Hereditary diseases Medico genetic consulting presentation. Presentation on genetics on the topic "Medico-genetic consulting". Syndrome-sustainable combination of symptoms

Federal Democratic Republic Ethiopia Square: square. km. Population: 55 million people Capital: Addis Ababa Peoples: Oromo (40%), Amhara and Tigerian (32%), Sidamo (9%), Shankhella (6%), Somalia (6%), AFAR (4%), Google (2%) Language: Amharic, Tigrinva, Oroming, Guagaring, Somalia, Arabic, English Religion: Muslim, Ethiopian Orthodoxy, Animism Public Device: Federal Republic Industries of the national industry: Agriculture, processing of agricultural products Main partners: USA, Germany, Japan, Italy Health risks: Bilgar (schistosomyaz), dirty drinking water, AIDS, malaria, parasites and anti-personnel mines. It is necessary to make vaccinations from the yellow fever. Time: Greenwich + 3 hours System of measures and scales: metric tension in the power grid: 220V or 240V, 50 Hz Federal Democratic Republic Ethiopia Square: kV. km. Population: 55 million people Capital: Addis Ababa Peoples: Oromo (40%), Amhara and Tigerian (32%), Sidamo (9%), Shankhella (6%), Somalia (6%), AFAR (4%), Google (2%) Language: Amharic, Tigrinva, Orojing, Guagaring, Somalia, Arabic, English Religion: Muslim, Ethiopian Orthodoxy, Animism Public Device: Federal Republic of the People's Logging Industry: Agriculture, Processing of agricultural products Main partners: USA, Germany, Japan, Italy Risks for Health: Bilgar (schistosomyaz), dirty drinking water, AIDS, malaria, parasites and anti-personnel mines. It is necessary to make vaccinations from the yellow fever. Time: Greenwich + 3 hours System of measures and scales: metric tension in the mains: 220V or 240V, 50 Hz


Ethiopia Ethiopia Ethiopia is the third population Country in Africa, the oldest Christian country in Africa, and one of the oldest in the world after Armenia. Unlike other African countries, never colonized. In the past, the country was often called Abyssinian. Ethiopia consists of several former semi-independent state-of-state areas, the largest of which were Amhara, goazh, Shoa and Tiger. The capital of Ethiopia - Addis - Ababa Ethiopia - the third population of the country in Africa, the oldest Christian country in Africa, and one of the oldest in the world after Armenia. Unlike other African countries, never colonized. In the past, the country was often called Abyssinian. Ethiopia consists of several former semi-independent state-of-state areas, the largest of which were Amhara, goazh, Shoa and Tiger. The capital of Ethiopia - Addis - Ababa


Animals Ethiopia ... Animals of the Ethiopian region: 1 lion and lioness; 2 fenmets fen 3 leopard; 4 twisted rhino; 5 African elephant; 6 hippo; 7 zebra; 8 giraffe; 9 Daman; 10 Ablope Bees; 11 Antilope Cannes; 12 Kafrsky- buffalo; 13 warthog; 14 Antelope Kudo; 15 Okapi; 16 Antilope GNU; gorilla; 18 tubes; 19 Mandril; 20 spotted hyena; 21 Hairy frog; 22 marty; 23 African Ostrich; 24 Secretary; 25 chameleon; 26 Nile crocodile; 27 Marabou. Animals of the Ethiopian region: 1 lion and lioness; 2 fenmets fen 3 leopard; 4 twisted rhino; 5 African elephant; 6 hippo; 7 zebra; 8 giraffe; 9 Daman; 10 Ablope Bees; 11 Antilope Cannes; 12 Kafrsky- buffalo; 13 warthog; 14 Antelope Kudo; 15 Okapi; 16 Antilope GNU; gorilla; 18 tubes; 19 Mandril; 20 spotted hyena; 21 Hairy frog; 22 marty; 23 African Ostrich; 24 Secretary; 25 chameleon; 26 Nile crocodile; 27 Marabou.


