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Journal articles on the topic 'Molecular gender determination'
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1
Shaw, Carla N., Paul J. Wilson, and Bradley N. White. "A RELIABLE MOLECULAR METHOD OF GENDER DETERMINATION FOR MAMMALS." Journal of Mammalogy 84, no. 1 (February 2003): 123–28. http://dx.doi.org/10.1644/1545-1542(2003)084<0123:armmog>2.0.co;2.
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Shahrul Hi, Z. A., S. Sahidan, M. A. W. Rohaya, M. Y. Siti Afeefah, Z. A. Intan Zari, J. A. N. Nor Hidaya, R. M. A. Nadiah, and Z. A. Zaidah. "Molecular Gender Determination of Ancient Human from Malay Peninsular." American Journal of Applied Sciences 6, no. 10 (October 1, 2009): 1770–75. http://dx.doi.org/10.3844/ajassp.2009.1770.1775.
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Horng, Yan-Ming, Chean-Ping Wu, Yng-Chyu Wang, and Mu-Chiou Huang. "A novel molecular genetic marker for gender determination of pigeons." Theriogenology 65, no. 9 (June 2006): 1759–68. http://dx.doi.org/10.1016/j.theriogenology.2005.10.011.
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Hedges, Dale J., Jerilyn A. Walker, Pauline A. Callinan, Jaiprakash G. Shewale, Sudhir K. Sinha, and Mark A. Batzer. "Mobile element-based assay for human gender determination." Analytical Biochemistry 312, no. 1 (January 2003): 77–79. http://dx.doi.org/10.1016/s0003-2697(02)00430-x.
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Hutchison, J. B., A. Wozniak, C. Beyer, M. Karolczak, and R. E. Hutchison. "Steroid metabolising enzymes in the determination of brain gender." Journal of Steroid Biochemistry and Molecular Biology 69, no. 1-6 (April 1999): 85–96. http://dx.doi.org/10.1016/s0960-0760(99)00057-6.
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Filipovic, Gordana, Julija Radojicic, Maja Stosic, P. Janosevic, and Zorica Ajdukovic. "Odontometric analysis of permanent canines in gender determination." Archives of Biological Sciences 65, no. 4 (2013): 1279–83. http://dx.doi.org/10.2298/abs1304279f.
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Vainer, Olga B., Aleksey V. Katokhin, Sergey M. Kustov, Valentin V. Vlassov, and Pavel P. Laktionov. "A New Y Chromosome Marker for Noninvasive Fetal Gender Determination." Annals of the New York Academy of Sciences 1137, no. 1 (August 2008): 157–61. http://dx.doi.org/10.1196/annals.1448.041.
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Khandka, Deepak K., Ali Nejidat, Moshe Tal, and Avi Golan-Goldhirsh. "RAPD Marker for Sex Determination of Dioecious Plants." HortScience 30, no. 4 (July 1995): 878F—878. http://dx.doi.org/10.21273/hortsci.30.4.878f.
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Several horticulturally important species are dioecious (e.g., pistachio, date palm, poplar, and others). It would be advantageous if the gender of a seedling could be determined at the vegetative stage. In this report, we present results of our search for molecular markers for sex differentiation in dioecious species. The method used was bulked segregant analysis of random amplified polymorphic DNA (RAPD) for sex. A male-specific marker fragment OPB01-1470 was obtained in Mercurialis annua. The sex linkage and characterization of this marker will be discussed.
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Bleher, R., W. Erwin, A. M. Paprocki, C. M. Syverson, R. Koppang, and B. A. Didion. "259 A RAPID, NON-PCR-BASED BOVINE EMBRYO BIOPSY SEXING ASSAY." Reproduction, Fertility and Development 21, no. 1 (2009): 227. http://dx.doi.org/10.1071/rdv21n1ab259.
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Sex determination of bovine embryos in conjunction with embryo transfer is an established method to maximize efficiency by producing offspring with the preferred gender. Present methodology for sexing embryos is based on PCR, which requires molecular laboratory equipment, trained personnel, and several hours before a result becomes known. We developed a simple, rapid, non-PCR procedure for identification of Y-chromosomes in bovine blastomeres recovered via biopsy. A biopsy (n = 5 to 8 blastomeres) was taken from a blastocyst-stage embryo and transferred onto a plastic slide. After drying and fixation, the cells were denatured and incubated with a peptide nucleic acid probe designed to target unique Y-chromosome specific sequence. The probe was conjugated to a fluorescent dye (CY-3) which enables Y-chromosome detection as a bright spot within blastomere nuclei when using a fluorescent microscope. The absence of signal indicates female embryonic DNA. From placement of the biopsy onto a plastic slide, the methodology required approximately 75 minutes to determine embryo gender. The accuracy of the biopsy sexing procedure was demonstrated by parallel gender determination of the same embryo using an established PCR method designed for the bovine amelogenin locus. Based on 18 in vitro-produced bovine embryos generating a result for both assays, there was a 94.4% match (17/18) of gender assignment. The present technology represents a simple alternative to PCR-based embryo sexing technology. Research is ongoing for future development of live embryo sexing determination.
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Allen, Caitilyn. "It's a Boy! Gender Expectations Intrude on the Study of Sex Determination." DNA and Cell Biology 26, no. 10 (October 2007): 699–705. http://dx.doi.org/10.1089/dna.2007.1501.
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Fujimura, Joan H. "Sex Genes: A Critical Sociomaterial Approach to the Politics and Molecular Genetics of Sex Determination." Signs: Journal of Women in Culture and Society 32, no. 1 (September 2006): 49–82. http://dx.doi.org/10.1086/505612.
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Adhikari, Sinchan, Soumen Saha, Tapas Kumar Bandyopadhyay, and Parthadeb Ghosh. "Identification and Validation of a New Male Sex-Specific ISSR Marker in Pointed Gourd (Trichosanthes dioicaRoxb.)." Scientific World Journal 2014 (2014): 1–6. http://dx.doi.org/10.1155/2014/216896.
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The aim of the present study was to develop a genetic sex marker for the pointed gourd (Trichosanthes dioicaRoxb.) to allow gender determination at any stage in the life cycle. Screening of genomic DNA with intersimple sequence repeat (ISSR) primers was used to discover sex-specific touch-down polymerase chain reaction (Td-PCR) amplification products. Using pooled DNA from male and female genotypes and 42 ISSR primers, a putative male specific marker (~550 bp) was identified. DNA marker specific to male is an indication of existence of nonepigenetic factors involved in gender development in pointed gourd. The ISSR technique has proved to be a reliable technique in gender determination of pointed gourd genotypes at the seedling phenophase. The sex marker developed here could also be used as a starting material towards sequence characterization of sex linked genes for better understanding the developmental as well as evolutionary pathways in sexual dimorphism.
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Gamulin, Ozren, Marko Škrabić, Kristina Serec, Matej Par, Marija Baković, Maria Krajačić, Sanja Dolanski Babić, Nikola Šegedin, Aziz Osmani, and Marin Vodanović. "Possibility of Human Gender Recognition Using Raman Spectra of Teeth." Molecules 26, no. 13 (June 29, 2021): 3983. http://dx.doi.org/10.3390/molecules26133983.
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Gender determination of the human remains can be very challenging, especially in the case of incomplete ones. Herein, we report a proof-of-concept experiment where the possibility of gender recognition using Raman spectroscopy of teeth is investigated. Raman spectra were recorded from male and female molars and premolars on two distinct sites, tooth apex and anatomical neck. Recorded spectra were sorted into suitable datasets and initially analyzed with principal component analysis, which showed a distinction between spectra of male and female teeth. Then, reduced datasets with scores of the first 20 principal components were formed and two classification algorithms, support vector machine and artificial neural networks, were applied to form classification models for gender recognition. The obtained results showed that gender recognition with Raman spectra of teeth is possible but strongly depends both on the tooth type and spectrum recording site. The difference in classification accuracy between different tooth types and recording sites are discussed in terms of the molecular structure difference caused by the influence of masticatory loading or gender-dependent life events.
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Mittova, Valentina O., Anna O. Khoroshikh, Olga V. Zemchenkova, Sergey V. Ryazantsev, Oleg V. Maslov, Elena V. Korzh, Lilia S. Ryasnaya-Lokinskaya, and Vladimir V. Alabovsky. "Gender differences in lipid metabolism." Kondensirovannye sredy i mezhfaznye granitsy = Condensed Matter and Interphases 23, no. 2 (June 4, 2021): 245–59. http://dx.doi.org/10.17308/kcmf.2021.23/3436.
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The search for early markers of atherosclerosis is an effective method for providing personalized medicine allowing the prevention of the progression of this pathology. The aim of this study was the determination of the total indices of dyslipidemia and the identification of the gender indices of the extended lipid profile in the population of residents of the Southern and Central Federal Districts (Voronezh, Belgorod, Lipetsk, Kursk and Rostov regions) for the identification of early markers of atherogenicity. In a simultaneous clinical study, involving 339 patients (mean age 48 years), the concentrations of total cholesterol, triglycerides, LDL (low density lipoproteins), HDL (high density lipoproteins), apolipoproteins B and A1, the ApoB/ApoA1 ratio and the atherogenic coefficient were determined. For the identification of the relationship between changes in lipid profile indicators with cytolysis syndrome and indicators of carbohydrate metabolism, the activity of ALAT (alanine aminotransferase), GGTP (gamma-glutamyl transpeptidase) and glucose contentwere also studied. Analysis of the results of the lipid spectrum of the population sample of the middle age group revealed significant metabolic disorders of lipid metabolism with a predominance of atherogenic lipid fractions and a significant excess of indicators of atherogenic lipid fractions in middle-aged men in comparison with women. It has been shown that the apoB/apoA1 index can be used as an auxiliary marker for early assessment of the prevalence of atherogenic lipid fractions, allowing the identification of risk groups for the development of diseases associated with metabolic disorders
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Dwarka, Arvin, Cynthia M. Ross Friedman, Mairi E. MacKay, and Don Nelson. "Polymerase chain reaction identification of a female-specific genetic marker in Arceuthobium americanum (lodgepole pine dwarf mistletoe) and its implications for Arceuthobium sex determination." Botany 89, no. 6 (June 2011): 369–77. http://dx.doi.org/10.1139/b11-025.
