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1.
Nat Rev Neurol ; 20(10): 620-635, 2024 10.
Artículo en Inglés | MEDLINE | ID: mdl-39227463

RESUMEN

Myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD) is an immune-mediated demyelinating disease that is challenging to differentiate from multiple sclerosis (MS), as the clinical phenotypes overlap, and people with MOGAD can fulfil the current MRI-based diagnostic criteria for MS. In addition, the MOG antibody assays that are an essential component of MOGAD diagnosis are not standardized. Accurate diagnosis of MOGAD is crucial because the treatments and long-term prognosis differ from those for MS. This Expert Recommendation summarizes the outcomes from a Magnetic Resonance Imaging in MS workshop held in Oxford, UK in May 2022, in which MS and MOGAD experts reflected on the pathology and clinical features of these disorders, the contributions of MRI to their diagnosis and the clinical use of the MOG antibody assay. We also critically reviewed the literature to assess the validity of distinctive imaging features in the current MS and MOGAD criteria. We conclude that dedicated orbital and spinal cord imaging (with axial slices) can inform MOGAD diagnosis and also illuminate differential diagnoses. We provide practical guidance to neurologists and neuroradiologists on how to navigate the current MOGAD and MS criteria. We suggest a strategy that includes useful imaging discriminators on standard clinical MRI and discuss imaging features detected by non-conventional MRI sequences that demonstrate promise in differentiating these two disorders.


Asunto(s)
Imagen por Resonancia Magnética , Esclerosis Múltiple , Glicoproteína Mielina-Oligodendrócito , Humanos , Glicoproteína Mielina-Oligodendrócito/inmunología , Esclerosis Múltiple/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Autoanticuerpos/sangre , Autoanticuerpos/inmunología , Diagnóstico Diferencial
2.
J Peripher Nerv Syst ; 29(3): 368-375, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39056278

RESUMEN

BACKGROUND AND AIMS: Histopathological diagnosis is the gold standard in many acquired inflammatory, infiltrative and amyloid based peripheral nerve diseases and a sensory nerve biopsy of sural or superficial peroneal nerve is favoured where a biopsy is deemed necessary. The ability to determine nerve pathology by high-resolution imaging techniques resolving anatomy and imaging characteristics might improve diagnosis and obviate the need for biopsy in some. The sural nerve is anatomically variable and occasionally adjacent vessels can be sent for analysis in error. Knowing the exact position and relationships of the nerve prior to surgery could be clinically useful and thus reliably resolving nerve position has some utility. METHODS: 7T images of eight healthy volunteers' (HV) right ankle were acquired in a pilot study using a double-echo in steady-state sequence for high-resolution anatomy images. Magnetic Transfer Ratio images were acquired of the same area. Systematic scoring of the sural, tibial and deep peroneal nerve around the surgical landmark 7 cm from the lateral malleolus was performed (number of fascicles, area in voxels and mm2, diameter and location relative to nearby vessels and muscles). RESULTS: The sural and tibial nerves were visualised in the high-resolution double-echo in steady-state (DESS) image in all HV. The deep peroneal nerve was not always visualised at level of interest. The MTR values were tightly grouped except in the sural nerve where the nerve was not visualised in two HV. The sural nerve location was found to be variable (e.g., lateral or medial to, or crossing behind, or found positioned directly posterior to the saphenous vein). INTERPRETATION: High-resolution high-field images have excellent visualisation of the sural nerve and would give surgeons prior knowledge of the position before surgery. Basic imaging characteristics of the sural nerve can be acquired, but more detailed imaging characteristics are not easily evaluable in the very small sural and further developments and specific studies are required for any diagnostic utility at 7T.


Asunto(s)
Voluntarios Sanos , Imagen por Resonancia Magnética , Nervio Sural , Humanos , Nervio Sural/anatomía & histología , Nervio Sural/diagnóstico por imagen , Adulto , Masculino , Femenino , Proyectos Piloto , Adulto Joven , Nervio Peroneo/diagnóstico por imagen , Nervio Peroneo/anatomía & histología
3.
Brain ; 2024 Jul 24.
Artículo en Inglés | MEDLINE | ID: mdl-39045667

RESUMEN

The interaction between ageing and multiple sclerosis is complex and carries significant implications for patient care. Managing multiple sclerosis effectively requires an understanding of how ageing and multiple sclerosis impact brain structure and function. Ageing inherently induces brain changes, including reduced plasticity, diminished grey matter volume, and ischaemic lesion accumulation. When combined with multiple sclerosis pathology, these age-related alterations may worsen clinical disability. Ageing may also influence the response of multiple sclerosis patients to therapies and/or their side-effects, highlighting the importance of adjusted treatment considerations. Magnetic resonance MRI is highly sensitive to age- and multiple sclerosis-related processes. Accordingly, MRI can provide insights into the relationship between ageing and multiple sclerosis, enabling a better understanding of their pathophysiological interplay and informing treatment selection. This review summarizes current knowledge on the immuno-pathological and MRI aspects of ageing in the central nervous system in the context of multiple sclerosis. Starting from immunosenescence, ageing-related pathological mechanisms, and specific features like enlarged Virchow-Robin spaces, this review then explores clinical aspects, including late-onset multiple sclerosis, the influence of age on diagnostic criteria, and comorbidity effects on imaging features. The role of MRI in understanding neurodegeneration, iron dynamics, and myelin changes influenced by ageing and how MRI can contribute to defining treatment effects in ageing multiple sclerosis patients, are also discussed.

