Hereditary diseases medical genetic counseling presentation. Presentation on genetics on the topic "medical genetic counseling". Syndrome - a stable combination of symptoms

Federal Democratic Republic Ethiopia Area: sq. km. Population: 55 million people Capital: Addis Ababa Peoples: Oromo (40%), Amhara and Tigrean (32%), Sidamo (9%), Shankella (6%), Somalia (6%), Afar (4%), Gurage (2%) Language: Amharic, Tigrinwa, Orominga, Guagaringa, Somali, Arabic, English Religion: Muslim, Ethiopian Orthodoxy, Animism Federal Republic Sectors of the national economy: agriculture, processing of agricultural products Main partners: USA, Germany, Japan, Italy Health risks: bilharzia (schistosomiasis), dirty drinking water, AIDS, malaria, parasites and landmines. You need to be vaccinated against yellow fever. Time: GMT + 3 hours System of measures and weights: metric Mains voltage: 220V or 240V, 50 Hz Federal Democratic Republic of Ethiopia Area: sq. km. Population: 55 million people Capital: Addis Ababa Peoples: Oromo (40%), Amhara and Tigrean (32%), Sidamo (9%), Shankella (6%), Somalia (6%), Afar (4%), Gurage (2%) Language: Amharic, Tigrinwa, Orominga, Guagaringa, Somali, Arabic, English Religion: Muslim, Ethiopian Orthodoxy, Animism Government: Federal Republic Economic sectors: agriculture, agricultural products processing Main partners: USA, Germany, Japan, Italy Risks to health: bilharzia (schistosomiasis), dirty drinking water, AIDS, malaria, parasites and landmines. You need to be vaccinated against yellow fever. Time: GMT + 3 hours System of measures and weights: metric Mains voltage: 220V or 240V, 50 Hz


Ethiopia Ethiopia Ethiopia is the third most populous country in Africa, the oldest Christian country in Africa, and one of the oldest in the world, after Armenia. Unlike other African countries, it has never been colonized. In the past, the country was often called Abyssinia. Ethiopia consists of several former semi-independent region-states, the largest of which were Amhara, Gojjam, Shoa and Tigre. The capital of Ethiopia - Addis - Ababa Ethiopia is the third most populous country in Africa, the oldest Christian country in Africa, and one of the oldest in the world, after Armenia. Unlike other African countries, it has never been colonized. In the past, the country was often called Abyssinia. Ethiopia consists of several former semi-independent region-states, the largest of which were Amhara, Gojjam, Shoa and Tigre. The capital of Ethiopia is Addis Ababa.


Animals of Ethiopia… Animals of the Ethiopian region: 1 lion and lioness; 2 fennec fox; 3 leopard; 4 two-horned rhinoceros; 5 African elephant; 6 hippopotamus; 7 zebra; 8 giraffe; 9 hyrax; 10 antelope beyza; 11 eland; 12 kaffir - buffalo; 13 warthog; 14 kudu; 15 okapi; 16 wildebeest; gorilla; 18 aardvark; 19 mandrills; 20 spotted hyena; 21 hairy frogs; 22 monkeys; 23 African ostrich; 24 secretary; 25 chameleon; 26 Nile crocodile; 27 marabou. Animals of the Ethiopian region: 1 lion and lioness; 2 fennec fox; 3 leopard; 4 two-horned rhinoceros; 5 African elephant; 6 hippopotamus; 7 zebra; 8 giraffe; 9 hyrax; 10 antelope beyza; 11 eland; 12 kaffir - buffalo; 13 warthog; 14 kudu; 15 okapi; 16 wildebeest; gorilla; 18 aardvark; 19 mandrills; 20 spotted hyena; 21 hairy frogs; 22 monkeys; 23 African ostrich; 24 secretary; 25 chameleon; 26 Nile crocodile; 27 marabou.