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In North America, the most widespread and speciose mistletoe is Arceuthobium M. Bieb. (dwarf mistletoes, Viscaceae), which is a dioecious parasite of conifers. Little is known about its sex determination system, and sex chromosomes have not been identified. A genetic marker for early gender discrimination in Arceuthobium would be useful in the study of sex ratios and sex determination. Here, random amplified polymorphic DNA analysis via the polymerase chain reaction (PCR) was used to investigate genetic differences between genders in Arceuthobium americanum Nutt. ex Engelm. collected near Kamloops, British Columbia and Bélair, Manitoba. A total of 196 10-mer primers were selected for analysis of DNA from isolated male and female A. americanum somatic tissue. A ∼900 bp female-specific DNA fragment was generated with primer OPB-18 (5′-CCACAGCAGT-3′). The fragment was cloned and sequenced. Using GenBank and the basic local alignment search tool alignment software, it was determined that the first ∼300 bp of this DNA sequence shared a high degree of similarity to transposable elements (76%) and a Y-chromosome (male) fragment (75%) in Silene latifolia Poir. Sequence-characterized amplified region primers were then designed. This study has generated an efficient molecular tool to differentiate male and female A. americanum while also providing evidence indicating that A. americanum may have homomorphic, possibly protoheteromorphic, sex chromosomes.
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Avise, John C., Alan J. Power, and DeEtte Walker. "Genetic sex determination, gender identification and pseudohermaphroditism in the knobbed whelk, Busycon carica (Mollusca: Melongenidae)." Proceedings of the Royal Society of London. Series B: Biological Sciences 271, no. 1539 (March 22, 2004): 641–46. http://dx.doi.org/10.1098/rspb.2003.2533.
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Filipovic, Gordana, Mirjana Janosevic, Predrag Janosevic, Julija Radojicic, Zorica Ajdukovic, and Olivera Trickovic-Janjic. "Palatal rugae patterns in the Serbian population." Archives of Biological Sciences 66, no. 3 (2014): 1131–34. http://dx.doi.org/10.2298/abs1403131f.
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Establishing the gender of a dead person is one of the main aspects in forensic medicine, especially in cases of massive disasters. Palatal rugae have been related with specific racial groups and are said to be useful in sex determination. One hundred pre-orthodontic plaster casts, equally distributed between males and females with an age range of 15-30 years, were examined for different rugae patterns by the Thomas classification. The total number of rugae was not significantly gender linked. According to size, the primary type of rugae was dominant in both males and females. Wavy and curved patterns of rugae were the most common, both in males and females. There was a significant sex difference in the circular and converging types which was higher in males and females, respectively.
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Spyroglou, Ariadni, Sibylle Sabrautzki, Birgit Rathkolb, Tarik Bozoglu, Martin Hrabé de Angelis, Martin Reincke, Martin Bidlingmaier, and Felix Beuschlein. "Gender-, strain-, and inheritance-dependent variation in aldosterone secretion in mice." Journal of Endocrinology 215, no. 3 (September 26, 2012): 375–81. http://dx.doi.org/10.1530/joe-12-0429.
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Arterial hypertension represents one of the most common diseases in developed countries and the rennin–angiotensin–aldosterone system is among the major factors in the regulation of blood pressure and sodium balance. With the exception of rare monogenetic diseases, however, inheritance of aldosterone secretion is widely unknown. In this study, we investigated the aldosterone levels in male and female mice of two inbred strains, C3HeB/FeJ and C57BL/6J, as well as their offspring of the F1 and F2 generation. In all cases, female animals displayed lower aldosterone levels than males. Furthermore, C57BL/6J animals had significantly higher aldosterone levels than C3HeB/FeJ mice of the same age and gender. Depending on the paternal origin of the animal, the F1 offspring showed a tendency toward higher aldosterone values when the paternal side was from the C57BL/6J strain. This observation was confirmed in the F2 generation and over repeated measurements over three consecutive years. Quantification of the aldosterone to renin ratio in the different mouse groups did not show any significant differences, and, similarly, the determination of plasma potassium and kidney parameters did not provide any differences. On the molecular level, investigation of the expression of the enzymes involved in steroidogenesis displayed the same trend as for the aldosterone values, with animals hosting C57BL/6J background in their paternal origin having also the highest expression levels for StAR, cyp11a1, and cyp11b2 enzymes. Taken together, we could demonstrate that the genetic background of the animals plays a significant role modulating their plasma aldosterone levels without clear interference of other parameters in the renin–angiotensin–aldosterone system.
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Vaňharová, Michaela, and Eva Drozdová. "Sex determination of skeletal remains of 4000 year old children and juveniles from Hoštice 1 za Hanou (Czech Republic) by ancient DNA analysis." Anthropological Review 71, no. 1 (January 1, 2008): 63–70. http://dx.doi.org/10.2478/v10044-008-0011-7.
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Sex determination of skeletal remains of 4000 year old children and juveniles from Hoštice 1 za Hanou (Czech Republic) by ancient DNA analysisThe aim of this study was to determine the sex by means of modern molecular genetic methods of children and immature individuals from the 4000 years old Eneolithic burial site "Hoštice 1 za Hanou" of the Bell-Beaker people, in central Moravia (Czech Republic). While the anthropological approach was in this case limited either by the state of preservation of the skeletal remains or simply by absence of definite morphological traits in the children, analysis of aDNA (SRY, amelogenin) yielded results consistent with archeological grave findings and body imposition. The burial rites of the investigated culture facilitated the analysis because the gender specific imposition of adults has previously been described (man left-side, head northwards, woman right-side, head southwards) However, this approach is often limited in case of children burials. This study showed high concordance between archeological sex-determination and genetic sex, but also revealed several exceptions in children burial rite of Bell Beaker culture.
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Eimanifar, Amin, John Aufderheide, Suzanne Z. Schneider, Henry Krueger, and Sean Gallagher. "Development of an in vitro diagnostic method to determine the genotypic sex of Xenopus laevis." PeerJ 7 (May 1, 2019): e6886. http://dx.doi.org/10.7717/peerj.6886.
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A genotypic sex determination assay provides accurate gender information of individuals with well-developed phenotypic characters as well as those with poorly developed or absent of phenotypic characters. Determination of genetic sex for Xenopus laevis can be used to validate the outcomes of Tier 2 amphibian assays, and is a requirement for conducting the larval amphibian growth and development assay (LAGDA), in the endocrine disruptor screening program (EDSP), test guidelines. The assay we developed uses a dual-labeled TaqMan probe-based real-time polymerase chain reaction (real-time PCR) method to determine the genotypic sex. The reliability of the assay was tested on 37 adult specimens of X. laevis collected from in-house cultures in Eurofins EAG Agroscience, Easton. The newly designed X. laevis-specific primer pair and probe targets the DM domain gene linked-chromosome W as a master female-determining gene. Accuracy of the molecular method was assessed by comparing with phenotypic sex, determined by necropsy and histological examination of gonads for all examined specimens. Genotypic sex assignments were strongly concordant with observed phenotypic sex, confirming that the 19 specimens were male and 18 were female. The results indicate that the TaqMan® assay could be practically used to determine the genetic sex of animals with poorly developed or no phenotypic sex characteristics with 100% precision. Therefore, the TaqMan® assay is confirmed as an efficient and feasible method, providing a diagnostic molecular sex determination approach to be used in the amphibian endocrine disrupting screening programs conducted by regulatory industries. The strength of an EDSP is dependent on a reliable method to determine genetic sex in order to identify reversals of phenotypic sex in animals exposed to endocrine active compounds.
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Whyte, J. J., E. D. Fountain, and C. S. Rosenfeld. "367 FLUORESCENT IN SITU HYBRIDIZATION FOR SEX DETERMINATION AT PROGRESSIVE STAGES OF FERTILIZATION AND DEVELOPMENT IN MICE." Reproduction, Fertility and Development 19, no. 1 (2007): 299. http://dx.doi.org/10.1071/rdv19n1ab367.
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In mice, relative numbers of male and female pups in a litter can not only vary but may change over the course of pregnancy in response to a range of environmental and physiological factors. The ability to determine the temporal nature of changes in gender ratios in mice has extrapolative value for agriculture, endangered species, and human applications. We have developed a robust and accurate fluorescent in situ hybridization (FISH) suite for visualization of X and Y chromosomes in sperm, pre- and post-implantation conceptuses, and dead/partially cannibalized pups with minimal modification for various samples. Epididymal sperm was collected from NIH Swiss males (n = 5; 15 weeks old) and prepared for FISH by using a modified microwave decondensation–denaturation technique. Pre-implantation embryos (0.5 dpc) collected from pregnant females (n = 9; 20 weeks old) were cultured to the morula stage to permit the development of several blastomeres for FISH analysis. They were then acid-treated to remove the zona pellucida and allowed to adhere to a single slide. Two pre-hybridization procedures, microwave decondensation–denaturation and pepsin digestion (100 �g mL-1 in 0.01 N HCl), were compared for efficacy. Cranial tissue homogenates in phosphate-buffered saline from post-implantation conceptuses (8.5 dpc) collected from pregnant females (n = 8; 20 weeks old) were fixed to pre-etched slides. To determine whether this procedure could be used on partially cannibalized or stillborn pups, 2 such litters with n = 7 pups from each were retrieved from NIH Swiss females. As the dams had cannibalized the caudal half of the pups, the sex of these could not be determined based on anogenital distance. A small sample of tissue from the remaining cranial region from each was prepared as above for XY FISH analysis, allowing genotypic sexing in pups that would otherwise be of undetermined gender. For each stage of development, slides were hybridized overnight with identical commercially available fluorescence-labeled DNA probes for the X (FITC) and Y (Cy3) chromosomes. Epididymal sperm ratios met the expected value of 0.5. Pepsin treatment of pre implantation embryos provided superior results over microwave decondensation with distinct fluorescence of X and Y chromosomes in morula. Mean sex ratios of 0.5 were determined for both 0.5 and 8.5 dpc embryos (n = 11 � 1 and 10 � 1 embryos per female, respectively). Sex determination in post-implantation embryos was confirmed by using 2 separate PCR analyses. The procedure was also successful in recovered postmortem pups and yielded 8 females and 6 males between the 2 litters. This technique may thus be used to detect selective post-natal mortality or cannibalism of one gender over the other. FISH analysis of sperm and multiple pre- or post-implantational embryos or postmortem pups provides a cost-effective and more accurate alternative to PCR-based sex determination. This technique may have potential for use in studies where offspring sex ratios have been influenced by external factors, but wherein the mechanism and stage at which the skewing occurs is uncertain.
