Results 71 to 80 of about 54,719 (217)

Neurofibromatosis Type 1 with Bladder Involvement

Case Reports in Urology, 2013
Neurofibromatosis type 1 is an autosomal dominant transmitted disease with various clinical manifestations. The bladder is the most commonly affected organ in the genitourinary system.
Iyimser Üre, Serhat Gürocak, Ipek Isik Gönül, Sinan Sözen, Nuri Deniz   +4 more
doaj   +1 more source

Febrile status epilepticus and epileptogenesis: The FEBSTAT study

Epilepsia Open, EarlyView.
Abstract The multicenter FEBSTAT study (Consequences of Prolonged Febrile Seizures in Childhood: https://grantome.com/grant/NIH/R37‐NS043209‐12; PI S. Shinnar) examined the outcome of febrile status epilepticus (FSE) in over 200 prospectively enrolled infants, with many followed for 10 years after FSE.
Darrell V. Lewis, Douglas R. Nordli Jr., Douglas R. Nordli III, Shlomo Shinnar, Stephen Chan, Jacqueline A. Bello, L. Matthew Frank, James Voyvodic, William Gallentine, Syndi Seinfeld, Yoshimi Sogawa, Erica Weiss, David Masur, Yuan Xu, Solomon L. Moshé   +14 more
wiley   +1 more source

Macrocephaly in neurofibromatosis type 1: a sign post for optic pathway gliomas? [PDF]

, 2018
Purpose: Optic pathway gliomas, which occur in 15-20% of paediatric patients with neurofibromatosis type 1, are the most common central nervous system tumour associated with this neurocutaneous disorder.
Diepold, Miriam, Fleischhauer, Johannes, Goeggel Simonetti, Barbara, Nauer, Claude, Schindera, Christina, Steinlin, Maja, Wingeier, Kevin   +6 more
core  

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]

, 2019
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, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Amirikia, Anand, Arora, Avery, Barbazetto, Boltshauser, Comi, Comi, Cruciani, Cunha e Sá, Curcio, Fenicia, Ferry, Gass, Giovannini, Gottlieb, Griffiths, Gunduz, Harris, Iwach, Kardon, Kashani, Kaushik, Kissel, Kivela, Kjeka, Kranemann, Lambiase, Lindsey, Linsenmeier, Luke, Madreperla, Mannino, Mantelli, Marana Perez, Maruyama, Muci Mendoza, Nema, Parsa, Patrianakos, Paulus, Pearce, Phelps, Recupero, Riley, Rodriguez Bujaldon, Schirmer, Scott, Scott, Sharan, Shields, Shields, Shin, Shirley, Singh, Sturge, Sujansky, Sullivan, Tanwar, Thomas-Sohl, Waelchli, Walter, Witschel, Wong, Worster Drought, Zallmann, Ziemssen, Zografos, Zografos   +76 more
core   +1 more source

Dietary and biomarker‐guided strategies as supportive measures in the fragile X syndrome

Food Biomacromolecules, EarlyView.
Abstract The fragile X syndrome (FXS) is an inherited neurodevelopmental disorder that primarily affects males, often resulting in an IQ below 55, while about two‐thirds of females also experience intellectual disability. Physical features may include an elongated face, prominent ears, finger joint laxity, and enlarged testes in males.
Jailan E. El Halawani, Reem R. AlOlaby
wiley   +1 more source

Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: Is it Necessary to Evaluate Autoimmune Thyroiditis in Neurofibromatosis Type 1?

Balkan Medical Journal, 2017
Background: Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder in which the coexistence of autoimmune thyroiditis and thyroid gland tumours has been reported previously.
Serhat Güler, Gözde Yeşil, Hasan Önal   +2 more
doaj   +1 more source

Bullous lung disease and neurofibromatosis type-1. [PDF]

, 2012
Lung interstitial diseases and bullae are described as possible complications of neurofibromatosis type-1 (NF-1), a genetic disorder inherited as a autosomal-dominant trait.
Castiglioni M, Di Natale D, Imperatori A, Nardecchia E, Perfetti L, Rotolo N.   +5 more
core  

Infant frontal alpha asymmetry predicts social attention and transdiagnostic risk for emotional reactivity

JCPP Advances, EarlyView.
Abstract Background Differences in Frontal Alpha Asymmetry (FAA), derived from the electroencephalogram (EEG), have been associated with approach‐withdrawal behavior, although inconsistently. The current study examined how early patterns of FAA during the first 2 years of life relate to various socioemotional characteristics (at 2 years) and ultimately
Viviane Valdes, Niccola Lutri, Haerin Chung, Charles A. Nelson   +3 more
wiley   +1 more source

Identification of growth hormone receptor in plexiform neurofibromas of patients with neurofibromatosis type 1

Clinics, 2008
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, Eliane Porto Barboza, Eliene Carvalho da Fonseca   +2 more
doaj   +1 more source

Estrogen activation of microglia underlies the sexually dimorphic differences in Nf1 optic glioma-induced retinal pathology [PDF]

, 2016
Children with neurofibromatosis type 1 (NF1) develop low-grade brain tumors throughout the optic pathway. Nearly 50% of children with optic pathway gliomas (OPGs) experience visual impairment, and few regain their vision after chemotherapy.
Anne C. Solga, Arnold, Avery, Azevedo, Bajenaru, Bondesson, Compton, Daginakatte, Daginakatte, David H. Gutmann, Dennis, Diggs-Andrews, Diggs-Andrews, Fisher, Fisher, Green, Gu, Guadagno, Hegedus, Hyman, Joseph A. Toonen, Kalin-Hajdu, Kappeler, Kuiper, Listernick, Listernick, Neher, Parrilla-Reverter, Revankar, Saijo, Schneider, Simmons, Solga, Tapia-Gonzalez, Tikka, Wu, Yu Ma, Zhao   +37 more
core   +2 more sources