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2.
Neuromuscul Disord ; 29(9): 657-663, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31471117

RESUMO

Bethlem myopathy represents the milder form of the spectrum of Collagen VI-related dystrophies, which are characterized by a clinical continuum between the two extremities, the Bethlem myopathy and the Ullrich congenital muscular dystrophy, and include less defined intermediate phenotypes. Bethlem myopathy is mainly an autosomal dominant disorder and the causing mutations occur in the COL6A genes encoding for the α1 (COL6A1), α2 (COL6A2) and α3 (COL6A3) chains. However, few cases of recessive inheritance have been also reported. We here describe clinical, genetic and functional findings in a recessive Bethlem myopathy family harbouring two novel pathogenic mutations in the COL6A2 gene. Two adult siblings presented with muscle weakness and wasting, elbows and Achilles tendon retractions, lumbar hyperlordosis, waddling gait and positive Gowers' sign. Muscle biopsy showed a dystrophic pattern. Molecular analysis of the COL6A2 gene revealed the novel paternally-inherited nonsense p.Gln889* mutation and the maternally-inherited p.Pro260_Lys261insProPro small insertion. Fibroblast studies in both affected patients showed the concomitant reduction in the amount of normal Collagen VI (p.Gln889*) and impairment of Collagen VI secretion and assembly (p.Pro260_Lys261insProPro). Each of the two variants behave as a recessive mutation as shown by the asymptomatic heterozygous parents, while their concomitant effects determined a relatively mild Bethlem myopathy phenotype. This study confirms the occurrence of recessive inherited Bethlem myopathy and expands the genetic heterogeneity of this group of muscle diseases.

4.
Neuroradiology ; 61(8): 853-860, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31028423

RESUMO

PURPOSE: Radiological hallmark of autoimmune limbic encephalitis (LE) is a hyperintense signal in MRI T2-weighted images of mesial temporal structures. We aimed to identify conventional magnetic resonance imaging (MRI) features that can help distinguish LE from temporal glioma. METHODS: Brain MRIs of 25 patients affected by antibody-positive autoimmune LE, 24 patients affected by temporal glioma (tumor group), and 5 negative controls were retrospectively blindly evaluated in random order. RESULTS: Ten brain MRIs from the LE group were correctly recognized; one additional patient with mesial temporal hyperintensity with anti-AK5 abs LE was wrongly diagnosed as having a tumor. The brain MRIs of the remaining 14 of the 25 patients with LE were judged negative or, in three cases, showed features not typical for LE. In the tumor group, all MRIs showed pathological alterations diagnosed as tumors in 22/24 cases and as LE in two (2/22, 9%). Unilateral lesions were more common in tumors than in neuroradiologically abnormal LE (96% vs. 18%, p < 0.001). T2/FLAIR hyperintensity of the parahippocampal gyrus was associated more with tumor than with LE (71% vs. 18%) (p = 0,009), as T2/FLAIR hyperintensity of extralimbic structures (p = 0.015), edema (p = 0.041), and mass effect (p = 0.015). Maintenance of gray/white matter distinction was strongly associated with LE (91% vs. 17%, p < 0.001). CONCLUSION: Conventional brain MRI is a fundamental tool in the differential diagnosis between LE and glioma. Bilateral involvement and maintenance of gray/white matter distinction at the cortical/subcortical interface are highly suggestive of LE.

5.
Mol Genet Metab ; 126(4): 489-494, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30826161

RESUMO

BACKGROUND: Aicardi-Goutières syndrome (AGS) is a rare genetic leukoencephalopathy related to inappropriate activation of type I interferon. Neuroradiological findings are typically characterized by white matter abnormalities, cerebral atrophy and cerebral calcification. The disease usually manifests itself during the first year of life in the form of an initial "encephalitic-like" phase followed by a chronic phase of stabilization of the neurological signs. Recently new therapeutic strategies have been proposed aimed at blocking the abnormal activation of the interferon cascade. MATERIALS AND METHODS: We reviewed clinical and MRI findings in three young RNASEH2B-mutated patients studied with serial CT and MRI studies. RESULTS: All three patients presented clinical and MRI features consistent with AGS but, very unexpectedly, an improving neuroradiological course. In patient 1, the MRI improvement was noted some months after treatment with high-dose steroid and IVIg treatment; in patients 2 and 3 it occurred spontaneously. Patient 2 did not show cerebral calcification on CT images. CONCLUSIONS: Our series highlights the possibility of spontaneous neuroradiological improvement in AGS2 patients, as well as the possibility of absence of cerebral calcification in AGS. The study underlines the need for extreme caution when using MRI as an outcome measure in therapeutic trials specific for this disease. MRI follow-up studies in larger series are necessary to describe the natural course of AGS.

