A genome-wide association study identifies key modulators of complement factor H binding to malondialdehyde-epitopes. Proc Natl Acad Sci U S A. 2020 Apr 22;: Authors: Alic L, Papac-Milicevic N, Czamara D, Rudnick RB, Ozsvar-Kozma M, Hartmann A, Gurbisz M, Hoermann G, Haslinger-Hutter S, Zipfel PF, Skerka C, Binder EB, Binder CJ Abstract Genetic variants within complement factor H (CFH), a major alternative complement pathway regulator, are associated...
Fri Apr 24, 2020 13:33
Matrix mechanotransduction mediated by thrombospondin-1/integrin/YAP in the vascular remodeling. Proc Natl Acad Sci U S A. 2020 Apr 22;: Authors: Yamashiro Y, Thang BQ, Ramirez K, Shin SJ, Kohata T, Ohata S, Nguyen TAV, Ohtsuki S, Nagayama K, Yanagisawa H Abstract The extracellular matrix (ECM) initiates mechanical cues that activate intracellular signaling through matrix-cell interactions. In blood vessels, additional mechanical cues derived from the...
Fri Apr 24, 2020 13:33
Reduced perceptual narrowing in synesthesia. Proc Natl Acad Sci U S A. 2020 Apr 22;: Authors: Maurer D, Ghloum JK, Gibson LC, Watson MR, Chen LM, Akins K, Enns JT, Hensch TK, Werker JF Abstract Synesthesia is a neurologic trait in which specific inducers, such as sounds, automatically elicit additional idiosyncratic percepts, such as color (thus "colored hearing"). One explanation for this trait-and the one tested here-is that synesthesia results from...
Fri Apr 24, 2020 13:33
MTV proteins unveil ER- and microtubule-associated compartments in the plant vacuolar trafficking pathway. Proc Natl Acad Sci U S A. 2020 Apr 22;: Authors: Delgadillo MO, Ruano G, Zouhar J, Sauer M, Shen J, Lazarova A, Sanmartín M, Lai LTF, Deng C, Wang P, Hussey PJ, Sánchez-Serrano JJ, Jiang L, Rojo E Abstract The factors and mechanisms involved in vacuolar transport in plants, and in particular those directing vesicles to their target endomembrane...
Fri Apr 24, 2020 13:33
Single-cell O2 exchange imaging shows that cytoplasmic diffusion is a dominant barrier to efficient gas transport in red blood cells. Proc Natl Acad Sci U S A. 2020 Apr 22;: Authors: Richardson SL, Hulikova A, Proven M, Hipkiss R, Akanni M, Roy NBA, Swietach P Abstract Disorders of oxygen transport are commonly attributed to inadequate carrying capacity (anemia) but may also relate to inefficient gas exchange by red blood cells (RBCs), a process that...
Fri Apr 24, 2020 13:33
Structural basis for Zika envelope domain III recognition by a germline version of a recurrent neutralizing antibody. Proc Natl Acad Sci U S A. 2020 Apr 22;: Authors: Esswein SR, Gristick HB, Jurado A, Peace A, Keeffe JR, Lee YE, Voll AV, Saeed M, Nussenzweig MC, Rice CM, Robbiani DF, MacDonald MR, Bjorkman PJ Abstract Recent epidemics demonstrate the global threat of Zika virus (ZIKV), a flavivirus transmitted by mosquitoes. Although infection is usually...
Fri Apr 24, 2020 13:33
Landscape analysis of adjacent gene rearrangements reveals BCL2L14-ETV6 gene fusions in more aggressive triple-negative breast cancer. Proc Natl Acad Sci U S A. 2020 Apr 22;: Authors: Lee S, Hu Y, Loo SK, Tan Y, Bhargava R, Lewis MT, Wang XS Abstract Triple-negative breast cancer (TNBC) accounts for 10 to 20% of breast cancer, with chemotherapy as its mainstay of treatment due to lack of well-defined targets, and recent genomic sequencing studies have...
Fri Apr 24, 2020 13:33
The microcircuits of striatum in silico. Proc Natl Acad Sci U S A. 2020 Apr 22;: Authors: Hjorth JJJ, Kozlov A, Carannante I, Frost Nylén J, Lindroos R, Johansson Y, Tokarska A, Dorst MC, Suryanarayana SM, Silberberg G, Hellgren Kotaleski J, Grillner S Abstract The basal ganglia play an important role in decision making and selection of action primarily based on input from cortex, thalamus, and the dopamine system. Their main input structure, striatum,...
