8,002 results match your criteria Paget Disease


Long term outcome following non- surgical management of Paget- Schroetter syndrome.

J Vasc Surg Venous Lymphat Disord 2020 May 20. Epub 2020 May 20.

department of vascular surgery, The Chaim Sheba Medical Center, Tel Hashomer, The Sackler school of medicine, Tel Aviv, Israel.

Objective: Paget- Schroetter syndrome (PSS) is an uncommon disease, with potentially debilitating long term effects. The optimal therapy of PSS is unclear and the role of surgical decompression of the thoracic outlet is still being questioned. In this study we present long term results of patients treated with catheter directed thrombolysis (CDT) and anticoagulation, without undergoing surgical management. Read More

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http://dx.doi.org/10.1016/j.jvsv.2020.04.027DOI Listing

Early Outcomes of Outpatient Management of Kidney Transplant Recipients with Coronavirus Disease 2019.

Clin J Am Soc Nephrol 2020 May 18. Epub 2020 May 18.

Division of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons and New York Presbyterian Hospital, New York, New York.

Background And Objectives: Outcomes of kidney transplant recipients diagnosed with coronavirus disease 2019 as outpatients have not been described.

Design, Setting, Participants, & Measurements: We obtained clinical data for 41 consecutive outpatient kidney transplant recipients with known or suspected coronavirus disease 2019. Chi-squared and Wilcoxon rank sum tests were used to compare characteristics of patients who required hospitalization versus those who did not. Read More

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http://dx.doi.org/10.2215/CJN.05170420DOI Listing

Recurrence of Breast Carcinoma as Paget's Disease of the Skin along the Core Needle Biopsy Tract after Skin-Sparing Mastectomy.

J Breast Cancer 2020 Apr 17;23(2):224-229. Epub 2020 Feb 17.

Department of Surgery, Asan Medical Center, College of Medicine, University of Ulsan, Seoul, Korea.

We report a case of recurrence as Paget's disease at the core needle biopsy (CNB) entry site in a patient with microinvasive ductal carcinoma who underwent nipple-areola-skin sparing mastectomy (NASSM) and autologous reconstruction. Clinically diagnosed recurrences associated with previous needle procedures for malignant breast lesions are rare and usually occur in patients who have not received radiation therapy. The present case involved local recurrence at the skin puncture site of a patient diagnosed based on CNB findings who underwent NASSM without receiving radiation therapy. Read More

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http://dx.doi.org/10.4048/jbc.2020.23.e16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7192744PMC

Paget disease of the breast: A national retrospective analysis of the US population.

Breast Dis 2020 May 6. Epub 2020 May 6.

Division of Plastic Surgery, Mayo Clinic, Jacksonville, FL, USA.

Background: Paget's disease of the breast is rare. The National Cancer Database (NCDB) is one of the largest tumor databases in the United States.

Methods: We queried the NCDB to identify male and female patients with Paget's disease of the breast who were treated from January 1, 2004, through December 31, 2015. Read More

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http://dx.doi.org/10.3233/BD-200439DOI Listing

History of risedronate.

Bone 2020 May 6:115407. Epub 2020 May 6.

Chemistry Department, University of Rochester, Rochester, NY, United States of America; BioVinc, Pasadena, CA, United States of America.

Herein we review the discovery, development, commercial history and legacy of risedronate or NE-58095, a potent N-containing bisphosphonate developed by scientists at the Cincinnati Miami Valley Laboratories and the Norwich Eaton Laboratories of Procter and Gamble. It is characterized by a hydroxyl substituent (R) and a pyridyl-methylene substituent (R) at the carbon bridging two phosphonate moieties. It was shown to have greater potency than alendronate in cell-based systems while binding affinity to bone matrix was lower than alendronate, accounting for the relatively rapid offset of bone turnover inhibition when therapy is discontinued. Read More

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http://dx.doi.org/10.1016/j.bone.2020.115407DOI Listing

ACR Appropriateness Criteria® Thoracic Outlet Syndrome.

J Am Coll Radiol 2020 May;17(5S):S323-S334

Specialty Chair, UMass Memorial Medical Center, Worcester, Massachusetts.

Thoracic outlet syndrome (TOS) is the clinical entity that occurs with compression of the brachial plexus, subclavian artery, and/or subclavian vein at the superior thoracic outlet. Compression of each of these structures results in characteristic symptoms divided into three variants: neurogenic TOS, venous TOS, and arterial TOS, each arising from the specific structure that is compressed. The constellation of symptoms in each patient may vary, and patients may have more than one symptom simultaneously. Read More

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http://dx.doi.org/10.1016/j.jacr.2020.01.029DOI Listing

Monitoring for neovascular age-related macular degeneration (AMD) reactivation at home: the MONARCH study.

Eye (Lond) 2020 May 4. Epub 2020 May 4.

Bristol Trials Centre (CTEU), University of Bristol, Bristol Royal Infirmary, Bristol, BS2 8HW, UK.

Aims: This study aims to quantify the diagnostic test-accuracy of three visual function self-monitoring tests for detection of active disease in patients with neovascular age-related macular degeneration (nAMD) when compared with usual care. An integrated qualitative study will investigate the acceptability of these home-based testing strategies.