4.
Eur Radiol Exp ; 8(1): 85, 2024 Jul 25.
Artículo en Inglés | MEDLINE | ID: mdl-39060637

RESUMEN

BACKGROUND: Magnetic resonance imaging (MRI) quantification of intramuscular fat accumulation is a responsive biomarker in neuromuscular diseases. Despite emergence of automated methods, manual muscle segmentation remains an essential foundation. We aimed to develop a training programme for new observers to demonstrate competence in lower limb muscle segmentation and establish reliability benchmarks for future human observers and machine learning segmentation packages. METHODS: The learning phase of the training programme comprised a training manual, direct instruction, and eight lower limb MRI scans with reference standard large and small regions of interest (ROIs). The assessment phase used test-retest scans from two patients and two healthy controls. Interscan and interobserver reliability metrics were calculated to identify underperforming outliers and to determine competency benchmarks. RESULTS: Three experienced observers undertook the assessment phase, whilst eight new observers completed the full training programme. Two of the new observers were identified as underperforming outliers, relating to variation in size or consistency of segmentations; six had interscan and interobserver reliability equivalent to those of experienced observers. The calculated benchmark for the Sørensen-Dice similarity coefficient between observers was greater than 0.87 and 0.92 for individual thigh and calf muscles, respectively. Interscan and interobserver reliability were significantly higher for large than small ROIs (all p < 0.001). CONCLUSIONS: We developed, implemented, and analysed the first formal training programme for manual lower limb muscle segmentation. Large ROI showed superior reliability to small ROI for fat fraction assessment. RELEVANCE STATEMENT: Observers competent in lower limb muscle segmentation are critical to application of quantitative muscle MRI biomarkers in neuromuscular diseases. This study has established competency benchmarks for future human observers or automated segmentation methods. KEY POINTS: • Observers competent in muscle segmentation are critical for quantitative muscle MRI biomarkers. • A training programme for muscle segmentation was undertaken by eight new observers. • We established competency benchmarks for future human observers or automated segmentation methods.


Asunto(s)
Extremidad Inferior , Imagen por Resonancia Magnética , Músculo Esquelético , Humanos , Imagen por Resonancia Magnética/métodos , Músculo Esquelético/diagnóstico por imagen , Extremidad Inferior/diagnóstico por imagen , Masculino , Reproducibilidad de los Resultados , Adulto , Femenino , Variaciones Dependientes del Observador , Persona de Mediana Edad
5.
BMC Oral Health ; 24(1): 609, 2024 May 25.
Artículo en Inglés | MEDLINE | ID: mdl-38796434

RESUMEN

BACKGROUND: High speed electric handpieces have recently been growing in popularity among dental professionals. Advantages include smoother surface preparation and increased cutting efficiency. AIM: The primary objective was to compare enamel surface roughness following resin cleanup after bracket debonding using highspeed air turbine versus electric handpiece. The secondary objective was to record the time needed for resin-clean up. METHOD: Forty deidentified freshly extracted human premolars were cleaned and sectioned at the cement-enamel junction. The crowns were embedded in acrylic blocks. Enamel surface roughness parameters (Ra, Rz, Rp and Rv) were measured using a stylus profilometer. Brackets were bonded using a light-cure orthodontic adhesive and stored in distilled water for 24 h. Following bracket debonding, the specimens were randomly divided into 2 groups: First group: resin clean-up was carried out using a 12-fluted carbide bur mounted on a high-speed air turbine; and second group: where an electric handpiece was used. Surface roughness parameters were measured following resin clean up and after polishing using pumice and a rubber cup. Time needed for resin clean-up was recorded. Differences in enamel surface roughness and time between groups were compared using repeated measures ANOVA and independent samples t-test, respectively at P ≤ 0.05. RESULTS: The electric handpiece groups showed significantly higher values for Ra, Rz and Rp both following resin cleanup and polishing. Time taken for resin cleanup was significantly longer for the electric handpiece group. CONCLUSION: Considering both surface roughness and time, electric handpiece do not seem to add greater effectiveness or efficiency to resin cleanup following orthodontic bracket debonding.


