- Email: [email protected]
Concomitant determination of MIA and S100 proteins as prognostic factors in cutaneous malignant melanoma
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Abstracts / Journal of Biotechnology 256S (2017) S44–S116
HbF induction therapies that are able to positively influence the clinical phenotype of -thalassemia. http://dx.doi.org/10.1016/j.jbiotec.2017.06.1065 Concomitant determination of MIA and S100 proteins as prognostic factors in cutaneous malignant melanoma Madalina Bolovan 1,∗ , Silviu Voinea 2 , Eugenia Panaitescu 2 , Adina Stanciu 1 , Antonela Busca 1 , Sabin Cinca 1 , Angela Sandru 1
and medical history showed type 2 diabetes mellitus, centripedal obesity, hepatomegaly, skin loose, normal intellectual ability and seconder infertility. Skin loose findings were examined for the proband case and his son. He was analyzed by looking at comparing methods of conventional cytogenetic karyotype examination, MicroArray-CGH (Agilent 60 K platform, US). Karyotyping revealed 46,XY,9qh+ and 14q11.2 deletion including SLC7A7 gene region was detached by array CGH. This rare disease may not clear and present itself as infertility instead of its characteristic manifestation. Furthermore, array CGH and Next Generation Sequencing may be useful for diagnosis of this patients.
1
Institute of Oncology Prof. Dr. Alex Trestioreanu Bucharest, Romania 2 University of Medicine and Pharmacy Carol Davila, Bucharest, Romania E-mail address: [email protected] (M. Bolovan). Cutaneous malignant melanoma (CMM) accounts for 4% of all dermatological cancers and for 80% of deaths associated with skin cancer. MIA (Melanoma Inhibitory Activity Protein) is a protein that plays a role in reducing the cell attachment capacity to the extracellular matrix, favoring metastasis. S100 inhibits protein phosphorylation and cytoskeleton formation, thus contributing to cellular progression as well. Using an optimized ELISA technique, the concentrations of soluble MIA and S100 proteins were determined in patients diagnosed with cutaneous malignant melanoma in various evolutionary stages, the values being compared with those on a group of healthy volunteers for whom the cut-off values were set. The method used has been shown to have higher sensitivity and reproducibility values than those obtained by other methods of protein quantification. The results have shown higher risk of relapse and a significant reduction in survival if both serum proteins have values higher than the reference limits; the results are more significant than the independent determinations of the two proteins. This work was supported by a grant from the Romanian National Authority for Scientific Research and Innovation, CNCS/CCCDI – UEFISCDI, project number PN-III-P2-2.1-BG-2016-0439/Bridge Grant no 119BG/2016, within PNCDI III. http://dx.doi.org/10.1016/j.jbiotec.2017.06.1066 Clinical and molecular characterization of SLC7A gene that located in 14q11.2 locus in a seconder infertile rare case with lysinuric protein intolerance
http://dx.doi.org/10.1016/j.jbiotec.2017.06.1067 The microdeletion of 15q11.2 locus encompassing TUBGCP5, NIPA1, NIPA2, and CYFIP1 genes in an epileptic case with macrocephaly, attention-deficit/hyperactivity disorder (ADHD), speech and motor delay Ozturk Ozdemir, Onur Yildiz, Taner Karakaya ∗ , Baris Paksoy, Mine Urfali, Fatma Silan Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey E-mail address: [email protected] (T. Karakaya). Chromosome 15q11.2 deletion syndrome (OMIM#615656) is a contiguous gene deletion syndrome flanked by BP1 and BP2 of the Prader–Willi/Angelman syndrome critical region with comprising approximately 300–500 kb. Here we report a case of various phenotypic spectrum with TUBGCP5, NIPA1, NIPA2, and CYFIP1 genes deletion. We report a non-consanguineous 17-year-old female patient with macrocephaly, dysmorphic facial traits, as well as developmental delay, intellectual disability, attention-deficit/hyperactivity disorder (ADHD) and epilepsy in the current case report. She was in a normal karyotype but 315 kb deletion at 15q11.2 BP1 and BP2 locus that encompassed TUBGCP5 NIPA1, NIPA2, and CYFIP1 genes were detected after MicroArray-CGH (Agilent 60 K platform, US) analysis. Based on the current case report, we confirmed that the clinical spectrum of epilepsy, speech and psychomotor developmental delay, autism, macrocephaly and attention-deficit/hyperactivity may be associated with 15q11.2 BP1 BP2 microdeletion locus due to haploinsufficiency for without Prader–Willi/Angelman syndrome.
