Search results for: neurology

Authors: Ecem Deniz Kırkpantur, Ozge Ecmel Onur, Tuba Cimilli Ozturk, Ebru Unal Akoglu

Abstract:

Moyamoya disease is a unique chronic progressive cerebrovascular disease characterized by bilateral stenosis or occlusion of the arteries around the circle of Willis with prominent arterial collateral circulation. The occurrence of Moyamoya disease is related to immune, genetic and other factors. There is no curative treatment for Moyamoya disease. Secondary prevention for patients with symptomatic Moyamoya disease is largely centered on surgical revascularization techniques. We present here a 62-year old male presented with headache and vision loss for 2 days. He was previously diagnosed with hypertension and glaucoma. On physical examination, left eye movements were restricted medially, both eyes were hyperemic and their movements were painful. Other neurological and physical examination were normal. His vital signs and laboratory results were within normal limits. Computed tomography (CT) showed dilated vascular structures around both lateral ventricles and atherosclerotic changes inside the walls of internal carotid artery (ICA). Magnetic resonance imaging (MRI) and angiography (MRA) revealed dilated venous vascular structures around lateral ventricles and hyper-intense gliosis in periventricular white matter. Ischemic gliosis around the lateral ventricles were present in the Digital Subtracted Angiography (DSA). After the neurology, ophthalmology and neurosurgery consultation, the patient was diagnosed with Moyamoya disease, pulse steroid therapy was started for vision loss, and super-selective DSA was planned for further investigation. Moyamoya disease is a rare condition, but it can be an important cause of stroke in both children and adults. It generally affects anterior circulation, but posterior cerebral circulation may also be affected, as well. In the differential diagnosis of acute vision loss, occipital stroke related to Moyamoya disease should be considered. Direct and indirect surgical revascularization surgeries may be used to effectively revascularize affected brain areas, and have been shown to reduce risk of stroke.

Keywords: headache, Moyamoya disease, stroke, visual loss

Procedia PDF Downloads 242

Authors: Simon B. N. Thompson

Abstract:

Early indicator of neurological disease has been proposed by the expanded Thompson Cortisol Hypothesis which suggests that yawning is linked to rises in cortisol levels. Cortisol is essential to the regulation of the immune system and pathological yawning is a symptom of multiple sclerosis (MS). Electromyography activity (EMG) in the jaw muscles typically rises when the muscles are moved – extended or flexed; and yawning has been shown to be highly correlated with cortisol levels in healthy people. It is likely that these elevated cortisol levels are also seen in people with MS. The possible link between EMG in the jaw muscles and rises in saliva cortisol levels during yawning were investigated in a randomized controlled trial of 60 volunteers aged 18-69 years who were exposed to conditions that were designed to elicit the yawning response. Saliva samples were collected at the start and after yawning, or at the end of the presentation of yawning-provoking stimuli, in the absence of a yawn, and EMG data was additionally collected during rest and yawning phases. Hospital Anxiety and Depression Scale, Yawning Susceptibility Scale, General Health Questionnaire, demographic, and health details were collected and the following exclusion criteria were adopted: chronic fatigue, diabetes, fibromyalgia, heart condition, high blood pressure, hormone replacement therapy, multiple sclerosis, and stroke. Significant differences were found between the saliva cortisol samples for the yawners, t (23) = -4.263, p = 0.000, as compared with the non-yawners between rest and post-stimuli, which was non-significant. There were also significant differences between yawners and non-yawners for the EMG potentials with the yawners having higher rest and post-yawning potentials. Significant evidence was found to support the Thompson Cortisol Hypothesis suggesting that rises in cortisol levels are associated with the yawning response. Further research is underway to explore the use of cortisol as a potential diagnostic tool as an assist to the early diagnosis of symptoms related to neurological disorders. Bournemouth University Research & Ethics approval granted: JC28/1/13-KA6/9/13. Professional code of conduct, confidentiality, and safety issues have been addressed and approved in the Ethics submission. Trials identification number: ISRCTN61942768. http://www.controlled-trials.com/isrctn/

Keywords: cortisol, electromyography, neurology, yawning

Procedia PDF Downloads 555

Authors: Margherita Cardellini

Abstract:

