Ischemic Stroke in Young Tunisian Adults.

INTRODUCTION: Ischemic Stroke in young adults is a real public health problem; it's a major cause of disability, alters quality of life and has a great socio-economic impact. AIM: determine risk factors and specify the etiology of arterial ischemic stroke in young Tunisian adults. METHODS: In this 5 years retrospective study (2015-2020), we included all young adults (18-50 years) admitted for arterial ischemic stroke (AIS). Risk factors were registered and analyzed. All patients were investigated using a standard protocol: biological tests, brain imaging, carotid ultrasound and cardiac assessment. Additional investigations were carried out at the discretion of the treating physician. The cause of ischemic stroke was classified according to the TOAST criteria. RESULTS: We collected 200 patients with AIS. The mean age was 41.37 years ± 6.99. Traditional vascular risk factors were observed in more than 1/4 patients. A definite cause of stroke was identified in 120 patients. Cardio-embolic causes were the most common among our patients (19%) followed by atherosclerosis of the large arteries (11.5%). Other determined etiologies were found in 27.5% of patients. The etiology remained unclear in 40% of cases: undetermined despite complete investigation in 17.5%, undetermined and incompletely investigated 14.5 % and more than one potential pathomechanisms in 8%. CONCLUSION: Through this study, we demonstrated the diversity of etiology of stroke in young Tunisian adults. Changes of lifestyle are responsible for the occurrence of the traditional risk factors at an early age. Rheumatic heart diseases remain a frequent cause of AIS in our area.

Acute-onset chronic inflammatory demyelinating polyneuropathy following AstraZeneca COVID-19 vaccine: a case report.

COVID-19 vaccination side effects have been increasingly reported, including new-onset autoimmune diseases such as chronic arthritis, thrombocytopenia, Guillain-Barré syndrome (GBS), and more recently chronic inflammatory demyelinating polyneuropathies (CIDP). Molecular mimicry and vaccine adjuvants appear to be important contributors to immune-mediated neuropathies. However, whether the link between the COVID-19 vaccine and these autoimmune disorders is coincidental or causal remains uncertain. We describe the ever-reported case of acute-onset CIDP following the Oxford/AstraZeneca vaccine in Tunisia. The patient is a 41-year-old man who presented with acute, worsening weakness of the four limbs. The symptoms appeared 15 days after his first dose of the AstraZeneca vaccine. The diagnosis of GBS was initially confirmed according to the clinical features, the albumino-cytological dissociation in the cerebrospinal fluid (CSF), and the electroneuromyography (ENMG) findings. Serum workup for all known infections associated with immune-mediated neuropathy was negative. The patient was treated with plasma exchange without initial improvement followed by aggravation of the symptomatology after an interval of four and a half months. Control ENMG showed signs of CIDP meeting the European Academy of Neurology/Peripheral Nerve Society (EAN/PNS) criteria of 2021. The patient was treated with maintenance intravenous immunoglobulin and oral corticosteroids. Neurological examination 3 months after discharge showed partial improvement. Worldwide, cases of demyelinating polyneuropathies post-COVID-19 vaccination are increasingly reported. The acute onset of CIDP might lead to a misdiagnosis of GBS. Awareness of this complication and distinction from GBS enables early relay with maintenance treatment to prevent relapses and severe complications. Post-COVID neuropathies are found to be more frequently linked to the AstraZeneca vaccine, however, temporal association does not confirm causal association.

Effects of a nighttime melatonin ingestion on dynamic postural balance and muscle strength the following morning in people living with multiple sclerosis: A preliminary study.

