Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in SMG8 gene.

Alzahrani-Kuwahara syndrome (ALKUS) is a neurodevelopmental disorder that includes microcephaly, facial dysmorphism, and variable congenital and eye malformations. We present the first case of ALKUS described in the European population caused by two variants in compound heterozygosity of the gene SMG8. We present a patient with two variants in compound heterozygosity in the SMG8 gene identified by in trio whole exome sequencing based in next generation sequencing (xGEN® Exome Research Panel, Nextseq550 platform). International case reporting (CARE) criteria were followed. Patient written consent was obtained through legal responsible persons. We describe a 27-year-old male, the second child of a healthy and non-consanguineous couple, whose genetic analysis showed two variants in compound heterozygosity, c.1159C > T (p.Arg387*) and c.2407del (p.Arg803Glyfs*10), in the SMG8 gene, both classified as likely pathogenic. As described by Fatema Alzahrani et al. in a series of eight patients, our patient had global developmental delay with impaired intellectual development, facial dysmorphism, and limb disproportion. Additionally, our patient had lower limb spastic paraparesis, marked osteotendinous hyperreflexia with extensor plantar response bilaterally and paretic gait. Our patient resembles the phenotype described by Fatema Alzahrani et al., however, he is the first patient with two SMG8 deleterious variants in compound heterozygosity, and the first to exhibit pyramidal signs and gait disorder as part of the phenotype.

Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study.

PURPOSE: There is limited data concerning neuroimaging findings and longitudinal evaluation of familial cerebral cavernous malformations (FCCM) in children. Our aim was to study the natural history of pediatric FCCM, with an emphasis on symptomatic hemorrhagic events and associated clinical and imaging risk factors. METHODS: We retrospectively reviewed all children diagnosed with FCCM in four tertiary pediatric hospitals between January 2010 and March 2022. Subjects with first available brain MRI and [Formula: see text] 3 months of clinical follow-up were included. Neuroimaging studies were reviewed, and clinical data collected. Annual symptomatic hemorrhage risk rates and cumulative risks were calculated using survival analysis and predictors of symptomatic hemorrhagic identified using regression analysis. RESULTS: Forty-one children (53.7% males) were included, of whom 15 (36.3%) presenting with symptomatic hemorrhage. Seven symptomatic hemorrhages occurred during 140.5 person-years of follow-up, yielding a 5-year annual hemorrhage rate of 5.0% per person-year. The 1-, 2-, and 5-year cumulative risks of symptomatic hemorrhage were 7.3%, 14.6%, and 17.1%, respectively. The latter was higher in children with prior symptomatic hemorrhage (33.3%), CCM2 genotype (33.3%), and positive family history (20.7%). Number of brainstem (adjusted hazard ratio [HR] = 1.37, P = 0.005) and posterior fossa (adjusted HR = 1.64, P = 0.004) CCM at first brain MRI were significant independent predictors of prospective symptomatic hemorrhage. CONCLUSION: The 5-year annual and cumulative symptomatic hemorrhagic risk in our pediatric FCCM cohort equals the overall risk described in children and adults with all types of CCM. Imaging features at first brain MRI may help to predict potential symptomatic hemorrhage at 5-year follow-up.

Encephalitis with Autoantibodies against the Glutamate Kainate Receptors GluK2.

