Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 19 de 19
Filtrar
1.
Tunis Med ; 102(4): 217-222, 2024 Apr 05.
Artigo em Inglês | MEDLINE | ID: mdl-38746961

RESUMO

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.


Assuntos
AVC Isquêmico , Humanos , Tunísia/epidemiologia , Adulto , Masculino , AVC Isquêmico/epidemiologia , AVC Isquêmico/etiologia , AVC Isquêmico/diagnóstico , Feminino , Pessoa de Meia-Idade , Adulto Jovem , Estudos Retrospectivos , Fatores de Risco , Adolescente , Isquemia Encefálica/epidemiologia , Isquemia Encefálica/etiologia , Isquemia Encefálica/diagnóstico
2.
Pan Afr Med J ; 47: 46, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38681104

RESUMO

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.


Assuntos
Vacinas contra COVID-19 , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica , Adulto , Humanos , Masculino , ChAdOx1 nCoV-19 , COVID-19/prevenção & controle , Vacinas contra COVID-19/efeitos adversos , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/induzido quimicamente , Tunísia
3.
Clin Neurol Neurosurg ; 238: 108165, 2024 03.
Artigo em Inglês | MEDLINE | ID: mdl-38428060

RESUMO

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.


Assuntos
Melatonina , Esclerose Múltipla , Neuralgia , Humanos , Esclerose Múltipla/tratamento farmacológico , Melatonina/farmacologia , Melatonina/uso terapêutico , Equilíbrio Postural/fisiologia , Força Muscular/fisiologia , Fadiga/tratamento farmacológico , Analgésicos , Ingestão de Alimentos
5.
Brain ; 146(4): 1496-1510, 2023 04 19.
Artigo em Inglês | MEDLINE | ID: mdl-36073231

RESUMO

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.


Assuntos
Deficiência Intelectual , Transtornos Parkinsonianos , Animais , Encéfalo/metabolismo , Drosophila melanogaster/genética , Drosophila melanogaster/metabolismo , Deficiência Intelectual/genética , Transtornos Parkinsonianos/genética , Proteína Fosfatase 2/genética , Proteína Fosfatase 2/metabolismo , Fosfoproteínas Fosfatases/metabolismo
6.
Sci Rep ; 12(1): 16425, 2022 09 30.
Artigo em Inglês | MEDLINE | ID: mdl-36180495

RESUMO

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.


Assuntos
Esclerose Múltipla , Bandas Oligoclonais , Biomarcadores , Humanos , Imunoglobulina G/líquido cefalorraquidiano , Cadeias Leves de Imunoglobulina , Cadeias kappa de Imunoglobulina , Bandas Oligoclonais/líquido cefalorraquidiano
8.
Neurophysiol Clin ; 52(1): 81-93, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35058123

RESUMO

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.


Assuntos
Doença de Parkinson , Disautonomias Primárias , Estudos Transversais , Feminino , Frequência Cardíaca , Humanos , Leucina/genética , Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina/genética , Masculino , Mutação , Disautonomias Primárias/complicações
9.
Neurol Sci ; 43(2): 755-761, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34796417

RESUMO

BACKGROUND: Since the SARS-CoV-2 pandemic has started in December 2019, millions of people have been infected all over the world. Vaccination is the most efficient tool to end this pandemic, but vaccine surveillance is necessary to identify side effects. Some studies have shown that neurological complications after COVID-19 vaccination are rare and dominated by demyelinating disease. CASE PRESENTATION: We present a case of a 67-year-old man who presented 7 days following his first dose of Pfizer-BioNTech COVID-19 vaccine a rapidly progressive ascending muscle weakness. The diagnosis of Guillain-Barré syndrome (GBS) was confirmed according to the clinical features, the albumino-cytological dissociation in the cerebrospinal fluid, and the electroneuromyography findings. The workup for all known infections associated with immune-mediated GBS was negative. The patient received treatment with intravenous immunoglobulin. Neurological examination 1 month after discharge showed full recovery and he regained his baseline functional status. CONCLUSIONS: As far as we know, this is the first reported case in Tunisia. Although extremely rare, neurologists should remain vigilant for acute inflammatory demyelinating polyradiculoneuropathy after COVID-19 vaccination.