6.
J Neurol Sci ; 400: 15-20, 2019 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-30878635

RESUMO

OBJECTIVE: In this study we investigated the potential of magnetic resonance (MR) micro-neurography to detect morphological and relaxometric changes in distal tibial nerves in patients affected with chronic inflammatory demyelinating polyneuropathy (CIDP), and their associations with clinical and electrophysiological features. MATERIALS AND METHODS: 10 subjects affected with CIDP and 10 healthy subjects were examined. Multiple MR parameters, including the number of fascicles (N), fascicles diameter (FD), total fascicles area (FA), epineurium area (EA), total nerve area (NA), fascicles to nerve ratio (FNR) and quantitative T2 and proton density (PD) were investigated on high resolution MR images of the distal tibial nerve. Those parameters were correlated with clinical scores, age of onset, disease duration and electrophysiologic data. RESULTS: Median NA and FA were significantly increased in the CIDP population (median values for NA in cm2 in CIDP: 0.185; controls: 0.135; p: 0.028; for FA in CIDP 0.136; controls 0.094; p: 0.021). There was no correlation between the parameters investigated and clinical or electrophysiologic features. CONCLUSION: MR microneurography can detect increased total nerve and fascicle area in distal tibial nerves in CIDP and may be useful for diagnosing CIDP.

7.
Radiol Med ; 124(7): 628-635, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30852791

RESUMO

OBJECTIVE: To assess whether structured reports (SRs) of MRI in patients with inherited neuromuscular disorders (IND) provide more clinically relevant information than non-structured reports (NSRs) and whether neuroradiologists' expertise affects completeness of reports. MATERIAL AND METHODS: Lower limbs' MRI reports of patients with IND produced by neuroradiologists with different level of expertise (> 15 years vs. < 15 years of experience in reading IND-MRI) before and after implementation of a SR template were included. Reports were assessed for the presence of 9 key features relevant for IND management. Reports and images were evaluated by neurologists who assessed: disease-specific muscular involvement pattern; presence of sufficient information to order the appropriate genetic/diagnostic tests; presence of sufficient information to make therapeutic decision/perform biopsy and necessity to review MRI images. Mann-Whitney and Fisher's exact tests were used to compare the number of key features for NSR and SR and neurologists' answers for reports produced by neuroradiologists with different experience. RESULTS: Thirty-one SRs and 101 NSRs were reviewed. A median of 8 and 6 key features was present in SR and NSR, respectively (p value < 0.0001). When reports were produced by less expert neuroradiologists, neurologists recognized muscular involvement pattern, had sufficient information for clinical decision-making/perform biopsy more often with SR than NSR (p values: < 0.0001), and needed to evaluate images less often with SR (p value: 0.0001). When reports produced by expert neuroradiologists were evaluated, no significant difference in neurologists' answers was observed. CONCLUSION: SR of IND-MRI contained more often clinically relevant information considered important for disease management than NSR. Radiologist's expertise affects completeness of NSR reports.