OBJECTIVE: The objective of this study was to report the identification of antibodies against the glutamate kainate receptor subunit 2 (GluK2-abs) in patients with autoimmune encephalitis, and describe the clinical-immunological features and antibody effects. METHODS: Two sera from 8 patients with similar rat brain immunostaining were used to precipitate the antigen from neuronal cultures. A cell-based assay (CBA) with GluK2-expressing HEK293 cells was used to assess 596 patients with different neurological disorders, and 23 healthy controls. GluK2-ab effects were determined by confocal microscopy in cultured neurons and electrophysiology in GluK2-expressing HEK293 cells. RESULTS: Patients' antibodies precipitated GluK2. GluK2 antibody-specificity was confirmed by CBA, immunoprecipitation, GluK2-immunoabsorption, and GluK2 knockout brain immunohistochemistry. In 2 of 8 samples, antibodies reacted with additional GluK2 epitopes present in GluK1 or GluK3; in both, the reactivity was abrogated after GluK2 immuno-absorption. Six of 8 patients developed acute encephalitis and clinical or magnetic resonance imaging (MRI) features of predominant cerebellar involvement (4 presenting as cerebellitis, which in 2 patients caused obstructive hydrocephalus), and 2 patients had other syndromes (1 with cerebellar symptoms). One of the samples showed mild reactivity with non-kainate receptors (alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptors [AMPAR] and N-methyl-D-aspartate receptors [NMDAR]) leading to identify 6 additional cases with GluK2-abs among patients with anti-AMPAR (5/71) or anti-NMDAR encephalitis (1/73). GluK2-abs internalized GluK2 in HEK293 cells and neurons; these antibody-effects were reversible in neurons. A significant reduction of GluK2-mediated currents was observed in cells treated with patients' GluK2 serum following the time frame of antibody-mediated GluK2 internalization. INTERPRETATION: GluK2-abs associate with an encephalitis with prominent clinicoradiological cerebellar involvement. The antibody effects are predominantly mediated by internalization of GluK2. ANN NEUROL 2021;90:107-123.

Congenital myopathies in adults: A diagnosis not to overlook.

BACKGROUND: Congenital myopathies (CM) were traditionally classified according to the muscle histopathological features, but in recent years, molecular diagnosis has become increasingly important. CM may present a wide phenotype variability, and while adult-onset CM have been increasingly recognized, substantial diagnostic delays are still reported. OBJECTIVES: To describe a cohort of adult CM patients, including clinical, genetic, and histopathological features, and further characterize the subgroup of adult-diagnosed patients. MATERIALS AND METHODS: We performed a retrospective observational cohort study to characterize the CM patients evaluated in our adult Neuromuscular outpatient clinic, including the subgroup of adult-diagnosed patients. RESULTS: We identified 19 CM patients with compatible molecular and/or histological diagnoses, of which 14 were diagnosed in adulthood. Eleven adult-diagnosed patients had symptoms since childhood and 9 had a family history of myopathy. The median age of symptoms' onset was 4 years old and the median age at diagnosis was 37 years old. The most common causative gene was RYR1, followed by TTN and MYH7. Three patients had non-specific features on muscle biopsy, all diagnosed during adulthood. CONCLUSIONS: In our cohort, the majority of CM were diagnosed in adulthood, despite most having pediatric-onset symptoms and positive family history. The diagnostic delay may be associated with mild presentation, slow course, atypical muscle histology, and lack of awareness of adult-onset CM. Studies with larger populations are needed.

Tocilizumab for severe refractory primary central nervous system vasculitis: A center experience.

BACKGROUND: Primary Central Nervous System Vasculitis (PCNSV) is responsible for 3%-5% of strokes before age 50. It presents with clinical, radiological, and pathological variability. Optimal management is unknown given the absence of randomized clinical trials. AIMS OF THE STUDY: Explore whether tocilizumab, an anti-interleukin-6 monoclonal antibody, is an effective treatment for refractory PCNSV. METHODS: Patients with PCNSV treated with tocilizumab in a single tertiary center were reviewed. RESULTS: Three patients were identified. In two of them, MRI-revealed ischemic lesions. The other presented with a subcortical hemispheric pseudotumoral lesion. Brain biopsy was inconclusive in two patients. Due to a significant number of relapses and clinical deterioration despite other immunosuppressive drugs, tocilizumab was initiated and induced a long remission period up to 44 months. Observed side effects were a fungic infection, neutropenia and thrombocytopenia (both transitory), and a pulmonary embolism in one of the cases. CONCLUSIONS: Tocilizumab might be a therapeutic option for PCNSV (Class IV evidence), given its efficacy and safety. We propose a novel pathway for diagnosis and therapeutics of PCNSV with the purpose of improving the diagnosis, monitoring, and prognosis of this heterogeneous disorder, setting the framework for future use of tocilizumab in this condition.

