Serum oligoclonal IgG is a common and persistent finding in multiple sclerosis, and has a systemic source

Synthesis of oligoclonal IgG within the central nervous system is a well established feature of multiple sclerosis. The occurrence of oligoclonal IgG in the serum of patients with multiple sclerosis has received little attention. We detected such a serum response in 20/45 consecutive patients (44%, 95% CI 30-59%) but in only 3/41 age- and sex- matched healthy controls (p < 0.01). We present qualitative and quantitative evidence that this oligoclonal IgG has a systemic origin. The plasma cell clones responsible for the serum response are often also represented in the intrathecal compartment. In a further study of the clinical significance of serum oligoclonal bands, in 80 patients, their presence was associated with elevated levels of intrathecal synthesis, increasing age, later disease onset and the presence of serum autoantibodies. These findings add to the evidence that there is a systemic immune disturbance in multiple sclerosis.      

Successful ultrasound‐guided percutaneous embolization of renal pseudoaneurysm by autologous blood clot: Preliminary report of a new method

We report the case of a 25‐year‐old female with renal arteriovenous fistula and pseudoaneurysm (PA) formation following renal core‐needle biopsy, treated successfully by ultrasound‐guided percutaneous embolization with autologous blood clot injection. After inserting a 15‐gauge needle within the PA sac, 10 ml of blood was retrieved from the sac, and then reinjected into the PA as well as in the needle tract after the obtained blood completely clotted. The procedure was completed by manual compression of the flank. Follow‐up sonographic examinations revealed no complication, and the PA size reduced gradually over time due to fibrotic shrinkage. © 2017 Wiley Periodicals, Inc. J Clin Ultrasound 45 :592–596, 2017     

Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families

BackgroundIntellectual disability (ID) is a heterogeneous group of neurodevelopmental disorders that is characterized by significant impairment in intellectual and adaptive functioning with onset during the developmental period. Whole‐exome sequencing (WES)‐based studies in the consanguineous families with individuals affected with ID have shown a high burden of relevant variants. So far, over 700 genes have been reported in syndromic and non‐syndromic ID. However, genetic causes in more than 50% of ID patients still remain unclear.MethodsWhole‐exome sequencing was applied for investigation of various variants of ID, then Sanger sequencing and in silico analysis in ten patients from five Iranian consanguineous families diagnosed with autosomal recessive neurodevelopmental disorders, intellectual disability, performed for confirming the causative mutation within the probands. The most patients presented moderate‐to‐severe intellectual disability, developmental delay, seizure, speech problem, high level of lactate, and onset before 10 years.ResultsFiltering the data identified by WES, two novel homozygous missense variants in FBXO31 and TIMM50 genes and one previously reported mutation in the CEP290 gene in the probands were found. Sanger sequencing confirmed the homozygote variant''s presence of TIMM50 and FBXO31 genes in six patients and two affected siblings in their respective families. Our computational results predicted that the variants are located in the conserved regions across different species and have the impacts on the protein stability.ConclusionHence, we provide evidence for the pathogenicity of two novel variants in the patients which will expand our knowledge about potential mutation involved in the heterogeneous disease.     

Cytotoxic and Antiproliferative Activity of Polyisoprenoids in Seventeen Mangroves Species Against WiDr Colon Cancer Cells

Background: Secondary metabolites from the group of isoprenoid compounds are widely distributed in mangroveplants. Polyisoprenoids (dolichol and polyprenol) are known to have benefits as anticancer agents. The present studywas conducted to determine the cytotoxic potential of polyisoprenoids in leaves from seventeen selected mangrovespecies against colon cancer (WiDr) cells. Methods: Cytotoxic activity was evaluated by MTT assay in vitro usingWiDr human colon cancer cells and 3T3 fibroblasts from Swiss albino mouse embryo tissue as controls. Mechanismsof action were approached by assessing apoptosis and the cell cycle using flow cytometry and fluorescence microscopywith annexin V-FITC, as well as expression of Bcl-2 and cyclin D1 by immunocytochemistry. Results: Polyisoprenoidsfrom N. fruticans leaves demonstrated the highest anticancer activity, with an IC50 of 180.2 μg/mL, as compared to397.7 μg/mL against 3T3 normal cells. Significant decrease in the expression of Bcl-2 and cyclin D1 was also noted,facilitating apoptosis and arrest of the cell cycle in the G0-G1 phase in WiDr cells. The present study showed for thefirst time that polyisoprenoids from N. fruticans exhibit concrete anticancer activity in vitro, decreasing cell proliferationand inducing apoptosis in colon cancer cells. Conclusions: Polyisoprenoids isolated from N. fruticans leaves may havepromise as a source of anticancer agents.     

Toenail onychomycosis in patients with acquired immune deficiency syndrome: treatment with terbinafine

Skin infections caused by dermatophytes are one of the most frequent dermatological complications in patients with acquired immunodeficiency syndrome (AIDS) resulting from infection with human immunodeficiency virus (HIV). Tinea unguium associated with AIDS is characterized by being clinically more aggressive and therapeutically more difficult to treat than in the general population. Terbinafine is considered to be a first-choice option for the treatment of dermatophyte onychomycosis in immunocompetent individuals. This drug has been used in a series of 21 HIV-positive patients diagnosed with tinea unguium for 1 year in the University Hospital La Paz, Madrid. All patients underwent a subsequent clinical follow-up for 6 months. The results showed a high percentage of clinical and mycological cures, as well as maintenance of the response after follow-up; no drug interactions or significant adverse effects related to the drug under study were recorded.