Relationship between homocysteine, vitamin B9, vitamin B12 levels methylenetetrahydrofolate reductase (C677T, A1298C) polymorphisms, and cryptogenic stroke in Tunisian adults´ patients: a case-control study.

Introduction: the relationship between elevated plasma homocysteine (Hcy) and stroke has been established, but this association remains indistinct in cryptogenic stroke in adults. Our aim is to investigate the association between homocysteine, vitamins B9 and B12, and cryptogenic stroke. Furthermore, to determine the correlation between methylenetetrahydrofolate reductase (MTHFR) polymorphism and biochemical levels in plasma.

Evaluation of nerve fiber layer and ganglion cell complex changes in patients with migraine using optical coherence tomography.

Purpose: To analyze changes in peripapillary retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC) thickness in migraine patients with and without aura compared to healthy controls and to identify factors influencing the occurrence of these anomalies.

Methods: This is a cross-sectional case-control study including migraine patients and control subjects. All patients and controls underwent a complete ophthalmological examination, RNFL and GCC thickness measurements using a spectral domain-OCT device.

Evaluation of retinal perfusion density and foveal avascular zone in migraine subjects with and without aura.

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).

Intramedullary spinal cord metastasis from breast cancer: an ambiguous entity.

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.

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.

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 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.

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.

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.

Extraction, characterization and controlled release application of pectin-like/chitosan hydrogels system loaded Ciprofloxacin.

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).

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.

Smoldering multiple myeloma revealed by superior ophthalmic vein thrombosis.

Superior ophthalmic vein thrombosis is a rare entity. It is associated with significant morbidities. It may present with dramatic clinical signs.

MTHFR (C677T, A1298C), FV Leiden polymorphisms, and the prothrombin G20210A mutation in arterial ischemic stroke among young tunisian adults.

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.

Novel splicing dysferlin mutation causing myopathy with intra-familial heterogeneity.

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.

[Five-word test calibration in a Tunisian population of healthy subjects].

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.

Partial characterization and antitumor activity of a polysaccharide isolated from watermelon rinds.

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.

Vertebral solitary bone plasmacytoma in a young adult with Trisomy 21: A case report.

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. Solitary bone plasmacytoma (SBP) is a rare primary bone tumor.

Optimization of polysaccharides extraction from quince peels: partial characterization, antioxidant and antiproliferative properties.

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.

Rank-Two NMF Clustering for Glioblastoma Characterization.

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 from every MRI slice in every segmentation process' step.

A Novel SYNJ1 Mutation in a Tunisian Family with Juvenile Parkinson's Disease Associated with Epilepsy.

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.

Characterization of polysaccharides from Prunus amygdalus peels: Antioxidant and antiproliferative activities.

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 intrathecal polyspecific antiviral immune response (MRZ reaction): A potential cerebrospinal fluid marker for multiple sclerosis diagnosis.

We tested the performance of MRZ-reaction, an intrathecal humoral immune response against-Measles (M), Rubella (R) and Varicella Zoster (Z) viruses, in multiple sclerosis (MS) diagnosis. The MRZ-reaction was significantly more positive in MS than in non-MS group with a specificity of 91.9%.