Spinal involvement in pediatric familial cavernous malformation syndrome.

PURPOSE: The aim of the study was to assess the prevalence and characteristics of spinal cord cavernous malformations (SCCM) and intraosseous spinal vascular malformations (ISVM) in a pediatric familial cerebral cavernous malformation (FCCM) cohort and evaluate clinico-radiological differences between children with (SCCM +) and without (SCCM-) SCCM. METHODS: All patients with a pediatric diagnosis of FCCM evaluated at three tertiary pediatric hospitals between January 2010 and August 2021 with [Formula: see text] 1 whole spine MR available were included. Brain and spine MR studies were retrospectively evaluated, and clinical and genetic data collected. Comparisons between SCCM + and SCCM- groups were performed using student-t/Mann-Whitney or Fisher exact tests, as appropriate. RESULTS: Thirty-one children (55% boys) were included. Baseline spine MR was performed (mean age = 9.7 years) following clinical manifestations in one subject (3%) and as a screening strategy in the remainder. Six SCCM were detected in five patients (16%), in the cervico-medullary junction (n = 1), cervical (n = 3), and high thoracic (n = 2) regions, with one appearing during follow-up. A tendency towards an older age at first spine MR (P = 0.14) and [Formula: see text] 1 posterior fossa lesion (P = 0.13) was observed in SCCM + patients, lacking statistical significance. No subject demonstrated ISVM. CONCLUSION: Although rarely symptomatic, SCCM can be detected in up to 16% of pediatric FCCM patients using diverse spine MR protocols and may appear de novo. ISVM were instead absent in our cohort. Given the relative commonality of asymptomatic SCCM, serial screening spine MR should be considered in FCCM starting in childhood.

Response to the letter to the editor: "Score risk scale as a prognostic factor after sudden sensorineural hearing loss".

We appreciate the opportunity to comment the observations on our paper entitled "Score risk scale as a prognostic factor after sudden sensorineural hearing loss", by Capuano et al. This letter highlights several important points, including the role of hyperbaric oxygen therapy and the possible association between patent foramen ovale and sudden sensorineural hearing loss (SSHL). Further research is needed to strengthen the association between cardiovascular risk and SSHL. We thank the authors for their insights into our paper and for adding their experience and observations on the potential role of cardiovascular risk in the etiology of SSHL.

SCORE risk scale as a prognostic factor after sudden sensorineural hearing loss.

INTRODUCTION: Sudden sensorineural hearing loss (SSHL) is an otologic urgency whose treatment is still controversial. Its etiology remains largely unknown in most cases and predicting its prognosis is still a challenge. Cardiovascular risk factors (CVRF) have been implicated in the etiopathogenesis of this entity. OBJECTIVES: Application of the SCORE (Systematic Coronary Risk Evaluation) risk scale in patients with SSHL and evaluation of its potential prognostic value in recovery in patients with CVRF. MATERIALS AND METHODS: Prospective analysis of patients with SSHL admitted for protocol treatment including intravenous corticosteroid therapy associated to weekly intratympanic injection in the event of therapeutic failure or severe hearing loss at admission. Demographic, audiometric, clinical and imaging data were assessed. The SCORE risk scale was applied and the audiometric recovery was compared among different risk groups. RESULTS: Our overall complete and partial recovery rates were 35.9% and 26%, respectively. More than a half of our patients had at least one CVRF. Of these, overweight/obesity, hyperlipidemia and hypertension were the most common. In our sample, patients with CVRF and higher SCORE risk presented higher PTA at admission and also worse hearing outcome, although these results were not statically significant. CONCLUSION: This preliminary study could not confirm the validity for SCORE scale for cardiovascular risk assessment in predicting audiometric recovery in patients with SSHL with multiple comorbidities. Further research with larger samples are needed to elucidate the etiology of SSHL and the exact role of cardiovascular risk factors in the pathophysiology of SSHL. LEVEL OF EVIDENCE: 4.

