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1.
Neuroradiology ; 63(7): 1103-1112, 2021 Jul.
Article in English | MEDLINE | ID: mdl-33471157

ABSTRACT

PURPOSE: To explore the potential of superb microvascular imaging (SMI) in visualizing brain microvessels in preterm neonates of different gestational ages (GA). METHODS: In this retrospective, observational pilot study, 15 preterm newborns were equally divided into GA groups: extremely (GA < 28 weeks), very (28-31 weeks), and moderate to late (32-37 weeks) preterm. All patients underwent conventional transcranial ultrasounds during the first day of life following the American Institute of Ultrasound in Medicine practice guidelines. SMI was then performed; based on their SMI morphology and location, brain microvessels were classified as extrastriatal (cortical and medullary), striatal, or thalamic. Two examiners independently classified vessels as visible or invisible. To assess the association between vessel visibility and GA, binomial logistic regression analysis (separate for each microvessel group) was performed, taking visibility as a dependent variable and both examiners and GA as predictor variables. RESULTS: A statistically significant difference among GA groups was found in sex (P = 0.030), birth weight (P = 0.007), and Apgar score within 1 min after birth (P = 0.024). Microvascular visibility increased with GA for superficial vessels (P < 0.05 for both cortical and medullary), while striatal and thalamic vessels were visible in all neonates irrespective of their GA. CONCLUSIONS: SMI technology shows promise to assess brain microvasculature in preterm neonates, even potentially providing data on early brain development.


Subject(s)
Microvessels , Ultrasonography, Doppler , Angiography , Humans , Infant, Newborn , Microvessels/diagnostic imaging , Retrospective Studies , Ultrasonography
2.
Eur J Neurol ; 27(12): 2604-2615, 2020 12.
Article in English | MEDLINE | ID: mdl-32697863

ABSTRACT

BACKGROUND AND PURPOSE: The aim was to define the radiological picture of facioscapulohumeral muscular dystrophy 2 (FSHD2) in comparison with FSHD1 and to explore correlations between imaging and clinical/molecular data. METHODS: Upper girdle and/or lower limb muscle magnetic resonance imaging scans of 34 molecularly confirmed FSHD2 patients from nine European neuromuscular centres were analysed. T1-weighted and short-tau inversion recovery (STIR) sequences were used to evaluate the global pattern and to assess the extent of fatty replacement and muscle oedema. RESULTS: The most frequently affected muscles were obliquus and transversus abdominis, semimembranosus, soleus and gluteus minimus in the lower limbs; trapezius, serratus anterior, latissimus dorsi and pectoralis major in the upper girdle. Iliopsoas, popliteus, obturator internus and tibialis posterior in the lower limbs and subscapularis, spinati, sternocleidomastoid and levator scapulae in the upper girdle were the most spared. Asymmetry and STIR hyperintensities were consistent features. The pattern of muscle involvement was similar to that of FSHD1, and the combined involvement of trapezius, abdominal and hamstring muscles, together with complete sparing of iliopsoas and subscapularis, was detected in 91% of patients. Peculiar differences were identified in a rostro-caudal gradient, a predominant involvement of lower limb muscles compared to the upper girdle, and in the higher percentage of STIR hyperintensities in FSHD2. CONCLUSION: This multicentre study defines the pattern of muscle involvement in FSHD2, providing useful information for diagnostics and clinical trial design. Both similarities and differences between FSHD1 and FSHD2 were detected, which is also relevant to better understand the pathogenic mechanisms underlying the FSHD-related disease spectrum.


Subject(s)
Muscular Dystrophy, Facioscapulohumeral , Humans , Lower Extremity , Magnetic Resonance Imaging , Muscle, Skeletal/diagnostic imaging , Muscular Dystrophy, Facioscapulohumeral/diagnostic imaging , Muscular Dystrophy, Facioscapulohumeral/genetics
6.
Acta Otorhinolaryngol Ital ; 29(4): 222-5, 2009 Aug.
Article in English | MEDLINE | ID: mdl-20161882

