Chorea paralytica: a videotape case with rapid recovery and good long-term outcome

Chorea paralytica (or chorea mollis) is a very rare variant of Sydenham’s chorea, characterized by a profound hypotonia, resulting in severe disability. Given the rarity of this condition, data on its prognosis are lacking. Most reports suggest that the delay from onset to recover total autonomy is long, usually several weeks to months which strongly affects the quality of life of these children. We report a videotape case of a 14-year-old girl, who became rapidly bedridden because of severe generalized chorea paralytica. Her clinical picture was totally improved 7 days only after initiation of an “aggressive” treatment, combining steroid pulse, haloperidol and long-term penicillin G, with no relapse after 4-year follow-up. We believe that the best care of this rare and severe form of Sydenham’s chorea, should combine pathophysiological treatment with corticosteroids, preferably by pulse-therapy, symptomatic antichoreic treatment by neuroleptics, associated with a long-term antibiotic use to reduce recurrence risk.     

Logopenic syndrome in posterior cortical atrophy

Few language disorders have been reported in posterior cortical atrophy (PCA). Furthermore, no study has focused on screening for them and described these language deficits. The goal of this work was to describe linguistic examination of PCA patients and the impact of language disorders on neuropsychological performances compared to patients with other neurodegenerative syndromes and control groups. Linguistic examination of 9 PCA patients was carried out. The neuropsychological performance of the PCA group (16 patients) in the RAPID battery tests was compared with performances of patients with a logopenic variant of primary progressive aphasia (LPPA), patients with Alzheimer’s disease and patients with amnestic mild cognitive impairment, as well as the control group. A “logopenic syndrome” with anomia, fluency impairment, and length-dependent deficit was found in 8/9 PCA patients. A comparison with other neurodegenerative syndromes showed that not only visual disorders but also language and verbal short-term memory disorders, such as those found in LPPA, can explain neuropsychological performances. A “logopenic syndrome” is frequently found in PCA and may be associated with poor performance on other verbally mediated neuropsychological tasks (e.g., verbal memory). Specific logopedic rehabilitation should be offered to these patients.     

Sickle Cell Disease with Double Stroke in a Moroccan Family

The sickle-cell disease is a group of chronic hemolytic diseases which associates three types of injuries: severe anemia, severe infections, and ischemic vaso-occlusive crisis that are secondary to conflicts between small vessels and red blood cells too deformable. Thus, organic various complications may arise. Its prevalence in Europe is estimated to be about 1/150 and reaches15?% in the Mediterranean areas. Clinical manifestations vary widely from one person to another and from one moment to another. In addition to anemia and bacterial infections, vaso-occlusive crisis may manifest by focal ischemia. In the long term, the VOC may compromise the function of a particular tissue or organ. The transmission is autosomal recessive. The sickle-cell diseases are determined by combinations of two abnormal alleles of beta globin gene including at least one which carries the mutation beta 6 glu-val (Hb S). We report the case of a girl aged 11 years, who presented two strokes in the interval of 8 months, which manifested by a complete right hemiplegia and aphasia confirmed by head CT scan; the electrophoresis of the hemoglobin and the molecular test had confirmed the diagnosis of sickle-cell disease, and we were allowed to spread better reflection on the prevention of stroke, which remains a frequent and serious complication of sickle-cell disease.     

Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer

Background

Breast cancer is the most common cancer in women worldwide. About 5 to 10% of cases are due to an inherited predisposition in two major genes, BRCA1 and BRCA2, transmitted as an autosomal dominant form. Male breast cancer is rare and is mainly due to BRCA2 than BRCA1 germline mutations.

Objective

Molecular study of BRCA2 gene in man with familial breast cancer.

Methods

PCR and direct sequencing of BRCA2 gene.

Results

Identification of novel heterozygous germline mutation c.6428C>A ; p.Ser2143Stop of BRCA2 gene.     