Brody disease: when myotonia is not myotonia.

A 56-year-old man presented with painless impairment of muscle relaxation on vigorous contraction (eg, eyelid closure, hand grip, running). There were no episodes of paralysis, symptom progression, weakness or extramuscular symptoms. Five of his fifteen siblings had similar complaints. His serum creatine kinase was normal. Electromyography showed electrical silence on muscle relaxation, without myotonic discharges. DMPK, ClCN1 and SCN4A genetic testing was normal, but he had a homozygous pathogenic variant of ATP2A1 (c.1315G>A; pGlu439Lys). Brody disease is a rare autosomal recessive myopathy due to ATP2A1 mutations that reduce sarcoplasmic reticulum calcium-ATPase1 activity, hence delaying muscle relaxation.

Septal and turbinate surgery: is overnight essential?

INTRODUCTION: The performance of septoplasty and turbinate surgery in an outpatient basis is an increasingly established practice, although is still a controversial topic. METHODS: Retrospective analysis of 227 patients who underwent septoplasty ± inferior and/or middle turbinoplasty. Demographic, clinical, surgical, and anesthetic data were collected. Our primary outcomes were rates of perioperative complications, prolongation of hospital stay (PHS), unexpected hospital revisits (UHR), or readmissions within 30 days of surgery. RESULTS: The UHR rate was 4.8 and 6.6% in the first 48 h and 30 postoperative days, respectively. The main reasons were nasal obstruction, self-limited epistaxis, and gastrointestinal intolerance to the prescribed antibiotic. Four patients required PHS due to nausea or vomiting and asthenia. There were no intraoperative complications, readmissions to the operative room, or hospital readmissions after discharge. The addiction of turbinate procedures was not associated with higher risk of complications. Patients with PHS were younger than those discharged as scheduled. There was no association between complications and comorbidities, gender, ASA classification, revision surgery, surgeon's grading, technique of inferior turbinoplasty, type of nasal packing, duration of anesthesia, and operative time. CONCLUSION: The UHR rate of septoplasty performed at our unit is above that recommended for ambulatory procedures, but is within the range previously published and no major complications were seen. Septoplasty and turbinate surgery, including middle turbinate surgery, have a great potential to be undertaken as a day-case procedure, being patient selection the cornerstone of safe and efficient perioperative care.

Couples' discontinuation of fertility treatments: a longitudinal study on demographic, biomedical, and psychosocial risk factors.

PURPOSE: This study aims to explore the role of infertility-psychosocial variables on treatment discontinuation after controlling for demographic and biomedical variables in couples seeking reimbursed fertility treatment. METHODS: A prospective study was conducted in 139 couples seeking fertility treatment. Between February 2010 and March 2011, participants completed measures of anxiety (STAI-State), depression (BDI-II), infertility-stress (FPI), and infertility coping strategies (COMPI-CSS). Medical data related to diagnosis, treatment, and discontinuation were collected in December 2013. A multiple logistic regression was performed to identify the predictors of discontinuation. RESULTS: The discontinuation rate was 29.5%. Female education level, engagement in ART procedures, and female causation decreased the likelihood of treatment discontinuation, whereas female age and depression increased the likelihood of discontinuation. Female depression was the strongest predictor in this model. The model correctly identified 75.5% of cases. CONCLUSIONS: Female age and female depression are associated with a higher likelihood of treatment discontinuation in couples seeking treatment. Reproductive health professionals should therefore inform couples about the link between the fertility treatment discontinuation and both female age and female depression. Couples in which female partners present clinically relevant depression should be referred to a mental health professional to prevent premature abandonment of fertility treatments and thus increase success rates.

