We report a patient affected by -related disorder, providing the first extensive demonstration of clinical and neuroradiological progressive course of the disease, with possible implications on the way it is studied and followed-up. Never described clinical aspects such as toes abnormalities and hypospadias widen the range of dysmorphisms associated with this condition. Our data suggest that mutations may be implicated not only in impaired morphogenesis and hematopoiesis but also in progressive central nervous system damage, which remains to be further investigated and clarified.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1055/s-0041-1736193 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The Role of Simpson Grading System in Spinal Meningioma Surgery: Institutional Case Series, Systematic Review and Meta-Analysis.
Cancers (Basel)
December 2024
Neurosurgery Department, Santa Maria delle Grazie Hospital, ASL Napoli 2 Nord, Via Domitiana Località La Schiana Pozzuoli, 80078 Naples, Italy.
Background: Although its validity has recently been questioned since its introduction, the Simpson grade has remained one of the most relevant factors in estimating the recurrence risk of intracranial meningiomas. This study aims to assess its role in spinal meningiomas through a retrospective analysis of a mono-institutional surgical series and literature meta-analysis.
Methods: We conducted a systematic review and meta-analysis of the literature from 1980 to 2023, complemented by a mono-institutional series of 74 patients treated at "Santa Maria delle Grazie" hospital.
Biopsy location and tumor-associated macrophages in predicting malignant glioma recurrence using an in-silico model.
NPJ Syst Biol Appl
January 2025
Center for Interdisciplinary Digital Sciences (CIDS), Department Information Services and High-Performance Computing (ZIH), Dresden University of Technology, 01062, Dresden, Germany.
Predicting the biological behavior and time to recurrence (TTR) of high-grade diffuse gliomas (HGG) after maximum safe neurosurgical resection and combined radiation and chemotherapy plays a pivotal role in planning clinical follow-up, selecting potentially necessary second-line treatment and improving the quality of life for patients diagnosed with a malignant brain tumor. The current standard-of-care (SoC) for HGG includes follow-up neuroradiological imaging to detect recurrence as early as possible and relies on several clinical, neuropathological, and radiological prognostic factors, which have limited accuracy in predicting TTR. In this study, using an in-silico analysis, we aim to improve predictive power for TTR by considering the role of (i) prognostically relevant information available through diagnostics used in the current SoC, (ii) advanced image-based information not currently part of the standard diagnostic workup, such as tumor-normal tissue interface (edge) features and quantitative data specific to biopsy positions within the tumor, and (iii) information on tumor-associated macrophages.
View Article and Find Full Text PDFIntroduction: There has been limited research on predicting the functional prognosis of patients with non-surgical intracerebral hemorrhage (ICH) from the acute stage. The aim of this study is to develop a risk prediction model for the natural course in patients with non-surgical ICH and to evaluate its performance using a multicenter hospital-based prospective study of stroke patients in Japan.
Methods: We consecutively registered a total of 1,017 patients with acute ICH (mean age, 68 years) who underwent conservative treatment and followed them up for 3 months.
Periventricular Nodular Heterotopias Induced-Seizures in an Adolescent.
Cureus
December 2024
Pediatrics, Unidade Local de Saúde do Algarve-Hospital de Faro, Faro, PRT.
A female adolescent with no relevant past history was admitted to the Pediatric Emergency Department with two episodes of seizures without trauma, fever, or other symptoms. Head-MRI revealed bilateral subependymal nodular irregularities lining the lateral ventricles, with similar signal evolution to grey matter, confirming the diagnosis of periventricular nodular heterotopias (PVNH). Genetic testing revealed a Filamin A ( variant; family studies were negative.
View Article and Find Full Text PDFImpact of Sex Hormones on Glioblastoma: Sex-Related Differences and Neuroradiological Insights.
Life (Basel)
November 2024
Neurology Unit, Stroke Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Viale Risorgimento 80, 42123 Reggio Emilia, Italy.
Glioblastoma (GBM) displays significant gender disparities, being 1.6 times more prevalent in men, with a median survival time of 15.0 months for males compared to 25.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!