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Muchtaromah, Bayyinatul. "AL-QUR'AN DAN MATERIAL GENETIK DALAM SEL KELAMIN PRIA PENENTU JENIS KELAMIN BAYI." ULUL ALBAB Jurnal Studi Islam 8, no. 2 (December 26, 2018): 141–62. http://dx.doi.org/10.18860/ua.v8i2.6200.
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In many verses of al-Qur'an, men are called to pay their attention to understand how they were created. Human creation and incredible aspects followed were strongly mentioned in many verses in detail until it's impossible for anyone who lived in the seventh century to recognize it. One of them was the information saying that the determinant of baby gender is the spermatozoa coming from men sperm. Allah said in his verse: "and that He (Allah) creates in pairs, male and female. From Nutfah (drops of semen male and female discharge) when it is emitted" (translation of al-Qur'an 53 verse 45-46). Branches of knowledge which have developed, such as Genetics and Molecular Biology, have proved scientifically the information accuracy which has been given by al-Qur'an. Nowadays it has been well-known that sex determination is determined by sperm of man and in fact women play no roles in this determination. If the ovum fuses with sperm which carries Y chromosome than the baby will be born as a male. Conversely, if the sperm carries X chromosome than the baby will be a female. In the other word, the sex of the baby is determined by the kind of man's sperm chromosome which fuses with women's ovum.
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Albalawi, Ibrahim A., Rashid Mir, and Fasel M. Abu-Duhier. "Molecular Evaluation of PROGINS Mutation in Progesterone Receptor Gene and Determination of its Frequency, Distribution Pattern and Association with Breast Cancer Susceptibility in Saudi Arabia." Endocrine, Metabolic & Immune Disorders - Drug Targets 20, no. 5 (May 31, 2020): 760–70. http://dx.doi.org/10.2174/1871530319666191125153050.
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Aims: Experimental and clinical evidence demonstrate that progesterone hormone and its nuclear receptor, the Progesterone Receptor (PR), play critical role in controlling mammary gland tumorigenesis and breast cancer development. Hormonal therapy (Tomaxifen) is the frontline treatment for hormone-dependent breast cancers. Progesterone hormone induces its action on the target cells by binding with its Progesterone receptor (PgR) therefore any genetic variations, which might induce alienation in the progesterone receptor, can result in an increased susceptibility of gynecological cancers. Alu insertion (PROGINS) mutation in PgR gene is reported to be associated with an increased risk of ovarian cancer and a decreased risk of breast cancer. However, its association with breast cancer risk remains inconclusive. Therefore, we investigated the association of PROGINS allele and its link with breast cancer risk. Methods: This case control study was performed on 200 subjects in which 100 were breast cancer cases and 100 gender matched healthy controls.The mutation was detected by using mutation specific PCR and results were confirmed by direct Sanger sequencing. Results: A clinically significant difference was reported in genotype distribution of PROGINs allele among the cases and gender-matched healthy controls (P<0. 032). Genotype frequencies of A1/A1, A1/A2, A2/A2 reported in cases was 81%, 19% (18% & 1%) and in matched healthy controls were 93%, 7% (6% & 1%). The higher frequency of PROGINs allele (19%) was observed in cases than the healthy controls (7%). The findings indicated that PgR variants (CC vs CT) increased the risk of Breast cancer in codominant inheritance model with OR= 3.44, 95% CI =1. 30-9.09, P<0.021) whereas nonsignificant association was found for CC vs TT genotypes with OR=1.14, 95% CI=0.07-18.658, P=0. 92. However, subgroup analysis revealed that CT + TT vs CC genotype increased the risk of breast cancer in dominant inheritance model tested OR = 3. 11, 95% CI = (1.24-7.79), P = 0.015). A nonsignificant association for PgR (CC+CT) vs TT) genotypes were reported in breast cancer OR = 1. 0, 95% CI= (0. 061-16.21), P=1) in recessive inheritance model tested. However, analysis with clinicalpathological variables revealed that the PROGINs allele is significantly associated with the distant metastasis and advanced stage of the disease. Conclusion: The mutation specific PCR was successfully developed as an alternative to Sanger sequencing for the cost-effective detection for PROGINS allele of progesterone receptor gene. A clinically significant correlation of PROGINs allele was reported with the distant metastasis and advanced stage of the disease. Taken together, these results demonstrated that PROGINS variant is associated with an increased susceptibility to Breast cancer, providing novel insights into the genetic etiology and underlying biology of Breast carcinogenesis. Further studies with large sample sizes are required to validate our findings.
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Wei, Suyun, Ning Ye, and Tongming Yin. "Detecting the Candidate Gender Determinants by Bioinformatic Prediction of miRNAs and Their Targets from Transcriptome Sequences of the Male and Female Flowers in Salix suchowensis." BioMed Research International 2017 (2017): 1–9. http://dx.doi.org/10.1155/2017/9614596.
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MicroRNAs (miRNAs) belong to a class of small, noncoding, and endogenous single-stranded RNAs that negatively regulate gene expression at the posttranscriptional level. Potential miRNAs can be identified based on sequence homology since miRNAs are highly conserved in plants. In this study, we aligned the expressed sequence tags derived from flower buds of male and female S. suchowensis to miRNAs in the miRBase, which enable us to identify 34 potential miRNAs from flower buds of the alternate sexes. Among them, 11 were from the female and 23 were from the male. Analyzing sequence complementarity led to identification of 124 and 55 miRNA targets in the male and female flower buds, respectively. By mapping the target genes of the predicted miRNAs to the sequence assemblies of S. suchowensis, a miR156 mediated gene was detected at the gender locus of willow, which was a transcription factor involved in flower development. It is noteworthy that this target is not expressed in male flower, while it is expressed fairly highly in female flower based on the transcriptome data derived from the alternate sexes of willows. This study provides new bioinformatic clue for further exploring the genetic mechanism underlying gender determination in willows.
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Yang, Wen, Xiaoning Liu, Kegang Wang, Jiabei Hu, Guohua Geng, and Jun Feng. "Sex Determination of Three-Dimensional Skull Based on Improved Backpropagation Neural Network." Computational and Mathematical Methods in Medicine 2019 (January 13, 2019): 1–8. http://dx.doi.org/10.1155/2019/9163547.
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Sex determination from skeletons is a significant step in the analysis of forensic anthropology. Previous skeletal sex assessments were analyzed by anthropologists’ subjective vision and sexually dimorphic features. In this paper, we proposed an improved backpropagation neural network (BPNN) to determine gender from skull. It adds the momentum term to improve the convergence speed and avoids falling into local minimum. The regularization operator is used to ensure the stability of the algorithm, and the Adaboost integration algorithm is used to improve the generalization ability of the model. 267 skulls were used in the experiment, of which 153 were females and 114 were males. Six characteristics of the skull measured by computer-aided measurement are used as the network inputs. There are two structures of BPNN for experiment, namely, [6; 6; 2] and [6; 12; 2], of which the [6; 12; 2] model has better average accuracy. While η = 0.5 and α = 0.9, the classification accuracy is the best. The accuracy rate of the training stage is 97.232%, and the mean squared error (MSE) is 0.01; the accuracy rate of the testing stage is 96.764%, and the MSE is 1.016. Compared with traditional methods, it has stronger learning ability, faster convergence speed, and higher classification accuracy.
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Popovski, Zoran, Karolina Kwasek, Michal Wojno, Konrad Dabrowski, and Macdonald Wick. "Identification and partial characterization of a sex specific protein in Koi carp (Cyprinus carpio haematopterus)." Acta Veterinaria 67, no. 2 (June 1, 2017): 285–91. http://dx.doi.org/10.1515/acve-2017-0023.
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Abstract Gender identification of fish species is carried out mainly by examining external morphological characteristics, which in general, it is very complex and not always a reliable approach. Electrophoresis of plasma proteins can be used as an alternative and useful molecular tool for a more precise sex determination. The presence of female specific proteins in the plasma is a starting point for the application of this technique. In this study, reducing discontinuous sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) was applied to analyze plasma proteins of male and female koi carp (Cyprinus carpio haematopterus). Image analyses of electrophoregrams with resolved plasma proteins by SDS-PAGE showed that it is an appropriate technique to discriminate male from female samples. It is based on the presence of apolipoprotein B-100 which can be used as a suitable marker. Further amino acid characterization of apolipoprotein B-100 confirmed that it is a specific protein for female individuals.
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Ambrozková, M., F. Dedryver, V. Dumalasová, A. Hanzalová, and P. Bartoš. "Determination of the cluster of wheat rust resistance genes Yr17, Lr37, and Sr38 by a molecular marker." Plant Protection Science 38, No. 2 (February 6, 2012): 41–45. http://dx.doi.org/10.17221/4849-pps.
