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1.
Caspian J Intern Med ; 15(4): 729-734, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39359445

RESUMO

Background: Multiple sclerosis (MS) and Takayasu's arteritis (TAK) are two autoimmune diseases that affect the Central nervous system (CNS), but the relationship between them has not been established. Case Presentation: Here we report the emergence of MS during treatment. Takayasu's arteritis in a 24-year-old Iranian woman with a severe presentation. She was treated aggressively with IV methylprednisolone 1 g/day for 3 days and continued with oral prednisolone, also IV cyclophosphamide monthly. After 2 months, loss of vision led to a diagnosis of Optic neuritis (ON) caused by concomitant MS. Conclusion: Differentiating CNS vasculitis associated with Takayasu's arthritis from coexisting MS affecting the CNS is challenging and what is important is to avoid giving a TNF inhibitor.

2.
Cureus ; 16(9): e68931, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39381463

RESUMO

We describe the case of a 74-year-old male with ankylosing spondylitis (AS) who presented to the Emergency Department for evaluation of acutely worsened left-sided weakness following a fall from standing. Computed tomography (CT) and magnetic resonance imaging (MRI) of his cervical spine revealed a chalk-stick fracture of C5-C7, which required surgical intervention. Chalk-stick fractures are rare, typically occurring in patients with AS, and often occurring from low-energy mechanisms. In the acute setting, providers should maintain a low threshold for obtaining CT or MRI imaging to evaluate spinal injury in patients with AS.

3.
Pan Afr Med J ; 48: 65, 2024.
Artigo em Francês | MEDLINE | ID: mdl-39355715

RESUMO

Coronavirus disease 2019 (COVID-19) affects the respiratory system. Studying the clinical characteristics of this infection has revealed its tropism to the nervous system, which is responsible for neurological and sensory damage, in particular, dizziness and hearing loss. To determine the frequency and characteristics of the neurological impairment represented by dizziness and hearing loss in healthcare professionals (HCP) with COVID-19. Cross-sectional descriptive study conducted among HCP at Charles Nicolle Hospital (CNH) in Tunis affected by COVID-19 during the period from September 2020 to December 2020. Data collection was carried out by regular telephone follow-up of COVID-19 symptoms in these HCPs during the period of sanitary isolation. A total of 482 HCPs with COVID-19 were collected. The average age of the population was 41 ± 10 years, of which 111 were men (23%) and 371 were women (77%). The main neurological manifestations were: headache (71.2%), anosmia (60%), dizziness (21.8%), and hearing loss (1.5%). Patients with vertigo were significantly older (P=0.035), female (P=0.003), obese (P=0.014), suffering from more comorbidities (P=0.004), and having greater professional seniority (P=0.009). Dizziness was significantly associated with fever (P=0.001), abdominal pain (P=0.001), and desaturation (P=0.039). Neurological symptoms including dizziness and hearing loss may be the only sign with which a case of COVID-19 could be recognized. Raising awareness of such a presentation of COVID-19 patients is crucial during this pandemic period to prevent infectious spread, especially in hospitals.


Assuntos
COVID-19 , Tontura , Pessoal de Saúde , Perda Auditiva , Humanos , COVID-19/epidemiologia , COVID-19/complicações , Masculino , Estudos Transversais , Feminino , Adulto , Pessoal de Saúde/estatística & dados numéricos , Pessoa de Meia-Idade , Perda Auditiva/epidemiologia , Perda Auditiva/etiologia , Tontura/epidemiologia , Tontura/etiologia , Tunísia/epidemiologia , Cefaleia/epidemiologia , Cefaleia/etiologia , Vertigem/epidemiologia , Vertigem/etiologia
4.
Brain Behav Immun ; 2024 Oct 06.
Artigo em Inglês | MEDLINE | ID: mdl-39378970

