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https://www.readbyqxmd.com/read/29457785/tia1-variant-drives-myodegeneration-in-multisystem-proteinopathy-with-sqstm1-mutations
#1
YouJin Lee, Per Harald Jonson, Jaakko Sarparanta, Johanna Palmio, Mohona Sarkar, Anna Vihola, Anni Evilä, Tiina Suominen, Sini Penttilä, Marco Savarese, Mridul Johari, Marie-Christine Minot, David Hilton-Jones, Paul Maddison, Patrick Chinnery, Jens Reimann, Cornelia Kornblum, Torsten Kraya, Stephan Zierz, Carolyn Sue, Hans Goebel, Asim Azfer, Stuart H Ralston, Peter Hackman, Robert C Bucelli, J Paul Taylor, Conrad C Weihl, Bjarne Udd
Multisystem proteinopathy (MSP) involves disturbances of stress granule (SG) dynamics and autophagic protein degradation that underlie the pathogenesis of a spectrum of degenerative diseases that affect muscle, brain, and bone. Specifically, identical mutations in the autophagic adaptor SQSTM1 can cause varied penetrance of 4 distinct phenotypes: amyotrophic lateral sclerosis (ALS), frontotemporal dementia, Paget's disease of the bone, and distal myopathy. It has been hypothesized that clinical pleiotropy relates to additional genetic determinants, but thus far, evidence has been lacking...
February 19, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29453232/a-randomized-multicenter-phase-ii-study-of-docosahexaenoic-acid-in-patients-with-a-history-of-breast-cancer-premalignant-lesions-or-benign-breast-disease
#2
Ayca Gucalp, Xi K Zhou, Elise D Cook, Judy E Garber, Katherine D Crew, Julie R Nangia, Priya Bhardwaj, Dilip D Giri, Olivier Elemento, Akanksha Verma, Hanhan Wang, J Jack Lee, Lana A Vornik, Carrie Mays, Diane Weber, Valerie Sepeda, Holly O'Kane, Margaret Krasne, Samantha Williams, Patrick G Morris, Brandy M Heckman-Stoddard, Barbara K Dunn, Clifford A Hudis, Powel H Brown, Andrew J Dannenberg
Obesity, a cause of subclinical inflammation, is a risk factor for the development of postmenopausal breast cancer (BC) and is associated with poorer cancer outcomes. Docosahexaenoic acid (DHA), an omega-3 fatty acid, possesses anti-inflammatory properties. We hypothesized that treatment with DHA would reduce the expression of proinflammatory genes and aromatase, the rate-limiting enzyme for estrogen biosynthesis, in benign breast tissue of overweight/obese women. A randomized, placebo-controlled, double-blind phase II study of DHA given for 12 weeks to overweight/obese women with a history of stage I-III BC, DCIS/LCIS, Paget's disease, or proliferative benign breast disease was carried out...
February 16, 2018: Cancer Prevention Research
https://www.readbyqxmd.com/read/29451702/severity-of-cerebral-palsy-and-likelihood-of-adverse-events-after-botulinum-toxin-a-injections
#3
Caitlyn M Swinney, Karen Bau, Karen L Oakley Burton, Stephen J O'Flaherty, Natasha L Bear, Simon P Paget
AIM: To determine the incidence of common adverse events after botulinum toxin A (BoNT-A) injections in children with cerebral palsy (CP) and to identify whether the severity of CP influences the incidence of adverse events. METHOD: This was an observational study of patients attending a BoNT-A clinic at a tertiary paediatric hospital (2010-2014). Data examined included procedural adverse events at the time of injection and at follow-up. Systemic adverse events were defined as lower respiratory tract illnesses, generalized weakness, dysphagia, and death...