Assuntos
Extremidade Inferior , Imagem por Ressonância Magnética/métodos , Registros Médicos/normas , Doenças Neuromusculares/diagnóstico por imagem , Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
8.
Eur J Neurol ; 2018 Nov 24.
Artigo em Inglês | MEDLINE | ID: mdl-30471162

RESUMO

BACKGROUND: Patients with history of brain radiotherapy can experience acute "stroke-like" syndromes related to the delayed effects of brain radiation, including "Stroke-like Migraine Attacks after Radiation Therapy (SMART)", "Peri-Ictal Pseudoprogression (PIPG)", and "Acute Late-onset Encephalopathy after Radiation Therapy (ALERT)" syndrome. The aim of this study is to collect evidence on the long-term outcome and treatment of these conditions, whose knowledge is undermined by their rarity and fragmented description. METHODS: Cases were collected, both prospectively and retrospectively, among six neuro-oncology departments. Inclusion criteria were: 1) history of brain radiotherapy (completed from at least 6 months); 2) new onset of acute/subacute neurological symptoms; 3) exclusion of all etiologies unrelated to brain irradiation. A review of current literature on "stroke-like" syndromes was performed to corroborate our findings. RESULTS: Thirty-two patients with acute neurological conditions attributed to the delayed effects of radiation were identified, including 26 patients with "stroke-like" syndromes. Patients with "stroke-like" syndromes commonly presented with a mosaic of symptoms, including focal deficits (77%), encephalopathy (50%), seizures (35%) and headache (35%). Seventy-three percent of them had acute consistent MRI alterations. Treatment included high-dose steroids in 65% of cases. Twenty-two patients recovered completely (85%). Sixteen patients (62%) experienced relapses (median follow-up: 3.5 years). Literature review identified 87 additional "stroke-like" cases with similar characteristics. CONCLUSIONS: "Stroke-like" events related to brain irradiation may be associated with permanent sequelae. Steroids are often administered on empirical grounds, as they are thought to accelerate recovery. Relapses are common, highlighting the need to elaborate adequate prevention strategies. This article is protected by copyright. All rights reserved.

9.
BMC Med Genomics ; 11(1): 87, 2018 Sep 29.
Artigo em Inglês | MEDLINE | ID: mdl-30268123

RESUMO

BACKGROUND: Mutations occurring in the orthodenticle homeobox 2 gene (OTX2) are responsible for a rare genetic syndrome, characterized mainly by microphthalmia/anophthalmia associated with extra-ocular defects such as brain malformations, pituitary abnormalities, short stature and intellectual disability. To date, the spectrum of radiological features observed in patients with OTX2 mutations has never been summarized. CASE PRESENTATION: In this report, we describe a case of large microdeletion encompassing OTX2 but not BMP4 presenting with a syndromic anophthalmia with corpus callosum hypoplasia, pituitary gland hypoplasia and vermian hypoplasia. CONCLUSION: Our case report provides an illustration of the neuroradiological spectrum in a case of OTX2-related syndrome and the first radiological evidence of 14q22.2q23.1 deletion associated posterior cranial fossa anomalies.

10.
Neurology ; 91(12): e1112-e1124, 2018 Sep 18.
Artigo em Inglês | MEDLINE | ID: mdl-30171078

RESUMO

OBJECTIVE: To delineate the electroclinical features of SCN8A infantile developmental and epileptic encephalopathy (EIEE13, OMIM #614558). METHODS: Twenty-two patients, aged 19 months to 22 years, underwent electroclinical assessment. RESULTS: Sixteen of 22 patients had mildly delayed development since birth. Drug-resistant epilepsy started at a median age of 4 months, followed by developmental slowing, pyramidal/extrapyramidal signs (22/22), movement disorders (12/22), cortical blindness (17/22), sialorrhea, and severe gastrointestinal symptoms (15/22), worsening during early childhood and plateauing at age 5 to 9 years. Death occurred in 4 children, following extreme neurologic deterioration, at 22 months to 5.5 years. Nonconvulsive status epilepticus recurred in 14 of 22 patients. The most effective antiepileptic drugs were oxcarbazepine, carbamazepine, phenytoin, and benzodiazepines. EEG showed background deterioration, epileptiform abnormalities with a temporo-occipital predominance, and posterior delta/beta activity correlating with visual impairment. Video-EEG documented focal seizures (FS) (22/22), spasm-like episodes (8/22), cortical myoclonus (8/22), and myoclonic absences (1/22). FS typically clustered and were prolonged (<20 minutes) with (1) cyanosis, hypomotor, and vegetative semiology, sometimes unnoticed, followed by (2) tonic-vibratory and (3) (hemi)-clonic manifestations ± evolution to a bilateral tonic-clonic seizure. FS had posterior-temporal/occipital onset, slowly spreading and sometimes migrating between hemispheres. Brain MRI showed progressive parenchymal atrophy and restriction of the optic radiations. CONCLUSIONS: SCN8A developmental and epileptic encephalopathy has strikingly consistent electroclinical features, suggesting a global progressive brain dysfunction primarily affecting the temporo-occipital regions. Both uncontrolled epilepsy and developmental compromise contribute to the profound impairment (increasing risk of death) during early childhood, but stabilization occurs in late childhood.

