Results 41 to 50 of about 30,032,344 (197)

A Rare Cause of Pheochromocytoma; Neurofibromatosis Type 1-Noonan Syndrome

, 2014
Neurofibromatosis (NF) Type 1 (NF-1) is an autosomal dominant disease with a prevalence of about 1/3000. NF-1 is a neurocutaneous syndrome characterized by cafe au lait macules, neurofibroma, optic glioma, lisch nodules, and symptoms involving other ...
Ersen Karakılıç, Mehtap Navdar Başaran, Mazhar Müslüm Tuna, Berçem Ayçiçek Doğan, Büşranur Çavdarlı, Yasemin Tütüncü, Serdar Güler, Dilek Berker   +7 more
core   +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 [PDF]

, 2020
Neurofibromatosis, one of the most common genetic disorders, is a group of three conditions—Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis—that share some clinical features, such as the presence of cranial and spinal nerve sheet tumors ...

core   +2 more sources

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

An isolated colonic neurofibroma: A rare colonic neoplasm. Case report with clinicopathologic features and review of literature

Human Pathology Reports, 2022
Neurofibromas of the large bowel are very rare and usually observed in the colonic region in neurofibromatosis type 1 (Von Recklinghausen’s disease).
Mukund Tinguria
doaj   +1 more source

Caracterización clínica de pacientes con neurofibromatosis segmentaria Clinical characterization of patients with segmental neurofibromatosis

Revista de Ciencias Médicas de Pinar del Río, 2012
La neurofibromatosis tipo 1 es la enfermedad monogénica más frecuente en la especie humana. En su clasificación se describe la variante segmentaria como forma clínica especial, poco frecuente, caracterizada por máculas "café con leche" o neurofibromas ...
Miladys Orraca Castillo, Anitery Travieso Téllez   +1 more
doaj  

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

Rhegmatogenous Retinal Detachment with Spontaneous Dialysis of the Ora Serrata in Neurofibromatosis Type 1: A Case Report

Journal of Nepal Medical Association, 2022
Neurofibromatosis type 1 is a genetic disorder that follows an autosomal dominant pattern of inheritance. Ocular involvement is not uncommon, but spontaneous dialysis of the retina in the absence of a history of trauma is a rare clinical entity.
Richa Makaju Shrestha, Swechha Bhatt, Pooja Shrestha, Prakash Sapkota, Rajani Keshari, Anu Manandhar, Iwa Bhattarai   +6 more
doaj   +1 more source

The association between neural crest‐derived glia and melanocyte lineages throughout development and disease

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley   +1 more source

Legius syndrome in fourteen families [PDF]

, 2010
Legius syndrome presents as an autosomal dominant condition characterized by café-au-lait macules with or without freckling and sometimes a Noonan-like appearance and/or learning difficulties.
Denayer, E, Oostenbrink, R., Legius, E, Eric Legius, Van Minkelen, R, Lakeman, P, Rick Van Minkelen, Beert, E, Van Spaendonck-Zwarts, KY, Goede-Bolder, A. de, Peltonen, S., Van den Ouweland, AM, Spaendonck-Zwarts, KY, Brice, Glen, Ellen Denayer, Van den Ouweland, Ans Mw, Chmara, Magdalena, Bolder, A, Peltonen, Sirkku, Mori, T., Rankin, J., van den Ouweland, Ans, Peltonen, S, Brice, G., Brice, G, Brems, H, Ouweland, A.M.W. van den, Van den Ouweland, Ans M. W., Rankin, Julia, Bever, Yolande, Brems, Hilde, Spaendonck-Zwarts, K.Y. van, Julia Rankin, Kievit, Anneke Maat, Oostenbrink, Rianne, Eline Beert, Karin Y Van Spaendonck-Zwarts, van Bever, Yolande, Keymolen, K., Anneke Maat Kievit, Kievit, A.M., Mangold, Elisabeth, Yolande van Bever, Lakeman, Phillis, Mori, T, Arja de Goede-Bolder, Ans MW Van den Ouweland, Ende, J. van der, Phillis Lakeman, Beert, E., Legius, E., Sirkku Peltonen, Keymolen, Kathelijn, Magdalena Chmara, van Bever, Y., van der Ende, J., Ishizaki, Takuma, Mangold, E, Yoshimura, Akihiko, Van Minkelen, Rick, Beert, Eline, Keymolen, K, Legius, Eric, van Minkelen, R., Ishizaki, T., Kievit, AM, Glen Brice, Rianne Oostenbrink, van Spaendonck-Zwarts, K.Y., de Goede-Bolder, A, Denayer, Ellen, Akihiko Yoshimura, Chmara, M., Yoshimura, A, Jenneke Van den Ende, van den Ouweland, A.M.W., Denayer, E., Van Spaendonck-Zwarts, Karin Y., Van den Ende, Jenneke, Lakeman, P., Mangold, E., de Goede-Bolder, A., van Bever, Y, Van den Ende, J, Yoshimura, A., de Goede-Bolder, Arja, Elisabeth Mangold, Takuma Ishizaki, Maat-Kievit, Anneke, Bever, Y. van, Oostenbrink, R, Hilde Brems, Maat Kievit, A, Mori, Tomoaki, Tomoaki Mori, Chmara, M, Kathelijn Keymolen, Minkelen, R. van, Rankin, J, Ishizaki, T, De Goede, Arja, Van Spaendonck, Karin Y., Van Minckelen, Rick, et al., Van Den Ouweland, Ans M.W.   +104 more
core   +1 more source