Neurological Evaluation Research Articles

432 A Rare Case of Ipsilateral Foot Drop Due to Common Peroneal Nerve Palsy at the Level of Fibular Head Following Total Hip Arthroplasty

Abstract Background Common peroneal nerve (CPN) palsy after primary total hip arthroplasty (THA) is a rare complication with poor functional outcome and has a prevalence of 0.3-2.1%. Case Presentation A 77-year-old gentleman was diagnosed with severe osteoarthritis of the left hip and underwent a hybrid left total hip replacement via posterior approach in right-lateral position. There was no usage of spinal anaesthesia, leakage from the wound, intra-operative nerve injury or any localised haematoma. Post-operatively on day 3, he was noted to have foot drop with loss of foot eversion and dorsiflexion with sensory loss along the distribution of the superficial peroneal and tibial nerve. Clinical Outcomes Nerve conduction study of left lower limb showed absent left superficial peroneal sensory response, absent left peroneal to extensor digitorum brevis and tibialis anterior motor responses with denervation across the anterior and lateral left lower leg muscles suggestive of a severe partial lesion of the left common peroneal nerve at the level of fibular head. Patient was placed in a foot drop splint with follow-up neurological evaluation. Discussion Post-operative CPN palsy are mostly neuropraxias caused due to direct compression, either by surgical instruments or anatomical structures, or from tension or ischemia to the nerve during intra-operative limb manipulation or limb lengthening. Additionally, usage of cement less components combined with Enoxaparin or due to any haematoma may compress the nerve. Age, BMI and initial severity of sensory and motor neurological deficits are prognostic factors indicating recovery. Full recovery is between 16-56% of cases at an average of 15 months.

The Key Aspects of Neonatal and Infant Neurological Examination: The Ballard Score, the Infant's Head with Hydrocephalus and Assessment in a Clinical Setting.

The physical examination of the newborn is essential in diagnosing neurological or neurosurgical conditions in the newborn. This article focuses on three clinical assessments of newborns and infants that are especially important if neurological problems are suspected: The Ballard score, the examination of the head in a baby with (suspected) hydrocephalus, and the neurological and developmental evaluation of an infant in an ambulatory setting. A textual description and a link to a video describe each assessment.

The Objective Dementia Severity Scale Based on MRI with Contrastive Learning: A Whole Brain Neuroimaging Perspective.

In the clinical treatment of Alzheimer's disease, one of the most important tasks is evaluating its severity for diagnosis and therapy. However, traditional testing methods are deficient, such as their susceptibility to subjective factors, incomplete evaluation, low accuracy, or insufficient granularity, resulting in unreliable evaluation scores. To address these issues, we propose an objective dementia severity scale based on MRI (ODSS-MRI) using contrastive learning to automatically evaluate the neurological function of patients. The approach utilizes a deep learning framework and a contrastive learning strategy to mine relevant information from structural magnetic resonance images to obtain the patient's neurological function level score. Given that the model is driven by the patient's whole brain imaging data, but without any possible biased manual intervention or instruction from the physician or patient, it provides a comprehensive and objective evaluation of the patient's neurological function. We conducted experiments on the Alzheimer's disease Neuroimaging Initiative (ADNI) dataset, and the results showed that the proposed ODSS-MRI was correlated with the stages of AD 88.55% better than all existing methods. This demonstrates its efficacy to describe the neurological function changes of patients during AD progression. It also outperformed traditional psychiatric rating scales in discriminating different stages of AD, which is indicative of its superiority for neurological function evaluation.

Ulnar-Sided Upper Extremity Traumatic Wounds: What Should We Expect to Find?

Background: Upper limb traumatic injuries have a significant impact on social and professional life; however, there is still a paucity of studies focusing on the injuries of the ulnar border of the forearm, wrist and hand. Methods: We designed a retrospective single-blinded study, including all patients with deep traumatic wounds affecting the ulnar side of the forearm, wrist or hand, that received surgical treatment from 2006 until 2016. A characterisation of the sample, assessment of concomitant injuries and clinical outcomes, as well as neurological and functional evaluation were performed. Results: We obtained a sample of 61 patients, 69% with injuries affecting the wrist and 90% of patients with a neurological lesion, most frequently of the ulnar nerve lesion (UNL). Concomitant injuries included tendinous lesions, more frequently of the flexor carpi ulnaris (64%) and fractures (13%). And 39% of patients presented an ulnar artery lesion, without significant differences in outcomes regarding the completion of arteriorrhaphy or not. At the end of the 8.6 years follow-up, 34% of patients had no deficits; however, patients with UNL showed worse functional scores and greater risk of sequelae. Besides motor function compromise, sensory deficits were also associated with worst functional outcomes. Conclusions: The UNL subgroup showed important impairment of the first ray, probably related to the level of UNL. Furthermore, besides the implications of the motor sequelae, sensory deficits were also associated with worst functional scores. Due to the high percentage of neurovascular and tendinous lesions in ulnar-sided upper extremity wounds, the authors recommend surgical exploration of these lesions. Level of Evidence: Level IV (Therapeutic).