Methods: All consenting participants are provided with an equipment pack containing an iPod touch with two vision test applications installed and a paper journal of reading tests. Read More

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http://dx.doi.org/10.1038/s41433-020-0910-4DOI Listing
May 2020
1.897 Impact Factor

Zoledronate.

Bone 2020 Apr 27;137:115390. Epub 2020 Apr 27.

Department of Clinical Medicine, University of Oslo, Oslo, Norway.

Zoledronate is the most potent and most long-acting bisphosphonate in clinical use, and is administered as an intravenous infusion. Its major uses are in osteoporosis, Paget's disease, and in myeloma and cancers to reduce adverse skeletal related events (SREs). In benign disease, it is a first- or second-line treatment for osteoporosis, achieving anti-fracture efficacy comparable to that of the RANKL blocker, denosumab, over 3 years, and it reduces fracture risk in osteopenic older women. Read More

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http://dx.doi.org/10.1016/j.bone.2020.115390DOI Listing

Molecular modelling and dynamic simulations of sequestosome 1 (SQSTM1) missense mutations linked to Paget disease of bone.

J Biomol Struct Dyn 2020 May 13:1-12. Epub 2020 May 13.

Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Saudi Arabia.

The Paget disease (PDB; OMIM is 167250) is a chronic bone disease caused by pathogenic mutations in Sequestome1/p62 (SQSTM1) gene. This study has aimed to interpret the relationship of PDB linked SQSTM1 mutations with protein structure and its molecular dynamic features. The disease causative missense mutations were initially collected, and then analyzed for their, exonic and domain distribution, impact on secondary and tertiary structures, and their ability on protein-ligand interactions, using a combination of systems biology approaches. Read More

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http://dx.doi.org/10.1080/07391102.2020.1758212DOI Listing

The cost of influenza-associated hospitalizations and outpatient visits in Kenya.

BMC Public Health 2019 May 10;19(Suppl 3):471. Epub 2019 May 10.

Centers for Disease Control and Prevention - Kenya Country Office, KEMRI Headquarters, Mbagathi Rd, Off Mbagathi Way, Village Market, P. O Box 606, Nairobi, 00621, Kenya.

Background: We estimated the cost-per-episode and the annual economic burden associated with influenza in Kenya.

Methods: From July 2013-August 2014, we recruited patients with severe acute respiratory illness (SARI) or influenza-like illness (ILI) associated with laboratory-confirmed influenza from 5 health facilities. A structured questionnaire was used to collect direct costs (medications, laboratory investigations, hospital bed fees, hospital management costs, transportation) and indirect costs (productivity losses) associated with an episode of influenza. Read More

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http://dx.doi.org/10.1186/s12889-019-6773-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6696702PMC

Nasal Packs for Epistaxis: Predictors of Success.

Clin Otolaryngol 2020 Apr 19. Epub 2020 Apr 19.

Department of Otolaryngology - Head and Neck Surgery, Southern General Hospital, Glasgow, United Kingdom of Great Britain and Northern Ireland.

Objectives: To investigate factors affecting the haemostatic success of non-dissolvable intranasal packs in the management of acute epistaxis presenting to the Emergency Department (ED).

Design: Prospective cohort study.

Setting: A nationwide prospective audit examining epistaxis management at 113 sites in the UK over a 30-day period. Read More

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http://dx.doi.org/10.1111/coa.13555DOI Listing
April 2020
2.268 Impact Factor

Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor Sp7).

Bone 2020 Apr 13:115364. Epub 2020 Apr 13.

Center For Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children - St. Louis, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:

Juvenile Paget's disease (JPD) became in 1974 the commonly used name for ultra-rare heritable occurrences of rapid bone remodeling throughout of the skeleton that present in infancy or early childhood as fractures and deformity hallmarked biochemically by marked elevation of serum alkaline phosphatase (ALP) activity (hyperphosphatasemia). Untreated, JPD can kill during childhood or young adult life. In 2002, we reported that homozygous deletion of the gene called tumor necrosis factor receptor superfamily, member 11B (TNFRSF11B) encoding osteoprotegerin (OPG) explained JPD in Navajos. Read More

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http://dx.doi.org/10.1016/j.bone.2020.115364DOI Listing

Nonsurgical Treatments for Extramammary Paget Disease: A Systematic Review and Meta-Analysis.

Dermatology 2020 Apr 14:1-7. Epub 2020 Apr 14.

Division of Dermatology, Rabin Medical Center-Beilinson Hospital, Petah Tikva, Israel.

Introduction: Surgery is commonly regarded as the mainstay of treatment of extramammary Paget disease (EMPD); however, nonsurgical approaches have gained popularity in recent years.

Objectives: To review the published evidence for the efficacy and safety of nonsurgical modes of therapy for EMPD.

Methods: A systematic review and meta-analysis of nonsurgical EMPD treatments was performed. Read More

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http://dx.doi.org/10.1159/000506832DOI Listing

Extramammary Paget Disease.

Actas Dermosifiliogr 2020 Apr 9. Epub 2020 Apr 9.

Servicio de Cirugía Plástica, Hospital Universitari de Bellvitge, Barcelona, España.