Assuntos
COVID-19 , Síndrome de Guillain-Barré , Idoso , Vacina BNT162 , Vacinas contra COVID-19 , Síndrome de Guillain-Barré/induzido quimicamente , Humanos , Masculino , SARS-CoV-2
10.
Polymers (Basel) ; 15(1)2022 Dec 21.
Artigo em Inglês | MEDLINE | ID: mdl-36616375

RESUMO

The current energy crisis and waste management problems have compelled people to find alternatives to conventional non-renewable fuels and utilize waste to recover energy. Pyrolysis of plastics, which make up a considerable portion of municipal and industrial waste, has emerged as a feasible resolution to both satisfy our energy needs and mitigate the issue of plastic waste. This study was therefore conducted to find a solution for plastic waste management problems, as well as to find an alternative to mitigate the current energy crisis. Pyrolysis of five of the most commonly used plastics, polyethylene terephthalate (PET), high- and low-density polyethylene (HDPE, LDPE), polypropylene (PP), and polystyrene (PS), was executed in a pyrolytic reactor designed utilizing a cylindrical shaped stainless steel container with pressure and temperature gauges and a condenser to cool down the hydrocarbons produced. The liquid products collected were highly flammable and their chemical properties revealed them as fuel alternatives. Among them, the highest yield of fuel conversion (82%) was observed for HDPE followed by PP, PS, LDPE, PS, and PET (61.8%, 58.0%, 50.0%, and 11.0%, respectively). The calorific values of the products, 46.2, 46.2, 45.9, 42.8 and 42.4 MJ/kg for LPDE, PP, HPDE, PS, and PET, respectively, were comparable to those of diesel and gasoline. Spectroscopic and chromatographic analysis proved the presence of alkanes and alkenes with carbon number ranges of C9-C15, C9-C24, C10-C21, C10-C28, and C9-C17 for PP, PET, HDPE, LDPE, and PS, respectively. If implemented, the study will prove to be beneficial and contribute to mitigating the major energy and environmental issues of developing countries, as well as enhance entrepreneurship opportunities by replicating the process at small-scale and industrial levels.

11.
J Spinal Cord Med ; 44(2): 334-338, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-31013469

RESUMO

CONTEXT: After primary infection, varicella zoster virus (VZV) becomes latent in ganglionic neurons. If immunity declines, VZV is reactivated and can spread to the dermatome depending from this ganglion and in some cases to the spinal cord. Myelopathy is rare and may develop in the absence of skin rash making the diagnosis very difficult. FINDINGS: From 1994 to 2014, we collected five observations of clinically and laboratory confirmed zoster myelopathy. The age of our patients ranged from 14 to 78. They did not have any significant past medical history. Four patients had a history of radicular rash. After 3 weeks (4-45 days), patients presented paraparesis, sensory loss, and sphincter dysfunction. Cerebrospinal fluid (CSF) analysis revealed an elevated protein level (5/5cases) and pleocytosis (2/5 cases). Spinal cord magnetic resonance imaging (MRI) demonstrated T2 hyper intense lesions with swelling and contrast enhancement. The diagnosis was supported by laboratory evidence, including the detection of VZV antibodies in the CSF. All patients received intravenous acyclovir and two patients received IV methylprednisolone. A marked improvement was observed in most of the patients within 2 months. CONCLUSION /CLINICAL RELEVANCE: Based on our patients and on previous reports, we highlight the possibility of the occurrence of VZV myelopathy in immunocompetent subjects. The diagnosis must be evoked even in the absence of typical skin lesions. In this case, spinal cord MRI and virological tests are useful tools for the diagnosis. We also emphasize on the importance of accurate diagnosis to enable the specific treatment and ameliorate the outcome.


