Results 61 to 70 of about 32,341 (221)

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

Diagnostic and therapeutic process of neurofibromatosis type 1 and type 2

Journal of Education, Health and Sport
Neurofibromatosis is one of the most common genetic diseases. It is inherited in an autosomal dominant manner. It is divided into two genetically distinct subtypes, characterised by multiple skin lesions and tumours of the peripheral and central nervous 
Michał Leśniewski, Iwona Welian-Polus, Izabela Oleksak, Karolina Maliszewska   +3 more
doaj   +1 more source

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

MEK inhibitors - novel targeted therapies of neurofibromatosis associated benign and malignant lesions

Biomarker Research, 2021
MAP/ERK kinase 1 and 2 (MEK 1/2) inhibitors (MEKi) are investigated in several trials to treat lesions that arise from pathogenic variants of the Neurofibromatosis type 1 and type 2 genes (NF1, NF2).
Anja Harder
doaj   +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

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

Neurofibromatosis Type 2 Presenting with Oculomotor Ophthalmoplegia and Distal Myopathy

Case Reports in Ophthalmological Medicine, 2016
Neurofibromatosis type 2 usually presents with bilateral acoustic schwannomas. We highlight the rare presentation of neurofibromatosis initially involving third nerve.
Jessica Mani Penny Tevaraj, Evelyn Tai Li Min, Raja Azmi Mohd Noor, Azhany Yaakub, Wan Hazabbah Wan Hitam   +4 more
doaj   +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

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

Clinical diagnosis and treatment of bitaleral acoustic neurofibromatosis type 2: a retrospective analysis of 4 patients [PDF]

Jichu yixue yu linchuang, 2020
Objective To investigate the diagnosis and treatment of neurofibromatosis type2(NF2). Methods The clinical manifestations, magnetic resonance imaging(MRI) findings, and treatment of 4 patients with surgically and pathologically-confirmed NF2 ...
YANG Chang-li, TU Guo-long, XIA Ying
doaj