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Clinical characteristics and cytogenetic abnormalities of chromosome 22q11.2 syndrome: Results from thirteen patients with variable phenotypes
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Abstracts / Journal of Biotechnology 231S (2016) S4–S109
focused on SNPs previously assessed on several European populations: −1438G > A and −809A > G of the genes coding for 2A and D4 receptors for serotonin and dopamine, respectively. A total of 308 EDs patients and 96 unrelated healthy controls have been so far recruited. Preliminary results show a positive association between the two SNPs and BN diagnosis. http://dx.doi.org/10.1016/j.jbiotec.2016.05.293 The quality of some cheeses manufactured by traditional methods Adriana Morar ∗ , Kálmán Imre, Octavian Onci, Claudia Corina Sala Animal Production and Veterinary Public Health, Faculty of Veterinary Medicine, Banat’s University Agricultural Sciences and Veterinary Medicine “King Michael I of Romania” from Timisoara, Romania E-mail address: [email protected] (A. Morar). Cheese-making in different regions of Romania has an old tradition, especially in mountainous and sub mountainous areas. This study was carried out to analyze the chemical composition and microbiological quality of different types of cheeses: soft cheese (curd, whey cheese, bellow cheese), semisoft cheese (sheep soft cheese, teleme – sheep maturated brined cheese) and semihard cheese (yellow cheese), manufactured through traditional methods. A total of 15 cheese samples were collected from four agro-food markets. The chemical parameters analyzed were: moisture, dry matter, fat in dry matter, and sodium chloride content. The results revealed higher moisture content in four samples (26%) of cheese, five cheese samples (33%) had a lower content of fat-in-dry matter, and sodium chloride content exceeded in four samples (26%) of cheeses, when compared with the Romanian Standard Requirements. The variation of chemical parameters may be attributed to the chemical composition of milk and processing technology. All analyzed samples were negative for Salmonella spp. and Listeria monocytogenes. Coagulase-positive Staphylococci were detected in 11 samples (73.3%), at levels between 2 and 4.81 Log CFU/g, and three samples (20%) exceeded 4 Log CFU/g. These results should be carefully considered because Staphylococcus aureus at levels over 5 Log CFU/g is recognized as being able to produce amounts of enterotoxins which constitute a risk for human health. Escherichia coli was detected in four samples (26.6%) and ranged between 1.69 and 5.11 Log CFU/g. These findings reflect improper hygiene of some practices in the preparation of cheese sold in agro-food markets in Romania. http://dx.doi.org/10.1016/j.jbiotec.2016.05.294 Clinical characteristics and cytogenetic abnormalities of chromosome 22q11.2 syndrome: Results from thirteen patients with variable phenotypes Fatma Silan, Baris Paksoy ∗ , Ozturk Ozdemir Department of Medical Genetics, Canakkale Onsekiz March University, Faculty of Medicine, Turkey E-mail address: [email protected] (B. Paksoy). Chromosome 22, particularly band 22q11.2, is predisposed to rearrangements due to misalignments of low-copy repeats (LCRs). DiGeorge/Velocardiofacial Syndrome (DG/VCFS) is a common
disorder resulting from microdeletion but microduplications and inversions reported rarely. Here we report clinical characteristics and cytogenetic abnormalities of chromosome 22q11.2 syndrome for the 13 patients from 12 family. 4 patients with 22q11.2 deletion referred at newborn or childhood period, for congenital heart defects and dysmorphic facial abnormalities, convulsion, mental and motor retardation. 5 adult patients with duplication 22q11.2 referred for infertility, recurrent pregnancy loss (RPL) or premature menapouse (POF). Only one duplication case referred at childhood for short stature and underweight. One proband has a healthy-intelligent daughter carry same duplication. All duplication cases have normal intelligence, none of them has velocardiofacial insufficiency. Only one patient has high myopia. One case with duplication 22q11.3 has RPL. Inversion 22q11.21 case was referred because of short stature but her father also short stature and normal 22th chromosomes. Inversion 22q11.3 case was referred for infertility, he is tall (1.86 cm), he has attention deficit and hyperactivity. All patients examined for dysmorphic features, chromosomes evaluated by trypsin-GTG banding (550 band) and fluorescence in situ hybridization (FISH) technique after lymphocyte culture. Results showed deletion 22q11.2 cause variable dysmorphicclinical findings but duplications seems benign. The association between RPL history, infertility and POF and 22q11.2 duplication is the first report of the literature. Results also showed that all structural abnormalities in the chromosome 22 in the current probands were de novo mutations and not transmitted by their parents, but transmitted to the proband’s child. http://dx.doi.org/10.1016/j.jbiotec.2016.05.295 Effect of water deuterium content on plants development Diana Costinel 1,∗ , Roxana Elena Ionete 1 , Oana Romina Botoran 1 , Raluca Popescu 1 , Gallia Butnaru 2 1
National Research & Development Institute for Cryogenics and Isotopic Technologies – ICSI Rm., Valcea, Romania 2 Banat University of Agricultural Sciences and Veterinary Medicine Timisoara, Romania E-mail address: [email protected] (D. Costinel). The organogenesis of plants is influenced by the water deuterium concentration in plant tissues which is dependent by the plant species, age and tissue type. A study was performed on Vitis Vinifera plants grown in different environmental conditions and in laboratory, from 2009 to 2013. Water extracted from plants in various stages of development showed a concentration in heavy isotopes during plant evolution to maturity, from the early period when plants enter into vegetation. Deuterium content from the vine sap grape had values between 141 and 145 ppm (lower values in the cold spring of 2009 and 2013 compared to 2011 and 2012), increasing to the final product at 151÷154 ppm. In laboratory conditions, for one year, was conducted an investigation regarding influence of deuterium concentration in tap water (average 142 ppm) and deuterium depleted water (DDW) (30 ppm) on the development of two bodies of Vitis Vinifera genotypes. The deuterium content assessed on the leaves showed significant lower values (average 116 ppm) in both varieties, when the cutting organogenesis and growth of plantlets held in DDW. Majority of plantlet features were
Abstracts / Journal of Biotechnology 231S (2016) S4–S109
focused on SNPs previously assessed on several European populations: −1438G > A and −809A > G of the genes coding for 2A and D4 receptors for serotonin and dopamine, respectively. A total of 308 EDs patients and 96 unrelated healthy controls have been so far recruited. Preliminary results show a positive association between the two SNPs and BN diagnosis. http://dx.doi.org/10.1016/j.jbiotec.2016.05.293 The quality of some cheeses manufactured by traditional methods Adriana Morar ∗ , Kálmán Imre, Octavian Onci, Claudia Corina Sala Animal Production and Veterinary Public Health, Faculty of Veterinary Medicine, Banat’s University Agricultural Sciences and Veterinary Medicine “King Michael I of Romania” from Timisoara, Romania E-mail address: [email protected] (A. Morar). Cheese-making in different regions of Romania has an old tradition, especially in mountainous and sub mountainous areas. This study was carried out to analyze the chemical composition and microbiological quality of different types of cheeses: soft cheese (curd, whey cheese, bellow cheese), semisoft cheese (sheep soft cheese, teleme – sheep maturated brined cheese) and semihard cheese (yellow cheese), manufactured through traditional methods. A total of 15 cheese samples were collected from four agro-food markets. The chemical parameters analyzed were: moisture, dry matter, fat in dry matter, and sodium chloride content. The results revealed higher moisture content in four samples (26%) of cheese, five cheese samples (33%) had a lower content of fat-in-dry matter, and sodium chloride content exceeded in four samples (26%) of cheeses, when compared with the Romanian Standard Requirements. The variation of chemical parameters may be attributed to the chemical composition of milk and processing technology. All analyzed samples were negative for Salmonella spp. and Listeria monocytogenes. Coagulase-positive Staphylococci were detected in 11 samples (73.3%), at levels between 2 and 4.81 Log CFU/g, and three