Results 71 to 80 of about 86,851 (276)

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Role of cortical sparing adrenalectomy and novel variant of mutation in patient with von Hippel-Lindau disease

Indian Journal of Endocrinology and Metabolism, 2011
Neurofibromatosis type 1 is the most common phakomatoses and is inherited in autosomal dominant fashion with complete penetrance. Secondary hypertension is common in these patients due to various causes including adrenal tumors.
Ranil Johann Boaz, Pooja Ramakant, Andrew Ebenazer, Rekha Pai, Simon Rajaratnam, Deepak Abraham, M J Paul   +6 more
doaj   +1 more source

Segmental neurofibromatosis with compression of the spinal cord at the cervical level. Literature review and case report

Сибирский онкологический журнал, 2022
Background. Neurofibromatosis is a fairly rare disease (1/3000). In 1992, V. Riccardi described seven types of neurofibromatosis. Segmental neurofibromatosis (sh), also known as type V neurofibromatosis, is an extremely rare variant characterized by the ...
D. A. Gulyaev, I. Yu. Belov, D. V. Nizolin, L. B. Mitrofanova, N. A. Primak, D. S. Godanyuk, I. A. Kurnosov   +6 more
doaj   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Optic nerve sheath diameter measurements monitor the impact of venous sinus stenosis and surgery on intracranial pressure in NF2 meningioma patients

Scientific Reports
The study aimed to evaluate intracranial pressure (ICP) in NF2-associated meningiomas using perioperative optic nerve sheath diameter (ONSD) measurements.
Julian Zipfel, Mykola Gorbachuk, Florian Grimm, Ulrike Ernemann, Martin Ulrich Schuhmann, Marcos Tatagiba, Isabel Gugel   +6 more
doaj   +1 more source

A conserved circadian function for the Neurofibromatosis 1 gene [PDF]

, 2018
Summary: Loss of the Neurofibromatosis 1 (Nf1) protein, neurofibromin, in Drosophila disrupts circadian rhythms of locomotor activity without impairing central clock function, suggesting effects downstream of the clock.
Bai, Lei, Cavanaugh, Daniel, Gutmann, David H, Haynes, Paula, Hsu, Cynthia T, Lee, Yool, Sehgal, Amita, Stein, Carly, Wang, Han, Williams, Julie A, Zheng, Xiangzhong   +10 more
core   +3 more sources

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

Cerebral venous sinus thrombosis manifesting as chronic spontaneous subdural hematoma: case report and review of the literature

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery
Background Cerebral venous sinus thrombosis (CVST) is a rare form of stroke that is mainly seen in young women. It is frequently associated with hemorrhagic venous infarction and subarachnoid hemorrhage.
Fares Laouar, Yasser Brahmia, Lotfi Boublata   +2 more
doaj   +1 more source

A case of familial neurofibromatosis in pediatric practice

Alʹmanah Kliničeskoj Mediciny, 2018
The article describes a  clinical case of familial neurofibromatosis. Neurofibromatosis type  1 was diagnosed in a 9-year old patient according to diagnostic criteria by the International Expert Committee on Neurofibromatosis, based on two criteria: 2 or
N. I. Zryachkin, T. N. Buchkova, G. I. Chebotareva, N. B. Styazhkina   +3 more
doaj   +1 more source

Reproducibility of cognitive endpoints in clinical trials: Lessons from neurofibromatosis type 1 [PDF]

, 2019
OBJECTIVE: Rapid developments in understanding the molecular mechanisms underlying cognitive deficits in neurodevelopmental disorders have increased expectations for targeted, mechanism-based treatments.
et al,, Gutmann, David H, Payne, Jonathan M   +2 more
core   +1 more source