Results 61 to 70 of about 36,792 (224)

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

The Journal of Dermatology, EarlyView.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source

Alert Cards to improve awareness of an otological emergency

BMJ Open Quality, 2021
Dorothy Halliday, Joshua James Brown, Anne May, Rose Crabtree, Beatrice Emmanouil, Allyson Parry, Samuel Mackeith   +6 more
doaj   +1 more source

Meningioangiomatosis Without Neurofibromatosis Type 2

World Journal of Oncology, 2012
Meningioangiomatosis (MA) is a rare, benign hamartomatous lesion found in cerebral cortex and leptomeninges. It occurs mostly in 5 - 15 year old children in form isolated or diffuse; the diffuse form may be associated with neurofibromatosis type 2 (NF2).
Marzi S, De Paulis D, Ricci A, Taddei G, Raysi DS, Coletti G, Maselli G, GALZIO, RENATO   +7 more
openaire   +4 more sources

Case Report of Maxillary Alveolar Rhabdomyosarcoma Misdiagnosed as Periapical Lesion: Clinicopathological Alerts and Life‐Saving Lessons for Dentists

Australian Endodontic Journal, EarlyView.
ABSTRACT This report describes a rare case of alveolar rhabdomyosarcoma initially presenting with clinical features resembling an endodontic lesion. A 15‐year‐old male presented with progressive right maxillary swelling initially treated as a dental abscess.
Saliha Akçay Köprücü, Erdal Rahman Köprücü, Aysun Atasoy Sındıraç, Ümit Çobanoğlu   +3 more
wiley   +1 more source

Optic nerve sheath meningioma exhibits neural niche‐associated transcriptomic features and rare copy number variation‐linked evolution

Brain Pathology, EarlyView.
Optic nerve sheath meningiomas are typically NF2‐intact with few copy number alterations and are generally clinically indolent. Rare aggressive recurrences are associated with progressive accumulation of copy number variations, including CDKN2A/B homozygous deletion, 1q gain, and 14q loss.
Daisuke Sato, Satoru Miyawaki, Yu Sakai, Kenta Ohara, Yu Teranishi, Yudai Hirano, Motoyuki Umekawa, Takahiro Tsuchiya, Shotaro Ogawa, So Hirata, Hiroki Hongo, Hideaki Ono, Daisuke Komura, Tetsuo Ushiku, Shumpei Ishikawa, Nobuhito Saito   +15 more
wiley   +1 more source

Vestibular schwannoma associated with neurofibromatosis type 2: Clinical course following stereotactic radiosurgery [PDF]

, 2022
Junhyung Kim, Yukyeng Byeon, Sang Woo Song, Young Hyun Cho, Chang‐Ki Hong, Seok Ho Hong, Jeong Hoon Kim, Do Heui Lee, Ji Eun Park, Ho Sung Kim, Young-Hoon Kim   +10 more
openalex   +1 more source

Precision Oncology for Pediatric Solid Tumors Using In‐Hospital Pediatric/AYA Malignancy‐Specific Panel Sequencing

Cancer Science, EarlyView.
Our findings indicate that a pediatric/AYA‐specific targeted panel deployed in a hospital can deliver rapid, clinically actionable molecular insights with high diagnostic and prognostic yield. This complements larger sequencing platforms by offering speed, focused content, and easier interpretation.
Masato Kojima, Sho Kurihara, Isamu Saeki, Ryo Touge, Keigo Nakashima, Shuhei Karakawa, Fumiyuki Yamasaki, Satoshi Okada, Eiso Hiyama   +8 more
wiley   +1 more source

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

Rare triad of periampullary carcinoid, duodenal gastrointestinal stromal tumor and plexiform neurofibroma at hepatic hilum in neurofibromatosis type 1: a case report

BMC Cancer, 2017
Background Neurofibromatosis type 1 is a relatively common inherited disorder. Patients with neurofibromatosis type 1 are at high risk of developing neurogenic, neuroendocrine and mesenchymal intra-abdominal tumors.
Nihed Abdessayed, Rahul Gupta, Sarra Mestiri, Ahlem Bdioui, Mounir Trimech, Moncef Mokni   +5 more
doaj   +1 more source

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

Developmental Medicine &Child Neurology, EarlyView.
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