Assuntos
Herpes Zoster , Doenças da Medula Espinal , Traumatismos da Medula Espinal , Aciclovir , Herpes Zoster/complicações , Herpes Zoster/diagnóstico , Herpes Zoster/tratamento farmacológico , Herpesvirus Humano 3 , Humanos , Doenças da Medula Espinal/diagnóstico
12.
Pan Afr Med J ; 35: 50, 2020.
Artigo em Francês | MEDLINE | ID: mdl-32537055

RESUMO

INTRODUCTION: cerebrovascular accident (stroke) constitutes a major public health problem due to the number of people affected and to its medical social and economic consequences. This study aims to identify poor vital prognostic factors for survival in patients with acute arterial stroke. METHODS: we conducted a prospective study of patients with symptoms suggestive of stroke at the two University Hospitals of Sfax, Tunisia over a period of 4 months. Patients were followed-up for a period of 1 month. RESULTS: we collected data from 200 patients. After one month of follow-up, mortality was 19.9%. Poor prognostic factors were: male sex, consumption of tobacco, a history of stroke, low Glasgow score, high NIHSS, headaches, acute symptomatic epileptic seizures, Babinski's sign, mydriasis, aphasia, combined deviation of the head and the eyes, high PAS, PAD and PAM, hyperthermia, hyperglycaemia, leukocytosis, high concentration of CRP, creatinine, urea and troponin T, haemorrhagic stroke, perilesional oedema, a mass effect, commitment, total middle cerebral artery topography of ischemia, early signs of ischemia, meningeal hemorrhage, ventricular flood, hydrocephalus, the recourse to respiratory support, to anti-edematous treatment and to antihypertensive therapy, hemorrhagic transformation, vascular epilepsy, infectious, metabolic complications, complications of bed sores. CONCLUSION: the identification of the predictive factors for survival allows for optimisation of therapeutic procedures and better implementation of patient' management. A comparative study will be considered to measure the impact of the corrective measures.


Assuntos
Isquemia Encefálica/mortalidade , Hemorragia Cerebral/mortalidade , Acidente Vascular Cerebral/mortalidade , Idoso , Idoso de 80 Anos ou mais , Isquemia Encefálica/patologia , Hemorragia Cerebral/epidemiologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Prospectivos , Fatores de Risco , Acidente Vascular Cerebral/fisiopatologia , Tunísia
13.
Pan Afr. med. j ; 35(50)2020.
Artigo em Francês | AIM (África) | ID: biblio-1268670

RESUMO

Introduction : l'accident vasculaire cérébral (AVC) constitue un problème majeur de santé publique, tant par le nombre de personnes atteintes, que par ses conséquences médicales, sociales et économiques. L'objectif était de dégager les facteurs de mauvais pronostic vital à la phase aiguë de l'AVC artériel. Méthodes: il s'agit d'une étude prospective durant 4 mois portant sur les patients présentant une symptomatologie évocatrice d'AVC aux deux CHU de Sfax, Tunisie. Le suivi a été de 1 mois. Résultats: nous avons colligé 200 patients. Après un mois de suivi, la mortalité était de 19,9%. Les facteurs de mauvais pronostic vital étaient: le sexe masculin, la consommation de tabac, l'antécédent d'AVC, le score de Glasgow bas, le NIHSS élevé, les céphalées, les crises épileptiques symptomatiques aigues, le signe de Babinski, la mydriase, l'aphasie, la déviation conjuguée de la tête et des yeux, les chiffres élevés de pression artérielle systolique (PAS), pression artérielle diastolique (PAD) et pression artérielle pulmonaire (PAP), l'hyperthermie, l'hyperglycémie, l'hyperleucocytose, l'augmentation des CRP, créatinine, urée et la troponine Tc, la nature hémorragique de l'AVC, l'œdème péri lésionnel, l'effet de masse, l'engagement, la topographie sylvienne totale de l'ischémie, la présence de signes précoces d'ischémie, l'hémorragie méningée, l'inondation ventriculaire, l'hydrocéphalie, le recours à une assistance respiratoire, au traitement anti-œdémateux et antihypertenseur, la transformation hémorragique, l'épilepsie vasculaire, les complications infectieuses, métaboliques et de décubitus. Conclusion: l'identification des facteurs prédictifs du devenir vital permet d'optimiser les procédures thérapeutiques et mieux organiser les filières de prise en charge. Une étude comparative sera envisagée afin de mesurer l'impact des mesures correctives


Assuntos
Prognóstico , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/epidemiologia , Tunísia
14.
Acta Neurol Scand ; 138(5): 425-431, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29989150

RESUMO

OBJECTIVES: The LRRK2-G2019S mutation is the most common cause of Parkinson's disease (PD) in North Africa. G2019S-PD has been described as similar to idiopathic with minor clinical differences. The aim of this study was to determine the G2019S-related phenotype and to investigate gender and gene dosage effects on clinical features of G2019S carriers. PATIENTS AND METHODS: The G2019S mutation was screened in 250 Tunisian patients with PD. Twenty-four patients carrying mutations in other PD genes were excluded. Logistic regression models were used to compare clinical features between the studied groups. RESULTS: G2019S carriers (107 cases) and non-carriers (119 cases) were similar in disease duration, levodopa doses, and gender and phenotype distributions. However, carriers had a younger age at examination, higher level of education, and were more likely to report family history of PD and to develop PD at earlier age (P = 0.017). Adjusted for age, sex, disease duration, levodopa-equivalent dose and educational level, MMSE scores remained significantly higher (adjust P = 0.019) and UPDRS-III scores were lower (adjust P = 0.012) in the G2019S carriers than non-carriers. Demographic characteristics of men and women with G2019S mutation were similar, but men had higher level of education, better cognition (adjust P-value for educational level = 0.042) and less tendency towards depression than females (adjust P = 0.046). Furthermore, PD phenotype did not differ between the homozygous and heterozygous G2019S carriers. CONCLUSION: In this study, G2019S carriers had a more benign phenotype than non-carriers. Cognitive impairment and depression were less common in G2019S male carriers compared with females. In addition, we found that LRRK2 gene dosage does not influence the severity of PD.


Assuntos
Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina/genética , Doença de Parkinson/genética , Adulto , Idoso , Feminino , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Doença de Parkinson/fisiopatologia , Fenótipo
15.
BMC Med Genet ; 18(1): 70, 2017 07 06.
Artigo em Inglês | MEDLINE | ID: mdl-28683740

RESUMO

BACKGROUND: In North African populations, G2019S mutation in LRRK2 gene, encoding for the leucine-rich repeat kinase 2, is the most prevalent mutation linked to familial and sporadic Parkinson's disease (PD). Early detection of G2019S by fast genetic testing is very important to guide PD's diagnosis and support patients and their family caregivers for better management of their life according to disease's evolution. METHODS: In our study, a genetic PD's diagnosis tool was developed for large scale genotyping using Kompetitive Allele Specific PCR (KASP) technology. We investigated G2019S's frequency in 250 Tunisian PD patients and 218 controls. RESULTS: We found that 33.6% of patients and 1.3% of controls were carriers. Demographic characteristics of patients with G2019S had no differences compared with non-carrier patients. Thereby, we could emphasize the implication of G2019S in PD without any distinctive demographic factors in the studied cohort. Sixty patients out of 250 were genotyped using Taqman assay and Sanger sequencing. The genotyping results were found to be concordant with KASP assay. CONCLUSIONS: The G2019S mutation frequency in our cohort was similar to that reported in previous studies. Comparing to Taqman assay and Sanger sequencing, KASP was shown to be a reliable, time and cost effective genotyping assay for routine G2019S screening in genetic testing laboratories.


Assuntos
Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina/genética , Doença de Parkinson/genética , Adulto , Idoso , Estudos de Coortes , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Taxa de Mutação , Reação em Cadeia da Polimerase , Tunísia
16.
J Mov Disord ; 9(2): 120-3, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-27240811

RESUMO

Woodhouse-Sakati syndrome (WSS) is an infrequent autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. This syndrome belongs to a heterogeneous group of inherited neurodegenerative disorders characterized iron accumulation in the brain, and it is caused by mutations of the C2orf37 gene. We report the first Tunisian family with two affected sisters presenting with a phenotype suggestive of WSS. We examined the index patient presenting with movement disorders and mental retardation and then searched for similar cases in her family, which identified a sister with similar signs. We performed a genetic study that confirmed the diagnosis and revealed a c.436delC mutation of the C2orf37 gene. Therefore, WSS is an important consideration in patients presenting with movement disorders and intellectual disability. A high consanguinity contributes to the clustering of such rare autosomal recessive syndromes.

17.
J Med Case Rep ; 10: 99, 2016 Apr 05.
Artigo em Inglês | MEDLINE | ID: mdl-27089874

RESUMO

BACKGROUND: Acute aortic dissection is an extreme emergency that is generally manifested by violent chest pain irradiating to a patient's back and abdomen. Paraplegia due to spinal cord ischemia and infarction as a presenting manifestation of aortic dissection has been found in 2 to 5% of patients. However, painless paraplegia is exceedingly rare and limited to a few case reports in the literature. We describe a new case with this unusual presentation of aortic dissection and here we emphasize that this condition must be considered in all patients with painless paraplegia. CASE PRESENTATION: A 70-year-old Arab man with no previous known medical or surgical conditions was hospitalized for brutal heaviness of his lower limbs associated to urinary retention. A neurological examination revealed flaccid paraplegia without sensory disorder. His blood pressure and his pulse were in normal ranges. He was afebrile. His peripheral pulses were not checked. Laboratory investigations eliminated multiple organ failure. Spinal magnetic resonance imaging realized in emergency was normal. He had a cardiopulmonary arrest 1 day after his hospitalization. His autopsy report concluded a type A aortic dissection with an intimal tear at his aortic isthmus with intrapericardial rupture and extension to his intercostal and lumbar arteries. CONCLUSIONS: Acute aortic dissection is an extreme emergency that can lead to death unless there is an early diagnosis. It must be considered in any patient with paraplegia even painless. Clinical examination has a major role to play in diagnosing this condition. Apart from the neurological examination, palpation of peripheral pulses and blood pressure measurements in all four limbs is of paramount importance. Then further investigations must be carried out consisting of aortic angiography by computed tomography or by magnetic resonance imaging.


Assuntos
Aneurisma da Aorta Abdominal/complicações , Dissecção Aórtica/complicações , Doenças Assintomáticas , Paraplegia/etiologia , Isquemia do Cordão Espinal/etiologia , Idoso , Evolução Fatal , Humanos , Infarto/etiologia , Masculino , Medula Espinal/irrigação sanguínea
18.
J Neurol Sci ; 343(1-2): 110-4, 2014 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-24980939