RESUMO

The ketogenic diet (KD) has been shown to be effective in treating various brain pathologies. In this study, we conducted detailed transcriptomic and metabolomic profiling of rat brains after KD and ischemic stroke in order to investigate the effects of KD and its underlying mechanisms. We evaluated the effect of a two-month KD on gene expression in intact brain tissue and after middle cerebral artery occlusion (MCAO). We analyzed the effects of KD on gut microbiome composition and blood metabolic profile as well as investigated the correlation between severity of neurological deficits and KD-induced changes. We found transcriptional reprogramming in the brain after stroke and KD treatment. The KD altered the expression of genes involved in the regulation of glucose and fatty acid metabolism, mitochondrial function, the immune response, Wnt-associated signaling, stem cell development, and neurotransmission, both in intact rats and after MCAO. The KD led to a significant change in the composition of gut microbiome and the levels of amino acids, acylcarnitines, polyunsaturated fatty acids, and oxylipins in the blood. However, the KD slightly worsened the neurological functions after MCAO, so that the therapeutic effect of the diet remained unproven.

5.
Int Med Case Rep J ; 17: 819-822, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39364335

RESUMO

Wilson's disease (WD) is a genetic disorder of copper metabolism that is inherited as an autosomal recessive (AR) due to mutations in the ATP7B gene, which is involved in intracellular copper transport. Approximately 40% to 50% of the patients present with neurological symptoms as their first symptom. The most common neurological symptoms are dysarthria, gait abnormalities, ataxia, dystonia, tremor, parkinsonism, and drooling. This case report aims to present a diagnostically challenging case of WD presenting with neurological symptoms. The 38-year-old male patient was admitted with complaints of imbalance, gait disturbance, weakness in the legs, speech impairment, tremors in the hands, syncope, and drooling. The MRI primarily revealed FLAIR, T1, and T hyperintensities in the bilateral globus pallidus of the basal ganglias. At first, the patient was evaluated according to the Leipzig scoring and received one point from the serum ceruloplasmin level and two points from the neurological symptoms and was evaluated as "possible WD" with a total of three points. 24-hour urine copper was collected during and after the D-Penicillamine challenge. After the test, there was an increase of more than 5 times the upper limit. The Leipzig score was recalculated, and a diagnosis of WD was made with a score of five. Even cases without important diagnostic findings such as Kayser-Fleischer ring or high 24-hour urine copper should be evaluated according to the Leipzig score. It is vital to distinguish WD in patients with young-onset movement disorder and neurological symptoms.

6.
Int Neurourol J ; 28(3): 232-238, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39363414

RESUMO

PURPOSE: Neurogenic detrusor overactivity (NDOA) is characterized by involuntary detrusor muscle contractions during bladder filling in patients with neurological disorders. Anticholinergic therapy is the primary treatment; however, the reasons for treatment resistance in NDOA are not well understood. This study aimed to identify predictors of treatment failure by comparing urodynamic and frequency-volume chart data between patients with NDOA who respond and patients who do not respond to anticholinergic therapy. METHODS: We reviewed the records of 362 patients presenting with lower urinary tract symptoms and selected 85 who had NDOA and were on anticholinergic therapy. Ultimately, 67 patients were analyzed. We categorized these individuals into responders (group R) and nonresponders (group NR) based on clinical and urodynamic improvements. Three-day frequencyvolume charts and urodynamic study results were retrospectively reviewed. RESULTS: Of the 85 initial patients, 12 refused medication, and 6 were lost to follow-up. Pre- to posttreatment changes differed significantly between groups in the number of urgency urinary incontinence (UUI) episodes per 24 hours (P=0.001), maximum cystometric capacity (mL, P=0.003), NDOA frequency (P=0.004), and bladder compliance (mL/cm H2O, P=0.003). Multivariate analysis revealed that NDOA frequency (P=0.014) and UUI episodes per 24 hours (P=0.002) were significant factors associated with treatment failure. CONCLUSION: NDOA varies according to underlying neurological conditions. The frequencies of UUI episodes and NDOA in urodynamic studies can predict resistance to initial anticholinergic treatment.