Age,Disease Severity and Ethnicity Influence Humoral Responses in a Multi-Ethnic COVID-19 Cohort

The COVID-19 pandemic has affected all individuals across the globe in some way. Despite large numbers of reported seroprevalence studies, there remains a limited understanding of how the magnitude and epitope utilization of the humoral immune response to SARS-CoV-2 viral anti-gens varies within populations following natural infection. Here, we designed a quantitative, multi-epitope protein microarray comprising various nucleocapsid protein structural motifs, including two structural domains and three intrinsically disordered regions. Quantitative data from the microarray provided complete differentiation between cases and pre-pandemic controls (100% sensitivity and specificity) in a case-control cohort (n = 100). We then assessed the influence of disease severity, age, and ethnicity on the strength and breadth of the humoral response in a multi-ethnic cohort (n = 138). As expected, patients with severe disease showed significantly higher antibody titers and interestingly also had significantly broader epitope coverage. A significant increase in antibody titer and epitope coverage was observed with increasing age, in both mild and severe disease, which is promising for vaccine efficacy in older individuals. Additionally, we observed significant differences in the breadth and strength of the humoral immune response in relation to ethnicity, which may reflect differences in genetic and lifestyle factors. Furthermore, our data enabled localization of the immuno-dominant epitope to the C-terminal structural domain of the viral nucleocapsid protein in two independent cohorts. Overall, we have designed, validated, and tested an advanced serological assay that enables accurate quantitation of the humoral response post natural infection and that has revealed unexpected differences in the magnitude and epitope utilization within a population.     

Protective immunity to genital herpes simplex virus type 1 and type 2 provided by self-adjuvanting lipopeptides that drive dendritic cell maturation and elicit a polarized Th1 immune response

Genital herpes simplex virus type 1 and type 2 (HSV-1 and HSV-2) infections are a significant health problem worldwide. While it is believed that CD4+ Th1 cells are among the effectors to herpes immunity, developing an epitope-based clinical vaccine capable of inducing an effective anti-herpes CD4+ Th1-mediated protection is still under investigation. Few molecules achieve this target without the aid of external immuno-adjuvant. The present study was undertaken to examine the immunogenicity in mice of five CD4+ T cell epitope peptides (gD1-29, gD49-82, gD146-179, gD228-257, and gD332-358), recently identified from the HSV-1 glycoprotein D (gD), covalently linked to a palmitic acid moiety (lipopeptides) using the high-yielding chemoselective ligation method and delivered subcutaneously in free-adjuvant saline. Their protective efficacy was evaluated in a progestin-induced susceptibility mouse model of genital herpes following intravaginal challenge with either HSV-1 or HSV-2. Four out of five gD lipopeptides effectively induced virus-specific CD4+ Th1 responses associated with a reduction of virus replication in the genital tract and protection from overt signs of genital disease. A cocktail of three highly immunogenic lipopeptides provoked maturation of dendritic cells, induced interferon gamma (IFN-gamma)-producing CD4+ T cells, and protected against both HSV- 1 and HSV-2 infections. Depletion of specific T cell subsets from lipopeptideimmunized mice before intravaginal HSV challenges demonstrated that CD4+ T cells were primarily responsible for this protection. The strength of induced T cell immunity, together with the ease of construction and safety of these totally synthetic self-adjuvanting lipopeptides, provide a molecularly defined formulation that could combat genital herpes and other human viral infections for which induction of Th1 immunity is crucial.     

T Cell receptor γ variable gene locus polymorphism in patients with rheumatoid arthritis

Objective. We sought new susceptibility markers for rheumatoid arthritis (RA) among the T cell receptor γ (TCRγ) genes. Methods. We analyzed restriction fragment length polymorphisms (RFLP) of the first variable subgroup of TCRγ genes in a group of French control subjects and a group of French RA patients. Results. No significant difference in Eco RI RFLP was found between the 2 study populations: Allele frequencies were virtually identical. There was no polymorphism using Hind III. Conclusion. These results exclude TCRV γI polymorphism as a disease susceptibility marker in RA.