Results 61 to 70 of about 55,390 (242)
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio +11 more
wiley +1 more source
Ibom Medical Journal, 2022 Plexiform neurofibromatosis is reported to occur in 26.7% of patients with type I neurofibromatosis. Plexiform neurofibromas present at, or soon after, birth as areas of hyperpigmentation, thickening of the skin and excess hair.
Udeagu GC, Njeze NR, Ukwuaku CC
doaj +1 more source
International Journal of Surgical Pathology, 2002 In 1999, Spatz et al. reported the first 2 cases of a plexiform variant Spitz nevus. We describe another case of this variant on the upper thigh of a 10-year-old boy and dis cuss the differential diagnosis. Histologically, it comprised nodules of epithelioid cells with a plexiform arrangement distributed throughout the superficial and deep der mis ...
Clarke, B, Essa, A, Chetty, R
openaire +3 more sources
Animal Models and Experimental Medicine, EarlyView.We developed an animal model of early diabetic retinopathy (DR) in the tree shrew by feeding a high‐fat and high‐sugar diet in combination with STZ. Physiological and biochemical index detection, hematoxylin and eosin staining, and transmission electron microscopy were performed to examine DR.
Min Qiu +10 more
wiley +1 more source
Profile of Ameloblastoma from a Retrospective Study in Jakarta, Indonesia
Journal of Dentistry Indonesia, 2013 Ameloblastoma is an odontogenic tumor occurring mostly in mandible. Objective: the purpose of the study was to find out the distribution and frequency of the most common histopathological type and pattern of ameloblastoma, the percentage of ameloblastoma
Rusdiana Rusdiana +3 more
doaj +1 more source
Case Reports in Women's Health, 2022 Leiomyomas are the most common benign smooth muscle tumors of the female genital tract. Among the recognized histologic variants, one of the least common is plexiform leiomyoma.
Nektarios Koufopoulos +4 more
doaj +1 more source
Annals of Neurology, EarlyView.The role of microglia has emerged as a critical driver of disease progression in multiple sclerosis (MS), but we lack broadly applicable monitoring tools. Here, we investigated whether hyperreflective foci (HRF), as detected by optical coherence tomography (OCT) within the inner nuclear layer (INL) of the retina, can be used as a marker for microglial ...
Jonathan A. Gernert +13 more
wiley +1 more source
Imaging spectrum of neurofibromatosis
Journal of Mahatma Gandhi Institute of Medical Sciences, 2015 Neurofibromatosis (NF) belongs to the group of phakomatoses characterized by benign tumors of peripheral nerves seen either due to spontaneous new mutations or due to genetic inheritance. It affects 1:2500-3000 individuals.
Binit Sureka +4 more
doaj +1 more source
The Anatomical Record, EarlyView.Osteohistological sampling on different bones of theropod dinosaur documents discrepant age record, growth, and metabolism. This could result unprecise paleobiological inferences if samplings are based on single bones. However, multi‐bone sampling can attenuate these discrepancies, helping to infer growth dynamics and physiology of these extinct ...
Geovane Alves de Souza +3 more
wiley +1 more source