Climate Climate Ethiopia's climate is largely dependent on altitude. In the tropical zone, located below 1830 m above sea level, the average annual temperature is about +27°C, and the average annual rainfall is about 610 mm. In the subtropical zone (m above sea level), the average annual temperature is about + 22 ° C, and the precipitation rate is from 510 to mm. Above m above sea level lies a temperate climate zone with an average annual temperature of about + 16 ° C and an average rainfall of up to mm. The rainy season usually lasts from mid-June to September, sometimes in February or March there is a short rainy season. Ethiopia's climate is largely dependent on altitude. In the tropical zone, located below 1830 m above sea level, the average annual temperature is about +27°C, and the average annual rainfall is about 610 mm. In the subtropical zone (m above sea level), the average annual temperature is about + 22 ° C, and the precipitation rate is from 510 to mm. Above m above sea level lies a temperate climate zone with an average annual temperature of about + 16 ° C and an average rainfall of up to mm. The rainy season usually lasts from mid-June to September, sometimes in February or March there is a short rainy season.



Language Language Amharic (Amarinya) - state, tiger, galla, English, Arabic, about 70 different local languages ​​are used. The entire population is divided into two main language groups - the Semites, who live in the northern and central regions of the country, and the Cushites, who live mostly in southern and eastern Ethiopia. Amharic (amarinya) - state, tiger, galla, English, Arabic, about 70 different local languages ​​are used. The entire population is divided into two main language groups - the Semites, who live in the northern and central regions of the country, and the Cushites, who live mostly in southern and eastern Ethiopia.


Population. Population. The peoples of E. speak predominantly. in Semitic and Cushitic languages. a single Semitic-Hamitic language family: Amhara, Gurage, Argobba, Harari, Ti-grai, Tigre and part of the Beni-Amer tribes in Semitic languages, Galla (Gallas), Somalis, Danakils, Saho, Agau, Sidamo, Beja, a number of tribes Beni-Amer in Cushitic. The most numerous the people of E. are the Amhara, inhabiting Ch. arr. center, and partly sowing. E. (prov. Shoa, Gojjam, Begemder). In addition, the Amhara live in Prov. Vollo, Arussi, Kaffa, Vol-leg, Harar, Sidamo. Amharic. is state; half of us speak it. countries, teaching in schools and legal proceedings are being carried out, an Ethiopian lit-pa is being created. Of the other peoples, the Gauls are the most numerous (56 million people), followed by the Somalis. By relpg. accessories more than 1/2 us. E. Christians of the Monophysite persuasion; most of the rest of us. Muslims. Among the inhabitants of Yu and 3, various pre-Christian and pre-Islamic beliefs are still preserved. The most densely populated are the central plateaus, parts of E., where the density varies from 10 to 50 people. per 1 km2. Lives in the village approx. 90% of us. Among the mountains inhabitants are Greeks, Armenians, Arabs, Indians. The peoples of E. speak predominantly. in Semitic and Cushitic languages. a single Semitic-Hamitic language family: Amhara, Gurage, Argobba, Harari, Ti-grai, Tigre and part of the Beni-Amer tribes in Semitic languages, Galla (Gallas), Somalis, Danakils, Saho, Agau, Sidamo, Beja, a number of tribes Beni-Amer in Cushitic. The most numerous the people of E. are the Amhara, inhabiting Ch. arr. center, and partly sowing. E. (prov. Shoa, Gojjam, Begemder). In addition, the Amhara live in Prov. Vollo, Arussi, Kaffa, Vol-leg, Harar, Sidamo. Amharic. is state; half of us speak it. countries, teaching in schools and legal proceedings are being carried out, an Ethiopian lit-pa is being created. Of the other peoples, the Gauls are the most numerous (56 million people), followed by the Somalis. By relpg. accessories more than 1/2 us. E. Christians of the Monophysite persuasion; most of the rest of us. Muslims. Among the inhabitants of Yu and 3, various pre-Christian and pre-Islamic beliefs are still preserved. The most densely populated are the central plateaus, parts of E., where the density varies from 10 to 50 people. per 1 km2. Lives in the village approx. 90% of us. Among the mountains inhabitants are Greeks, Armenians, Arabs, Indians.