7.
JNMA J Nepal Med Assoc ; 62(276): 521-525, 2024 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-39369397

RESUMO

INTRODUCTION: Posterior instrumented stabilization is a commonly done surgery in spinal tuberculosis. This study aims to evaluate the clinical, radiological, and neurological outcomes of posterior instrumented stabilization and transpedicular decompression in thoracic and lumbar spinal tuberculosis. METHODS: A descriptive cross-sectional study was conducted for one and a half years with at least six months of follow-up in a tertiary care center. The study was approved by the Institutional Review Committee (Reference number: 119 (6-11-5) 2/075-076). Total sampling was done and the study included patients over 18 years of age with spinal tuberculosis of the thoracic or lumbar regions. These patients underwent posterior instrumented stabilization and transpedicular decompression at the tertiary care center. The age, site of involvement, Visual Analog Scale score for back pain, neurological status as per Frankel Neurology grading, and local kyphotic angle in X-ray were recorded. The median, interquartile range and percentage were calculated. The data was entered in Microsoft Excel 2016 and analysis was done using Epi Info software version 7.2. RESULTS: Thoracic level was most commonly involved in 14 (46.68%) cases. The median back pain as assessed by the Visual Analogue Scale score improved from 8 to 2 at the 6-month follow-up. There was improvement in the neurological grading of all cases and there was no loss of correction in the local kyphotic angle till the final follow-up. The median age of cases was 48 years (interquartile range: 28-62.50). CONCLUSIONS: Posterior instrumented stabilization and transpedicular decompression in adult patients with thoracic or lumbar spinal tuberculosis achieves improvements in clinical, radiological, and neurological outcomes.


Assuntos
Descompressão Cirúrgica , Vértebras Lombares , Centros de Atenção Terciária , Vértebras Torácicas , Tuberculose da Coluna Vertebral , Humanos , Estudos Transversais , Tuberculose da Coluna Vertebral/cirurgia , Tuberculose da Coluna Vertebral/diagnóstico , Masculino , Feminino , Adulto , Descompressão Cirúrgica/métodos , Vértebras Lombares/cirurgia , Pessoa de Meia-Idade , Vértebras Torácicas/cirurgia , Resultado do Tratamento , Nepal , Fusão Vertebral/métodos , Adulto Jovem , Medição da Dor , Dor nas Costas/etiologia
8.
Neurosurg Rev ; 47(1): 741, 2024 Oct 08.
Artigo em Inglês | MEDLINE | ID: mdl-39375262

RESUMO

Subarachnoid hemorrhage (SAH) has high mortality. Early brain injury (EBI) is responsible for unfavorable outcomes for patients with SAH. The protective involvement of autophagy in hemorrhagic stroke has been proposed. The transcription factor EB (TFEB) can increase autophagic flux by promoting autophagosome formation and autophagosome-lysosome fusion, and dysregulation of TFEB activity might induce the development of several diseases. However, the biological functions of TFEB in EBI after SAH remain unknown. We established an animal model of SAH by the modified endovascular perforation method. Expression of TFEB and autophagy required genes was measured by western blotting and immunofluorescence staining. SAH grading, brain water content and neurobehavioral functions were evaluated at 24 h post-SAH. Neuronal apoptosis in cerebral cortex was assessed by TUNEL staining and Fluoro Jade B staining. TFEB was downregulated in SAH rats, and its overexpression reduced brain edema and ameliorated neurological deficits of SAH rats. Additionally, the neuronal apoptosis induced by SAH was inhibited by TFEB overexpression. Moreover, TFEB overexpression promoted autophagy after SAH. TFEB overexpression promotes autophagy to inhibit neuronal apoptosis, brain edema and neurological deficits post-SAH.