Asunto(s)
Desconsolidación Dental , Esmalte Dental , Equipo Dental de Alta Velocidad , Propiedades de Superficie , Humanos , Desconsolidación Dental/métodos , Técnicas In Vitro , Cementos de Resina/química , Soportes Ortodóncicos , Factores de Tiempo , Diente Premolar , Pulido Dental/métodos
6.
Lancet Neurol ; 23(3): 302-312, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38365381

RESUMEN

The recent commercialisation of the first disease-modifying drugs for Alzheimer's disease emphasises the need for consensus recommendations on the rational use of biomarkers to diagnose people with suspected neurocognitive disorders in memory clinics. Most available recommendations and guidelines are either disease-centred or biomarker-centred. A European multidisciplinary taskforce consisting of 22 experts from 11 European scientific societies set out to define the first patient-centred diagnostic workflow that aims to prioritise testing for available biomarkers in individuals attending memory clinics. After an extensive literature review, we used a Delphi consensus procedure to identify 11 clinical syndromes, based on clinical history and examination, neuropsychology, blood tests, structural imaging, and, in some cases, EEG. We recommend first-line and, if needed, second-line testing for biomarkers according to the patient's clinical profile and the results of previous biomarker findings. This diagnostic workflow will promote consistency in the diagnosis of neurocognitive disorders across European countries.


Asunto(s)
Enfermedad de Alzheimer , Humanos , Enfermedad de Alzheimer/diagnóstico , Europa (Continente) , Biomarcadores , Consenso , Sociedades Científicas
7.
Neuroradiology ; 66(4): 463-476, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38353699

RESUMEN

Raising public awareness about the relevance of supporting sustainable practices is required owing to the phenomena of global warming caused by the rising production of greenhouse gases. The healthcare sector generates a relevant proportion of the total carbon emissions in developed countries, and radiology is estimated to be a major contributor to this carbon footprint. Neuroradiology markedly contributes to this negative environmental effect, as this radiological subspecialty generates a high proportion of diagnostic and interventional imaging procedures, the majority of them requiring high energy-intensive equipment. Therefore, neuroradiologists and neuroradiological departments are especially responsible for implementing decisions and initiatives able to reduce the unfavourable environmental effects of their activities, by focusing on four strategic pillars-reducing energy, water, and helium use; properly recycling and/or disposing of waste and residues (including contrast media); encouraging environmentally friendly behaviour; and reducing the effects of ionizing radiation on the environment. The purpose of this article is to alert neuroradiologists about their environmental responsibilities and to analyse the most productive strategic axes, goals, and lines of action that contribute to reducing the environmental impact associated with their professional activities.


Asunto(s)
Gases de Efecto Invernadero , Radiología , Humanos , Huella de Carbono , Radiólogos
8.
Brain ; 147(5): 1887-1898, 2024 May 03.
Artículo en Inglés | MEDLINE | ID: mdl-38193360

RESUMEN

RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous in terms of age of onset, disease progression and phenotype. We investigated the role of the repeat size in influencing clinical variables in RFC1 disease. We also assessed the presence and role of meiotic and somatic instability of the repeat. In this study, we identified 553 patients carrying biallelic RFC1 expansions and measured the repeat expansion size in 392 cases. Pearson's coefficient was calculated to assess the correlation between the repeat size and age at disease onset. A Cox model with robust cluster standard errors was adopted to describe the effect of repeat size on age at disease onset, on age at onset of each individual symptoms, and on disease progression. A quasi-Poisson regression model was used to analyse the relationship between phenotype and repeat size. We performed multivariate linear regression to assess the association of the repeat size with the degree of cerebellar atrophy. Meiotic stability was assessed by Southern blotting on first-degree relatives of 27 probands. Finally, somatic instability was investigated by optical genome mapping on cerebellar and frontal cortex and unaffected peripheral tissue from four post-mortem cases. A larger repeat size of both smaller and larger allele was associated with an earlier age at neurological onset [smaller allele hazard ratio (HR) = 2.06, P < 0.001; larger allele HR = 1.53, P < 0.001] and with a higher hazard of developing disabling symptoms, such as dysarthria or dysphagia (smaller allele HR = 3.40, P < 0.001; larger allele HR = 1.71, P = 0.002) or loss of independent walking (smaller allele HR = 2.78, P < 0.001; larger allele HR = 1.60; P < 0.001) earlier in disease course. Patients with more complex phenotypes carried larger expansions [smaller allele: complex neuropathy rate ratio (RR) = 1.30, P = 0.003; cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) RR = 1.34, P < 0.001; larger allele: complex neuropathy RR = 1.33, P = 0.008; CANVAS RR = 1.31, P = 0.009]. Furthermore, larger repeat expansions in the smaller allele were associated with more pronounced cerebellar vermis atrophy (lobules I-V ß = -1.06, P < 0.001; lobules VI-VII ß = -0.34, P = 0.005). The repeat did not show significant instability during vertical transmission and across different tissues and brain regions. RFC1 repeat size, particularly of the smaller allele, is one of the determinants of variability in RFC1 disease and represents a key prognostic factor to predict disease onset, phenotype and severity. Assessing the repeat size is warranted as part of the diagnostic test for RFC1 expansion.


