Results 31 to 40 of about 27,819 (238)

Prenatal diagnosis of pericallosal lipoma: Systematic review

open access: yes, 2019
The aim is to present a systematic review of all the published cases of prenatally diagnosed pericallosal lipomas, their features and associations with other anomalies or syndromes and their post-natal evolution.
Joigneau Prieto, Laura   +3 more
core   +1 more source

Determining the optimal timing of screening spinal cord ultrasonography to detect filum terminale lipoma in infants [PDF]

open access: yesUltrasonography, 2020
Purpose The purpose of this study was to identify the optimal timing for screening spinal cord ultrasonography (US) to detect filum terminale lipoma in infants. Methods We retrospectively reviewed infants (
Salman S. Albakheet   +9 more
doaj   +1 more source

Endobronchial lipoma

open access: yes, 2022
Endobronchial lipomas are rare benign lung tumors that can cause bronchial obstruction and parenchymal damage. While an uncommon etiology, they are often misdiagnosed due to a clinical presentation similar to obstructive pulmonary pathologies such as ...
Anbazhakan, Lakshitha   +20 more
core   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli   +18 more
wiley   +1 more source

Endoscopic En-Bloc Resection of Lipoma of the Tibialis Anterior Tendon

open access: yesArthroscopy Techniques, 2023
Lipoma is benign soft-tissue tumor that consists entirely of mature fat and can occur in a superficial or deep location. Lipoma of the foot and ankle can even develop within a tendon sheath or joint.
On Fai Arthur Woo, M.B.Ch.B. (Glasg.), B.Sc. (Med. Sci.), M.R.C.S. (Glasg.)   +1 more
doaj   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Frontal parosteal lipoma with thickening of diploic space

open access: yesJPRAS Open, 2015
Parosteal lipoma is a rare benign tumor that is composed mainly of benign mature lipocytes, and it has an intimate association with the underlying affected bone.
Tsuyoshi Morishita   +7 more
doaj   +1 more source

Intramuscular Lipoma of the Pectoralis Major Simulating a Breast Lump [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2019
Intramuscular lipoma is a deep-seated lipoma that arises in the muscle and is benign and relatively rare. Intramuscular lipomas of the pectoralis major muscle have been reported to mimic malignant breast tumours.
Rajendra Benakatti   +2 more
doaj   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

open access: yesAnimal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang   +14 more
wiley   +1 more source

Pomaded and unctuous- spindle cell lipoma

open access: yes, 2023
Spindle cell lipoma and pleomorphic lipoma emerge as benign, adipocytic neoplasms representing a morphologic continuum of a singular neoplasm. In addition to myofibroblastoma and cellular angiofibroma, spindle cell lipoma or pleomorphic lipoma configures
Anubha Bajaj*
core   +1 more source

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