Pediatric ECLS Neurologic Management and Outcomes

Neurologic complications associated with extracorporeal life support (ECLS), including seizures, ischemia/infarction, and intracranial hemorrhage significantly increase morbidity and mortality in pediatric and neonatal patients. Prompt recognition of adverse neurologic events may provide a window to intervene with neuroprotective measures. Many neuromonitoring modalities are available with varying benefits and limitations. Several pre-ECLS and ECLS-related factors have been associated with an increased risk for neurologic complications. These may be patient- or circuit-related and include modifiable and non-modifiable factors. ECLS survivors are at risk for long-term neurological sequelae affecting neurodevelopmental outcomes. Possible long-term outcomes range from normal development to severe impairment. Patients should undergo a neurological evaluation prior to discharge, and neurodevelopmental assessments should be included in each patient's structured, multidisciplinary follow-up.Safe pediatric and neonatal ECLS management requires a thorough understanding of neurological complications, neuromonitoring techniques and limitations, considerations to minimize risk, and an awareness of possible long-term ramifications. With a focus on ECLS for respiratory failure, this manuscript provides a review of these topics and summarizes best practice guidelines from international organizations and expert consensus.

Symptom aggravation after withdrawal of metal chelating agent therapy in patients with Wilson's disease.

To study the aggravation of clinical symptoms after discontinuation of metal chelating agent therapy in Wilson's disease (WD) patients, analyze the causes of aggravation, and observe the prognosis. 40 WD patients (cerebral type 30 cases and hepatic type 10 cases) who stopped using metal chelating agent were selected, 40 WD patients with normal therapy, and 10 normal control cases were selected. All patients underwent neurological symptom evaluation using modified Young scale, Child-Pugh liver function grading, metal metabolism, and disease typing. Magnetic sensitivity imaging (SWI), diffusion tensor imaging (DTI), and magnetic resonance spectroscopy imaging (MRS) were performed. According to the imaging results, WD patients were divided into metal deposition stage, fiber damage stage, and neuron necrosis stage. All patients were treated with metal chelating agent for 6 months. The score of modified Young scale in drug withdrawal group was lower than that in normal treatment group before drug withdrawal (p=.032). The score of modified Young scale was higher after drug withdrawal than before (p=.011). The number of Child-Pugh B-grade patients after drug withdrawal was more than that before drug withdrawal and in normal treatment group. The proportion of patients in the stage of neuronal necrosis after drug withdrawal (25%) was higher than that before drug withdrawal (10%) (p=.025). After drug withdrawal, urine copper was significantly higher than that before drug withdrawal and in the normal treatment group (p=.032, .039). After the withdrawal group resumed metal chelating agent treatment, 34.2% of neurological symptoms worsened. WD patients showed neurological symptoms aggravation and increased liver injury after metal chelating agent withdrawal. Increased metal deposition and new nerve injury occurred in the brain. After re-treatment, the aggravated neurological symptoms of WD patients are difficult to reverse.

Unipedicular-Screw Index Vertebra Manipulation Technique for Minimally Invasive Short-Segment Thoracolumbar Fracture Fixation.