11.
Skeletal Radiol ; 2018 Sep 17.
Artigo em Inglês | MEDLINE | ID: mdl-30225607

RESUMO

The authors set out to study the role of T1-weighted muscle MRI in the diagnostic phase of ALS, comparing images from ten patients and nine age-matched healthy controls (HCs). All subjects underwent MRI of 68 muscles in the hands, paraspinal regions and lower limbs; the images were semi-quantitatively scored. Atrophy was more frequent in muscles of ALS patients than HCs (p < 0.0001); fatty infiltration was particularly marked in iliopsoas (p = 0.046), anterior (p = 0.020) and posterior (p = 0.047) calf muscles in patients. A trend towards agreement was found between MRI and clinic-EMG data for the first dorsal interosseous, paraspinal, and tibial anterior muscles. Muscle T1-weighted MRI can distinguish ALS patients from HCs for specific regions (i.e., legs). MRI abnormalities could be found in pauci-symptomatic spinal muscles in bulbar-onset patients. Muscle MRI may be a useful diagnostic tool in ALS, in particular for muscles difficult to investigate using clinical-EMG methods.

12.
Orphanet J Rare Dis ; 13(1): 135, 2018 Aug 16.
Artigo em Inglês | MEDLINE | ID: mdl-30111349

RESUMO

BACKGROUND: We present a group of patients affected by a paediatric onset genetic encephalopathy with cerebral calcification of unknown aetiology studied with Next Generation Sequencing (NGS) genetic analyses. METHODS: We collected all clinical and radiological data. DNA samples were tested by means of a customized gene panel including fifty-nine genes associated with known genetic diseases with cerebral calcification. RESULTS: We collected a series of fifty patients. All patients displayed complex and heterogeneous phenotypes mostly including developmental delay and pyramidal signs and less frequently movement disorder and epilepsy. Signs of cerebellar and peripheral nervous system involvement were occasionally present. The most frequent MRI abnormality, beside calcification, was the presence of white matter alterations; calcification was localized in basal ganglia and cerebral white matter in the majority of cases. Sixteen out of fifty patients tested positive for mutations in one of the fifty-nine genes analyzed. In fourteen cases the analyses led to a definite genetic diagnosis while results were controversial in the remaining two. CONCLUSIONS: Genetic encephalopathies with cerebral calcification are usually associated to complex phenotypes. In our series, a molecular diagnosis was achieved in 32% of cases, suggesting that the molecular bases of a large number of disorders are still to be elucidated. Our results confirm that cerebral calcification is a good criterion to collect homogeneous groups of patients to be studied by exome or whole genome sequencing; only a very close collaboration between clinicians, neuroradiologists and geneticists can provide better results from these new generation molecular techniques.

13.
Epileptic Disord ; 20(3): 209-213, 2018 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-29905159

RESUMO

Common postictal MRI findings include transient cortical T2 hyperintensity, restricted diffusion, and gyral and/or adjacent leptomeningeal contrast enhancement. In certain uncommon pathological conditions, other signal abnormalities can be present, suggesting a different underlying pathogenic mechanism. We report the case of a 66-year-old man, recently diagnosed with diabetes mellitus type 2, presenting with new-onset visual and auditory hallucinations, "absence" seizures, and repeated peaks of hyperglycaemia without hyperketonaemia or increased serum osmolarity. EEG confirmed epileptic discharges in the right temporal region and MRI showed vast subcortical T2 hypointensity in the right temporal lobe, without any cortical hyperintensity, restricted diffusion, or contrast enhancement. Subcortical signal abnormality and EEG discharges resolved after a month of follow-up, with a small juxtacortical gliotic focus as a sequela. Peaks in hyperglycaemia have been reported to be responsible for T2 hypointense subcortical abnormalities through a proconvulsant mechanism linked to increased ketone body concentrations. Hyperosmolarity and hyperketonaemia were not evident in this case, however, transient accumulation of free radicals that alter the intercellular space can be considered the presumable cause of this finding. In summary, it is important to consider any unusual findings on postictal MRI in order to avoid errors in interpretation.


