scholarly journals Experience of Preimplantation Genetic Diagnosis for Hemophilia at the University Hospital Virgen Del Rocío in Spain: Technical and Clinical Overview

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Raquel M. Fernández ◽  
Ana Peciña ◽  
Beatriz Sánchez ◽  
Maria Dolores Lozano-Arana ◽  
Juan Carlos García-Lozano ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Hemophilia A ◽  
Methodological Approach ◽  
Genetic Diagnosis ◽  
Live Birth Rate ◽  
University Hospital ◽  
Methodological Approaches ◽  
The University ◽  
Clinical Overview ◽  
Selection Of

Hemophilia A and B are the most common hereditary hemorrhagic disorders, with an X-linked mode of inheritance. Reproductive options for the families affected with hemophilia, aiming at the prevention of the birth of children with severe coagulation disorders, include preimplantation genetic diagnosis (PGD). Here we present the results of our PGD Program applied to hemophilia, at the Department of Genetics, Reproduction and Fetal Medicine of the University Hospital Virgen del Rocío in Seville. A total of 34 couples have been included in our program since 2005 (30 for hemophilia A and 4 for hemophilia B). Overall, 60 cycles were performed, providing a total of 508 embryos. The overall percentage of transfers per cycle was 81.7% and the live birth rate per cycle ranged from 10.3 to 24.1% depending on the methodological approach applied. Although PGD for hemophilia can be focused on gender selection of female embryos, our results demonstrate that methodological approaches that allow the diagnosis of the hemophilia status of every embryo have notorious advantages. Our PGD Program resulted in the birth of 12 healthy babies for 10 out of the 34 couples (29.4%), constituting a relevant achievement for the Spanish Public Health System within the field of haematological disorders.

scholarly journals Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Raquel M. Fernández ◽  
Ana Peciña ◽  
Maria Dolores Lozano-Arana ◽  
Beatriz Sánchez ◽  
Juan Carlos García-Lozano ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Preimplantation Genetic Diagnosis ◽  
Birth Rate ◽  
Fragile X ◽  
Genetic Diagnosis ◽  
Live Birth Rate ◽  
University Hospital ◽  
Mental Impairment ◽  
High Prevalence ◽  
The University

Fragile X syndrome (FXS) accounts for about one-half of cases of X-linked intellectual disability and is the most common monogenic cause of mental impairment. Reproductive options for the FXS carriers include preimplantation genetic diagnosis (PGD). However, this strategy is considered by some centers as wasteful owing to the high prevalence of premature ovarian failure in FXS carriers and the difficulties in genetic diagnosis of the embryos. Here we present the results of our PGD Program applied to FXS, at the Department of Genetics, Reproduction and Fetal Medicine of the University Hospital Virgen del Rocío in Seville. A total of 11 couples have participated in our PGD Program for FXS since 2010. Overall, 15 cycles were performed, providing a total of 43 embryos. The overall percentage of transfers per cycle was 46.67% and the live birth rate per cycle was 13.33%. As expected, these percentages are considerably lower than the ones obtained in PGD for other pathologies. Our program resulted in the birth of 3 unaffected babies of FXS for 2 of the 11 couples (18.2%) supporting that, despite the important drawbacks of PGD for FXS, efforts should be devoted in offering this reproductive option to the affected families.

scholarly journals Experience of Preimplantation Genetic Diagnosis with HLA Matching at the University Hospital Virgen del Rocío in Spain: Technical and Clinical Overview

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Raquel María Fernández ◽  
Ana Peciña ◽  
Maria Dolores Lozano-Arana ◽  
Beatriz Sánchez ◽  
Jordi Guardiola ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diseases ◽  
Genetic Diagnosis ◽  
Hla Typing ◽  
University Hospital ◽  
Haematopoietic Stem Cell ◽  
Tissue Type ◽  
Hla Matching ◽  
The University ◽  
Clinical Overview

