Expanding the spectrum of KIF5A mutations—case report of a large kindred with familial ALS and overlapping syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"
DOI: 10.1080/21678421.2022.2164204
Abstract: Abstract Objectives This paper presents the first report of amyotrophic lateral sclerosis (ALS) kindred due to the KIF5A p.Arg1007Lys, a splice-altering variant. Methods An index case was a 54-year-old male who developed progressive gait difficulty… read more here.
Keywords: index case; expanding spectrum; report; case ... See more keywords
Expanding Spectrum of Toxoplasma gondii: Thymoma and Toxoplasmic Encephalitis
Sign Up to like & getrecommendations! Published in 2018 at "Open Forum Infectious Diseases"
DOI: 10.1093/ofid/ofy163
Abstract: Abstract In this brief report, we describe a 76-year-old patient with thymoma who underwent craniotomy for a left parietal lobe mass with pathologic findings consistent with Toxoplasma gondii encephalitis in the absence of any features… read more here.
Keywords: toxoplasma gondii; encephalitis; expanding spectrum; thymoma ... See more keywords
The expanding spectrum and utility of antigens in membranous nephropathy
Sign Up to like & getrecommendations! Published in 2023 at "Current Opinion in Nephrology and Hypertension"
DOI: 10.1097/mnh.0000000000000876
Abstract: Purpose of review Multiple antigenic targets were discovered in membranous nephropathy, representing distinct autoimmune diseases with a similar morphologic pattern of injury. An overview of recent developments, including antigen types, clinical associations, serologic monitoring, and… read more here.
Keywords: spectrum utility; utility antigens; expanding spectrum; factor ... See more keywords
Expanding the spectrum of EWSR1‐PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination
Sign Up to like & getrecommendations! Published in 2020 at "Brain Pathology"
DOI: 10.1111/bpa.12934
Abstract: We report on a case of EWSR1‐PATZ1 rearranged brain tumor occurring in a 17 month‐old child, originally interpreted as an infantile glioblastoma. Our case shows important analogies with the 2 previously reported cases, including the… read more here.
Keywords: ewsr1 patz1; case; patz1 rearranged; leptomeningeal dissemination ... See more keywords
Subungual metastasis: expanding the spectrum
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.15556
Abstract: Subungual metastases (SM) represent a very rare event, in which malignant cells spread from a primary tumor to the nail unit, ie specifically the nail plate and the tissue around it. They account for 1%… read more here.
Keywords: dermatology; nail; subungual metastasis; expanding spectrum ... See more keywords
Cranial Fasciitis in Children: Expanding the Spectrum of USP6-Associated Clonal Transient Neoplasms
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric and Developmental Pathology"
DOI: 10.1177/10935266211063989
Abstract: Background: Cranial fasciitis (CF) is a benign (myo)fibroblastic proliferation of children. Typical presentation consists of a rapidly growing solitary mass on the temporal or parietal cranium in the first 2 years of age. CF is… read more here.
Keywords: children expanding; fasciitis; cranial fasciitis; fasciitis children ... See more keywords
Expanding the Spectrum of Perioral Myogenic Tumors in Pediatric Patients: An SRF::NCOA2 Fused Perivascular Tumor of the Philtrum
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric and Developmental Pathology"
DOI: 10.1177/10935266221138896
Abstract: Background: Perivascular tumors, which include myopericytoma and myofibroma, are rare benign soft tissue neoplasms composed of perivascular smooth muscle cells. Most demonstrate characteristic morphology and are readily diagnosed. However, a recently identified hypercellular subset shows… read more here.
Keywords: srf ncoa2; soft tissue; expanding spectrum; spectrum perioral ... See more keywords
Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions
Sign Up to like & getrecommendations! Published in 2021 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000575
Abstract: Objective Hexanucleotide repeat expansions (HREs) in C9orf72 are a major cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). We aimed to determine the frequency and phenomenology of movement disorders (MD) in carriers of… read more here.
Keywords: expanding spectrum; present patients; hexanucleotide; tremor ... See more keywords
Editorial: Expanding spectrum of primary aldosteronism: exploring new grounds
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2023.1171857
Abstract: vein to peripheral vein de fi nes the selectivity index (SI). However, with no standardized cut-off levels, this limits the applicability of AVS when cortisol is being utilized (5, 6). The use of free metanephrine… read more here.
Keywords: editorial expanding; aldosteronism exploring; expanding spectrum; spectrum primary ... See more keywords
Expanding the Spectrum of Adenoviral Vectors for Cancer Therapy
Sign Up to like & getrecommendations! Published in 2020 at "Cancers"
DOI: 10.3390/cancers12051139
Abstract: Adenoviral vectors (AdVs) have attracted much attention in the fields of vaccine development and treatment for diseases such as genetic disorders and cancer. In this review, we discuss the utility of AdVs in cancer therapies.… read more here.
Keywords: vectors cancer; adenoviral vectors; cancer treatment; cancer ... See more keywords