February 16, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29446148/efficacy-of-low-dose-5-fluorouracil-cisplatin-therapy-for-invasive-extramammary-paget-s-disease
#4
Hiroshi Kato, Shoichi Watanabe, Kiyonori Kariya, Motoki Nakamura, Akimichi Morita
Extramammary Paget's disease (EMPD) is one of the cutaneous adenocarcinomas. The effective chemotherapy for advanced EMPD has not been established. This study was designed to evaluate the efficacy of combination 5-fluorouracil (500 mg/body, 7 days/week) and cisplatin (5 mg/body 5 days/week) for invasive EMPD. Seventeen EMPD patients with multiple metastases who visited our dermatology clinic between October 2004 and May 2016 (mean age, 76.9 years; 10 men, seven women) were retrospectively analyzed. Eight EMPD patients underwent low-dose 5-fluorouracil/cisplatin therapy and nine patients chose best supportive care...
February 14, 2018: Journal of Dermatology
https://www.readbyqxmd.com/read/29444958/cdc48-and-ubiquilins-confer-selective-anterograde-protein-sorting-and-entry-into-the-multivesicular-body-in-yeast
#5
Rachel Kama, Galina Gabriely, Vydehi Kanneganti, Jeffrey E Gerst
Cdc48/p97 is known primarily for the retro-translocation of misfolded proteins in ER-associated protein degradation (ERAD). Here, we uncover a novel function for both Cdc48 and the conserved UBA-UBL ubiquitin receptor (ubiquilin) proteins in yeast ( e.g. Ddi1, Dsk2, Rad23), which deliver ubiquitinated proteins to the proteasome for degradation. We show that Cdc48, its core adaptors Npl4 and Ufd1, and the ubiquilins confer the constitutive anterograde delivery of carboxypeptidase S (Cps1), a membranal hydrolase, to the multivesicular body (MVB) and vacuolar lumen...
February 14, 2018: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/29443807/multimodal-imaging-of-angioid-streaks-associated-with-turner-syndrome
#6
Bing Q Chiu, Edmund Tsui, Syed Amal Hussnain, Irene A Barbazetto, R Theodore Smith
PURPOSE: To report multimodal imaging in a novel case of angioid streaks in a patient with Turner syndrome with 10-year follow-up. METHODS: Case report of a patient with Turner syndrome and angioid streaks followed at Bellevue Hospital Eye Clinic from 2007 to 2017. Fundus photography, fluorescein angiography, and optical coherence tomography angiography were obtained. RESULTS: Angioid streaks with choroidal neovascularization were noted in this patient with Turner syndrome without other systemic conditions previously correlated with angioid streaks...
February 13, 2018: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29437000/extraction-identification-and-biological-activities-of-saponins-in-sea-cucumber-pearsonothuria-graeffei
#7
Rafat Afifi Khattab, Mohamed Elbandy, Andrew Lawrence, Tim Paget, Jung Rae-Rho, Yaser S Binnaser, Imran Ali
AIM AND OBJECTIVE: Secondary metabolism in marine organisms produced a diversity of biological important natural compounds which are unpresented in terrestrial species. Sea cucumbers belong to the invertebrate Echinodermata and are famous for their nutraceutical, medical and food values. They are known for possession triterpenoid glycosides (saponins) with various ecological roles. The current work aimed to separate, identify and test various biological activities (anti-bacterial, antifungal, antileishmanial and anticancer properties) of saponins produced by the holothurian Pearsonothuria graeffei from the Red Sea, Egypt...
February 12, 2018: Combinatorial Chemistry & High Throughput Screening
https://www.readbyqxmd.com/read/29432652/osteonecrosis-of-the-jaws-a-14-year-retrospective-survey-of-hospital-admissions
#8
Kelly McGowan, Saso Ivanovski, Caroline Acton
BACKGROUND: Osteonecrosis of the jaw (ONJ) is a serious complication of both radiation and antiresorptive therapies. This study aimed to determine how many patients have been treated for medication-related osteonecrosis of the jaws (MRONJ) and osteoradionecrosis (ORN), and whether the number of diagnoses has decreased over time with improved awareness and preventative measures. METHODS: Medical records at the Royal Brisbane & Women's Hospital, Gold Coast University Hospital, and Robina Hospital were reviewed to identify patients diagnosed with MRONJ and ORN between January 2003 - May 2017...
