Results 31 to 40 of about 34,976 (197)

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Decreased PP2A expression and activity represent a therapeutic target for plexiform neurofibroma

Acta Neuropathologica Communications
In neurofibromatosis type 1 (NF1), loss-of-function mutations in the NF1 gene increase activation of the RAS–MEK–ERK signaling cascade, driving tumorigenesis. MEK inhibitors (MEKi) inhibit tumor growth and significantly shrink nerve tumors (neurofibromas)
Minghui Yue, Yixiao Wang, Jiabao Gu, Cheng Zhang, Yang Chen, Aruna Gao, Kwangmin Choi, Zhaoming Wu, Zhichao Wang, Jay Pundavela, Nancy Ratner, Yanan Yu   +11 more
doaj   +1 more source

Evaluating discrepancies between high‐yield neuroscience conditions in preclerkship medical education and national clinical incidence

Anatomical Sciences Education, EarlyView.
Abstract Medical education must balance foundational science with clinical relevance. Increasing emphasis on standardized assessments has led to prioritization of “high‐yield” conditions—those most likely to be assessed. Subsequently, educators and students often prioritize these conditions.
Kathryn Veazey, Oheneba Boadum
wiley   +1 more source

Neurofibromatosis Type 1 in the Mandible

Annals of Maxillofacial Surgery, 2018
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, Sumi, Tetsuro, Marutani, Keisuke, Takaoka, Hiroo, Murakami, Shumei, Kameyama, Hiroyasu, Yura, Yoshiaki   +6 more
openaire   +3 more sources

Phenotypic characterization of neurofibromatosis type 1 in a large Chinese cohort: A cross-sectional studyCapsule Summary

JAAD International
Background: Neurofibromatosis type 1 (NF1) is a multisystemic genetic disorder characterized by NF1 gene mutations. The well-described manifestations of NF1 are primarily derived from European populations.
Zhichao Wang, MD, Xing Hu, MD, PhD, Haoyang Mo, MD, Minxue Shen, PhD, Carlos G. Romo, MD, PhD, Katya Vera, BA, Zhixiong Liu, MD, PhD, Qingfeng Li, MD, PhD, Chuntao Li, MD, PhD, Kavita Y. Sarin, MD, PhD   +9 more
doaj   +1 more source

Type 1 neurofibromatosis with periodontal manifestations

Indian Journal of Dental Sciences, 2016
Neurofibromatosis type 1 (NF1) also known as von Recklinghausen's disease is an autosomal dominant disease transmitted with a high degree of penetrance. The disease is expressed in different forms.
Pramod Kumar, Akshay Dhobley, Harshal Kumar, Sandeep Jain   +3 more
doaj   +1 more source

Regulatory harmonization: Evolution, globalization and future directions

British Journal of Clinical Pharmacology, EarlyView.
Regulatory harmonization has become an increasingly important and accepted approach to streamline regulatory review processes and expedite access to safe, effective and high‐quality medicines globally. This review explores the evolution and current status of regulatory harmonization, convergence and reliance initiatives.
Orin Chisholm, Elaine Y. L. Blair, Christine Y. Lu   +2 more
wiley   +1 more source

High axial myopia in neurofibromatosis type 1

Indian Pediatrics Case Reports, 2021
Background: Clinicians must be aware of phenotypic variability in neurofibromatosis type 1 (NF 1) presentations. There is perhaps a limited understanding on progression of NF 1 in prepubertal years and the subsequent threat to vision.
Rajiv Garg, Siddharth Madan, Nisha Yadav, Rekha Yadav   +3 more
doaj   +1 more source

Maximizing Neurovascular Outcomes of Facial Transplantation: A Comprehensive Review

Clinical Anatomy, EarlyView.
ABSTRACT Facial transplantation is a division of reconstructive surgery which aims to improve the function and appearance of a face that has endured severe disfigurement. Currently, the face transplant procedure uses allogenic tissue, harvested from a brain‐dead donor, to replace damaged facial components.
Olivia A. James, Faye Bennett
wiley   +1 more source