Fri Apr 24, 2020 13:33
Testing for dependence on tree structures. Proc Natl Acad Sci U S A. 2020 Apr 22;: Authors: Behr M, Ansari MA, Munk A, Holmes C Abstract Tree structures, showing hierarchical relationships and the latent structures between samples, are ubiquitous in genomic and biomedical sciences. A common question in many studies is whether there is an association between a response variable measured on each sample and the latent group structure represented by some...
Fri Apr 24, 2020 13:33
Direct kinetic measurements and theoretical predictions of an isoprene-derived Criegee intermediate.
Direct kinetic measurements and theoretical predictions of an isoprene-derived Criegee intermediate. Proc Natl Acad Sci U S A. 2020 Apr 22;: Authors: Caravan RL, Vansco MF, Au K, Khan MAH, Li YL, Winiberg FAF, Zuraski K, Lin YH, Chao W, Trongsiriwat N, Walsh PJ, Osborn DL, Percival CJ, Lin JJ, Shallcross DE, Sheps L, Klippenstein SJ, Taatjes CA, Lester MI Abstract Isoprene has the highest emission into Earth's atmosphere of any nonmethane hydrocarbon....
Fri Apr 24, 2020 13:33
News Feature: Venom back in vogue as a wellspring for drug candidates. Proc Natl Acad Sci U S A. 2020 Apr 22;: Authors: McDermott A PMID: 32321825 [PubMed - as supplied by publisher]
Fri Apr 24, 2020 13:33
Related ArticlesEndoscopic Transcanal Removal of External Auditory Canal Osteomas. Biomed J. 2020 Apr 21;: Authors: Chen CK, Chang KP, Chien CY, Hsieh LC Abstract BACKGROUND: External auditory canal (EAC) osteomas are rare, slow-growing benign neoplasms. Microscopic surgical excision had been reported for symptomatic osteomas. However, there was no study published on the feasibility of transcanal endoscopic ear surgery (TEES) for EAC osteoma. In this...
Sat Apr 25, 2020 14:29
Related Articlesp16 Range of Expression in Dermal Predominant Benign Epithelioid and Spindled Nevi and Melanoma. J Cutan Pathol. 2020 Apr 24;: Authors: Oaxaca G, Billings SD, Ko JS Abstract BACKGROUND: Screening borderline Spitz tumors with p16 immunohistochemistry has known utility. The applicability to other melanocytic neoplasms is not well defined. METHODS: Cases (N = 104) of blue, cellular blue, epithelioid blue, congenital pattern, deep...
Sat Apr 25, 2020 14:29
Related ArticlesThe Myeloproliferative Neoplasm Landscape: A Patient's Eye View. Adv Ther. 2020 Apr 23;: Authors: Petruk C, Mathias J Abstract Patients with myeloproliferative neoplasms (MPNs), a group of rare haematological conditions including polycythaemia vera, essential thrombocythaemia, and myelofibrosis, often experience a range of symptoms which can significantly impact their quality of life (QoL). Although symptom burden is highest in myelofibrosis...
Sat Apr 25, 2020 14:29
Related Articles[Rare occupational diseases]. Internist (Berl). 2020 Apr 23;: Authors: Drexler H Abstract Rare work-related illnesses do not usually meet the requirements to be recognised and compensated as a legal occupational disease. However, common diseases (e.g. ovarian carcinoma) are sometimes caused by occupational influences (e.g. asbestos), making the occupational disease ovarian cancer caused by occupational exposure to asbestos a rare disease....
Sat Apr 25, 2020 14:29
Related ArticlesBone tissue and mineral metabolism in hereditary endocrine tumors: clinical manifestations and genetic bases. Orphanet J Rare Dis. 2020 Apr 23;15(1):102 Authors: Maraghelli D, Giusti F, Marini F, Brandi ML Abstract Inherited endocrine tumors are neoplasms of endocrine cells, transmitted via autosomal dominant germinal mutations. They present in two different forms: non-syndromic (patient has a single affected endocrine organ during his/her...
