Basilar Artery Changes in Fabry Disease

n/

Brain Changes in Kallmann Syndrome

n/

Degeneration and Plasticity of the Optic Pathway in Alström Syndrome.

BACKGROUND AND PURPOSE: Alstrom syndrome is a rare inherited ciliopathy in which early progressive cone-rod dystrophy leads to childhood blindness. We investigated functional and structural changes of the optic pathway in Alstrom syndrome by using MR imaging to provide insight into the underlying pathogenic mechanisms. MATERIALS AND METHODS: Eleven patients with genetically proved Alstrom syndrome (mean age, 23 years; range, 6–45 years; 5 females) and 19 age- and sex-matched controls underwent brain MR imaging. The study protocol included conventional sequences, resting-state functional MR imaging, and diffusion tensor imaging. RESULTS: In patients with Alstrom syndrome, the evaluation of the occipital regions showed the following: 1) diffuse white matter volume decrease while gray matter volume decrease spared the occipital poles (voxel-based morphometry), 2) diffuse fractional anisotropy decrease and radial diffusivity increase while mean and axial diffusivities were normal (tract-based spatial statistics), and 3) reduced connectivity in the medial visual network strikingly sparing the occipital poles (independent component analysis). After we placed seeds in both occipital poles, the seed-based analysis revealed significantly increased connectivity in patients with Alstrom syndrome toward the left frontal operculum, inferior and middle frontal gyri, and the medial portion of both thalami (left seed) and toward the anterior portion of the left insula (right and left seeds). CONCLUSIONS: The protean occipital brain changes in patients with Alstrom syndrome likely reflect the coexistence of diffuse primary myelin derangement, anterograde trans-synaptic degeneration, and complex cortical reorganization affecting the anterior and posterior visual cortex to different degrees

Apparent diffusion coefficient restriction in the white matter: going beyond acute brain territorial ischemia

BACKGROUND: Reduction of apparent diffusion coefficient (ADC) values in white matter is not always ischaemic in nature. METHODS: We retrospectively analysed our MRI records featuring reduced ADC values in the centrum semiovale without grey matter involvement or significant vasogenic oedema. RESULTS: Several conditions showed the aforementioned MR findings: moose-horn lesions on coronal images in X-linked Charcot-Marie-Tooth disease; small fronto-parietal lesions in Menkes disease; marked signal abnormalities in the myelinised regions in the acute neonatal form of maple syrup urine disease; strip-like involvement of the corpus callosum in glutaric aciduria type 1; persistent periventricular parieto-occipital abnormalities in phenylketonuria; diffuse signal abnormalities with necrotic evolution in global cerebral anoxia or after heroin vapour inhalation; almost completely reversible symmetric fronto-parietal lesions in methotrexate neurotoxicity; chain-like lesions in watershed ischaemia; splenium involvement that normalises in reversible splenial lesions or leads to gliosis in diffuse axonal injury. CONCLUSION: Neuroradiologists must be familiar with these features, thereby preventing misdiagnosis and inappropriate management

Nurses' perceptions of aids and obstacles to the provision of optimal end of life care in ICU

Contains fulltext : 172380.pdf (publisher's version ) (Open Access

Morphometric correlates of dysarthric deficit in amyotrophic lateral sclerosis.

Our objective was to investigate the volumetric correlates of speech in amyotrophic lateral sclerosis (ALS). Twenty-three ALS patients had a structural 3D MRI scan, neuropsychological, linguistic and speech assessments. Twenty-three healthy adults of comparable age, education, white-matter hyperintensity load and intracranial volumes were also recruited. Between-group differences in grey matter and white matter (WM) were examined to characterize ALS patients accurately. The association between residual speech and volumetric maps was studied in these patients. Results demonstrated that ALS patients showed a pattern of WM reduction, which was located in peri-cortical motor/premotor fibres bilaterally, and in a large volume extending from the pons/midbrain to the cerebellum. A speech composite score was computed, and this was positively associated with premotor/supplementary-motor WM bilaterally, and right cerebellar WM. Since premotor associations were found in volumes where ALS patients showed WM reduction, this region is believed to be directly involved in speech execution in this group. Since cerebellar associations were instead found in volumes free from shrinkage, this region is interpreted as playing a modulatory role, compensating for the impact of ALS pathology

Spinal subtraction MRI for diagnosis of epidural leakage in SIH

OBJECTIVE: To explore the efficacy of spinal MRI study with subtraction analysis as a rapid, reliable, and noninvasive procedure to detect epidural CSF collection in spontaneous intracranial hypotension (SIH) syndrome. METHODS: Seventeen patients (mean age 42 years, age range 17-65 years; 11 female) with SIH diagnosed using the International Classification of Headache Disorders criteria and 13 age-matched control subjects underwent standard sagittal spinal MRI. Postprocessing image analysis with subtraction of T1-weighted from T2-weighted MRI scans was performed and tested for the detection of the CSF leak. RESULTS: The CSF epidural collection was visible in all patients with SIH and was detected at the dorsal (16 of 17), cervical (13 of 17), lumbar (13 of 17), and sacral (12 of 17) levels. None of the control subjects showed a CSF leak. Diverticula were present in 23% of patients, whereas the actual site of the CSF leak was recognized in only one patient. Eight patients were treated conservatively, whereas 9 patients required an epidural blood patch, performed at a fixed L2-L3 or L3-L4 spinal level, with complete recovery. CONCLUSIONS: Spinal MRI with dedicated subtraction analysis could represent the first-line diagnostic tool in the management of patients with SIH, thus leaving invasive investigation for selected patients, such those requiring dural surgery