BACKGROUND: Decreased endogenous melatonin concentrations in people with multiple sclerosis (PwMS) are associated with fatigue and pain that impair postural balance and muscle strength. Melatonin ingestion had analgesic and anti-fatigue effects. However, the acute effect of exogenous melatonin on dynamic postural stability and muscle strength has not been studied yet in PwMS. This study aimed to investigate the safety and the efficacy of a nighttime melatonin intake on dynamic postural balance and lower-extremity muscle strength the following morning in PwMS. METHODS: Fourteen PwMS (28.36 ± 6.81 years) were assessed (8 a.m.) pre- and post-acute intake of melatonin or placebo (6mg, 30 minutes before nocturnal bedtime). Evaluated parameters included dynamic postural balance (force platform), lower-extremity muscle strength [Five-Repetition Sit-To-Stand Test (5-STST)], hand dexterity (Nine-Hole Peg Test), nociceptive pain [Visual Analogue Scale (VAS)], neuropathic pain [Neuropathic Pain 4 Questions (DN4)], sleep quality and fatigue perception [Hooper Index (HI)]. RESULTS: In the frontal plane, melatonin reduced the center of pressure (CoP) path length (CoPL), CoPL in the anteroposterior axis (CoPLY) and CoP sway area (CoPAr) compared with placebo by 7.56% (p=0.02, Cohens'd (d)=1.24), 19.27% (p<0.001, d=2.60) and 13.82% (p<0.001, d=2.02), respectively. Melatonin induced a higher decrease in these posturographic parameters compared with placebo in the sagittal plane [CoPL: 9.10% (p=0.005, d=1.02), CoPLY: 4.29% (p=0.025, d=1.07) and CoPAr: 7.45% (p=0.038, d=0.74)]. Melatonin decreased 5-STST duration as well as VAS, DN4, HI-fatigue and HI-sleep scores compared with placebo by 8.19% (p=0.008, d=1.19), 5.74% (p=0.04, d=0.82), 27.30% (p=0.023, d=0.98), 40.15% (p=0.044, d=0.85) and 30.16% (p=0.012, d=1.10), respectively. CONCLUSION: This preliminary study, among PwMS, showed that acute melatonin ingestion was safe and efficient for improving dynamic postural stability and lower-extremity muscle strength probably through its analgesic and anti-fatigue effects.

Infrequent patterns in cerebrospinal fluid isofocusing test: Clinical significance and contribution of IgG index and Reiber diagram to their interpretation.

Cerebrospinal fluid (CSF) isoelectrofocusing (IEF) is considered as the gold standard for detecting an intrathecal synthesis of IgG, which is a hallmark of multiple sclerosis (MS). This corresponds to the presence of CSF-restricted IgG oligoclonal bands (OCB) (typically type 2 pattern). Moreover, this technique can also detect a systemic immune reaction with passive transfer of IgG (type 3 and 4 patterns) for which the clinical relevance is less understood. The aim of our study was to determine the frequency and disease associations of IEF type 3 and 4 patterns and to investigate the potential usefulness of including quantitative data (IgG index and Reiber Diagram) in interpreting such IEF profiles. Among 544 patients who underwent CSF IEF (Hydragel CSF isofocusing kit, Sebia®, France) in our Laboratory during a six-year-period, those who presented type 3 or 4 patterns were selected. Clinical data and results of other immunological tests were analyzed for 27 patients followed in the Neurological Department. Frequencies of type 3 and type 4 patterns were relatively low (2.3 % and 3.4 % respectively). Among patients with type 3 pattern included in our study (n = 10), 5 were diagnosed with MS. For the 5 other patients, the diagnosis was a clinically isolated syndrome (CIS) (2 cases), a probable auto-immune encephalitis (2 cases) and a possible genetic neurodegenerative disease (1 case). MS patients had an IgG index >0.7 and fell into area 4 of Reiber diagram while non-MS patients had an IgG index <0.7 and fell into area 1, except the last case. Regarding type 4 pattern (n = 17), the diagnoses were as follows: MS (3), CIS (4), Neuromyelitis optica spectrum disorders with positive anti-AQP4 antibodies (3) and anti-NMDAR autoimmune encephalitis (1). The remaining cases had central nervous system impairment related to vascular, metabolic or tumoral etiologies (3) or peripheral nervous system impairment (3). In this group (type 4 pattern), IgG index was <0.7 in 15/17 cases. Interpretation using Reiber diagram showed an abnormal blood-brain barrier for 8/17 patients. Type 3 and 4 IEF patterns are infrequently observed in routine neurology practice. It is important for the diagnostic laboratory professional as well as for the neurologist to understand their clinical relevance. Our findings highlight the contribution of quantitative evaluation of CSF (IgG index, Reiber diagram) for the interpretation of such situations. Despite the small size of our study population, our results emphasize the importance of reporting the exact type of IEF pattern and not only the positivity or not of OCB.