To our knowledge, dark skinned children are often victims of discrimination from adults and society, but few studies specifically focus on skin color discrimination on children coming from the same children. Even today, the 'color blind children' ideology is widespread among adults, teachers, and educators and maybe also among scholars, which seem really careful about study expressions of racism in childhood. This social and cultural belief let people think that all the children, because of their age and their brief experience in the world, are disinterested in skin color. Sometimes adults think that children are even incapable of perceiving skin colors and that it could be dangerous to talk about melaninic differences with them because they finally could notice this difference, producing prejudices and racism. Psychology and neurology research projects are showing for many years that even the newborns are already capable of perceiving skin color and ethnic differences by the age of 3 months. Starting from this theoretical framework we conducted a research project to understand if and how primary school children talk about skin colors, picking up any stereotypes or prejudices. Choosing to use the focus group as a methodology to stimulate the group dimension and interaction, several stories about skin color discrimination's episodes within their classroom or school have emerged. Using the photo elicitation technique we chose to stimulate talk about the research object, which is the skin color, asking the children what was ‘the first two things that come into your mind’ when they look the photographs presented during the focus group, which represented dark and light skinned women and men. So, this paper will present some of these stories about episodes of discrimination with an escalation grade of proximity related to the discriminatory act. It will be presented a story of discrimination happened within the school, in an after-school daycare, in the classroom and even episode of discrimination that children tell during the focus groups in the presence of the discriminated child. If it is true that the Declaration of the Right of the Child state that every child should be discrimination free, it’s also true that every adult should protect children from every form of discrimination. How, as adults, can we defend children against discrimination if we cannot admit that even children are potential discrimination’s actors? Without awareness, we risk to devalue these episodes, implicitly confident that the only way to fight against discrimination is to keep her quiet. The right not to be discriminated goes through the right to talk about its own experiences of discrimination and the right to perceive the unfairness of the constant depreciation about skin color or any element of physical diversity. Intercultural education could act as spokesperson for this mission in the belief that difference and plurality could really become elements of potential enrichment for humanity, starting from children.

Keywords: colorism, experiences of discrimination, primary school children, skin color discrimination

Procedia PDF Downloads 168

Authors: V. I. Kozyavkin, L. F. Shestopalova, T. B. Voloshyn

Abstract:

Introduction: Rehabilitation of children with Autism is the issue of the day in psychiatry and neurology. It is attributed to constantly increasing quantity of autistic children - Autistic Spectrum Disorders (ASD) Existing rehabilitation approaches in treatment of children with Autism improve their medico- social and social- psychological adjustment. Experience of treatment for different kinds of Autistic disorders in International Clinic of Rehabilitation (ICR) reveals the necessity of complex intensive approach for healing this malady and wider implementation of a Kozyavkin method for treatment of children with ASD. Methods: 19 children aged from 3 to 14 years were examined. They were diagnosed ‘Autism’ (F84.0) with comorbid neurological pathology (from pyramidal insufficiency to para- and tetraplegia). All patients underwent rehabilitation in ICR during two weeks, where INRS approach was used. INRS included methods like biomechanical correction of the spine, massage, physical therapy, joint mobilization, wax-paraffin applications. They were supplemented by art- therapy, ergotherapy, rhythmical group exercises, computer game therapy, team Olympic games and other methods for improvement of motivation and social integration of the child. Estimation of efficacy was conducted using parent’s questioning and done twice- on the onset of INRS rehabilitation course and two weeks afterward. For efficacy assessment of rehabilitation of autistic children in ICR standardized tool was used, namely Autism Treatment Evaluation Checklist (ATEC). This scale was selected because any rehabilitation approaches for the child with Autism can be assessed using it. Results: Before the onset of INRS treatment mean score according to ATEC scale was 64,75±9,23, it reveals occurrence in examined children severe communication, speech, socialization and behavioral impairments. After the end of the rehabilitation course, the mean score was 56,5±6,7, what indicates positive dynamics in comparison to the onset of rehabilitation. Generally, improvement of psychoemotional state occurred in 90% of cases. Most significant changes occurred in the scope of speech (16,5 before and 14,5 after the treatment), socialization (15.1 before and 12,5 after) and behavior (20,1 before and 17.4 after). Conclusion: As a result of INRS rehabilitation course reduction of autistic symptoms was noted. Particularly improvements in speech were observed (children began to spell out new syllables, words), there was some decrease in signs of destructiveness, quality of contact with the surrounding people improved, new skills of self-service appeared. The prospect of the study is further, according to evidence- based medicine standards, deeper examination of INRS and assessment of its usefulness in treatment for Autism and ASD.

Keywords: intensive neurophysiological rehabilitation system (INRS), international clinic od rehabilitation, ASD, rehabilitation

Procedia PDF Downloads 141

Authors: Jessica Scher Lisa, Eric Shyman

Abstract:

