Results 71 to 80 of about 1,670 (197)

Mosaic KRAS Mutation in Schimmelpenning–Feuerstein–Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features

Pediatric Dermatology, Volume 42, Issue 3, Page 591-595, May/June 2025.
ABSTRACT We report a patient with clinically confirmed Schimmelpenning–Feuerstein–Mims (SFM) syndrome but many overlapping features with oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL). Whole exome sequencing revealed a mosaic KRAS c.436G>A, p.(Ala146Thr) mutation, previously identified in three OES and ECCL patients ...
Hyvönen Hanna, Kettunen Kaisa, Avela Kristiina, Kivirikko Sirpa, Jeskanen Leila, Suominen Sinikka, Salminen Päivi, Hannula‐Jouppi Katariina   +7 more
wiley   +1 more source

Late favorable results of duroplasty with biocellulose: clinical retrospective study of 20 cases

Brazilian Neurosurgery, 2012
Objective: Considering the importance of dural replacement in neurosurgery, mainly in times of advanced endoscopic skull base approaches, the authors report the late results after implanting of pure biocellulose membrane in 20 patients harboring ...
Luis Renato Mello, Barbara Bonaparte Alcantara, Celso Itiberê Bermardes, Vitor Hugo Boer   +3 more
doaj   +1 more source

The Prevalence and Clinical Characteristics of PHACE Syndrome in Facial Segmental Hemangiomas: A Single‐Center Retrospective Study

Dermatologic Therapy, Volume 2025, Issue 1, 2025.
Introduction PHACE syndrome is a neurocutaneous syndrome characterized by large facial segmental hemangiomas as the most typical manifestation. Its prevalence in East Asian is not well studied. Methods The retrospective study included 98 infants with facial segmental hemangiomas who underwent brain MRI/MRA, cardiac ultrasound, and ophthalmology ...
Jingjing Sun, Rui Chang, Shih-Jen Chang, Lei Chang, Qianyi Chen, Gang Ma, Yajing Qiu, Xiaoxi Lin, Yun-Sheng Liang   +8 more
wiley   +1 more source

Transcerebellar ventriculoperitoneal shunt for management of presumed arachnoid diverticulum in the fourth ventricle of a dog

Veterinary Surgery, Volume 53, Issue 8, Page 1430-1437, November 2024.
Abstract Objective To describe the approach for placement of a transcerebellar fourth ventriculoperitoneal shunt for management of presumed fourth ventricle arachnoid diverticulum and secondary obstructive hydrocephalus of a dog. To describe the outcome of this procedure. Study design Case report. Animals Male entire English springer spaniel, 3 years 9
Sophie Wyatt, Joe Fenn, Elsa Beltran
wiley   +1 more source

Clinical outcome and prognostic factors of patients with non-traumatic angiography-negative subarachnoid hemorrhage [PDF]

, 2023
PurposeThe cause of spontaneous subarachnoid hemorrhage (SAH) is unknown in 10% of cases. The aim of this study was to demonstrate the characteristics of patients with angiography-negative subarachnoid hemorrhage (anSAH) and to analyze factors ...
He Liu, Jianwen Jia, Tong Li, Xiaoli Liu, Yang Wang, Yibo Geng, Yongquan Sun   +6 more
core   +1 more source

New kinase‐deficient PAK2 variants associated with Knobloch syndrome type 2

Clinical Genetics, Volume 106, Issue 4, Page 518-524, October 2024.
Knobloch syndrome type 1 is caused by biallelic pathogenic variants in COL18A1 leading to collagen XVIII deficiency. Two new kinase‐deficient PAK2 variants associated with Knobloch syndrome phenotype strongly support a second, autosomal dominant form of Knobloch syndrome: KNO2.
Rhonda E. Schnur, Lukáš Dvořáček, Louisa Kalsner, Faye L. Shapiro, Dana Grebeňová, Diana Yanni, Barry N. Wasserman, VIGOR, Pankaj Agrawal, Margaret Parker, Timothy Yu, Jessica Douglas, Vanessa Young, Alissa D'Gama, Sonia Hills, Monika Wojcik, Catherine Brownstein, Casie Genetti, Klaus Schmith‐Abe, Lisa M. Dyer, Stylianos E. Antonarakis, Kateřina Kuželová   +21 more
wiley   +1 more source

Giant Quadrigeminal Cistern Lipoma: A Case Report and Literature Review

Brazilian Neurosurgery
We report the case of a giant lipoma of the quadrigeminal cistern in a 30-year-old female patient with headache, nausea, vomiting, and phono and photophobia. Despite the large size of the tumor, conservative treatment was chosen. Intracranial lipomas are
Eduardo Alves Summers Albuquerque, Pedro Felipe Soares, Renato Teixeira Conceição Júnior, Danilo Dias de França e Silva, Juliana Coelho Nunes, Ana Flávia Paiva Bandeira Assis, Ana Paula Rodrigues dos Santos, Fabrício Nery Marques, Bruno da Fonseca Noronha   +8 more
doaj   +1 more source

Insights on pathophysiology of hydrocephalus rats induced by kaolin injection

FASEB BioAdvances, Volume 6, Issue 9, Page 351-364, September 2024.
This graphical abstract illustrates the experimental procedures for the hydrocephalus rat model, its characterization, and subsequent RNA sequencing analysis. It details kaolin injection methods (30, 60, and 90 μL), behavioral tests (open field, new object recognition, Y‐maze), brain slices, and T2‐weighted MRI.
Kuo Zhang, Wanqi Zhou, Huijie Yu, Meijun Pang, Huixin Gao, Faheem Anwar, Kai Yu, Ziwei Zhou, Fang Guo, Xiuyun Liu, Dong Ming   +10 more
wiley   +1 more source

Proceedings 33rd On‐line Symposium ESVN‐ECVN

, 2022
Journal of Veterinary Internal Medicine, Volume 36, Issue 1, Page 300-352, January/February 2022.
wiley   +1 more source

The Tactics of Surgical Treatment in Patients with Cerebellar Infarction

Неотложная медицинская помощь, 2019
The aim of the study is to specify tactics of surgical treatment of cerebellar infarction (CI).Material and methods. The results of treatment of 80 patients with CI were studied.
V. G. Dashyan, Y. A. Khodykin, A. S. Nikitin, I. M. Godkov, D. V. Khovrin, Y. A. Sosnovsky, S. A. Asratyan, A. V. Sytnik, N. R. Akhmedzhanov   +8 more
doaj   +1 more source