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Migraine, classified as a neurovascular disease, has been identified as a potential risk factor for ocular vascular complications. Our study aimed to compare retinal vessel density and perfusion density between subjects with migraine and healthy subjects using optical coherence tomography angiography (OCTA). In this cross-sectional case-control study, we enrolled 30 migraine subjects with aura (MWA), 30 migraine subjects without aura (MWOA) and 30 age and gender-matched healthy controls (HC). The foveal avascular zone (FAZ) in superficial capillary plexus (SCP), Vessel density (VD) and perfusion density (PD) in SCP and deep capillary plexus (DCP) were assessed in a 3 × 3 mm scan of the macula with the swept source OCT. Results indicated that the FAZ of MWA and MWOA subjects was significantly larger from HC. Also, FAZ of MWA was larger from MWOA. VD and PD in both SCP and DCP were significantly reduced in both MWA and MWOA groups compared to HC. However, VD and PD did not show significant differences among MWA and MWOA. Additionally, the duration of disease was the main determinant of the FAZ. In conclusion, the FAZ in the SCP, VD and PD in the SCP and DCP of the macula were affected in both MWA and MWOA. FAZ, specifically, was increased with the evolution of the disease. These findings might contribute to an increased risk of ocular vascular complications among subjects with migraine and could potentially use OCTA as a biomarker for this population.
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Fóvea Central , Migraña con Aura , Migraña sin Aura , Vasos Retinianos , Tomografía de Coherencia Óptica , Humanos , Femenino , Masculino , Adulto , Estudios Transversales , Tomografía de Coherencia Óptica/métodos , Fóvea Central/irrigación sanguínea , Fóvea Central/diagnóstico por imagen , Fóvea Central/patología , Vasos Retinianos/diagnóstico por imagen , Vasos Retinianos/patología , Estudios de Casos y Controles , Migraña con Aura/diagnóstico por imagen , Migraña con Aura/fisiopatología , Migraña sin Aura/diagnóstico por imagen , Migraña sin Aura/fisiopatología , Persona de Mediana Edad , Adulto JovenRESUMEN
Intramedullary spinal cord metastasis (IMSC) from solid tumors is rare. In this report, we describe the case of a patient treated at our center for breast cancer with intramedullary spinal cord metastases without bone and brain metastases or meningitis. Management of the disease remains challenging even with recent advances in the treatment of metastatic breast cancer. Treatment options include surgery, radiotherapy and chemotherapy. The prognosis of these patients still very poor.
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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.
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Encefalitis Antirreceptor N-Metil-D-Aspartato , Esclerosis Múltiple , Enfermedades Neurodegenerativas , Humanos , Relevancia Clínica , Inmunoglobulina G/líquido cefalorraquídeo , Bandas Oligoclonales/líquido cefalorraquídeo , Pruebas InmunológicasRESUMEN
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.
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INTRODUCTION: In recent decades, drug delivery applications have extensively utilized hydrogel systems based on natural polymers. Among the numerous biopolymer-based hydrogel drug delivery systems reported, a novel pectin-like substance was extracted from fig leaves and copolymerized with chitosan. METHOD: The hydrogel was reformed into microspheres using glutaraldehyde (chemical cross-linker) and sodium hexametaphosphate (physical cross-linker). The extracted polysaccharide and the prepared hydrogels were characterized by FTIR, GC/MS, SEC/MALS/DRI as well as XRD, SEM, BET, and thermal analysis. SEM images revealed the formation of porous microspheres with an average size of 50 µm in diameter. Degrees of swelling in pH7 at 35°C have shown the hydrogels reached two to three times their weights. This has been reflected in their ability to load drugs or any other chemicals. The loading formula shows that hydrogels have maximum loading efficiency more than one-third of the weight of hydrogel. The antimicrobial ciprofloxacin was used as a model for loading on prepared hydrogels. The loaded hydrogels were tested for their biological activities against staphylococcus aureus (S. aureus) bacteria. The antimicrobial growth inhibition zone of the cultured (S. aureus) by ciprofloxacin-loaded hydrogel was followed, which shows controlled growth in inhibition zone sizes and for long time intervals. Results showed that the pectin-chitosan hydrogels exhibited significant antibacterial activity against gram - positive bacteria (S. aureus), with an inhibition zone of 45 mm for (CH-co-FLP)/GLU hydrogel. RESULT: In vitro, the ciprofloxacin-loaded hydrogels were studied and the cumulative release of ciprofloxacin under suitable conditions was found in a controlled manner and kept release for a long time interval. Data exhibited that the cumulative release profile of ciprofloxacin from the hydrogel demonstrated sustained release over 48 hours, with a value of 6.9% released within the first 24 hours and 7.0 and 6.9% % released at the end of the study for the (CH-co-FLP)/GLU and (CH-co-FLP)/SMP hydrogels, respectively. CONCLUSION: The novel pectin-chitosan hydrogels hold the potential to enhance the quality of life for numerous patients by minimizing the need for frequent intake of chronic medications.