Minimally invasive spine surgery (MIS) has revolutionized fixation of thoracolumbar fractures with burst elements. Recent studies have proven that percutaneous pedicle screw instrumentation is as effective as open instrumentation but with reduced intraoperative blood loss and operative duration. Techniques such as short-segment pedicle screw fixation including the fractured vertebra have shown satisfactory radiological correction and functional outcomes, avoiding the need for extensile posterior constructs. In the present study, the authors our technique utilizing unipedicular index vertebra fixation and manipulation in MIS for thoracolumbar fractures with burst elements. To our knowledge, this technique is not well described in literature as open approaches are often adopted for the above. The authors sought to highlight the 2-year radiological and functional outcomes of 20 consecutive patients who underwent this technique. A retrospective review of prospectively collected data was conducted on 20 patients with thoracolumbar fractures with burst elements who underwent fixation using our technique. Patient data collected included demographic characteristics, mechanism of injury, associated injuries, neurological deficit at the time of admission, pre- and postoperative neurological evaluation, and length of hospital stay. Radiological investigations included plain radiographs, computed tomography of the spine with reconstruction, and magnetic resonance imaging of the spine, which provided data for radiological fracture classifications such as AO Spine and derivation of Thoracolumbar Injury Classification and Severity Score, as well as preoperative planning. Radiological investigations in the postoperative period were carried out by standing radiographs or EOS whole spine at each postoperative follow-up for up to 2 years. Radiological parameters-vertebral wedge angle, regional kyphosis angle, coronal Cobb angle, and anterior and posterior vertebral body heights-were recorded at preoperative, intraoperative, postoperative, and up to 2-year follow-up. Clinical outcome scores (visual analog score [VAS] and Oswestry Disability Index [ODI]) were also recorded at similar timepoints. Radiological outcomes reflect significant lordotic corrections of the vertebral wedge angles up to 2-year follow-up when compared with preoperative values (intraoperative: P = 0.06; postoperative: P = 0.001; 3 months: P = 0.002; 6 months: P = 0.004; 1 year: P = 0.011; 2 years: P = 0.016). Additionally, significant lordotic corrections of regional kyphosis angles (intraoperative: P = 0.00; postoperative: P = 0.00; 3 months: P = 0.031; 6 months: P = 0.039) and increases in anterior vertebral body heights (postoperative: P = 0.001; 3 months: P = 0.010; 6 months: P = 0.020) at up to 6-month follow-up were found. Preoperatively, median VAS of 85 (range 30-100) and ODI of 90 (range 40-98) were recorded. Statistically significant improvements in VAS and ODI were found across all timepoints when compared with preoperative values, with a mean VAS of 11.5 (SD 4.8) and ODI of 9.9 (SD 4.5) at 2-year follow-up. Surgical management of thoracolumbar fractures with or without neurological deficit has a role in reducing nursing requirements and postoperative morbidity in patients with polytrauma and other associated injuries. Our approach in treating thoracolumbar fractures with burst elements using MIS short-segment fixation and unipedicular screw manipulation technique shows satisfactory radiological correction and high rates of fracture union while reducing approach-related morbidity and improving functional outcomes.

Transcranial focused ultrasound stimulation of cortical and thalamic somatosensory areas in human.

The effects of transcranial focused ultrasound (FUS) stimulation of the primary somatosensory cortex and its thalamic projection (i.e., ventral posterolateral nucleus) on the generation of electroencephalographic (EEG) responses were evaluated in healthy human volunteers. Stimulation of the unilateral somatosensory circuits corresponding to the non-dominant hand generated EEG evoked potentials across all participants; however, not all perceived stimulation-mediated tactile sensations of the hand. These FUS-evoked EEG potentials (FEP) were observed from both brain hemispheres and shared similarities with somatosensory evoked potentials (SSEP) from median nerve stimulation. Use of a 0.5 ms pulse duration (PD) sonication given at 70% duty cycle, compared to the use of 1 and 2 ms PD, elicited more distinctive FEP peak features from the hemisphere ipsilateral to sonication. Although several participants reported hearing tones associated with FUS stimulation, the observed FEP were not likely to be confounded by the auditory sensation based on a separate measurement of auditory evoked potentials (AEP) to tonal stimulation (mimicking the same repetition frequency as the FUS stimulation). Off-line changes in resting-state functional connectivity (FC) associated with thalamic stimulation revealed that the FUS stimulation enhanced connectivity in a network of sensorimotor and sensory integration areas, which lasted for at least more than an hour. Clinical neurological evaluations, EEG, and neuroanatomical MRI did not reveal any adverse or unintended effects of sonication, attesting its safety. These results suggest that FUS stimulation may induce long-term neuroplasticity in humans, indicating its neurotherapeutic potential for various neurological and neuropsychiatric conditions.

Fractalkine Enhances Hematoma Resolution and Improves Neurological Function via CX3CR1/AMPK/PPARγ Pathway After GMH.