Assuntos
Apoptose , Autofagia , Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos , Lesões Encefálicas , Hemorragia Subaracnóidea , Animais , Masculino , Ratos , Apoptose/fisiologia , Autofagia/fisiologia , Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos/metabolismo , Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos/genética , Edema Encefálico/patologia , Edema Encefálico/etiologia , Lesões Encefálicas/metabolismo , Lesões Encefálicas/patologia , Modelos Animais de Doenças , Neurônios/patologia , Neurônios/metabolismo , Ratos Sprague-Dawley , Hemorragia Subaracnóidea/patologia , Hemorragia Subaracnóidea/complicações
9.
J Child Neurol ; : 8830738241282722, 2024 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-39327954

RESUMO

The Hammersmith Neonatal (HNNE) and Infant (HINE) Neurological Examinations are increasingly used to evaluate developing neuromotor control in infants at risk for physical disability, but there is no global consensus on score interpretation across the first 6 months after birth. We report scores for typically developing, full-term infants aged 1 month for the HNNE and aged 2-6 months for the HINE. The median HNNE and HINE scores are consistent with previously published data. These normative data can be used to aid in the interpretation of HNNE and HINE scores from infants at risk for neuromotor impairment.

10.
Ther Adv Infect Dis ; 11: 20499361241274246, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39314743

RESUMO

There have been several major advances in therapeutic options for the treatment of neurological infections over the past two decades. These advances encompass both the development of new antimicrobial therapies and the repurposing of existing agents for new indications. In addition, advances in our understanding of the host immune response have allowed for the development of new immunomodulatory strategies in the treatment of neurological infections. This review focuses on the key advances in the treatment of neurological infections, including viral, bacterial, fungal, and prion diseases, with a particular focus on immunomodulatory treatment options. This review also highlights the process by which clinicians can request access to therapeutic agents on a compassionate or emergency basis when they may not be commercially available. While many therapeutic advances have been achieved in the past several years, there remains a pressing need for the continued development of additional therapeutic agents in the treatment of neurological infections.

11.
J Pers Med ; 14(9)2024 Sep 14.
Artigo em Inglês | MEDLINE | ID: mdl-39338228

RESUMO

Background: Haptic feedback is an established method to provide sensory information (tactile or kinesthetic) about the performance of an activity that an individual can not consciously detect. After a stroke, hemiparesis usually leads to gait and balance disorders, where haptic feedback can be a promising approach to promote recovery. The aim of the present study is to understand its potential effects on gait and balance impairments, both after interventions and in terms of immediate effects. Methods: This research was carried out using the following scientific databases: Embase, Scopus, Web of Science, and Medline/PubMed from inception to May 2024. The Checklist for Measuring quality, PEDro scale, and the Cochrane collaboration tool were used to assess the methodological quality and risk of bias of the studies. Results: Thirteen articles were chosen for qualitative analysis, with four providing data for the meta-analysis. The findings did not yield definitive evidence on the effectiveness of haptic feedback for treating balance and gait disorders following a stroke. Conclusions: Further research is necessary in order to determine the effectiveness of haptic feedback mechanisms, with larger sample sizes and more robust methodologies. Longer interventions and pre-post design in gait training with haptic feedback are necessary.

12.
Neurohospitalist ; 14(4): 446-449, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39308461

RESUMO

We describe a patient with extra-limbic seronegative encephalitis with relapsing progressive course as the harbinger of sequential Hodgkin's lymphoma and Diffuse Large B-Cell lymphoma. Diagnosis of probable paraneoplastic neurologic syndrome (PNS) was arrived at by exhaustive elimination of alternative causes and supportive tissue diagnosis. This case highlights the phenotypic variety of paraneoplastic neurologic syndromes associated with hematologic malignancies and the challenges in their recognition, diagnosis, and treatment. We discuss and apply the updated consensus diagnostic criteria for paraneoplastic syndromes to our case as a means of bolstering probability in cases of diagnostic uncertainty.