Sat Apr 25, 2020 14:29
Related ArticlesA Collision Tumor of the Esophagus: Mixed Squamous Cell Carcinoma and Neuroendocrine Carcinoma. Korean J Gastroenterol. 2020 Apr 25;75(4):207-211 Authors: Choe AR, Shim KN, Lim J, Song EM, Tae CH, Jung SA, Jo MS Abstract Collision tumors are extremely rare, and currently, no therapeutic protocols are established. A 64-year-old man presented to his physician with complaints of right chest and abdominal pain. The contrast-enhanced CT scan...
Sat Apr 25, 2020 14:29
Related ArticlesIncreasing Incidence of Liposarcoma: A Population-Based Study of National Surveillance Databases, 2001-2016. Int J Environ Res Public Health. 2020 Apr 15;17(8): Authors: Bock S, Hoffmann DG, Jiang Y, Chen H, Il'yasova D Abstract Rare cancers, affecting 1 in 5 cancer patients, disproportionally contribute to cancer mortality. This research focuses on liposarcoma, an understudied rare cancer with unknown risk factors and limited treatment...
Sat Apr 25, 2020 14:29
Related ArticlesGonadotroph Tumors Show Subtype Differences That Might Have Implications for Therapy. Cancers (Basel). 2020 Apr 20;12(4): Authors: Ilie MD, Vasiljevic A, Louvet C, Jouanneau E, Raverot G Abstract Gonadotroph tumors, although frequent, are poorly studied and understood, being usually included in the larger nonfunctioning pituitary neuroendocrine tumors (PitNETs) group. Moreover, in comparison to the other types of PitNETs, no established...
Sat Apr 25, 2020 14:29
Related ArticlesInsights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1. Cancers (Basel). 2020 Apr 19;12(4): Authors: Pastorino L, Andreotti V, Dalmasso B, Vanni I, Ciccarese G, Mandalà M, Spadola G, Pizzichetta MA, Ponti G, Tibiletti MG, Sala E, Genuardi M, Chiurazzi P, Maccanti G, Manoukian S, Sestini S, Danesi R, Zampiga V, Starza R, Stanganelli I, Ballestrero A, Mastracci L, Grillo F, Sciallero...
Sat Apr 25, 2020 14:29
Related ArticlesDysmetabolic Circulating Tumor Cells Are Prognostic in Metastatic Breast Cancer. Cancers (Basel). 2020 Apr 19;12(4): Authors: Brisotto G, Biscontin E, Rossi E, Bulfoni M, Piruska A, Spazzapan S, Poggiana C, Vidotto R, Steffan A, Colombatti A, Huck WTS, Cesselli D, Zamarchi R, Turetta M, Del Ben F Abstract Circulating tumor cells (CTCs) belong to a heterogeneous pool of rare cells, and a unequivocal phenotypic definition of CTC is lacking....
Sat Apr 25, 2020 14:29
Related ArticlesValidating indicators of CNS disorders in a swine model of neurological disease. PLoS One. 2020;15(2):e0228222 Authors: Swier VJ, White KA, Meyerholz DK, Chefdeville A, Khanna R, Sieren JC, Quelle DE, Weimer JM Abstract Genetically modified swine disease models are becoming increasingly important for studying molecular, physiological and pathological characteristics of human disorders. Given the limited history of these model systems,...
Sat Apr 25, 2020 13:01
Related ArticlesDevelopment and validation of a nomogram for predicting cancer-specific survival of surgical resected stage I-II adenosquamous carcinoma of the lung. J Surg Oncol. 2020 May;121(6):1027-1035 Authors: Li H, Wang Z, Yang F, Wang J Abstract OBJECTIVES: Primary lung adenosquamous carcinoma (ASC) is a rare cancer subtype and has a poor prognosis. The prognostic factors for resected early-stage ASC remain unclear. We aimed to develop a nomogram...
Sat Apr 25, 2020 13:01
Related ArticlesThe Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly. Nat Commun. 2020 01 23;11(1):435 Authors: Pinese M, Lacaze P, Rath EM, Stone A, Brion MJ, Ameur A, Nagpal S, Puttick C, Husson S, Degrave D, Cristina TN, Kahl VFS, Statham AL, Woods RL, McNeil JJ, Riaz M, Barr M, Nelson MR, Reid CM, Murray AM, Shah RC, Wolfe R, Atkins JR, Fitzsimmons C, Cairns HM, Green MJ, Carr VJ, Cowley MJ, Pickett HA, James PA, Powell...