February 12, 2018: Australian Dental Journal
https://www.readbyqxmd.com/read/29431468/nipple-invasive-primary-carcinomas-clinical-imaging-and-pathologic-features-of-breast-carcinomas-originating-in-the-nipple
#9
Mary Ann Sanders, Jane E Brock, Beth T Harrison, Tad J Wieczorek, Xuefei Hong, Anthony J Guidi, Deborah A Dillon, Leslie Max, Susan C Lester
CONTEXT: - Patients choosing to retain the nipple when undergoing therapeutic or prophylactic mastectomy are at risk for cancers arising at that site. OBJECTIVE: - To identify cases of invasive carcinoma arising within the nipple and to investigate their clinical, imaging, biologic, and staging features. DESIGN: - Carcinomas were identified by prospective review of surgical and consult cases at 4 hospitals. RESULTS: - The 24 patients identified presented with symptoms related to the nipple...
February 12, 2018: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/29407041/high-bone-mass-in-adults
#10
Julien Paccou, Laetitia Michou, Sami Kolta, Françoise Debiais, Bernrard Cortet, Pascal Guggenbuhl
A finding of high bone mineral density (BMD) from routine dual-energy X-ray absorptiometry (DXA) screening is not uncommon. No consensus exists about the definition of high BMD, and T-score and/or Z-score cutoffs of ≥+2.5 or ≥+4 have been suggested. The many disorders that can result in high BMD are usually classified based on whether the BMD changes are focal vs. generalized or acquired vs. constitutional. In over half the cases, careful interpretation of the DXA report and images identifies the cause as an artefact (e...
January 30, 2018: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/29406488/ectopic-extramammary-paget-disease-occurring-on-the-nose
#11
Charlotte K Hughes, Valerie F Shiu, Huma Siddiqui, Jon M Robitschek
No abstract text is available yet for this article.
February 5, 2018: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
https://www.readbyqxmd.com/read/29405575/epidemiology-of-seasonal-influenza-in-the-middle-east-and-north-africa-regions-2010-2016-circulating-influenza-a-and-b-viruses-and-spatial-timing-of-epidemics
#12
Saverio Caini, Clotilde El-Guerche Séblain, Meral A Ciblak, John Paget
BACKGROUND: There is limited knowledge regarding the epidemiology of influenza in Middle East and North Africa. OBJECTIVES: We described the patterns of influenza circulation and the timing of seasonal epidemics in countries of Middle East and North Africa. METHODS: We used virological surveillance data for 2010-2016 from the WHO-FluNet database. In each country, we calculated the median proportion of cases that were caused by each virus type and subtype; determined the timing and amplitude of the primary and secondary peaks; and used linear regression models to test for spatial trends in the timing of epidemics...
February 5, 2018: Influenza and Other Respiratory Viruses
https://www.readbyqxmd.com/read/29401322/prevalence-of-paget-s-disease-of-bone-in-lancaster-time-for-an-update
#13
Omar Abdulla, Mohammed Jawad Naqvi, Sameer Shamshuddin, Marwan Bukhari, Robin Proctor
No abstract text is available yet for this article.
February 1, 2018: Rheumatology
https://www.readbyqxmd.com/read/29400297/perianal-paget-disease-secondary-to-pagetoid-spread-of-mucinous-adenocarcinoma-of-the-anal-canal
#14
Eugénia Matos-Pires, Mário Oliveira, Alexandre João, Pedro Mendes-Bastos
No abstract text is available yet for this article.
February 1, 2018: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/29399532/paget-schroetter-syndrome-treatment-of-venous-thrombosis-and-outcomes
#15
REVIEW
Patrick Hangge, Lisa Rotellini-Coltvet, Amy R Deipolyi, Hassan Albadawi, Rahmi Oklu
Thoracic outlet syndrome (TOS) is a rare clinical entity with many etiologies. Venous thoracic outlet syndrome (VTOS), also called Paget-Schroetter syndrome (PSS), is a primary "effort" thrombosis. Here we will focus on the pathophysiology, anatomy, clinical presentation, treatments, and outcomes of VTOS. Treatment involves anticoagulation, catheter-directed thrombolysis, and surgical decompression. Early diagnosis and treatment can improve symptoms and quality of life.