The climate climate climate Ethiopia largely depends on the height above sea level. In the tropical zone located below 1830 m above sea level, the average annual temperature is about + 27 ° C, and the average annual precipitation rate is about 610 mm. In the subtropical zone (m above sea level), the average annual temperature is about + 22 ° C, and the rate of precipitation from 510 to mm. Above m above sea level is a moderate climate area with an average annual temperature of about + 16 ° C and an average precipitation rate from to mm. The rainy season usually continues from mid-June to September, sometimes in February or march there is a short rainy season. The climate of Ethiopia largely depends on the height above sea level. In the tropical zone located below 1830 m above sea level, the average annual temperature is about + 27 ° C, and the average annual precipitation rate is about 610 mm. In the subtropical zone (m above sea level), the average annual temperature is about + 22 ° C, and the rate of precipitation from 510 to mm. Above m above sea level is a moderate climate area with an average annual temperature of about + 16 ° C and an average precipitation rate from to mm. The rainy season usually continues from mid-June to September, sometimes in February or march there is a short rainy season.



Language Language Amharic (Amarya) - State, Tigre, Galla, English, Arabic, employs about 70 different local languages. The entire population is divided into two main language groups - seven, living in the northern and central regions of the country, and shorter countries in the most part in South and Eastern Ethiopia. Amhar (Amarya) - State, Tigre, Galla, English, Arabic, about 70 different local languages \u200b\u200bare used. The entire population is divided into two main language groups - seven, living in the northern and central regions of the country, and the drivers living in the most part in South and East Ethiopia.


Population. Population. The peoples of E. speak exp. At the Semitic and Kushitsky Yaz. Unified Seven Hamitsky Language Family: Amhara, Google, Argobba, Harari, Ti-Grai, Tiger and Part of Beni-Amer tribes on Semitic Yaz., Gallace (Gallasi), Somalis, Danakli, Saho, Agau, Sidamo, Besj, a number of tribes Beni-Amer on the Kushitsky Yaz. The most numerous The people of E. are Amhara inhabiting ch. arr. Center, and partially serving. E. (Prov. Shoa, Goazh, Bendemer). In addition, Amhara live in the prov. Wall, Arussus, Caffe, Will Lege, Harar, Sidamo. Amharic Yaz. is a state; He speaks half us. Countries, teaching in schools and legal proceedings are created, the Ethiopian lit-PA is created. From other nations are the most numerous Galla (56 million people), the Somalis follows them. On relp. Accessories more than 1/2 us. E. Christians of the Monophimitsky sense; Most of the rest of us. Muslim. Among residents of Yu and 3 are still preserved various pre-Christian and associate beliefs. The most densely populated the plateau center, parts of E., where the density ranges from 10 to 50 people. per 1 km2. In the village lives approx. 90% of us. Among the mountains. Residents have Greeks, Armenians, Arabs, Indians. The peoples of E. speak exp. At the Semitic and Kushitsky Yaz. Unified Seven Hamitsky Language Family: Amhara, Google, Argobba, Harari, Ti-Grai, Tiger and Part of Beni-Amer tribes on Semitic Yaz., Gallace (Gallasi), Somalis, Danakli, Saho, Agau, Sidamo, Besj, a number of tribes Beni-Amer on the Kushitsky Yaz. The most numerous The people of E. are Amhara inhabiting ch. arr. Center, and partially serving. E. (Prov. Shoa, Goazh, Bendemer). In addition, Amhara live in the prov. Wall, Arussus, Caffe, Will Lege, Harar, Sidamo. Amharic Yaz. is a state; He speaks half us. Countries, teaching in schools and legal proceedings are created, the Ethiopian lit-PA is created. From other nations are the most numerous Galla (56 million people), the Somalis follows them. On relp. Accessories more than 1/2 us. E. Christians of the Monophimitsky sense; Most of the rest of us. Muslim. Among residents of Yu and 3 are still preserved various pre-Christian and associate beliefs. The most densely populated the plateau center, parts of E., where the density ranges from 10 to 50 people. per 1 km2. In the village lives approx. 90% of us. Among the mountains. Residents have Greeks, Armenians, Arabs, Indians.