Hematoma clearance has been a proposed therapeutic strategy for hemorrhagic stroke. This study investigated the impact of CX3CR1 (CX3C chemokine receptor 1) activation mediated by r-FKN (recombinant fractalkine) on hematoma resolution, neuroinflammation, and the underlying mechanisms involving AMPK (AMP-activated protein kinase)/PPARγ (peroxisome proliferator-activated receptor gamma) pathway after experimental germinal matrix hemorrhage (GMH). A total of 313 postnatal day 7 Sprague Dawley rat pups were used. GMH was induced using bacterial collagenase by a stereotactically guided infusion. r-FKN was administered intranasally at 1, 25, and 49 hours after GMH for short-term neurological evaluation. Long-term neurobehavioral tests (water maze, rotarod, and foot-fault test) were performed 24 to 28 days after GMH with the treatment of r-FKN once daily for 7 days. To elucidate the underlying mechanism, CX3CR1 CRISPR, or selective CX3CR1 inhibitor AZD8797, was administered intracerebroventricularly 24 hours preinduction of GMH. Selective inhibition of AMPK/PPARγ signaling in microglia via intracerebroventricularly delivery of liposome-encapsulated specific AMPK (Lipo-Dorsomorphin), PPARγ (Lipo-GW9662) inhibitor. Western blot, Immunofluorescence staining, Nissl staining, Hemoglobin assay, and ELISA assay were performed. The brain expression of FKN and CX3CR1 were elevated after GMH. FKN was expressed on both neurons and microglia, whereas CX3CR1 was mainly expressed on microglia after GMH. Intranasal administration of r-FKN improved the short- and long-term neurobehavioral deficits and promoted M2 microglia polarization, thereby attenuating neuroinflammation and enhancing hematoma clearance, which was accompanied by an increased ratio of p-AMPK (phosphorylation of AMPK)/AMPK, Nrf2 (nuclear factor erythroid 2-related factor 2), PPARγ, CD36 (cluster of differentiation 36), CD163 (hemoglobin scavenger receptor), CD206 (the mannose receptor), and IL (interleukin)-10 expression, and decreased CD68 (cluster of differentiation 68), IL-1β, and TNF (tumor necrosis factor) α expression. The administration of CX3CR1 CRISPR or CX3CR1 inhibitor (AZD8797) abolished the protective effect of FKN. Furthermore, selective inhibition of microglial AMPK/PPARγ signaling abrogated the anti-inflammation effects of r-FKN after GMH. CX3CR1 activation by r-FKN promoted hematoma resolution, attenuated neuroinflammation, and neurological deficits partially through the AMPK/PPARγ signaling pathway, which promoted M1/M2 microglial polarization. Activating CX3CR1 by r-FKN may provide a promising therapeutic approach for treating patients with GMH.

Long-term effects of subthalamic nucleus deep brain stimulation on speech in Parkinson’s disease

Bilateral subthalamic nucleus deep brain stimulation (STN-DBS) is an effective treatment in advanced Parkinson’s Disease (PD). However, the effects of STN-DBS on speech are still debated, particularly in the long-term follow-up. The objective of this study was to evaluate the long-term effects of bilateral STN-DBS on speech in a cohort of advanced PD patients treated with bilateral STN-DBS. Each patient was assessed before surgery through a neurological evaluation and a perceptual-acoustic analysis of speech and re-assessed in the long-term in different stimulation and drug conditions. The primary outcome was the percentage change of speech intelligibility obtained by comparing the postoperative on-stimulation/off-medication condition with the preoperative off-medication condition. Twenty-five PD patients treated with bilateral STN-DBS with a 5-year follow-up were included. In the long-term, speech intelligibility stayed at the same level as preoperative values when compared with preoperative values. STN-DBS induced a significant acute improvement of speech intelligibility (p < 0.005) in the postoperative assessment when compared to the on-stimulation/off-medication and off-stimulation/off-medication conditions. These results highlight that STN-DBS may handle speech intelligibility even in the long-term.

Neuropsychological measures of post-COVID-19 cognitive status.

