OBJECTIVE: The aim of this study was to investigate the presence of growth hormone receptor in plexiform neurofibromas of neurofibromatosis type 1 patients.
Karin Soares Gonçalves Cunha +2 more
doaj +1 more source
Bilateral diffuse choroidal hemangioma in Sturge Weber syndrome: a case report highlighting the role of multimodal imaging and a brief review of the literature [PDF]
Purpose: The purpose of this paper is to present a patient with bilateral choroidal hemangioma in Sturge-Weber syndrome (SWS) and highlight multimodal imaging techniques for early detection and management of ocular alterations.
Abdolrahimzadeh +76 more
core +1 more source
Attrition in Cochlear Implant Research: Sociodemographic, Audiologic, and Performance Variables
In a retrospective review of attrition patterns for participants in a clinical research study, sociodemographic variables were not significantly different between those who elected to withdraw and those who completed the study. Those in the withdrawal group had poorer low‐frequency residual hearing, were less likely to be electric‐acoustic stimulation ...
Amanda D. Sloop +5 more
wiley +1 more source
Neurofibromatosis type 1: Surgical Perspectives
Introduction: Neurofibromatosis type 1 (NF1) affects about 1 in 3000 people. The indications for surgical intervention in patients with NF1 are not always clear-cut.
Nthumba PM, MMed(Surg),FCS(ECSA), Plastic Surgery Fellowship +1 more
doaj
Anesthetic consideration in a preeclamptic parturient with Von Recklinghausen′s neurofibromatosis
Neurofibromatosis is a multisystem genetic disorder that is associated with cutaneous, neurologic and orthopedic manifestations. Type 1 neurofibromatosis is characterized by dermatological lesions, such as benign neurofibromas of the skin and cafι-au ...
Tarandeep Singh +4 more
doaj +1 more source
ABSTRACT Background Epidural analgesia is commonly used for pain control after major lower‐limb orthopedic surgery in children, but it is associated with a risk of postoperative urinary retention. Consequently, urinary catheters are often placed and left in situ for the full duration of epidural analgesia, despite the potential risks of prolonged ...
Idan Katz +6 more
wiley +1 more source
Why a diagnosis of neurofibromatosis calls for the attention of a deaf educator [PDF]
This paper will seek to describe neurofibromatosis (NF), the scope of its impact, how NF relates to hearing loss, and why someone with a teacher of the deaf’s expertise may have information to offer the intervention team for a child diagnosed with ...
López, Lydia Marie
core +1 more source
Neurofibromin knockdown in glioma cell lines is associated with changes in cytokine and chemokine secretion in vitro. [PDF]
The neurofibromin-1 tumor suppressor gene (NF1) is altered in approximately 20% of sporadic glioblastoma (GBM) cases. NF1 deficient GBM frequently shows a mesenchymal gene expression signature, suggesting a relationship between NF1 status and the tumor ...
Mukherjee, Joydeep +2 more
core +3 more sources
Neurofibromatosis Type 1 in the Mandible
Neurofibromatosis type 1 (NF1) was first described in 1882 as a hamartomatous disorder of neural crest derivation. We present the imaging of a 65-year-old woman with NF1. Computed tomography revealed that there were three major findings presented: skeletal deformity, an area of fat (probably related to mesodermal dysplasia), and benign neoplasm within ...
Uchiyama, Yuka +6 more
openaire +3 more sources
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source