Economy. Economy. general characteristics Economy. E. Agr. the country. In p. X-ve is dominated by the feud, relationships intertwined in a number of district with the remnants of the generic system and developing capital capitalist. relationships. Before the 2nd World War in Economics, E. means positions belonged to Ital. Monopolies, which preserved them after the war, especially in Eritrea. At the same time, angles penetration into the country, and especially Amer. Capital, intensified the activities of Zap.-Germ, firms. At the same time, E. established state. Monopoly on gold mining, salt, on production and sales tab. products. State-in conjunction with private Ethiopian, Mostr. Capital participates in a number of pr-Tiy. prom. Along with this, it creates favorable conditions for foreign. Investments, limiting, with the export of capital and profits from the country. In 1962, a second 5-year-old program for the development of the country on its implementation is allocated from the country of OK. 2 billion Ethiopian, dollars. Attention is paid to. XV and process. prom. Agro is designed. reforms. As one of the most important objects of the Program, it is provided with the help of the USSR oil refiner. Z-yes 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 p. X-ve is dominated by the feud, relationships intertwined in a number of district with the remnants of the generic system and developing capital capitalist. relationships. Before the 2nd World War in Economics, E. means positions belonged to Ital. Monopolies, which preserved them after the war, especially in Eritrea. At the same time, angles penetration into the country, and especially Amer. Capital, intensified the activities of Zap.-Germ, firms. At the same time, E. established state. Monopoly on gold mining, salt, on production and sales tab. products. State-in conjunction with private Ethiopian, Mostr. Capital participates in a number of pr-Tiy. prom. Along with this, it creates favorable conditions for foreign. Investments, limiting, with the export of capital and profits from the country. In 1962, a second 5-year-old program for the development of the country on its implementation is allocated from the country of OK. 2 billion Ethiopian, dollars. Attention is paid to. XV and process. prom. Agro is designed. reforms. As one of the most important objects of the Program, it is provided with the help of the USSR oil refiner. Z-yes in Assab with a capacity of up to 500 thousand tons of crude oil per year.



Agriculture... Agriculture ... Agriculture gives St. 70% NC. income. Most of the lands belongs to the feudalists, church and the reigning house. The overwhelming mass of the peasants of the landless and is minor. A number of provinces have also survived community land tenure. On from the country, the crossing system of agriculture is practiced, in Dr. R-Na linked fire. Yield is low. In order to increase the level of development with. X-Va Prospect creates experienced areas, exemplary fields. and animal husbandry. Farms, demonstration coffee plantations, gardens. However, ch. brake in development with. H-Wa continue to remain a feud relationship. Prospect made some events aimed at weakening the feud, the mantles of the peasants. Agriculture gives sv. 70% NC. income. Most of the lands belongs to the feudalists, church and the reigning house. The overwhelming mass of the peasants of the landless and is minor. A number of provinces have also survived community land tenure. On from the country, the crossing system of agriculture is practiced, in Dr. R-Na linked fire. Yield is low. In order to increase the level of development with. X-Va Prospect creates experienced areas, exemplary fields. and animal husbandry. Farms, demonstration coffee plantations, gardens. However, ch. brake in development with. H-Wa continue to remain a feud relationship. Prospect made some events aimed at weakening the feud, the mantles of the peasants.


Vegetation. Vegetation. Savannaya vegetation prevails on the plains and the plateau. Raised high in the mountains of the forest occupy the Rock Valley (Gals Reinwater) and the slopes of the mountains (tree-like juniper-nicks). On arid in a rarefied semi-desert and desert vegetation. On Abyssinian Highlands High-rise Location of vegetation: Savannah, tropic. Forests, palpal, alpine vegetation of tropics and mountain meadows. Savannaya vegetation prevails on the plains and the plateau. Raised high in the mountains of the forest occupy the Rock Valley (Gals Reinwater) and the slopes of the mountains (tree-like juniper-nicks). On arid in a rarefied semi-desert and desert vegetation. On Abyssinian Highlands High-rise Location of vegetation: Savannah, tropic. Forests, palpal, alpine vegetation of tropics and mountain meadows.


