Results 71 to 80 of about 16,386 (154)

Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine [PDF]

, 2015
Malignant peripheral nerve sheath tumors (MPNSTs) are soft-tissue sarcomas that can arise either sporadically or in association with neurofibromatosis type 1 (NF1).
Adriana López‐Doriga, Alberto Villanueva, August Vidal, Bernat Gel, Conxi Lázaro, Diana Pérez‐Sidelnikova, Eduard Serra, Ernest Terribas, Ferner RE, Gabriel Capellá, Guha A, Ignacio Blanco, Javier García‐del Muro, Joan Castellsagué, Joan Maria Viñals, Juana Fernández‐Rodríguez, Miguel Angel Pujana, Rafael Valdés‐Mas, Roger Llatjós, Turk AN, Xose S Puente, Yolanda Benavente   +21 more
core   +2 more sources

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

CHARACTERISTICS OF INDIVIDUALS UNDERGOING PANEL GENETIC TESTING FOR PRIMARY BRAIN TUMORS [PDF]

, 2018
Background. Currently, there are no genetic testing guidelines for patients with a primary brain tumor (PBT). This population is largely understudied in terms of the family history, tumor grade, pathology, and their relation to genetic contribution.
Azam, Sarah
core   +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

Pediatric neurofibromatosis 1 and parental stress: a multicenter study [PDF]

, 2014
Background: Neurofibromatosis 1 (NF1) is a complex and multifaceted neurocutaneous syndrome with many and varied comorbidities. The literature about the prevalence and degree of maternal stress and the impact of NF1 in the parent–child interaction is ...
Carotenuto, M., Esposito, M, Gallai, B, Lavano, SM, Marotta, R, PARISI, Lucia, ROCCELLA, Michele   +6 more
core   +2 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

Pancreatic Neuroendocrine Tumor Leading to a Diagnosis of Multiple Endocrine Neoplasia Type 1

DEN Open, Volume 6, Issue 1, April 2026.
ABSTRACT Pancreatic neuroendocrine neoplasms are rare but occasionally encountered. They are generally highly vascularized solid tumors, often round in shape with clear boundaries, defined contours, and a homogeneous internal structure. However, they can also present with atypical features, such as cystic degeneration, hemorrhage, calcification, and ...
Noriyuki Hirakawa, Katsuya Kitamura, Kei Yamamoto, Kenichi Tadokoro, Yasunosuke Akita, Jun Uemura, Fumito Yamanishi, Masakazu Abe, Munehide Nakatsugawa, Takao Itoi   +9 more
wiley   +1 more source

Socially oriented attention in young children with neurofibromatosis type 1: An eye‐tracking study

Developmental Medicine &Child Neurology, Volume 68, Issue 4, Page 541-548, April 2026.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70050 Abstract Aim To examine visual engagement to social stimuli and response to joint attention in young children with neurofibromatosis type 1 (NF1) and typically developing peers (controls). Method Forty‐five preschool children were studied cross‐sectionally (mean age [SD] = 4 
Kristina M. Haebich, Darren R. Hocking, Hayley Darke, Rachel Mackenzie, Kathryn N. North, Giacomo Vivanti, Jonathan M. Payne   +6 more
wiley   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

How Far Can we Go? Managing Moyamoya Syndrome in a 3‐Year‐Old With Thalassemia Major: A Rare Pediatric Case From Nepal

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Moyamoya syndrome (MMS) is a rare progressive cerebrovascular disorder causing stenosis of intracranial arteries and collateral vessel formation. Pediatric presentations often include ischemic strokes, and coexisting Thalassemia Major may worsen vascular outcomes.
Kshitiz Parajuli, Abhisek Jha, Aron Neupane, Shristi Gupta, Nischal Timsina, Sagar Bhagat, Raja Babu Gupta, Anand Sah, Anup Katwal   +8 more
wiley   +1 more source