Preimplantation genetic diagnosis (PGD) of genetic diseases, combined with HLA matching (PGD-HLA), is an option for couples at risk of transmitting a genetic disease to select unaffected embryos of an HLA tissue type compatible with that of an existing affected child. Here we present the results of our PGD-HLA program at the Department of Genetics, Reproduction and Fetal Medicine of the University Hospital Virgen del Rocío in Seville. Seven couples have participated in our program because of different indications. Overall, 26 cycles were performed, providing a total of 202 embryos. A conclusive molecular diagnosis and HLA-typing could be assured in 96% of the embryos. The percentage of transfers per cycle was 26.9% and the birth rate per cycle was 7.7% per transfer. Our PGD-HLA program resulted in the birth of 2 healthy babies, HLA-identical to their affected siblings, with successful subsequent haematopoietic stem cell (HSC) transplantations. Both HSC-transplanted children are currently doing well 48 and 21 months following transplantation, respectively. All the procedures, including HSCs umbilical cord transplantation, were performed in our hospital.

METHODOLOGICAL APPROACHES TO IDENTIFYING INDUSTRIAL PRIORITIES OF EMPLOYMENT IN THE CONTEXT OF ASSESSMENT OF THE PROCESS OF ITS RESTRUCTURIZATION

2021 ◽  
Vol 99 (3) ◽  
pp. 41-58
Author(s):  
Vyacheslav Dodonov ◽  
Keyword(s):  
Economic Development ◽  
Labor Market ◽  
Economic Activity ◽  
Methodological Approach ◽  
Sequential Process ◽  
Government Programs ◽  
Sectoral Structure ◽  
Methodological Approaches ◽  
Selection Of

The regulation of the restructuring employment processes that occurs in the course of the development of the economy and the evolution of its structure should be based on the selection of sectoral priorities and be accompanied by an assessment of this process in terms of its compliance with the needs of the development of progressive types of economic activity. In this regard, the problem of elaborating methodological approaches that ensure the orderliness and controllability of the process of restructuring employment, including objectifying the choice of progressive industries and assessing the quality of shifts in the sectoral structure of employment, is highly relevant. The article substantiates approaches to identifying sectoral priorities for restructuring employment based on the criteria of economic efficiency and involvement in the implementation of government programs and also proposes a sequential process for evaluating the quality of shifts in employment based on their compliance with the selected sectoral priorities. Within the framework of the proposed approaches, using the example of the labor market in Kazakhstan, the results obtained are presented, such as a sequence of analytical actions to determine the range of priority sectors, a matrix for identifying sectoral priorities for employment, a scheme for implementing a methodological approach to assessing the quality of shifts in the sectoral structure of employment. On the basis of the proposed approaches, an assessment of the quality of shifts in the sectoral structure of employment in Kazakhstan was carried out and conclusions were drawn about the insufficient correspondence of these shifts to the priorities of the country's economic development.

scholarly journals Preimplantation genetic diagnosis for hemophilia A using indirect linkage analysis and direct genotyping approaches

2010 ◽  
Vol 8 (4) ◽  
pp. 783-789 ◽  
Author(s):  
A. D. LAURIE ◽  
A. M. HILL ◽  
J. R. HARRAWAY ◽  
A. P. FELLOWES ◽  
G. T. PHILLIPSON ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Preimplantation Genetic Diagnosis ◽  
Hemophilia A ◽  
Genetic Diagnosis ◽  
Indirect Linkage

scholarly journals Opinions of nurses regarding conscientious objection

2017 ◽  
Vol 26 (4) ◽  
pp. 1027-1038 ◽  
Author(s):  
Rafael Toro-Flores ◽  
Pilar Bravo-Agüi ◽  
María Victoria Catalán-Gómez ◽  
Marisa González-Hernando ◽  
María Jesús Guijarro-Cenisergue ◽  
...  
Keyword(s):  
Religious Beliefs ◽  
Genetic Diagnosis ◽  
Conscientious Objection ◽  
University Hospital ◽  
Blood Transfusions ◽  
Autonomous Community ◽  
Clinical Relationship ◽  
Religious Reasons ◽  
The University ◽  
To Receive