Autism spectrum disorder (ASD) is a neuro-developmental disorder that is characterized by persistent deficits in social communication and social interaction (i.e. deficits in social-emotional reciprocity, nonverbal communicative behaviors, and establishing/maintaining social relationships), as well as by the presence of repetitive behaviors and perseverative areas of interest (i.e. stereotyped or receptive motor movements, use of objects, or speech, rigidity, restricted interests, and hypo or hyperactivity to sensory input or unusual interest in sensory aspects of the environment). Additionally, diagnoses of ASD require the presentation of symptoms in the early developmental period, marked impairments in adaptive functioning, and a lack of explanation by general intellectual impairment or global developmental delay (although these conditions may be co-occurring). Over the past several decades, many theories have been developed in an effort to explain the root cause of ASD in terms of atypical central cognitive processes. The field of neuroscience is increasingly finding structural and functional differences between autistic and neurotypical individuals using neuro-imaging technology. One main area this research has focused upon is in visuospatial processing, with specific attention to the notion of ‘weak central coherence’ (WCC). This paper offers an analysis of findings from selected studies in order to explore research that challenges the ‘deficit’ characterization of a weak central coherence theory as opposed to a ‘superiority’ characterization of strong local coherence. The weak central coherence theory has long been both supported and refuted in the ASD literature and has most recently been increasingly challenged by advances in neuroscience. The selected studies lend evidence to the notion of amplified localized perception rather than deficient global perception. In other words, WCC may represent superiority in ‘local processing’ rather than a deficit in global processing. Additionally, the right hemisphere and the specific area of the extrastriate appear to be key in both the visual and lexicosemantic process. Overactivity in the striate region seems to suggest inaccuracy in semantic language, which lends itself to support for the link between the striate region and the atypical organization of the lexicosemantic system in ASD.

Keywords: autism spectrum disorder, neurology, visual processing, weak coherence

Procedia PDF Downloads 93

Authors: Pellecchia M. T., Savarese G., Carpinelli L., Calabrese M.

Abstract:

Introduction: Parkinson's disease (PD) is characterized by a progressive loss of autonomy which undoubtedly has a significant impact on the quality of life of caregivers, and parents are the main informal caregivers. Caring for a person with PD is associated with an increased risk of psychiatric morbidity and persistent anxiety-depressive distress. The aim of the study is to investigate the burden on caregivers of patients with PD, through the use of multidimensional scales and to identify their personological and environmental determinants. Methods: The study has been approved by the Ethic Committee of the University of Salerno and informed consent for participation to the study was obtained from patients and their caregivers. The study was conducted at the Neurology Department of the A.O.U. "San Giovanni di Dio and Ruggi D’Aragona" of Salerno between September 2020 and May 2021. Materials: The questionnaires used were: a) Caregiver Burden Inventory - CBI a questionnaire of 24 items that allow identifying five sub-categories of burden (objective, psychological, physical, social, emotional); b) Depression Anxiety Stress Scales Short Version - DASS-21 questionnaire consisting of 21 items and valid in examining three distinct but interrelated areas (depression, anxiety and stress); c) Family Strain Questionnaire Short Form - FSQ-SF is a questionnaire of 30 items grouped in areas of increasing psychological risk (OK, R, SR, U); d) Zarit Caregiver Burden Inventory - ZBI, consisting of 22 items based on the analysis of two main factors: personal stress and pressure related to his role; e) Life Satisfaction, a single item that aims to evaluate the degree of life satisfaction in a global way using a 0-100 Likert scale. Findings: N ° 29 caregivers (M age = 55.14, SD = 9.859; 69% F) participated in the study. 20.6% of the sample had severe and severe burden (CBI score = M = 26.31; SD = 22.43) and 13.8% of participants had moderate to severe burden (ZBI). The FSQ-SF highlighted a minority of caregivers who need psychological support, in some cases urgent (Area SR and Area U). The DASS-21 results show a prevalence of stress-related symptoms (M = 10.90, SD = 10.712) compared to anxiety (M = 7.52, SD = 10.752) and depression (M = 8, SD = 10.876). There are significant correlations between some specific variables and mean test scores: retired caregivers report higher ZBI scores (p = 0.423) and lower Life Satisfaction levels (p = -0.460) than working caregivers; years of schooling show a negative linear correlation with the ZBI score (p = -0.491). The T-Test indicates that caregivers of patients with cognitive impairment are at greater risk than those of patients without cognitive impairment. Conclusions: It knows the factors that affect the burden the most would allow for early recognition of risky situations and caregivers who would need adequate support.

Keywords: anxious-depressive axis, caregivers’ burden, Parkinson’ disease, psychological risks

Procedia PDF Downloads 191

Authors: Birendra Kumar Bista, Rhitik Bista, Prafulla Koirala, Lokendra Mandal, Nikrsh Raj Shrestha, Vivek Kattel

Abstract:

