@article {10505, title = {Cervical-length measurement in mid-gestation to predict spontaneous preterm birth in asymptomatic triplet pregnancy.}, journal = {Ultrasound Obstet Gynecol}, volume = {51}, year = {2018}, month = {2018 May}, pages = {614-620}, abstract = {

OBJECTIVE: To assess the predictive value of sonographic cervical-length (CL) measurement in mid-gestation for spontaneous preterm birth (PTB) in asymptomatic triplet pregnancy.

METHODS: This was a retrospective study of asymptomatic triplet pregnancies followed at five Italian tertiary referral centers, between 2002 and 2015. CL was measured transvaginally between 18 and 24 weeks{\textquoteright} gestation. Pregnancies with medically indicated PTB were excluded. Demographic and pregnancy characteristics of pregnancies complicated by PTB were analyzed and the distributions of CL measurements in these patients were calculated. Logistic regression analysis was performed to assess the association between CL and PTB, adjusted for confounders. Performance of CL measurement in prediction of PTB < 28, < 30 and < 32 weeks of gestation was assessed.

RESULTS: A total of 120 triplet pregnancies were included in the final analysis. Median CL was 35 (interquartile range (IQR), 29-40) mm measured at a median gestational age of 20 + 2 (IQR, 20 + 0 to 23 + 4) weeks. Overall, 23 (19.2\%), 17 (14.2\%) and eight (6.7\%) patients had a CL < 25, < 20 and < 15 mm, respectively. Spontaneous PTB < 32 weeks occurred in 41 (34.2\%) cases, < 30 weeks in 23 (19.2\%) and < 28 weeks in 12 (10\%) cases. CL < 15 mm was significantly more frequent in the group of patients who delivered < 28 (P = 0.03) and < 30 (P = 0.01) weeks{\textquoteright} gestation, compared with those who delivered after 28 and after 30 weeks, respectively, while CL < 20 mm was more common in triplet pregnancies with delivery < 32 weeks compared with those delivered >= 32 weeks (P = 0.03). Logistic regression analysis was possible only for PTB < 32 weeks due to the small number of cases that delivered < 30 and < 28 weeks. After adjustment for confounders, CL was not significantly associated with PTB < 32 weeks (adjusted odds ratio, 0.97; 95\% CI, 0.94-1.01). CL measurement had an area under the receiver-operating characteristics curve of 0.41 (95\% CI, 0.20-0.62), 0.41 (95\% CI, 0.26-0.56) and 0.42 (95\% CI, 0.31-0.54) for the prediction of spontaneous PTB < 28, < 30 and < 32 weeks, respectively.

CONCLUSION: CL assessed in mid-gestation is a poor predictor of PTB < 28, < 30 and < 32 weeks{\textquoteright} gestation in asymptomatic triplet pregnancy. Copyright {\textcopyright} 2017 ISUOG. Published by John Wiley \& Sons Ltd.

}, keywords = {Adult, Cervical Length Measurement, Female, Gestational Age, Humans, Infant, Newborn, Logistic Models, Predictive Value of Tests, Pregnancy, Pregnancy, Triplet, Premature Birth, Retrospective Studies}, issn = {1469-0705}, doi = {10.1002/uog.17464}, author = {Fichera, A and Pagani, G and Stagnati, V and Cascella, S and Faiola, S and Gaini, C and Lanna, M and Pasquini, L and Raffaelli, R and Stampalija, T and Tommasini, A and Prefumo, F} } @article {7764, title = {Long noncoding RNA GAS5: a novel marker involved in glucocorticoid response.}, journal = {Curr Mol Med}, volume = {15}, year = {2015}, month = {2015}, pages = {94-9}, abstract = {

Glucocorticoids (GCs) exert their effects through regulation of gene expression after activation in the cytoplasm of the glucocorticoid receptor (GR) encoded by NR3C1 gene. A negative feedback mechanism resulting in GR autoregulation has been demonstrated through the binding of the activated receptor to intragenic sequences called GRE-like elements, contained in GR gene. The long noncoding RNA growth arrest-specific transcript 5 (GAS5) interacts with the activated GR suppressing its transcriptional activity. The aim of this study was to evaluate the possible role of GAS5 and NR3C1 gene expression in the antiproliferative effect of methylprednisolone in peripheral blood mononuclear cells and to correlate the expression with individual sensitivity to GCs. Subjects being poor responders to GCs presented higher levels of GAS5 and NR3C1 in comparison with good responders. We suggest that abnormal levels of GAS5 may alter GC effectiveness, probably interfering with the mechanism of GR autoregulation.

