Download 3. Medico-genetic counseling. Prenatal diagnosis

THE MINISTRY OF HEALTH OF THE REPUBLIC OF UZBEKISTAN
TASHKENT MEDICAL ACADEMY
«CONFIRM»
pro-rector on educational work
Professor ___________ Teshaev O.R.
«____» ___________ 2012
Department: INFECTIOUS DISEASE AND PEDIATRICS
Subject: MEDICAL GENETICS
THE TECHNOLOGY OF TRAINING
on a practical lesson on the topic:
Medico-genetic counseling. Prenatal diagnosis.
Screening program. The tactics of the GP
Tashkent
Compilers:
Khalmatova B.T. - head of the department, doctor of medical Sciences
Agzamxodjaeva N.S.- associate Professor, candidate of medical Sciences.
Fayzieva Z.K. Candidate of medical Sciences senior lecturer
The technology of training approved by:
At the meeting of the Department of Protocol № from «___ »
____________ 2012
Subject: : Gene diseases: Diseases of the amino acid metabolism:
PKU, cystinosis, tyrosinosis, homogentisuria and others.
Disease of carbohydrate metabolism galactosemia, glycogenoses,
fructosemia. Etiology, pathogenesis, clinic, diagnostics, principles of
treatment and prevention. The tactics of the GP.
1. The venue of the sessions
- Department of infectious diseases, Pediatrics, hospital
2. The duration of the study of the topic
The number of hours - 6.0
3.Цель classes: to Acquaint students with etiopathogenesis and
classification of monogenic diseases violation of amino acid and
carbohydrate metabolism. To clarify the mechanisms of mutations of
genes in the gene diseases. Teach the methods of diagnostics of genetic
diseases, define indications, methods of treatment and prevention
4. The pedagogical objectives:
- To consider the features of the flow of genetic diseases.
-Discuss the importance of external factors and gene heredity diseases
-classification of genetic diseases.
- the testimony to the survey.
- to acquaint with modern prevention of genetic diseases
5. The results of educational activity
The student should know:
• Etiopathogenesis and classification of genetic diseases.
• Types of inheritance and criteria, typical for monogenic the disease.
• Etiopathogenesis and clinic of monogenic diseases violation of amino
acid metabolism
• Etiopathogenesis and clinic of monogenic diseases in violation of
carbohydrate metabolism
• The principles of treatment and prevention of genetic diseases
• Indications for prenatal methods of diagnostics of genetic diseases
The student should be able to:
• To correctly collect complaints, anamnesis of the disease, history of life,
information about the closest relatives.
• Draw up the genealogy of the gene diseases
• Objectively examine the patient and relatives.
• Determine the manifestations of monogenic diseases.
• Draw up a plan of examination and treatment.
• Define the prognosis for other members of the family.
4. Motivation
Monogenic diseases occupy a large section of clinical genetics and are
very and topical problem of medical genetics. Given that a distinctive
feature of our region are frequent family marriages and in connection with
this wide spread of genetic diseases. The task of the GP is in the
prevention of this phenomenon, as the prevention of genetic disease.
5.Межпредметные and inside the case connection
The teaching of this topic is based on the knowledge of the students of the
fundamentals of anatomy, histology, normal and pathological physiology,
biology, immunology, Allergology, propedeutics of children's diseases.
6. Methods and techniques of training
The method of discussion; the graphic organizer - case technology
7. Learning tools
Training manuals, training materials, slides, video and audio recordings,
history of the disease
8. Form of training
Individual work, group work, collective
9. Conditions of training
The audience chamber
10. Monitoring and evaluation
Oral control: control issues, the implementation of training tasks in groups,
the implementation of practical skills, the CDs
13. The workshop sessions
13.1. The theoretical part of the
Under the genetic disease is commonly understood hereditary diseases,
caused by the mutation of a single gene (in structure of DNA are different,
changes in the form of losses, doubling, translocation, etc.).
The number of genes in human cells reaches hundreds of thousands. auto
production replication of genes, preceding each cell division, provides the
transfer of the daughter cells the full amount of hereditary information.
However, in some cases with the «mistakes» of auto reproduction or under
the influence of mutagenic factors occur gene mutations. At the molecular
level, they are expressed in the substitution of one nucleotide on the site
(the site) gene. The mutant gene is changeable information and, therefore,
programmable their protein has a different primary structure.