Minerals ... Useful fossils ... Ethiopia is rich in various fossil (gold, platinum, manganese ...), but the subsoil of the Earth is still weakly studied. In the country is mainly spectile and food industry, skin treatment, there are small metallurgical and other plants. Ethiopia is rich in various fossil (gold, platinum, manganese ...), but the subsoil of the Earth has been studied still weakly. The country is mainly developed by the Tax and Food Industry, skin treatment, there are small metallurgical and other plants.

Human genetics with the basics of medical genetics: studies. For the studies of the Mediation environments. Depositor. For V.N. Gorbunova. - M.: Publishing center "Academy", 2012 Page Medical Genetics: Textbook for Medical Colleges / Ed. N.P. Bochakov. - M.: Gootar Media, 2008 pages, homework Lectures 9. For independent work (according to Gorbunov), Act: Dictionary of Terms p.230




Medical and genetic counseling is a specialized type of medical care to the population aimed at preventing hereditary diseases. The purpose of medical and genetic consulting Prevention of children with incurable congenital diseases in the general language is a reduction in cargo of pathological heredity, and the goal of a separate consultation is to help the family in making the right decision on family planning issues




Prospective consulting - consulting before the occurrence of pregnancy or in early her deadlines, retrospective consulting is carried out after the birth of a sick child (congenital defects, physical development delay and mental retardation) regarding the health of future children.


Screening of newborns Congenital hypothyroidism is a disruption of the thyroid structure and defects of biosynthesis of hormones of this gland. Phenylketonuria is a genetic disease associated with a deficit or lack of an enzyme that is necessary for the digestion of phenylalanine in Torosin. Mukobovysidosis is a heavy hereditary disease, accompanied by an increase in the viscosity of the secrets of the gland adrenogenital syndrome - this disease is caused due to the lack of one of the enzymes responsible for the synthesis of cortisol Galaktozhemia - a disruption of metabolism, there is no enzyme that converts galactose into glucose. For 4-5 days the child is taken blood


Medical and genetic counseling is recommended primarily: women older than 35 years; Families where there were already cases of birth of children with congenital vices; Women who had miscarriages, especially in early terms (up to 12 weeks); Women with endocrine disorders; Families living in environmentally unfavorable areas with contact with chemical and radiation mutagenes; Pregnant women with deviations detected during ultrasound and biochemical surveys.


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


The prenatal diagnosis of hereditary diseases is a complex, fast-growing area of \u200b\u200bmedicine, using ultrasound diagnostics, surgical techniques and laboratory methods. Perinatal diagnostic methods can be divided into three groups: - sifting, - non-invasive, - invasive (followed by laboratory diagnostics).


Characteristics of the main types of population-genetic screening programs (according to WHO materials) type of screening program Primary target Secondary target Preconceptional risk reduction in the health of the fetus Informed choice for childbearing Penatal identification of married couples with a risk of birth of a patient child and amazed fruits during a possible abortion ; Predatal or neonatal treatment Neonatal detection of patients for early treatment Data frequency data General population identification of high-risk factors Prevention, early diagnosis and treatment of widespread diseases




To sieving laboratory methods The definition of the blood serum of pregnant substances, called serum markers of fetoprotein - protein produced by the fetal liver in the intrauterine period, its content changes during pregnancy, human chorionic gonadotropin, unrelated estrix and some other substances


Recommended methods and tests during pregnancy The term of pregnancy (week) Methods and tests The first visit (if possible in the earliest time), determining the content of hemoglobinia of blood hemato-crit. General analysis urine, screening on urinary tract infection Definition of blood group and Rh-phenotype, anti-HBS antibody titer in rezes-negative women. Titre of anti-color antibodies Vasserman reaction cytology smear of the cervical cervical definition of HBS antigen in the blood I am ultrasonic research of the fetus and placenta amniocentesis or biopsy of chorion according to the testimony I am the level -Phetoprotein, as well as chorion-gonado-tropin and free blood chorion, I have screenshots on diabetes Remain definition of hemoglobin and blood hematocrit, urine analysis on protein, sugar, non-stroke test 28th repeated study of anti-RH-RH antibodies in rescovous pregnant women, prophylactic administration of anti-RN (0) -IMUNOGLOBULIN I ultrasound of the fetus, determination of hemoglobin, blood hematocrit, bacteriological study of vaginal smear


Non-invasive methods are methods of fruit surveys without surgery. Currently it applies to them only ultrasound procedure. For medical testimony, three-dimensional ultrasound can be carried out, starting from week.





