Results 101 to 110 of about 62,771 (244)

Neonates born at term with periventricular haemorrhagic infarction: Risk factors and clinical presentation

Developmental Medicine &Child Neurology, EarlyView.
This case series describes infants born near term with periventricular hemorrhagic infarction (PVHI), highlighting seizures as a common early symptom. Neonatal complications during delivery and pro‐thrombotic genetic mutations were slightly more common. MRI‐classified involvement was predominantly in the caudate vein territory.
Aleksandra Zaykova, Jeroen Dudink, Floris Groenendaal, Maarten H. Lequin, Manon J.N.L. Benders, Maria Luisa Tataranno, Elise Roze   +6 more
wiley   +1 more source

Robotic resection for splenic artery aneurysm associated with neurofibromatosis type 1: a case report

Journal of Medical Case Reports
Background Neurofibromatosis type 1 is an autosomal-dominant disease characterized by café-au-lait spots and neurofibromas, as well as various other symptoms in the bones, eyes, and nervous system.
Akihiko Ueda, Kenta Saito, Hiromichi Murase, Tomokatsu Kato, Hiroyuki Imafuji, Mamoru Morimoto, Ryo Ogawa, Hiroki Takahashi, Yoichi Matsuo, Shuji Takiguchi   +9 more
doaj   +1 more source

Detection of severe hypertension in a patient with neurofibromatosis type 1 during anesthesia induction: a case report

Journal of Medical Case Reports, 2019
Background Neurofibromatosis type 1 has a higher prevalence of pheochromocytoma and paraganglioma than the general population: 1.0–5.7% versus 0.2–0.6%.
Juan Wang, Guohua Wei, Zhongyun Wang, He Huang   +3 more
doaj   +1 more source

Neurofibromatosis type 1: Modeling CNS dysfunction [PDF]

, 2012
Neurofibromatosis type 1 (NF1) is the most common monogenic disorder in which individuals manifest central nervous system (CNS) abnormalities. Affected individuals develop glial neoplasms (optic gliomas, malignant astrocytomas) and neuronal dysfunction ...
Gutmann, David H, Parada, Luis F, Ratner, Nancy, Silva, Alcino J   +3 more
core   +2 more sources

Survival impact of second primary cutaneous and non‐cutaneous melanoma in melanoma survivors

Journal of the European Academy of Dermatology and Venereology, EarlyView.
In this US population‐based cohort study, melanoma survivors diagnosed with regional/distant‐stage SPCM or SPNCM had worse survival compared to those with a single melanoma. Abstract Background Melanoma survivors have a high risk of developing second primary neoplasms, both cutaneous melanoma (SPCM) and non‐cutaneous melanoma (SPNCM), but little is ...
Jingjing Xie, Maija Kiuru, Brad H. Pollock, Theresa H. M. Keegan   +3 more
wiley   +1 more source

Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis [PDF]

, 2010
Background Neurofibromatosis type 1 is a common autosomal dominant disorder with full penetrance and variable expression. The condition predisposes individuals to the development of malignant nervous system tumours, most frequently Malignant ...
German Melean, Alba Marina Hernández, María Carmen Valero, Elisabete Hernández-Imaz, Yolanda Martín, Concepción Hernández-Chico   +5 more
core   +1 more source

Global consensus on the management of melanin hyperpigmentation disorders

Journal of the European Academy of Dermatology and Venereology, EarlyView.
A global Delphi consensus of 10 dermatology experts established evidence‐based recommendations for melanin hyperpigmentation disorders, providing unified classification, photoprotection guidance and treatment algorithms. This framework harmonizes terminology and supports individualized management across diverse skin types and health systems.
Thierry Passeron, Seemal R. Desai, Marwa Abdallah, Firas Al‐Niaimi, Ncoza Dlova, Pearl E. Grimes, Jorge Ocampo‐Candiani, Rashmi Sarkar, Leihong Flora Xiang, Helio Amante Miot   +9 more
wiley   +1 more source

Endoscopic Ultrasound for the Management of Pancreatic Neuroendocrine Tumors: Diagnosis, Treatment, and Future Perspectives

Journal of Gastroenterology and Hepatology, EarlyView.
ABSTRACT Pancreatic neuroendocrine tumors (PanNETs) are increasingly diagnosed, reflecting greater clinical awareness, improved imaging, and revised classification. This review summarizes evidence on epidemiology, diagnostic workup, and endoscopic ultrasound (EUS)–guided management of PanNETs, encompassing diagnostic evaluation, tissue acquisition, and
Angelo Bruni, David Meacci, Roberto Falbo, Marco Fichera, Francesco Poggioli, Riccardo Casadei, Claudio Ricci, Leonardo Henry Eusebi   +7 more
wiley   +1 more source

Neurofibromin knockdown in glioma cell lines is associated with changes in cytokine and chemokine secretion in vitro. [PDF]

, 2018
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, Pieper, Russell O, Wood, Matthew D   +2 more
core   +3 more sources

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source