Asunto(s)
Edad de Inicio , Proteína de Replicación C , Humanos , Masculino , Femenino , Proteína de Replicación C/genética , Adulto , Expansión de las Repeticiones de ADN/genética , Persona de Mediana Edad , Adulto Joven , Adolescente , Niño , Fenotipo , Índice de Severidad de la Enfermedad , Preescolar , Progresión de la Enfermedad
9.
Ann Clin Transl Neurol ; 11(3): 607-617, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38173284

RESUMEN

OBJECTIVE: With potential therapies for many forms of Charcot-Marie-Tooth disease (CMT), responsive outcome measures are urgently needed for clinical trials. Quantitative lower limb MRI demonstrated progressive calf intramuscular fat accumulation in the commonest form, CMT1A with large responsiveness. In this study, we evaluated the responsiveness and validity in the three other common forms, due to variants in GJB1 (CMTX1), MPZ (CMT1B) and MFN2 (CMT2A). METHODS: 22 CMTX1, 21 CMT1B and 21 CMT2A patients and matched controls were assessed at a 1-year interval. Intramuscular fat fraction (FF) was evaluated using three-point Dixon MRI at thigh and calf level along with clinical measures including CMT examination score, clinical strength assessment, CMT-HI and plasma neurofilament light chain. RESULTS: All patient groups had elevated muscle fat fraction at thigh and calf levels, with highest thigh FF and atrophy in CMT2A. There was moderate correlation between calf muscle FF and clinical measures (CMTESv2 rho = 0.405; p = 0.001, ankle MRC strength rho = -0.481; p < 0.001). Significant annualised progression in calf muscle FF was seen in all patient groups (CMTX1 2.0 ± 2.0%, p < 0.001, CMT1B 1.6 ± 2.1% p = 0.004 and CMT2A 1.6 ± 2.1% p = 0.002). Greatest increase was seen in patients with 10-70% FF at baseline (calf 2.7 ± 2.3%, p < 0.0001 and thigh 1.7 ± 2.1%, p = 0.01). INTERPRETATION: Our results confirm that calf muscle FF is highly responsive over 12 months in three additional common forms of CMT which together with CMT1A account for 90% of genetically confirmed cases. Calf muscle MRI FF should be a valuable outcome measure in upcoming CMT clinical trials.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth , Humanos , Enfermedad de Charcot-Marie-Tooth/diagnóstico por imagen , Músculo Esquelético/diagnóstico por imagen , Extremidad Inferior/diagnóstico por imagen , Imagen por Resonancia Magnética , Evaluación de Resultado en la Atención de Salud
11.
Eur Radiol ; 34(3): 1726-1735, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37658891

RESUMEN

Magnetic resonance imaging (MRI) is the most sensitive technique for detecting inflammatory demyelinating lesions in multiple sclerosis (MS) and plays a crucial role in diagnosis and monitoring treatment effectiveness, and for predicting the disease course. In clinical practice, detection of MS lesions is mainly based on T2-weighted and contrast-enhanced T1-weighted sequences. Contrast-enhancing lesions (CEL) on T1-weighted sequences are related to (sub)acute inflammation, while new or enlarging T2 lesions reflect the permanent footprint from a previous acute inflammatory demyelinating event. These two types of MRI features provide redundant information, at least in regular monitoring of the disease. Due to the concern of gadolinium deposition after repetitive injections of gadolinium-based contrast agents (GBCAs), scientific organizations and regulatory agencies in Europe and North America have proposed that these contrast agents should be administered only if clinically necessary. In this article, we provide data on the mode of action of GBCAs in MS, the indications of the use of these agents in clinical practice, their value in MS for diagnostic, prognostic, and monitoring purposes, and their use in specific populations (children, pregnant women, and breast-feeders). We discuss imaging strategies that achieve the highest sensitivity for detecting CELs in compliance with the safety regulations established by different regulatory agencies. Finally, we will briefly discuss some alternatives to the use of GBCA for detecting blood-brain barrier disruption in MS lesions. CLINICAL RELEVANCE STATEMENT: Although use of GBCA at diagnostic workup of suspected MS is highly valuable for diagnostic and prognostic purposes, their use in routine monitoring is not mandatory and must be reduced, as detection of disease activity can be based on the identification of new or enlarging lesions on T2-weighted images. KEY POINTS: • Both the EMA and the FDA state that the use of GBCA in medicine should be restricted to clinical scenarios in which the additional information offered by the contrast agent is required. • The use of GBCA is generally recommended in the diagnostic workup in subjects with suspected MS and is generally not necessary for routine monitoring in clinical practice. • Alternative MRI-based approaches for detecting acute focal inflammatory MS lesions are not yet ready to be used in clinical practice.


