Predictive nomograms and an algorithm for managing patients with probable Meniere's disease.

Purpose: To explore the efficacy of diagnostic tests in accurately reclassifying patients initially diagnosed with probable Meniere's disease (MD) into either definite or non-MD categories.

Materials And Methods: A retrospective cohort study was conducted at a neurotology clinic between 1/2016 and 5/2022. Patients underwent a battery of tests, from which sensitivity, specificity, positive and negative predictive values, as well as positive and negative likelihood ratios, were calculated.

Eosinophilic Pleocytosis in the Cerebrospinal Fluid following CAR-T Cell Therapy for Central Nervous System Lymphoma: A Case for Warning?

Introduction: Chimeric antigen receptor T (CAR-T) cell therapy, emerging as an efficient treatment option for patients with secondary central nervous system (CNS) lymphoma, is frequently complicated with immune effector cell-associated neurotoxicity syndrome (ICANS).

Case Presentation: We report a case of a 64-year-old woman with transformed follicular lymphoma, developing high-grade ICANS with eosinophilic pleocytosis following third-line therapy with CAR-T cells (tisagenlecleucel). During bridging therapy, she declined neurologically and was diagnosed with secondary CNS lymphoma.

Unveiling the vulnerability of the human abducens nerve: insights from comparative cranial base anatomy in mammals and primates.

The topographic anatomy of the abducens nerve has been the subject of research for more than 150 years. Although its vulnerability was initially attributed to its length, this hypothesis has largely lost prominence. Instead, attention has shifted toward its intricate anatomical relations along the cranial base.

Mechanism underlying painful radiculopathy in patients with lumbar disc herniation.

Background: Painful lumbar radiculopathy is a neuropathic pain condition, commonly attributed to nerve root inflammation/compression by disc herniation. The present exploratory study searched for associations between pain intensity and inflammatory markers, herniated disc size, infection, psychological factors and pain modulation in patients with confirmed painful lumbar radiculopathy scheduled for spine surgery.

Methods: Prior to surgery, 53 patients underwent the following evaluation: pain intensity measured on a 0-10 numeric rating scale (NRS) and the Short-Form McGill Pain Questionnaire; sensory testing (modified DFNS protocol); pain processing including temporal summation and conditioned pain modulation (CPM); neurological examination; psychological assessment including Spielberger's Anxiety Inventory, Pain Sensitivity Questionnaire and the Pain Catastrophizing Scale.

Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants.

Background: We aimed to determine the molecular and biochemical basis of an extended highly consanguineous family with multiple children presenting severe congenital hypotonia.

Methods: Clinical investigations, homozygosity mapping, linkage analyses and whole exome sequencing, were performed. mRNA and protein levels were determined.

Changes in Brain Volume Resulting from Cognitive Intervention by Means of the Feuerstein Instrumental Enrichment Program in Older Adults with Mild Cognitive Impairment (MCI): A Pilot Study.

There is increasing interest in identifying biological and imaging markers for the early detection of neurocognitive decline. In addition, non-pharmacological strategies, including physical exercise and cognitive interventions, may be beneficial for those developing cognitive impairment. The Feuerstein Instrumental Enrichment (FIE) Program is a cognitive intervention based on structural cognitive modifiability and the mediated learning experience (MLE) and aims to promote problem-solving strategies and metacognitive abilities.

Bariatric Surgery-Associated Myelopathy.

Bariatric surgery is gaining acceptance as an efficient treatment modality for adults and adolescents with morbid obesity. The early postbariatric period has the potential to induce an immunomodulatory imbalance due to the development or worsening of nutritional deficiencies, changes in hormonal balance (specifically after sleeve gastrectomy), and a shift in the proinflammatory cytokine profile along with a major change in the gut microbiome and permeability. These changes may induce encephalomyelitic T cell activity, change neural barrier permeability, and induce gut dysbioisis, favoring a proinflammatory metabolic profile.

Diagnostic correlation between clinical protocols and magnetic resonance findings in temporomandibular disorders: A systematic review and meta-analysis.

Background: Our aim was to assess the diagnostic correlation between clinical protocols and magnetic resonance (MRI) findings in temporomandibular disorders (TMDs), including disc displacement with and without reduction (DDwR; DDwoR) and arthralgia.

Methods: A systematic review performed in two phases according to the PRISMA checklist. Specific indexing terms were used for search of studies assessing TMDs through clinical diagnostic protocols with the aid of Research Diagnostic Criteria for TMDs or Diagnostic Criteria for TMDs.

Long-Term Quality of Life after Endoscopic Pituitary Adenoma Surgery with Nasoseptal Flap Reconstruction.

Introduction: Endoscopic endonasal transsphenoidal surgery (EETS) on the pituitary gland is considered safe and efficacious. The nasoseptal flap (NSF) is sometimes used to prevent or repair postoperative cerebrospinal fluid (CSF) leaks. Few investigators have quantified long-term quality-of-life (QOL) outcomes regarding sinonasal measures after EETS, with or without involvement of the NSF.

Q Fever Vertebral Osteomyelitis Complicating Vertebroplasty.

Query (Q) fever is a zoonotic bacterial infection caused by Coxiella burnetii. In a minority of patients, chronic disease can occur after acute infection. Endocarditis and infections of aneurysms or vascular prostheses are the most common forms of chronic Q fever in adults.

COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.

COG6-congenital disorder of glycosylation (COG6-CDG) is caused by biallelic mutations in COG6. To-date, 12 variants causing COG6-CDG in less than 20 patients have been reported. Using whole exome sequencing we identified two siblings with a novel homozygous deletion of 26 bp in COG6, creating a splicing variant (c.