COVID-19 may result in persistent symptoms in the post-acute phase, including cognitive and neurological ones. The aim of this study is to investigate the cognitive and neurological features of patients with a confirmed diagnosis of COVID-19 evaluated in the post-acute phase through a direct neuropsychological evaluation. Individuals recovering from COVID-19 were assessed in an out-patient practice with a complete neurological evaluation and neuropsychological tests (Mini-Mental State Examination; Rey Auditory Verbal Test, Multiple Feature Target Cancellation Test, Trial Making Test, Digit Span Forward and Backward, and Frontal Assessment Battery). Pre- and post-COVID-19 global and mental health status was assessed along with the history of the acute phase of infection. Post-COVID-19 cognitive status was modeled by combining persistent self-reported COVID-related cognitive symptoms and pathologic neuropsychological tests. A total of 406 individuals (average age 54.5 ± 15.1 years, 45.1% women) were assessed on average at 97.8 ± 48.0 days since symptom onset. Persistent self-reported neurological symptoms were found in the areas of sleep (32%), attention (31%), and memory (22%). The MMSE mean score was 28.6. In total, 84 subjects (20.7%) achieved pathologic neuropsychological test results. A high prevalence of failed tests was found in digit span backward (18.7%), trail making (26.6%), and frontal assessment battery (10.9%). Cognitive status was associated with a number of factors including cardiovascular disease history, persistent fatigue, female sex, age, anxiety, and mental health stress. COVID-19 is capable of eliciting persistent measurable neurocognitive alterations particularly relevant in the areas of attention and working memory. These neurocognitive disorders have been associated with some potentially treatable factors and others that may stratify risk at an early stage.

Blood Pressure Targets for Out-of-Hospital Cardiac Arrest: A Systematic Review and Meta-Analysis.

With ideal mean arterial pressure (MAP) targets in resuscitated out-of-hospital cardiac arrest (OHCA) patients unknown, we performed a meta-analysis of randomised controlled trials (RCTs) to compare the effects of higher versus lower MAP targets. We searched four databases until 1 May 2023 for RCTs reporting the effects of higher MAP targets (>70 mmHg) in resuscitated OHCA patients and conducted random-effects meta-analyses. The primary outcome was mortality while secondary outcomes were neurological evaluations, arrhythmias, acute kidney injury, and durations of mechanical ventilation and ICU stay. We conducted inverse-variance weighted strata-level meta-regression against a proportion of non-survivors to assess differences between reported MAPs. We also conducted a trial sequential analysis of RCTs. Four RCTs were included. Higher MAP was not associated with reduced mortality (OR: 1.09, 95%-CI: 0.84 to 1.42, p = 0.51), or improved neurological outcomes (OR: 0.99, 95%-CI: 0.77 to 1.27, p = 0.92). Such findings were consistent despite additional sensitivity analyses. Our robust variance strata-level meta-regression revealed no significant associations between mean MAP and the proportion of non-survivors (B: 0.029, 95%-CI: -0.023 to 0.081, p = 0.162), and trial sequential analysis revealed no meaningful survival benefit for higher MAPs. A higher MAP target was not significantly associated with improved mortality and neurological outcomes in resuscitated OHCA patients.

Neuroprotective Effects of Niacin on Ischemia/Reperfusion Injury of the Rabbit Spinal Cord

Previous studies have shown niacin has neuroprotective effects on the central nervous system. However, its specific effect on spinal cord ischemia/reperfusion injury has not yet been explored. This study aims to evaluate whether niacin can contribute neuroprotective effects on spinal cord ischemia/reperfusion injury. Rabbits were randomized into 4 groups of 8 animals: group I (control), group II (ischemia), group III (30mg/kg methylprednisolone, intraperitoneal), and group IV (500mg/kg niacin, intraperitoneal). The rabbits in group IV were premedicated with niacin for 7days prior to inducing ischemia/reperfusion injury. The control group was subjected only to a laparotomy, while the remaining groups underwent spinal cord ischemia through a 20-minute occlusion of the aorta caudal to the left renal artery. Following the procedure, levels of catalase, malondialdehyde, xanthine oxidase, myeloperoxidase, and caspase-3 were analyzed. Ultrastructural, histopathological, and neurological evaluations were also performed. Spinal cord ischemia/reperfusion injury resulted in increased levels of xanthine oxidase, malondialdehyde, myeloperoxidase, and caspase-3, with a concomitant decrease in catalase levels. Treatment with methylprednisolone and niacin led to decreased levels of xanthine oxidase, malondialdehyde, myeloperoxidase, and caspase-3 and an increase in catalase. Both methylprednisolone and niacin treatments demonstrated improvements in histopathological, ultrastructural, and neurological assessments. Our findings suggest that niacin has antiapoptotic, anti-inflammatory, antioxidant, and neuroprotective effects at least equal to methylprednisolone in ischemia/reperfusion injury of the spinal cord. This study is the first to report the neuroprotective impact of niacin on spinal cord ischemia/reperfusion injury. Further research is warranted to elucidate the role of niacin in this context.