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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.
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Miopatías Distales , Distrofia Muscular de Cinturas , Humanos , Persona de Mediana Edad , Pronóstico , Túnez/epidemiología , Proteínas de la Membrana/genética , Proteínas Musculares/genética , Distrofia Muscular de Cinturas/genética , Distrofia Muscular de Cinturas/metabolismo , Disferlina/genética , Miopatías Distales/genética , Progresión de la Enfermedad , Mutación , Antecedentes GenéticosRESUMEN
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.
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Esclerosis Múltiple , Humanos , Esclerosis Múltiple/diagnóstico por imagen , Esclerosis Múltiple/patología , Imagen por Resonancia Magnética/métodos , Encéfalo , Algoritmos , Cabeza , Aumento de la ImagenRESUMEN
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.
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Distrofia Muscular de Cinturas , Distrofias Musculares , Humanos , Músculo Esquelético/patología , Distrofias Musculares/diagnóstico , Distrofias Musculares/genética , Distrofias Musculares/congénito , Distrofia Muscular de Cinturas/diagnóstico , Distrofia Muscular de Cinturas/genética , Mutación , Pentosiltransferasa/genética , Pentosiltransferasa/metabolismo , Fenotipo , Proteínas/genética , Proteínas/metabolismoAsunto(s)
Isquemia Encefálica , Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Adulto , Isquemia Encefálica/complicaciones , Isquemia Encefálica/diagnóstico , Isquemia Encefálica/genética , Marcadores Genéticos , Humanos , Factores de Riesgo , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/genéticaRESUMEN
BACKGROUND: The involvement of traditional risk factors and combined genetic markers of recurrent arterial ischemic stroke (AIS) in adults remains unclear. OBJECTIVE: This study aims to determine significant clinical and genetic factors of AIS recurrence, and to investigate the combined effect of genotypes on the occurrence of a second cerebral ischemic attack. METHODS: We investigated a cohort study of AIS patients (18-50 years old) followed in the neurology department over 5 years. Traditional and genetic risk factors were carried through a multivariable logistic regression model. We used a Cox proportional hazard model for identifying predictors of recurrence. RESULTS: Two hundred and seventy patients were enrolled in our study. The risk of AIS recurrence was 36.2% within 5 years. The potential risk of recurrence of AIS increased with traditional and genetic risk factors such as hypertension, diabetes mellitus, heart failure, and family history of cerebrovascular diseases. This risk increased with increasing number of genetic factors. The hazard ratio (HR) was 0.66 (95% confidence interval [CI] 0.97-2.67) for the subject with one genetic factor, 1.61 (95% CI 0.97-2.25) for combined methylenetetrahydrofolate reductase (MTHFR) polymorphisms, and 2.57 (95% CI 1.32-4.99) for combined factor V Leiden (FVL) and MTHFR polymorphisms (677 or 1298). The HR for the three polymorphisms combined was 6.04 (95% CI 2.40-15.16). CONCLUSIONS: Our findings suggest that cumulative effect of both traditional and common genetic risk factors was associated with recurrence of ischemic stroke. We demonstrated for the first time that a combined genotype FVL/MTHFR profile increase the risk of a second cerebral ischemic attack.