Economy. Economy. general characteristics economy. E. agr. the country. In with. x-ve is dominated by feud, relations intertwined in a number of districts with the remnants of the tribal system and developing capitalist. relationships. Before the 2nd World War in the economy of Estonia, it means that the positions belonged to the Italian. monopolies, which retained them after the war, especially in Eritrea. At the same time, the penetration into the country of the English, and especially the Amer. capital, intensified the activity of the Western-German firms. At the same time, a state government was established in E. monopoly on the extraction of gold, salt, on the production and sale of tab. products. State-in together with a private Ethiopian, m foreign. capital participates in a number of prospects processing. prom. Along with this, it creates favorable conditions for foreign investments, while limiting the export of capital and profits from the country. In 1962, a second 5-year program for the development of the country was drawn up. 2 billion Ethiopian dollars attention is paid to x-woo and processing. prom. It is planned to carry out agrarian reforms. As one of the most important objects of the program, it is envisaged to build an oil refinery with the help of the USSR. plant in Assab with a capacity of up to 500 thousand tons of crude oil per year. General characteristics of the economy. E. agr. the country. In with. x-ve is dominated by feud, relations intertwined in a number of districts with the remnants of the tribal system and developing capitalist. relationships. Before the 2nd World War in the economy of Estonia, it means that the positions belonged to the Italian. monopolies, which retained them after the war, especially in Eritrea. At the same time, the penetration into the country of the English, and especially the Amer. capital, intensified the activity of the Western-German firms. At the same time, a state government was established in E. monopoly on the extraction of gold, salt, on the production and sale of tab. products. State-in together with a private Ethiopian, m foreign. capital participates in a number of prospects processing. prom. Along with this, it creates favorable conditions for foreign investments, while limiting the export of capital and profits from the country. In 1962, a second 5-year program for the development of the country was drawn up. 2 billion Ethiopian dollars attention is paid to x-woo and processing. prom. It is planned to carry out agrarian reforms. As one of the most important objects of the program, it is envisaged to build an oil refinery with the help of the USSR. plant in Assab with a capacity of up to 500 thousand tons of crude oil per year.



Agriculture... Agriculture ... Agriculture gives St. 70% national income. Most of the land belongs to the feudal lords, the church and the royal house. The overwhelming majority of peasants are landless and have little land. In a number of provinces communal landownership has still been preserved. In the north of the country, the shifting system of agriculture is practiced, in other districts it is slash-and-burn. The yield is low. In order to increase the level of development with. x-va production creates experimental plots, exemplary field farmers. and livestock breeder. farms, demonstration coffee plantations, orchards. However, ch. a brake on the development of x-va continue to be a feud, relations. The government carried out certain measures aimed at weakening the feuds, the duties of the peasants. Agriculture gives St. 70% national income. Most of the land belongs to the feudal lords, the church and the royal house. The overwhelming majority of peasants are landless and have little land. In a number of provinces communal landownership has still been preserved. In the north of the country, the shifting system of agriculture is practiced, in other districts it is slash-and-burn. The yield is low. In order to increase the level of development with. x-va production creates experimental plots, exemplary field farmers. and livestock breeder. farms, demonstration coffee plantations, orchards. However, ch. a brake on the development of x-va continue to be a feud, relations. The government carried out certain measures aimed at weakening the feuds, the duties of the peasants.


Vegetation. Vegetation. The plains and plateaus are dominated by savannah vegetation. Forests rising high into the mountains occupy rock valleys (galsray forests) and mountain slopes (tree-like junipers). On arid B, there is sparse semi-desert and desert vegetation. On the Abyssinian Highlands, the altitudinal zonality of vegetation: savannas, tropical. forests, light forests, alpine vegetation of the tropics and mountain meadows. The plains and plateaus are dominated by savannah vegetation. Forests rising high into the mountains occupy rock valleys (galsray forests) and mountain slopes (tree-like junipers). On arid B, there is sparse semi-desert and desert vegetation. On the Abyssinian Highlands, the altitudinal zonality of vegetation: savannas, tropical. forests, light forests, alpine vegetation of the tropics and mountain meadows.


Minerals ... Minerals ... Ethiopia is rich in various minerals (gold, platinum, manganese ...), but the bowels of the earth are still poorly understood. The country has developed mainly textile and food industry, leather processing, there are small steel and other factories. Ethiopia is rich in a variety of minerals (gold, platinum, manganese ...), but the bowels of the earth are still poorly understood. The country has developed mainly textile and food industries, leather processing, there are small metallurgical and other factories.

Human genetics with the basics of medical genetics: textbook. for student.institutions of medium.professional.educational institutions/ V.N.Gorbunova. - M.: Publishing Center "Academy", 2012 pp. Medical genetics: a textbook for medical colleges / Ed. N.P. Bochkova. - M.: GEOTAR-Media, 2008 p., HOMEWORK Lecture materials 9. For independent work (according to Gorbunov) Outline: Glossary of terms p.230




Medical genetic counseling is a specialized type of medical care for the population aimed at the prevention of hereditary diseases. The purpose of medical genetic counseling is to prevent the birth of children with incurable congenital diseases in the general population sense is to reduce the burden of pathological heredity, and the purpose of a separate consultation is to help the family make the right decision on family planning




Prospective Counseling – Pre or Early Pregnancy Counseling Retrospective counseling is provided after the birth of a sick child (congenital malformations, growth retardation and mental retardation) regarding the health of future children.


Screening of newborns Congenital hypothyroidism is a violation of the structure of the thyroid gland and defects in the biosynthesis of hormones of this gland. Phenylketonuria is a genetic disease associated with a deficiency or absence of an enzyme that is necessary for the digestion of phenylalanine into torosine. Cystic fibrosis is a severe hereditary disease, accompanied by an increase in the viscosity of gland secretions Adrenogenital syndrome - this disease is caused due to the absence of one of the enzymes responsible for the synthesis of cortisol Galactosemia is a metabolic disorder, there is no enzyme that converts galactose into glucose. On the 4-5th day, blood is taken from the child


Medical genetic counseling is recommended primarily for: Women over 35; Families where there have already been cases of the birth of children with congenital defects; Women who have had miscarriages, especially in the early stages (up to 12 weeks); Women with endocrine disorders; Families living in ecologically unfavorable areas that have contact with chemical and radiation mutagens; Pregnant women with abnormalities detected during ultrasound and biochemical examination.


Stages of medical genetic counseling 1. Diagnosis Counseling always begins with a clarification of the diagnosis of a hereditary disease, since an accurate diagnosis is a necessary prerequisite for any consultation. Clarification of the diagnosis in the medical genetic consultation is carried out using genetic analysis. At the same time, in all cases, without exception, the genealogical method of research is used. 2. Prediction Genetic risk can be determined either by theoretical calculations using the methods of genetic analysis and variation statistics, or by empirical data. 3. Conclusion. To achieve the goal of counseling, when talking with patients, one should take into account their level of education, the socio-economic situation of the family, the structure of the personality and relationships in the family. The interpretation of risk must be adapted to each case individually.


Prenatal diagnosis of hereditary diseases is a complex, rapidly developing area of ​​medicine using ultrasound diagnostics, surgical techniques and laboratory methods. Methods of perinatal diagnostics can be divided into three groups: - screening, - non-invasive, - invasive (with subsequent laboratory diagnostics).


Characteristics of the main types of population genetic screening programs (according to WHO materials) Type of screening program Primary goal Secondary goal Preconceptual Fetal health risk reduction Informed choice for childbearing Prenatal Identification of married couples at risk of having a sick child and affected fetuses during a possible abortion Diagnosis of an affected fetus ; prenatal or neonatal treatment Neonatal Identification of patients for early treatment Disease frequency data Population-wide Identification of high-risk factors Prevention, early diagnosis and treatment of common diseases




To the sifters laboratory methods include the determination in the blood serum of a pregnant woman of substances called serum markers of matter fetoprotein - a protein produced by the fetal liver in the prenatal period, its content changes during pregnancy, human chorionic gonadotropin, unbound estriol and some other substances


Recommended methods and tests during pregnancy Duration of pregnancy (weeks) Methods and tests First visit (as early as possible) Determination of hemoglobin and hematocrit. General analysis urine, screening for urinary tract infections Determination of blood type and Rh-phenotype, anti-HBs antibody titer in Rh-negative women. Titer of anti-rubella antibodies Wassermann test Cytology of cervical smear Determination of HBs-antigen in the blood i Ultrasound examination of the fetus and placenta Amniocentesis or chorionic biopsy according to indications i Level of -fetoprotein, as well as chorion-gonadotropin and free estriol in the blood i Screening for diabetes repeated determination of hemoglobin and blood hematocrit, urinalysis for protein, sugar, non-stress test blood hematocrit, bacteriological examination of a vaginal smear


Non-invasive methods are methods for examining the fetus without surgery. Currently, they only apply ultrasound procedure. For medical reasons, 3D ultrasound can be performed starting from weeks.