ABSTRACT

Mucous membrane pemphigoid includes chronic autoimmune sub-epithelial blistering diseases that predominantly affect mucous membranes, with varying combinations of oral, ocular, cutaneous, genital, nasopharyngeal, oesophageal and laryngeal lesions. The case is reported of a man with multiple manifestations of mucous membrane pemphigoid. A 53-year-old male presented at our Department with a 4-year clinical history of diagnosed cicatricial pemphigoid. The patient was affected by ocular and urinary symptoms and presented with nasal obstruction and dysphonia. Nasal endoscopy revealed crusting and synechiae with pale and atrophic mucosa. Computed tomography examination showed hypodense-hyperdense material occupying all paranasal sinuses and nasal fossae. Laryngoscopy showed anterior para-commessural and inter-arytenoidal synechiae. The patient underwent functional endoscopic sinus surgery for incision of synechiae and removal of scars and inflammatory material from all sinuses. Nasal splints were then inserted. A wait-and-see policy was adopted for the laryngeal lesion. One year later, the splints were removed; the upper airways were still free and there were no signs of nasal obstruction. An endoscopic approach appears to be efficacious in the surgical treatment of nasal cicatricial pemphigoid, and long-term stenting may be necessary to avoid recurrence. Although surgery has not a curative role in long-term therapeutic strategies, it may, nonetheless, improve the quality of life and ensure good nasal respiration.


Subject(s)
Nasal Mucosa/pathology , Pemphigoid, Benign Mucous Membrane/surgery , Atrophy/pathology , Humans , Male , Middle Aged , Paranasal Sinuses/pathology
7.
Clin Genet ; 74(4): 349-57, 2008 Oct.
Article in English | MEDLINE | ID: mdl-18786133

ABSTRACT

Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder resulting from the inherited deficiency of the arylsulfatase A (ARSA) enzyme. Currently, no valid therapeutic options are available for affected patients. A thorough knowledge of disease progression in its diverse clinical variants, together with the identification of reliable prognostic factors, could be instrumental in accurate patient selection for new upcoming therapeutic opportunities, such as enzyme replacement and gene therapy. The described correlation between genotype and clinical presentation proved helpful in predicting patient's prognosis, only in the minority of MLD patients harboring common mutations. Molecular characterization of a cohort of 26 MLD patients allowed us to identify 18 mutations, excluding the common 0 and R alleles, 10 of which are rare and 8 are novel. By categorizing the rare mutations, we were able to confirm a correlation between ARSA gene mutations, age at onset and patterns of disease progression, not only in those patients bearing common mutations, but also in those carrying rare mutant alleles. Moreover, in the case of absent or delayed molecular diagnosis, or of newly identified mutations, the involvement of peripheral nervous system from disease onset proved to be a sensitive prognostic marker predicting a severe progression.


Subject(s)
Genotype , Leukodystrophy, Metachromatic/diagnosis , Leukodystrophy, Metachromatic/genetics , Mutation/genetics , Alleles , Brain/pathology , Cerebroside-Sulfatase/genetics , Cohort Studies , DNA Mutational Analysis , Family , Female , Humans , Leukodystrophy, Metachromatic/enzymology , Male , Phenotype
9.
Ann Oncol ; 13(11): 1827-32, 2002 Nov.
Article in English | MEDLINE | ID: mdl-12419758

ABSTRACT

BACKGROUND: Primary central nervous system lymphomas (PCNSLs) are rare tumors, mostly represented by diffuse large B cells. PCNSLs with a T phenotype are less frequently reported; even rarer are anaplastic large cell lymphomas (ALCLs). PCNSL ALCLs are commonly represented, like their systemic counterpart, by a variably prevalent amount of large pleomorphic tumor cells ('hallmark cells'), and this feature enhances their recognition. Patient and methods We report the first case of primary brain CD30+ ALK-1+ ALCL with a T-cell phenotype, showing the combination of both the 'lymphohistiocytic' and the 'small cell' variants of the disease. A few elements consistent with 'hallmark cells' were recognizable. However, these cells were never prominent, increasing diagnostic difficulties. Immunohistochemistry results were critical for the correct interpretation. Our findings also differ from the majority of PCNSL ALCLs for the absence of tumor necrosis and the lack of prominent mitotic activity. The neuroimaging picture was not specific. A comparison with literature data concerning the clinical/instrumental features shows a very frequent meningeal involvement in PCNSL ALCLs, in contrast to the majority of PCNSLs. CONCLUSION: The occurrence of such a rare form of ALCL may widen the spectrum of differential diagnoses in PCNSL and their recognition may allow a rapid diagnosis, thus encouraging adequate treatment, which should take into account the high rate of meningeal involvement observed in these cases.