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A translocation from Aegilops ventricosa carrying genes Yr17, Lr37 and Sr38 was verified in cultivars Hussar, Eureka, Torfrida, Renan, Rendezvous, Rapier and Brigadier by the molecular marker SCARSC-Y15. Of the cultivars recently registered in the Czech Republic, only the western European cultivars Corsaire, Apache, Complet and Bill possessed the translocation carrying Yr17, Lr37 and Sr38. Cultivars Corsaire, Apache, Bill and Complet were highly or medium resistant to yellow rust and leaf rust in 1999–2001 field trials at Prague-Ruzyně, although virulence to Yr17 was found in the 2001 virulence survey also in the Czech Republic. Cultivars Corsaire, Apache and Bill displayed an above average resistance to stem rust, whereas Complet was susceptible.
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Calistri, Daniele, Claudia Rengucci, Chiara Molinari, Enrico Ricci, Elena Cavargini, Emanuela Scarpi, Gian Luigi Milandri, et al. "Quantitative Fluorescence Determination of Long-Fragment DNA in Stool as a Marker for the Early Detection of Colorectal Cancer." Analytical Cellular Pathology 31, no. 1 (January 1, 2009): 11–17. http://dx.doi.org/10.1155/2009/847491.
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Background: A variety of molecular markers have been evaluated for the development of a non-invasive approach to the diagnosis of colorectal cancer. We aimed to validate the diagnostic accuracy, using the same threshold as in the previous pilot study, of fluorescent long DNA test as a relatively simple and inexpensive tool for colorectal cancer detection.Methods: A case-control study was conducted on 100 healthy subjects and 100 patients at first diagnosis of colorectal cancer. Human long-fragment DNA in stool was quantified by fluorescence primers and a standard curve and expressed in DNA nanograms.Results: We validated the 25-ng value, which emerged as the most accurate cut-off in the pilot study, obtaining 79% (95% CI, 71–87%) sensitivity and 89% (95% CI, 83–95%) specificity. Specificity was very high for all cut-off values (15–40 ng) analyzed, ranging from 78 to 96%. Sensitivity was only slightly lower, reaching 84% at the lowest cut-off and maintaining a good level at the higher values. Diagnostic potential was independent of gender, age and tumor site.Conclusion: Fecal DNA analysis is a non-invasive and fairly simple test showing high diagnostic potential. These characteristics, together with the small amount of stool required, make it potentially suitable to be used alongside or as an alternative to current non-invasive screening approaches. Our next step will be to validate these results in a large-scale cohort study of a screening population, which is needed prior to implementation into clinical practice.
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Rossi, Claudia, Ilaria Cicalini, Mirco Zucchelli, Maria di Ioia, Marco Onofrj, Luca Federici, Piero Del Boccio, and Damiana Pieragostino. "Metabolomic Signature in Sera of Multiple Sclerosis Patients during Pregnancy." International Journal of Molecular Sciences 19, no. 11 (November 14, 2018): 3589. http://dx.doi.org/10.3390/ijms19113589.
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Multiple sclerosis (MuS) is an autoimmune disease of the central nervous system characterized by neuroinflammation, neurodegeneration, and degradation of the myelin sheath. Epidemiological studies have shown that the female gender is more susceptible than the male gender to MuS development, with a female-to-male ratio of 2:1. Despite this high onset, women have a better prognosis than men, and the frequency of the relapsing phase decreases during pregnancy, while it increases soon after birth. Therefore, it is interesting to investigate hormonal fluctuations during pregnancy and whether they correlate with metabolic signatures. To gain a deeper inside into the biochemical mechanism of such a multifactorial disease, we adopted targeted metabolomics approaches for the determination of many serum metabolites in 12 pregnant women affected by MuS by mass spectrometry analysis. Our data show a characteristic hormonal fluctuation for estrogens and progesterone, as expected. They also highlight other interesting hormonal alterations for cortisol, corticosterone, 11-deoxycortisol, 4-androstene-3,17-dione, testosterone, and 17α-hydroxyprogesterone. Furthermore, a negative correlation with progesterone levels was observed for amino acids and for acylcarnitines, while an imbalance of different sphingolipids pathways was found during pregnancy. In conclusion, these data are in agreement with the characteristic clinical signs of MuS patients during pregnancy and, if confirmed, they may add an important tessera in the complex mosaic of maternal neuroprotection.
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Sipahi, Hande, Gozde Girgin, Fatma Inanici, Servet Ariogul, Gonul Sahin, and Terken Baydar. "Tryptophan degradation and neopterin levels by aging." Pteridines 24, no. 1 (June 1, 2013): 33–39. http://dx.doi.org/10.1515/pterid-2013-0008.
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AbstractIncreased neopterin concentrations and altered tryptophan degradation are observed in diseases concomitant with cellular immune activation. This may be involved in the pathogenesis of several age-related disorders such as neurodegenerative disorders, autoimmune diseases, cardiovascular system disorders and malignancies. Therefore, in the present study, the evaluation of immune system activation by determination of tryptophan degradation and serum neopterin levels was carried out in volunteers aged ≥65 and <65 years old. The kynurenine-to-tryptophan ratio was calculated to estimate indoleamine-(2,3)-dioxygenase (IDO) activity. Tryptophan levels in the elderly (53.1±1.6 μmol/L) were lower than individuals under 65 years (61.4±2.2 μmol/L), whereas kynurenine concentrations in geriatrics and adults were 5.0±0.2 μmol/L and 4.3±0.2 μmol/L, respectively (both p<0.05). The kynurenine-to-tryptophan ratio was also significantly higher in geriatrics (92.1±3.2) than adults (73.5±2.8) (p<0.05). Neopterin levels were slightly higher in geriatrics compared to adults under 65 years old (p>0.05). Effects of gender, smoking habit, pathology and drug use on measured parameters were also evaluated. In conclusion, our findings show that aging is associated with immune activation, and immune activation may be induced by the number of existing pathologies as well as the number of drugs used.
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Hanzalová, A., T. Sumíková, and P. Bartoš. "Determination of leaf rust resistance genes Lr10, Lr26 and Lr37 by molecular markers in wheat cultivars registered in the Czech Republic." Czech Journal of Genetics and Plant Breeding 45, No. 2 (July 1, 2009): 79–84. http://dx.doi.org/10.17221/28/2009-cjgpb.
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Twenty-seven winter wheat cultivars registered in the Czech Republic were tested by molecular markers for the presence of Lr26 and Lr37, and twenty-eight cultivars for the presence of Lr10. Gene Lr37 was determined in eleven cultivars, gene Lr10 in ten cultivars and gene Lr26 in four cultivars. Eight cultivars had combinations of two Lr genes, one cultivar possessed all the three Lr genes. The results of marker analyses were compared with multipathotype analysis which confirmed the presence of Lr26 but did not enable the verification of the presence of Lr10 and Lr37. Seedling resistance was compared with resistance of the studied cultivars in the field.
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Suzuki, Misa, Norihiro Nagai, Sakiko Minami, Toshihide Kurihara, Mamoru Kamoshita, Hideki Sonobe, Kazuhiro Watanabe, Hajime Shinoda, Kazuo Tsubota, and Yoko Ozawa. "Predicting recurrences of macular edema due to branch retinal vein occlusion during anti-vascular endothelial growth factor therapy." Graefe's Archive for Clinical and Experimental Ophthalmology 258, no. 1 (November 15, 2019): 49–56. http://dx.doi.org/10.1007/s00417-019-04495-9.
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Abstract Purpose To determine the predictive factors for recurrent macular edema due to branch retinal vein occlusion (BRVO) during intravitreal ranibizumab (IVR) monotherapy. Methods Clinical records were retrospectively reviewed for 65 patients (mean age 66.5 years, 65 eyes) who were diagnosed with macular edema due to BRVO and treated with IVR monotherapy for 12 months at the Medical Retina Division, Department of Ophthalmology, Keio University Hospital between October 2013 and August 2017. Best-corrected visual acuity (BCVA), fundus findings, and sectional optical coherence tomography (OCT) images were analyzed. Results Overall BCVA and central retinal thickness (CRT) improved (all p < 0.01). BCVA at 12 months was significantly worse in patients with recurrent macular edema (40 eyes [61.5%]) (p < 0.01) than in those without, while CRT decreased and was comparable in both groups at 12 months. Logistic regression analyses showed association of recurrence with disorganization of the retinal inner layer (DRIL) temporal to the fovea at baseline (odds ratio = 7.74; 95% confidence interval 1.62–37.08, p = 0.01), after adjusting for age, gender, and initial CRT. Conclusion Recurrent macular edema due to BRVO affects visual outcome and is associated with initial DRIL temporal to the fovea, evaluated using OCT sectional images before treatments. DRIL may facilitate determination of follow-up schedules in clinical practice.
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Dungan, Jennifer R., Yvette P. Conley, Taimour Y. Langaee, Julie A. Johnson, Shawn M. Kneipp, Philip J. Hess, and Carolyn B. Yucha. "Altered Beta-2 Adrenergic Receptor Gene Expression in Human Clinical Hypertension." Biological Research For Nursing 11, no. 1 (March 1, 2009): 17–26. http://dx.doi.org/10.1177/1099800409332538.