THERMAL RESIDUAL STRESSES IN BILAYERED, TRILAYERED AND GRADED DENTAL CERAMICS.

Layered ceramic systems are usually hit by residual thermal stresses created during cooling from high processing temperature. The purpose of this study was to determine the thermal residual stresses at different ceramic multi-layered systems and evaluate their influence on the bending stress distribution. Finite elements method was used to evaluate the residual stresses in zirconia-porcelain and alumina-porcelain multi-layered discs and to simulate the 'piston-on-ring' test. Temperature-dependent material properties were used. Three different multi-layered designs were simulated: a conventional bilayered design; a trilayered design, with an intermediate composite layer with constant composition; and a graded design, with an intermediate layer with gradation of properties. Parameters such as the interlayer thickness and composition profiles were varied in the study. Alumina-porcelain discs present smaller residual stress than the zirconia-porcelain discs, regardless of the type of design. The homogeneous interlayer can yield a reduction of ~40% in thermal stress relative to bilayered systems. Thinner interlayers favoured the formation of lower thermal stresses. The graded discs showed the lowest thermal stresses for a gradation profile given by power law function with p=2. The bending stresses were significantly affected by the thermal stresses in the discs. The risk of failure for all-ceramic dental restorative systems can be significantly reduced by using trilayered systems (homogenous or graded interlayer) with the proper design.

Spectral-Domain Optical Coherence Tomography as a Potential Biomarker in Huntington's Disease.

BACKGROUND: Spectral-domain optical coherence tomography has been used in several neurological conditions, and peripapillary and macular measurements have been proposed as potential biomarkers in these disorders. The aim of this study was to investigate retinal and choroidal changes in Huntington's disease and to evaluate any potential correlation with the stage of the disease. METHODS: A cross-sectional observational study compared patients with Huntington's disease and controls. Patients were evaluated using the Unified Huntington's Disease Rating Scale. Spectral-domain optical coherence tomography with enhanced depth imaging was used, and peripapillary choroidal and retinal nerve fiber layer thickness and macular retinal and choroidal thickness were evaluated. RESULTS: Fifteen eyes of 8 patients and 16 eyes of 8 sex-, age-, and mean refractive error-matched healthy controls were included. Average (231.3 ± 52.8 vs 296.2 ± 57.1, P = 0.033), central (341.8 ± 70.5 vs 252.0 ± 57.9, P = 0.015), and inferior (225.3 ± 57.9 vs 313.8 ± 55.2, P = 0.007) macular choroidal thickness were significantly reduced in patients, in comparison with controls. No differences were observed in macular retina or peripapillary retinal and choroidal measurements. However, there was a negative correlation between Total Motor Score of the Unified Huntington's Disease Rating Scale and average (r(2) = 0.585, P = 0.027), superior (r(2) = 0.653, P = 0.015), nasal (r(2) = 0.642, P = 0.017), and inferior (r(2) = 0.574, P = 0.029) macular retinal thickness. CONCLUSIONS: Our results suggest that both the choroidal and retinal macula are altered in Huntington's disease and may become useful biomarkers for monitoring neurodegeneration in this disease. The involvement of the choroid may also support the recent findings of vascular involvement in Huntington's disease.

The bending stress distribution in bilayered and graded zirconia-based dental ceramics.