Sat Apr 25, 2020 13:01
Related ArticlesA Rare Case of Diffuse Large B Cell Lymphoma Presenting as a Cardiac Mass. Am J Case Rep. 2019 Dec 06;20:1821-1825 Authors: Yousif P, Kotecha A, Thakur A, Ismail HM Abstract BACKGROUND Primary mediastinal diffuse large B cell lymphoma (DLBCL) presenting as a large intracardiac tumor is extremely rare and has not been significantly reported in the literature. Cardiac lymphoma consists of 2 subtypes: mediastinal DLBCL invading the heart...
Sat Apr 25, 2020 13:01
Related ArticlesConcurrent Adrenal and Extra-Adrenal Ganglioneuromas: A Case Report. Am J Case Rep. 2019 Dec 06;20:1817-1820 Authors: AlGhamdi MH, AlAyed A, AlShabyli NA, AlGhamdi NH, AlRasheed M Abstract BACKGROUND Ganglioneuroma is a rare benign sympathetic chain neoplasm which rarely arise from the adrenal gland in adults and exceedingly rare for ganglioneuroma to arise from different origins in the same patient. We present a rare case of retroperitoneal...
Sat Apr 25, 2020 13:01
Related ArticlesEmphysematous gastritis associated with gastric cancer: a rare and fatal entity. BMJ Case Rep. 2019 Dec 02;12(12): Authors: Fonseca MR, Constante M, Moura A, Melo Valadão I Abstract Emphysematous gastritis is a rare disease characterised by air in the wall of the stomach due to gas-forming microorganisms. This is a highly lethal entity for which only prompt diagnosis and treatment can avoid mortality. Different factors have been described...
Sat Apr 25, 2020 13:01
Related ArticlesA rare case of chondrosarcoma arising in parotid with extension to lateral skull base. BMJ Case Rep. 2019 Dec 02;12(12): Authors: Pradhan S, Sarkar S, Sable MN, Parida PK Abstract Chondrosarcomas of head and neck region are rare. Very few cases of chondrosarcomas arising in parotid gland have been reported and none with intracranial extension. We report a case of a female presenting with a parotid swelling and a mass in external auditory...
Sat Apr 25, 2020 13:01
Related ArticlesPseudogout or pseudolymphoma? Calcium pyrophosphate deposition disease of the cervical spine: a rare presentation and literature review. BMJ Case Rep. 2019 Dec 02;12(12): Authors: Turaga S, Thomas M, Savy L, Schreiber BE Abstract Calcium pyrophosphate deposition (CPPD) disease is a crystal arthropathy primarily affecting peripheral joints, most commonly the wrist and the knees. However, CPPD in the cervical spine is a rare entity. This...
Sat Apr 25, 2020 13:01
Related ArticlesPrimary cardiac lymphoma. BMJ Case Rep. 2019 Dec 02;12(12): Authors: Chia AXF, Zhao Z, Lim SL Abstract Primary cardiac lymphoma (PCL) is a rare neoplasm involving the heart, pericardium or both. Patients with PCL have a median survival of approximately 7 months based on literature. We report a unique case of a 63-year-old woman presenting with worsening exertional dyspnoea and symptoms of superior vena cava obstruction. Investigations...
Sat Apr 25, 2020 13:01
Related ArticlesExtragastrointestinal stromal tumour (EGIST) presented as a mesenteric and retroperitoneal mass. BMJ Case Rep. 2019 Dec 02;12(12): Authors: Costa Almeida C, Caroço TV, Albano M, Carvalho L Abstract Extragastrointestinal stromal tumour (EGIST) occurs outside the gastrointestinal tract and has histopathological and molecular characteristics similar to gastrointestinal stromal tumour (GIST). This tumour is rare and aggressive. A male patient...
Sat Apr 25, 2020 13:01
Related ArticlesMetachronous Pancreatic Metastasis from Rectal Cancer that Masqueraded as a Primary Pancreatic Cancer: A Rare and Difficult-to-Diagnose Metastatic Tumor in the Pancreas. Am J Case Rep. 2019 Nov 30;20:1781-1787 Authors: Tani R, Hori T, Yamada M, Yamamoto H, Harada H, Yamamoto M, Yazawa T, Tani M, Kamada Y, Aoyama R, Sasaki Y, Zaima M Abstract BACKGROUND Pancreatic metastasis from colorectal cancer is rare and can masquerade as primary...
