Increased Expression of Pentraxin 3 in Placental Tissues from Patients with Unexplained Recurrent Pregnancy Loss.

Pentraxin 3 (PTX3), a prototypical member of the long pentraxin subfamily, is a evolutionarily conserved multimeric pattern recognition receptor involved in the humoral component of the innate immune system. Pentraxin 3 is released when tissue is stressed or damaged, and interacts with many different ligands. Pentraxin 3 exerts a pivotal role both as a regulator and as an indicator of inflammatory response in the pathogenesis of many diseases such as sepsis, vasculitis and preeclampsia. Uncontrolled inflammatory response is considered a major cause of unexplained recurrent pregnancy loss (URPL). We determined the PTX3 messenger ribonucleic acid (mRNA) and protein expression levels in placentai tissues from 50 women with URPL, and made comparison with those in 50 age-matched control subjects. In quantitative real-time polymerase chain reaction (qRT-PCR) and immunohistochemistry analyses, PTX3 mRNA and protein levels, respectively, were significantly increased in URPL patients compared with their respective controls (p = 0.0001). Although no significant correlations were identified between PTX3 expression levels and clinical parameters such as maternal age, numbers of previous pregnancy losses, and gestational age at miscarriage, PTX3 mRNA expression was significantly higher in patients with no live births than in women with previous live births (p = 0.0001). Our study suggests that tissue-specific expression of PTX3 is associated with URPL. Further larger studies are required to determine whether PTX3 expression can be used as a biomarker to manage URPL in routine clinical practice.

MEFV gene variation R202Q is associated with metabolic syndrome.

OBJECTIVE: MEFV (Mediterranean fever) gene encoding pyrin regulates inflammatory responses. It has been shown that MEFV gene variations are associated with higher acute phase responses and altered course in the different inflammatory diseases. MEFV gene variations may affect the course of metabolic syndrome components. PATIENTS AND METHODS: This study included 50 patients with metabolic syndrome and 50 unrelated healthy controls. Genomic DNAs were isolated from patients and healthy controls with standard methods and analysis of exon 2 and 10 of MEFV gene was performed by using Sanger sequencing method. RESULTS: The MEFV gene variations were detected in 21 patients with metabolic syndrome (42%) and 12 healthy controls (24%) (p=0.55). The frequency of MEFV gene variations with high penetrance (i.e. M694V, M680I, V726A) was similar between patients and healthy controls (p>0.05). We found that R202Q was more frequent in the patient group (n=11 [22%] vs. n=3 [6%]) and associated with metabolic syndrome (p: 0.021; OR: 4.42; CI95%: 1.15-16.97). When patients with and without MEFV gene variations were compared, no significant difference was found in laboratory and clinical parameters. CONCLUSIONS: To best of our knowledge, this is the first study indicating an association between MeS and R202Q mutation of MEFV gene. Familial Mediterranean fever (FMF) related MEFV gene variations may contribute to the pathogenesis of metabolic syndrome.

Relationship between the SNAP-25 gene and the effects of methylphenidate on the anterior cingulate cortex of patients with adult attention deficit hyperactivity disorder: a magnetic resonance spectroscopy study.

OBJECTIVE: The effects of certain genetic alterations in the brain function of patients with attention deficit hyperactivity disorder (ADHD) remain unclear and, in fact, there is a limited amount of data in this field. For example, the relationship between the SNAP-25 polymorphism and brain metabolites in response to methylphenidate (MPH) has yet to be investigated. Thus, the present study aimed to determine the relationship between changes in creatine (Cr), choline (Cho), and N-acetyl aspartate (NAA) levels in the prefrontal cortex (PFC) and anterior cingulate cortex (ACC) of adults with ADHD and the SNAP-25 gene polymorphism following the use of MPH. PATIENTS AND METHODS: The present study assessed 60 patients between 18 and 60 years of age who were diagnosed with ADHD according to criteria from the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition (DSM-IV). Genetic analyses were carried out using blood samples obtained from the ADHD patients and included a detailed clinical evaluation for the SNAP-25 gene polymorphism. The NAA, Cr, and Cho levels in the ACC and PFC were measured using magnetic resonance spectroscopy (MRS). Following the evaluation, 10 mg of oral MPH was given to the patients, and the same metabolite levels were measured after 30 minutes. RESULTS: The levels of NAA, Cr, and Cho in the PFC and ACC of patients with the SNAP-25 Ddel and Mnll polymorphism genotypes did not significantly differ before and after the administration of MPH. However, in patients with the SNAP-25 Ddel polymorphism T/T genotype and the Mnll polymorphism G/G genotype, there was a significant increase in NAA levels in the ACC after MPH treatment compared with before MPH treatment. CONCLUSION: The present results suggest that the SNAP-25 Ddel and Mnll polymorphisms might be associated with MPH-related changes in NAA levels in the ACC.

Mutational status of EZH2 and CD79B hot spots in mature B-cell non-Hodgkin's lymphomas: novel CD79B variations have been revealed.

OBJECTIVE: We aimed to determine the hot spot mutational frequencies of Enhancer of Zeste homolog 2 (EZH2) and cluster of differentiation 79B (CD79B) genes in a cohort of mature B-cell non-Hodgkin's lymphomas. PATIENTS AND METHODS: DNA samples from formalin-fixed and paraffin embedded (FFPE) tissues from a total of 37 patients with mature B-cell non-Hodgkin lymphomas were included in the study. Molecular genetic analysis was performed by direct sequencing of the DNA samples. RESULTS: We analyzed formaldehyde fixed-paraffin embedded (FFPE) tumor tissue samples from 17 female and 20 male patients with a median age of 63.7 years at the time of diagnosis. None of the patients had previously reported hot spot mutations in EZH2 and CD79B, but previously unreported single nucleotide variations of CD79B were present in nine patients. rs779833118 was the most frequent variation (7/37 patients, 18.9%). A non-synonymous variation rs757407417, which could have a potentially damaging outcome, was detected in two patients. CONCLUSIONS: None of the patients had well-known hot spot mutations in EZH2 and CD79B. However, we detected novel CD79B variations in mature B-cell non-Hodgkin's lymphoma patients.