Introduction: Poorly controlled diabetes is associated with cause and poor outcome of stroke. High blood sugar reduces cerebral blood flow, increases intracranial pressure, cerebral edema and neuronal death, especially among patients with poorly controlled diabetes.1 SGLT2 inhibitors are associated with 50% reduction in hemorrhagic stroke compared with placebo. SGLT2 inhibitors decrease cardiovascular events via reducing glucose, blood pressure, weight, arteriosclerosis, albuminuria and reduction of atrial fibrillation.2,3 No study has been documented in low income countries to see the role of post stroke SGLT2 inhibitors on diabetic patients at and after ICU admission. Aims: The aim of the study was to measure the 12 months outcome of diabetic patients with acute stroke admitted in ICU set up with naïve SGLT2 inhibitors add on therapy. Method: It was prospective cohort study carried out in a 250 bedded tertiary neurology care hospital at the province capital Biratnagar Nepal. Diabetic patient with acute stroke admitted in ICU from 1st January 2022 to 31st December 2022 who were not under SGLT2 inhibitors were included in the study. These patients were managed as per hospital protocol. Empagliflozin was added to the alternate enrolled patients. Empagliflozin was continued at the time of discharged and during follow up unless contraindicated. These patients were followed up for 12 months. Outcome measured were mortality, morbidity requiring readmission or hospital visit other than regular follow up, SGLT2 inhibitors related adverse events, neuropsychiatry comorbidity, functional status and biochemical parameters. Ethical permission was taken from hospital administration and ethical board. Results: Among 147 diabetic cases 68 were not treated with empagliflozin whereas 67 cases were started the SGLT2 inhibitors. HbA1c level and one year mortality was significantly low among patients on empaglifozin arm. Over a period of 12 months 427 acute stroke patients were admitted in the ICU. Out of them 44% were female, 61% hypertensive, 34% diabetic, 57% dyslipidemia, 26% smoker and with median age of 45 years. Among 427 cases 4% required neurosurgical interventions and 76% had hemorrhagic CVA. The most common reason for ICU admission was GCS<8 (51%). The median ICU stay was 5 days. ICU mortality was 21% whereas 1 year mortality was 41% with most common reason being pneumonia. Empaglifozin related adverse effect was seen in 11% most commonly lower urinary tract infection in 6%. Conclusion: Empagliflozin can safely be started among acute stroke with better Hba1C control and low mortality outcome compared to treatment without SGLT2 inhibitor.

Keywords: diabetes, ICU, mortality, SGLT2 inhibitors, stroke

Procedia PDF Downloads 30

Authors: Tatjana Pekmezovic, Milica Jecmenica-Lukic, Igor Petrovic, Vladimir Kostic

Abstract:

Background: A group of atypical parkinsonian syndromes (APS) includes a variety of rare neurodegenerative disorders characterized by reduced life expectancy, increasing disability, and considerable impact on health-related quality of life (HRQoL). Aim: In this study we wanted to answer two questions: a) which demographic and clinical factors are main contributors of HRQoL in our cohort of patients with APS, and b) how does quality of life of these patients change over 1-year follow-up period. Patients and Methods: We conducted a prospective cohort study in hospital settings. The initial study comprised all consecutive patients who were referred to the Department of Movement Disorders, Clinic of Neurology, Clinical Centre of Serbia, Faculty of Medicine, University of Belgrade (Serbia), from January 31, 2000 to July 31, 2013, with the initial diagnoses of ‘Parkinson’s disease’, ‘parkinsonism’, ‘atypical parkinsonism’ and ‘parkinsonism plus’ during the first 8 months from the appearance of first symptom(s). The patients were afterwards regularly followed in 4-6 month intervals and eventually the diagnoses were established for 46 patients fulfilling the criteria for clinically probable progressive supranuclear palsy (PSP) and 36 patients for probable multiple system atrophy (MSA). The health-related quality of life was assessed by using the SF-36 questionnaire (Serbian translation). Hierarchical multiple regression analysis was conducted to identify predictors of composite scores of SF-36. The importance of changes in quality of life scores of patients with APS between baseline and follow-up time-point were quantified using Wilcoxon Signed Ranks Test. The magnitude of any differences for the quality of life changes was calculated as an effect size (ES). Results: The final models of hierarchical regression analysis showed that apathy measured by the Apathy evaluation scale (AES) score accounted for 59% of the variance in the Physical Health Composite Score of SF-36 and 14% of the variance in the Mental Health Composite Score of SF-36 (p<0.01). The changes in HRQoL were assessed in 52 patients with APS who completed 1-year follow-up period. The analysis of magnitude for changes in HRQoL during one-year follow-up period have shown sustained medium ES (0.50-0.79) for both Physical and Mental health composite scores, total quality of life as well as for the Physical Health, Vitality, Role Emotional and Social Functioning. Conclusion: This study provides insight into new potential predictors of HRQoL and its changes over time in patients with APS. Additionally, identification of both prognostic markers of a poor HRQoL and magnitude of its changes should be considered when developing comprehensive treatment-related strategies and health care programs aimed at improving HRQoL and well-being in patients with APS.

