@article {10418, title = {Cerebrospinal Fluid Cytokine Expression Profile in Multiple Sclerosis and Chronic Inflammatory Demyelinating Polyneuropathy.}, journal = {Immunol Invest}, volume = {47}, year = {2018}, month = {2018 Feb}, pages = {135-145}, abstract = {

BACKGROUND: Cerebrospinal fluid (CSF) analysis in patients with particular neurologic disorders is a powerful tool to evaluate specific central nervous system inflammatory markers for diagnostic needs, because CSF represents the specific immune micro-environment to the central nervous system.

METHODS: CSF samples from 49 patients with multiple sclerosis (MS), chronic inflammatory demyelinating polyneuropathy (CIDP), and non-inflammatory neurologic disorders (NIND) as controls were submitted to protein expression profiles of 47 inflammatory biomarkers by multiplex Luminex bead assay to investigate possible differences in the inflammatory process for MS and CIDP.

RESULTS: Our results showed differences in CSF cytokine levels in MS and CIDP; in particular, IL12 (p40) was significantly highly expressed in MS in comparison with CIDP and NIND, while SDF-1α and SCGF-β were significantly highly expressed in CIDP cohort when compared to MS and NIND. IL-9, IL-13, and IL-17 had higher expression levels in NIND if compared with the other groups.

CONCLUSIONS: Our study showed that, despite some common pathogenic mechanisms, central and peripheral nervous system demyelinating diseases, such as MS and CIDP, differ in some specific inflammatory soluble proteins in CSF, underlining differences in the immune response involved in those autoimmune diseases.

}, keywords = {Adult, Aged, Biomarkers, Central Nervous System, Diagnosis, Differential, Female, Hematopoietic Cell Growth Factors, Humans, Interleukin-12, Lectins, C-Type, Male, Middle Aged, Multiple Sclerosis, Peripheral Nervous System, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, Proteins}, issn = {1532-4311}, doi = {10.1080/08820139.2017.1405978}, author = {Bonin, Serena and Zanotta, Nunzia and Sartori, Arianna and Bratina, Alessio and Manganotti, Paolo and Trevisan, Giusto and Comar, Manola} } @article {7698, title = {Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.}, journal = {Birth Defects Res A Clin Mol Teratol}, volume = {103}, year = {2015}, month = {2015 Dec}, pages = {1003-1010}, abstract = {

BACKGROUND: Fanconi anemia (FA) is a rare genetic disease characterized by congenital malformations, aplastic anemia and increased risk of developing malignancies. FA is genetically heterogeneous as it is caused by at least 17 different genes. Among these, FANCA, FANCC, and FANCG account for approximately 85\% of the patients whereas the remaining genes are mutated in only a small percentage of cases. For this reason, the molecular diagnostic process is complex and not always extended to all the FA genes, preventing the characterization of individuals belonging to rare groups.

METHODS: The FA genes were analyzed using a next generation sequencing approach in two unrelated families.

RESULTS: The analysis identified the same, c.484_485del, homozygous mutation of FANCF in both families. A careful examination of three electively aborted fetuses in one family and one affected girl in the other indicated an association of the FANCF loss-of-function mutation with a severe phenotype characterized by multiple malformations.

CONCLUSION: The systematic use of next generation sequencing will allow the recognition of individuals from rare complementation groups, a better definition of their clinical phenotypes, and consequently, an appropriate genetic counseling. Birth Defects Research (Part A) 103:1003-1010, 2015. {\textcopyright} 2015 Wiley Periodicals, Inc.

}, issn = {1542-0760}, doi = {10.1002/bdra.23388}, author = {Nicchia, Elena and Benedicenti, Francesco and Rocco, Daniela De and Greco, Chiara and Bottega, Roberta and Inzana, Francesca and Faleschini, Michela and Bonin, Serena and Cappelli, Enrico and Mogni, Massimo and Stanzial, Franco and Svahn, Johanna and Dufour, Carlo and Savoia, Anna} }