Molecular prevalence of bovine noroviruses and neboviruses detected in central-eastern Tunisia

Two genetically distinct bovine enteric caliciviruses are known: noroviruses of genogroup III (NoVsGIII), which are genetically related to human noroviruses, and neboviruses, which represent a new calicivirus genus. To investigate the presence of NoVsGIII and nebovirus strains in diarrheic calves in Tunisia, a total of 169 faecal specimens were collected from January 2006 to October 2010 from different cattle herds located in the central-east regions. RT-PCRs and sequencing were carried out using primers targeting the 3' end of the polymerase gene of NoVsGIII and neboviruses. This study revealed that NoVsGIII and nebovirus are endemic in diarrheic calves in Tunisia. NoVsGIII infections, all with genotype 2, had an apparent molecular prevalence of 16.6 % and were more frequent than nebovirus infections. NoVsGIII infections showed clear seasonality, with a peak in winter. Nebovirus infections, with a prevalence of 3.0 %, were all related to the reference strain Bo/Nebraska/80/US.     

DNA methylation episignature in Gabriele-de Vries syndrome

PurposeGabriele-de Vries syndrome (GADEVS) is a rare genetic disorder characterized by developmental delay and/or intellectual disability, hypotonia, feeding difficulties, and distinct facial features. To refine the phenotype and to better understand the molecular basis of the syndrome, we analyzed clinical data and performed genome-wide DNA methylation analysis of a series of individuals carrying a YY1 variant.MethodsClinical data were collected for 13 individuals not yet reported through an international call for collaboration. DNA was collected for 11 of these individuals and 2 previously reported individuals in an attempt to delineate a specific DNA methylation signature in GADEVS.ResultsPhenotype in most individuals overlapped with the previously described features. We described 1 individual with atypical phenotype, heterozygous for a missense variant in a domain usually not involved in individuals with YY1 pathogenic missense variations. We also described a specific peripheral blood DNA methylation profile associated with YY1 variants.ConclusionWe reported a distinct DNA methylation episignature in GADEVS. We expanded the clinical profile of GADEVS to include thin/sparse hair and cryptorchidism. We also highlighted the utility of DNA methylation episignature analysis for classification of variants of unknown clinical significance.     

Differential involvement of protein synthesis and actin rearrangement in the reacquisition of contextual fear conditioning

Extinction learning is associated with a decline of the conditioned fear response (CR). However, re-exposure to the unconditioned stimulus (US, shock) is associated with the return of the fear response. This study aimed to study the role of protein synthesis and actin rearrangement in the CA1 hippocampal subregion and the basolateral amygdala (BLA) in acquisition and reacquisition of contextual fear conditioning. To that end, we trained rats on contextual fear conditioning and extinction, and on the last extinction training session we reconditioned the animals by re-exposure to the US. Immediately after, rats were microinfused with the protein synthesis inhibitor anisomycin or the actin rearrangement inhibitor cytochalasin D into either the BLA or the CA1. The results of this study show differential involvement of anisomycin and cytochalasin D in the acquisition and reacquisition of contextual fear conditioning. Specifically, while the microinfusion of anisomycin into the BLA or the CA1 immediately after reconditioning of fear did not inhibit the return of fear, the microinfusion of cytochalsin D into either the BLA or the CA1 attenuated fear responses. Interestingly, the initial acquisition of contextual fear memory is dependent on intra-BLA and CA1 protein synthesis and cytoskeletal rearrangement, since the microinfusion of these drugs blocked the formation of long-term fear memory. The results suggest that the two processes of acquisition and reacquisition of fear are not identical and they engage different mechanisms.     

Evaluation of an Arabic version of the non-motor symptoms scale in Parkinson’s disease

Non-motor symptoms (NMS) of Parkinson Disease (PD) are common and can cause severe disability. They are often under-recognized and remain untreated. Tools to evaluate these symptoms in Arabic-speaking patients are still lacking. The objective of this study was to evaluate an Arabic version of the non-motor symptoms scale (NMSS) of PD as an instrument for measuring NMS in Arabic-speaking patients. Sixty-two PD patients clustered around Hoehn & Yahr Stages 2–3 were evaluated by the Arabic version of NMSS. They also underwent a battery of standard psychometric assessment measures that included the scales for outcomes of Parkinson’s disease-autonomic (SCOPA-AUT), the Pittsburgh sleep quality index (PSQI), the Beck depression inventory, the geriatric depression scale (GDS), the mini-mental state examination (MMSE), the visual analogical scale for pain(VAS) and the neuro-psychiatric inventory (NPI). The metric properties of the NMSS were studied as well as its correlation with other standard tests evaluating NMS. The mean NMSS score was 82 ± 56 (skewness 0.88). There were highly significant correlations between the NMSS and the SCOPA-AUT as well as the NMSS and PSQI scores. Significant positive correlations between NMSS and GDS, BECK and VAS were also observed. The sleep/fatigue domain significantly correlated with the PSQI, the cardiovascular/urinary/sexual function/gastrointestinal domains significantly correlated with the SCOPA-AUT, the mood/cognition domain significantly correlated with the GDS and BECK findings. The mean Cronbach’s alpha coefficient was 0.87, showing a satisfactory internal consistency. The Arabic version of NMSS can be considered a comprehensive and reliable measure for non-motor symptoms in Arabic-speaking PD patients.     