Keywords: atypical parkinsonian syndromes, follow-up study, quality of life, APS

Procedia PDF Downloads 278

Authors: Christina Klippel, Lucia Pezzi, Silvio Neto, Rafael Bertani, Priscila Mendes, Flavio Machado, Aline Szeliga, Maria Cosendey, Adilson Mariz, Raquel Santos, Lys Bendett, Pedro Velasco, Thalita Rolleigh, Bruna Bellote, Daria Coelho, Bruna Martins, Julia Almeida, Juliana Cerqueira

Abstract:

This project presents a framework for teaching intracranial pressure monitoring (ICP) concepts using a low-cost experimental model in a neurointensive care education program. Data concerning ICP monitoring contribute to the patient's clinical assessment and may dictate the course of action of a health team (nursing, medical staff) and influence decisions to determine the appropriate intervention. This study aims to present a safe method for teaching ICP monitoring to medical students in a Simulation Center. Methodology: Medical school teachers, along with students from the 4th year, built an experimental model for teaching ICP measurement. The model consists of a mannequin's head with a plastic bag inside simulating the cerebral ventricle and an inserted ventricular catheter connected to the ICP monitoring system. The bag simulating the ventricle can also be changed for others containing bloody or infected simulated cerebrospinal fluid. On the mannequin's ear, there is a blue point indicating the right place to set the "zero point" for accurate pressure reading. The educational program includes four steps: 1st - Students receive a script on ICP measurement for reading before training; 2nd - Students watch a video about the subject created in the Simulation Center demonstrating each step of the ICP monitoring and the proper care, such as: correct positioning of the patient, anatomical structures to establish the zero point for ICP measurement and a secure range of ICP; 3rd - Students train the procedure in the model. Teachers help students during training; 4th - Student assessment based on a checklist form. Feedback and correction of wrong actions. Results: Students expressed interest in learning ICP monitoring. Tests concerning the hit rate are still being performed. ICP's final results and video will be shown at the event. Conclusion: The study of intracranial pressure measurement based on an experimental model consists of an effective and controlled method of learning and research, more appropriate for teaching neurointensive care practices. Assessment based on a checklist form helps teachers keep track of student learning progress. This project offers medical students a safe method to develop intensive neurological monitoring skills for clinical assessment of patients with neurological disorders.

Keywords: neurology, intracranial pressure, medical education, simulation

Procedia PDF Downloads 139

Authors: Wu Liching

Abstract:

Aim This case aims to discuss the pathogenesis, clinical manifestations and medical treatment of strokes caused by mitochondrial gene mutations. Methods Diagnosis of ischemic stroke caused by mitochondrial gene defect by means of "next-generation sequencing mitochondrial DNA gene variation detection", imaging examination, neurological examination, and medical history; this study took samples from the neurology ward of a medical center in northern Taiwan cases diagnosed with acute cerebral infarction as the research objects. Result This case is a 49-year-old married woman with a rare disease, mitochondrial gene mutation inducing ischemic stroke. She has severe hearing impairment and needs to use hearing aids, and has a history of diabetes. During the patient’s hospitalization, the blood test showed that serum Lactate: 7.72 mmol/L, Lactate (CSF) 5.9 mmol/L. Through the collection of relevant medical history, neurological evaluation showed changes in consciousness and cognition, slow response in language expression, and brain magnetic resonance imaging examination showed subacute bilateral temporal lobe infarction, which was an atypical type of stroke. The lineage DNA gene has m.3243A>G known pathogenic mutation point, and its heteroplasmic level is 24.6%. This pathogenic point is located in MITOMAP and recorded as Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) , Leigh Syndrome and other disease-related pathogenic loci, this mutation is located in ClinVar and recorded as Pathogenic (dbSNP: rs199474657), so it is diagnosed as a case of stroke caused by a rare disease mitochondrial gene mutation. After medical treatment, there was no more seizure during hospitalization. After interventional rehabilitation, the patient's limb weakness, poor language function, and cognitive impairment have all improved significantly. Conclusion Mitochondrial disorders can also be associated with abnormalities in psychological, neurological, cerebral cortical function, and autonomic functions, as well as problems with internal medical diseases. Therefore, the differential diagnoses cover a wide range and are not easy to be diagnosed. After neurological evaluation, medical history collection, imaging and rare disease serological examination, atypical ischemic stroke caused by rare mitochondrial gene mutation was diagnosed. We hope that through this case, the diagnosis of rare disease mitochondrial gene variation leading to cerebral infarction will be more familiar to clinical medical staff, and this case report may help to improve the clinical diagnosis and treatment for patients with similar clinical symptoms in the future.

