Results 31 to 40 of about 4,013 (133)
ABSTRACT Meningiomas are the most common primary brain tumors worldwide and are classified into 15 subtypes in the 5th edition of the WHO classification. Myxoid meningioma, characterized by the presence of a mucinous matrix within the tumor, is a rare metaplastic meningioma subtype classified as WHO grade 1.
Tatsuya Aso +4 more
wiley +1 more source
Background. The article deals with the study of gastric xanthomas, benign accidental formations with an unknown etiopathogenesis, which, according to the literature, are associated with a number of pathological conditions (atrophic gastritis, intestinal ...
O.V. Simonova +2 more
doaj +1 more source
We report two young children with severe hypertriglyceridemia lacking monogenic causes. Both were ANA‐positive, with confirmed anti‐GPIHBP1 antibodies. Immunosuppressive therapy (hydroxychloroquine ± prednisolone) effectively reduced triglycerides. GPIHBP1 autoantibody‐related hypertriglyceridemia is an important pediatric cause, requiring accurate ...
Rai‐Hseng Hsu +4 more
wiley +1 more source
Multiple histiocytic foam cell nodules of the tongue in a Shih Tzu dog
Abstract An uncommon histiocytic lesion of the tongue was described in an 11‐year‐7‐month‐old male Shih Tzu dog that presented with multiple nodules on the upper lip and tongue, with further dissemination on the ventral lingual surface observed during sedation.
Hugo Henrique Rocon Gregório +4 more
wiley +1 more source
Bleeding Disorders in Children With Genetic Diseases: A Narrative Review
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol +6 more
wiley +1 more source
The Genetic Landscape of Hereditary Spastic Paraplegia in Greece
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis +19 more
wiley +1 more source
Case Report: Cerebrotendinous xanthomatosis
Cerebrotendinous xanthomatosis is a rare genetic disorder. We present and discuss the clinical, radiological, and histopathologic findings in a 36-year-old woman who had juvenile cataract, childhood diarrhea, mental retardation, cerebellar ataxia, and ...
Amit A Karandikar +3 more
doaj +3 more sources
Case report of familial hypercholesterolemia with internal carotid neck swelling
Familial hypercholesterolemia is a multi-gene disorder affecting 1 in 200-500 individual which is characterized by increased level of total cholesterol and low density lipoprotein (LDL) which deposit cholesterol reach protein leading to xanthomas ...
Sudesh Kumar, Prajna Ray, Ranita Sahana
doaj +1 more source
Homozygous familial hypercholesterolemia associated with symmetric subcutaneous lipomatosis
Homozygous familial hypercholesterolemia is an autosomal dominant disorder of lipid metabolism, characterized by reduced clearance of low-density lipoprotein-cholesterol and a high risk of rapid development of cardiovascular diseases.
Noha Mohammed Dawoud +2 more
doaj +1 more source
: Diseases related to lipid metabolism disorders are reported in several orders of birds, especially in psittacines, and include obesity, atherosclerosis, hepatic lipidosis, egg yolk coelomitis, lipomas, liposarcomas, xanthomas and xanthogranulomas. This
Hodias S. Oliveira-Filho +5 more
doaj +1 more source