Subject(s)
Brain Neoplasms/pathology , Ki-1 Antigen/analysis , Lymphoma, Large-Cell, Anaplastic/pathology , Adult , Antineoplastic Combined Chemotherapy Protocols/administration & dosage , Biopsy, Needle , Brain Neoplasms/drug therapy , Brain Neoplasms/immunology , Follow-Up Studies , Humans , Immunocompetence , Immunohistochemistry , Lymphoma, Large-Cell, Anaplastic/drug therapy , Lymphoma, Large-Cell, Anaplastic/immunology , Magnetic Resonance Imaging , Male , Neoplasm Staging , Tomography, X-Ray Computed , Treatment Outcome
10.
Surg Endosc ; 15(8): 897, 2001 Aug.
Article in English | MEDLINE | ID: mdl-11443437

ABSTRACT

Mediastinal dumbbell tumors can be resected with a variety of open surgical approaches. Recently, thoracoscopic techniques have been suggested for the treatment of benign neurogenic lesions. Over a 5-year period, three patients with a benign mediastinal dumbbell tumor were treated via a combined microneurosurgical and thoracoscopic approach. The neurosurgical phase consisted of a posterior laminectomy to free the tumor from the spinal cord, followed by an intervertebral foraminotomy. Thoracoscopic resection of the lesion was then performed in the same setting. The operative times were 240, 260, and 280 min, and there were no operative complications. The postoperative stays were 6, 7, and 7 days; the postoperative period was uneventful in all three patients. Pathologic examination revealed a benign schwannoma in two cases and an angiolipoma in one case. One patient reported the onset of paraesthesia in the left hypocondrium on the distribution area of the transected T10 and T11 intercostal nerves; slight paraesthesia still remains 15 months from surgery. We conclude that the combined posterior neurosurgical and thoracoscopic approach is a safe and effective method for the removal of benign mediastinal dumbbell tumors, whether neurogenic or nonneurogenic in origin.


Subject(s)
Mediastinal Neoplasms/surgery , Thoracoscopy/methods , Adult , Aged , Angiolipoma/surgery , Female , Humans , Male , Middle Aged , Neurilemmoma/surgery , Treatment Outcome
11.
Skull Base ; 11(3): 177-87, 2001 Aug.
Article in English | MEDLINE | ID: mdl-17167619

ABSTRACT

The relationships between the horizontal segment of the internal carotid artery (ICA) and other petrous apex structures was studied in 14 anatomical specimens obtained from routine autopsies and on 10 magnetic resonance images obtained from healthy volunteers. The dissection was performed under an operating microscope using the middle fossa transpetrous approach. A pentagonshaped area of 67.91 mm(2) posterior to the trigeminal nerve and bordered by anatomical structures was identified inside the petrous apex. The results suggest a method for exposing the ICA when the artery is not visible after dural elevation.

12.
Neurol Sci ; 22 Suppl 2: S69-73, 2001 Nov.
Article in English | MEDLINE | ID: mdl-11794482

ABSTRACT

Acute transverse myelopathy (ATM) is a clinical definition of an acute neurologic condition that reflects impairment of spinal cord function. The term "myelopathy" has a different meaning from "myelitis", even if the words are often confused. Both terms indicate spinal cord involvement by some pathological event; but while myelopathy does not imply any etiological factor, myelitis refers to inflammatory diseases of the spinal cord. Acute spinal pathology can be associated with intra-axial or extra-axial lesions; extra-axial spinal pathology, however, has more often a chronic and progressive presentation. In this paper, we discuss primarily intra-axial lesions with attention on the role of neuroradiological investigations in diagnosis and differential diagnosis. Magnetic resonance imaging is the modality of choice for diagnosis; it shows signal abnormalities, usually T2 hyperintensity, focal or extensive, gadolinium enhancement and sometimes cord swelling. Despite its high sensitivity, about 40% of acute transverse myelopathies remain undemonstrated. Concerning etiology (multiple sclerosis (MS), vasculitis, infection, autoimmune disorders) no clearly different and specific patterns have been found; however small multiple enhancing lesions are more suggestive of MS (or lupus) while extensive, multilevel abnormalities reflect vasculitis as in antiphospholipid antibody syndrome.