Sat Apr 25, 2020 13:01
Related ArticlesTumor Lysis Syndrome in Chronic Lymphocytic Leukemia: A Rare Case Report from Nephrology. Am J Case Rep. 2019 Nov 29;20:1776-1780 Authors: Armaly Z, Elias M, Yasin R, Hamzeh M, Jabbour AR, Artoul S, Saffouri A Abstract BACKGROUND Tumor lysis syndrome is common in hematological malignancy, but less frequent in chronic and solid tumors. Almost always it is observed after chemotherapy or radiotherapy initiation, but rarely occurs spontaneously....
Sat Apr 25, 2020 13:01
Related ArticlesAdvanced primary urethral cancer: a case report. J Med Case Rep. 2019 Nov 29;13(1):365 Authors: Chen H, Zou LL, Dong CJ, Li T, Dong ZQ Abstract BACKGROUND: Primary urethral cancer is exceedingly rare, resulting in a limitation in clinicians' experience, and an accurate diagnosis is often delayed due to the non-specific clinical presentation. Here, we present this case report to show the treatment of a patient with primary urethral cancer....
Sat Apr 25, 2020 13:01
Related ArticlesSynovial sarcoma mimicking a traumatic pseudoaneurysm in the upper extremity. BMJ Case Rep. 2019 Nov 26;12(11): Authors: Wang J, Kok HK, Bayat I Abstract Synovial sarcomas are a rare but aggressive malignancy that primarily affects young patients. Diagnosis is often difficult and delayed due to its insidious onset, heterogenous presentation and mimicry of other pathologies. We present the case of a patient with a history of a slow-growing...
Sat Apr 25, 2020 13:01
Related ArticlesRhabdomyosarcoma involving maxilla mimicking gingival enlargement: A diagnostic challenge. BMJ Case Rep. 2019 Nov 26;12(11): Authors: Nangalia R, Shah N, Sheikh MA, Pal M Abstract Rhabdomyosarcoma (RMS) is a rare, rapidly growing, highly aggressive malignant neoplasm, originating from undifferentiated mesenchymal cells that retain their ability to differentiate into skeletal muscle. It mainly affects children, accounts for <1% of...
Sat Apr 25, 2020 13:01
Related ArticlesPancreatic metastases to the colon: an unusual cause of colonic obstruction. BMJ Case Rep. 2019 Nov 26;12(11): Authors: Park DY, Krishnamurthi S, Chahal P, Downs-Kelly E, Morris-Stiff G Abstract We report a case of a 73-year-old woman who developed pancreatic adenocarcinoma and presented with a colonic obstruction due to isolated metastasis to the colon, the primary lesion being diagnosed subsequently on imaging. The histopathological...
Sat Apr 25, 2020 13:01
Unilateral Giant Vulvar Lipoma with Fat Necrosis Not Visualized on Magnetic Resonance Imaging (MRI).
Related ArticlesUnilateral Giant Vulvar Lipoma with Fat Necrosis Not Visualized on Magnetic Resonance Imaging (MRI). Am J Case Rep. 2019 Nov 27;20:1760-1764 Authors: Li S, Haag T, McWhorter J, Ge L, Carlan SJ Abstract BACKGROUND A subcutaneous lipoma is a benign tumor comprised of mature adipocytes. Clinically it presents as a soft, freely moveable, doughy mass that is typically painless and slow growing. Lipomas containing fat necrosis and corresponding...
Sat Apr 25, 2020 13:01
Related ArticlesType A insulin resistance syndrome misdiagnosed as polycystic ovary syndrome: a case report. J Med Case Rep. 2019 Nov 27;13(1):347 Authors: Lin L, Chen C, Fang T, Chen D, Chen K, Quan H Abstract BACKGROUND: Type A insulin resistance syndrome, one type of the hereditary insulin resistance syndromes, is a rare disorder. Patients with type A insulin resistance syndrome are nonobese and demonstrate severe hyperinsulinemia, hyperandrogenism,...
Sat Apr 25, 2020 13:01
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