Search results for "Malformation"

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

2019

See Karakaya and Wirth (doi:10.1093/brain/awz273) for a scientific commentary on this article. Neurofascin (NFASC) isoforms are immunoglobulin cell adhesion molecules involved in node of Ranvier assembly. Efthymiou et al. identify biallelic NFASC variants in ten unrelated patients with a neurodevelopmental disorder characterized by variable degrees of central and peripheral involvement. Abnormal expression of Nfasc155 is accompanied by severe loss of myelinated fibres.

Chronic cerebrospinal venous insufficiency is unlikely to be a direct trigger of multiple sclerosis

2013

Abstract Background Chronic cerebrospinal venous insufficiency, a vascular pathology affecting the veins draining the central nervous system can accompany multiple sclerosis and is suspected to be involved in its pathogenesis. Objective This study was aimed at exploring a potential role for chronic cerebrospinal venous insufficiency in triggering multiple sclerosis. If it were venous abnormalities responsible for neurological pathology, one should expect negative correlation, i.e. more severe vascular lesions in the patients with early onset of multiple sclerosis. Methods Localization and degree of venous blockages in 350 multiple sclerosis patients were assessed using catheter venography. …

Morphometric analysis of the shells of the Genus Bolivina from the Gulf of Gela (Sicilian Channel, Italy): a valid classification instrument?

2010

Endoscopic third ventriculostomy in infants of less than 1�year of age: which factors influence the outcome?

2004

Endoscopic third ventriculostomy (ETV) is a successful method of treatment for obstructive hydrocephalus. In infants, however, it is reported to have a higher failure rate. On the basis of our own data and a meta-analysis of the literature, we try to define factors prognosticating potential failure in infants aged less than 1 year. Data were collected retrospectively. Between October 1994 and October 2002, 20 ETVs were performed in 16 patients younger than 1 year. Ages ranged from 8 to 311 days (median 103). Etiology was aqueductal stenosis in all 16 patients (idiopathic in 7, posthemorrhagic in 3, postmeningitic in 3, and related to CNS or vascular malformation in 3). ETV failure was defin…

Imaging of inner ear malformations: a primer for radiologists

2021

AbstractIn the multidisciplinary management of patients with inner ear malformations (IEMs), the correct diagnosis makes the differences in terms of clinical and surgical treatment. The complex anatomical landscape of the inner ear, comprising several small structures, makes imaging of this region particularly challenging for general radiologists. Imaging techniques are important for identifying the presence and defining the type of IEM and the cochlear nerve condition. High-resolution magnetic resonance imaging (MRI) sequences and high-resolution computed tomography (HRCT) are the mainstay imaging techniques in this area. Dedicated MRI and HRCT protocols play an important role in the diagn…

Changes in the expression of cation-Cl- cotransporters, NKCC1 and KCC2, during cortical malformation induced by neonatal freeze-lesion.

2007

Focal cortical malformations comprise a heterogeneous group of disturbances in brain development, often associated with intractable epilepsy. A focal freeze-lesion of cerebral cortex in newborn rat produces a cortical malformation that resembles human polymicrogyria, clinical conditions that results from abnormal neuronal migration. The change in GABAergic functions that occurs during early brain development is induced by an alteration in Cl(-) homeostasis and plays important roles in neocortical development by modulating such events as laminar organization and synaptogenesis. We therefore investigated the relationship between pathogenesis of polymicrogyria and ontogeny of Cl(-) homeostasis…

SLC20A1 Is Involved in Urinary Tract and Urorectal Development

2020

Previous studies in developing Xenopus and zebrafish reported that the phosphate transporter slc20a1a is expressed in pronephric kidneys. The recent identification of SLC20A1 as a monoallelic candidate gene for cloacal exstrophy further suggests its involvement in the urinary tract and urorectal development. However, little is known of the functional role of SLC20A1 in urinary tract development. Here, we investigated this using morpholino oligonucleotide knockdown of the zebrafish ortholog slc20a1a. This caused kidney cysts and malformations of the cloaca. Moreover, in morphants we demonstrated dysfunctional voiding and hindgut opening defects mimicking imperforate anus in human cloacal exs…

Diagnostic accuracy of current sonographic criteria for the detection of outflow abnormalities in the internal jugular veins

2012

Objectives: This study was aimed at evaluation of the diagnostic value of Doppler sonography for the assessment of abnormalities in the internal jugular veins (IJVs). Method: One hundred and sixteen IJVs were assessed in 58 patients with associated multiple sclerosis. Findings of Doppler sonography were compared with results of the reference test: catheter venography. Results: At least one positive extracranial sonographic criterion suggesting venous abnormality was found in 92.2% of the assessed veins. Yet, sensitivity, specificity, positive and negative predictive values of sonography were low: 93.4%, 12.0%, 79.4% and 33.3% for at least one positive criterion, and for at least two positiv…

Congenitally corrected transposition of great vessels: MRI and echocardiographic appearance

1995

This paper presents the case of a 36-year-old male with congenitally corrected transposition of great vessels (CTGV). This is a rare cardiac anomaly characterized by atrioventricular and ventriculoarterial discordance, occuriing in less than 1% of all congenital heart diseases. This was diagnosed by echocardiography and MRI. The MRI findings demonstrated cardiac abnormality.

A refugee newborn with heart failure and initial hydrops: Diagnostic clues of spectral Doppler examinations

2022

A newnborn admitted to NICU showed a severe clinical profile