Subject(s)
Myelitis, Transverse/diagnosis , Diagnosis, Differential , Humans , Magnetic Resonance Imaging , Multiple Sclerosis/complications , Myelitis, Transverse/epidemiology , Myelitis, Transverse/etiology , Myelitis, Transverse/physiopathology , Prognosis , Terminology as Topic
13.
Neuroradiology ; 42(9): 669-75, 2000 Sep.
Article in English | MEDLINE | ID: mdl-11071441

ABSTRACT

Small spinal cord lesions, even if clinically significant, can be due to the low sensitivity of some pulse sequences. We compared T2-weighted fast (FSE), and conventional (CSE) spin-echo and short-tau inversion-recovery (STIR)-FSE overlooked on MRI sequences to evaluate their sensitivity to and specificity for lesions of different types. We compared the three sequences in MRI of 57 patients with cervical spinal symptoms. The image sets were assessed by two of us individually for final diagnosis, lesion detectability and image quality. Both readers arrived at the same final diagnoses with all sequences, differentiating four groups of patients. Group 1 (30 patients, 53%), with a final diagnosis of multiple sclerosis (MS). Demyelinating lesions were better seen on STIR-FSE images, on which the number of lesions was significantly higher than on FSE, while the FSE and CSE images showed approximately equal numbers of lesions; additional lesions were found in 9 patients. The contrast-to-noise ratio (CNR) of 17 demyelinating lesions was significantly higher on STIR-FSE images than with the other sequences. Group 2, 19 patients (33%) with cervical pain, 15 of whom had disc protrusion or herniation: herniated discs were equally well delineated with all sequences, with better myelographic effect on FSE. In five patients with intrinsic spinal cord abnormalities, the conspicuity and demarcation of the lesions were similar with STIR-FSE and FSE. Group 3, 4 patients (7%) with acute myelopathy of unknown aetiology. In two patients, STIR-FSE gave better demarcation of lesions and in one a questionable additional lesions. Group 4, 4 patients (7%) with miscellaneous final diagnoses. STIR-FSE had high sensitivity to demyelinating lesions, can be considered quite specific and should be included in spinal MRI for assessment of suspected demyelinating disease.


Subject(s)
Demyelinating Diseases/pathology , Magnetic Resonance Imaging , Spinal Cord/pathology , Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Neck , Sensitivity and Specificity , Time Factors
14.
Ann Thorac Surg ; 70(3): 957-8, 2000 Sep.
Article in English | MEDLINE | ID: mdl-11016341

ABSTRACT

Nonneurogenic dumbbell tumors are rare. This report describes the case of a 46-year-old woman with a symptomatic mediastinal dumbbell angiolipoma. The tumor was successfully resected using a single-stage procedure, combining a posterior microneurosurgical and thoracoscopic approach. The patient made an uneventful recovery and the neurologic symptoms improved immediately.


Subject(s)
Angiolipoma/surgery , Mediastinal Neoplasms/surgery , Angiolipoma/diagnostic imaging , Female , Humans , Mediastinal Neoplasms/diagnostic imaging , Middle Aged , Tomography, X-Ray Computed
15.
J Neurol ; 247(1): 29-33, 2000 Jan.
Article in English | MEDLINE | ID: mdl-10701894

ABSTRACT

Fast fluid-attenuated inversion recovery (fFLAIR) is more sensitive that conventional or fast spin echo T2-weighted magnetic resonance imaging (MRI) for detecting lesions in the brain of patients with ischemic, inflammatory, or demyelinating diseases of the CNS. We investigated whether the use of fFLAIR also increases the sensitivity of brain MRI assessment in patients with systemic autoimmune disorders. Turbo spin echo (TSE) dual-echo and fFLAIR scans of the brain were obtained from patients affected by systemic lupus erythematosus (SLE) with (NSLE, n = 9) and without clinical CNS involvement (n = 15), Behçet disease (n = 5), Wegener granulomatosis (n = 9), and antiphospholipid antibody syndrome (n = 6). Brain hyperintense lesions were counted and classified according to their size and their location by two observers by consensual agreement. The total lesion volume was measured using a semiautomated technique for lesion segmentation on both TSE and fFLAIR scans. The imaging modalities showed brain hyperintense lesions in all 9 SLE patients with CNS involvement, 5 of 15 SLE patients without CNS involvement, 5 of 9 patients with Wegener granulomatosis, 1 of 5 with Behçet disease, and 3 of 6 with antiphospholipid antibody syndrome. A total of 342 lesions were seen on both sequences; 88 were seen only on TSE and 54 only on fFLAIR scans. The average number of brain lesions per scan was higher on TSE than on fFLAIR, since significantly more discrete (P<0.002) and small (P = 0.004) lesions were seen on TSE than on fFLAIR. The median total lesion volume, however, was similar on TSE and fFLAIR. Our study indicates that the use of fFLAIR does not improve the sensitivity of fast dual-echo MRI for detecting brain abnormalities in patients with systemic autoimmune disorders.