Association of the Met-196-Arg Variation of Human Tumor Necrosis Factor Receptor 2 (TNFR2) with Paranoid Schizophrenia

Research has provided strong evidence for oligodendrocyte and myelin-related genes dysfunction in schizophrenia. Several studies have suggested abnormalities in the expression of myelin-related genes including tumor necrosis factor receptor 2 (TNFR2) involved in the neurodegeneration and remyelination. In order to further assess the role of TNFR2 in schizophrenia, we examined a functional bi-allelic polymorphism associated with an impaired NF-KB signaling and cell survival. In the present case/control study, 220 patients with schizophrenia and 176 healthy controls were genotyped by RFLP-PCR for the T/G polymorphism at the position 676 in exon 6 of the TNFR2 gene. We found a trend towards over-representation of TNFR2 676G in the patients compared to the controls (p = 0.19 and 0.09 respectively). Interestingly, when we evaluated the association between this genetic polymorphism and the clinical variables of schizophrenia, our findings indicated that the frequencies of the G/G genotype and the G allele were significantly higher in paranoid (p = 0.014 and p = 0.012 respectively) and adult-onset paranoid (p = 0.004 and p = 0.004 respectively) schizophrenia patient group compared to the controls. The potential association was confirmed by a logistic regression model only for development of the paranoid form of schizophrenia (p = 0.022) indicating a substantially increased risk for paranoid schizophrenia with inheritance of the TNFR2(G) allele. In conclusion, this polymorphism in TNFR2 or a gene in proximity seems to be associated specifically with paranoid schizophrenia, at least in the Tunisian population. A replication of our findings in other and larger populations could be of particular importance to establish TNFR2 as one of the susceptibility genes of paranoid schizophrenia.     

Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of <Emphasis Type="Italic">CACNA1H</Emphasis> and <Emphasis Type="Italic">MAST4</Emphasis> genes

Genetic generalized epilepsies (GGE) (childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME) and epilepsy with generalized tonic-clonic seizures (GTCS)) are mainly determined by genetic factors. Since few mutations were identified in rare families with autosomal dominant GGE, a polygenic inheritance was suspected in most patients. Recent studies on large American or European cohorts of sporadic cases showed that susceptibility genes were numerous although their variants were rare, making their identification difficult. Here, we reported clinical and genetic characteristics of 30 Tunisian GGE families, including 71 GGE patients. The phenotype was close to that in sporadic cases. Nineteen pedigrees had a homogeneous type of GGE (JME-CAE-CGTS), and 11 combined these epileptic syndromes. Rare non-synonymous variants were selected in probands using a targeted panel of 30 candidate genes and their segregation was determined in families. Molecular studies incriminated different genes, mainly CACNA1H and MAST4. The segregation of at least two variants in different genes in some pedigrees was compatible with the hypothesis of an oligogenic inheritance, which was in accordance with the relatively low frequency of consanguineous probands. Since at least 2 susceptibility genes were likely shared by different populations, genetic factors involved in the majority of Tunisian GGE families remain to be discovered. Their identification should be easier in families with a homogeneous type of GGE, in which an intra-familial genetic homogeneity could be suspected.     

Harlequin syndrome: An asymmetric face

Harlequin syndrome corresponds to unilateral dysfunction of the sympathetic system, characterized by flush and unilateral hyperhidrosis associated with hypo or anhidrosis and paleness of the opposite side. It is, usually, idiopathic. Rarely, it may be associated with compressive organic processes, iatrogenic causes, and general diseases. It is a real therapeutic challenge.     

Annular elastolytic giant cell granuloma mimicking cutaneous sarcoidosis

Annular elastolytic giant cell granuloma (AEGCG) is a benign skin disorder, with, unknown cause. It appears as erythematous papules or annular plaques. Few challenging cases of AEGCG have been reported in the literature. We describe a rare clinical presentation of AEGCG mimicking cutaneous sarcoidosis.     

Photodistributed pustular acute febrile neutrophilic dermatosis revealing an acute myeloid leukemia

Sweet syndrome is a rare inflammatory dermatosis that can be associated with various diseases, including leukemias. Physicians should be aware that a photodistributed clinical presentation of a pustular SS may reveal underlying malignancies, particularly hemopathies. If the hemopathy is known, recurrence lesions should be suspected of a relapse.     

Primary adult unilateral thalamic pilocytic astrocytoma with von Recklinghausen's disease mimicking lymphoma: A case report

Thalamic astrocytomas are rare central nervous system tumors that account for 1%-1.5% of all brain tumors. Their Clinical features depend on anatomical involvement. For these tumors, gross total resection is so difficult due to their deep location and also the infiltration of the optic pathway or brain stem. Unilateral adult thalamic locations are rarely described in the literature. Their radiological features often suggest lymphoma. The authors report here a new case of a primary unilateral thalamic pilocytic astrocytoma mimicking lymphoma diagnosed after a stereotactic core biopsy in a 62-year-old male patient with von Recklinghausen''s disease and which is responsible for Dejerine–Roussy syndrome. The authors will proceed with a comprehensive review of literature regarding this rare entity.