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Objectives: The beta-2 adrenergic receptor is involved in mediating vasodilatation via neurohumoral and sympathetic nervous system pathways. Alterations in beta-2 adrenergic receptor gene expression (mRNA transcription) may contribute to the hypertensive phenotype. Human gene expression in clinical phenotypes remains largely unexplored due to ethical constraints involved in obtaining human tissue. We devised a method to obtain normally discarded internal mammary artery tissue from coronary artery bypass graft patients. We then investigated differences in hypertensive and normotensive participants' beta-2 adrenergic receptor gene expression in this tissue. Methods: We collected arterial tissue samples from 46 coronary artery bypass patients in a surgical setting. Using 41 of the samples, we performed TaqMan real-time polymerase chain reaction (RT-PCR) and used the delta delta cycle threshold (ΔΔCt) relative quantitation method for determination of fold-differences in gene expression between normotensive and hypertensive participants. The beta-2 adrenergic receptor target was normalized to glyceraldehyde-phosphate dehydrogenase. Results: Participants with hypertension had significantly less-expressed beta-2 adrenoceptor gene (2.76-fold, p < .05) compared to normotensive participants. After Bonferroni correction, gene expression did not differ by race, gender, type/dose of β-blocker prescribed, positive family history of hypertension, or diagnosis of diabetes mellitus type 2. Conclusions: These data support the possibility of a molecular basis for impaired adrenoceptor-mediated vascular tone in hypertension. Modification and extension of this research is required.
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Cho, Jinkyung, Inhwan Lee, and Hyunsik Kang. "ACTN3 Gene and Susceptibility to Sarcopenia and Osteoporotic Status in Older Korean Adults." BioMed Research International 2017 (2017): 1–8. http://dx.doi.org/10.1155/2017/4239648.
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Background. Little information is available about molecular markers for sarcopenia and osteoporosis in Asian populations. Objective. This study investigated the association of the ACTN3 polymorphism with sarcopenia and osteoporotic status in older Korean adults. Methods. Older Korean 62 men and 270 women (mean age 73.7 ± 6.6 years) participated in this study. Body mass index, percent body fatness, appendicular skeletal muscle mass, and bone mineral density of the lumbar spine, femur, and total body were analyzed with dual-energy X-ray absorptiometry. ACTN3 R/X genotyping was determined using TaqMan probes. Results. Determination of odds ratios (ORs) and 95% confidence intervals (CIs) using binary logistic regression analyses showed that XX homozygotes were at a significantly higher risk of sarcopenia (OR=2.056, 95% CI=1.024–4.127, p=0.043) and osteoporosis (OR=2.794, 95% CI=1.208–5.461, p=0.016) than RR homozygotes (reference group, OR=1). The OR of XX homozygotes for having sarcopenia remained significant (OR=2.237, 95% CI=1.044–4.836, p=0.038) after adjustments for age, gender, body fatness, and serum vitamin D. The OR of XX homozygotes for having osteoporosis was no longer significant (OR=2.682, 95% CI=0.960–7.942, p=0.075) after adjustments for the covariates. Conclusion. Our findings suggest that the ACTN3 R577X genotype may influence decline in muscle and bone health phenotypes in older Korean adults.
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Barraco, Daniela, Terra L. Lasho, Kebede H. Begna, Naseema Gangat, Christy Finke, Curtis A. Hanson, Rhett P. Ketterling, Animesh Pardanani, and Ayalew Tefferi. "Molecular Correlates of Anemia in Primary Myelofibrosis." Blood 126, no. 23 (December 3, 2015): 4068. http://dx.doi.org/10.1182/blood.v126.23.4068.4068.
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Abstract Background : Anemia is one of the most prominent symptoms in primary myelofibrosis (PMF) and is often associated with inferior quality of life and survival. Current drugs, including JAK inhibitors, are suboptimal in the treatment of PMF-associated anemia and better information on its pathogenesis is critical for the development of more effective drugs. In the current study of JAK2/CALR/MPL annotated patients with PMF, we examined its correlation with both "driver" and "non-driver mutations", as well as cytogenetic abnormalities, in order to gain better insight into its pathogenesis. Methods: Study patients were selected based on availability of "driver" mutation information. PMF diagnosis was according to World Health Organization criteria (Blood. 2009;114:937). Previously published methods were used for CALR, JAK2 and MPL mutation analyses and determination of CALR variants (Blood. 2014;124:2465). Considering their relatively high mutational frequency in PMF, subsets of patients were also screened for ASXL1, spliceosome component (SF3B1, U2AF1, SRSF2, ZRSR2) and TET2 mutations. Cytogenetic analysis and reporting was done according to the International System for Human Cytogenetic Nomenclature. Statistical analyses considered clinical and laboratory parameters obtained at time of first referral at the Mayo Clinic. Results : Analysis was conducted on 722 patients (median age 64 years; 64% males). DIPSS-plus risk distribution was 14% low, 17% intermediate-1, 37% intermediate-2 and 33% high. All patients were annotated for JAK2/CALR/MPL mutations as well as CALR variants; 477 harbored JAK2, 139 CALR and 41 MPL mutations; 65 patients were triple-negative. The 139 CALR -mutated patients included type 1/type 1-like (n =115) and type 2/type 2-like (n =24). Non-driver mutations screened included ASXL1 (n =480; mutated 38%), SRSF2 (n =474; mutated 14%), U2AF1 (n =457; mutated 16%), SF3B1 (n =328; mutated 8%), ZRSR2 (n =180; mutated 11%) and TET2 (n =180; mutated 18%). Karyotype was normal in 60%, favorable in 28% and unfavorable in 12%. Anemia was defined as being absent (normal sex-adjusted hemoglobin level; n =110; 15%), mild (hemoglobin level of ≥10 g/dL but below sex-adjusted normal value; n =263; 36%), moderate (hemoglobin level below 10 g/dL but not transfusion-dependent; n =108; 15%) and severe (transfusion-dependent anemia; n =241; 33%). Presence of at least mild anemia was associated with abnormal karyotype (p=0.006) with no difference between favorable and unfavorable abnormalities, U2AF1 (p=0.002), TET2 (p=0.02) and ASXL1 (p=0.04) mutations; other significant associations included male sex and older age. Presence of moderate to severe anemia was associated with U2AF1 (p<0.0001), SRSF2 (p=0.007) and driver mutations other than CALR type 1/type 1-like (p<0.0001). Presence of severe anemia was associated with U2AF1 (p<0.0001), SRSF2 (p=0.003) and non-CALR driver mutations (17% incidence in both types of CALR variants vs 51% in triple negative, 35% JAK2, 39% MPL mutated cases; p<0.0001). An association with older age but not gender was also noted for both moderate to severe and severe anemia (p<0.0001). During multivariable analysis, independent associations with moderate to severe anemia were confirmed for U2AF1 (p<0.0001), SRSF2 (p=0.007) and age (p=0.0001), but not driver mutation profile (p=0.30). A similar analysis for severe anemia also identified U2AF1, SRSF2 and age as being significantly relevant. Conclusions : The current study identifies older age and the spliceosomal mutations U2AF1 and SRSF2 as having strong and independent association with moderate to severe anemia in PMF. Targeting the spliceosome machinery or its mutant components offers a potential approach in the treatment of PMF-associated anemia. Disclosures Pardanani: Stemline: Research Funding.
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Khaliduzzaman, Alin, Ayuko Kashimori, Tetsuhito Suzuki, Yuichi Ogawa, and Naoshi Kondo. "Chick Embryo Growth Modeling Using Near-Infrared Sensor and Non-Linear Least Square Fitting of Egg Opacity Values." Sensors 20, no. 20 (October 17, 2020): 5888. http://dx.doi.org/10.3390/s20205888.
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Non-destructive monitoring of chick embryonic growth can provide vital management insights for poultry farmers and other stakeholders. Although non-destructive studies on fertility, hatching time and gender have been conducted recently, there has been no available method for embryonic growth observation, especially during the second half of incubation. Therefore, this work investigated the feasibility of using near-infrared (NIR) sensor-based egg opacity values—the amount of light lost when passing through the egg—for indirectly observing embryo growth during incubation. ROSS 308 eggs were selected based on size, mass and shell color for this experiment. To estimate the embryo size precisely, we fit various mathematical growth functions during incubation, based on the opacity value of incubated eggs. Although all the growth models tested performed similarly in fitting the data, the exponential and power functions had better performances in terms of co-efficient of determination (0.991 and 0.994 respectively) and RMSE to explain embryo growth during incubation. From these results, we conclude that the modeling paradigm adopted provides a simple tool to non-invasively investigate embryo growth. These models could be applied to resolving developmental biology, embryonic pathology, industrial and animal welfare issues in the near future.
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Almazyad, Mazyad Jamal, Aisha S. Alwehaib, and Salem Alshemmari. "Profile of Myeloproliferative Neoplasms in Kuwait: Population-Based Study." Blood 134, Supplement_1 (November 13, 2019): 5373. http://dx.doi.org/10.1182/blood-2019-128536.
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Introduction Myeloproliferative neoplasms (MPNs) are a group of hematopoietic disorders of stem-cell origin, characterized by mutations that disrupt hematopoietic signal-transduction pathways. The Middle East lacks an MPN registry representative of the disease in our area. Here we report on the epidemiology of these neoplasms in our area, including phenotype, clinical features and relevant outcomes. Methods This population-based study reports various demographic characteristics and clinical attributes of all suspected and confirmed MPN patients from all over Kuwait referred to the research hematology lab at Kuwait University & cytogenetic lab in Kuwait Cancer Control Centre (KCCC) during the period from 2007 to 2018. Molecular determination of the patients' driver mutation status currently relies on ARMS-PCR. Confirming a diagnosis follows the WHO criteria, and its refinements, for the diagnosis of MPNs. Data entry and analysis was performed using SPSS (v.22) software. Results Most patients are ≥ 40 years old (79.8%), with a median age of 55 years. Gender distribution is almost equal, with ethnic categorization as Kuwaiti and Non-Kuwaiti showing a similar pattern. ET is the most common diagnosis (40.1%), followed by PRV (32.3%). JAK2 V617F mutation is reported positive in 89.7% of cases, followed by CALR in 8.0% of MPNs. The incidence of MPNs ranged from 0.5 to 2.1 per 100,000 in 2007 through 2018. The lowest rate was recorded in 2007 (0.511) and the highest was observed in 2011 and 2016 (2.417 and 2.101, respectively). The increase in 2011 is likely due to the introduction of a more sensitive technique using ARMS-PCR for the diagnosis of MPNs, whereas the increase in 2017 may be explained by the publication of WHO 2016 modified criteria. Moreover, throughout the years, the distribution of MPNs in different age groups showed similar pattern, with the highest incidence in patients aged ≥ 60. Driver mutations can fit with a general increase in incidence from 2007-2017, which may be attributed to increased awareness among treating physicians asking suspected cases to screen for MPNs using molecular techniques.One hundred and twenty-four (18.5%) cases were documented to have a prior history of thrombosis, with roughly equal distribution between arterial and venous sites. A large proportion (89.5%) of the thrombotic events occurred in those who are ≥ 40 years old, with most events being associated with ET (34.7%) and PRV (33.1%). Almost one-third of cases of thrombosis were associated with undetermined MPN diagnosis. Participating patients were categorized as either low or high risk for thrombotic events, with the latter being defined as age ≥ 55 years and the presence of a previous thrombotic event. The results demonstrate that a total of 46 cases were defined as high risk, most of them being associated with ET (20 cases) and PRV (19 cases). A statistically significant association was reported between gender and site of occurrence of thrombotic events, with males having more arterial thromboses, and females were documented to have more venous thromboses. Conclusion JAK2 V617F driver mutation is the most common positive finding in the participating patients. Roughly one-fifth of the participants encountered thrombotic events, and the site of thrombosis is associated with gender, demonstrating statistical significance. These results should warrant a more thorough evaluation of MPNs in Kuwait to provide a better understanding of its epidemiology. This can be achieved through optimized documentation of patients' data, and testing for additional novel driver mutations and transformation; as well as encourage physicians in primary care centers to refer suspected cases for molecular diagnosis. Disclosures No relevant conflicts of interest to declare.
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Sim, Edmund Ui-Hang, and Su-Hie Ting. "Patterns and Determinants of Attitudes towards Genetic Risk of Cancer: Case Study in a Malaysian Public University." BioMed Research International 2018 (July 19, 2018): 1–7. http://dx.doi.org/10.1155/2018/4682431.
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Genetic risk to cancer is a knowledge largely confined to experts and the more educated sectors of the developed western countries. The perception of genetic susceptibility to cancer among the masses is fragmented, particularly in developing countries. As cancer diseases affect developing countries as much as developed nations, it is imperative to study perception and reception of genetic risk to cancer in Southeast Asia. Here, we report on a novel case study to gauge the awareness and attitudes towards genetic determination of cancer among the undergraduates of a Malaysian public university. A total of 272 university undergraduate students completed an online questionnaire. On causes of cancer, the respondents believed that cancer is caused by lifestyle and environmental factors, but those with science background were more likely to associate it with genetic factors. The results on awareness of genetic profiling of cancer risk showed that there are significant differences between those with science and nonscience background but there are no significant differences for gender and socioeconomic background. As for attitudes towards cancer risk, female respondents, those from middle socioeconomic status and science background, are more likely to believe in genetic determinism of cancer. The findings have implications on target population segmentation in strategic health communication on cancer.
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Santiago, Llipsy, Iratxe Uranga-Murillo, Maykel Arias, Andrés Manuel González-Ramírez, Javier Macías-León, Eduardo Moreo, Sergio Redrado, et al. "Determination of the Concentration of IgG against the Spike Receptor-Binding Domain That Predicts the Viral Neutralizing Activity of Convalescent Plasma and Serum against SARS-CoV-2." Biology 10, no. 3 (March 10, 2021): 208. http://dx.doi.org/10.3390/biology10030208.
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Several hundred millions of people have been diagnosed of coronavirus disease 2019 (COVID-19), causing millions of deaths and a high socioeconomic burden. SARS-CoV-2, the causative agent of COVID-19, induces both specific T- and B-cell responses, being antibodies against the virus detected a few days after infection. Passive immunization with hyperimmune plasma from convalescent patients has been proposed as a potentially useful treatment for COVID-19. Using an in-house quantitative ELISA test, we found that plasma from 177 convalescent donors contained IgG antibodies specific to the spike receptor-binding domain (RBD) of SARS-CoV-2, although at very different concentrations which correlated with previous disease severity and gender. Anti-RBD IgG plasma concentrations significantly correlated with the plasma viral neutralizing activity (VN) against SARS-CoV-2 in vitro. Similar results were found using an independent cohort of serum from 168 convalescent health workers. These results validate an in-house RBD IgG ELISA test in a large cohort of COVID-19 convalescent patients and indicate that plasma from all convalescent donors does not contain a high enough amount of anti-SARS-CoV-2-RBD neutralizing IgG to prevent SARS-CoV-2 infection in vitro. The use of quantitative anti-RBD IgG detection systems might help to predict the efficacy of the passive immunization using plasma from patients recovered from SARS-CoV-2.
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Machado, G. M., C. R. Laender, M. M. Franco, L. O. Leme, R. Rumpf, and M. A. N. Dode. "132 POST-HATCHING BOVINE EMBRYO DEVELOPMENT IN VITRO: RELATIONSHIP BETWEEN SEX AND SIZE." Reproduction, Fertility and Development 20, no. 1 (2008): 146. http://dx.doi.org/10.1071/rdv20n1ab132.
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In vitro post-hatching embryos culture is a procedure that allows the establishment of more accurate tools for evaluating embryo developmental potential without the need of transferring them to recipient animals (Vejlsted et al. 2006 Theriogenology, 65, 153–165). It is well established that in the in vitro embryo production (IVP) technique, the sex ratio is imbalanced in favor of male embryos. The difference in sex ratio observed in the blastocyst stage at day 7 may be attributed to a variety of factors including developmental speed. However, whether or not this difference in sex ratio and speed of development continues after hatching is not known. The objective of this study was to evaluate post-hatching embryonic development until day 11 after in vitro fertilization (day 0) associating embryo size and gender. A total of 468 oocytes, obtained from abattoir-derived ovaries, were used. They were matured, fertilized, and cultured in vitro for 8 days in synthetic oviduct fluid medium (SOF Nutricell�) and incubated at 39�C in 5% CO2 in air. Degenerated embryos on day 8 and non-hatching embryos on day 9 were removed from culture droplets, and only hatched blastocysts were kept. Then, embryos were measured using a graduated ocular and post-hatching development (PHD) medium (Brand�o et al. 2005 Biol. Reprod. 71, 2048–2055) was added in each well, being the final medium 1:1 of SOF:PHD. On day 11, the embryos were evaluated under stereomicroscope and only morphologically normal blastocysts were measured and frozen at –80�C, for gender diagnosis. The DNA from frozen samples was extracted with trizol reagent, sodium citrate solution (0.1 m), and ethanol. Sex embryos determination was performed by PCR and visualized in 2% agarose gel. Data were analyzed using the Mann-Whitney test. The results show that the majority (69%) of the embryos that reached blastocyst stage at day 7 developed in the PHD system until day 11. From the initial oocytes, 144 embryos (30.1%) and 146 (31.1%) embryos had reached the blastocyst stage at days 7 and 8, respectively. At day 9, 89 (19%) embryos were hatched and 65 embryos (13.9%) developed until day 11, of which only 48 embryos (73.8%) had a clear trophoblast. No difference (P > 0.05) in the percentage of male and female embryos was observed when embryos were evaluated at day 11 of culture. In addition the mean size was similar (P > 0.05) for female (467.24 � µm, n = 19) and male (478.84 � 190.21 µm, n = 29) embryos. The results suggest that after post-hatching culture the differences in sex ration and in gender development in IVP bovine embryos are not evident. The development until day 11 showed that post-hatching in vitro culture of bovine blastocyst can be used for embryo evaluation in later phase of development However, several questions still remain to be investigated regarding post-hatching culture of bovine blastocysts before it can be used as a tool to evaluate in vitro embryos. Supported by Embrapa and UnB, Brazil.
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Rincón Alarcón, Adriana Carolina, Nancy Ximena Gusñay Ramírez, and Valeria Isabel Rodríguez Vinueza. "CANNABINOID BASED CHEMO-NANOTHERAPY FOR THE TREATMENT OF GYNECOLOGICAL MALIGNANCIES." Anales de la Real Academia Nacional de Farmacia, no. 86(02) (2020): 125–31. http://dx.doi.org/10.53519/analesranf.2020.86.02.04.
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The objective of this investigation was the determination of therapeutic adherence in patients with chronic diseases of theclub of older adults of a primary care center in Riobamba-Ecuador, for which 25 patients participated with prior informedconsent. An indirect subjective method was used, based on a questionnaire aimed at determining the sociodemographic characteristics of the patients, degree of therapeutic adherence through the Morisky Green test and possible influencingfactors on adherence, considered the 4 main dimensions established by the WHO.SPSS-PC 24.5 for Windows and significance levels of 0.05 % were used for results analysis. The results showed a predo-minance of female gender (80 %), an average age of 70.2 years and a degree of primary education in 60 % of thepatients. It was identified that 56 % of the patients suffered from at least two chronic diseases, with hypertension beingthe most prevalent (84 %); and 64 % of them administered 2 to 3 medications daily. It was determined that 64 % ofolder adults were inadherent with the prescribed therapeutic scheme, finding that socioeconomic factors had a total impacton the study patients. Factors related to the health team, therapy, and those inherent to the patient, influenced therapeuticadherence in a lesser proportion. The economic insufficiency to pay for the medications and the high-cost diets prescribed,turned out to be the variable with the greatest impact on therapeutic non-adherence, finding a direct relationship withthe degree of primary education that the study patients had mostly. In addition, all the variables reported in the study ascauses of non-adherence to treatment require directing actions aimed at strengthening a health system based on healthpromotion and prevention, in order to increase the quality of life of patients.