Vitamin D deficiency in relation with the systemic and central inflammation during multiple sclerosis.

Background: During the last decade, vitamin D (VitD) has become a topic of interest in immune regulation, especially in multiple sclerosis (MS) disease. Amongst the wide range of effects reported for this vitamin on the immune system, a regulatory role on cytokines production has been described. Our aim is to analyze the status of VitD and its correlation with the circulating inflammation and the intrathecal humoral response during MS. Methods: We analyzed samples of 318 individuals: 108 MS patients and 210 controls. Determination of 25-(OH) VitD3 level in serum was made using electrochemiluminescence method. Circulating inflammatory cytokines (IL-6, IL-8, IL-10, TNF-a, IL12p70 and IL-1b) were investigated using Cytometer Bead Array Technology. The central humoral response was characterized using CSF isofocusing test and IgG Index calculation. Results: As expected, mean value of VitD was significantly lower in MS group (26 nmol/L) than in control group (34.75 nmol/L) (p=0.002), with a severe deficiency in 67% of MS patients. Mean value of VitD was significantly lower in MS female patients. Regarding cytokines, mean value of TNFa was significantly higher in MS patients with oligoclonal bands of IgG in the CSF. IL6 was positively correlated with IgG level in serum of MS patients. Conclusions: Our results support the association of VitD deficiency with MS, especially in female patients of our region. However, the vitamin level seems to not correlate with inflammatory cytokines nor with disability. Interestingly, TNFa and IL6 levels were correlated with the intrathecal synthesis of IgG and the circulating IgG level, respectively.

Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile.

Dysferlinopathy is a rare group of hereditary muscular dystrophy with an autosomal recessive mode of inheritance caused by a mutation in the DYSF gene. It encodes for the dysferlin protein, which has a crucial role in multiple cellular processes, including muscle fiber membrane repair. This deficit has heterogeneous clinical presentations. In this study, we collected 20 Tunisian patients with a sex ratio of 1 and a median age of 50.5 years old (Interquartile range (IQR) = [36,5-54,75]). They were followed for periods ranging from 5 to 48 years. The median age at onset was 17 years old (IQR = [16,8-28,4]). Five major phenotypes were identified: Limb-girdle muscular dystrophy (LGMDR2) (35%), a proximodistal phenotype (35%), Miyoshi myopathy (10%),  Distal myopathy with anterior tibial onset (DMAT) (10%), and asymptomatic HyperCKemia (10%). At the last evaluation, more than half of patients (55%) were on wheelchair. Loss of ambulation occurred generally during the fourth decade. After 20 years of disease progression, two patients with a proximodistal phenotype (10%) developed dilated cardiomyopathy and mitral valve regurgitation. Restrictive respiratory syndrome was observed in three patients (DMAT: 1 patient, proximodistal phenotype: 1 patient, LGMDR2: 1 patient). Genetic study disclosed five mutations. We observed clinical heterogeneity between families and even within the same family. Disease progression was mainly slow to intermediate regardless of the phenotype.

Stroke services in MENA: What is there and what is needed.