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Isquemia Encefálica , Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Adolescente , Adulto , Isquemia Encefálica/diagnóstico , Isquemia Encefálica/genética , Estudios de Cohortes , Marcadores Genéticos , Humanos , Persona de Mediana Edad , Recurrencia , Factores de Riesgo , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/genética , Adulto JovenRESUMEN
Arterial ischemic stroke (AIS) in young adults is less common in older adults, but the underlying pathogenesis and risk factors are more multi-faceted. The role of inherited thrombophilia such as 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene polymorphism, (C677T and A1298C), factor V of Leiden (FVL) polymorphism, and the prothrombin G20210A mutations remains unclear. This study aims to evaluate the role of prothrombin genetic factor in AIS among young adults in Tunisia and to assess the synergistic effect between thrombogenic mutations in the pathogenesis of AIS. In this case-control study, blood samples were collected from patients and healthy controls, all matched for age and gender. The difference between them is evaluated by using the chi-square test. The odds ratio (OR) was carried out to evaluate the associations between each polymorphism and AIS risk using a binary logistic regression model. Values were considered statistically significant when p < 0.05. Patients carrying simultaneously the MTHFR polymorphisms (677T and 1298C) have a higher risk to develop AIS compared to controls. The heterozygous variants FVL increased the risk of AIS only when it is associated with MTHFR C677T or MTHFR A1298C polymorphisms. In conclusion, our study confirmed the involvement of MTHFR polymorphisms as AIS's important risk factors. The existence of FVL polymorphism or prothrombin G20210A mutation alone doesn't correlate with the occurrence of stroke. We assume that the presence of both MTHFR and FVL polymorphisms has a synergistic effect and increased the risk of the AIS.
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Factor V/genética , Accidente Cerebrovascular Isquémico/genética , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Mutación , Polimorfismo de Nucleótido Simple , Protrombina/genética , Adolescente , Adulto , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Túnez , Adulto JovenRESUMEN
Dysferlinopathies belong to the heterogeneous group of autosomal recessive muscular disorders, caused by mutations in the dysferlin gene and characterized by a high degree of clinical variability even though within the same family. This study aims to describe three cases, belonging to a consanguineous Tunisian family, sharing a new splicing mutation in the dysferlin gene and presenting intra-familial variability of dysferlinopathies: Proximal-distal weakness and distal myopathy with anterior tibial onset. We performed the next generation sequencing for mutation screening and reverse transcriptase-PCR for gene expression analysis. Routine muscle histology was used for muscle biopsy processing. The clinical presentation demonstrated heterogeneous phenotypes between the three cases: Two presented intermediate phenotypes of dysferlinopathy with proximal-distal weakness and the third had a distal myopathy with anterior tibial onset. Genetic analysis yielded a homozygous splicing mutation (c.4597-2A>G) in the dysferlin gene, giving rise to the suppression of 28 bp of the exon 43. The splicing mutation found in our family (c.4597-2A>G) is responsible for the suppression of 28 bp of the exon 43 and a wide clinical intra-familial variability.
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Disferlina/genética , Enfermedades Musculares/genética , Distrofia Muscular de Cinturas/genética , Femenino , Predisposición Genética a la Enfermedad , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Humanos , Masculino , Persona de Mediana Edad , Enfermedades Musculares/patología , Distrofia Muscular de Cinturas/patología , Mutación , Fenotipo , Empalme del ARNRESUMEN
Superior ophthalmic vein thrombosis is a rare entity. It is associated with significant morbidities. It may present with dramatic clinical signs. It is frequently secondary to cavernous sinus pathology and it can be a harbinger of cavernous sinus thrombosis. We report an unusual case of superior ophthalmic vein thrombosis, as the first manifestation of multiple myeloma. As far as we know, this is the first case described in the literature. Here we describe a patient presented with a painful, visual blur and a right-sided proptosis due to superior ophthalmic vein thrombosis. Appropriate medical workup was conducted, and smoldering multiple myeloma was diagnosed as the underlying cause. We further discuss the possible involved mechanisms.
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In this study, Box-Behnken Design was used to optimize the ultrasonic extraction of polysaccharides from quince peels (QPPs) by ascorbic acid and the effect of extraction temperature, extraction time and pH was evaluated. Under optimized conditions of temperature 90 °C, 60 min sonication time and pH = 3.26, the extraction yield, the galacturonic acid yield and the concentration of sample required to scavenge 50% of 2,2'-azino-bis(3-ethylbenzothiazoline-6-sulphonic) acid (ABTS) values of QPPs were respectively 10.25%, 3.86% and 1.35 mg/mL. The QPPs extracted under optimum conditions was characterized by Fourier transform infrared spectroscopy (FTIR), Nuclear magnetic resonance (1 H NMR) and Size exclusion chromatography (SEC/MALS/VD/DRI). The monosaccharide analysis revealed that arabinose was the most abundant, followed by galactose, glucose, mannose and xylose. Moreover, QPPs showed significant antioxidant activities (2,2-diphenyl-1-picrylhydrazyl (DPPH) and Ferric- reducing antioxidant power (FRAP)) and reduced viability of human Caco-2 and murine B-16 cell lines in a dose-dependent manner. Hence QPPs could be used as antitumor agent in functional foods andpharmaceutical industries.