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Liu, LiLi, YanQin Lu, QianQian Bi, Wang Fu, XiaoYu Zhou, and Jue Wang. "Effects of Different Intervention Time Points of Early Rehabilitation on Patients with Acute Ischemic Stroke: A Single-Center, Randomized Control Study." BioMed Research International 2021 (August 28, 2021): 1–7. http://dx.doi.org/10.1155/2021/1940549.
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Objective. To investigate effects of different intervention time points of early rehabilitation on patients with acute ischemic stroke. Methods. We enrolled patients diagnosed with acute ischemic stroke in our hospital’s rehabilitation ward from November 2013 to December 2015. Patients were randomly assigned to an ultraearly rehabilitation program (started within 72 hours of onset) or an early rehabilitation program (started from 72 hours to 7 days after onset). The efficacy was assessed by the NIH Stroke Scale (NIHSS) International, Barthel Index, and Fugl-Meyer Assessment at one and three months after rehabilitation. Data were analyzed by variance analysis of two-factor repeated measurement. Covariance analysis was used to adjust confounding factors for the determination of statistical differences. Results. 41 patients were enrolled in the ultraearly rehabilitation group, while 45 patients were in the early rehabilitation group. There were no differences between the two groups at baseline data. Compared with the early rehabilitation group, patients in the ultraearly rehabilitation group have significantly improved NIHSS score, BMI score, and FMA score at one month and three months ( P < 0.001 ). After adjusting for confounding factors (gender, age, severity of NIHSS score, location of stroke, hypertension, diabetes, atrial fibrillation, and coronary heart disease), the significant difference still existed between the two groups at one month and three months ( P < 0.001 ). Conclusion. Our study indicated a higher efficacy in the ultraearly rehabilitation group than the early rehabilitation group. The result suggests an important practical significance in favor of the clinical treatment of stroke.
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Gervain, Judit. "Magyarországi C-vírus-hepatitises betegek vírustípus- és szubtípusmegoszlásának elemzése." Orvosi Hetilap 159, Supplement 2 (May 2018): 2–8. http://dx.doi.org/10.1556/650.2018.31177.
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Introduction: Hepatitis C virus (HCV) shows great structural variability. Based on genome sequencing and phylogenetical analysis, 7 types and 67 subtypes can be differentiated with varying geographical distribution. It is very important to determine the HCV type/subtype prior to starting direct antiviral therapy (DAA), which has been available since 2014, because the type, dose and optimal length of medication depends on these. Aim: In Hungary, the treatment of chronic HCV patients started in 1992 with the relevant special diagnostic tests being carried out in our Molecular Diagnostic Laboratory. Determination of the nucleotide sequence of the Hungarian HCV1b NS5A/PKR-BR region and the type and subtype distribution of Hungarian patients have already been carried out. The current summary discusses the results of 6092 chronic HCV patients (175 serotypes, 5917 genotypes) based on age, gender, regions and genotype distribution changes over the period between 1996 and 2017. Method: Serotyping (1996–1999). Genotyping: hybridization (2000–2016), real-time PCR (2016–; Cobas 4800 HCV GT). Results: Genotype distribution: GT1a: 5.6%; GT1b: 84.6%; GT1a + 1b: 5.1%; GT2: 0.1%; GT3: 1.8%; GT4: 0.1%; mixed: 1.6%; GT1 (non-differentiated subtype): 1,1%. Women/men ratio: 52%/48%. The most common age category is 50–60 years (37% of all cases). There was no genotype asymmetry among the four Hungarian regions and Budapest. Over time, the prevalence of genotype 3 increased from 1.6% to 2.8% and the number of patients under the age of 40 doubled. Conclusion: There have been no substantial changes in the HCV type/subtype distribution in Hungary over the past 20 years, 1b remaining the most common. The introduction of real-time PCR method for genotyping has resulted in a major quality improvement including only a few mixed subtype results leading to more efficient drug selection. Orv Hetil. 2018; 159(Suppl 2): 2–8.
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Dernis, E., R. Said-Nahal, M.-A. D’Agostino, P. Aegerter, M. Dougados, and M. Breban. "Recurrence of spondylarthropathy among first-degree relatives of patients: a systematic cross-sectional study." Annals of the Rheumatic Diseases 68, no. 4 (April 15, 2008): 502–7. http://dx.doi.org/10.1136/ard.2008.089599.
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Objective:To examine the recurrence of manifestations belonging to the spectrum of spondylarthropathy (SpA) in first-degree relatives of patients with SpA, and to estimate the recurrence risk ratio.Methods:Parents and siblings of consecutive SpA probands have been thoroughly investigated, including clinical data collection, pelvic x ray and human leukocyte antigen (HLA)-B27 status determination. The diagnosis of SpA was made according to European Spondylarthropathy Study Group and/or the Amor criteria. The recurrence risk ratio λ1, which gives an estimate of the weight of genetic factors, was calculated as the ratio of the recurrence risk of SpA in first-degree relatives compared with the population prevalence of SpA. The λnon-HLA was obtained by similar calculations restricted to HLA-B27+ individuals.Results:Most manifestations of SpA were more frequent among the 157 HLA-B27+ relatives of 83 probands than among their 111 HLA-B27- relatives. A diagnosis of SpA was made in 50 relatives of 31 (37%) probands. Recurrence was very similar between parents and siblings, without gender difference, resulting in overall recurrence risk of 12% in first-degree relatives and of 22.7% in HLA-B27+ relatives. The λ1 value was 40 and the λnon-HLA value was 6.5, very close to the λHLA value of 6.25 estimated from linkage study in SpA.Conclusions:A similar recurrence risk of SpA was observed between parents and siblings, consistent with a model of inheritance with no dominance variance and without sex influence. The weight of the non-HLA genetic component was equivalent to that estimated for the HLA locus, and fitted a model of multiplicative interaction between HLA and non-HLA genetic components.
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Fink, Bernhard, Karl Grammer, Philipp Mitteroecker, Philipp Gunz, Katrin Schaefer, Fred L. Bookstein, and John T. Manning. "Second to fourth digit ratio and face shape." Proceedings of the Royal Society B: Biological Sciences 272, no. 1576 (August 17, 2005): 1995–2001. http://dx.doi.org/10.1098/rspb.2005.3179.
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The average human male face differs from the average female face in size and shape of the jaws, cheek-bones, lips, eyes and nose. It is possible that this dimorphism is determined by sex steroids such as testosterone (T) and oestrogen (E), and several studies on the perception of such characteristics have been based on this assumption, but those studies focussed mainly on the relationship of male faces with circulating hormone levels; the corresponding biology of the female face remains mainly speculative. This paper is concerned with the relative importance of prenatal T and E levels (assessed via the 2D : 4D finger length ratio, a proxy for the ratio of T/E) and sex in the determination of facial form as characterized by 64 landmark points on facial photographs of 106 Austrians of college age. We found that (i) prenatal sex steroid ratios (in terms of 2D : 4D) and actual chromosomal sex dimorphism operate differently on faces, (ii) 2D : 4D affects male and female face shape by similar patterns, but (iii) is three times more intense in men than in women. There was no evidence that these effects were confounded by allometry or facial asymmetry. Our results suggest that studies on the perception of facial characteristics need to consider differential effects of prenatal hormone exposure and actual chromosomal gender in order to understand how characteristics have come to be rated ‘masculine’ or ‘feminine’ and the consequences of these perceptions in terms of mate preferences.
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Piszcz, Jaroslaw, Janusz Kloczko, Agnieszka Rudy, Eliza Blusiewicz, Dorota Lemancewicz, and Katarzyna Mazgajska-Barczyk. "The Assessment of Anti HSP70 Antibodies in Patients with Chronic Lymphocytic Leukaemia." Blood 108, no. 11 (November 16, 2006): 4967. http://dx.doi.org/10.1182/blood.v108.11.4967.4967.
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Abstract Background: Chronic lymphocytic leukaemia (CLL) is a one of the disease in which processes of proliferation and apoptosis are seriously altered. It has been intensely studied in the recent years in order to understand the mechanisms of neoplastic development. Hsps or heat shock proteins are molecular chaperones involved in a number of cellular functions in stress conditions. Feng et al. (2002) have reported that heat-stressed apoptotic 12B1-D1 leukaemia cells (BCR-ABL(+)) express HSP70 on their surface. It has also been suggested that an increased surface expression of heat shock proteins on apoptotic tumour cells results in the generation of potent antitumour T-cell responses. Anti Hsp70 antibodies are known to play a role in immunological and neoplastic processes. However their significance in CLL has not been well documented. Aims: The aim of our study was the assessment of the anti Hsp70 antibody concentration in the patients with CLL. Material and methods: We assessed 20 peripheral blood samples from the patients with newly diagnosed CLL. (aged 46–74), including 11 males and 9 females. A group of healthy age matched subjects were used as a control group. The patients were in A-C stages of CLL according to Binet scale. Quantitative determination of anti-human Hsp70 antibodies in the serum was done using commercial test (anti Hsp70 Elisa Kits, Stressgen). The results are presented as mean ± SEM. Statistical analysis was done using Shapiro-Wilk, Mann-Whitney and Spearman’s tests. Results: The levels of anti HSP70 antibodies were significantly lower in the group of patients with CLL in comparison to healthy controls (141,99±74,26 ng/ml vs.298,36±57,06 ng/ml; p< 0,01). In our analysis there was no association between the levels of antibodies and the stage of the disease. There were no correlations between the levels of anti Hsp antibodies and other parametres such as age, gender and some prognostic factors (LDH, β2-microglobulin, and lymphocyte doubling time) in the studied group. Conclusions: The significantly lower concentrations of anti HSP70 antibodies in CLL patients suggest that these molecules may play a role in the biology of the disease. The encouraging results from our study suggest that it might be interesting to assess their level depending on the response to the applied treatment. Further studies are required to elucidate the role of these proteins in leukaemic conditions.
