Posterior reversible encephalopathy syndrome in a patient with chronic obstructive pulmonary disease
Sign Up to like & getrecommendations! Published in 2018 at "Acta Neurologica Belgica"
DOI: 10.1007/s13760-018-1043-4
Abstract: Posterior Reversible Encephalopathy Syndrome (PRES) was first described in 1996 in a case series of 15 patients. Initially, typical presenting symptoms of patients with PRES were seizures, visual disturbances, encephalopathy, and headache. Currently, the diagnosis… read more here.
Keywords: encephalopathy syndrome; syndrome patient; disease; posterior reversible ... See more keywords
Sjogren's syndrome in a patient previously diagnosed as seasonal affective disorder
Sign Up to like & getrecommendations! Published in 2017 at "European Psychiatry"
DOI: 10.1016/j.eurpsy.2017.01.650
Abstract: Introduction Sjogren's syndrome (SS) is a common autoimmune disorder that is characterized by chronic inflammation of lachrymal and salivary glands. The well-known clinical manifestations of SS are dry eyes and dry mouth. However, the disease… read more here.
Keywords: disorder; sjogren syndrome; seasonal affective; syndrome patient ... See more keywords
Endovascular therapy for cerebral infarction due to Trousseau syndrome in a patient with non-small cell lung cancer
Sign Up to like & getrecommendations! Published in 2021 at "Respiratory Medicine Case Reports"
DOI: 10.1016/j.rmcr.2021.101531
Abstract: We describe a case of Trousseau's syndrome in a patient with lung carcinoma. A 69-year-old man presented with pleural effusion. Further evaluation revealed EGFR mutation-positive non-small cell carcinoma in the upper lobe with extensive lymph… read more here.
Keywords: trousseau; syndrome patient; endovascular therapy; trousseau syndrome ... See more keywords
Modeling Down Syndrome with Patient iPSCs Reveals Cellular and Migration Deficits of GABAergic Neurons
Sign Up to like & getrecommendations! Published in 2018 at "Stem Cell Reports"
DOI: 10.1016/j.stemcr.2018.02.001
Abstract: Summary The brain of Down syndrome (DS) patients exhibits fewer interneurons in the cerebral cortex, but its underlying mechanism remains unknown. By morphometric analysis of cortical interneurons generated from DS and euploid induced pluripotent stem… read more here.
Keywords: gabaergic neurons; syndrome patient; ipscs reveals; migration ... See more keywords
Pigmentary retinopathy with perivascular sparing in a SOFT syndrome patient with a novel homozygous splicing variant in POC1A gene
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2103837
Abstract: ABSTRACT Purpose SOFT syndrome is an extremely rare inherited dwarfism syndrome. The syndrome has four major clinical manifestations: short stature, onychodysplasia, facial dysmorphism, and hypotrichosis. Herein, we report a unique case of a SOFT syndrome… read more here.
Keywords: syndrome patient; soft syndrome; retinopathy perivascular; pigmentary retinopathy ... See more keywords
A case of Sézary syndrome in a patient during treatment with baricitinib for seronegative rheumatoid arthritis.
Sign Up to like & getrecommendations! Published in 2022 at "Clinical and experimental dermatology"
DOI: 10.1093/ced/llac124
Abstract: The risk of developing malignancies including cutaneous T-cell lymphoma with use of Janus kinase inhibitors is of concern. Here, we describe a case of Sézary syndrome in a patient during treatment with baricitinib for seronegative… read more here.
Keywords: baricitinib seronegative; zary syndrome; syndrome patient; treatment baricitinib ... See more keywords
Unique Sjögren's syndrome patient subsets defined by molecular features.
Sign Up to like & getrecommendations! Published in 2019 at "Rheumatology"
DOI: 10.1093/rheumatology/kez335
Abstract: OBJECTIVE To address heterogeneity complicating primary SS (pSS) clinical trials, research and care by characterizing and clustering patients by their molecular phenotypes. METHODS pSS patients met American-European Consensus Group classification criteria and had at least… read more here.
Keywords: patient subsets; gren syndrome; ifn inflammation; syndrome patient ... See more keywords
Guillain‐Barré syndrome in a patient with antibodies against SARS‐COV‐2
Sign Up to like & getrecommendations! Published in 2020 at "European Journal of Neurology"
DOI: 10.1111/ene.14388
Abstract: ABSTRACT There are now several reports on neurologic features of SARS‐CoV‐2 infection.1 2 In a recent study of 214 patients with COVID‐19, 78 (36.4%) patients had neurological manifestations, including headache, dizziness, acute cerebrovascular diseases, and… read more here.
Keywords: antibodies sars; syndrome patient; guillain barr; patient antibodies ... See more keywords
CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty
Sign Up to like & getrecommendations! Published in 2020 at "BMJ Case Reports"
DOI: 10.1136/bcr-2019-233037
Abstract: We report a case of CHARGE syndrome with atypical phenotype and a novel mutation in the CHD7 gene. Laryngomalacia and swallowing difficulties are prominent features in this case. These are commonly found in patients with… read more here.
Keywords: novel; syndrome patient; charge syndrome; charge ... See more keywords
PGL4 syndrome in a patient with synchronous paraganglioma-pheochromocytoma
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-247023
Abstract: Pheochromocytoma and paraganglioma (PGL) are rare neuroendocrine tumours, frequently associated with genetic syndromes. We report the case of a man in his 40s with a left anterior neck mass and a history of hypertensive crisis,… read more here.
Keywords: pgl4 syndrome; syndrome patient; paraganglioma; pheochromocytoma ... See more keywords
Development and testing of an alternative responder definition for EULAR Sjögren’s Syndrome Patient Reported Index (ESSPRI)
Sign Up to like & getrecommendations! Published in 2023 at "RMD Open"
DOI: 10.1136/rmdopen-2022-002721
Abstract: Objectives Dryness, fatigue and joint/muscle pain are typically assessed in Sjögren’s trials using European Alliance of Associations for Rheumatology Sjögren’s Syndrome Patient Reported Index (ESSPRI). A Patient Acceptable Symptom State of 90%), white (90%), with… read more here.
Keywords: responder; gren syndrome; syndrome patient; patient reported ... See more keywords