Background: In the last decades, there have been important developments in the scientific and technological areas of healthcare. On certain occasions this provokes conflict between the patients' rights and the values of healthcare professionals which brings about, within this clinical relationship, the problem of conscientious objection. Aims: To learn the opinions that the Nurses of the Madrid Autonomous Community have regarding conscientious objection. Research design: Cross-cutting descriptive study. Participants and research context: The nurses of 9 hospitals and 12 Health Centers in the Madrid Autonomous Community. The study was done by means of an auto completed anonymous questionnaire. The variables studied were social-demographical and their opinions about conscientious objections. Ethical considerations: The study was approved by the Ethical Community of Clinical Research of the University Hospital Príncipe de Asturias. Participants were assured of maximum confidentiality and anonymity. Findings: A total of 421 nurses answered the questionnaire. In total, 55.6% of the nurses confirmed they were religious believers, and 64.3% declared having poor knowledge regarding conscientious objection. The matters that caused the greatest objections were voluntary abortions, genetic embryo selection, refusal of blood transfusions, and therapy refusal. Discussion: Different authors state that the most significant cases of conscientious objections for health professionals are those regarding carrying out or assisting in abortions, euthanasia, the practice of assisted reproduction and, finally, the prescription and dispensing of the morning-after pill. In our study, the most significant cases in which the nurses would declare conscientious objections would be the refusal to accept treatment, the selection of embryos after genetic diagnosis preimplantation, the patient’s refusal to receive blood transfusions due to religious reasons and pregnant women’s request for voluntary abortions within the first 14 weeks. Conclusion: Nurses’ religious beliefs influence their opinions regarding conscientious objection. The nurses who declare themselves as religious believers object in a higher percentage than those without religious beliefs.

scholarly journals Methodological approaches to assessing the level of vulnerability of settlements in Kazakhstan

2021 ◽  
Vol 291 ◽  
pp. 03004
Author(s):  
Anel A. Kireyeva ◽  
Nailya K. Nurlanova ◽  
Aisulu Moldabekova ◽  
Marat Urdabayev ◽  
Dinara Mussayeva
Keyword(s):  
Data Analysis ◽  
Statistical Data ◽  
Methodological Approach ◽  
Agricultural Products ◽  
Primary Data ◽  
Rural Settlements ◽  
Nominal Income ◽  
Per Capita ◽  
Methodological Approaches ◽  
Selection Of

The aim of the research is to study the factors of development and depression of the territory, the development of a methodological approach to assessing cities and rural settlements of Kazakhstan. The main indicators of selection of localities include population density, industrial production per capita, gross output of agricultural products (services rendered) per capita, retail turnover per capita, nominal income per capita, migration balance, distance up to 50 km from the state border of Kazakhstan. The sample will be formed based on the selected criteria from 88 cities and 6322 rural settlements of Kazakhstan. The developed approach can be applied in further data analysis based on secondary statistical data and conducting an empirical study to collect primary data.

scholarly journals Polar Body Diagnosis for Hemophilia A Using Multiplex PCR for Linked Polymorphic Markers

2005 ◽  
Vol 53 (3) ◽  
pp. 277-280 ◽  
Author(s):  
Diana Tomi ◽  
Georg Griesinger ◽  
Askan Schultze-Mosgau ◽  
Juliane Eckhold ◽  
Beate Schöpper ◽  
...  
Keyword(s):  
Multiplex Pcr ◽  
Preimplantation Genetic Diagnosis ◽  
Hemophilia A ◽  
Polar Body ◽  
Genetic Diagnosis ◽  
Polymorphic Markers ◽  
Polar Bodies ◽  
Fluorescent Pcr ◽  
Polar Body Diagnosis

Preimplantation genetic diagnosis (PGD) is usually performed on blastomeres. In Germany, the only possibility to perform PGD is by analysis of polar bodies. We performed PGD using polar bodies in a woman who is a carrier of hemophilia A. Multiplex PCR followed by nested fluorescent PCR for five linked polymorphic markers was established. From 11 analyzed polar bodies, only 1 showed alleles linked to the mutation. The corresponding oocyte was transferred and no pregnancy was established. As seen in other investigations, the rate of heterozygous first polar bodies is surprisingly high.

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