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Piszcz, Jaroslaw, Edyta Cichocka, Lukasz Bolkun, Marzenna Galar, Katarzyna Mazgajska-Barczyk, Marek Milewski, and Janusz Kloczko. "Anti Hsp70 Antibodies in Untreated Patients with Chronic Lymphocytic Leukaemia." Blood 112, no. 11 (November 16, 2008): 4191. http://dx.doi.org/10.1182/blood.v112.11.4191.4191.
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Abstract Background: Chronic lymphocytic leukaemia (CLL) is one of the diseases in which processes of proliferation and apoptosis are altered. It has been intensely studied in the recent years in order to understand the mechanisms of neoplastic development. Hsps or heat shock proteins are molecular chaperones involved in a number of cellular functions in stress conditions. Feng et al. (2002) have reported that heat-stressed apoptotic 12B1-D1 leukaemia cells (BCR-ABL(+)) express Hsp70 on their surface. It has also been suggested that an increased surface expression of heat shock proteins on apoptotic tumour cells results in the generation of potent antitumour T-cell responses. Furthermore, different hsps including Hsp70 have been discovered in indolent lymphoma cells. Anti Hsp70 antibodies are known to play a role in immunological and neoplastic processes. It has been well documented that this antibodies level tends to increase with age likewise an incidence of CLL. However their significance in CLL has not been clearly understood. Aims: The aim of our study was the assessment of the anti Hsp70 antibody concentration in the patients with CLL. Material and methods: We assessed 60 peripheral blood samples from the patients with newly diagnosed CLL. (aged 40–77), including 31 males and 29 females. A group of 20 healthy age matched subjects were used as a control group. The patients were in A-C stages of CLL according to Binet scale. Quantitative determination of anti-human Hsp70 antibodies in the serum was done using commercial test (anti Hsp70 Elisa Kits, Stressgen). The results are presented as mean ± SEM. Statistical analysis was done using Shapiro-Wilk, Mann-Whitney and Spearman’s tests. Results: The levels of anti Hsp70 antibodies were significantly lower in the group of patients with CLL in comparison to healthy controls (105,70±16,86 ng/ml vs.243,71±60,36 ng/ml; p=0,0027). In our analysis there was no association between the levels of antibodies and the stage of the disease. There were no statistically significant correlations between the levels of anti Hsp antibodies and other parameters such as age, gender and some prognostic factors (LDH, β2-microglobulin, and lymphocyte doubling time) in the studied group. Conclusions: The significantly lower concentrations of anti Hsp70 antibodies in CLL patients suggest that these molecules may play a role in the biology of the disease. Our study revealed lack of correlation between the level of antibodies and the disease prognostic factors. However, further studies utilizing new discovered factors are required to elucidate the role of these proteins in leukaemic biology. The encouraging results from our study suggest that it might be interesting to assess their level in CLL patient after chemotherapy.
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Panarace, M., L. Cattaneo, J. N. Caballero, H. R. Cerrate, G. G. Kaiser, M. Marfil, and M. J. Medina. "333PREGNANCY RATE OBTAINED WITH EMBRYOS COLLECTED AFTER INSEMINATION OF SUPEROVULATED COWS WITH SEXED SORTED SEMEN." Reproduction, Fertility and Development 16, no. 2 (2004): 286. http://dx.doi.org/10.1071/rdv16n1ab333.
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According to the production objectives of beef or dairy commercial farms, the possibility of gender selection of the offspring is an important tool to optimize the use of genetic and economical resources. The use of sexed sorted semen by flow cytometry to inseminate donors in a MOET program has successfully demonstrated a normal embryo production per cow (Theriogenology 59:513). The aim of this study was to evaluate the pregnancy rate and sex accuracy obtained after transferring embryos collected using sexed semen to inseminate the donors in MOET programs. The semen was provided by our commercial laboratory. Eighteen cows were inseminated with frozen female sexed semen and 22 with frozen male sexed semen. Embryos were collected using a commercial flushing medium with BSA and antibiotics. After the embryos were washed through 10 drops of holding medium, 50 embryos were transferred fresh;; 150 were frozen in 1.5M ethylene glycol, thawed 10 seconds in air;; and held for 30 seconds in a water bath at 35°C before transferring them. Fresh embryo stage and quality rates were: morula grade 1: 49%, grade 2: 13%; blastocyst grade 1: 34%, grade 2: 4%. Frozen embryo stage and quality rates were: morulae grade 1: 28%, grade 2: 18%; blastocyst grade 1: 47%, grade 2: 7%. The embryo transfers (ET) were performed in previously synchronized recipients injected with two doses of prostaglandin 12 days apart. Thirty days after ET, the diagnosis of pregnancy was done by transrectal ultrasonography (ALOKA 500 Scanner) to asses the pregnancy rate. Sixty days after the ET, fetal sex determination was done. The results are shown in the table 1 below. The pregnancy rates in both fresh and frozen-thawed preselected sex embryos are similar to those obtained with nonpreselected sex embryos (Theriogenology 56:1401). The high rate of sex accuracy shows the reliability of the technique of sexed sorted semen by flow cytometry to produce preselected sex embryos in superovulated cows. This research was supported by Fundación Margarita Perez Companc. Table 1
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Solovyuk, A. A. "Pathogenetic Changes in the Expression of Apoptotic Marker Caspase-3 in Patients with Type IІ Diabetes Mellitus and Excess Body Weight and Obesity." Ukraïnsʹkij žurnal medicini, bìologìï ta sportu 5, no. 5 (November 1, 2020): 185–91. http://dx.doi.org/10.26693/jmbs05.05.185.
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The determination of molecular mechanisms, genetic control pathways, and modeling of apoptotic processes are necessary for understanding the pathogenesis of type 2 diabetes mellitus, especially in combination with obesity and excess body weight, which in the future may create prerequisites for the search for pathogenetic treatment. The purpose of the study was to assess the state of apoptosis processes in patients with type 2 diabetes mellitus in combination with excess body weight and obesity, depending on the clinical characteristics of the disease. Material and methods. 98 people with diabetes mellitus were examined. The first group consisted of 64 people with excess body weight and obesity (body mass index >25). The second group included 34 people with type 2 diabetes mellitus and normal body weight (body mass index ≤25). The control group consisted of 28 practically healthy individuals, who were comparable to the first and second groups by gender and age. Results and discussion. The presence of type 2 diabetes mellitus, excess body weight and obesity in patients led to increasing the level of the marker of apoptotic death of body cells – caspase-3 by 16.52%. Patients with glycated hemoglobin HbA1c more than 8% showed an increase in caspase-3 compared with patients with compensated diabetes mellitus; the difference was more pronounced in patients with excess body weight and obesity (19.13%, p <0.05). An increase in the duration of type 2 diabetes mellitus led to the activation of apoptosis processes, which was manifested in the rise of the studied apoptosis marker, caspase-3, both in patients with and without obesity (p <0.05). The development of the complication of type 2 diabetes mellitus in obese patients increased caspase-3 levels by 29.04% (p <0.05) in the absence of significant changes in this marker in patients with type 2 diabetes mellitus without obesity. Conclusion. The dynamics of apoptotic processes in patients with type 2 diabetes mellitus combined with and obesity, depending on the clinical characteristics of patients, is closely related to the level of apoptosis marker – caspase of the cysteine proteinase group – caspase-3
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Burianov, O., L. Khimion, T. Omelchenko, V. Lyanskorynsky, and E. Levitskyi. "FRI0395 PROGNOSIS OF TREATMENT OUTCOMES IN PATIENTS WITH ANKLE JOINT OSTEOCHONDRAL LESIONS AND DEFECTS." Annals of the Rheumatic Diseases 79, Suppl 1 (June 2020): 796.1–796. http://dx.doi.org/10.1136/annrheumdis-2020-eular.2503.
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Background:in most cases osteochondral lesions and defects (OHLD) in the ankle joint are the consequences of trauma, and the results of their treatment depend on a number of factors. Some factors are directly related to the area of damage (depth, localization, size), others are connected to the patients age, presence of degenerative changes in the affected joint, comorbidities, body mass index (BMI), etc.Objectives:to develop an effective system for predicting long-term outcomes in patients with ankle joint OHLD.Methods:24 prognostic factors (age, gender, severity of injury, Charlson comorbidity index, BMI, OA stage, size of defect, localization of injury, degree of osteoporosis, contracture, instability, etc.) influence on the long-term (36 ± 4.5 months) treatment outcomes was analyzed by Bayesian probability analysis in 223 patients after ankle joint OHLD. The prognostic coefficient (PC) was calculated by Wald sequential analysis for each prognostic factor and prognostic system was developed for prediction of high, medium or low probability of positive treatment result, which was determined as a functional joint outcome in AOFAS 75 - 100 points.Results:the greatest predictive value for the positive result of OHLD treatment had the following factors: age< 40 years (PC = 8.5); BMI < 25 kg/m2(PC=7.0), time from trauma < 1 year (PC = 4,1); OA stage < II (PC = 7.2); size of OHLD <1.0 cm2; volume <1.5 cm3(PC = 8.0). The prognostic system is based on the calculating of total factors values for individual patients case in points (Σ PC). If Σ PC is less (-20) the probability of achieving a positive joint-saving result is absent; at Σ PC from (-20) to (+40) the probability is medium; and at Σ PC above (+40) probability is high. The accuracy of the prognostic assessment was retrospectively tested with a 95% confidence interval, the accuaracy of predicitive method – 84,17% (76,59-89,62)%.Conclusion:the size and volume of osteochondral damage, BMI, age and time from trauma has the greatest predictive value for the determination of the long-term results of treatment in patients with ankle joint OHLD; use of the developed prognostic method can be used as a basis for the clinical decision making in choosing different approaches in treatment.Disclosure of Interests:None declared