Assuntos
Encéfalo/diagnóstico por imagem , Diabetes Mellitus Tipo 2/diagnóstico por imagem , Convulsões/diagnóstico por imagem , Idoso , Humanos , Imagem por Ressonância Magnética , Masculino
14.
Neuromuscul Disord ; 28(6): 476-483, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29661643

RESUMO

The aim of this study was to determine muscle tissue elasticity, measured with shear-wave elastography, in selected lower limb muscles of patients affected by Duchenne muscular dystrophy (DMD) and to correlate the values obtained with those recorded in healthy children and with muscle magnetic resonance imaging (MRI) data from the same DMD children, specifically the pattern on T1-weighted (w) and short-tau inversion recovery (STIR) sequences. Five preschool DMD children and five age-matched healthy children were studied with shear-wave elastography. In the DMD children, muscle stiffness was moderately higher compared with the muscle stiffness in HC, in the rectus femoris, vastus lateralis, adductor magnus and gluteus maximus muscles. On muscle MRI T1-w images showed fatty replacement in 3/5 patients at the level of the GM, while thigh and leg muscles were affected in 2/5; hyperintensity on STIR images was identified in 4/5 patients. No significant correlation was observed between stiffness values and MRI scoring. Our study demonstrated that lower limb muscles of preschool DMD patients show fatty replacement and patchy edema on muscle MRI and increased stiffness on shear-wave elastography. In conclusion, although further studies in larger cohorts are needed, shear-wave elastography could be considered a useful non-invasive tool to easily monitor muscle changes in early stages of the disease.

15.
Orphanet J Rare Dis ; 13(1): 45, 2018 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-29615062

RESUMO

BACKGROUND: KARS encodes lysyl- transfer ribonucleic acid (tRNA) synthetase, which catalyzes the aminoacylation of tRNA-Lys in the cytoplasm and mitochondria. Eleven families/sporadic patients and 16 different mutations in KARS have been reported to date. The associated clinical phenotype is heterogeneous ranging from early onset encephalopathy to isolated peripheral neuropathy or nonsyndromic hearing impairment. Recently additional presentations including leukoencephalopathy as predominant cerebral involvement or cardiomyopathy, isolated or associated with muscular and cerebral involvement, have been reported. A progressive Leukoencephalopathy with brainstem and spinal cord calcifications was previously described in a singleton patient and in two siblings, without the identification of the genetic cause. We reported here about a new severe phenotype associated with biallelic KARS mutations and sharing some common points with the other already reported phenotypes, but with a distinct clinical and neuroimaging picture. Review of KARS mutant patients published to date will be also discussed. RESULTS: Herein, we report the clinical, biochemical and molecular findings of 2 unreported Italian patients affected by developmental delay, acquired microcephaly, spastic tetraparesis, epilepsy, sensory-neural hypoacusia, visual impairment, microcytic hypochromic anaemia and signs of hepatic dysfunction. MRI pattern in our patients was characterized by progressive diffuse leukoencephalopathy and calcifications extending in cerebral, brainstem and cerebellar white matter, with spinal cord involvement. Genetic analysis performed on these 2 patients and in one subject previously described with similar MRI pattern revealed the presence of biallelic mutations in KARS in all 3 subjects. CONCLUSIONS: With our report we define the molecular basis of the previously described Leukoencephalopathy with Brainstem and Spinal cord Calcification widening the spectrum of KARS related disorders, particularly in childhood onset disease suggestive for mitochondrial impairment. The review of previous cases does not suggest a strict and univocal genotype/phenotype correlation for this highly heterogeneous entity. Moreover, our cases confirm the usefulness of search for common brain and spine MR imaging pattern and of broad genetic screening, in syndromes clinically resembling mitochondrial disorders in spite of normal biochemical assay.