Background And Objective: Extramammary Paget disease (EMPD) has seldom been studied in Mediterranean populations. We aimed to review the characteristics of our patients with EMPD, the presence of a neoplasm in continuity, and the long-term course of the disease.

Patients And Methods: Retrospective observational study of 27 patients diagnosed with EMPD between 1990 and 2015. Read More

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http://dx.doi.org/10.1016/j.ad.2019.09.003DOI Listing

Cholesteatoma and family history: An international survey.

Clin Otolaryngol 2020 Apr 9. Epub 2020 Apr 9.

Norwich Medical School, University of East Anglia, Norwich, UK.

Objective: To explore the relative frequency of a family history of cholesteatoma in patients with known cholesteatoma, and whether bilateral disease or earlier diagnosis is more likely in those with a family history. Associations between cleft lip or palate and bilateral disease and age of diagnosis were also explored.

Design: An online survey of patients with diagnosed cholesteatoma was conducted between October 2017 and April 2019. Read More

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http://dx.doi.org/10.1111/coa.13544DOI Listing

Frequent -Activating Mutations in Extramammary Paget's Disease.

Cancers (Basel) 2020 Mar 29;12(4). Epub 2020 Mar 29.

Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.

Extramammary Paget's disease (EMPD) is a neoplastic skin disease of indeterminate origin with an unknown genetic cause. We performed a comprehensive genetic analysis or targeted gene sequencing in 48 patients with EMPD. We identified mutations, a fusion gene, and somatic hotspot mutations in the promoter region in 11 of the 48 EMPD patients (11/48, 23%). Read More

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http://dx.doi.org/10.3390/cancers12040820DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7226542PMC

Paget's Disease of Bone Affecting Peripheral Limb: Difficulties in Diagnosis: A Case Report.

J Bone Metab 2020 Feb 29;27(1):71-75. Epub 2020 Feb 29.

Department of Internal Medicine, Seoul Paik Hospital, Inje University College of Medicine, Seoul, Korea.

In terms of management of Paget's disease of bone (PDB), early diagnosis and proper management achieving remission is essential with lifelong specialist follow-up. We present the case of a 40-year-old woman with PDB affecting mainly the distal extremities (ankle and wrist). The patient visited our hospital in 2012 with heel pain. Read More

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http://dx.doi.org/10.11005/jbm.2020.27.1.71DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7064361PMC
February 2020

Characteristics of Early Paget's Disease in SQSTM1 Mutation Carriers: Baseline Analysis of the ZiPP Study Cohort.

J Bone Miner Res 2020 Mar 16. Epub 2020 Mar 16.

Rheumatic Diseases Unit, Western General Hospital, Edinburgh, UK.

Mutations in SQSTM1 are strongly associated with Paget's disease of bone (PDB), but little is known about the clinical characteristics of those with early disease. Radionuclide bone scans, biochemical markers of bone turnover, and clinical characteristics were analyzed in SQSTM1 mutation carriers who took part in the Zoledronic acid in the Prevention of Paget's disease (ZiPP) study. We studied 222 individuals, of whom 54. Read More

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http://dx.doi.org/10.1002/jbmr.4007DOI Listing
March 2020
6.832 Impact Factor

Chronic femoral diaphyseal osteomyelitis with radiographs initially concerning for Paget disease of the bone.

Radiol Case Rep 2020 Apr 27;15(4):344-348. Epub 2020 Jan 27.

Endocrinology and Diabetes, Vanderbilt University Medical Center, 8210 Medical Center East, 1215 21st Avenue South, Nashville, TN 37232-8148, USA.

Chronic osteomyelitis can be difficult to diagnose given its similar radiographic appearance to other lesions. This case report describes a 48-year-old woman, who presented with left thigh pain and on radiography a large disorganized sclerotic lesion involving nearly the entire femoral diaphysis, concerning for Paget disease or malignancy. Biopsy suggested chronic osteomyelitis but did not identify a causative organism. Read More

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http://dx.doi.org/10.1016/j.radcr.2019.12.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7056918PMC

PD-L1 Expression in Extramammary Paget Disease: A Case Series.

Am J Dermatopathol 2020 Mar 6. Epub 2020 Mar 6.

Departments of Pathology and Laboratory Medicine, University of North Carolina School of Medicine, Chapel Hill, NC.

The PD-1/PD-L1 pathway plays a critical role in the physiologic inhibition and modulation of the immune response in normal tissue. Many tumors evade immune detection and response by upregulating PD-L1 expression. Humanized monoclonal PD-1 and PD-L1 antibodies have proven as both tolerable and effective treatment in many neoplasms. Read More

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http://dx.doi.org/10.1097/DAD.0000000000001622DOI Listing

ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology.

J Bone Miner Res 2020 Feb 27. Epub 2020 Feb 27.

Institute of Genetics and Biophysics, National Research Council of Italy, Naples, Italy.

Neoplastic transformation is a rare but serious complication of Paget's disease of bone (PDB), occurring in fewer than 1% of individuals with polyostotic disease. Their prognosis is poor, with less than 50% surviving 5 years. In 2016, the genetic alteration of giant cell tumor (GCT) complicating PDB was identified as a founder germline mutation (P937R) in the ZNF687 gene. Read More

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http://dx.doi.org/10.1002/jbmr.3993DOI Listing
February 2020
6.832 Impact Factor

A Case of Concurrent Extramammary Paget Disease and Basal Cell Carcinoma of the Perianal Region.

Plast Reconstr Surg Glob Open 2020 Jan 20;8(1):e2602. Epub 2020 Jan 20.

Department of Plastic and Reconstructive Surgery, Japanese Red Cross Society Wakayama Medical Center, Wakayama-Shi, Wakayama, Japan.

An 83-year-old Japanese man who had been aware of a tumor near his anus for 2 years underwent tumor resection. Although he was diagnosed with basal cell carcinoma (BCC), extramammary Paget disease (EMPD) was also accidentally found in the same specimen. In the pathological histology of EMPD, there were large round cells with ample cytoplasm spread in the epidermis; these cells were positive for cytokeratin 7 and gross cystic disease fluid protein 15. Read More

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http://dx.doi.org/10.1097/GOX.0000000000002602DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7015592PMC
January 2020

Concurrence of Primary Cutaneous Extra Mammary Paget's Disease and Squamous Cell Carcinoma in situ of Vulva: A Case Report.

Iran J Pathol 2020 ;15(1):48-52

School of Medicine, Metabolic Diseases Research Center, Qazvin University of Medical Sciences, Qazvin, Iran.

Extramammary Paget's disease and vulvar intraepithelial neoplasia are common lesions of vulve, but synchronous occurrence is rare in a same location. Herein we describe a concurrence of primary cutaneous extra mammary Paget's disease and squamous cell carcinoma in situ of vulva in an Iranian women. A 59 year old woman, initially presented to Kosar teaching hospital gynecology clinic April 2017 with a single, well defined, scaly, white ulcerated mass, 2 cm in diameter on right minor labia, but other examinations were normal. Read More

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http://dx.doi.org/10.30699/IJP.2019.93259.1906DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6995679PMC
January 2020

Long-term outcomes following total hip and total knee arthroplasty in patients with Paget's disease of bone (PDB) - A national study.

Surgeon 2020 Feb 18. Epub 2020 Feb 18.

Department of Orthopaedics and Trauma, Royal Infirmary of Edinburgh, 51 Little France Crescent, Edinburgh, EH16 4SA, United Kingdom.

Background: The incidence of total hip and total knee arthroplasty (THA/TKA) is 3.1- and 1.7-fold higher in patients with Paget's disease of bone (PDB) compared to age-matched controls. Read More

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http://dx.doi.org/10.1016/j.surge.2019.12.002DOI Listing
February 2020

European Position Paper on Rhinosinusitis and Nasal Polyps 2020.

Authors:
W J Fokkens V J Lund C Hopkins P W Hellings R Kern S Reitsma S Toppila-Salmi M Bernal-Sprekelsen J Mullol I Alobid W Terezinha Anselmo-Lima C Bachert F Baroody C von Buchwald A Cervin N Cohen J Constantinidis L De Gabory M Desrosiers Z Diamant R G Douglas P H Gevaert A Hafner R J Harvey G F Joos L Kalogjera A Knill J H Kocks B N Landis J Limpens S Lebeer O Lourenco C Meco P M Matricardi L O'Mahony C M Philpott D Ryan R Schlosser B Senior T L Smith T Teeling P V Tomazic D Y Wang D Wang L Zhang A M Agius C Ahlstrom-Emanuelsson R Alabri S Albu S Alhabash A Aleksic M Aloulah M Al-Qudah S Alsaleh M A Baban T Baudoin T Balvers P Battaglia J D Bedoya A Beule K M Bofares I Braverman E Brozek-Madry B Richard C Callejas S Carrie L Caulley D Chussi E de Corso A Coste U El Hadi A Elfarouk P H Eloy S Farrokhi G Felisati M D Ferrari R Fishchuk W Grayson P M Goncalves B Grdinic V Grgic A W Hamizan J V Heinichen S Husain T I Ping J Ivaska F Jakimovska L Jovancevic E Kakande R Kamel S Karpischenko H H Kariyawasam H Kawauchi A Kjeldsen L Klimek A Krzeski G Kopacheva Barsova S W Kim D Lal J J Letort A Lopatin A Mahdjoubi A Mesbahi J Netkovski D Nyenbue Tshipukane A Obando-Valverde M Okano M Onerci Y K Ong R Orlandi N Otori K Ouennoughy M Ozkan A Peric J Plzak E Prokopakis N Prepageran A Psaltis B Pugin M Raftopulos P Rombaux H Riechelmann S Sahtout C-C Sarafoleanu K Searyoh C-S Rhee J Shi M Shkoukani A K Shukuryan M Sicak D Smyth K Snidvongs T Soklic Kosak P Stjarne B Sutikno S Steinsvag P Tantilipikorn S Thanaviratananich T Tran J Urbancic A Valiulius C Vasquez de Aparicio D Vicheva P M Virkkula G Vicente R Voegels M M Wagenmann R S Wardani A Welge-Lussen I Witterick E Wright D Zabolotniy B Zsolt C P Zwetsloot

Rhinology 2020 Feb 20;58(Suppl S29):1-464. Epub 2020 Feb 20.

Department of Neurology, Dijklander Ziekenhuis, Purmerend, The Netherlandsn.

The European Position Paper on Rhinosinusitis and Nasal Polyps 2020 is the update of similar evidence based position papers published in 2005 and 2007 and 2012. The core objective of the EPOS2020 guideline is to provide revised, up-to-date and clear evidence-based recommendations and integrated care pathways in ARS and CRS. EPOS2020 provides an update on the literature published and studies undertaken in the eight years since the EPOS2012 position paper was published and addresses areas not extensively covered in EPOS2012 such as paediatric CRS and sinus surgery. Read More

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http://dx.doi.org/10.4193/Rhin20.600DOI Listing
February 2020

A mutation in p62 protein (p. R321C), associated to Paget's disease of bone, causes a blockade of autophagy and an activation of NF-kB pathway.

Bone 2020 Apr 6;133:115265. Epub 2020 Feb 6.

Molecular Medicine Unit, Department of Medicine, University of Salamanca, Salamanca, Spain; Salamanca Institute of Biomedical Research (IBSAL), University Hospital of Salamanca, University of Salamanca, Salamanca-CSIC, Spain; Institute of Molecular and Cellular Biology of Cancer (IBMCC), University of Salamanca-CSIC, Salamanca, Spain. Electronic address:

Paget's disease of bone (PDB) is a bone disorder characterized by an increase in bone turnover in a disorganized way with a large increase in bone resorption followed by bone formation. The most important known genetic factor predisposing to PDB is mutation in Sequestosome1 (SQSTM1) gene. We have studied the prevalence of SQSTM1 mutations and examined genotype-phenotype correlations in a Spanish cohort of PDB patients. Read More

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http://dx.doi.org/10.1016/j.bone.2020.115265DOI Listing

Wide Local Excision of Perianal Paget Disease with Split-Thickness Skin Grafting.

Dis Colon Rectum 2020 Mar;63(3):406-407

Department of Colorectal Surgery, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, OH.

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http://dx.doi.org/10.1097/DCR.0000000000001545DOI Listing

The Loss of Profilin 1 Causes Early Onset Paget's Disease of Bone.

J Bone Miner Res 2020 Jan 28. Epub 2020 Jan 28.

Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", National Research Council of Italy, Naples, Italy.

Paget's disease of bone (PDB) is a late-onset disorder frequently caused by mutations in the SQSTM1 gene, leading to hyperactive osteoclasts and resulting in bone pain, deformities, and fractures. However, some more severe forms of PDB-negative for SQSTM1 mutations-have been described, in which the disease degenerates into bone cancers and shows a poor prognosis. Osteosarcoma is the most frequent and aggressive tumor arising in PDB (OS/PDB), with a 5-year survival rate almost nil, but the underlying molecular mechanism is unknown. Read More

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http://dx.doi.org/10.1002/jbmr.3964DOI Listing
January 2020
6.832 Impact Factor

Transition to adult care for young people with cerebral palsy.

Paediatr Respir Rev 2020 Feb 10;33:16-23. Epub 2019 Dec 10.

Kids Rehab, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.

Cerebral palsy (CP) is associated with a high burden of comorbid respiratory disease subsequent to multiple risk factors associated with increasing levels of disability. Correspondingly, respiratory disease is the leading cause of death in CP, including amongst young people who are transitioning or who have just transitioned between paediatric and adult healthcare services. Therefore, consideration of both preventive and therapeutic respiratory management is integral to transition in patients with CP, as summarised in this review. Read More

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http://dx.doi.org/10.1016/j.prrv.2019.12.002DOI Listing
February 2020

Co-occurrence of apocrine adenocarcinoma and invasive mammary-type ductal carcinoma in extramammary Paget disease of the axilla.

Arch Plast Surg 2020 Jan 15;47(1):83-87. Epub 2020 Jan 15.

Department of Surgery, Yonsei University College of Medicine, Seoul, Korea.

Extramammary Paget disease (EMPD) is an uncommon malignancy that occurs in apocrine gland-rich areas of the body. EMPD of the axilla is rare, but a few cases have been reported. Some cases of EMPD have been reported with underlying apocrine adenocarcinoma; rarely, mammary-type ductal carcinoma can accompany EMPD. Read More

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http://dx.doi.org/10.5999/aps.2019.01172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6976753PMC
January 2020

Pamidronate: A model compound of the pharmacology of nitrogen-containing bisphosphonates; A Leiden historical perspective.

Bone 2020 May 17;134:115244. Epub 2020 Jan 17.

Center for Bone Quality, Leiden University Medical Center, Albinusdreef 2, 2333, ZA, Leiden, the Netherlands. Electronic address:

Pamidronate [3-amino-1-hydroxypropylidene-1,1-bisphosphonate (APD)] was the first nitrogen-containing bisphosphonate (N-BP) investigated in clinical studies. In contrast to other clinically used bisphosphonates, pamidronate was discovered and its properties were initially studied in an Academic Institution. On the occasion of the 50th Anniversary of the first publications on the biological effects of bisphosphonates, I review in this article the contribution of Leiden investigators to the development of pamidronate that led to the recognition of the significance of the Nitrogen atom in the side chain of bisphosphonates for their action on bone resorption and to the formulation of principles for the use of N-BPs in the management of patients with different skeletal disorders. Read More

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http://dx.doi.org/10.1016/j.bone.2020.115244DOI Listing

Early-onset Paget's disease of bone in a Mexican family caused by a novel tandem duplication (77dup27) in TNFRSF11A that encodes RANK.

Bone 2020 Apr 8;133:115224. Epub 2020 Jan 8.

Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO, USA; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children-St. Louis, St. Louis, MO, USA. Electronic address:

Four heterozygous in-frame tandem duplications of different lengths in TNFRSF11A, the gene that encodes receptor activator of nuclear factor κB (RANK), constitutively activate RANK and lead to high turnover skeletal disease. Each duplication elongates the signal peptide of RANK. The 18-base pair (bp) duplication at position 84 (84dup18) causes familial expansile osteolysis (FEO), the 15-bp duplication at position 84 (84dup15) causes expansile skeletal hyperphosphatasia (ESH), the 12-bp duplication at position 90 (90dup12) causes panostotic expansile bone disease (PEBD), and the 27-bp duplication causes early-onset Paget's disease of bone (PDB2). Read More

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http://dx.doi.org/10.1016/j.bone.2020.115224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7179970PMC

History of etidronate.

Bone 2020 May 3;134:115222. Epub 2020 Jan 3.

Procter & Gamble Pharmaceuticals, 8700 Mason Montgomery Road, Mason, OH 45040, USA. Electronic address:

Etidronate is a non-nitrogen-containing bisphosphonate. Because it binds with calcium and inhibits crystal formation and dissolution, it was considered by Procter & Gamble as an additive to toothpaste (to prevent build-up of tartar) and detergent (to bind calcium and increase sudsing in "hard" water). The first clinical use (1968) was for fibrodysplasia ossificans progressiva. Read More

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http://dx.doi.org/10.1016/j.bone.2020.115222DOI Listing

Comparison of the biomarkers for targeted therapies in primary extra-mammary and mammary Paget's disease.

Cancer Med 2020 Feb 3;9(4):1441-1450. Epub 2020 Jan 3.

Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA.

Background: Primary Extra-mammary Paget's disease (EMPD) is a very rare cutaneous adenocarcinoma affecting anogenital or axillary regions. It is characterized by a prolonged course with recurrences and eventually distant metastatic spread for which no specific therapy is known.

Methods: Eighteen EMPD (13 vulvar and five scrotal) and ten mammary Paget's disease (MPD) cases were comprehensively profiled for gene mutations, fusions and copy number alterations, and for therapy-relevant protein biomarkers). Read More

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http://dx.doi.org/10.1002/cam4.2820DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7013075PMC
February 2020

Multifocal and multicentric breast cancer, is it time to think again?

Ann R Coll Surg Engl 2020 Jan 6;102(1):62-66. Epub 2019 Sep 6.

Aberdeen Royal Infirmary, NHS Grampian, Aberdeen, UK.

Multifocal multicentric breast cancer has traditionally been considered a contraindication to breast conserving surgery because of concerns regarding locoregional control and risk of disease recurrence. However, the evidence supporting this practice is limited. Increasingly, many breast surgeons are advocating breast conservation in selected cases. Read More

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http://dx.doi.org/10.1308/rcsann.2019.0109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6937617PMC
January 2020

Management of Hydrocephalus in Paget's Disease of Bone: Systematic Review and Illustrative Case.

World Neurosurg 2020 Mar 24;135:e640-e649. Epub 2019 Dec 24.

Section of Neurosurgery, Department of Neurosciences, College of Medicine and Philippine General Hospital, University of the Philippines Manila, Manila, Philippines. Electronic address:

Objective: Paget's disease of the bone (PDB) is a focal bone disorder characterized by excessive resorption and deposition of pathologic bone. It can involve the skull and cause neurologic dysfunction. Hydrocephalus occurring as a complication has also been reported. Read More

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http://dx.doi.org/10.1016/j.wneu.2019.12.099DOI Listing

Photodynamic therapy following fractional CO laser for treatment of primary vulvar Paget's disease: does it really work?

J Dermatolog Treat 2019 Dec 27:1-3. Epub 2019 Dec 27.

Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.

Extra-mammary Paget's disease is a rare form of intraepithelial adenocarcinoma with a variable pattern of invasion. Vulvar Paget's disease represents 1% of all vulvar cancers. Standard treatment is surgical excision, however, the recurrence rate is high and surgery leads to anatomical, functional and sexual morbidity. Read More

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http://dx.doi.org/10.1080/09546634.2019.1707755DOI Listing
December 2019
1.764 Impact Factor

Multisystem proteinopathy due to a homozygous p.Arg159His mutation: A tale of the unexpected.

Neurology 2020 Feb 17;94(8):e785-e796. Epub 2019 Dec 17.