OBJECTIVES: Stroke represents a health care challenge to most parts of the world including the Middle East and North Africa (MENA) region. The MENA represents 6% of the world population with an age-standardized stroke rate of 87.7 (78.2-97.6) per 100,000 population. This number is subject to increase given that the cause of morbidity has recently shifted from infectious diseases to non-communicable diseases. Thus, in the coming years, treatment of stroke will pose a major burden on MENA countries which mostly lie in the low to middle income economies. Accordingly, we need to study the state of MENA stroke services in order to recognize and further inform policy makers about any gaps that need to be bridged in this domain. METHODS AND RESULTS: Stroke specialists representing 16 countries filled an online survey that included: screening for risk factors, acute management, diagnostics, medications, post-discharge services, and stroke registries. Results showed that 11 countries screen for risk factors, 16 have neuroimaging studies, 15 provide intravenous thrombolysis (IVT), 13 mechanical thrombectomy (MT) while medications for secondary prevention are available in all countries. However, stroke units are not equally available and even absent in 4 countries, and despite the availability of IVT yet, the rate of administration is still low in 6 countries (<5%), and ranges from 5-20% in 7 countries. Stroke registries and training still need to be implemented in most countries. CONCLUSION: Although imaging, revascularization therapies and medications for secondary prevention are available in most MENA countries, yet the rate of revascularization is low, so is the number of stroke units insufficient in some countries. Additionally, registries and structured training are still defective. Further field studies are required for more accurate determination of the status of stroke services in the MENA region.

Classification of BCI Multiclass Motor Imagery Task Based on Artificial Neural Network.

Motor imagery (MI) signals recorded by electroencephalography provide the most practical basis for conceiving brain-computer interfaces (BCI). These interfaces offer a high degree of freedom. This helps people with motor disabilities communicate with the device by tackling a sequence of motor imagery tasks. However, the extracting user-specific features and increasing the accuracy of the classifier remain as difficult tasks in MI-based BCI. In this work, we propose a new method using artificial neural network (ANN) enhancing the performance of the motor imagery classification. Feature extraction techniques, like time domain parameters, band power features, signal power features, and wavelet packet decomposition (WPD), are studied and compared. Four classification algorithms are implemented which are Quadratic Discriminant Analysis, k-Nearest Neighbors, Linear Discriminant Analysis, and proposed ANN architecture. We added Batch Normalization layers to the proposed ANN architecture to improve the learning time and accuracy of the neural network. These layers also alleviate the effect of weight initialization and the addition of a regularization effect on the network. Our proposed method using ANN architecture achieves 0.5545 of kappa and 58.42% of accuracy on the BCI Competition IV-2a dataset. Our results show that the modified ANN method, with frequency and spatial features extracted by WPD and Common Spatial Pattern, respectively, offers a better classification compared to other current methods.

New Contrast Enhancement Method for Multiple Sclerosis Lesion Detection.

Multiple sclerosis (MS) is one of the most serious neurological diseases. It is the most frequent reason of non-traumatic disability among young adults. MS is an autoimmune disease wherein the central nervous system wrongly destructs the myelin sheath surrounding and protecting axons of nerve cells of the brain and the spinal cord which results in presence of lesions called plaques. The damage of myelin sheath alters the normal transmission of nerve flow at the plaques level, consequently, a loss of communication between the brain and other organs. The consequence of this poor transmission of nerve impulses is the occurrence of various neurological symptoms. MS lesions cause mobility, vision, cognitive, and memory disorders. Indeed, early detection of lesions provides an accurate MS diagnosis. Consequently, and with the adequate treatment, clinicians will be able to deal effectively with the disease and reduce the number of relapses. Therefore, the use of magnetic resonance imaging (MRI) is primordial which is proven as the relevant imaging tool for early diagnosis of MS patients. But, low contrast MRI images can hide important objects in the image such lesions. In this paper, we propose a new automated contrast enhancement (CE) method to ameliorate the low contrast of MRI images for a better enhancement of MS lesions. This step is very important as it helps radiologists in confirming their diagnosis. The developed algorithm called BDS is based on Brightness Preserving Dynamic Fuzzy Histogram Equalization (BPDFHE) and Singular Value Decomposition with Discrete Wavelet Transform (SVD-DWT) techniques. BDS is dedicated to improve the low quality of MRI images with preservation of the brightness level and the edge details from degradation and without added artifacts or noise. These features are essential in CE approaches for a better lesion recognition. A modified version of BDS called MBDS is also implemented in the second part of this paper wherein we have proposed a new method for computing the correction factor. Indeed, with the use of the new correction factor, the entropy has been increased and the contrast is greatly enhanced. MBDS is specially dedicated for very low contrast MRI images. The experimental results proved the effectiveness of developed methods in improving low contrast of MRI images with preservation of brightness level and edge information. Moreover, performances of both proposed BDS and MBDS algorithms exceeded conventional CE methods.

PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.

The protein phosphatase 2A complex (PP2A), the major Ser/Thr phosphatase in the brain, is involved in a number of signalling pathways and functions, including the regulation of crucial proteins for neurodegeneration, such as alpha-synuclein, tau and LRRK2. Here, we report the identification of variants in the PTPA/PPP2R4 gene, encoding a major PP2A activator, in two families with early-onset parkinsonism and intellectual disability. We carried out clinical studies and genetic analyses, including genome-wide linkage analysis, whole-exome sequencing, and Sanger sequencing of candidate variants. We next performed functional studies on the disease-associated variants in cultured cells and knock-down of ptpa in Drosophila melanogaster. We first identified a homozygous PTPA variant, c.893T>G (p.Met298Arg), in patients from a South African family with early-onset parkinsonism and intellectual disability. Screening of a large series of additional families yielded a second homozygous variant, c.512C>A (p.Ala171Asp), in a Libyan family with a similar phenotype. Both variants co-segregate with disease in the respective families. The affected subjects display juvenile-onset parkinsonism and intellectual disability. The motor symptoms were responsive to treatment with levodopa and deep brain stimulation of the subthalamic nucleus. In overexpression studies, both the PTPA p.Ala171Asp and p.Met298Arg variants were associated with decreased PTPA RNA stability and decreased PTPA protein levels; the p.Ala171Asp variant additionally displayed decreased PTPA protein stability. Crucially, expression of both variants was associated with decreased PP2A complex levels and impaired PP2A phosphatase activation. PTPA orthologue knock-down in Drosophila neurons induced a significant impairment of locomotion in the climbing test. This defect was age-dependent and fully reversed by L-DOPA treatment. We conclude that bi-allelic missense PTPA variants associated with impaired activation of the PP2A phosphatase cause autosomal recessive early-onset parkinsonism with intellectual disability. Our findings might also provide new insights for understanding the role of the PP2A complex in the pathogenesis of more common forms of neurodegeneration.

Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation.

Fukutin-related protein (FKRP) mutations cause a broad spectrum of muscular dystrophies, from a relatively mild limb-girdle muscular dystrophy type 9 (LGMDR9) to severe congenital muscular dystrophy (CMD). This study aims to report two siblings belonging to a non-consanguineous Tunisian family harboring a novel compound heterozygous FKRP variant and presenting a mild LGDMR9 phenotype. For mutation screening, massive parallel sequencing was performed, followed by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) to validate the existence of the discovered variants. The absence of alpha-dystroglycan was determined by immunohistochemistry. Brain and thigh magnetic resonance imaging (MRI) were performed to detect thigh and brain abnormalities. The two siblings had a late age at onset and clinical examination showed that the pelvic girdles had a predominantly proximal and symmetrical distribution of weakness without cardiac or respiratory involvement. They both had a modified Gardner-Medwin Walton Scale mGMWS grade of 4 and a modified Rankin Scale (mRS) score of 1. The DNA sequencing revealed a novel deletion of exons 2 and 3 in one allele and a missense mutation c.1364C > A, which has been reported to be responsible for congenital muscular dystrophy and mental retardation on the second allele. The simultaneous presence of the two variations in the two cases suggests that the variants segregate with the pathophysiology.

Intrathecal B cell-related markers for an optimized biological investigation of multiple sclerosis patients.

