Phenotypic subtypes of progressive dysexecutive syndrome due to Alzheimer’s disease: a series of clinical cases
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Neurology"
DOI: 10.1007/s00415-022-11025-x
Abstract: Diagnostic criteria for a progressive dysexecutive syndrome due to Alzheimer's disease (dAD) were proposed. Clinical observations suggest substantial variability in the clinico-radiological profiles within this syndrome. We report a case series of 6 patients with… read more here.
Keywords: syndrome due; dysexecutive syndrome; clinical cases; progressive dysexecutive ... See more keywords
Ectopic Cushing’s syndrome due to thymic neuroendocrine tumours: a systematic review
Sign Up to like & getrecommendations! Published in 2021 at "Reviews in Endocrine and Metabolic Disorders"
DOI: 10.1007/s11154-021-09660-2
Abstract: Knowledge of ectopic Cushing’s syndrome (CS) due to thymic neuroendocrine tumours (NETs) comes from short series or single cases. Our aim is to perform a systematic review using PubMed, Embase, Scopus, Ovid Medline and Biosis… read more here.
Keywords: due thymic; thymic neuroendocrine; ectopic cushing; cushing syndrome ... See more keywords
PANCOAST SYNDROME DUE TO A HIGH GRADE ANAPLASTIC TUMOR
Sign Up to like & getrecommendations! Published in 2020 at "Chest"
DOI: 10.1016/j.chest.2020.08.1391
Abstract: Description The Pancoast tumor is an uncommon type of lung cancer that arises from within the superior sulcus. With most clinical manifestations occurring due to mass effect, Pancoast syndrome is a known complication that includes… read more here.
Keywords: due high; pancoast syndrome; syndrome due; syndrome ... See more keywords
Acute respiratory distress syndrome due to SARS-CoV-2 and Influenza A co-infection in an Italian patient: Mini-review of the literature
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Infectious Diseases"
DOI: 10.1016/j.ijid.2020.06.056
Abstract: Abstract A case of acute respiratory distress syndrome due to SARS-CoV-2 and Influenza A co-infection and a mini-review of the literature is reported. Even in COVID-19 epidemics, the early identification of concurrent respiratory pathogens is… read more here.
Keywords: distress syndrome; acute respiratory; due sars; respiratory distress ... See more keywords
Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1.
Sign Up to like & getrecommendations! Published in 2019 at "Stem cell research"
DOI: 10.1016/j.scr.2019.101428
Abstract: Variants in SCYL1 can cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). The encoded protein is involved in intracellular trafficking between Golgi and ER, specific mechanisms are still to be… read more here.
Keywords: patient calfan; calfan syndrome; stem cell; syndrome due ... See more keywords
Miyazaki Syndrome due to Ventriculoperitoneal Shunt Treatment.
Sign Up to like & getrecommendations! Published in 2018 at "World neurosurgery"
DOI: 10.1016/j.wneu.2018.05.032
Abstract: BACKGROUND The signs and pathomechanism of Miyazaki syndrome is presented through the case of a young female patient. CASE DESCRIPTION The 33-year-old patient had undergone placement of a ventriculoperitoneal shunt with a pressure-adjustable valve for… read more here.
Keywords: miyazaki syndrome; syndrome due; ventriculoperitoneal shunt;
Spondylo-ocular Syndrome Due to a Novel Variant in XYLT2 in an Omani Patient
Sign Up to like & getrecommendations! Published in 2020 at "Journal of pediatric genetics"
DOI: 10.1055/s-0040-1715113
Abstract: Spondylo-ocular syndrome (SOS) is a rare autosomal recessive disorder and affects primarily ocular and spinal tissues. This case report presents an Omani child with a novel homozygous variant, c.2070 G > A (p.Trp690Ter) in XYLT2 associated with… read more here.
Keywords: ocular syndrome; xylt2; due novel; syndrome due ... See more keywords
MRS Shows Regionally Increased Glutamate Levels among Patients with Exhaustion Syndrome Due to Occupational Stress.
Sign Up to like & getrecommendations! Published in 2020 at "Cerebral cortex"
DOI: 10.1093/cercor/bhz340
Abstract: Despite the rapid increase of reports of exhaustion syndrome (ES) due to daily occupational stress, the mechanisms underlying ES are unknown. We used voxel-based 1H-MR spectroscopy to examine the potential role of glutamate in this… read more here.
Keywords: among patients; stress; syndrome due; exhaustion syndrome ... See more keywords
Lemierre's Syndrome Due to the Zoonotic Anaerobe Bacteroides pyogenes: Case Report and Literature Review.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of the Pediatric Infectious Diseases Society"
DOI: 10.1093/jpids/piab001
Abstract: Although Fusobacterium necrophorum is well described as an emerging pathogen of acute mastoiditis in young children, infection with other anaerobes can lead to similar severe sequelae including intracranial and extracranial suppurative thrombophlebitis and sepsis. We… read more here.
Keywords: due zoonotic; lemierre syndrome; syndrome due; anaerobe bacteroides ... See more keywords
Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis.
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000287
Abstract: Traboulsi syndrome is an extremely rare ophthalmological disorder characterised by facial dysmorphism, lens dislocation, anterior segment abnormalities and spontaneous filtering blebs. It is caused by pathogenic variants in the ASPH gene. To date, only 13… read more here.
Keywords: syndrome due; asph mutation; syndrome; traboulsi syndrome ... See more keywords
A case of cryopyrin‐associated periodic fever syndrome due to Q703K mutation in the NLRP3 gene
Sign Up to like & getrecommendations! Published in 2017 at "International Journal of Rheumatic Diseases"
DOI: 10.1111/1756-185x.12991
Abstract: Dear Editor, Cryopyrin-associated periodic syndrome (CAPS) is a rare entity (with estimated prevalence of 1/360 000 people) that encompasses a spectrum of three phenotypes of increasing severity, namely, familial cold urticaria (FCUS), Muckle-Wells syndrome (MWS)… read more here.
Keywords: cryopyrin associated; syndrome due; associated periodic; syndrome ... See more keywords