Asunto(s)
Medios de Contraste , Esclerosis Múltiple , Embarazo , Niño , Humanos , Femenino , Esclerosis Múltiple/diagnóstico , Gadolinio , Imagen por Resonancia Magnética/métodos , Progresión de la Enfermedad , Encéfalo/patología
12.
Artículo en Inglés | MEDLINE | ID: mdl-38155012

RESUMEN

INTRODUCTION: Aligning dental arches in orthognathic treatment after undergoing LeFort I osteotomy or bilateral sagittal split osteotomy (BSSO) relies on occlusal splints, which do not provide precise control over the condylar head. AIM OF THE STUDY: To clinically and radiographically assess the accuracy of computer-assisted design and manufactured (CAD/CAM) surgical guide for condylar positioning in a BSSO. MATERIALS AND METHODS: The study recruited 8 patients with a non-syndromic dentofacial deformity who underwent a BSSO. Surgery was planned according to CAD/CAM technology. After osteotomy, a pre-operative guide was used, followed by a repositioning guide. Computed tomography scans were conducted on all patients 1 week pre-operatively, immediately, and 3 months postoperatively. RESULTS: The data are presented as median values with the 25th and 75th percentiles. Eight patients (37.50% females and 62.50% males) between the ages of 19 and 24 underwent BSSOs. The surgical procedure successfully corrected their skeletal deformities. The absolute change between immediate postoperative and pre-operative condylar angle was 0.15 (0.00-0.3). The absolute change between 3 months postoperative and pre-operative condylar angle was 0.20 (0.00-0.30). CONCLUSION: The stability of the condylar head in position is well assessed by 3-dimensional condylar positioning devices designed and manufactured by CAD/CAM technology in the mandibular BSSO.


Asunto(s)
Cóndilo Mandibular , Osteotomía Sagital de Rama Mandibular , Adulto , Femenino , Humanos , Masculino , Adulto Joven , Diseño Asistido por Computadora , Mandíbula , Cóndilo Mandibular/diagnóstico por imagen , Cóndilo Mandibular/cirugía , Osteotomía Mandibular , Osteotomía Sagital de Rama Mandibular/métodos , Tomografía Computarizada por Rayos X
13.
Neuroradiology ; 66(2): 179-186, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38110540

RESUMEN

PURPOSE: We assessed the current clinical imaging practice in the primary evaluation of neuromuscular disorders (NMD), with respect to standardized imaging, evaluation and reporting through a European and extra-European-wide survey. METHODS: An online questionnaire was emailed to all European Society of Neuroradiology (ESNR) members (n = 1662) who had expressed their interest in NMD. The questionnaire featured 40 individual items. Information was gathered on the context of the practices, available and preferred imaging modalities, applied imaging protocols and standards for interpretation, reporting and communication. RESULTS: A total of 30 unique entries from European and extra-European academic and non-academic institutions were received. Of these, 70% were neuroradiologists, 23% general radiologists and 7% musculoskeletal radiologists. Of the 30 responding institutes, 40% performed from 20 to 50 neuromuscular scans per year for suspected NMD. The principal modality used for a suspected myopathy was magnetic resonance imaging (MRI) (50%) or "mainly MRI" (47%). The primary imaging modality used for the evaluation of patients suspected of a neuropathy was MRI in 63% of all institutions and "mainly MRI" in 37%. For both muscle and nerve pathology, pelvic girdle and inferior limbs are the most scanned parts of the body (28%), followed by the thigh and leg (24%), whole body MR (24%), scapular girdle (16%), and the thigh in just 8% of institutions. Multiplanar acquisitions were performed in 50% of institutions. Convectional sequences used for muscle MRI included T2-STIR (88%), 2D T1weighted (w) (68%), T1 Dixon or equivalent (52%), T2 Dixon (40%), DWI (36%), 2D T2w (28%), T1 3D and T2 3D (20% respectively). For nerve MRI conventional sequences included T2-STIR (80%), DWI (56%), T2 3D (48%), 2D T2w (48%), T1 3D (44%), T1 Dixon or equivalent (44%), 2D T1 (36%), T2 Dixon (28%). Quantitative sequences were used regularly by 40% respondents. While only 28% of institutions utilized structured reports, a notable 88% of respondents expressed a desire for a standardized consensus structured report. Most of the respondents (93%) would be interested in a common MRI neuromuscular protocol and would like to be trained (87%) by the ESNR society with specific neuromuscular sessions in European annual meetings. CONCLUSIONS: Based on the survey findings, we can conclude that the current approach to neuromuscular imaging varies considerably among European and extra-European countries, both in terms of image acquisition and post-processing. Some of the challenges identified include the translation of research achievements (related to advanced imaging) into practical applications in a clinical setting, implementation of quantitative imaging post-processing techniques, adoption of structured reporting methods, and communication with referring physicians.


