Search results for "Brain Disease"
showing 10 items of 74 documents
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
2019
Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences.
Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element
2020
OBJECTIVE Primary familial brain calcification (PFBC) is a rare cerebral microvascular calcifying disorder with diverse neuropsychiatric expression. Five genes were reported as PFBC causative when carrying pathogenic variants. Haploinsufficiency of SLC20A2, which encodes an inorganic phosphate importer, is a major cause of autosomal-dominant PFBC. However, PFBC remains genetically unexplained in a proportion of patients, suggesting the existence of additional genes or cryptic mutations. We analyzed exome sequencing data of 71 unrelated, genetically unexplained PFBC patients with the aim to detect copy number variations that may disrupt the expression of core PFBC-causing genes. METHODS Afte…
Target point calculation in the computerized tomography. Comparison of different stereotactic methods
1995
The adaptation of computerized tomography for stereotactic operations requires the transformation of the coordinates of the target point from the CT image space into the stereotactic frame space. Two basic solutions for this transformation are realized in the most of the contemporary stereotactical systems. The indirect geometric method adjusts the frame coordinate system mechanically and identifies its origin in the CT image. There are 6 degrees of freedom: 3 of rotation and 3 of translation which have to be taken into consideration. The second method is a based on direct algebraic coordinate transformation and is independent of the explicite knowledge of the relationship between the image…
Surgical technique of the supraorbital key-hole craniotomy.
2003
BACKGROUND The enormous development of microsurgical techniques and instrumentation together with preoperative planning using the excellent preoperative diagnostic facilities available, enables neurosurgeons to treat more complicated diseases through smaller and more specific approaches. METHODS The technical details of the supraorbital key-hole craniotomy are described in this article as it has been evolving in our experience for more than 10 years. After an eyebrow skin incision with careful soft tissue dissection and single frontobasal burr-hole trephination, a supraorbital craniotomy is carried out with a diameter of about 1.5 x 2.5 cm. As a real frontolateral approach, the supraorbital…
Association of human herpesvirus 6 and human herpesvirus 7 with demyelinating diseases of the nervous system.
2001
Peripheral blood mononuclear cells and plasma of 113 patients with neurological disorders and 150 blood donors were analyzed for HHV-6 and HHV-7 sequences by PCR. The prevalence of HHV-6 was significantly higher in patients with multiple sclerosis (P < 0.01) than in cases of nondemyelinating diseases of the central and demyelinating diseases of the peripheral nervous systems and blood donors. HHV-6 viremia was found only in patients with multiple sclerosis, predominantly in the active phase of the disease. A significantly higher frequency of HHV-7 reactivation in patients with demyelinating diseases of the peripheral nervous system suggests also its association with demyelinating processes.
Frameless Neuronavigation Applied to Endoscopic Neurosurgery
2000
Objective: We retrospectively analyzed the indications, surgical techniques, and applicability of frameless neuronavigation to endoscopic procedures in a heterogeneous group of 15 patients. Material and Methods: In 8 patients indications for surgery were cystic lesions, in 3 patients intraventricular tumors, and in 4 patients occlusive hydrocephalus. The mean age was 39 years (range 9 - 76 years). The follow-up period ranged from 5 - 24 months (mean 10 months). Frameless neuronavigation was accomplished with the “operating arm system” in 10 cases and with the “optical tracking system” in 5 cases (RADIONICS, Burlington, USA). Results: In all 15 cases, neuronavigation sufficiently provided an…
In vivo reprogramming for tissue repair.
2015
Berninger and colleagues define milestones for in vivo reprogramming and discuss recent developments in reprogramming into pancreatic b-cells and neurons. Vital organs such as the pancreas and the brain lack the capacity for effective regeneration. To overcome this limitation, an emerging strategy consists of converting resident tissue-specific cells into the cell types that are lost due to disease by a process called in vivo lineage reprogramming. Here we discuss recent breakthroughs in regenerating pancreatic β-cells and neurons from various cell types, and highlight fundamental challenges that need to be overcome for the translation of in vivo lineage reprogramming into therapy.
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants
2020
Mice lacking GAD1 show neonatal mortality, but the human phenotype associated with GAD1 disruption is poorly characterized. Neuray et al. describe six patients with biallelic GAD1 mutations, presenting with early-infantile onset epilepsy, neurodevelopmental delay, muscle weakness and non-CNS manifestations.
Congenital muscular dystrophy: from muscle to brain.
2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement. The histologic pattern of muscle anomalies is typical of dystrophic lesions but quite variable depending on the different stages and on the severity of the disorder. Recent classification of CMDs have been reported most of which based on the combination of clinical, biochemical, molecular and genetic findings, but genotype/phenotype correlation are in constant progression due to more diffuse utilization of the molecular analysis. In this article, the Authors report on CMDs belonging to the group of dystroglyc…
Statins and angiogenesis in non-cardiovascular diseases.
2022
Statins inhibit HMG-CoA reductase by competitively inhibiting the active site of the enzyme, thus preventing cholesterol synthesis and reducing the risk of developing cardiovascular disease. Many pleiotropic effects of statins have been demonstrated that can be either related or unrelated to their cholesterol-lowering ability. Among these effects are their proangiogenic and antiangiogenic properties that could offer new therapeutic applications. In this regard, pro- and anti-angiogenic properties of statins have been shown to be dose dependent. Statins also appear to have a variety of non-cardiovascular angiogenic effects in many diseases, some examples being ocular disease, brain disease, …