Leveraging Unlabelled Data in Multiple-Instance Learning Problems for Improved Detection of Parkinsonian Tremor in Free-Living Conditions.

Data-driven approaches for remote detection of Parkinson's Disease and its motor symptoms have proliferated in recent years, owing to the potential clinical benefits of early diagnosis. The holy grail of such approaches is the free-living scenario, in which data are collected continuously and unobtrusively during every day life. However, obtaining fine-grained ground-truth and remaining unobtrusive is a contradiction and therefore, the problem is usually addressed via multiple-instance learning. Yet for large scale studies, obtaining even the necessary coarse ground-truth is not trivial, as a complete neurological evaluation is required. In contrast, large scale collection of data without any ground-truth is much easier. Nevertheless, utilizing unlabelled data in a multiple-instance setting is not straightforward, as the topic has received very little research attention. Here we try to fill this gap by introducing a new method for combining semi-supervised with multiple-instance learning. Our approach builds on the Virtual Adversarial Training principle, a state-of-the-art approach for regular semi-supervised learning, which we adapt and modify appropriately for the multiple-instance setting. We first establish the validity of the proposed approach through proof-of-concept experiments on synthetic problems generated from two well-known benchmark datasets. We then move on to the actual task of detecting PD tremor from hand acceleration signals collected in-the-wild, but in the presence of additional completely unlabelled data. We show that by leveraging the unlabelled data of 454 subjects we can achieve large performance gains (up to 9% increase in F1-score) in per-subject tremor detection for a cohort of 45 subjects with known tremor ground-truth. In doing so, we confirm the validity of our approach on a real-world problem where the need for semi-supervised and multiple-instance learning arises naturally.

Detection of Leptomeningeal Carcinomatosis by Cerebrospinal Fluid in a Dog with a Negative MRI

ABSTRACT An 11 yr old female French bulldog was presented for acute onset of seizures and a 2 wk history of disorientation. On physical examination, a nodular mass at the fourth mammary gland level was observed. Neurological evaluation showed obtundation and compulsive behavior. Brain MRI study did not reveal any abnormalities. Cerebrospinal fluid (CSF) collected from the cerebellomedullary cistern showed a marked increase of total nucleated cell count (400 cells/μL). Cytological evaluation identified the presence of a monomorphic round cell population characterized by large cell bodies, a single eccentrical located nucleus with high nuclear:cytoplasmatic ratio, and marked atypia with anisocytosis, anisokaryosis, and multiple nucleoli. Leptomeningeal carcinomatosis (LC) was suspected. The dog was euthanatized for worsening of clinical signs. Post-mortem examination identified an anaplastic mammary carcinoma in the nodular mammary mass. Infiltration by neoplastic cells exhibiting the same morphological features was detected along leptomeninges of the telencephalon and cerebellum associated with cortical and subcortical parenchymal micrometastases. To our knowledge, this is the first case of LC in a dog detected by CSF evaluation but without any MRI abnormalities. This finding emphasizes the usefulness of CSF cytology in patients with suspected LC even in the absence of any MRI identifiable lesions.

An E280K Missense Variant in KCND3/Kv4.3—Case Report and Functional Characterization

A five-year-old girl presented with headache attacks, clumsiness, and a history of transient gait disturbances. She and her father, mother, twin sister, and brother underwent neurological evaluation, neuroimaging, and exome sequencing covering 357 genes associated with movement disorders. Sequencing revealed the new variant KCND3 c.838G&gt;A, p.E280K in the father and sisters, but not in the mother and brother. KCND3 encodes voltage-gated potassium channel D3 (Kv4.3) and mutations have been associated with spinocerebellar ataxia type 19/22 (SCA19/22) and cardiac arrhythmias. SCA19/22 is characterized by ataxia, Parkinsonism, peripheral neuropathy, and sometimes, intellectual disability. Neuroimaging, EEG, and ECG were unremarkable. Mild developmental delay with impaired fluid reasoning was observed in both sisters, but not in the brother. None of the family members demonstrated ataxia or parkinsonism. In Xenopus oocyte electrophysiology experiments, E280K was associated with a rightward shift in the Kv4.3 voltage-activation relationship of 11 mV for WT/E280K and +17 mV for E280K/E280K relative to WT/WT. Steady-state inactivation was similarly right-shifted. Maximal peak current amplitudes were similar for WT/WT, WT/E280K, and E280K/E280K. Our data indicate that Kv4.3 E280K affects channel activation and inactivation and is associated with developmental delay. However, E280K appears to be relatively benign considering it does not result in overt ataxia.