13.
Cureus ; 16(9): e69457, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39282488

RESUMO

Anti-Hu is the most commonly associated antibody in paraneoplastic syndromes (PNS) - mainly secondary to small cell lung cancer (SCLC), breast cancer, thymoma, and lymphoma. This case is about a 65-year-old female patient presenting with slurred speech, headache, and loss of balance for one day. On examination, she was found to have downbeat and bilateral gaze-evoked nystagmus, dysarthria, and bilateral intention tremors. The rest of the neurological examination was unremarkable. Upon investigation, a CT scan showed a pre-sacral mass and a PET scan showed a lobulated soft tissue mesenteric mass at L5/S1, thought to possibly be a gastrointestinal stromal tumour, and mediastinal lymph nodes including right lower pre-tracheal, subcarinal and right hilar lymph nodes. Additionally, paraneoplastic antibody testing was positive for anti-Hu antibodies. She was given a five-day course of intravenous immunoglobulin without significant clinical improvement. The patient was discharged on a fast-track pathway and did not undergo chemotherapy, radiotherapy or surgical resection as the primary tumour could not be diagnosed.  Paraneoplastic antibodies are a family of autoantibodies occurring as a result of malignancy that act to recognize antigens in the brain, resulting in a variety of neurological manifestations. Despite well-known literature on this entity, PNS is notoriously difficult to diagnose and manage. The first step in the management of PNS is to treat the underlying malignancy. Beyond this, the other key component of PNS treatment is immune modulation which may involve immunosuppression with high-dose corticosteroids, IV immunoglobulins, plasma exchange or plasmapheresis. It is therefore important for PNS to be diagnosed early and to adopt a comprehensive multidisciplinary approach to improve the outcomes of those presenting with PNS.

14.
Int J Environ Health Res ; : 1-8, 2024 Sep 17.
Artigo em Inglês | MEDLINE | ID: mdl-39287148

RESUMO

Our aim was to examine the relationship between Toxoplasma gondii (T. gondii) and Toxocara infection and patients with essential tremor (ET). This study comprised a total of 174 participants, consisting of 99 patients with ET and 75 healthy controls. The presence of anti-T. gondii IgG and anti-Toxocara IgG antibodies was investigated using ELISA. The relationship between the severity of the disease and the seropositivity of T. gondii and Toxocara were examined. The seropositivity rate for anti-T. gondii IgG antibodies among patients and control groups were 43.4% and 12%, respectively (odds ratio [OR]: 5.63; 95% CI: 2.53-12.56). The patient group exhibited a higher seroprevalence of anti-Toxocara IgG antibodies (32.3%) compared with the control group (13.3%; OR: 3.10; 95% CI: 1.41-6.83; p = 0.004). This study suggests that T. gondii and Toxocara infections can contribute to the pathogenic mechanisms underlying ET and could be risk factors for ET.

15.
Rev Neurol (Paris) ; 2024 Sep 16.
Artigo em Inglês | MEDLINE | ID: mdl-39289137

RESUMO

Paraneoplastic neurologic syndromes (PNS) are a group of disorders that affect the central and the peripheral nervous system and frequently occur in patients with cancer which usually still is undiagnosed by the time the patient presents the first neurological manifestations. The discovery in the serum and cerebrospinal fluid of PNS patients of antibodies that target tumor antigens that also are normally expressed in the nervous system had a significant impact. First, the research on neuronal antibodies confirmed that most PNS are autoimmune disorders triggered by the underlying cancer supporting the use of immunotherapy to treat them; second, although the first antibodies described recognized intracellular neuronal antigens and therefore they were not pathogenic, these antibodies became robust biomarkers for the strict diagnosis of PNS; and third, the methodological approach used to characterize the first neuronal antibodies paved the way to the identification of antibodies against neuronal surface antigens that are pathogenic and responsible for some PNS and non-paraneoplastic encephalitis. Future studies should address several issues: (1) to improve the efficiency of commercial kits; (2) to provide strict criteria to select which neural antibodies should be used for the diagnosis of PNS; and (3) define in more detail the autoimmune mechanisms responsible for the brain injury in the PNS.