Asunto(s)
Imagen por Resonancia Magnética , Humanos , Imagen por Resonancia Magnética/métodos , Encuestas y Cuestionarios , Europa (Continente)
14.
Eur J Neurol ; 31(1): e16063, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-37772343

RESUMEN

BACKGROUND AND PURPOSE: Mutations in the alpha-B-crystallin (CRYAB) gene have initially been associated with myofibrillar myopathy, dilated cardiomyopathy and cataracts. For the first time, peripheral neuropathy is reported here as a novel phenotype associated with CRYAB. METHODS: Whole-exome sequencing was performed in two unrelated families with genetically unsolved axonal Charcot-Marie-Tooth disease (CMT2), assessing clinical, neurophysiological and radiological features. RESULTS: The pathogenic CRYAB variant c.358A>G;p.Arg120Gly was segregated in all affected patients from two unrelated families. The disease presented as late onset CMT2 (onset over 40 years) with distal sensory and motor impairment and congenital cataracts. Muscle involvement was probably associated in cases showing mild axial and diaphragmatic weakness. In all cases, nerve conduction studies demonstrated the presence of an axonal sensorimotor neuropathy along with chronic neurogenic changes on needle examination. DISCUSSION: In cases with late onset autosomal dominant CMT2 and congenital cataracts, it is recommended that CRYAB is considered for genetic testing. The identification of CRYAB mutations causing CMT2 further supports a continuous spectrum of expressivity, from myopathic to neuropathic and mixed forms, of a growing number of genes involved in protein degradation and chaperone-assisted autophagy.


Asunto(s)
Catarata , Enfermedad de Charcot-Marie-Tooth , Cristalinas , Humanos , Enfermedad de Charcot-Marie-Tooth/complicaciones , Enfermedad de Charcot-Marie-Tooth/genética , Enfermedad de Charcot-Marie-Tooth/diagnóstico , Mutación/genética , Pruebas Genéticas , Fenotipo , Cristalinas/genética , Catarata/genética , Linaje
15.
J Neurol Sci ; 452: 120743, 2023 09 15.
Artículo en Inglés | MEDLINE | ID: mdl-37531792

RESUMEN

BACKGROUND: Intracerebral haemorrhage (ICH) is a severe clinical consequence of cerebral small vessel disease (SVD), but associations between renal impairment and SVD in patients with ICH have not been fully characterised. METHODS: Using data from the CROMIS-2 ICH observational study, we compared SVD neuroimaging markers and total burden (score 0-3) identified using CT brain imaging in patients with and without renal impairment (estimated glomerular filtration rate, eGFR<60). We assessed functional outcome at 6-month follow-up using the modified Rankin scale. RESULTS: 1027 participants were included (mean age 72.8, 57.1% male); 274 with and 753 without renal impairment. 18.7% of the eGFR<60 group had moderate-to-severe SVD burden (score 2-3), compared with 14.0% of those with eGFR>60 (p = 0.039). SVD burden was associated with renal impairment after adjusting for hypertension (OR 1.36, 95% CI 1.04-1.77, p = 0.023), but not after adjusting for age. Cerebral atrophy was more prevalent in patients with eGFR<60 (81.2% vs. 72.0%, p = 0.002), as were WMH (45.6% vs. 36.6%, p = 0.026). Neither was associated with renal function after adjusting for age and vascular risk factors. Renal impairment was associated with functional outcome (OR 0.65, 95% CI 0.47-0.89, p = 0.007), but not after adjusting for age, pre-morbid function and comorbidities (OR 0.95, 95% CI 0.65-1.38, p = 0.774). CONCLUSION: In acute ICH, renal impairment is associated with a higher cerebral SVD burden independent of hypertension, but not age. Reduced eGFR is associated with worse functional outcome, but not independent of age and comorbidities. Since CT has limited sensitivity to detect SVD severity and distribution, further studies including MRI are needed.


Asunto(s)
Enfermedades de los Pequeños Vasos Cerebrales , Hipertensión , Humanos , Masculino , Femenino , Estudios Prospectivos , Hemorragia Cerebral/complicaciones , Hemorragia Cerebral/diagnóstico por imagen , Hemorragia Cerebral/epidemiología , Enfermedades de los Pequeños Vasos Cerebrales/complicaciones , Enfermedades de los Pequeños Vasos Cerebrales/diagnóstico por imagen , Imagen por Resonancia Magnética , Hipertensión/complicaciones , Riñón/diagnóstico por imagen , Riñón/fisiología
16.
BMC Oral Health ; 23(1): 583, 2023 08 21.
Artículo en Inglés | MEDLINE | ID: mdl-37605187