From the Neurogenetics Group (W.D.R., P.D.J., J.B.), Laboratory of Neuromuscular Pathology (W.D.R., P.D.J., J.B.), Institute Born-Bunge, Neuromics Support Facility (A.A.), VIB-UAntwerp Center for Molecular Neurology, and Receptor Biology Lab (S.M.), Department of Biomedical Sciences, University of Antwerp; Neuromuscular Reference Centre (W.D.R., P.D.J., J.B.), Department of Neurology, Antwerp University Hospital, Belgium; Institute of Neuropathology (C.S.C., R.S.), University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen; Centre for Biochemistry (C.S.C., L.E.), Institute of Biochemistry I, and Center for Physiology and Pathophysiology (C.S.C.), Institute of Vegetative Physiology, Medical Faculty, University of Cologne, Germany; Griffith Institute for Drug Discovery (A.H), Griffith University, Nathan, Brisbane, Queensland; Department of Veterinary Biosciences (A.H.), Melbourne Veterinary School, Faculty of Veterinary and Agricultural Sciences, University of Melbourne, Parkville, Victoria, Australia; John Walton Muscular Dystrophy Research Centre (K.J., A.T., V.S.), Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle-Upon-Tyne, UK; and Laboratory for Neuropathology (J.L.D.B.), Division of Neurology, Ghent University Hospital, Belgium.

Objective: To assess the clinical, radiologic, myopathologic, and proteomic findings in a patient manifesting a multisystem proteinopathy due to a homozygous valosin-containing protein gene () mutation previously reported to be pathogenic in the heterozygous state.

Methods: We studied a 36-year-old male index patient and his father, both presenting with progressive limb-girdle weakness. Muscle involvement was assessed by MRI and muscle biopsies. Read More

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http://dx.doi.org/10.1212/WNL.0000000000008763DOI Listing
February 2020
8.286 Impact Factor

Sequential somatic mutations upon secondary anti-HER2 treatment resistance in metastatic ERBB2 mutated extramammary Paget's disease.

Oncotarget 2019 Nov 19;10(62):6647-6650. Epub 2019 Nov 19.

Department of Dermatology, University Hospital Zurich, Zurich, Switzerland.

Metastatic extramammary Paget's disease is a rare adenocarcinoma with poor prognosis. Several reports of human epidermal growth factor receptor 2 alterations point to its pathogenic role in the disease. However, the occurrence of treatment resistance to anti-HER2 therapy demand the need for further knowledge. Read More

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http://dx.doi.org/10.18632/oncotarget.27272DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6877105PMC
November 2019

Photodynamic Therapy Using a New Painless Light-Emitting Fabrics Device in the Treatment of Extramammary Paget Disease of the Vulva (the PAGETEX Study): Protocol for an Interventional Efficacy and Safety Trial.

JMIR Res Protoc 2019 Dec 3;8(12):e15026. Epub 2019 Dec 3.

U1189 - Image Assisted Laser Therapies for Oncology, Inserm, Centre Hospitalier et Universitaire de Lille, Université de Lille, Lille, France.

Background: Extramammary Paget disease of the vulva (EMPV) is a rare skin disorder commonly seen in postmenopausal Caucasian females that appears clinically as red, eczematous, pruriginous, and sometimes painful lesions. Although most cases are noninvasive, EMPV may be associated with an underlying or distant adenocarcinoma. EMPV has a chronic and relapsing course. Read More

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http://dx.doi.org/10.2196/15026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6918208PMC
December 2019

Fungal Masquerader: A Case Report of Extramammary Paget's Disease Treated with Radiotherapy.

Cureus 2019 Oct 17;11(10):e5937. Epub 2019 Oct 17.

Dermatology, KCU-GME Consortium/Orlando Dermatology Program, Maitland, USA.

An 83-year-old Caucasian male presented with a pruritic erythematous patch to his right inguinal region, which he had contracted five months ago. After months of topical antifungal and steroid therapies, the patient was referred to dermatology due to a lack of lesion improvement. A 5. Read More

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http://dx.doi.org/10.7759/cureus.5937DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6858263PMC
October 2019

Extramammary Paget disease of the vulva: Management and prognosis.

Gynecol Oncol 2020 Apr 25;157(1):146-150. Epub 2019 Nov 25.

Division of Gynecologic Oncology, Penn Medicine, Philadelphia, PA, USA.

Objective: To evaluate the clinicopathological characteristics, management and prognosis of patients with vulvar extramammary Paget disease of the vulva (EMPD).

Materials And Methods: The U.S National Cancer Database was accessed and patients diagnosed between 2004 and 2015 with microscopically confirmed vulvar EMPD were selected. Read More

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http://dx.doi.org/10.1016/j.ygyno.2019.11.009DOI Listing

Clinical Reasoning: Progressive proximal weakness in a 56-year-old man with bone pain.

Neurology 2019 11;93(21):939-944

From the Departments of Pathology (A.H.) and Neurology (R.J.N., B.R.), Yale School of Medicine (T.T.), New Haven, CT.

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http://dx.doi.org/10.1212/WNL.0000000000008535DOI Listing
November 2019

Pulmonary Infarction due to Paget-Schroetter Syndrome and Nephrotic Syndrome.

Am J Case Rep 2019 Nov 15;20:1679-1683. Epub 2019 Nov 15.

Division of Pulmonary/Critical Care, Massachusetts General Hospital, Boston, MA, USA.

BACKGROUND Risk factors for venous thromboembolism can include a combination of genetic, anatomic, and physiologic factors, some of which are modifiable. Patients presenting to the hospital with venous thromboembolism may have multiple risk factors that require testing beyond the initial admission labs and hypercoagulability screening panel. CASE REPORT We describe a right-handed patient who lifts weights for exercise, who presented with pulmonary infarcts and clot in the right superior vena cava/subclavian vein. Read More

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http://dx.doi.org/10.12659/AJCR.919141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6870750PMC
November 2019

Paget's disease of the nipple in a Her2-positive breast cancer xenograft model.