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Antineoplásicos Fitogénicos/farmacología , Antioxidantes/farmacología , Polisacáridos/aislamiento & purificación , Polisacáridos/farmacología , Rosaceae/química , Animales , Antineoplásicos Fitogénicos/administración & dosificación , Antioxidantes/química , Células CACO-2 , Supervivencia Celular/efectos de los fármacos , Fraccionamiento Químico , Cromatografía en Gel , Relación Dosis-Respuesta a Droga , Frutas/química , Ácidos Hexurónicos/aislamiento & purificación , Humanos , Concentración de Iones de Hidrógeno , Espectroscopía de Resonancia Magnética , Ratones , Monosacáridos/análisis , Monosacáridos/química , Extractos Vegetales/química , Polisacáridos/química , Espectroscopía Infrarroja por Transformada de Fourier , TemperaturaRESUMEN
Context: Solitary bone plasmacytoma (SBP) are rare lesions, accounting for less than 5% of all plasma cell proliferations. We describe a case of a 21-year-old female with Trisomy 21 presenting with cauda equina compression from an SBP. Findings: Solitary bone plasmacytoma (SBP) is a rare primary bone tumor. It is characterized by monoclonal proliferation of malignant plasma cells localized to a bone segment, without signs of systemic invasion. The vertebral location is the most common. It preferentially affects men during their 5th or 6th decade. Clinical relevance: We report the first association between solitary bone plasmacytoma and Trisomy 21.
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Neoplasias Óseas , Síndrome de Down , Plasmacitoma , Traumatismos de la Médula Espinal , Adulto , Síndrome de Down/complicaciones , Femenino , Humanos , Masculino , Plasmacitoma/complicaciones , Plasmacitoma/diagnóstico , Adulto JovenRESUMEN
INTRODUCTION: Five-word test (5WT) is a memory test to assess the verbal episodic memory. It measures the memory of subjects with memory impairment, in particular within the framework of the diagnosis of Alzheimer's disease, where it is sensitive and specific. The purpose of our study was to evaluate the effect of different sociodemographic parameters on subject's performance, to set standards relevant to Tunisian population and to compare our results to previous studies. METHODS: We report 5WT calibration in 315 normal subjects aged 40 to 90 years (169 men, 146 women), divided into four age groups (40-49,50-59,60-69 and 70 years) having three levels of education (I: primary, II:secondary and III:higher). We calculated the mean score (standard deviation) for the different scores: Total Score (TS), Total Weighted Score (TWS), Delayed Free Recall (DFR), Total Delayed Recall (TDR) and Total Free Recall (TFR). RESULTS: The average age of subjects was 57.29 years (11.02). Performances appeared to be better in youngest and better educated subjects, without any significant difference between the two sexes. Standards were calculated on the basis of age and levels of education. CONCLUSION: Five-word test allows rapid screening of patients in whom complementary neuropsychological assessment is essential for the diagnosis of cognitive disorders.
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Trastornos del Conocimiento/diagnóstico , Trastornos de la Memoria/diagnóstico , Memoria Episódica , Pruebas Neuropsicológicas , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Tamizaje Masivo/métodos , Persona de Mediana Edad , Sensibilidad y Especificidad , TúnezRESUMEN
As a health-beneficial fruit, watermelon is widely consumed by people around the world. However, components responsible for the health benefits are not yet determined. As watermelon contains a large amount of polysaccharides, these carbohydrates might play an important role in the health benefits. In this work, polysaccharide from watermelon rinds (PWR) was extracted by papain digestion, purified and characterized by GC-MS, SEC/MALS/VD/DRI, FTIR and 1D and 2D NMR which revealed the glycosidic linkages, their locations in branches and backbone. The monosaccharide composition revealed that the extracted polysaccharide was composed of galactose (38.26%), arabinose (26.12%), rhamnose (17.86%), mannose (9.94%), xylose (5.10%) and glucose (2.70%) with a percentage of uronic acid of 45%. A combination of CPG and NMR analysis showed that the extracted polysaccharide is arabinogalactan linked to type I rhamnogalacturonan. we notice that the arabinogalactan was formed by â6)-ß-D-Galp-(1â as backbone with short branching of arabinose linked in α 1â¯ââ¯3, rhamnose linked in α 1â¯ââ¯4, mannose linked in ß 1â¯ââ¯6 and galactose branches linked in ß 1â¯ââ¯3. Furthermore, PWR exhibited obvious cytotoxicity ability to human laryngeal carcinoma Hep-2 cells in a dose-and time-dependant manner.