Fatma Silan, Baris Paksoy ∗ , Mine Urfali, Taner Karakaya, Ozturk Ozdemir
http://dx.doi.org/10.1016/j.jbiotec.2017.06.1068
Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey
A mental and motor retarded case with derivative chromosome 8p rearrangements: Genotype–phenotype correlation in a case report
E-mail address: [email protected] (B. Paksoy). Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder that caused by point mutation in solute carrier family 7A member 7 gene (SLC7A7). SLC7A7 gene expresses the cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in kidney and intestine. Forty two-year-old infertile male presented to medical genetics clinic with some phenotypic findings and her wife’s losing eighteen weeks fetus. He was 3500 g, full term product of uncomplicated pregnancy and his neuromotor development and Intelligence Quotient (IQ) were within normal limits. Physical examination
Fatma Silan, Taner Karakaya, Onur Yildiz ∗ , Baris Paksoy, Mine Urfali, Ozturk Ozdemir Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey E-mail address: [email protected] (O. Yildiz). Rearrangements that occur mainly through non-allelic homologous recombination (NAHR) during maternal meiosis in short arms of chromosome 8 relatively uncommon and associated with some
Abstracts / Journal of Biotechnology 256S (2017) S44–S116
HbF induction therapies that are able to positively influence the clinical phenotype of -thalassemia. http://dx.doi.org/10.1016/j.jbiotec.2017.06.1065 Concomitant determination of MIA and S100 proteins as prognostic factors in cutaneous malignant melanoma Madalina Bolovan 1,∗ , Silviu Voinea 2 , Eugenia Panaitescu 2 , Adina Stanciu 1 , Antonela Busca 1 , Sabin Cinca 1 , Angela Sandru 1
and medical history showed type 2 diabetes mellitus, centripedal obesity, hepatomegaly, skin loose, normal intellectual ability and seconder infertility. Skin loose findings were examined for the proband case and his son. He was analyzed by looking at comparing methods of conventional cytogenetic karyotype examination, MicroArray-CGH (Agilent 60 K platform, US). Karyotyping revealed 46,XY,9qh+ and 14q11.2 deletion including SLC7A7 gene region was detached by array CGH. This rare disease may not clear and present itself as infertility instead of its characteristic manifestation. Furthermore, array CGH and Next Generation Sequencing may be useful for diagnosis of this patients.
1
Institute of Oncology Prof. Dr. Alex Trestioreanu Bucharest, Romania 2 University of Medicine and Pharmacy Carol Davila, Bucharest, Romania E-mail address: [email protected] (M. Bolovan). Cutaneous malignant melanoma (CMM) accounts for 4% of all dermatological cancers and for 80% of deaths associated with skin cancer. MIA (Melanoma Inhibitory Activity Protein) is a protein that plays a role in reducing the cell attachment capacity to the extracellular matrix, favoring metastasis. S100 inhibits protein phosphorylation and cytoskeleton formation, thus contributing to cellular progression as well. Using an optimized ELISA technique, the concentrations of soluble MIA and S100 proteins were determined in patients diagnosed with cutaneous malignant melanoma in various evolutionary stages, the values being compared with those on a group of healthy volunteers for whom the cut-off values were set. The method used has been shown to have higher sensitivity and reproducibility values than those obtained by other methods of protein quantification. The results have shown higher risk of relapse and a significant reduction in survival if both serum proteins have values higher than the reference limits; the results are more significant than the independent determinations of the two proteins. This work was supported by a grant from the Romanian National Authority for Scientific Research and Innovation, CNCS/CCCDI – UEFISCDI, project number PN-III-P2-2.1-BG-2016-0439/Bridge Grant no 119BG/2016, within PNCDI III. http://dx.doi.org/10.1016/j.jbiotec.2017.06.1066 Clinical and molecular characterization of SLC7A gene that located in 14q11.2 locus in a seconder infertile rare case with lysinuric protein intolerance
http://dx.doi.org/10.1016/j.jbiotec.2017.06.1067 The microdeletion of 15q11.2 locus encompassing TUBGCP5, NIPA1, NIPA2, and CYFIP1 genes in an epileptic case with macrocephaly, attention-deficit/hyperactivity disorder (ADHD), speech and motor delay Ozturk Ozdemir, Onur Yildiz, Taner Karakaya ∗ , Baris Paksoy, Mine Urfali, Fatma Silan Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey E-mail address: [email protected] (T. Karakaya). Chromosome 15q11.2 deletion syndrome (OMIM#615656) is a contiguous gene deletion syndrome flanked by BP1 and BP2 of the Prader–Willi/Angelman syndrome critical region with comprising approximately 300–500 kb. Here we report a case of various phenotypic spectrum with TUBGCP5, NIPA1, NIPA2, and CYFIP1 genes deletion. We report a non-consanguineous 17-year-old female patient with macrocephaly, dysmorphic facial traits, as well as developmental delay, intellectual disability, attention-deficit/hyperactivity disorder (ADHD) and epilepsy in the current case report. She was in a normal karyotype but 315 kb deletion at 15q11.2 BP1 and BP2 locus that encompassed TUBGCP5 NIPA1, NIPA2, and CYFIP1 genes were detected after MicroArray-CGH (Agilent 60 K platform, US) analysis. Based on the current case report, we confirmed that the clinical spectrum of epilepsy, speech and psychomotor developmental delay, autism, macrocephaly and attention-deficit/hyperactivity may be associated with 15q11.2 BP1 BP2 microdeletion locus due to haploinsufficiency for without Prader–Willi/Angelman syndrome.
Fatma Silan, Baris Paksoy ∗ , Mine Urfali, Taner Karakaya, Ozturk Ozdemir
http://dx.doi.org/10.1016/j.jbiotec.2017.06.1068
Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey
A mental and motor retarded case with derivative chromosome 8p rearrangements: Genotype–phenotype correlation in a case report
E-mail address: [email protected] (B. Paksoy). Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder that caused by point mutation in solute carrier family 7A member 7 gene (SLC7A7). SLC7A7 gene expresses the cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in kidney and intestine. Forty two-year-old infertile male presented to medical genetics clinic with some phenotypic findings and her wife’s losing eighteen weeks fetus. He was 3500 g, full term product of uncomplicated pregnancy and his neuromotor development and Intelligence Quotient (IQ) were within normal limits. Physical examination
Fatma Silan, Taner Karakaya, Onur Yildiz ∗ , Baris Paksoy, Mine Urfali, Ozturk Ozdemir Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey E-mail address: [email protected] (O. Yildiz). Rearrangements that occur mainly through non-allelic homologous recombination (NAHR) during maternal meiosis in short arms of chromosome 8 relatively uncommon and associated with some