December 2017: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/29394714/-a-case-of-paget-type-recurrence-20-years-after-breast-conserving-surgery-for-invasive-ductal-carcinoma
#16
Tomohiro Lee, Hidemi Kawajiri, Bunzo Nakata, Go Masuda, Masashige Tendo, Takeshi Hori, Masahiko Ohsawa, Tetsuro Ishikawa
We report an 85-year-old female suffered Paget-type recurrence at right remnant breast. The patient had undergone breast conserving surgery(BCS)20 years ago in another hospital for invasive ductal carcinoma of the right breast(pT1N0M0, Stage I ). Her chief complain was a skin ulcer of the right nipple. The pathological diagnosis for biopsy specimen from the areola was Paget's disease. She underwent total mastectomy. Paget cells were detected pathologically in the epidermis of the nipple and nearby mammary duct connected with fibrous tissue after BCS, suggesting Paget-type recurrence of invasive breast carcinoma...
November 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/29394624/-a-case-report-of-adenocarcinoma-with-pagetoid-growth-secondary-paget-s-disease-of-the-anal-canal
#17
Wataru Okajima, Yoshiaki Kuriu, Tomohiro Arita, Yasutoshi Murayama, Masayoshi Nakanishi, Tokunari Okayama, Toshiyuki Kosuga, Hirotaka Konishi, Ryo Morimura, Atsushi Shiozaki, Hisashi Ikoma, Takeshi Kubota, Hitoshi Fujiwara, Kazuma Okamoto, Eigo Otsuji
Differentiating primary Paget's disease from secondary Paget's disease, which is also known as Pagetoid growth of other cancers, in the perianal region is difficult. Given that the treatment strategies of both disease are significantly different, diagnosis of such conditions should be performed with caution. We report a case of secondary Paget's disease. A 76-year-old man previously visited a hospital because of erythematous plaque around the anus. It was diagnosed as extramammary Paget's disease based on skin biopsy results; consequently, perianal skin resection was performed...
November 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/29394537/-a-case-of-adenoma-of-the-nipple-suspected-of-breast-cancer
#18
Koji Takada, Shinichiro Kashiwagi, Wataru Goto, Yuka Asano, Tamami Morisaki, Satoru Noda, Tsutomu Takashima, Naoyoshi Onoda, Masahiko Ohsawa, Kosei Hirakawa, Masaichi Ohira
Adenoma of the nipple is a rare benign tumor, and it is important to distinguish from Paget's disease or breast cancer. A 45- year-old woman had found induration under the right areola before 2 months and visited our hospital. Ultrasonography showed a 2.4 cm solid tumor in a cystic lesion, which had high blood flow in E area of the right mammary gland. The tumor suspected as duct papillomatosis by core needle biopsy. No metastasis lesion was found by computed tomography and bone scintigraphy. But magnetic resonance imaging showed as a marginally clear tumor with contrast enhanced findings that were relatively early reinforced and prolonged...
November 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/29388461/the-infraclavicular-approach-for-paget-schroetter-syndrome
#19
REVIEW
G Samoila, C P Twine, I M Williams
Introduction Paget-Schroetter syndrome is a rare effort thrombosis of the axillary-subclavian vein, mainly occurring in young male patients. Current management involves immediate catheter directed thrombolysis, followed by surgical decompression of the subclavian vein. This has been invariably performed using a transaxillary or supraclavicular approach. However, the subclavian vein crosses the first rib anteriorly just behind the manubrium and can also be accessed via an infraclavicular incision. Methods MEDLINE ® and Embase™ were searched for all studies on outcomes in patients undergoing infraclavicular first rib resection for treatment of Paget-Schroetter syndrome...
February 2018: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/29372097/paget-s-disease-of-the-breast-a-dangerous-imitator-of-eczema
#20
Paula Aguayo-Carreras, Laura Bonilla-García, Israel Pérez-López, Carlos Cuenca-Barrales, Jesús Tercedor-Sánchez
No abstract text is available yet for this article.
November 2017: Sultan Qaboos University Medical Journal
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