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Antineoplásicos/química , Antineoplásicos/farmacología , Citrullus/química , Polisacáridos/química , Polisacáridos/farmacología , Antineoplásicos/aislamiento & purificación , Línea Celular Tumoral , Humanos , Monosacáridos/análisis , Polisacáridos/aislamiento & purificaciónRESUMEN
This study investigates a novel classification method for 3D multimodal MRI glioblastomas tumor characterization. We formulate our segmentation problem as a linear mixture model (LMM). Thus, we provide a nonnegative matrix M from every MRI slice in every segmentation process' step. This matrix will be used as an input for the first segmentation process to extract the edema region from T2 and FLAIR modalities. After that, in the rest of segmentation processes, we extract the edema region from T1c modality, generate the matrix M, and segment the necrosis, the enhanced tumor, and the nonenhanced tumor regions. In the segmentation process, we apply a rank-two NMF clustering. We have executed our tumor characterization method on BraTS 2015 challenge dataset. Quantitative and qualitative evaluations over the publicly training and testing dataset from the MICCAI 2015 multimodal brain segmentation challenge (BraTS 2015) attested that the proposed algorithm could yield a competitive performance for brain glioblastomas characterization (necrosis, tumor core, and edema) among several competing methods.
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Neoplasias Encefálicas/diagnóstico por imagen , Glioblastoma/diagnóstico por imagen , Interpretación de Imagen Asistida por Computador/métodos , Imagen por Resonancia Magnética/métodos , Algoritmos , Análisis por Conglomerados , HumanosRESUMEN
Mutations in SYNJ1 gene have been described in few families with juvenile atypical Parkinson disease (PD). This gene encodes for "Synaptojanin 1," an enzyme playing a major role in the phosphorylation and the recycling of synaptic vesicles. In this study, we report two siblings, from a consanguineous Tunisian family, presenting juvenile PD. Both siblings developed mild Parkinsonism at 16 and 21 years old respectively. One patient had generalized tonic-clonic seizures since the age of 7 years. There was no evidence of sleep or autonomic dysfunctions and psychiatric disorders in both cases, but they developed a moderate cognitive impairment. They kept a good respond to low doses of levodopa treatment with no dyskinesia or motor fluctuations. We designed an NGS-based screening of 22 currently most prevalent parkinsonism-associated genes. Genetic study revealed a novel compound heterozygous mutation (p.Leu1406Phefs*42 and p.Lys1321Glu) in SYNJ1 gene. The p.Lys1321Glu mutation is located in the proline-rich domain and leads to a significant change in the 3D structure of the protein (RMS = 12.58 Å). The p.Leu1406Phefs*42 mutation disrupt the AP2 binding sites and subsequently disable synaptic and vesicle endocytic recycling in neurons. This is the first report of mutation in the C-terminal domain of Synaptojanin 1 protein causing mild juvenile PD with generalized seizures, cognitive impairment, and good respond to levodopa treatment.
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Epilepsia/genética , Mutación Missense , Enfermedad de Parkinson/genética , Monoéster Fosfórico Hidrolasas/genética , Sitios de Unión , Epilepsia/complicaciones , Epilepsia/patología , Femenino , Humanos , Masculino , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/patología , Linaje , Monoéster Fosfórico Hidrolasas/química , Adulto JovenRESUMEN
Prunus amygdalus is used in the folk medicine that proved the interest of this plant which cures many diseases. Many researchers are interested to valorize almond waste (hull and shell) and to evaluate their biological and pharmacological activities. In this work, polysaccharides from Prunus amygdalus shell were extracted sequentially by water, ammonium oxalate and hydrochloric acid. The monosaccharide composition of polysaccharides fractions was performed by GC-MS. Water-soluble polysaccharide was found to be the most effective extracting agent with an extracted yield of 9%. The acid Soluble Polysaccharides (ASP) exhibited the highest galacturonic acid content (31.95%), the highest polysaccharides extractability (88.57%) and the lowest degree of esterification (31.76%). The different polysaccharides fractions were characterized by FTIR, 1H NMR and SEC/MALS/VD/DRI. The antioxidant tests (DPPH, ABTS and FRAP) indicated that ASP showed even better antioxidant activities. Moreover, the result of the antiproliferative activity against Caco-2 and B-16 cells showed that ASP exhibited strong cytotoxicity ability which confirmed that the Prunus amygdalus peels may comprise the natural raw materials for new drug and functional food.