The purpose of this study was to evaluate the biaxial flexural stresses in classic bilayered and in graded zirconia-feldspathic porcelain composites. A finite element method and an analytical model were used to simulate the piston-on-ring test and to predict the biaxial stress distributions across the thickness of the bilayer and graded zirconia-feldspathic porcelain discs. An axisymmetric model and a flexure formula of Hsueh et al. were used in the FEM and analytical analysis, respectively. Four porcelain thicknesses were tested in the bilayered discs. In graded discs, continuous and stepwise transitions from the bottom zirconia layer to the top porcelain layer were studied. The resulting stresses across the thickness, measured along the central axis of the disc, for the bilayered and graded discs were compared. In bilayered discs, the maximum tensile stress decreased while the stress mismatch (at the interface) increased with the porcelain layer thickness. The optimized balance between both variables is achieved for a porcelain thickness ratio in the range of 0.30-0.35. In graded discs, the highest tensile stresses were registered for porcelain rich interlayers (p=0.25) whereas the zirconia rich ones (p=8) yield the lowest tensile stresses. In addition, the maximum stresses in a graded structure can be tailored by altering compositional gradients. A decrease in maximum stresses with increasing values of p (a scaling exponent in the power law function) was observed. Our findings showed a good agreement between the analytical and simulated models, particularly in the tensile region of the disc. Graded zirconia-feldspathic porcelain composites exhibited a more favourable stress distribution relative to conventional bilayered systems. This fact can significantly impact the clinical performance of zirconia-feldspathic porcelain prostheses, namely reducing the fracture incidence of zirconia and the chipping and delamination of porcelain.

Sepsis during pregnancy or the postpartum period.

Sepsis is an important cause of maternal morbidity and mortality worldwide. Early recognition and timely treatment are the key to ensuring a favourable outcome. This article reviews recent literature about definitions, pathophysiology, incidence, diagnosis, management, treatment, prevention and outcome of sepsis during pregnancy and the postpartum period.

Neuromyelitis optica spectrum disorders associated with other autoimmune diseases.

Neuromyelitis optica (NMO) is an inflammatory demyelinating autoimmune disease with severe, tremendously incapacitating, consequences in the patient's health and wellbeing. Until 2004, NMO was considered a restricted type of multiple sclerosis but in the same year an auto-antibody reacting against aquaporin-4 (NMO-IgG) was found to be related with NMO and it was considered the main etiologic agent of this disease. Its detection is very sensitive and specific allowing an early diagnosis and a better treatment and prognosis. With this tool, a spectrum of diseases including other autoimmune diseases was found to have NMO-IgG antibodies and a new classification named NMO spectrum disorders was created. In this review, we sum up the developments in this field associated with other autoimmune diseases. We approach the latest discoveries in the diagnosis like the new biomarkers that will possibly be used in the close future or the developments in the neuroimaging techniques. We reviewed the literature and synthesized case reports of NMO patients with concurrent autoimmune diseases and the information from useful larger studies. Finally, we summarize the commonly used treatments in NMO and we try to specify the best treatment for NMO with simultaneous autoimmune disease. This review updates the information about this issue and raises the awareness of rheumatologists for these severe diseases.

Progranulin peripheral levels as a screening tool for the identification of subjects with progranulin mutations in a Portuguese cohort.

BACKGROUND: Progranulin (PGRN) mutations are associated with different clinical phenotypes, including frontotemporal lobar degeneration (FTLD), corticobasal syndrome (CBS) and Alzheimer's disease (AD). As all pathogenic PGRN mutations identified so far cause disease through haploinsufficiency, determination of PGRN levels has been proposed as a reliable method to identify mutation carriers. OBJECTIVE: To evaluate the accuracy of peripheral PGRN levels in the identification of the PGRN mutation carriers detected thus far in our Portuguese cohort. METHODS: Serum PGRN levels were measured in 244 subjects (124 patients in the spectrum of FTLD, 2 asymptomatic descendants of a FTLD patient, 56 AD patients and 64 controls) by a novel commercial ELISA kit. RESULTS: Low PGRN levels were detected in 7 individuals (5 behavioral variant frontotemporal dementia, 1 CBS, and 1 still clinically unaffected) that constituted the group of the null PGRN mutation carriers previously identified in our molecular diagnostic laboratory. The pathogenic mutations found consisted of 4 insertion-deletions, causing frameshifts resulting in premature stop codons, 3 of which were novel. In addition, a normal PGRN level was found in a patient harboring a novel missense variant. For this novel ELISA kit, we established a PGRN cut-off level that identified with 100% accuracy the pathogenic mutation carriers. CONCLUSION: This study supports the use of a novel assay for the determination of PGRN levels as a screening procedure to identify patients harboring null PGRN mutations. This approach would significantly decrease the required PGRN mutation analysis workload and should be extended to other clinical phenotypes than behavioral variant frontotemporal dementia and to apparently sporadic cases.