Amniocentesis is a study that is carried out by puncture of a fine needle of the abdominal wall, uterus and a bubble for taking samples of ocoplace water. Genetic amniocentesis study of a chromosomal set of fetus, it is usually carried out between the 15th and 20th weeks.



Chorion and Plazetobiopia Chorion - and Plazetobiopsy are used since the late 80s. These methods are used to obtain a small amount of chorion vane or placenta pieces in the period from the 8th to the 16th week of pregnancy. The principal difference between indications for the use of these two methods of biopsy is not. Cordsenthesis Cordocentsis - Taking blood from the umbilical cord is carried out from the 20th week of pregnancy. The procedure is carried out under the control of the ultrasound. Blood samples are an object for cytogenetic (lymphocytes), molecular genetic and biochemical methods for the diagnosis of hereditary diseases are cultivated. In this case, it is possible ... The biopsy of the fetus fabrics biopsy of the fetus fabrics as a diagnostic procedure is carried out in the first trimester of pregnancy under the control of ultrasound. To diagnose severe lesions of the skin (ichthyosis, epidermolysis) make biopsy of the fetal skin with conducting, in the future, pathological research. The biopsy of the muscles of the fetus is produced for diagnosis.


Fetoscopy fetoscopy (the introduction of the probe and the expression of the fetus) during modern flexible optical technique does not represent large difficulties. However, the method of visual survey of the fetus to identify congenital malformations is applied only for special testimony. It is held at the week of pregnancy.


According to the degree of threat (risk) of the re-manifestation 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 linked with the floor 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 developing on a genetically unfavorable background; 3. Diseases characterized by a slight risk of re-manifestation or full absence risk.



"Chromosomal diseases" - the 2nd law of Mendel - the law of splitting. Chromosomal. The scheme of the first and second law of Mendel. Checked Lecturer: Kaletheva N.V. Families, 2012. Monogenic. Ichthyosis. Polygenic. Terms of implementation of Mendel's laws.

"Genetics and human hereditary diseases" - recessive? Amians are dominated by people with a third group of blood. Every year 90 thousand mentally retarded children are born in the world. The occurrence of blood groups in different populations of people are different. 3. Autosomal-recessive inheritance Albinism phenylketonuria Cerpovoid cell anemia. How do human genetics study?

"Human genetic diseases" - Russia, our doctors should, like alphabet, to know the laws of heredity. Dalton definition tests. Children with FCU are born without any signs of the disease. Daltonism. Chromosome - 21 turns out not in double, but in triple quantities (trisomy). Klinfelter syndrome. At the parents after 40 years, the frequency of the appearance of sick children increases sharply.

"Celiacia" - hereditary diseases of the GCC - celiac disease, congenital diarrhea. Total disruption of membrane digestion and suction. Diagnostics. The purpose of vitamins, primarily fat-soluble, is desirable in easily digestible (water-soluble) forms. Re-conducting 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\u003d1900511643&p\u003d0&ag\u003dih&text\u003d%E8%F5%F2%E8%EE%E7%20%ED%E5%20%F1%F6%E5%EF%B. % E5% ED% ED% FB% E9% 20% F1% 20% EF% EE% EB% EE% EC & RPT \u003d SIMAGE.

"Dauna's disease" is a limitation of representations, distracts and generalizations. There are also such violations of the visual analyzer as astigmatism, squint. Clinic violation. Violations in the analysis of analyzers. The concept of "Down Syndrome". Domestic - Lurie, causing. Teaching children with Down syndrome. Children's birth rate with Down syndrome approximately 1 at 600-800 newborns.

Total in the subject of 30 presentations

 

Perhaps it will be useful to read: