14 research outputs found
General aspects, main steps and special issues in genetic counselling medical practice
Π Π΅Π·ΡΠΌΠ΅. Π‘ΡΠ°ΡΠΈΡΡΠ° ΠΎΡΠ½ΠΎΠ²Π½ΠΎ Π΅ Π½Π°ΡΠΎΡΠ΅Π½Π° ΠΊΡΠΌ ΠΌΠ΅Π΄ΠΈΡΠΈ, ΠΊΠΎΠΈΡΠΎ Π½Π΅ ΡΠ° Π΅ΠΊΡΠΏΠ΅ΡΡΠΈ ΠΈΠ»ΠΈ ΡΠΏΠ΅ΡΠΈΠ°Π»ΠΈΡΡΠΈ Π² ΠΏΠΎΠ»Π΅ΡΠΎ Π½Π° ΠΌΠ΅Π΄ΠΈΡΠΈΠ½ΡΠΊΠ°ΡΠ° Π³Π΅Π½Π΅ΡΠΈΠΊΠ°, a ΠΏΠΎ-ΡΠΊΠΎΡΠΎ ΠΊΡΠΌ Π±ΠΎΠ»Π½ΠΈΡΠ½ΠΈΡΠ΅ ΠΊΠ»ΠΈΠ½ΠΈΡΠΈΡΡΠΈ, ΡΠ°ΠΌΠΈΠ»Π½ΠΈ Π»Π΅ΠΊΠ°ΡΠΈ ΠΈ Π½Π΅ΠΌΠ΅Π΄ΠΈΡΠΈΠ½ΡΠΊΠΈ Π³Π΅Π½Π΅ΡΠΈΡΠ½ΠΈ ΠΊΠΎΠ½ΡΡΠ»ΡΠ°Π½ΡΠΈ ΡΡΡ ΡΠΏΠ΅ΡΠΈΡΠΈΡΠ΅Π½ ΠΎΠΏΠΈΡ Π² Π½ΡΠΊΠΎΡ ΠΎΡ ΠΎΠ±Π»Π°ΡΡΠΈΡΠ΅ Π½Π° Π³Π΅Π½Π΅ΡΠΈΡΠ½ΠΎΡΠΎ ΠΊΠΎΠ½ΡΡΠ»ΡΠΈΡΠ°Π½Π΅. Π’Ρ ΠΏΡΠ΅Π΄ΡΡΠ°Π²Ρ ΠΎΡΠ³Π°Π½ΠΈΠ·Π°ΡΠΈΡΡΠ° Π½Π° Π³Π΅Π½Π΅ΡΠΈΡΠ½ΠΈΡΠ΅ ΡΠ»ΡΠΆΠ±ΠΈ Π² Π½Π°ΡΠ°ΡΠ° ΡΡΡΠ°Π½Π° - ΡΠ΅ ΡΠ° ΡΡΡΡΠΊΡΡΡΠΈ ΠΎΡ ΠΈΠ½ΡΠ΅Π³ΡΠΈΡΠ°Π½ΠΈ ΡΠ΅Π³ΠΈΠΎΠ½Π°Π»Π½ΠΈ ΡΠ΅Π½ΡΡΠΎΠ²Π΅ Π² ΡΠ½ΠΈΠ²Π΅ΡΡΠΈΡΠ΅ΡΡΠΊΠΈΡΠ΅ Π±ΠΎΠ»Π½ΠΈΡΠΈ, ΡΡΡΠ΅ΡΠ°Π²Π°ΡΠΈ ΠΊΠ»ΠΈΠ½ΠΈΡΠ½ΠΈ, Π»Π°Π±ΠΎΡΠ°ΡΠΎΡΠ½ΠΈ ΠΈ Π°ΠΊΠ°Π΄Π΅ΠΌΠΈΡΠ½ΠΈ Π΄Π΅ΠΉΠ½ΠΎΡΡΠΈ. Π‘ΡΠ°ΡΠΈΡΡΠ° ΠΏΡΠ΅Π΄ΡΡΠ°Π²Ρ ΡΡΡΠ½ΠΎΡΡΡΠ° ΠΈ ΠΎΡΠ½ΠΎΠ²Π½ΠΈΡΠ΅ Π΅Π»Π΅ΠΌΠ΅Π½ΡΠΈ Π½Π° Π³Π΅Π½Π΅ΡΠΈΡΠ½ΠΎΡΠΎ ΠΊΠΎΠ½ΡΡΠ»ΡΠΈΡΠ°Π½Π΅: Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΡΠ½ΠΈ ΠΈ ΠΊΠ»ΠΈΠ½ΠΈΡΠ½ΠΈ Π°ΡΠΏΠ΅ΠΊΡΠΈ, Π΄ΠΎΠΊΡΠΌΠ΅Π½ΡΠΈΡΠ°Π½Π΅ Π½Π° ΡΠ°ΠΌΠΈΠ»Π½Π°ΡΠ° ΠΈ ΡΠΎΠ΄ΠΎΡΠ»ΠΎΠ²Π½Π° ΠΈΠ½ΡΠΎΡΠΌΠ°ΡΠΈΡ, ΡΡΡΠ°Π½ΠΎΠ²ΡΠ²Π°Π½Π΅ Π½Π° ΡΠΈΠΏΠ° Π½Π° ΡΠ½Π°ΡΠ»Π΅Π΄ΡΠ²Π°Π½Π΅ Π² ΠΊΠΎΠ½ΠΊΡΠ΅ΡΠ½ΠΎΡΠΎ ΡΠ΅ΠΌΠ΅ΠΉΡΡΠ²ΠΎ, ΠΊΠΎΠΌΡΠ½ΠΈΠΊΠ°ΡΠΈΡ Π·Π° ΠΈΠ½ΡΠΎΡΠΌΠΈΡΠ°Π½Π΅ Π·Π° Π½Π°Π»ΠΈΡΠ½ΠΈΡΠ΅ Π²ΡΠ·ΠΌΠΎΠΆΠ½ΠΎΡΡΠΈ, ΠΎΠ±ΡΠ»ΡΠΆΠ²Π°Π½Π΅ ΠΈ Π±ΡΠ΄Π΅ΡΠΎ ΠΏΠΎΠ²Π΅Π΄Π΅Π½ΠΈΠ΅, ΠΏΠΎΠ΄ΠΊΡΠ΅ΠΏΠ° ΠΏΡΠΈ ΠΏΡΠΎΡΠ΅ΡΠ° Π½Π° ΠΈΠ·Π³ΡΠ°ΠΆΠ΄Π°Π½Π΅ ΠΈΠ»ΠΈ Π²Π·Π΅ΡΠΎ ΡΠ΅ΡΠ΅Π½ΠΈΠ΅. Π’ΡΠΉ ΠΊΠ°ΡΠΎ ΠΌΠ΅Π΄ΠΈΡΠΈΠ½ΡΠΊΠ°ΡΠ° Π³Π΅Π½Π΅ΡΠΈΠΊΠ° Π΅ Π² ΠΏΡΠΎΡΠ΅Ρ Π½Π° ΠΏΡΠΎΠ³ΡΠ΅ΡΠΈΡΠ°ΡΠΎ ΡΠ°Π·ΠΏΡΠΎΡΡΡΠ°Π½Π΅Π½ΠΈΠ΅ Π² ΡΠ²ΠΎΠ΅ΡΠΎ ΠΏΡΠΈΠ»ΠΎΠΆΠ΅Π½ΠΈΠ΅ ΠΈΠ·Π²ΡΠ½ ΡΠΏΠ΅ΡΠΈΠ°Π»Π½ΠΈΡΠ΅ ΡΠ΅Π½ΡΡΠΎΠ²Π΅, Π²ΡΠ·Π½ΠΈΠΊΠ²Π° Π½Π°ΡΠ°ΡΡΠ²Π°ΡΠ° Π½Π΅ΠΎΠ±Ρ
ΠΎΠ΄ΠΈΠΌΠΎΡΡ Π·Π° ΠΊΠ»ΠΈΠ½ΠΈΡΠΈΡΡΠΈ ΠΎΡ ΡΠ°Π·Π»ΠΈΡΠ½ΠΈ ΠΌΠ΅Π΄ΠΈΡΠΈΠ½ΡΠΊΠΈ ΡΠΏΠ΅ΡΠΈΠ°Π»Π½ΠΎΡΡΠΈ Π΄Π° ΡΠ΅ Π°Π½Π³Π°ΠΆΠΈΡΠ°Ρ ΠΏΠΎ-Π°ΠΊΡΠΈΠ²Π½ΠΎ ΠΊΡΠΌ Π½ΡΠΆΠ΄ΠΈΡΠ΅ ΠΎΡ Π³Π΅Π½Π΅ΡΠΈΡΠ½ΠΎ ΠΊΠΎΠ½ΡΡΠ»ΡΠΈΡΠ°Π½Π΅ Π·Π° ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΈΡΠ΅, ΠΊΠΎΠΈΡΠΎ ΡΠ΅ ΠΎΠ±ΡΠ»ΡΠΆΠ²Π°Ρ.This paper is primarily for those who are not experts or specialists in the field of Medical genetics, but for the general hospital clinicians, family doctors or non-medical genetic counselors with a specific training in the field. It gives the organization of genetic services our country - they are provided in integrated regional centers in university hospitals, incorporating clinical, laboratory and teaching activities.The paper lists the principal elements of genetic counseling: diagnostic and clinical aspects, documentation of family and pedigree information, recognition of inheritance patterns and risk estimation in the particular family, communication and information on available options and further measures, support in decision - making and for decisions made. As medical genetics progressively spreads out in its applications beyond specialist canters, there is a growing need for clinicians in different medical fields to engage actively with genetic counseling needs of those whom they see
Prenatal diagnosis - Basic genetic approach to prophylaxis
Π Π΅Π·ΡΠΌΠ΅: ΠΡΠΎΡΠΈΠ»Π°ΠΊΡΠΈΠΊΠ°ΡΠ°, ΠΊΠ°ΡΠΎ ΠΈΠΊΠΎΠ½ΠΎΠΌΠΈΡΠ΅ΡΠΊΠΈ ΠΈ ΠΌΠ΅Π΄ΠΈΠΊΠΎ-ΡΠΎΡΠΈΠ°Π»Π½ΠΎ Π½Π°ΠΉ-Π΅ΡΠ΅ΠΊΡΠΈΠ²Π΅Π½ ΠΌΠ΅ΡΠΎΠ΄ Π·Π° ΠΏΡΠ΅Π²Π΅Π½ΡΠΈΡ, ΡΠ»Π΅Π΄Π²Π° Π΄Π° Π±ΡΠ΄Π΅ ΠΏΡΠ΅ΠΎΡΠΈΡΠ΅Ρ Π½Π° Π²ΡΡΠΊΠ° ΠΌΠ΅Π΄ΠΈΡΠΈΠ½ΡΠΊΠ° ΡΠΏΠ΅ΡΠΈΠ°Π»Π½ΠΎΡΡ. Π Π΅ΡΠ°ΡΠ° Π½Π° ΡΡΠ»ΠΌΠΈΠ½Π°Π½ΡΠ½ΠΎ ΡΠ°Π·Π²ΠΈΠ²Π°ΡΠΈ ΡΠ΅ ΡΠ΅Ρ
Π½ΠΎΠ»ΠΎΠ³ΠΈΠΈ, ΠΌΠ΅Π΄ΠΈΡΠΈΠ½ΡΠΊΠ°ΡΠ° Π³Π΅Π½Π΅ΡΠΈΠΊΠ° ΡΠ°Π·ΠΏΠΎΠ»Π°Π³Π° Ρ Π²ΡΠ΅ ΠΏΠΎΠ²Π΅ΡΠ΅ ΡΡΠ΅Π΄ΡΡΠ²Π° Π·Π° Π±ΠΎΡΠ±Π° Ρ ΡΠ΅ΠΆΠΊΠΈΡΠ΅ Π²ΡΠΎΠ΄Π΅Π½ΠΈ Π·Π°Π±ΠΎΠ»ΡΠ²Π°Π½ΠΈΡ. Π ΡΡΠ°ΡΠΈΡΡΠ° ΡΠ° ΠΏΡΠ΅Π΄ΡΡΠ°Π²Π΅Π½ΠΈ ΡΡΡΠ½ΠΎΡΡΡΠ° ΠΈ ΠΎΡΠ½ΠΎΠ²Π½ΠΈΡΠ΅ Π΅Π»Π΅ΠΌΠ΅Π½ΡΠΈ ΠΏΡΠΈ ΠΏΡΠΎΠ²Π΅ΠΆΠ΄Π°Π½Π΅ΡΠΎ Π½Π° Π½Π΅ΠΈΠ½Π²Π°Π·ΠΈΠ²Π½ΠΈ ΠΈ ΠΈΠ½Π²Π°Π·ΠΈΠ²Π½ΠΈ ΠΌΠ΅ΡΠΎΠ΄ΠΈ Π·Π° ΠΏΠ΅Π½Π°ΡΠ°Π»Π½Π° Π³Π΅Π½Π΅ΡΠΈΡΠ½Π° ΠΏΡΠΎΡΠΈΠ»Π°ΠΊΡΠΈΠΊΠ°. ΠΠΈΠΎΡ
ΠΈΠΌΠΈΡΠ½ΠΈΡ ΡΠΊΡΠΈΠ½ΠΈΠ½Π³ ΠΈ Π½ΠΎΠ²ΠΈΡΠ΅ Π½Π°ΡΡΡΠΏΠ²Π°ΡΠΈ Π²ΡΠ΅ ΠΏΠΎ-ΠΌΠ°ΡΠΎΠ²ΠΎ ΡΠ΅ΡΡΠΎΠ²Π΅ Π·Π° Π°Π½Π°Π»ΠΈΠ· Π½Π° ΡΠ²ΠΎΠ±ΠΎΠ΄Π½Π° ΡΠ΅ΡΠ°Π»Π½Π° ΠΠΠ, ΠΊΠ°ΠΊΡΠΎ ΠΈ ΠΏΠΎΡΠ»Π΅Π΄Π²Π°ΡΠΈΡΠ΅ Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΡΠ½ΠΈ Π°Π½Π°Π»ΠΈΠ·ΠΈ, ΠΈΠΌΠ°Ρ ΠΎΡΠ²Π΅Π½ ΡΡΠΎΡΠ²Π΅ΡΠ½ΠΈΡΠ΅ Π²ΡΠ·ΠΌΠΎΠΆΠ½ΠΎΡΡΠΈ ΡΠ°ΠΊΠ° ΠΈ ΠΎΠΏΡΠ΅Π΄Π΅Π»Π΅Π½ΠΈ ΠΎΠ³ΡΠ°Π½ΠΈΡΠ΅Π½ΠΈΡ. ΠΡΠ΅Π΄ΡΠ°Π²Π΅Π½ΠΈ ΡΠ° ΠΈΠ½Π΄ΠΈΠΊΠ°ΡΠΈΠΈΡΠ΅ Π·Π° ΠΏΡΠΎwΠ΅ΠΆΠ΄Π°Π½Π΅, ΠΊΠ°ΠΊΡΠΎ ΠΈ ΡΡΠ»ΠΎΠ²ΠΈΡΡΠ° Π·Π° ΠΏΠΎΠ΄Π±ΠΎΡ Π½Π° ΠΏΠΎΠ²Π΅Π΄Π΅Π½ΠΈΠ΅ Π² ΡΡΠΎΡΠ²Π΅ΡΡΠ²ΠΈΠ΅ Ρ ΠΌΠΎΡΠ°Π»Π½ΠΎ-Π΅ΡΠΈΡΠ½ΠΈΡΠ΅ ΠΈ ΠΏΡΠ°Π²Π½ΠΈ Π½ΠΎΡΠΌΠΈ. ΠΠΈΠ½Π°ΠΌΠΈΠΊΠ°ΡΠ° Π² ΡΠ°Π·Π²ΠΈΡΠΈΠ΅ΡΠΎ Π½Π° ΠΎΠ±Π»Π°ΡΡΡΠ° Π΅ ΠΎΠ³Π³ΡΠΎΠΌΠ½Π° ΠΈ ΡΠ°ΠΌΠΎ Π²ΡΠ΅ΠΌΠ΅ΡΠΎ ΡΠ΅ ΠΎΡΠ²ΡΡΠ΄ΠΈ ΠΈΠ»ΠΈ ΠΎΡΡ
Π²ΡΡΠ»ΠΈ ΡΠ°Π·Π»ΠΈΡΠ½ΠΈΡΠ΅ ΠΏΠΎΠ΄Ρ
ΠΎΠ΄ΠΈ Π·Π° ΠΏΡΠ΅Π½Π°ΡΠ°Π»Π½Π° Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΠΊΠ°.Prophylaxis, as economicaly and socially most effective method of prevention, should be priority of all medical specialties. In the era of emerging technologies, medical genetics has more tools to fight serious congenital diseases. The article presents key moments and principle elements in providing non-invasive and invasive methods as prenatal genetic prevention. Maternal biochemical screening and the new non-invasive prenatal genetic tests as well as prenatal diagnostic tests have their possibilities and limitations. Indications for providing prenatal diagnosis together with moral, ethical and legal standards are listed. There is huge dynamics in development of the field so only time will approbated or reject various approaches to prenatal diagnosis
The IVS8(n)-T variant in the CFTR gene as a factor for male infertility
The CFTR gene is one of the new candidate genes, which are thought to be required for normal spermatogenesis. Different variants in this gene, for example IVS8-(n)T polymorphism, could be associated with its impaired functioning and could lead to male infertility. The aim of this study is to investigate whether this variant is found among Bulgarian patients with male infertility.We conducted molecular genetic testing of 25 men with sperm count below 5Γ106/mL in order to search for the presence of the IVS8(n)-T variant in their CFTR genes. The derived sequences were analyzed and compared to the human reference genome.The median age of the participants with impaired spermatogenesis was 34.00 years. The median concentration of the sperm cells in the ejaculate was 0.30Γ106/ mL. After we conducted the molecular genetic analysis for variants in the CFTR gene, it was found that one participant (4.00%) was a homozygote for the 5Π’/5Π’ variant, and another one (4.00%) was a heterozygote for the 5Π’/7Π’ variant.Β As for the remaining participants, 20 men (80.00%) were homozygotes for the wild 7Π’ variant, two (8.00%) β heterozygotes for the 7Π’/9Π’ variant, and one (4.00%) β a homozygote for the 9Π’/9Π’ variant.Β This study established the presence of the 5Π’ variant in the CFTR gene among the participants with impaired fertility due to azoospermia or severe oligozoospermia. This finding supports the role of polymorphisms in the CFTR gene and in particular the 5Π’ variant as a reason for male infertility
Standard karyotyping - a look through the European guidelines
Standard karyotyping is a method for genetic testing for chromosomal aberrations, based on specific clinical indications. Despite the progress in the field of molecular genetic testing, it still remains the first choice for genetic testing in developing countries due to financial and economic factors. In 2019, the latest European guidelines for constitutional cytogenomic analysis were released. They include general and specific guidelines for pre-analytical recommendation, sample preparation, analysis and reporting. Possibilities, limitations and minimum requirements for specific genetic testings are listed. Following the established European guidelines for genetic analysis and/or re-contacting patients with a possible genetic diagnosis will provide up-to-date medical service. Each laboratory should apply validated protocols for testing, based on the newly introduced recommendations by leading in the field organizations.Standard karyotyping is a method for genetic testing for chromosomal aberrations, based on specific clinical indications. Despite the progress in the field of molecular genetic testing, it still remains the first choice for genetic testing in developing countries due to financial and economic factors. In 2019, the latest European guidelines for constitutional cytogenomic analysis were released. They include general and specific guidelines for pre-analytical recommendation, sample preparation, analysis and reporting. Possibilities, limitations and minimum requirements for specific genetic testings are listed. Following the established European guidelines for genetic analysis and/or re-contacting patients with a possible genetic diagnosis will provide up-to-date medical service. Each laboratory should apply validated protocols for testing, based on the newly introduced recommendations by leading in the field organizations
MLPA analysis - application in the diagnostic activity of the medical geneticist
The article is mainly focused on physicians (hospital clinicians, family doctors) without specific experience in medical genetics, whose patients present with a probable genetic condition. We present the essence, possibilities and limitations of multiplex ligase-dependent amplification (MLPA) as a method for establishing a genetic diagnosis. The article describes cases from the experience of the Laboratory of Medical Genetics, Varna in the application of the method as a target and/or screening test in children with dysmorphic features and/or mental retardation. We emphasize on the role of the medical geneticist in patient selection, the choice of analysis, and comment on the results
Maternal Biochemical Screening as a Method for Prenatal Genetic Prophylaxis /// ΠΠ°ΠΉΡΠΈΠ½ Π±ΠΈΠΎΡ ΠΈΠΌΠΈΡΠ΅Π½ ΡΠΊΡΠΈΠ½ΠΈΠ½Π³ ΠΊΠ°ΡΠΎ ΠΌΠ΅ΡΠΎΠ΄ Π·Π° ΠΏΡΠ΅Π½Π°ΡΠ°Π»Π½Π° Π³Π΅Π½Π΅ΡΠΈΡΠ½Π° ΠΏΡΠΎΡΠΈΠ»Π°ΠΊΡΠΈΠΊΠ°
Maternal biochemical screening is a method of genetic prophylaxis and aims to provide a maximum accurate individual risk assessment for the most common and clinically relevant aneuploidy in the foetus, detecting mainly Down syndrome (trisomy 21). The process includes informed gynaecologist, certified ultrasound specialist in fetal anatomy, accredited laboratory, trained genetic counsellor, and a collaborative patient. Performance outcomes are expected to vary depending on the applied method, and there is no definite opinion on the choice of a particular approach. Genetic counselling should be offered to every pregnant woman, explaining testβs advantages and disadvantages. In Bulgaria there is no systematized results published over a long period of time. The aim of the study is to evaluate the effect of the program provided by the Laboratory of Medical Genetics, St. Marina University Hospital - Varna for ten years. The main aspects for validity of the test are evaluated - sensitivity, specificity and positive predictive value. Despite the widespread introduction of new cell free fetal DNA tests, biochemical screening remains the most widely used method and, together with the medical-genetic counselling, aims to provide optimal prenatal care with the best possible outcome for both the mother and the foetus.ΠΠ°ΠΉΡΠΈΠ½ Π±ΠΈΠΎΡ
ΠΈΠΌΠΈΡΠ΅Π½ ΡΠΊΡΠΈΠ½ΠΈΠ½Π³ ΠΊΠ°ΡΠΎ ΠΌΠ΅ΡΠΎΠ΄ Π·Π° ΠΏΡΠ΅Π½Π°ΡΠ°Π»Π½Π° Π³Π΅Π½Π΅ΡΠΈΡΠ½Π° ΠΏΡΠΎΡΠΈΠ»Π°ΠΊΡΠΈΠΊΠ° ΡΠ΅Π»ΠΈ Π½Π°Π²ΡΠ΅ΠΌΠ΅Π½Π½ΠΎ ΠΎΡΠΈΠ³ΡΡΡΠ²Π°Π½Π΅ Π½Π° ΠΌΠ°ΠΊΡΠΈΠΌΠ°Π»Π½ΠΎ ΡΠΎΡΠ½Π° ΠΈΠ½Π΄ΠΈΠ²ΠΈΠ΄ΡΠ°Π»Π½Π° ΠΎΡΠ΅Π½ΠΊΠ° Π½Π° ΡΠΈΡΠΊΠ° Π·Π° Π½Π°ΠΉ-ΡΠ΅ΡΡΠΈΡΠ΅ ΠΈ ΠΊΠ»ΠΈΠ½ΠΈΡΠ½ΠΎ Π·Π½Π°ΡΠΈΠΌΠΈ Π°Π½eΡΠΏΠ»ΠΎΠΈΠ΄ΠΈΠΈ ΠΏΡΠΈ ΡΠ΅ΡΡΡΠ°. ΠΠ°ΡΠ°Π΅ ΡΠΎΡΠΈΠ°Π»Π½ΠΎ Π·Π½Π°ΡΠΈΠΌΠΈ Π·Π°Π±ΠΎΠ»ΡΠ²Π°Π½ΠΈΡ Π°ΡΠΎΡΠΈΠΈΡΠ°Π½ΠΈ Ρ ΡΠ΅ΠΆΠΊΠ° ΠΊΠ»ΠΈΠ½ΠΈΡΠ½Π° ΠΊΠ°ΡΡΠΈΠ½Π° ΠΈ/ΠΈΠ»ΠΈ Π½Π°ΠΌΠ°Π»Π΅Π½ ΠΈΠ½ΡΠ΅Π»Π΅ΠΊΡ, ΠΊΠ°ΡΠΎ Π°ΠΊΡΠ΅Π½ΡΠΈΡΠ° Π²ΡΡΡ
Ρ ΠΎΡΠΊΡΠΈΠ²Π°Π½Π΅ΡΠΎ Π½Π° ΡΠΈΠ½Π΄ΡΠΎΠΌΠ° Π½Π° ΠΠ°ΡΠ½ (ΡΡΠΈΠ·ΠΎΠΌΠΈΡ 21). ΠΠΊΠ»ΡΡΠ²Π° ΠΈΠ½ΡΠΎΡΠΌΠΈΡΠ°Π½ Π°ΠΊΡΡΠ΅Ρ-Π³ΠΈΠ½Π΅ΠΊΠΎΠ»ΠΎΠ³, ΡΠ΅ΡΡΠΈΡΠΈΡΠΈΡΠ°Π½ ΡΠ»ΡΡΠ°Π·Π²ΡΠΊΠΎΠ² ΡΠΏΠ΅ΡΠΈΠ°Π»ΠΈΡΡ ΠΏΠΎ ΡΠ΅ΡΠ°Π»Π½Π° Π°Π½Π°ΡΠΎΠΌΠΈΡ, Π°ΠΊΡΠ΅Π΄ΠΈΡΠΈΡΠ°Π½Π° Π»Π°Π±ΠΎΡΠ°ΡΠΎΡΠΈΡ, ΠΎΠ±ΡΡΠ΅Π½ Π³Π΅Π½Π΅ΡΠΈΡΠ΅Π½ ΠΊΠΎΠ½ΡΡΠ»ΡΠ°Π½Ρ ΠΈ ΠΊΠΎΠ»Π°Π±ΠΎΡΠ°ΡΠΈΠ²Π½Π° ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΊΠ°. Π Π΅Π·ΡΠ»ΡΠ°ΡΠΈΡΠ΅ ΠΎΡ Π΅ΡΠ΅ΠΊΡΠΈΠ²Π½ΠΎΡΡΡΠ° ΠΎΡΠ°ΠΊΠ²Π°Π½ΠΎ Π²Π°ΡΠΈΡΠ°Ρ Π² Π·Π°Π²ΠΈΡΠΈΠΌΠΎΡΡ ΠΎΡ Π²ΡΠ·ΠΏΡΠΈΠ΅ΡΠΈΡΠ΅ ΠΏΠΎΠ΄Ρ
ΠΎΠ΄ΠΈ ΠΈ Π½Π΅ ΡΡΡΠ΅ΡΡΠ²ΡΠ²Π° ΠΊΠ°ΡΠ΅Π³ΠΎΡΠΈΡΠ½ΠΎ ΠΌΠ½Π΅Π½ΠΈΠ΅ Π·Π° ΠΈΠ·Π±ΠΎΡ Π½Π° ΠΊΠΎΠ½ΠΊΡΠ΅ΡΠ΅Π½ ΠΎΠΏΡΠΈΠΌΠ°Π»Π΅Π½ ΠΏΠΎΠ΄Ρ
ΠΎΠ΄. ΠΠ΅Π½Π΅ΡΠΈΡΠ½ΠΎ ΠΊΠΎΠ½ΡΡΠ»ΡΠΈΡΠ°Π½Π΅ ΡΡΡΠ±Π²Π° Π΄Π° ΡΡΠΏΡΡΡΡΠ²Π° Π²ΡΡΠΊΠ° ΡΡΡΠΏΠΊΠ° ΠΎΡ Π³ΡΠΈΠΆΠ°ΡΠ° Π·Π° Π±ΡΠ΅ΠΌΠ΅Π½Π½Π°ΡΠ°, ΠΊΠ°ΡΠΎ Π²Π½ΠΈΠΌΠ°ΡΠ΅Π»Π½ΠΎ ΠΏΠΎΡΡΠ½ΡΠ²Π° ΡΠ°Π·Π»ΠΈΡΠ½ΠΈΡΠ΅ Π°ΡΠΏΠ΅ΠΊΡΠΈ Π½Π° ΡΠ΅ΡΡΠΎΠ²Π΅ΡΠ΅ (ΠΏΡΠ΅Π΄ΠΈΠΌΡΡΠ²Π° ΠΈ Π½Π΅Π΄ΠΎΡΡΠ°ΡΡΡΠΈ). ΠΠ° Π±ΡΠ»Π³Π°ΡΡΠΊΠ°ΡΠ° ΠΏΠΎΠΏΡΠ»Π°ΡΠΈΡ, Π»ΠΈΠΏΡΠ²Π°Ρ ΡΠΈΡΡΠ΅ΠΌΠ°ΡΠΈΠ·ΠΈΡΠ°Π½ΠΈ ΡΠ΅Π·ΡΠ»ΡΠ°ΡΠΈ Π·Π° Π΄ΡΠ»ΡΠ³ ΠΏΠ΅ΡΠΈΠΎΠ΄ ΠΎΡ Π²ΡΠ΅ΠΌΠ΅, ΠΏΠΎΡΠ°Π΄ΠΈ ΠΊΠΎΠ΅ΡΠΎ ΠΈΠ½ΡΠ΅ΡΠ΅Ρ ΠΏΡΠ΅Π΄ΡΡΠ°Π²Π»ΡΠ²Π° ΠΎΠ±ΠΎΠ±ΡΠ°Π²Π°Π½Π΅ Π½Π° Π΄Π΅ΡΠ΅Ρ Π³ΠΎΠ΄ΠΈΡΠ½ΠΈΡ ΠΎΠΏΠΈΡ Π½Π° ΠΠ°Π±ΠΎΡΠ°ΡΠΎΡΠΈΡ ΠΏΠΎ ΠΌΠ΅Π΄ΠΈΡΠΈΠ½ΡΠΊΠ° Π³Π΅Π½Π΅ΡΠΈΠΊΠ° Π² ΠΠΠΠ βΠ‘Π². ΠΠ°ΡΠΈΠ½Π°β ΠΠ°ΡΠ½Π° Ρ ΡΠ΅Π» ΠΏΡΠΎΡΡΠ²Π°Π½Π΅ Π΅ΡΠ΅ΠΊΡΠ° ΠΎΡ Π΄Π΅ΠΉΠ½ΠΎΡΡΡΠ°. ΠΡΠ΅Π½Π΅Π½ΠΈ ΡΠ° ΠΎΡΠ½ΠΎΠ²Π½ΠΈΡΠ΅ Π΅Π»Π΅ΠΌΠ΅Π½ΡΠΈ Π·Π° Π²Π°Π»ΠΈΠ΄Π½ΠΎΡΡΡΠ° Π½Π° Π³Π΅Π½Π΅ΡΠΈΡΠ½ΠΈΡ ΡΠ΅ΡΡ - Π½Π΅Π³ΠΎΠ²Π°ΡΠ° ΡΡΠ²ΡΡΠ²ΠΈΡΠ΅Π»Π½ΠΎΡΡ, ΡΠΏΠ΅ΡΠΈΡΠΈΡΠ½ΠΎΡΡ ΠΈ ΠΏΠΎΠ·ΠΈΡΠΈΠ²Π½Π° ΠΏΡΠ΅Π΄ΠΈΠΊΡΠΈΠ²Π½Π° ΡΡΠΎΠΉΠ½ΠΎΡΡ. ΠΡΠΏΡΠ΅ΠΊΠΈ ΠΌΠ°ΡΠΎΠ²ΠΎ Π½Π°Π²Π»ΠΈΠ·Π°ΡΠΈΡΠ΅ Π½ΠΎΠ²ΠΈ Π½Π΅ΠΈΠ½Π²Π°Π·ΠΈΠ²Π½ΠΈ Π³Π΅Π½Π΅ΡΠΈΡΠ½ΠΈ ΠΈΠ·ΡΠ»Π΅Π΄Π²Π°Π½ΠΈΡ, Π±ΠΈΠΎΡ
ΠΈΠΌΠΈΡΠ½ΠΈΡΡ ΡΠΊΡΠΈΠ½ΠΈΠ½Π³ ΠΎΡΡΠ°Π²Π° Π½Π°ΠΉ-ΡΠΈΡΠΎΠΊΠΎ ΠΏΡΠΈΠ»ΠΎΠΆΠΈΠΌΠΈΡ ΠΌΠ΅ΡΠΎΠ΄ ΠΈ Π·Π°Π΅Π΄Π½ΠΎ Ρ ΠΌΠ΅Π΄ΠΈΠΊΠΎ-Π³Π΅Π½Π΅ΡΠΈΡΠ½Π°ΡΠ° ΠΊΠΎΠ½ΡΡΠ»ΡΠ°ΡΠΈΡ ΡΠ΅Π»ΠΈ Π΄Π° ΠΎΡΠΈΠ³ΡΡΠΈ ΠΎΠΏΡΠΈΠΌΠ°Π»Π½Π° ΠΏΡΠ΅Π½Π°ΡΠ°Π»Π½Π° Π³ΡΠΈΠΆΠ°, Ρ Π²ΡΠ·ΠΌΠΎΠΆΠ½ΠΎ Π½Π°ΠΉ-Π΄ΠΎΠ±ΡΡ ΡΠ΅Π·ΡΠ»ΡΠ°Ρ ΠΊΠ°ΠΊΡΠΎ Π·Π° ΠΌΠ°ΠΉΠΊΠ°ΡΠ°, ΡΠ°ΠΊΠ° ΠΈ Π·Π° ΠΏΠ»ΠΎΠ΄Π°
Acute myelogenous leukemia β current recommendations and approaches in molecular-genetic assessment
Acute myelogenous leukemia is a multi-step hematological malignancy, affecting function, growth, proliferation and cell cycle of myeloid precursors. Overall assessment of patients with the disease requires among everything else, a comprehensive investigation of the genetic basis through various methods such as cytogenetic and molecular-genetic ones. This clarification provides diagnostic refinement and carries prognostic and predictive value in respect of essential therapeutic choices
16p11.2 Duplication Syndrome - a Case Report
16p11.2 duplication syndrome is a rare disorder, often associated with intellectual disability, attention deficit, hyperactivity disorder, and a predisposition to epilepsy and schizophrenia. There are no specific dysmorphic features for this genetic condition, but micro-cephaly, micrognathia and hypertelorism could be present. We report a case of 16p11.2 duplication syndrome which has the typical clinical presentation – slight facial dysmorphism, impaired intellectual development, and autistic behavior. Whole-exome sequencing was performed, but no pathogenic or likely pathogenic mutations were identified. Array comparative genomic hybridization analysis established the diagnosis of 16p11.2 duplication syndrome, which illustrates the importance of this method when diagnosing children with unexplained intellectual disability.&nbsp
Comparison between thrombophilic gene polymorphisms among high risk patients
Introduction. The purpose of this study was to compare the role of the thrombophilic variants among two groups of high risk patients with vascular disorders and recurrent pregnancy loss