Results 101 to 110 of about 87,754 (311)

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

Characterizing the immune microenvironment of malignant peripheral nerve sheath tumor by PD-L1 expression and presence of CD8+ tumor infiltrating lymphocytes. [PDF]

, 2016
BackgroundMalignant peripheral nerve sheath tumor (MPNST) is an aggressive sarcoma with few treatment options. Tumor immune state has not been characterized in MPNST, and is important in determining response to immune checkpoint blockade.
Bernthal, Nicholas, Chmielowski, Bartosz, Crompton, Joseph G, Dry, Sarah, Eilber, Fritz C, Federman, Noah, Jensen, Sarah, Li, Yunfeng, Nelson, Scott, Shurell, Elizabeth, Singh, Arun S, Tumeh, Paul   +11 more
core   +2 more sources

Losartan Enhances Radiosensitivity by Reversing Immunosuppressive Tumor Microenvironment Induced by Radiotherapy in TNBC

Cancer Science, EarlyView.
Our study demonstrates that the angiotensin receptor blocker losartan enhances the efficacy of radiotherapy in triple‐negative breast cancer by reversing the immunosuppressive tumor microenvironment. Losartan reprograms tumor‐associated macrophages, inhibits myeloid‐derived suppressor cell function, and boosts CD8+ T‐cell activity.
Xu Wang, Cuiwei Liu, Zihan Xia, Ting Hu, Yuting Li, Dan Han, Yunjie Song, Yuxi Ma, Yanxia Zhao   +8 more
wiley   +1 more source

Deep‐Intronic Variant in RUNX2 Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia

Clinical Genetics, EarlyView.
A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic, Dorota Garczarczyk‐Asim, Julia Vodopiutz, Andreas R. Janecke   +3 more
wiley   +1 more source

Surgical excision of Genitourinary neurofibromatosis complicated by enlarged scrotum and penis: A case report

Urology Case Reports
Neurofibromatosis, the most common neurocutaneous syndrome, is characterized by numerous neural crest tumors and abnormal skin pigmentation. Genitourinary neurofibromatosis in children is extremely rare and bladder involvement is relatively common.
Jiaqi An, Jianwei Wang, Zhengqing Bao
doaj   +1 more source

Magnetic Resonance Findings of Neurofibromatosis Type 2: A Case Report [PDF]

, 2022
Khadija Laasri, Salma Marrakchi, Zakia Yousif, Ittimade Nassar, Nabil Moatassim Billah, D Evans, S Huson, D Donnai, W Neary, V Blair, V Mautner, M Tatagiba, M Lindenau, C Fnsterer, S Pulst, M Baser, D Evans, G Rouleau, W Wertelecki, J Haines, W Hobbs, J Trofatter, Wippold Fj 2nd, M Lubner, R Perrin, M Lmmle, A Perry, J Antinheimo, R Sankila, O Carpn, E Pukkala, M Sainio, D Gutmann, A Aylsworth, J Carey, B Korf, J Marks, V Mautner, M Lindenau, M Baser, W Hazim, M Tatagiba, S Aoki, A Barkovich, K Nishimura, B Kjos, T Machida, N Patronas, N Courcoutsakis, C Bromley, G Katzman, M Maccollin, G Spilberg, E Marchiori, E Gasparetto, A Asthagiri, D Parry, J Butman, H Kim, E Tsilou, S Ahlawat, J Blakeley, S Langmead, A Belzberg, L Fayad, N Patronas, N Courcoutsakis, C Bromley, G Katzman, M Maccollin, S Plotkin, A Wick, M Baser, J Friedman, D Aeschliman, H Joe, A Wallace   +76 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

Correction to: Management of Neurofibromatosis Type 2 Associated Vestibular Schwannomas [PDF]

, 2021
Huan Jia, Ghizlène Lahlou, Hao Wu, Olivier Sterkers, Michel Kalamarides   +4 more
openalex   +1 more source

Neonates born at term with periventricular haemorrhagic infarction: Risk factors and clinical presentation

Developmental Medicine &Child Neurology, EarlyView.
This case series describes infants born near term with periventricular hemorrhagic infarction (PVHI), highlighting seizures as a common early symptom. Neonatal complications during delivery and pro‐thrombotic genetic mutations were slightly more common. MRI‐classified involvement was predominantly in the caudate vein territory.
Aleksandra Zaykova, Jeroen Dudink, Floris Groenendaal, Maarten H. Lequin, Manon J.N.L. Benders, Maria Luisa Tataranno, Elise Roze   +6 more
wiley   +1 more source

ENFERMEDAD DE VON RECKLINGHAUSEN Y EMBARAZO

Revista Chilena de Obstetricia y Ginecología, 2002
La enfermedad de Von Recklinghausen (neurofibromatosis) es una condición autosómica dominante la cual ha tenido variables expresiones clínicas, con manifestaciones que van de lesiones cutáneas moderadas a complicaciones ortopédicas severas y alteraciones
Gregorio Evans M., Ronald Poulsen R., Cristián Mardones S.   +2 more
doaj