Subject(s)
Autoimmune Diseases/pathology , Brain/pathology , Central Nervous System Diseases/pathology , Magnetic Resonance Imaging/methods , Adult , Aged , Female , Humans , Male , Middle Aged
16.
J Neurol Neurosurg Psychiatry ; 68(2): 170-7, 2000 Feb.
Article in English | MEDLINE | ID: mdl-10644783

ABSTRACT

OBJECTIVE: Magnetisation transfer imaging (MTI) provides information about brain damage with increased pathological specificity over conventional MRI and detects subtle abnormalities in the normal appearing brain tissue, which go undetected with conventional scanning. Brain MRI and MTI findings were compared in patients with multiple sclerosis (MS) and systemic immune mediated diseases (SIDs) affecting the CNS to investigate their roles in understanding the nature of brain damage in these diseases. METHODS: Brain dual echo, T1 weighted and MTI scans were obtained in patients affected by systemic lupus erithematosus (SLE) with (NSLE, n=9) and without clinical CNS involvement (n=15), Behçet's disease (BD) (n=5), Wegener's granulomatosis (WG) (n=9), and antiphospholipid antibody syndrome (APLAS) (n=6). Ten patients with clinically definite MS and 15 healthy controls also underwent the same scanning protocol. Brain MRI and MT ratio (MTR) images of the same subject were coregistered and postprocessed to obtain MTR histograms of the whole brain and of the NABT. RESULTS: Brain hyperintense lesions were found in all patients with MS and with NSLE and in 5/15 patients with SLE, 5/9 with WG, 1/5 with BD, and 3/6 with APLAS. The lesion burden in the brain was significantly higher in patients with MS compared with all the other disease groups. All MTR histogram parameters were significantly different among patient subgroups. Patients with MS had significantly lower average MTR than all except patients with NSLE and significantly lower peak height and location than patients with SLE. patients with NSLE had significantly lower average MTR than patients with SLE. CONCLUSIONS: Microscopic brain tissue damage is relevant in patients with MS, but, apart from patients with NSLE, it seems to be absent in systemic immune mediated diseases, even in the presence of macroscopic MRI lesions or clinical evidence of CNS involvement.


Subject(s)
Autoimmune Diseases/pathology , Brain/pathology , Magnetic Resonance Imaging/methods , Multiple Sclerosis/pathology , Adult , Aged , Antiphospholipid Syndrome/pathology , Behcet Syndrome/pathology , Diagnosis, Differential , Female , Granulomatosis with Polyangiitis/pathology , Humans , Immune Complex Diseases/pathology , Lupus Erythematosus, Systemic/pathology , Male , Middle Aged
18.
Neuroradiology ; 38(2): 115-9, 1996 Feb.
Article in English | MEDLINE | ID: mdl-8692418

ABSTRACT

Magnetisation transfer (MT) is a recently introduced technique for assessing the water content of tissues in vivo and its relationship to macromolecules or membranes. It has been suggested that MT could provide indirect evidence of the characteristics of multiple sclerosis (MS) lesions (oedema, demyelination, or gliosis). Our aims were to characterise brain MS lesions and to compare the magnetisation transfer ratio (MTR) values of lesions with different patterns of contrast enhancement. In patients with MS we measured the MTR of 65 gadolinium-enhancing and 292 nonenhancing lesions. Using the equation published by Dousset et al. we studied 29 patients with clinically definite MS and 10 healthy controls. Lesions had significantly lower MT than the normal-appearing white matter of the patients or the normal white matter of healthy controls. There was no difference in the MTR of enhancing and nonenhancing lesions. Enhancement was homogeneous in 45 and ring-like in 20 lesions; MTR values were lower in the latter. These findings are presumably related to the differences in pathological features of enhancing (different amounts of proteins and inflammatory cells, oedema and demyelination) and nonenhancing (gliosis, demyelination and axonal loss) lesions.


Subject(s)
Brain/pathology , Contrast Media , Image Enhancement/instrumentation , Magnetic Resonance Imaging/instrumentation , Multiple Sclerosis/diagnosis , Organometallic Compounds , Pentetic Acid/analogs & derivatives , Adult , Dominance, Cerebral/physiology , Female , Gadolinium DTPA , Humans , Male , Middle Aged , Reference Values
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