Keywords: acute stroke, MELAS, lactic acidosis, mitochondrial disorders

Procedia PDF Downloads 44

Authors: Jack Nash, Chris Simpson, Holly Hurn, Ronel Terblanche, Alan Mistlin

Abstract:

There is an increasing incidence of mild traumatic brain injury (mTBI) cases throughout sport and with this, a growing interest from governing bodies to ensure these are managed appropriately and player welfare is prioritised. The Berlin consensus statement on concussion in sport recommends a multidisciplinary approach when managing those patients who do not have full resolution of mTBI symptoms. There are as of yet no standardised guideline to follow in the treatment of complex cases mTBI in athletes. The aim of this project was to analyse the outcomes, both clinical and vocational, of all patients admitted to the mild Traumatic Brain Injury (mTBI) service at the UK’s Defence Military Rehabilitation Centre Headley Court between 1st June 2008 and 1st February 2017, as a result of a sport induced injury, and evaluate potential predictive indicators of outcome. Patients were identified from a database maintained by the mTBI service. Clinical and occupational outcomes were ascertained from medical and occupational employment records, recorded prospectively, at time of discharge from the mTBI service. Outcomes were graded based on the vocational independence scale (VIS) and clinical documentation at discharge. Predictive indicators including referral time, age at time of injury, previous mental health diagnosis and a financial claim in place at time of entry to service were assessed using logistic regression. 45 Patients were treated for sport-related mTBI during this time frame. Clinically 96% of patients had full resolution of their mTBI symptoms after input from the mTBI service. 51% of patients returned to work at their previous vocational level, 4% had ongoing mTBI symptoms, 22% had ongoing physical rehabilitation needs, 11% required mental health input and 11% required further vestibular rehabilitation. Neither age, time to referral, pre-existing mental health condition nor compensation seeking had a significant impact on either vocational or clinical outcome in this population. The vast majority of patients reviewed in the mTBI clinic had persistent symptoms which could not be managed in primary care. A consultant-led, multidisciplinary approach to the diagnosis and management of mTBI has resulted in excellent clinical outcomes in these complex cases. High levels of symptom resolution suggest that this referral and treatment pathway is successful and is a model which could be replicated in other organisations with consultant led input. Further understanding of both predictive and individual factors would allow clinicians to focus treatments on those who are most likely to develop long-term complications following mTBI. A consultant-led, multidisciplinary service ensures a large number of patients will have complete resolution of mTBI symptoms after sport-related mTBI. Further research is now required to ascertain the key predictive indicators of outcome following sport-related mTBI.

Keywords: brain injury, concussion, neurology, rehabilitation, sports injury

Procedia PDF Downloads 128

Authors: Mustafa Cam, Nedim Ongun, Ufuk Kutluana

Abstract:

Introduction: Restless LegsSyndrome (RLS) is a common, under-recognized disorder disrupts sleep and diminishes quality of life (1). The most common conditions highly associated with RLS include renalfailure, iron and folic acid deficiency, peripheral neuropathy, pregnancy, celiacdisease, Crohn’sdiseaseandrarelymalignancy (2).Despite a clear relation between low peripheral iron and increased prevalence and severity of RLS, the prevalence and clinical significance of RLS in iron-deficientanemic populations is unknown (2). We report here a case of RLS due to iron deficiency in the setting of neuroendocrinetumor. Report of Case: A 35 year-old man was referred to our clinic with general weakness, weight loss (10 kg in 2 months)and 2-month history of uncomfortable sensations in his legs with urge to move, partially relieved by movement. The symptoms were presented very day, worsening in the evening; the discomfort forced the patient to getup and walk around at night. RLS was severe, with a score of 22 at the International RLS ratingscale. The patient had no past medical history. The patient underwent a complete set of blood analyses and the following ab normal values were found (normal limitswithinbrackets): hemoglobin 9.9 g/dl (14-18), MCV 70 fL (80-94), ferritin 3,5 ng/mL (13-150). Brain and spinemagnetic resonance imaging was normal. The patient consultated with gastroenterology clinic and gastointestinal systemendoscopy was performed for theetiology of the iron deficiency anemia. After the gastricbiopsy, results allowed us to reach the diagnosis of neuroen docrine tumor and the patient referred to oncology clinic. Discussion: The first important consideration from this case report is that the patient was referred to our clinic because of his severe RLS symptoms dramatically reducing his quality of life. However, our clinical study clearly demonstrated that RLS was not the primary disease. Considering the information available for this patient, we believe that the most likely possibility is that RLS was secondary to iron deficiency, a very well-known and established cause of RLS in theliterature (3,4). Neuroendocrine tumors (NETs) are rare epithelial neoplasms with neuroendocrine differentiation that most commonly originate in the lungs and gastrointestinal tract (5). NETs vary widely in their clinical presentation; symptoms are often nonspecific and can be mistaken for those of other more common conditions (6). 50% of patients with reported disease stage have either regional or distant metastases at diagnosis (7). Accurate and earlier NET diagnosis is the first step in shortening the time to optimal care and improved outcomes for patients (8). The most important message from this case report is that RLS symptoms can sometimes be thesign of a life-threatening condition. Conclusion: Careful and complete collection of clinical and laboratory data should be carried out in RLS patients. Inparticular, if RLS onset coincides with weight loss and iron deficieny anemia, gastricendos copy should be performed. It is known about that malignancy is a rare etiology in RLS patients and to our knowledge; it is the first case with neuro endocrine tumor presenting with RLS.