16.
Eur J Paediatr Neurol ; 22(2): 336-339, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29396177

RESUMO

FOXG1-related syndrome is a developmental encephalopathy with a high phenotypic variability. A movement disorder presenting at onset is one of the main features, along with microcephaly and severe psychomotor delay without regression. Specific brain MRI findings facilitate the diagnosis. We report three cases of FOXG1-related syndrome, focusing on clinical onset, brain MRI and evolution over time in order to identify common features despite the three different underlying genotypes (14q12 deletion including the FOXG1 gene, FOXG1 intragenic mutation, 14q12 deletion including PRKD1 and a region regulating FOXG1 expression). In conclusion, we stress the importance of considering genetic syndromes in the differential diagnosis of early-onset movement disorders.


Assuntos
Encefalopatias/genética , Encefalopatias/patologia , Fatores de Transcrição Forkhead/genética , Transtornos dos Movimentos/genética , Proteínas do Tecido Nervoso/genética , Cromossomos Humanos Par 14 , Feminino , Genótipo , Humanos , Masculino , Transtornos dos Movimentos/patologia , Mutação , Deleção de Sequência
17.
J Neurol Neurosurg Psychiatry ; 89(1): 72-77, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28889091

RESUMO

OBJECTIVES: To characterise the pattern and spectrum of involvement on muscle MRI in a large cohort of patients with sarcoglycanopathies, which are limb-girdle muscular dystrophies (LGMD2C-2F) caused by mutations in one of the four genes coding for muscle sarcoglycans. METHODS: Lower limb MRI scans of patients with LGMD2C-2F, ranging from severe childhood variants to milder adult-onset forms, were collected in 17 neuromuscular referral centres in Europe and USA. Muscle involvement was evaluated semiquantitatively on T1-weighted images according to a visual score, and the global pattern was assessed as well. RESULTS: Scans from 69 patients were examined (38 LGMD2D, 18 LGMD2C, 12 LGMD2E and 1 LGMD2F). A common pattern of involvement was found in all the analysed scans irrespective of the mutated gene. The most and earliest affected muscles were the thigh adductors, glutei and posterior thigh groups, while lower leg muscles were relatively spared even in advanced disease. A proximodistal gradient of involvement of vasti muscles was a consistent finding in these patients, including the most severe ones. CONCLUSIONS: Muscle involvement on MRI is consistent in patients with LGMD2C-F and can be helpful in distinguishing sarcoglycanopathies from other LGMDs or dystrophinopathies, which represent the most common differential diagnoses. Our data provide evidence about selective susceptibility or resistance to degeneration of specific muscles when one of the sarcoglycans is deficient, as well as preliminary information about progressive involvement of the different muscles over time.


Assuntos
Imagem por Ressonância Magnética/métodos , Sarcoglicanopatias/genética , Sarcoglicanas/genética , Adolescente , Adulto , Criança , Pré-Escolar , Europa (Continente) , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/patologia , Mutação , Fenótipo , Sarcoglicanas/deficiência , Estados Unidos
18.
AJR Am J Roentgenol ; 210(1): 24-29, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28952814

RESUMO

OBJECTIVE: Few data are available on how often MRI reports provide sufficient information for clinical decision making in patients with multiple sclerosis (MS). The aim of this study is to evaluate if structured reporting of MRI in MS contain adequate information for clinical decision making compared with nonstructured reporting. MATERIALS AND METHODS: Brain and spinal cord MRI reports of patients with suspected or known MS before and after implementation of a structured reporting template were included. Brain and spinal cord MRI reports were assessed for presence of 11 and three key features relevant for management of MS, respectively. Three neurologists evaluated reports and images to assess lesion load, presence of sufficient information for clinical decision making, and necessity to review MR images for clinical decision making. Statistical analysis included t tests and chi-square tests. RESULTS: Thirty-two structured and 37 nonstructured reports were reviewed. Brain MRI nonstructured reports contained a mean ± SD of 3.59 ± 0.76 key features, and structured reports contained a mean of 10.25 ± 1.32 key features (p < 0.001). No significant difference was observed in the number of key features in nonstructured and structured spinal cord MRI reports. All neurologists could understand lesion load significantly more often when reading structured versus nonstructured reports (p < 0.001). For two of the three neurologists, structured reports contained adequate information for clinical decision making more often than did nonstructured reports (p < 0.001 and p = 0.006). When reading nonstructured reports, two of the three neurologists needed to evaluate images significantly more often (p < 0.001). CONCLUSION: Structured reports of MRI in patients with MS provided more adequate information for clinical decision making than nonstructured reports.