In multiple sclerosis (MS) disease, the importance of the intrathecal B cell response classically revealed as IgG oligoclonal bands (OCB) in cerebrospinal fluid (CSF) was reaffirmed again in the recently revised diagnostic criteria. We aimed to optimize Laboratory investigation by testing the performance of new B cell-related molecules in CSF (Ig free light chains (FLCκ and λ) and CXCL13 (B-Cell Attracting chemokine1)) for MS diagnosis. 320 paired (CSF-serum) samples were collected from 160 patients with MS (n = 82) and non-MS diseases (n = 78). All patients benefited from IgG index determination, OCB detection, CSF CXCL13 and FLC (κ and λ) measurement in CSF and serum for metrics calculation (κ/λ ratio, FLC-related indexes, and κFLC-intrathecal fraction (IF)). CXCL13 and FLC metrics in CSF were higher in patients with MS and positive OCB. As expected, κFLC metrics-in particular, κFLC index and κFLC IF-had the highest accuracy for MS diagnosis. κ index showed the best performance (sensitivity 83% and specificity 91.7%) at a cut-off of 14.9. Most of the FLC-related parameters were positively correlated with IgG index and the level of CXCL13. In conclusion, the quantitative, standardizable, and technically simple CSF FLCκ metrics seem to be reliable for MS diagnosis, but could not replace OCB detection. CXCL13 appears to be an effective parameter reflecting the intrathecal B cell response. An optimized way for CSF testing combining the conventional and the new B cell-related parameters is proposed in this study.

Combined effect of gender differences and fatiguing task on postural balance, functional mobility and fall risk in adults with multiple sclerosis: A preliminary study.

AIM: To investigate the gender difference effect on postural balance, functional mobility, and fall risk after performing a fatiguing task in adults with multiple sclerosis (MS). METHODS: Eleven women (30.91 ± 8.19 years) and seven men (30.29 ± 7.99 years) with relapsing-remitting MS performed a fatiguing task: three sets of the Five-repetition Sit-To-Stand Test (5-STST) were performed before and after the six-minute WalkTest (6MWT). Bipedal postural balance in eyes open and eyes closed conditions were assessed prefatigue (T0) and postfatigue (T3) using a force platform. Unipedal balance, functional mobility (Timed Up and Go Test), fall risk (Four Square Step Test) and fatigue [Visual Analogue Scale of Fatigue (VASF)] were assessed at T0 and T3. Heart rate (HR) and Rating of Perceived Exertion (RPE) were recorded before (only for HR), during and after the fatiguing task. RESULTS: Compared to women, men showed an impairment of posturographic parameters [mean center of pressure (CoP) velocity (CoPVm) in both conditions (p < 0.05); CoP sway area (CoPAr) in both conditions (p < 0.01)], unipedal balance on the dominant leg (p <0.001), mobility (p<0.001) and an increased fall risk (p < 0.05). No gender differences were observed in 6MWT, 5-STST, HR, RPE, and VASF. CONCLUSION: This preliminary study showed that fatiguing task negatively affected postural control, mobility and fall risk only in men. These gender differences were inconclusive but could be taken into account in postural balance rehabilitation programs for MS persons.

Effect of melatonin intake on postural balance, functional mobility and fall risk in persons with multiple sclerosis: a pilot study.