Anti-dementia drugs: what is the evidence in advanced stages?

Dementia is a major public health concern due to its increasing prevalence, substantial caregiver burden, and high financial costs. Currently, the anti-dementia drugs aim only at a symptomatic effect. The subject of prescribing these drugs in advanced stages is a matter of considerable debate, with different countries making distinct recommendations. In this review article, we analyzed the evidence regarding cognitive and functional outcomes, adverse events, health-related costs, and caregiver burden in patients with advanced Alzheimer disease (AD) and mixed dementia. We included 35 studies. Most studies are heterogeneous, focus exclusively on AD, and show small benefits in terms of cognitive and functional scales. The overall evidence seems to suggest a benefit in introducing or maintaining anti-dementia drugs in patients with advanced dementia, but clinical meaningfulness is difficult to ascertain. The issue of costs and caregiver burden is significantly underexplored in this field but also seems to favor treatment continuation, despite a reduced overall effect. The decision of introducing or withdrawing anti-dementia drugs in advanced stages of dementia should be individualized. Future studies with homogeneous designs and outcomes are warranted.

Optic neuropathy diagnosis in the emergency room - retrospective observational study of the last 18 years.

INTRODUCTION: Optic neuropathies (ON), a broad spectrum of disorders of the optic nerve, are a frequent cause of visual loss, presenting either in isolation or associated to neurological or systemic disorders. They are often first evaluated in the Emergency Room (ER) and a rapid determination of the etiology is imperative for implementing timely and appropriate treatment. We aim to describe ER demographic data and clinical characteristics, as well as the performed imaging exams, of patients subsequently hospitalized and diagnosed with ON. Furthermore, we seek to explore the accuracy of ER discharge diagnosis and evaluate possible predictive factors that may influence it. METHODS: We retrospectively reviewed the medical records of 192 patients admitted to the ward of the Neurology Department of Centro Hospitalar Universitário São João (CHUSJ), with a discharge diagnosis of ON. Subsequently, we selected those admitted from the ER, with clinical, laboratory and imaging data, between January 2004 and December 2021. RESULTS: We included 171 patients. All participants were discharged from the ER and admitted in the ward with a main diagnostic suspicion of ON. Patients were stratified according to suspected etiology at the time of discharge: 99 inflammatory (57.9%), 38 ischemic (22.2%), 27 unspecified (15.8%) and 7 other (4.1%). By comparing with current follow-up diagnosis, 125 patients had an accurate ER diagnosis category (73.1%), 27 had an ON diagnosis of unspecified etiology that was defined only during follow-up (15.8%) and 19 had an inaccurate diagnosis category (11.1%). Diagnostic change was more common with ER ischemic diagnosis (21.1%) compared to inflammatory diagnosis (8.1%) (p = 0.034). CONCLUSIONS: Our study reveals that most patients with ON can be accurately diagnosed in the ER through clinical history neurological and ophthalmological evaluation.

Advancements in non-invasive imaging of atherosclerosis: Future perspectives.

Atherosclerosis is a chronic inflammatory disease characterized by the buildup of plaques in arterial walls, leading to cardiovascular diseases and high morbidity and mortality rates worldwide. Non-invasive imaging techniques play a crucial role in evaluating patients with suspected or established atherosclerosis. However, there is a growing body of evidence suggesting the need to visualize the underlying processes of plaque progression and rupture to enhance risk stratification. This review explores recent advancements in non-invasive assessment of atherosclerosis, focusing on computed tomography, magnetic resonance imaging, and nuclear imaging. These advancements provide valuable insights into the assessment and management of atherosclerosis, potentially leading to better risk stratification and improved patient outcomes.