the trafficking of membrane-delivered cargo. Due to its diverse interactions and its distinct functions, optineurin is an essential component in a number of homeostatic pathways, such as protein trafficking and organelle maintenance...
2018: Frontiers in Immunology
Youenn Jouan, Emmanuel C Patin, Maya Hassane, Mustapha Si-Tahar, Thomas Baranek, Christophe Paget
γδT cells comprise a unique T cell sublineage endowed with a wide functional repertoire, which allow them to play important-sometimes opposite-roles in many immune responses associated with infection, cancer, and inflammatory processes. This is largely dependent on the existence of pre-programmed discrete functional subsets that differentiate within the thymus at specific temporal windows of life. Since they represent a major early source of interleukin-17A in many models of immune responses, the γδT17 cell population has recently gained considerable interest...
2018: Frontiers in Immunology
Elisa Borsani, Veronica Bonazza, Barbara Buffoli, Pier Francesco Nocini, Massimo Albanese, Francesca Zotti, Francesco Inchingolo, Rita Rezzani, Luigi F Rodella
Bisphosphonates are primary pharmacological agents against osteoclast-mediated bone loss and widely used in the clinical practice for prevention and treatment of a variety of skeletal conditions, such as low bone density and osteogenesis imperfecta, and pathologies, such as osteoporosis, malignancies metastatic to bone, Paget disease of bone, multiple myeloma, and hypercalcemia of malignancy. However, long-term bisphosphonate treatment is associated with pathologic conditions including osteonecrosis of the jaw, named BRONJ, which impaired bone regeneration process...
2018: BioMed Research International
Jennifer A Foley, Elaine H Niven, Andrew Paget, Kailash P Bhatia, Simon F Farmer, Paul R Jarman, Patricia Limousin, Thomas T Warner, Huw R Morris, Thomas H Bak, Sharon Abrahams, Lisa Cipolotti
Disentangling Parkinson's disease (PD) and progressive supranuclear palsy (PSP) may be a diagnostic challenge. Cognitive signs may be useful, but existing screens are often insufficiently sensitive or unsuitable for assessing people with motor disorders. We investigated whether the newly developed ECAS, designed to be used with people with even severe motor disability, was sensitive to the cognitive impairment seen in PD and PSP and able to distinguish between these two disorders. Thirty patients with PD, 11 patients with PSP, and 40 healthy controls were assessed using the ECAS, as well as an extensive neuropsychological assessment...
2018: Parkinson's Disease
Saverio Caini, Madelon Kroneman, Therese Wiegers, Clotilde El Guerche-Séblain, John Paget
AIM: Studies carried out in the early 2000s found that the number of influenza-associated hospitalizations and deaths was highest in seasons dominated by A(H3N2), suggesting that the clinical presentation and severity of influenza may differ across virus types, subtypes and lineages. We aimed to review the studies that examined this hypothesis. METHOD: We conducted a literature review of studies published until January 2017 that compared the clinical presentation, disease severity, and case-fatality ratio of influenza patients infected with different virus types (A, B), subtypes (pre-pandemic A(H1N1), A(H1N1)p, A(H3N2)) and lineages (Victoria, Yamagata)...
June 2, 2018: Influenza and Other Respiratory Viruses
Alay Mansurov, Eric Christenson
A 47-year-old male presented with a groin lesion in 2011. Initial treatment with antifungals and vinegar was unsuccessful. In 2016, biopsy of this lesion was pursued with diagnosis of extramammary Paget's disease (EMPD). Prior to the scheduled excision, he developed constant lower back pain with radiation to his lower extremities. MRI confirmed vertebral metastasis. Despite surgical and radiation therapy, his back pain progressed, and repeat imaging showed epidural spread of tumor in the thoracic spine. Later, the patient was admitted to the hospital due to severe anemia and thrombocytopenia...
2018: Case Reports in Hematology
Adam R Schmitt, Beverly J Long, Amy L Weaver, Michaela E McGree, Jamie N Bakkum-Gamez, Jerry D Brewer, William A Cliby
OBJECTIVES: To identify the rates of associated and occult cancers in patients with extramammary Paget disease (EMPD) discovered using cancer screening methods at a tertiary medical center; to propose evidence-based cancer screening guidelines at the time of diagnosis of EMPD; and to clarify terminology associating EMPD with underlying malignancies. PATIENTS AND METHODS: A retrospective review of patients with histologically confirmed EMPD presenting for care at our institution between January 1, 1992, and December 31, 2015, was performed...
May 24, 2018: Mayo Clinic Proceedings
L Yang, B R Fang, J Y He, X C Wang
Objective: To explore the establishment and application of three-dimensional model of deep inferior epigastric artery perforator flap based on computed tomography angiography (CTA). Methods: Six patients with breast absence after modified radical mastectomy because of breast cancer, 5 patients with congenital absence of vagina, and 6 patients with Paget's disease of penis and scrotum were hospitalized in our unit from January 2012 to April 2017. The size of wounds after excision of the lesion or that of flaps needed for reconstruction ranged from 17 cm×5 cm to 25 cm×9 cm...
May 20, 2018: Zhonghua Shao Shang za Zhi, Zhonghua Shaoshang Zazhi, Chinese Journal of Burns
Hiroaki Fuji, Saori Ohmae, Naruto Noma, Masatoshi Takeiri, Hideto Yasutomi, Kazuya Izumi, Moe Ito, Masayasu Toyomoto, Soichiro Iwaki, Kenji Takemoto, Satoru Seo, Kojiro Taura, Shigeaki Hida, Mineyoshi Aoyama, Yasushi Ishihama, Masatoshi Hagiwara, Norihiko Takeda, Etsuro Hatano, Keiko Iwaisako, Shinji Uemoto, Masataka Asagiri
Osteoclasts play a crucial role in osteolytic bone diseases, such as osteoporosis, rheumatoid arthritis, periodontitis, Paget's disease of bone and bone metastatic tumors. Therefore, controlling osteoclast differentiation and function has been considered a promising therapeutic strategy. Here, we show that necrostatin (Nec)-7, an inhibitor of programmed necrosis, strongly suppressed receptor activator of nuclear factor (NF)-κB ligand (RANKL)-induced osteoclastogenesis and bone resorption, without compromising macrophage colony-stimulating factor (M-CSF)-supported survival and growth of osteoclast precursor cells...
May 22, 2018: Biochemical and Biophysical Research Communications
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