AIM: To assess the safety and the effect of a nocturnal melatonin (MEL) ingestion on postural balance, functional mobility and fall risk the following morning in adults with multiple sclerosis (MS). METHODS: Fourteen adults with relapsing-remitting MS (RR-MS) (28.36 ± 6.81 years) were evaluated before and after nocturnal ingestion of MEL (6 mg) or placebo (PLA). Evaluations included a posturographic test of static bipedal postural balance with dual-task in eyes open (EO) and eyes closed conditions, and a clinical test of unipedal balance. The physical performance tests were: Timed Up and Go test (TUGT) (mobility), Four Square Step Test (FSST) (fall risk), and Timed 25-foot walk test (T25FWT) (walking speed). Cognitive performance [Montreal Cognitive Assessment (MoCA) and Simple Reaction Time (SRT) tests] and sleep quality [Spiegel's sleep questionnaire (SSQ)] were also assessed. RESULTS: In EO condition, MEL decreased the posturographic parameters [center of pressure (CoP) sway area (CoPAr), CoP path length (CoPL) and CoPL in the mediolateral axis (CoPLX)] more than PLA by 15.82% (p = 0.0006), 12.48% (p = 0.0004) and 14.25% (p = 0.0002), respectively. Durations of TUGT and FSST decreased following MEL session more than the PLA one by 14.52% (p = 0.017) and 19.85% (p = 0.0006), respectively. MEL increased the unipedal stance time, SSQ and MoCA scores more than PLA by 49.81% (p = 0.04), 32.21% (p = 0.004) and 11.87% (p = 0.008), respectively. CONCLUSION: This pilot study showed that acute nocturnal MEL ingestion seems to be safe for enhancing postural balance, fun mobility and fall risk in RR-MS adults probably through improving sleep quality and cognitive function.

Papillary thyroid carcinoma associated with glioblastoma in a neurofibromatosis 1 patient: An unusual and rare combination of multiple primary malignancies.

Introduction: and importance: Papillary Thyroid carcinoma (PTC) is the most common endocrine malignancy and accounts for 1-2% of all cancer cases. Second malignancies in women diagnosed with thyroid cancer are of concern given the young average age at diagnosis. The concurrent occurrence of thyroid cancer and malignant brain tumor such as glioblastoma (GBM) was rarely seen and reported. However, the simultaneous association of these 2 conditions, namely PTC and GBM, in a neurofibromatosis type 1 (NF1) patient, has never been reported before in the literature. Case presentation: The authors report the first case of an extremely rare association combining papillary thyroid carcinoma, glioblastoma, and a neurofibromatosis 1 in a 34-year-old female patient with primary generalized tonic-clonic seizures. Clinical discussion: NF1 can be associated with PTC and GBM independently. In this current case, NF1 was accompanied by both PTC and GBM. With the exception of the present case, to our knowledge, there has been no previous case report in the literature in which these 3 entities were associated. The reason for the rarity of this combination of these neoplasms in patients with NF1 remains not clear, but it may be explained by the low incidence of combined occurrence of PTC and GBM. Conclusion: This is the first reported extremely rare coexistence of GBM and PTC in a female NF1 patient. Further genetic investigations could improve our understanding of this combination and change our therapeutic approaches.

Detection of COVID-19 from CT and Chest X-ray Images Using Deep Learning Models.

Coronavirus 2019 (COVID-19) is a highly transmissible and pathogenic virus caused by severe respiratory syndrome coronavirus 2 (SARS-CoV-2), which first appeared in Wuhan, China, and has since spread in the whole world. This pathology has caused a major health crisis in the world. However, the early detection of this anomaly is a key task to minimize their spread. Artificial intelligence is one of the approaches commonly used by researchers to discover the problems it causes and provide solutions. These estimates would help enable health systems to take the necessary steps to diagnose and track cases of COVID. In this review, we intend to offer a novel method of automatic detection of COVID-19 using tomographic images (CT) and radiographic images (Chest X-ray). In order to improve the performance of the detection system for this outbreak, we used two deep learning models: the VGG and ResNet. The results of the experiments show that our proposed models achieved the best accuracy of 99.35 and 96.77% respectively for VGG19 and ResNet50 with all the chest X-ray images.

Validation of the Arabic Version of the Movement Disorder Society-Unified Parkinson's Disease Rating Scale.