samples (20%) exceeded 4 Log CFU/g. These results should be carefully considered because Staphylococcus aureus at levels over 5 Log CFU/g is recognized as being able to produce amounts of enterotoxins which constitute a risk for human health. Escherichia coli was detected in four samples (26.6%) and ranged between 1.69 and 5.11 Log CFU/g. These findings reflect improper hygiene of some practices in the preparation of cheese sold in agro-food markets in Romania. http://dx.doi.org/10.1016/j.jbiotec.2016.05.294 Clinical characteristics and cytogenetic abnormalities of chromosome 22q11.2 syndrome: Results from thirteen patients with variable phenotypes Fatma Silan, Baris Paksoy ∗ , Ozturk Ozdemir Department of Medical Genetics, Canakkale Onsekiz March University, Faculty of Medicine, Turkey E-mail address: [email protected] (B. Paksoy). Chromosome 22, particularly band 22q11.2, is predisposed to rearrangements due to misalignments of low-copy repeats (LCRs). DiGeorge/Velocardiofacial Syndrome (DG/VCFS) is a common
disorder resulting from microdeletion but microduplications and inversions reported rarely. Here we report clinical characteristics and cytogenetic abnormalities of chromosome 22q11.2 syndrome for the 13 patients from 12 family. 4 patients with 22q11.2 deletion referred at newborn or childhood period, for congenital heart defects and dysmorphic facial abnormalities, convulsion, mental and motor retardation. 5 adult patients with duplication 22q11.2 referred for infertility, recurrent pregnancy loss (RPL) or premature menapouse (POF). Only one duplication case referred at childhood for short stature and underweight. One proband has a healthy-intelligent daughter carry same duplication. All duplication cases have normal intelligence, none of them has velocardiofacial insufficiency. Only one patient has high myopia. One case with duplication 22q11.3 has RPL. Inversion 22q11.21 case was referred because of short stature but her father also short stature and normal 22th chromosomes. Inversion 22q11.3 case was referred for infertility, he is tall (1.86 cm), he has attention deficit and hyperactivity. All patients examined for dysmorphic features, chromosomes evaluated by trypsin-GTG banding (550 band) and fluorescence in situ hybridization (FISH) technique after lymphocyte culture. Results showed deletion 22q11.2 cause variable dysmorphicclinical findings but duplications seems benign. The association between RPL history, infertility and POF and 22q11.2 duplication is the first report of the literature. Results also showed that all structural abnormalities in the chromosome 22 in the current probands were de novo mutations and not transmitted by their parents, but transmitted to the proband’s child. http://dx.doi.org/10.1016/j.jbiotec.2016.05.295 Effect of water deuterium content on plants development Diana Costinel 1,∗ , Roxana Elena Ionete 1 , Oana Romina Botoran 1 , Raluca Popescu 1 , Gallia Butnaru 2 1
National Research & Development Institute for Cryogenics and Isotopic Technologies – ICSI Rm., Valcea, Romania 2 Banat University of Agricultural Sciences and Veterinary Medicine Timisoara, Romania E-mail address: [email protected] (D. Costinel). The organogenesis of plants is influenced by the water deuterium concentration in plant tissues which is dependent by the plant species, age and tissue type. A study was performed on Vitis Vinifera plants grown in different environmental conditions and in laboratory, from 2009 to 2013. Water extracted from plants in various stages of development showed a concentration in heavy isotopes during plant evolution to maturity, from the early period when plants enter into vegetation. Deuterium content from the vine sap grape had values between 141 and 145 ppm (lower values in the cold spring of 2009 and 2013 compared to 2011 and 2012), increasing to the final product at 151÷154 ppm. In laboratory conditions, for one year, was conducted an investigation regarding influence of deuterium concentration in tap water (average 142 ppm) and deuterium depleted water (DDW) (30 ppm) on the development of two bodies of Vitis Vinifera genotypes. The deuterium content assessed on the leaves showed significant lower values (average 116 ppm) in both varieties, when the cutting organogenesis and growth of plantlets held in DDW. Majority of plantlet features were