(032) A Large Retroperitoneal Schwannoma Masquerading as Genito-Urinary Syndrome of Menopause

Abstract Introduction Retroperitoneal schwannomas are extremely rare, slow growing, benign, neurogenic tumors. Their diagnosis is challenging and often incidentally found upon evaluation of vague symptoms. Extrinsic compression to nearby organs or nerves may cause pain and paresthesia. Vulvar pain as a presenting symptom of a retroperitoneal schwannoma is reported in the literature in a case with pudendal nerve involvement. Here we present a case report of a patient who presented with vulvar burning and lower urinary tract irritative symptoms which was found to have a large infra-hepatic retroperitoneal schwannoma. Objectives In this report we show case how performing a detailed neurological evaluation and having a good understanding of the vulvar, perineal, and lower extremity dermatomal innervation have assisted in early diagnosis and treatment of a large retroperitoneal schwannoma. Methods A 65-year-old menopausal woman presented to her primary provider for a 3-month-history of worsening vulvar burning sensation associated with urinary burning, frequency, and nocturia. The pain is worse at night and when sitting for more than an hour. The patient endorsed low back pain that radiated like pins down her anterior thighs. The patient underwent evaluation by her referring provider to rule out a urinary tract infections and vaginitis. She was treated with vaginal estrogen tablets with partial relief for a working diagnosis of Urogenital Syndrome of Menopause. Patient was then referred to Gynecology due to inadequate relief. A detailed pelvic examination revealed normal labia majora and minora with no erythema or swelling. The Vestibule, Bartholin and Skene glands were non tender. Q-tip testing provoked burning sensation in the left and right labia minora on the medial and lateral aspect as well as the labia majora. Pelvic Floor evaluation elicited left pelvic floor tenderness and bilateral ischial spine pain concerning for Pudendal neuralgia. Also, noted paresthesia overlying the left lower extremity at the L3 and L4 distribution at the medial thigh (Figure-1) The patient underwent a bilateral pudendal block with total resolution of her vulvar pain for 24 hours and hence, lumbar and pelvic nerve entrapment was suspected. Magnetic Resonance Imaging was requested. Evaluation revealed a 3.3x4.4cm left ovarian mass and uterine fibroids that could potentially explain L2-L5 radiculopathy. The Lumbar MRI noted a cystic mass in the right mid abdomen for which further evaluation with CT scan was recommended. (Image-1). Referral to Surgical Oncology and Gyn oncology was sought. Epithelial ovarian cancer tumor markers were normal. Catecholamine studies were nonrevealing except for unexplained increase in dopamine levels. Results Surgical excision of the retroperitoneal and ovarian tumor revealed a left ovarian Fibroma and Schwannoma with Cystic Degeneration, confirmed with Immuno-peroxidase studies for S100 and SOX10. The patient had an uncomplicated post-operative course and remains asymptomatic with total resolution of her urinary and vulvar burning symptoms. Conclusions This a case report of vulvar and urethral paresthesia caused by an exceedingly rare tumor located high in the retroperitoneum. Diagnosis was aided by detailed history, comprehensive gynecological, and neurodermatomal evaluation. Appropriate imaging and timely referral led to early diagnosis and treatment, resulting in symptom resolution. Disclosure No.