RESUMEN

BACKGROUND: Retainer is a necessary procedure when orthodontic treatment complete to avoid relapse due to periodontal fiber elasticity and to allow for alveolar bone regeneration. Compare the influence of vertical force on the failure of three fixed retainers: CAD/CAM polyether ether ketone (PEEK), CAD/CAM fiber glass reinforced composites (FRCs), and lingual retainer wire "Bond-A-Braid™". MATERIALS AND METHODS: One hundred and eight maxillary first premolars teeth were randomly allocated to three groups: Group A (CAD/CAM PEEK), Group B (CAD/CAM FRC), and Group C (lingual retainer wire " Bond-A-Braid™"). These retainers were bonded using Assure Plus Bonding Resin and GO TO Paste. For each specimen, a loading cycling and thermocycling machine was used. The failure debonding forces were measured on the interproximal segments using a universal testing machine with a cross-head speed of 1 mm/min. The adhesive remnant index (ARI) was calculated after identifying types of failure with a stereomicroscope at (X 20) magnification. RESULTS: Group B and group C showed the highest failure bonding forces, with a mean of 209.67 ± 16.15 and 86.81 ± 4.59 N, respectively. However, Group A had a statistically significant lower bond failure force, with a mean value of 45.73 ± 4.48 N. At baseline, there was a statistically significant difference in connector retainer displacement between the three studied groups (p < .001). The ARI score was not statistically significant (p < .001) between the three study groups; for groups A and B, the ARI was predominantly score 3, and group C showed a mixed score of 2 and 3. The failure mode of retainers was investigated using an optical stereomicroscope. In group B, there was a cohesive breakdown in the retainer, and groups A and C exhibited failures primarily in the adhesive at the retainer interface. CONCLUSION: All groups differed significantly, with group A having the lowest debonding force and group B having the highest. Furthermore, there was not a substantial variation in ARI, but there was a significant difference in connector retainer displacement and the types of failure amongst the three groups.


Asunto(s)
Benzofenonas , Proyectos de Investigación , Humanos , Cetonas , Éteres
17.
BMC Oral Health ; 23(1): 440, 2023 07 01.
Artículo en Inglés | MEDLINE | ID: mdl-37393280

RESUMEN

BACKGROUND: Development of white spot lesions (WSLs) is common among orthodontic patients. Several measures have been introduced to prevent and remineralize the lesions. Casein phosphopeptide-amorphous calcium phosphate (CPP-ACP) is used for both prevention and remineralization. The effect of its application before bonding is controversial. This systematic review was conducted to investigate the most up to date available literature regarding the effect of CPP-ACP enamel pre-treatment on shear bond strength (SBS) of metallic orthodontic brackets. METHODS: A search was conducted in electronic databases (MEDLINE (via PubMed), Scopus, Cochrane Library, Web of Science and Google scholar (grey literature)) up to March 29th, 2023. The inclusion criteria included in vitro studies comparing the SBS of metal orthodontic brackets following pre-treatment of enamel using CPP-ACP versus control. The exclusion criteria included study types other than in vitro studies, studies conducted on non-human enamel, or studies using CPP-ACP in combination with another intervention. The included studies were analysed by two reviewers, independently. The risk of bias assessment was done using a modified risk of bias tool. A Meta-analysis was performed. I2 values and Q-test were used for assessment of heterogeneity. Results were displayed in forest plots with a random-effects model. Standardized mean difference, standard error (SE) and 95% confidence intervals were calculated for all studies. RESULTS: The search resulted in 76 articles. After duplicate removal and assessment for eligibility, 15 studies were included in the review. High statistical heterogeneity was found among the included studies using I2 values and Q-Test (I2 = 95.147%; Q = 288.456; df = 14; P < 0.001). The overall effect of CPP-ACP pre-treatment on the SBS of metal orthodontic brackets was not significant (Mean difference = 1.163 MPa, SE = 0.757, 95% CI = -0.321, 2.648, p value = 0.125). The use of CPP-ACP for prevention of WSLs did not significantly affect the SBS of brackets (Standardized mean difference = 1.009, SE = 0.884, 95% CI = -0.723, 2.740, p value = 0.254). No significant change was found when CPP-ACP was used for remineralization of WSLs (Standardized mean difference = 1.501, SE = 1.087, 95% CI = -0.630, 3.632, p value = 0.167). CONCLUSIONS: Within the limitations of the study, the evidence suggests that the use of CPP-ACP for either prevention or remineralization of WSLs before bonding does not affect the SBS of metal orthodontic brackets.


Asunto(s)
Caseínas , Proyectos de Investigación , Humanos , Caseínas/uso terapéutico , Bases de Datos Factuales , Esmalte Dental
18.
Eur Radiol ; 33(9): 6081-6093, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37410110

RESUMEN

OBJECTIVES: Lateralisation of some language pathways has been reported in the literature using diffusion tractography, which is more feasible than functional magnetic resonance imaging (fMRI) in challenging patients. Our retrospective study investigates whether a correlation exists between threshold-independent fMRI language lateralisation and structural lateralisation using tractography in healthy controls and brain tumour patients. METHODS: Fifteen healthy subjects and 61 patients underwent language fMRI and diffusion-weighted MRI. A regional fMRI laterality index (LI) was calculated. Tracts dissected were the arcuate fasciculus (long direct and short indirect tracts), uncinate fasciculus, inferior longitudinal fasciculus, inferior fronto-occipital fasciculus and frontal aslant tract. An asymmetry index (AI) for each tract was calculated using tract volume analysed with single tensor (ST) and spherical deconvolution (SD) models, as well as hindrance modulated orientational anisotropy (HMOA) for SD tracts. Linear regression assessed the correlation between LI and AI. RESULTS: In all subjects, there was no significant correlation between LI and AI for any of the dissected tracts. Significant correlations were only found when handedness for controls and tumour volume for patients were included as covariates. In handedness subgroups, the average AI of some tracts showed the same laterality as LI, and some the opposite. Discordant results were observed for ST- and SD-based AIs. CONCLUSIONS: Our results do not support using tractography in the assessment of language lateralisation. The discordant results between ST and SD indicate that either the structural lateralisation of dissected tracts is less robust than functional lateralisation, or tractography is not sensitive methodology. Other diffusion analysis approaches should be developed. CLINICAL RELEVANCE STATEMENT: Although diffusion tractography may be more feasible than fMRI in challenging tumour patients and where sedation or anaesthesia is required, our results do not currently recommend replacing fMRI with tractography using volume or HMOA in the assessment of language lateralisation. KEY POINTS: • No correlation found between fMRI and tractography in language lateralisation. • Discordance between asymmetry indices of different tractography models and metrics. • Tractography not currently recommended in language lateralisation assessment.


Asunto(s)
Imagen por Resonancia Magnética , Sustancia Blanca , Humanos , Estudios Retrospectivos , Imagen por Resonancia Magnética/métodos , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/patología , Imagen de Difusión por Resonancia Magnética , Lenguaje , Vías Nerviosas
19.
Muscle Nerve ; 68(4): 439-450, 2023 10.
Artículo en Inglés | MEDLINE | ID: mdl-37515374

RESUMEN

INTRODUCTION/AIMS: The periodic paralyses are muscle channelopathies: hypokalemic periodic paralysis (CACNA1S and SCN4A variants), hyperkalemic periodic paralysis (SCN4A variants), and Andersen-Tawil syndrome (KCNJ2). Both episodic weakness and disabling fixed weakness can occur. Little literature exists on magnetic resonance imaging (MRI) in muscle channelopathies. We undertake muscle MRI across all subsets of periodic paralysis and correlate with clinical features. METHODS: A total of 45 participants and eight healthy controls were enrolled and underwent T1-weighted and short-tau-inversion-recovery (STIR) MRI imaging of leg muscles. Muscles were scored using the modified Mercuri Scale. RESULTS: A total of 17 patients had CACNA1S variants, 16 SCN4A, and 12 KCNJ2. Thirty-one (69%) had weakness, and 9 (20%) required a gait-aid/wheelchair. A total of 78% of patients had intramuscular fat accumulation on MRI. Patients with SCN4A variants were most severely affected. In SCN4A, the anterior thigh and posterior calf were more affected, in contrast to the posterior thigh and posterior calf in KCNJ2. We identified a pattern of peri-tendinous STIR hyperintensity in nine patients. There were moderate correlations between Mercuri, STIR scores, and age. Intramuscular fat accumulation was seen in seven patients with no fixed weakness. DISCUSSION: We demonstrate a significant burden of disease in patients with periodic paralyses. MRI intramuscular fat accumulation may be helpful in detecting early muscle involvement, particularly in those without fixed weakness. Longitudinal studies are needed to assess the role of muscle MRI in quantifying disease progression over time and as a potential biomarker in clinical trials.


Asunto(s)
Canalopatías , Parálisis Periódica Hipopotasémica , Distrofias Musculares , Parálisis Periódicas Familiares , Humanos , Parálisis Periódicas Familiares/diagnóstico por imagen , Parálisis Periódica Hipopotasémica/diagnóstico por imagen , Músculo Esquelético/diagnóstico por imagen , Músculo Esquelético/patología , Distrofias Musculares/patología , Imagen por Resonancia Magnética , Parálisis , Canal de Sodio Activado por Voltaje NAV1.4/genética , Mutación
20.
Netw Neurosci ; 7(2): 478-495, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37397890

RESUMEN

Beyond the established effects of subthalamic nucleus deep brain stimulation (STN-DBS) in reducing motor symptoms in Parkinson's disease, recent evidence has highlighted the effect on non-motor symptoms. However, the impact of STN-DBS on disseminated networks remains unclear. This study aimed to perform a quantitative evaluation of network-specific modulation induced by STN-DBS using Leading Eigenvector Dynamics Analysis (LEiDA). We calculated the occupancy of resting-state networks (RSNs) in functional MRI data from 10 patients with Parkinson's disease implanted with STN-DBS and statistically compared between ON and OFF conditions. STN-DBS was found to specifically modulate the occupancy of networks overlapping with limbic RSNs. STN-DBS significantly increased the occupancy of an orbitofrontal limbic subsystem with respect to both DBS OFF (p = 0.0057) and 49 age-matched healthy controls (p = 0.0033). Occupancy of a diffuse limbic RSN was increased with STN-DBS OFF when compared with healthy controls (p = 0.021), but not when STN-DBS was ON, which indicates rebalancing of this network. These results highlight the modulatory effect of STN-DBS on components of the limbic system, particularly within the orbitofrontal cortex, a structure associated with reward processing. These results reinforce the value of quantitative biomarkers of RSN activity in evaluating the disseminated impact of brain stimulation techniques and the personalization of therapeutic strategies.

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