Survival impact of the time gap between surgery and chemo-radiotherapy in Glioblastoma patients.

Glioblastoma treatment protocol includes chemo-radiation (CRT) after maximal safe resection. However, the recommended time-gap between surgery and CRT is unclear, most trials protocol required an interval of less than 6 weeks. In the current study we evaluated the association of the time-gap between surgery and CRT to overall survival (OS) and progression free survival (PFS) in a tertiary center.

Infarct Core Reliability by CT Perfusion is a Time-Dependent Phenomenon.

Background And Purpose: In the setting of an extended time window for endovascular treatment (EVT) for acute stroke patients, computed tomography perfusion (CTP) has become a major tool in patient selection. However, there are some data suggesting that the initial ischemic core may be overestimated by CTP depending on stroke onset time. This study aims to evaluate possible predictors of overestimation of infarct core by CTP.

Tremor Relief and Structural Integrity after MRI-guided Focused US Thalamotomy in Tremor Disorders.

Background MRI-guided focused US thalamotomy of ventral intermediate nucleus of the thalamus is a treatment for tremor disorders. Purpose To evaluate white matter integrity before and after thalamotomy and its correlation with clinical outcome. Materials and Methods Participants with essential tremor (ET) or Parkinson disease (PD) undergoing thalamotomy were prospectively recruited between March 2016 and October 2018.

Tumor Board Report: The value of tissue diagnosis.

Intracranial lesions in the presence of a known cancer are highly suspicious for brain metastases. Lung cancer is the most common solid tumor responsible for brain metastases. This case emphasizes the importance of multidisciplinary tumor boards including a dedicated neuroradiologist in the management of patients with cancer.

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.

Ohtahara syndrome, early infantile epileptic encephalopathy with a suppression burst EEG pattern, is an aetiologically heterogeneous condition starting in the first weeks or months of life with intractable seizures and profound developmental disability. Using whole exome sequencing, we identified biallelic DMXL2 mutations in three sibling pairs with Ohtahara syndrome, belonging to three unrelated families. Siblings in Family 1 were compound heterozygous for the c.

Magnetic resonance-guided focused ultrasound thalamotomy for essential tremor: a 5-year single-center experience.

Objective: The authors report their experience in treating patients suffering from medication-resistant essential tremor (ET) with MR-guided focused ultrasound (MRgFUS) thalamotomy over a 5-year period.

Methods: Forty-four ET patients treated with unilateral MRgFUS ventral intermediate nucleus (VIM) thalamotomy were assessed using the Clinical Rating Scale for Tremor (CRST) score and the Quality of Life in Essential Tremor Questionnaire (QUEST) over a 5-year span.

Results: Tremor was significantly improved immediately following MRgFUS in all patients and ceased completely in 24 patients.

Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review.

D-glycerate 2 kinase (DGK) is an enzyme that mediates the conversion of D-glycerate, an intermediate metabolite of serine and fructose metabolism, to 2-phosphoglycerate. Deficiency of DGK leads to accumulation of D-glycerate in various tissues and its massive excretion in urine. D-glyceric aciduria (DGA) is an autosomal recessive metabolic disorder caused by mutations in the GLYCTK gene.

Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder.

We report a patient who presented with congenital hypotonia, hypoventilation, and cerebellar histopathological alterations. Exome analysis revealed a homozygous mutation in the initiation codon of the gene, which encodes an NDP kinase. The initiation-codon mutation leads to deficiency in NME3 protein expression.

MRI in predicting conversion to multiple sclerosis within 1 year.

Objectives: Most patients diagnosed with multiple sclerosis (MS) present with a clinically isolated syndrome (CIS). We aimed to verify previously reported imaging and clinical findings, and to identify new MRI findings that might serve as prognostic factors for a second clinical episode or a change in the MRI scan during the first year following a CIS.

Materials And Methods: We identified from our medical records, 46 individuals who presented with an episode of CIS, which was followed clinically and with imaging studies.

EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humans.

Ethanolamine phosphotransferase (EPT)1, also known as selenoprotein 1 (SELENOI), is an enzyme that transfers phosphoethanolamine from cytidine diphosphate-ethanolamine to lipid acceptors to produce ethanolamine glycerophospholipids, such as diacyl-linked phosphatidylethanolamine (PE) and ether-linked plasmalogen [1-alkenyl-2-acyl-glycerophosphoethanolamine (plasmenyl-PE)]. However, to date there has been no analysis of the metabolomic consequences of the mutation of on the concentration of ethanolamine glycerophospholipids in mammalian cells. We studied a patient with severe complicated hereditary spastic paraplegia, sensorineural-deafness, blindness, and seizures.

Vestibular Derangement and Motion Intolerance in VATER Association.

VATER association is a nonrandom occurrence of congenital malformations: vertebral defects, anal atresia, tracheoesophageal fistula, renal defects, and radial bone anomalies. We report the case of a 19-year-old man with a childhood diagnosis of VATER association, who presented to the motion sickness clinic with severe seasickness. We discuss the clinical and laboratory diagnosis of vestibular pathophysiology, which was confirmed by MRI of lateral semicircular canal and vestibule dysplasia.

Magnetic resonance-guided focused ultrasound thalamotomy for tremor: a report of 30 Parkinson's disease and essential tremor cases.

OBJECTIVE Thalamotomy of the ventral intermediate nucleus (VIM) is effective in alleviating medication-resistant tremor in patients with essential tremor (ET) and Parkinson's disease (PD). MR-guided focused ultrasound (MRgFUS) is an innovative technology that enables noninvasive thalamotomy via thermal ablation. METHODS Patients with severe medication-resistant tremor underwent unilateral VIM thalamotomy using MRgFUS.