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Idling for Decades: A European Study on Risk Factors Associated with the Delay Before a Narcolepsy Diagnosis
Published 2022-05-01“…Pasteur Kosice, Kosice, Slovak Republic; 22Serviço de Neurofisiologia, Hospital Santo António/Centro Hospitalar Universitário do Porto and UMIB-Instituto Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal; 23Department of Sleep Medicine, National Institute of Mental Health, Klecany, Czech Republic; 24Department of Neurology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland; 25Department of Neurology, Sechenov First Moscow State University, Moscow, Russia; 26Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, ItalyCorrespondence: Yves Dauvilliers, National Reference Network for Narcolepsy, Sleep-Disorders Center, Department of Neurology, Hopital Gui de Chauliac, INSERM U1061, Montpellier, UM1, France, Email ydauvilliers@yahoo.fr Ramin Khatami, Center for Sleep Medicine, Sleep Research and Epileptology, Klinik Barmelweid AG, Barmelweid, CH-5017, Switzerland, Email ramin.khatami@barmelweid.chPurpose: Narcolepsy type-1 (NT1) is a rare chronic neurological sleep disorder with excessive daytime sleepiness (EDS) as usual first and cataplexy as pathognomonic symptom. Shortening the NT1 diagnostic delay is the key to reduce disease burden and related low quality of life. …”
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1262
Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece
Published 2022-11-01“…The disease manifests in early childhood with persistent microhematuria and can progress to proteinuria and kidney failure in adolescence or early adulthood if left untreated. On biopsy, pathognomonic features include alternate thinning, thickening and lamellation of the glomerular basement membrane (GBM), in the presence of podocyte foot process effacement. …”
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Pathogenesis of acute hepatopancreatic necrosis disease caused by vibrio spp. in whiteleg shrimp Penaeus vannamei (Boone, 1931)
Published 2020“…strain NBP also demonstrated typical pathognomonic AHPND lesions during the histopathologic examination. …”
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1264
The double-sided of human leukocyte antigen-G molecules in type 1 autoimmune hepatitis
Published 2022-10-01“…However, our results open the debate on the ambiguous role of HLA-G molecules expressed by plasma cells, which are pathognomonic features of AIH-1.…”
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Role of stress and ameliorative effects of resveratrol on pathophysiological changes associated with experimental Brucella melitensis infection in non-pregnant boer does
Published 2016“…Although pathological lesions such as microgranuloma, periportal lymphocytic infiltration and necrosis in the liver and lungs are not pathognomonic to Brucella infection, these lesions were consistently observed in this study and it was therefore proposed that they should not be excluded in the differential diagnosis, should these lesions be observed.Treatment with resveratrol following dexamethasone administration was seen to significantly ameliorate damage induced by dexamethasone administration. …”
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1266
Long-term effects of lumacaftor/ivacaftor on paranasal sinus abnormalities in children with cystic fibrosis detected with magnetic resonance imaging
Published 2023-04-01“…Especially mucopyoceles pathognomonic for CRS in CF may cause complications such as spread of infection. …”
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1267
Pictorial Essay of Named CT Signs in COVID-19 Pneumonia on High Resolution Computed Tomography
Published 2022-01-01“…However, the other signs are not pathognomonic to COVID-19, they are still commonly seen.…”
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1268
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum
Published 2021-06-01“…Biochemically, elevated urinary excretion of N-acetylmannosamine (ManNAc) is pathognomonic, the concentrations of which show a significant correlation with clinical severity. …”
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1269
Orbital Floor Fracture Reconstruction Using Conchal Auricular Cartilage Graft
Published 2010-12-01“…This gives a view of the whole orbital area and may reveal a pathognomonic “tear drop” sign, seen as an elliptical opacity underneath the inferior orbital rim, that represents orbital contents, usually orbital fat, that herniated through the fracture.1,3 However, facial computed tomography is still the most useful imaging tool in assessing orbital floor fractures.1,2,3,4 It is usually requested without contrast using 3 different cuts: coronal, axial and sagittal. …”
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A clinical case of metastatic osteosarcoma in the heart cavity [Full text in English]
Published 2018-04-01“…<p>Tumors of the heart are catalogued as a poorly studied area of clinical oncology because of an extreme rarity of this pathology, absence of pathognomonic symptoms, a large variety of clinical manifestations, and diagnostic complexity. …”
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An unusual case of cat scratch disease
Published 2015-10-01“…Both ultrasound and CT showed the presence of colliquative multiple nodes, as well as multiple areas of hypoechoic nodules in the liver and spleen, granulomas related to pathognomonics of the hepatosplenic form of disease. In spite of a silent medical history and the lack of exposure to animal or insects, he resulted positive to IgM anti-Bartonella, and the diagnosis of cat scratch disease was confirmed by biopsy. …”
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Lipid-rich and clear cell neuroendocrine tumors ("carcinoids") of the appendix: potential confusion with goblet cell carcinoid.
Published 2010“…Those associated with von Hippel Lindau disease are pathognomonically "clear" and the cytoplasmic appearance has been ascribed to intracytoplasmic lipid. …”
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A comprehensive morphological study for basal-like breast carcinomas with comparison to nonbasal-like carcinomas
Published 2012-10-01“…</p> <p>Conclusions</p> <p>BLBCs have some distinctive, but not pathognomonical, morphological features. Paying attention to these features and adding cytokeratin14 and vimentin to the immunohistochemical panel can help the definitive diagnosis of BLBCs.…”
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Prominent tauopathy and intracellular β-amyloid accumulation triggered by genetic deletion of cathepsin D: implications for Alzheimer disease pathogenesis
Published 2024-04-01“…Abstract Background Cathepsin D (CatD) is a lysosomal protease that degrades both the amyloid-β protein (Aβ) and the microtubule-associated protein, tau, which accumulate pathognomonically in Alzheimer disease (AD), but few studies have examined the role of CatD in the development of Aβ pathology and tauopathy in vivo. …”
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