BACKGROUND: The Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS) has become the gold standard for evaluating different domains in Parkinson's disease (PD), and it is commonly used in clinical practice, research, and clinical trials. OBJECTIVES: The objectives are to validate the Arabic-translated version of the MDS-UPDRS and to assess its factor structure compared with the English version. METHODS: The study was carried out in three phases: first, the English version of the MDS-UPDRS was translated into Arabic and subsequently back-translated into English by independent translation team; second, cognitive pretesting of selected items was performed; third, the Arabic version was tested in over 400 native Arabic-speaking PD patients. The psychometric properties of the translated version were analyzed using confirmatory factor analysis (CFA) as well as exploratory factor analysis (EFA). RESULTS: The factor structure of the Arabic version was consistent with that of the English version based on the high CFIs for all four parts of the MDS-UPDRS in the CFA (CFI ≥0.90), confirming its suitability for use in Arabic. CONCLUSIONS: The Arabic version of the MDS-UPDRS has good construct validity in Arabic-speaking patients with PD and has been thereby designated as an official MDS-UPDRS version. The data collection methodology among Arabic-speaking countries across two continents of Asia and Africa provides a roadmap for validating additional MDS rating scale initiatives and is strong evidence that underserved regions can be energically mobilized to promote efforts that apply to better clinical care, education, and research for PD. © 2022 International Parkinson and Movement Disorder Society.

Stroke services in Africa: What is there and what is needed.

BACKGROUND: Over the past few years, the incidence and prevalence of stroke has been rising in most African countries and has been reported as one of the leading causes of morbidity and mortality. To study this problem, we need to realize the quality and availability of stroke care services as a priori to improve them. METHODS AND RESULTS: In this study, we investigated the availability of different stroke-related services in 17 countries from different African regions. An online survey was conducted and fulfilled by stroke specialists and included primary prevention, acute management, diagnostic tools, medications, postdischarge services, and stroke registries. The results showed that although medications for secondary prevention are available, yet many other services are lacking in various countries. CONCLUSION: This study displays the deficient aspects of stroke services in African countries as a preliminary step toward active corrective procedures for the improvement of stroke-related health services.

Heart rate variability and sympathetic skin response for the assessment of autonomic dysfunction in leucine-rich repeat kinase 2 associated Parkinson's disease.

OBJECTIVES: We aimed to assess and compare autonomic function in Parkinson's disease (PD) associated with the leucine-rich repeat kinase (LRRK2) G2019S mutation (LRRK2-PD) and non-LRRK2 PD, by the study of heart rate variability (HRV) and sympathetic skin responses (SSR). METHODS: In a cross-sectional three-year study, fifty LRRK2-PD and fifty clinically matched non-LRRK2 PD patients were included. Cardiac parasympathetic functions were assessed using heart rate variation to deep breathing (HR-DB), to the Valsalva maneuver (HR-V) and to standing (HR-S) and the sympathetic autonomic system by sympathetic skin responses (SSR). RESULTS: Neurophysiological, parasympathetic and sympathetic dysautonomia were found in 78%, 69% and 37% of all PD patients respectively. Rates of dysautonomia in the LRRK2-PD and non-LRRK2 PD patient subgroups were 76% vs 80% (p = 0.405) for neurophysiological, 62% vs 76% (p = 0.123) for parasympathetic and 38% vs 36% (p = 0.500) for sympathetic dysautonomia. HR-S was the most frequently altered parameter in both groups, and was significantly associated with the tremor-dominant (TD) motor phenotype of PD in the total cohort (p = 0.004) and in LRRK2-PD (p = 0.015). In LRRK2-PD patients, female gender was associated with parasympathetic dysfunction (p = 0.024), and with altered HR-DB (p = 0.022). Early-onset parkinsonism was also significantly associated with preserved neurophysiological autonomic functions (p = 0.044) in LRRK2-PD. In non-LRRK2 PD patients, male gender was associated with early parasympathetic (p = 0.043) and sympathetic dysfunction (p = 0.007). CONCLUSION: Our study showed a roughly similar neurophysiological autonomic profile in non-LRRK2 PD and LRRK2-PD. The latter had some peculiarities with more marked parasympathetic dysfunction and more altered HR-DB in females, more altered HR-S in the TD-motor phenotype, and preserved autonomic functions in early-onset parkinsonism. These preliminary findings would require further investigations on larger genetically homogeneous cohorts to explore the multiple facets of autonomic dysfunction in PD.