Results 101 to 110 of about 44,772 (247)

Neurofibromatosis tipo 1

Ateneo
Introducción: La neurofibromatosis tipo 1 o NF1 pertenece al grupo de las Rasopatías que son un grupo de enfermedades que se caracterizan por mutaciones de los genes que codifican de las vías Ras/MAPK, localizado en el cromosoma 17q11.2, provocando un ...
Javier Aquiles Hidalgo Acosta, Wagnner Ariol Intriago Zambrano, Grace Gabriela Loor Ordóñez, Israel Luis Villavicencio Quevedo, Joanna Patricia Moreno Garzón   +4 more
doaj  

Lymphangiopathy in neurofibromatosis 1 manifesting with chylothorax, pericardial effusion, and leg edema [PDF]

, 2013
Josef Finsterer,1 Claudia Stollberger,2 Elisabeth Stubenberger,3 Sasan Tschakoschian4 1Krankenanstalt Rudolfstiftung, Vienna, Austria; 2Medical Department, Krankenanstalt Rudolfstiftung, Vienna, Austria; 3Thoracic Surgery Department, Vienna, Austria ...
Stubenberger E, Tschakoschian S, Finsterer J, Stollberger C   +3 more
core  

Validation of the German version of Infants and Toddlers Dermatology Quality of Life (InToDermQoL) Questionnaire

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background and Objectives Skin diseases can greatly impair quality of life (QoL) of pediatric patients and their families. The Infants and Toddlers Dermatology Quality of Life questionnaire (InToDermQoL) is the first skin‐generic instrument assessing QoL in children ≤ 4 years, as reported by their caregiver. This study aimed to psychometrically
Juliane Traxler, Neuza da Silva Burger, Matthias Augustin, Hagen Ott, Sanna Hoffmann, Regina Fölster‐Holst, Maria Baumeister, Petra Staubach, Rachel Sommer   +8 more
wiley   +1 more source

A Case of Neurofibromatosis Type 1 Complicated with Repeated Intracerebral Hemorrhage due to Quasi-Moyamoya Disease [PDF]

, 2015
Moyamoya disease (MMD) is a unique occlusive disease of the bilateral internal carotid arteries with moyamoya vessels. Inherited or acquired disorders and conditions may present in conjunction with MMD. This condition is known as quasi-MMD.
Izumo, Tsuyoshi, Morofuji, Yoichi, Hayashi, Kentaro, Horie, Nobutaka   +3 more
core   +1 more source

Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children

Developmental Medicine &Child Neurology, EarlyView.
In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng, Bahda Hoang, Meaghan Rubsam, Gabriela Lopez, Megan K. O'Brien, Theresa Sukal‐Moulton, Barbara Sargent, Colleen Peyton, Elizabeth Hoffman, Samuel Carey, Nicole Pouppirt, Raye‐Ann de Regnier, John A. Rogers, Richard L. Lieber, Arun Jayaraman   +14 more
wiley   +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

Arterial hypoplasia in neurofibromatosis 1 [PDF]

, 2007
We describe the case of a 14-year-old boy with neurofibromatosis 1, associated with multiple abnormalities on the right side, namely hypoplasia of both limbs with long bone malformations, hypoplasia of the iliac, femoral and popliteal arteries without ...
A. Costantini, A. Selicorni, L. Menegazzo, L.N. Rossi, E. Fossali   +4 more
core  

Selumetinib as a Target Therapy in Progressive Paediatric Low‐Grade Gliomas—Case Series (pLGG)

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background Optic pathway gliomas (OPGs) occur in 15%–20% of children with neurofibromatosis type 1 (NF1). While smaller gliomas may be only monitored, the current standard of care for symptomatic ones relies on chemotherapy, most commonly carboplatin and vincristine.
Laura Trapani, Giulia Gortani, Andrea Magnolato, Flora Maria Murru, Elisabetta Cattaruzzi, Laura Diplotti, Paola Michieletto, Silvia Giganti, Davide Zanon, Alessandra Maestro, Valentina Kiren, Egidio Barbi, Irene Bruno   +12 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

Building a precision therapeutics program at a tertiary care children's hospital

Pediatric Investigation, EarlyView.
Luke Hamilton, Heidi Trinkman, Diana Carrasco, Kaitlin Smith, Kelly Vallance, Alejandra Dominguez, Danielle Miller, Megan Gibbs, Anish Ray   +8 more
wiley   +1 more source