16.
Am J Emerg Med ; 86: 1-4, 2024 Sep 17.
Artigo em Inglês | MEDLINE | ID: mdl-39305695

RESUMO

OBJECTIVE: To develop a translation between the Glasgow Come Scale and the Alert-Verbal-Pain-Unresponsive (AVPU) scale among adults with out-of-hospital emergencies. METHODS: We performed a retrospective analysis of adults (≥18 years) from the 2022 National Emergency Medical Services (EMS) Information System with a ground scene encounter with a concurrently documented GCS and AVPU assessment. Using a training partition of 2.5 million encounters, we performed a grid search to identify all combinations of mutually exclusive cutpoints which divided the GCS into four segments. We identified the combination with the highest Kappa statistic and reported metrics of performance in this sample in the test partition. RESULTS: We identified 16,321,299 encounters with a concurrent AVPU and GCS. Using the AVPU scale, 93.3 % were classified as Alert; 2.9 % as Verbal; 1.5 % as Pain; and 2.3 % as Unresponsive. Using a grid-based search, optimal cutpoints were identified when using a GCS of 14-15 for Alert, 10-13 for Verbal, 7-9 for Pain, and 3-6 for Unresponsive. Cohen's Kappa was 0.63 in the test partition, indicating substantial agreement. Intraclass F1 score varied across different alertness levels and were 0.97 for "Alert", 0.43 for "Verbal", 0.49 for "Pain", and 0.83 for "Unresponsive". Findings were similar in analyses performed by age group and by the presence or absence of trauma. CONCLUSION: We report an optimal crosswalk between the AVPU and GCS scales. Performance in the Verbal and Pain categories was lower than the Alert and Unresponsive categories. These findings may facilitate clinician handovers between EMS and non-EMS clinicians.

17.
Autism Res ; 2024 Sep 16.
Artigo em Inglês | MEDLINE | ID: mdl-39283002

RESUMO

The relatively few conditions and family member types (e.g., sibling, parent) considered in investigations of family health history in autism spectrum disorder (ASD, or autism) limits understanding of the role of family history in autism etiology. For more comprehensive understanding and hypothesis-generation, we produced an open-source catalog of autism associations with family histories of mental, neurologic, cardiometabolic, birth defect, asthma, allergy, and autoimmune conditions. All live births in Denmark, 1980-2012, of Denmark-born parents (1,697,231 births), and their 3-generation family members were followed through April 10, 2017 for each of 90 diagnoses (including autism), emigration or death. Adjusted hazard ratios (aHR) were estimated via Cox regression for each diagnosis-family member type combination, adjusting for birth year, sex, birth weight, gestational age, parental ages at birth, and number of family member types of index person; aHRs also calculated for sex-specific co-occurrence of each disorder. We obtained 6462 individual family history aHRS across autism overall (26,840 autistic persons; 1.6% of births), by sex, and considering intellectual disability (ID); and 350 individual co-occurrence aHRS. Results are cataloged in interactive heat maps and down-loadable data files: https://ncrr-au.shinyapps.io/asd-riskatlas/ and interactive graphic summaries: https://public.tableau.com/app/profile/diana.schendel/viz/ASDPlots_16918786403110/e-Figure5. While primarily for reference material or use in other studies (e.g., meta-analyses), results revealed considerable breadth and variation in magnitude of familial health history associations with autism by type of condition, family member type, sex of the family member, side of the family, sex of the index person, and ID status, indicative of diverse genetic, familial, and nongenetic autism etiologic pathways. Careful attention to sources of autism likelihood in family health history, aided by our open data resource, may accelerate understanding of factors underlying neurodiversity.

18.
NeuroRehabilitation ; 2024 Sep 09.
Artigo em Inglês | MEDLINE | ID: mdl-39269858

RESUMO

BACKGROUND: A field of study that uses telerehabilitation (TR) is neurorehabilitation; however, standards for medical and technological applications, medicolegal and ethical regulations, and other aspects of neuro-TR are still being developed. OBJECTIVE: To address the prerequisites and barriers for implementing TR in neurorehabilitation in the light of present findings. METHODS: A narrative review was conducted based on specific questions about the prerequisites for neuro-TR and barriers to its implication. According to a foreground search strategy in the context of neurorehabilitation using TR in neurological patient population, PubMed, EMBASE and Cochrane databases were searched and reviewed. RESULTS: Barriers and prerequisites for neuro-TR were mostly grouped under the categories of administrative/organizational, human (beneficiaries/providers), technical, and ethical. Apart from the technical framework, knowledge and the presence of an administrative leader responsible for overseeing TR are crucial prerequisites. The internet and technological constraints rank highest among the barriers. CONCLUSION: Since neuro-TR is relatively new with minimal guidelines and regulations, highly technologic, and lack of established practices, it is imperative to determine and fully comprehend the criteria for its uses. After the prerequisites are established, it is imperative to recognize and address implementation constraints, which may differ depending on the community's infrastructure and neurologic condition.