Assuntos
Tomada de Decisão Clínica , Imagem por Ressonância Magnética , Esclerose Múltipla/diagnóstico por imagem , Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/terapia , Estudos Retrospectivos , Adulto Jovem
19.
Mult Scler ; 24(13): 1743-1752, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28967297

RESUMO

BACKGROUND:: Transverse myelitis (TM) is an inflammatory disorder that can be idiopathic or associated with central nervous system autoimmune/dysimmune inflammatory diseases, connective tissue autoimmune diseases, or post-infectious neurological syndromes. Prognosis of initial TM presentations is uncertain. OBJECTIVE:: To identify outcome predictors in TM. METHODS:: Retrospective study on isolated TM at onset. Scores ⩾3 on the modified Rankin scale (mRS) marked high disability. RESULTS:: A total of 159 patients were identified. TM was classified as follows: idiopathic (I-TM, n = 53), post-infectious (PI-TM, n = 48), associated with multiple sclerosis (MS-TM, n = 51), or neuromyelitis optica spectrum disorders/connective tissue autoimmune diseases/neurosarcoidosis ( n = 7). At follow-up (median, 55 months; interquartile range, 32-80), 42 patients were severely disabled, and patients with I-TM or PI-TM showed the worst outcomes. Predictors of disability were infectious antecedents, sphincter and pyramidal symptoms, high mRS scores, blood-cerebrospinal fluid barrier damage, lumbar magnetic resonance imaging (MRI) lesions on univariate analysis, and older age (odds ratio (OR), 1.1; 95% confidence interval (CI), 1.0-1.1), overt/subclinical involvement of the peripheral nervous system (PNS) (OR, 9.4; 95% CI, 2.2-41.0), complete TM (OR, 10.8; 95% CI, 3.4-34.5) on multivariate analysis. CONCLUSION:: Our findings help define prognosis and therapies in TM at onset. Infectious antecedents and PNS involvement associate with severe prognosis. Nerve conduction studies and lumbar MRI could improve the prognostic assessment of this condition.

20.
Mult Scler ; 24(12): 1578-1584, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28805546

RESUMO

BACKGROUND: Some environmental factors have been already associated to increased risk of multiple sclerosis (MS), but it is plausible that additional factors might play a role. OBJECTIVE: To investigate in MS patients the relationship between inflammatory activity, detected by brain magnetic resonance imaging (MRI) with gadolinium (Gd), and air pollution, namely, particulate matters with diameter less than 10 µm (PM10). METHODS: We analyzed from 52 remitting MS patients 226 brain MRIs, 34% with (Gd+MRI) and 66% without (Gd-MRI) T1-Gd-enhancing lesions. Daily recording of PM10 in the 30 days before MRI examination was obtained by monitors depending on the residence of subjects. RESULTS: PM10 levels in the 5, 10, 15, 20, and 25 days before brain MRIs were higher (plus 16%, 21%, 24%, 25%, and 21%, respectively) with reference to Gd+MRI versus Gd-MRI. There was a significant association between Gd+MRI and PM10 levels ( p = 0.013), independent of immune therapies, smoker status, and season. In patients who had two repeated MRIs with opposite outcomes (Gd-MRI and Gd+MRI), PM10 levels were strongly higher in concurrence with Gd+MRI ( p < 0.0001). CONCLUSION: Our findings suggest that air pollution may be a risk factor for MS favoring inflammatory exacerbations.

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