Amniocentesis is a test performed by piercing the abdominal wall, uterus, and bladder with a thin needle to collect a sample of amniotic fluid. Genetic amniocentesis is a study of the chromosome set of the fetus, it is usually performed between the 15th and 20th weeks.



Chorion and placentobiopsy Chorion - and placentobiopsy have been used since the late 80s. These methods are used to obtain a small amount of chorionic villi or pieces of the placenta during the period from the 8th to the 16th week of pregnancy. There is no fundamental difference between the indications for the use of these two methods of biopsy. Cordocentesis Cordocentesis - taking blood from the umbilical cord is carried out from the 20th week of pregnancy. The procedure is carried out under ultrasound guidance. Blood samples are an object for cytogenetic (lymphocytes are cultivated), molecular genetic and biochemical methods for diagnosing hereditary diseases. In this case, it is possible to... Biopsy of fetal tissues Biopsy of fetal tissues as a diagnostic procedure is carried out in the 2nd trimester of pregnancy under ultrasound control. To diagnose severe skin lesions (ichthyosis, epidermolysis), a biopsy of the fetal skin is taken, followed by a pathomorphological study. Fetal muscle biopsy is performed for diagnosis.


Fetoscopy Fetoscopy (introduction of the probe and examination of the fetus) with modern flexible optical technology does not present great difficulties. However, the method of visual examination of the fetus to detect congenital malformations is used only for special indications. It is performed in the 1st week of pregnancy.


According to the degree of threat (risk) of recurrence in the family of hereditary diseases, they are divided into 3 groups: 1. diseases with a high degree of genetic risk (1: 4), which include diseases with autosomal dominant, autosomal recessive and sex-linked type of inheritance ; 2. diseases with a moderate degree of genetic risk (less than 1:10); these include hereditary diseases caused by fresh mutations, as well as chromosomal diseases and diseases with a polygenic type of inheritance, i.e. a significant part of congenital deformities and hereditary diseases that develop against a genetically unfavorable background; 3. diseases characterized by a low risk of recurrence or total absence risk.



"Chromosomal diseases" - Mendel's 2nd law - the law of splitting. Chromosomal. Scheme of the first and second law of Mendel. Checked by the teacher: Kalentyeva N.V. Semey, 2012 Progeria. Monogenic. Ichthyosis. Polygenic. Conditions for the implementation of Mendel's laws.

"Genetics and human hereditary diseases" - Recessive? Among Asians, people with the third blood group predominate. Every year, 90 thousand mentally retarded children are born in the world. The occurrence of blood types in different human populations is different. 3. Autosomal recessive inheritance Albinism Phenylketonuria Sickle cell anemia. How is human genetics studied?

"Human Genetic Diseases" - G. Heine Our doctors should, like the ABC, know the laws of heredity. Tests for the definition of color blindness. Children with PKU are born without any signs of the disease. Daltonism. Chromosome - 21 is not in double, but in triple quantity (trisomy). Klinefelter syndrome. In parents after 40 years, the incidence of sick children increases dramatically.

"Celiac disease" - Hereditary diseases of the gastrointestinal tract - Celiac disease, congenital diarrhea. Total disruption of membrane digestion and absorption. Diagnostics. The appointment of vitamins, first of all, fat-soluble, preferably in easily digestible (water-soluble) forms. Repeated histological and serological studies.

"Hereditary syndromes and diseases" - http://l.foto.radikal.ru/0612/08e0016d1d34.jpg. Chromosomal diseases. The probability of developing the disease in the offspring is 50%. http://images.yandex.ru/yandpage?&q=1900511643&p=0&ag=ih&text=%E8%F5%F2%E8%EE%E7%20%ED%E5%20%F1%F6%E5%EF%EB %E5%ED%ED%FB%E9%20%F1%20%EF%EE%EB%EE%EC&rpt=simage.

"Down's disease" - Limitation of ideas, distractions and generalizations. There are also such violations of the visual analyzer as astigmatism, strabismus. Clinic of violation. Violations in the work of analyzers. The concept of "Down's syndrome". Domestic - Lurie, Zabramnaya. Teaching children with Down syndrome. The frequency of birth of children with Down syndrome is approximately 1 in 600-800 newborns.

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