Epilepsy as the symptom of a spinocerebellar ataxia 13 in a patient presenting with a mutation in the KCNC3 gene

BackgroundThe spinocerebellar ataxias (SCAs) refer to a diverse group of neurodegenerative illnesses that vary clinically and genetically. One of the rare subtypes within this group is SCA13, caused by mutations in the KCNC3 gene. Currently, the prevalence of SCA13 remains uncertain, with only a couple of cases being documented in the Chinese population. This study presented a case study of SCA13, where the patient exhibited clinical symptoms of epilepsy and ataxia. The confirmation of the diagnosis was done through Whole Exome Sequncing.Case presentationSince childhood, the seventeen-year-old patient has not been capable of participating in numerous sporting activities and has experienced multiple episodes of unconsciousness within the last two years. The neurological evaluation showed a lack of coordination in the lower limbs. Cerebellar atrophy was detected through brain magnetic resonance imaging (MRI). The patient’s gene detection results showed that they exhibit a heterozygous c.1268G > A mutation in the KCNC3 gene located at chr19:50826942. Antiepileptic treatment was promptly administered to the patient, and as a result, her epileptic seizures were resolved quickly. She has since remained free of seizures. After a one-year follow-up, there was no apparent improvement in the patient’s health status except seizure free, which may have worsened.ConclusionThe case study highlights the importance of actively combining cranial MRI with genetic detection in patients with ataxia of no known cause, particularly in children and young patients, to establish an possibly obvious detection. Patients who are young and have ataxia that is first accompanied by extrapyramidal and epilepsy syndromes should be aware of the potential of having SCA13.

A Systematic Evaluation of Risk Predictors for COVID-19 Sequelae.

Background Multisystem involvement in coronavirus disease 2019 (COVID-19) is known since the beginning of the pandemic, and post-COVID-19 sequelae have often been reported. The term 'long Covid' encompasses these signs and symptoms. The aim of our study was to study different after-effects which patients endured within 12 months after recovery from acute COVID-19 and to study the various risk predictors. Methods This was a longitudinal observational study of a cohort of 146 patients who recovered from COVID-19 illness. Patients were enrolled during the first four weeks of the onset of their illness, and a monthly follow-up assessment was done for six months that included a detailed history of persistent or new symptoms, new illnesses diagnosed, and complete biochemical, pulmonary, cardiac, neurological and psychiatric evaluation, both objective and subjective. A final follow-up was also done at the end of one year of enrolment. Based on the patient's self-reported history and our multi-system assessment, recorded sequelae were classified according to the involved organ system. These were correlated with possible risk predictors and statistically significant associations were established. Results One hundred and twenty subjects out of 146 total subjects qualified for final analysis. Pulmonary sequelae (48/120; 40%) were the most followed by psychiatric (30/120; 25%), neurological (26/120; 21.7%), and opportunistic infections (7/120; 5.8%). A total of 39/120 (32.1%) cases complained of prolonged dyspnoea. Six out of 120 i.e. 5% of study participants had new-onset diabetes. Twenty-six out of 120 (21.7%) had radiological signs of pulmonary fibrosis. Patients with co-morbidities, older age, higher body mass index, and patients with severe disease were found to be at higher risk of developing these sequelae. Poor nutrition, female gender, and hospitalization were predictors of psychiatric sequelae. Diabetes and liberal steroid use during COVID-19 management were predictors of opportunistic fungal infections. Conclusion This study evaluated post-COVID-19 sequalae in-depth both objectively and subjectively. Some specific predictors for specific sequelae were confirmed on statistical correlation. Long-term follow-up of high-risk persons is therefore recommended after the cure of COVID-19.

Influences of motor speech impairments on the presentation of dysphagia in progressive supranuclear palsy

Purpose The purpose of this study was to examine whether differences in motor speech features are related to presentations of dysphagia in progressive supranuclear palsy (PSP) given the sparsity of data examining this relationship. Method Motor speech disorder (MSD) type and severity along with specific swallowing variables were analysed to obtain insights among these relationships in 73 participants with PSP. Result Results revealed that most participants (93%) had dysarthria, with 19% having co-occurring apraxia of speech (AOS). Greater MSD severity was related to more severe pharyngeal phase impairments (95% CI [−0.917, −0.146], p = 0.008). While certain motor speech and swallowing scores varied minimally across participants, incremental changes in these functions were more likely to occur when specific MSD features were present. A trend for participants with spastic dysarthria and/or AOS to exhibit more severe dysphagia was observed. Conclusion This study points to the need for thorough neurological evaluation, with inclusion of speech-language pathology consultation, in the standard of care for PSP. Comprehensive assessment of both motor speech and swallowing functions can inform differential diagnosis and assist patients/families facing decisions regarding modalities for communication and nutrition in the setting of neurodegenerative disease. Additional research may yield greater insights about relevant assessment and intervention considerations in PSP.