19.
Clin Imaging ; 115: 110281, 2024 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-39270429

RESUMO

PURPOSE: To characterize brain MR imaging findings in a cohort of 58 patients with ECD and to evaluate relationship between these findings and the BRAFV600E pathogenic variant. METHODS: ECD patients of any gender and ethnicity, aged 2-80 years, with biopsy-confirmed ECD were eligible to enroll in this study. Two radiologists experienced in evaluating ECD CNS disease activity reviewed MRI studies. Any disagreements were resolved by a third reader. Frequencies of observed lesions were reported. The association between the distribution of CNS lesions and the BRAFV600Epathogenic variant was evaluated using Fisher's exact test and odd ratio. RESULTS: The brain MRI of all 58 patients with ECD revealed some form of CNS lesions, most likely due to ECD. Cortical lesions were noted in 27/58 (46.6 %) patients, cerebellar lesions in 15/58 (25.9 %) patients, brain stem lesions in 17/58 cases (29.3 %), and pituitary lesions in 10/58 (17.2 %) patients. Premature cortical atrophy was observed in 8/58 (13.8 %) patients. BRAFV600E pathogenic variant was significantly associated with cerebellar lesions (p = 0.016) and bilateral brain stem lesions (p = 0.043). A trend toward significance was noted for cerebral atrophy (p = 0.053). CONCLUSION: The study provides valuable insights into the brain MRI findings in ECD and their association with the BRAFV600E pathogenic variant, particularly its association in cases with bilateral lesions. We are expanding our understanding of how ECD affects cerebral structures. Knowledge of MRI CNS lesion patterns and their association with mutations such as the BRAF variant is helpful for both prognosis and clinical management.

20.
World J Pediatr Congenit Heart Surg ; : 21501351241269963, 2024 Sep 12.
Artigo em Inglês | MEDLINE | ID: mdl-39267395

RESUMO

Background: Unrecognized intraoperative cerebral ischemia during neonatal aortic arch reconstruction may precede neurologic injury. Electroencephalogram (EEG) alpha:delta ratio (A:D) changes predict cerebral ischemia; however, if A:D differences can identify ischemia during neonatal antegrade cerebral perfusion (ACP) and aortic arch reconstruction is unknown. We hypothesized that A:D changes would precede neurologic injury. Methods: Simultaneous EEG derived left versus right: hemispheric and anterior cerebral A:Ds were retrospectively measured at baseline and every 5 min during arterial cannulation, cooling, ACP, and the rewarming phases of the operation. A paired left versus right A:D difference >25% was considered significant for ischemia, and the duration of a significant and continuous A:D difference was quantified in minutes. Neonates were divided into two groups: (1) new neurologic injury (stroke or seizure) and (2) no known neurologic injury. Results: From 72 neonates, there were no significant differences in the baseline A:Ds. Seven neonates (9.7%) developed a new neurologic injury (seizure = 3, stroke = 2, seizure and stroke = 2). Male gender and longer ACP times were significantly associated with neurologic injury. In neonates with a neurologic injury, the duration of a significant and continuous A:D difference was longer within the hemispheric and anterior regions. Multivariable analysis demonstrated that a significant and continuous anterior A:D difference (odds ratio: 1.345, 95% CI 1.058-1.712; P = .01) was independently associated with neurologic injury. Conclusions: A longer continuous anterior A:D difference > 25% was independently associated with neurologic injury. Intraoperative EEG monitoring could be considered during neonatal arch reconstruction.

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