Results 171 to 180 of about 542,310 (274)

Mosaic KRAS Variant as a Cause of Developmental Eye Anomalies in an Individual With EncephaloCranioCutaneous Lipomatosis

Clinical Genetics, EarlyView.
We describe a girl presenting with structural eye anomalies and a constellation of features suggestive of the mosaic RASopathy EncephaloCranioCutaneous Lipomatosis (ECCL). Tissue‐specific investigations identified a mosaic KRAS variant at a mutational hotspot (p.[Ala146Pro]), prompting appropriate tumour surveillance.
Karthikah Jeganathan, Fabiola Ceroni, Samuel J. H. Clokie, Nicole Motton Hill, Manoj Parulekar, Karl Johnson, Lidiya V. Talbot, Dorine A. Bax, Nicola K. Ragge   +8 more
wiley   +1 more source

Clinical Spectrum, Diagnostic Work-up, and Outcomes of Neurolymphomatosis in Lymphoid Malignancies: A 10-Patient Case Series. [PDF]

Blood Lymphat Cancer
Alazzawi S, Abdulgayoom M, Taha RY, Abdelrazek M, Mohammed WM, Mulikandathil Y, Al Battah AH, Elkourashy SA, Ekeibed Y, Cherif H.   +9 more
europepmc   +1 more source

Comparative analysis of endoscopic endonasal far-medial, far-lateral transcondylar and combined approaches to the foramen magnum region: volumetric analysis and quantitative insights on surgical exposure and maneuverability. [PDF]

Acta Neurochir (Wien)
Blue R, Zhou Y, Bond K, Ajmera S, Alvarez R, Moseley R, Hosokawa P, Youssef AS.   +7 more
europepmc   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

[Multiple paralysis of the cranial nerves produced by neoplasms of the base of the cranium].

Arquivos de neuro-psiquiatria, 1998
H M, CANELAS, O F, JULIAO
openaire   +1 more source

Thrombotic Microangiopathy‐Like Phenotype in Patients With Infection‐Associated Disseminated Intravascular Coagulation Treated With Thrombomodulin Alfa

European Journal of Haematology, EarlyView.
ABSTRACT Despite disseminated intravascular coagulation (DIC) and thrombotic microangiopathy (TMA) sharing features of thrombocytopenia, organ dysfunction, and bleeding, the relationship between these two conditions remains unclear. We therefore conducted a post hoc analysis of post‐marketing surveillance data from Japan to evaluate the clinical ...
Naoki Takezako, Fumiyo Komatsu, Goichi Honda, Noriaki Kawano, Toshimasa Uchiyama, Kazuo Kawasugi, Seiji Madoiwa, Kei Suzuki, Yoshinobu Seki, Takayuki Ikezoe, Kohji Okamoto, Hideo Wada   +11 more
wiley   +1 more source

Extraperitoneal single‐site robot‐assisted radical prostatectomy with extended pelvic lymph node dissection: technique and experience

BJU International, Volume 135, Issue 4, Page 700-705, April 2025.
Yubo Wang, Mingzhao Li, Kai Yao, Zhuyinjun Zong, Yifan Chang, Yongda Liu, Chao Cai, Fadi Mousa Al Kalailah, Shancheng Ren, Guohua Zeng, Di Gu   +10 more
wiley   +1 more source

Prevalence and Disability of Peripheral Neuropathy in Patients With Waldenström's Macroglobulinemia

European Journal of Haematology, EarlyView.
ABSTRACT Objectives Peripheral neuropathy (PN) is considered a frequent complication of Waldenström's macroglobulinemia (WM). Establishing a causal relationship between PN and WM is complicated by confounding factors such as age‐related axonal loss and diabetes. This scoping review aims to summarize the current evidence on WM‐associated PN with a focus
Morten Müller Aagaard, Kristoffer Nagy Skaastrup, Louise Sloth Kodal, Britt Stævnsbo Pedersen, Troels Hammer, John Vissing, Tina Dysgaard   +6 more
wiley   +1 more source

Jugulotympanic paraganglioma, preoperative embolization, and transmastoid retrolabyrinthine approach: Two-dimensional operative video. [PDF]

Surg Neurol Int
Chávez EE, Antunez RZ, Torres RS, Uribe-Pacheco R, Arceo Pool OK, Miranda-González A.   +5 more
europepmc   +1 more source

A frontal lobe mass in a 6‐year‐old girl

Brain Pathology, EarlyView.
Francesca S. Vacca, Aaron Mochizuki, Smruti K. Patel, Blaise Jones, Somak Roy, Kirti Gupta   +5 more
wiley   +1 more source