Complexity of diagnosing and treating langerhans cell sarcoma: A case report.

Introduction: Langerhans cell sarcoma (LCS) is a very rare malignant tumor of Langerhans cells that may metastasize to many organs. The diagnosis of this tumor is difficult and its prognosis is poor.

Aim: To report the difficulty to diagnose LCS, and discuss therapeutic management of this rare entity.

Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.

Intellectual disability (ID) often co-occurs with other neurologic phenotypes making molecular diagnosis more challenging particularly in consanguineous populations with the co-segregation of more than one ID-related gene in some cases. In this study, we investigated the phenotype of three patients from a large Tunisian family with significant ID phenotypic variability and microcephaly and performed a clinical exome sequencing in two cases. We identified, within the first branch, a homozygous variant in the TRAPPC9 gene (p.

Nodular Hepatic Tuberculosis Masquerading as a Seminoma Liver Metastasis.

Isolated macro-nodular liver tuberculosis is a very rare condition. It may mimic primitive or secondary tumors of the liver. This could delay or mislead the therapeutic management.

Left-sided congenital heart lesions in mosaic Turner syndrome.

In the era of the diseasomes and interactome networks, linking genetics with phenotypic traits in Turner syndrome should be studied thoroughly. As a part of this stratagem, mosaicism of both X and Y chromosome which is a common finding in TS and an evaluation of congenital heart diseases in the different situations of mosaic TS types, can be helpful in the identification of disturbed sex chromosomes, genes and signaling pathway actors. Here we report the case of a mosaic TS associated to four left-sided CHD, including BAV, COA, aortic aneurysms and dissections at an early age.

The effect of a motor skills training program in the improvement of practiced and non-practiced tasks performance in children with developmental coordination disorder (DCD).

The purpose of the present study was to examine the effect of a group-based task oriented skills training program on motor and physical ability for children with DCD. It was also investigated if there was an effect on fine motor and handwriting tasks that were not specifically practiced during the training program. Forty-one children aged 6-10years took part in this study.

The effects of 8 weeks of motor skill training on cardiorespiratory fitness and endurance performance in children with developmental coordination disorder.

Interventions based on everyday motor skills have been developed to be effective in children with developmental coordination disorder (DCD). The purpose of the present study was to examine the effects of motor skill training on exercise tolerance and cardiorespiratory fitness in children with DCD. Children were assigned to 3 groups: an experimental training group comprising 14 children with DCD, a control nontraining group comprising 13 children with DCD, and a control nontraining group comprising 14 typically developed children.

Diagnostic value of enzyme-linked immunosorbent assays using hypothetical proteins CT226 and CT795 as antigens in Chlamydia trachomatis serodiagnosis.

The CT226 and the CT795 proteins were produced as purified recombinant proteins and were used as antigens in enzyme-linked immunosorbent assay (ELISA) tests for the detection of Chlamydia trachomatis IgG antibodies. The performances of the developed ELISA tests were compared with our in-house microimmunofluorescence test and the species-specific pELISA test using a panel of 342 sera. Our results indicate that the performance of the CT795 ELISA test was higher than that of the CT226 ELISA test according to the microimmunofluorescence and to the pELISA.

Diagnostic value of an enzyme-linked immunosorbent assay using the recombinant CT694 species-specific protein of Chlamydia trachomatis.

Aim: To study the performance of the CT694 protein in relation to the microimmunofluorescence (MIF) and the pELISA tests for the serodiagnosis of Chlamydia trachomatis infections.

Methods And Results: The CT694 protein was produced as recombinant protein and was used as antigen in ELISA test for the detection of C. trachomatis IgG antibodies.

Evaluation of an in silico predicted specific and immunogenic antigen from the OmcB protein for the serodiagnosis of Chlamydia trachomatis infections.

Background: The OmcB protein is one of the most immunogenic proteins in C. trachomatis and C. pneumoniae infections.

Evaluation and optimization of a commercial enzyme linked immunosorbent assay for detection of Chlamydophila pneumoniae IgA antibodies.

Background: Serologic diagnosis of Chlamydophila pneumoniae (Cpn) infection routinely involves assays for the presence of IgG and IgM antibodies to Cpn. Although IgA antibodies to Cpn have been found to be of interest in the diagnosis of chronic infections, their significance in serological diagnosis remains unclear. The microimmunofluorescence (MIF) test is the current method for the measurement of Cpn antibodies.