RESUMO

BACKGROUND: Few epidemiological data are available on multiple sclerosis (MS) patients in North Africa (NA). Studies of immigrants from NA showed a more aggressive course compared to European patients. OBJECTIVE: The aim of this study is to describe clinical and long term course characteristics of MS in Tunisia and to compare it to European cohorts. METHOD: A total of 437 MS patients from three hospital based cohorts in Tunisia and having prospective follow up between 2010 and 2012 were analyzed. We considered as endpoints the time to reach EDSS scores of 3, 4 and 6 in the different clinical forms of MS and the beginning of a secondary progressive (SP) phase. RESULTS: Sex ratio was 2.34. Mean age of onset was 30.3 years. The course was relapsing-remitting (RR) in 91% of patients and primary progressive (PP) in 9%. The most frequent isolated onset symptoms were respectively motor (28%), optic neuritis (20%) and sensory (16%) dysfunction. Median time to SP onset was 19.1 years. Median times from onset of multiple sclerosis to assignment of a score of 3, 4 and 6 were 8, 10.7 and 15 years respectively. Benign form of MS represented 31.5%. Median interval from the onset of the disease to EDSS score of 3, 4 and 6 was shorter in PP-MS than in RR-MS. However, there was no difference between these two groups for the median time from the assignment of EDSS 4 to the assignment EDSS 6. CONCLUSIONS: Our study shows that Tunisian MS patients have a quite similar clinical feature to European patients. Still, larger MS multicenter cohort studies in NA with longer follow-up duration could clearly respond to the issue.


Assuntos
Pessoas com Deficiência , Esclerose Múltipla/epidemiologia , Esclerose Múltipla/fisiopatologia , Adolescente , Adulto , Distribuição por Idade , Criança , Pré-Escolar , Estudos de Coortes , Bases de Dados Factuais/estatística & dados numéricos , Avaliação da Deficiência , Progressão da Doença , Europa (Continente)/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estatísticas não Paramétricas , Fatores de Tempo , Tunísia/epidemiologia , Adulto Jovem
19.
Stroke ; 40(2): 476-81, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19118248

RESUMO

BACKGROUND AND PURPOSE: Isolated lateral sinus thrombosis was long considered a complication of middle ear disease. Little attention has been recently paid to this variety of thrombosis. We therefore reviewed all cases of isolated lateral sinus thrombosis prospectively collected in our center (1997 to 2006). METHODS: Among 195 patients with cerebral venous thrombosis (CVT), we identified 157 patients with lateral sinus thrombosis, including 62 patients with isolated lateral sinus thrombosis. Clinical, etiologic, and prognostic features were compared with those of other 133 CVT cases. RESULT: Sixty-two patients (32%) had isolated lateral sinus thrombosis. Headaches were present in 95% of patients. The main clinical presentation was isolated headache in 28 patients (45%), whereas 15 (24%) had isolated intracranial hypertension. Nineteen patients (31%) had at least one focal sign (deficit and/or focal seizure). Dysphasia was the most common one (8 patients). Compared with the other 133 CVT cases, presentation with isolated headaches was the most frequent one (P<0.001). Parenchymal lesions were found in 19 cases and were less frequent than in other CVT cases (P=0.007). Numerous causes or predisposing factors were identified without a difference in repartition with other patients with CVT, particularly for local or infectious causes. Treatment consisted of anticoagulation in all patients. Clinical outcome was good with complete recovery in 57 patients (92%). One patient died after the occurrence of massive pulmonary emboli despite adequate anticoagulation. Three patients had sequelae (no difference with the other CVT). CONCLUSIONS: Isolated lateral sinus thrombosis is a frequent variety of CVT, accounting for one third of all CVT. It presents in more than two thirds of cases with headache as the only symptom either isolated or less frequently associated with papilledema. This stresses the need for CVT workup in a patient with a recent unexplained headache.


Assuntos
Trombose do Seio Lateral/patologia , Adulto , Anticoagulantes/uso terapêutico , Anticonvulsivantes/uso terapêutico , Feminino , Seguimentos , Cefaleia/complicações , Humanos , Hipertensão Intracraniana/complicações , Trombose Intracraniana/diagnóstico por imagem , Trombose Intracraniana/patologia , Trombose do Seio Lateral/epidemiologia , Trombose do Seio Lateral/terapia , Imageamento por Ressonância Magnética , Masculino , Flebografia , Fatores de Risco , Convulsões/complicações , Fatores Sexuais , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Trombose Venosa/diagnóstico por imagem , Trombose Venosa/patologia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...