Breast Cancer Res Treat 2020 Feb 13;179(3):577-584. Epub 2019 Nov 13.

Department of Medicine, Division of Hematology/Oncology, University of Miami, Miller School of Medicine, Miami, FL, 33136, USA.

Purpose: Paget's disease (PD) of the breast is an uncommon disease of the nipple usually accompanied by an underlying carcinoma, often HER2 + , and accounting for 0.5-5% of all breast cancer. To date, histogenesis of PD of the breast remains controversial, as two theories-transformation and epidermotropic-have been proposed to explain this disease. Read More

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http://dx.doi.org/10.1007/s10549-019-05490-8DOI Listing
February 2020

Antitubercular Triazines: Optimization and Intrabacterial Metabolism.

Cell Chem Biol 2020 Feb 8;27(2):172-185.e11. Epub 2019 Nov 8.

Department of Pharmacology, Physiology and Neuroscience, Rutgers University - New Jersey Medical School, Newark, NJ 07103, USA; Division of Infectious Disease, Department of Medicine and the Ruy V. Lourenço Center for the Study of Emerging and Re-emerging Pathogens, Rutgers University - New Jersey Medical School, Newark, NJ 07103, USA. Electronic address:

The triazine antitubercular JSF-2019 was of interest due to its in vitro efficacy and the nitro group shared with the clinically relevant delamanid and pretomanid. JSF-2019 undergoes activation requiring FH and one or more nitroreductases in addition to Ddn. An intrabacterial drug metabolism (IBDM) platform was leveraged to demonstrate the system kinetics, evidencing formation of NO and a des-nitro metabolite. Read More

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http://dx.doi.org/10.1016/j.chembiol.2019.10.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035970PMC
February 2020

Cardioprotective Effects of VCP Modulator KUS121 in Murine and Porcine Models of Myocardial Infarction.

JACC Basic Transl Sci 2019 Oct 28;4(6):701-714. Epub 2019 Oct 28.

Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.

No effective treatment is yet available to reduce infarct size and improve clinical outcomes after acute myocardial infarction by enhancing early reperfusion therapy using primary percutaneous coronary intervention. The study showed that Kyoto University Substance 121 (KUS121) reduced endoplasmic reticulum stress, maintained adenosine triphosphate levels, and ameliorated the infarct size in a murine cardiac ischemia and reperfusion injury model. The study confirmed the cardioprotective effect of KUS121 in a porcine ischemia and reperfusion injury model. Read More

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http://dx.doi.org/10.1016/j.jacbts.2019.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6834964PMC
October 2019

Bisphosphonates-much more than only drugs for bone diseases.

Eur J Pharmacol 2020 Jan 6;866:172773. Epub 2019 Nov 6.

Department of Organic and Bioorganic Chemistry and Biotechnology, Silesian University of Technology, B. Krzywoustego 4, 44-100, Gliwice, Poland.

α,α-Bisphosphonates (BPs) are well established in the treatment of bone diseases such as osteoporosis and Paget's disease. Their successful application originates from their high affinity to hydroxyapatite. While the initially appreciated features of BPs are already beneficial to many patients, recent developments have further expanded their pleiotropic applications. Read More

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http://dx.doi.org/10.1016/j.ejphar.2019.172773DOI Listing
January 2020

Vulvar Paget disease secondary to high-grade urothelial carcinoma with underlying massive vascular embolization and cervical involvement: case report of unusual presentation.

Diagn Pathol 2019 Nov 7;14(1):125. Epub 2019 Nov 7.

Department of Pathology, Faculdade de Medicina FMUSP, Universidade de São Paulo, Av. Dr. Arnaldo, 455 - room 1149, Sao Paulo, SP, 01246-903, Brazil.

Background: Vulvar extramammary Paget disease is a rare chronic condition, that presents with non-specific symptoms such as pruritus and eczematous lesions. Because most of these lesions are noninvasive, the distinction between primary and secondary Paget disease is crucial to management.

Case Presentation: We report an unusual case of vulvar Paget disease associated with massive dermal vascular embolization, cervicovaginal involvement and metastasis to inguinal and retroperitoneal lymph nodes. Read More

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http://dx.doi.org/10.1186/s13000-019-0895-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6836446PMC
November 2019

Extramammary Paget disease shows differential expression of B7 family members B7-H3, B7-H4, PD-L1, PD-L2 and cancer/testis antigens NY-ESO-1 and MAGE-A.

Oncotarget 2019 Oct 22;10(58):6152-6167. Epub 2019 Oct 22.

Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.

Extramammary Paget disease (EMPD) is a rare cutaneous adenocarcinoma of the anogenital region most commonly treated with surgical excision. Surgical margin clearance is often problematic and recurrence rates remain high indicating the need for additional therapeutic options. Topical immunomodulators have been used with reported success suggesting EMPD may respond to other immunotherapies. Read More

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http://dx.doi.org/10.18632/oncotarget.27247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817453PMC
October 2019
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