Keywords: neurology, neuroendocrine tumor, restless legs syndrome, sleep

Procedia PDF Downloads 262

Authors: Raj Chandran, Saul Datwyler, Jaime Marino, Daniel West, Karla Grasso, Adam Buss, Hina Syed, Zina Al Sahouri, Jennifer Yen, Krista Caudle, Beth McQuiston

Abstract:

The Alinity i TBI test is Therapeutic Goods Administration (TGA) registered and is a panel of in vitro diagnostic chemiluminescent microparticle immunoassays for the measurement of glial fibrillary acidic protein (GFAP) and ubiquitin C-terminal hydrolase L1 (UCH-L1) in plasma and serum. The Alinity i TBI performance was evaluated in a multi-center pivotal study to demonstrate the capability to assist in determining the need for a CT scan of the head in adult subjects (age 18+) presenting with suspected mild TBI (traumatic brain injury) with a Glasgow Coma Scale score of 13 to 15. TBI has been recognized as an important cause of death and disability and is a growing public health problem. An estimated 69 million people globally experience a TBI annually1. Blood-based biomarkers such as glial fibrillary acidic protein (GFAP) and ubiquitin C-terminal hydrolase L1 (UCH-L1) have shown utility to predict acute traumatic intracranial injury on head CT scans after TBI. A pivotal study using prospectively collected archived (frozen) plasma specimens was conducted to establish the clinical performance of the TBI test on the Alinity i system. The specimens were originally collected in a prospective, multi-center clinical study. Testing of the specimens was performed at three clinical sites in the United States. Performance characteristics such as detection limits, imprecision, linearity, measuring interval, expected values, and interferences were established following Clinical and Laboratory Standards Institute (CLSI) guidance. Of the 1899 mild TBI subjects, 120 had positive head CT scan results; 116 of the 120 specimens had a positive TBI interpretation (Sensitivity 96.7%; 95% CI: 91.7%, 98.7%). Of the 1779 subjects with negative CT scan results, 713 had a negative TBI interpretation (Specificity 40.1%; 95% CI: 37.8, 42.4). The negative predictive value (NPV) of the test was 99.4% (713/717, 95% CI: 98.6%, 99.8%). The analytical measuring interval (AMI) extends from the limit of quantitation (LoQ) to the upper LoQ and is determined by the range that demonstrates acceptable performance for linearity, imprecision, and bias. The AMI is 6.1 to 42,000 pg/mL for GFAP and 26.3 to 25,000 pg/mL for UCH-L1. Overall, within-laboratory imprecision (20 day) ranged from 3.7 to 5.9% CV for GFAP and 3.0 to 6.0% CV for UCH-L1, when including lot and instrument variances. The Alinity i TBI clinical performance results demonstrated high sensitivity and high NPV, supporting the utility to assist in determining the need for a head CT scan in subjects presenting to the emergency department with suspected mild TBI. The GFAP and UCH-L1 assays show robust analytical performance across a broad concentration range of GFAP and UCH-L1 and may serve as a valuable tool to help evaluate TBI patients across the spectrum of mild to severe injury.

Keywords: biomarker, diagnostic, neurology, TBI

Procedia PDF Downloads 35

Authors: Mathula Thangarajh

Abstract:

Duchenne muscular dystrophy (DMD) is a severe form of X-linked muscular dystrophy caused by mutations in the dystrophin gene resulting in progressive skeletal muscle weakness. Boys with DMD also have significant cognitive disabilities. The intelligence quotient of boys with DMD, compared to peers, is approximately one standard deviation below average. Detailed neuropsychological testing has demonstrated that boys with DMD have a global developmental impairment, with verbal memory and visuospatial skills most significantly affected. Furthermore, the total brain volume and gray matter volume are lower in children with DMD compared to age-matched controls. These results are suggestive of a significant structural and functional compromise to the developing brain as a result of absent dystrophin protein expression. There is also some genetic evidence to suggest that mutations in the 3’ end of the DMD gene are associated with more severe neurocognitive problems. Our working hypothesis is that (i) boys with DMD do not make gains in neurodevelopmental skills compared to typically developing children and (ii) women carriers of DMD mutations may have subclinical cognitive deficits. We also hypothesize that there may be an intergenerational vulnerability of cognition, with boys of DMD-carrier mothers being more affected cognitively than boys of non-DMD-carrier mothers. The objectives of this study are: 1. Assess the neurodevelopment in boys with DMD at 4-time points and perform baseline neuroradiological assessment, 2. Assess cognition in biological mothers of DMD participants at baseline, 3. Assess possible correlation between DMD mutation and cognitive measures. This study also explores functional brain abnormalities in people with DMD by exploring how regional and global connectivity of the brain underlies executive function deficits in DMD. Such research can contribute to a better holistic understanding of the cognition alterations due to DMD and could potentially allow clinicians to create better-tailored treatment plans for the DMD population. There are four study visits for each participant (baseline, 2-4 weeks, 1 year, 18 months). At each visit, the participant completes the NIH Toolbox Cognition Battery, a validated psychometric measure that is recommended by NIH Common Data Elements for use in DMD. Visits 1, 3, and 4 also involve the administration of the BRIEF-2, ABAS-3, PROMIS/NeuroQoL, PedsQL Neuromuscular module 3.0, Draw a Clock Test, and an optional fMRI scan with the N-back matching task. We expect to enroll 52 children with DMD, 52 mothers of children with DMD, and 30 healthy control boys. This study began in 2020 during the height of the COVID-19 pandemic. Due to this, there were subsequent delays in recruitment because of travel restrictions. However, we have persevered and continued to recruit new participants for the study. We partnered with the Muscular Dystrophy Association (MDA) and helped advertise the study to interested families. Since then, we have had families from across the country contact us about their interest in the study. We plan to continue to enroll a diverse population of DMD participants to contribute toward a better understanding of Duchenne Muscular Dystrophy.

Keywords: neurology, Duchenne muscular dystrophy, muscular dystrophy, cognition, neurodevelopment, x-linked disorder, DMD, DMD gene

Procedia PDF Downloads 71

Authors: Gagandeep Singh Digra, Pawan Kumar, Mandeep Kaur Sidhu

Abstract:

INTRODUCTION: Chronic Progressive External Ophthalmoplegia (CPEO), also known as Progressive External Ophthalmoplegia (PEO), is a type of eye disorder characterized by a loss of the muscle functions involved in eye and eyelid movement. CPEO can be caused by mutations in mitochondrial DNA. It typically manifests in young adults with bilateral and progressive ptosis as the most common presentation but can also present with difficulty swallowing (dysphagia) and general weakness of the skeletal muscles (myopathy), particularly in the neck, arms, or legs. CASE PRESENTATION: This is a case discussion of 3 cousins who presented to our clinic. A 23-year-old male with past surgical history (PSH) of ptosis repair 2 years ago presented with a chief complaint of nasal intonation for 1.5 years associated with difficulty swallowing. The patient also complained of nasal regurgitation of liquids. He denied any headaches, fever, seizures, weakness of arms or legs, urinary complaints or changes in bowel habits. Physical Examination was positive for facial muscle weakness, including an inability to lift eyebrows (Frontalis), inability to close eyes tightly (Orbicularis Oculi), corneal reflex absent bilaterally, difficulty clenching jaw (Masseter muscle), difficulty smiling (Zygomaticus major), inability to elevate upper lip (Zygomaticus minor). Another cousin of the first patient, a 25-year-old male with no past medical history, presented with complaints of nasal intonation for 2 years associated with difficulty swallowing. He denied a history of nasal regurgitation, headaches, fever, seizures, weakness, urinary complaints or changes in bowel habits. Physical Examination showed facial muscle weakness of the Frontalis muscle, Orbicularis Oculi muscle, Masseter Muscle, Zygomaticus Major, Zygomaticus Minor and absent corneal reflexes. A 28-year-old male, a cousin of the first two patients, presented with chief complaints of ptosis and nasal intonation for the last 8 years. He also complained of difficulty swallowing and nasal regurgitation of liquids. His physical examination showed facial muscle weakness, including frontalis muscle (inability to lift eyebrows), Orbicularis Oculi (inability to close eyes tightly), absent corneal reflexes bilaterally, Zygomaticus Major (difficulty smiling), and Zygomaticus Minor (inability to elevate upper lip). MRI brain and visual field of all the patients were normal. Differential diagnoses, including Grave’s disease, Myasthenia Gravis and Glioma, were ruled out. Due to financial reasons, muscle biopsy could not be pursued. Pedigree analysis revealed only males were affected, likely due to maternal inheritance, so the clinical diagnosis of CPEO was made. The patients underwent symptomatic management, including ptosis surgical correction for the third patient. CONCLUSION: Chronic Progressive External Ophthalmoplegia (CPEO), a rare case entity, occurs in young adults as a manifestation of mitochondrial myopathy. There are three modes of transmission- maternal transmission associated with mitochondrial point mutations, autosomal recessive, and autosomal dominant. CPEO can sometimes be difficult to diagnose, especially in asymmetric presentation. Therefore, it is crucial to keep it in differential diagnosis to avoid delay in diagnosis.

Keywords: neurology, chronic, progressive, ophthalmoplegia

Procedia PDF Downloads 65