}, keywords = {Adult, Cell Proliferation, Female, Gene Expression Regulation, Glucocorticoids, Humans, Leukocytes, Mononuclear, Male, Methylprednisolone, Middle Aged, Receptors, Glucocorticoid, RNA, Long Noncoding, Transcription, Genetic}, issn = {1875-5666}, author = {Lucafo, M and De Iudicibus, S and Di Silvestre, A and Pelin, M and Candussio, L and Martelossi, S and Tommasini, A and Piscianz, E and Ventura, A and Decorti, G} } @article {1988, title = {Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis.}, journal = {Dermatology}, volume = {225}, year = {2012}, month = {2012}, pages = {294-7}, abstract = {

Phylloid hypomelanosis is a distinct type of pigmentary mosaicism characterized by congenital hypochromic macules resembling a floral ornament with various elements such as round or oval patches, asymmetrical macules similar to begonia leaves, or oblong lesions. It has been found to be predominantly associated with abnormalities in chromosome 13 and sometimes as-sociated with different extracutaneous abnormalities. Here, we report 2 new cases of phylloid hypomelanosis due to mosaicism involving chromosome 13. The first one is a mosaicism for a supernumerary marker belonging to chromosome 13 and the second one is the first report of phylloid hypomelanosis associated with a mosaic deletion of 13q. Because of the extremely low level of mosaicism in these 2 cases, SNP array analysis on skin fibroblasts was carried out, showing a 13q21.33-q34 duplication (71,024,411-115,103,529) and a 13q13.3-q34 (38,368,012-115,103,529) deletion. Both cases underline on the one hand the strict connection between phylloid hypomelanosis and anomalies of chromosome 13, and on the other hand the relevance of the SNP array analysis on skin fibroblasts in the detection of low-level mosaicism.

}, keywords = {Chromosomes, Human, Pair 13, Humans, Hypopigmentation, Male, Mosaicism, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide}, issn = {1421-9832}, doi = {10.1159/000342884}, author = {Faletra, F and Berti, I and Tommasini, A and Pecile, V and Cleva, L and Alberini, E and Bruno, I and Gasparini, P} } @article {1755, title = {Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene.}, journal = {Arthritis Rheum}, volume = {63}, year = {2011}, month = {2011 Apr}, pages = {1141-50}, abstract = {

OBJECTIVE: To analyze the long-term impact of the R92Q mutation of TNFRSF1A in children with periodic fever, in comparison with children with tumor necrosis factor receptor-associated periodic syndrome (TRAPS) with TNFRSF1A structural mutations and children with periodic fever of unknown origin fulfilling the criteria for periodic fever, aphthosis, pharyngitis, and adenitis syndrome (PFAPA).

METHODS: The extracellular region of TNFRSF1A was analyzed in 720 consecutive children with periodic fever, using denaturing high-performance liquid chromatography and DNA sequencing. Followup data on 11 pediatric patients with TNFRSF1A structural mutations (cysteine or T50M), 23 pediatric patients with an R92Q substitution, and 64 pediatric patients with PFAPA were collected during routine clinic visits. The 50-item Child Health Questionnaire was used to assess health-related quality of life (HRQOL).

RESULTS: The frequency of typical TRAPS-related clinical manifestations was significantly lower and the impact of the disease on HRQOL was significantly reduced in patients with the R92Q mutation compared with TRAPS patients carrying structural mutations of TNFRSF1A. Followup data on 11 TRAPS patients with TNFRSF1A structural mutations (mean followup 7.9 years), 16 patients with theR92Q substitution (mean followup 7.3 years), and 64 patients with PFAPA (mean followup 5.2 years) were available. Patients with R92Q mutations and patients with PFAPA displayed a higher rate of self-resolution or amelioration of the fever episodes than did TRAPS patients with structural mutations.

CONCLUSION: Although some cases may progress to a more chronic disease course, the majority of children with an R92Q mutation of the TNFRSFA1 gene show a milder disease course than that in children with TNFRSFA1 structural mutations and have a high rate of spontaneous resolution and amelioration of the recurrent fever episodes.

}, keywords = {Adolescent, Antirheumatic Agents, Biological Therapy, Child, Child, Preschool, Familial Mediterranean Fever, Female, Fever, Follow-Up Studies, Genotype, Health Surveys, Humans, Infant, Interleukin 1 Receptor Antagonist Protein, Longitudinal Studies, Lymphadenitis, Male, Mutation, Pharyngitis, Quality of Life, Receptors, Tumor Necrosis Factor, Receptors, Tumor Necrosis Factor, Type I, Recurrence, Retrospective Studies, Steroids, Syndrome}, issn = {1529-0131}, doi = {10.1002/art.30237}, author = {Pelagatti, M A and Meini, A and Caorsi, R and Cattalini, M and Federici, S and Zulian, F and Calcagno, G and Tommasini, A and Bossi, G and Sormani, M P and Caroli, F and Plebani, A and Ceccherini, I and Martini, A and Gattorno, M} }