PHENYLKETONURIA (PKU)
Phenyl pyruvic mental retardation was opened in 1934. Felling. This is an
inherited disease of amino acid metabolism caused by mutations in the
gene phenylalanine, liver enzyme, carrying out the reaction of the
hydroxylation phenylalanine, i.e. its transformation into a tyrosine.
Mutations within this large-scale gene of the human genome affect
different areas and in different ways damage the function of the enzyme.
The frequency of the prevalence of the disease varies from 1: 7000 up to 1:
10000 of the population and more.
Disease is common in populations where the distributed kinship marriage.
Heterozygotes are found in populations with a frequency of 1: 50 to 1:
1000.
The disease is transmitted as an autosomal-recessive type.
Phenylalanine is an essential amino acid for human growth and
development and is found in all of protein foods. In the basis of the
pathogenesis of the disease is lack liver enzyme - phenylalanine, which
leads to the metabolism of phenylalanine and increased by more than 10
times the concentration of toxic products of metabolism - of phenylacetic,
and acids, which have a neurotoxic effect. The increase of concentration of
phenylalanine restricts the transport of tyrosine and tryptophan through the
blood-brain barrier. The accumulation of phenylalanine in the brain of a
patient also inhibits the activity of enzymes involved in the synthesis of
that protect the brain from demyelination. The disease usually manifests
itself in the first months after the birth of a delay of mental and motor
development. The clinical manifestations are varied. Often these patients
are under the diagnosis of infantile cerebral palsy, mental retardation.
Early manifestations of the disease are regurgitation, vomiting, diarrhea.
Neurological symptoms appear later in the form of a sleep disturbance,
convulsive syndrome, mental retardation. Develops the muscle of Hypo or hypertension. Motor development detained. Children begin to sit and to
walk with delay, a specific smell of sweat and urine - "rat smell". By the
skin marked decrease or absence of pigmentation, dermatitis, eczema,
photosensitivity. The hair and the irises of the eyes also lose their
pigmentation. Violations on the part of craniocerebral nerves manifest
strabismus, nystagmus, violation of the coordination of movement. In a
later age appears characteristic posture of the patient - "pose a tailor, a
peculiar gait. Patients are widely spreading her legs, bent at the knees and
hip joints, her shoulders and head. When walking, make small steps and
sway
CYSTINOSIS (FANCONI SYNDROME)
Hereditary disease associated with the violation of the exchange of cystine
due to the enzymatic block (biochemical mechanism has not fully been
clarified). In connection with poor solubility of cystine in biological fluids
by excessive accumulation of him in the cells, he easily falls in the
sediment in the form of crystals, causing various functional disorders in
the activity of internal organs, mainly kidneys.
The frequency is 1: 600 000 of the population.
The disease is inherited in an autosomal recessive type.
. The disease manifests itself in the late first or early in the second half of
life. Patients have a reduced appetite, there are constant thirst,
constipation, vomiting after eating and drinking or not associated with
feeding. Reduced child's resistance to the infections. Develops the defeat
of the eye in the form of conjunctivitis, converging strabismus. In the
cornea and conjunctiva are dystrophic changes of the deposits in them of
cystine crystals. Is expressed sensitivity to light. Later in patients with
enlarged liver and spleen, appears frequent urination with impaired renal
function. One of the typical symptoms of the disease is progressive delay
in growth up to severe forms of nanizm. Then join rickets similar changes
of the bone system. However, many children die before the appearance of
deployed rickets similar changes from hyperthermia, coma, collapse.
The portion of the children of changes of the bone system, on the contrary,
is the Central feature of the disease. Children lag behind in growth. They
have observed bending of tubular bones, nape hillocks, deformation of the
chest, spine, muscle hypotonia, “the rosary” at the edges “ricket bracelets”
and etc. Clinically and radiologically these phenomena are similar
manifestations of rickets, associated with a deficiency of vitamin D.
АЛКАПТОНУРИЯ
The disease has been known for more than 100 years. With the urine of
patients allocated acid, absent in norm. In the liver and kidneys of patients
there is no oxidase enzyme homogentisic acid, which leads to its
accumulation and increased allocation in the urine.
The incidence of the disease - 1:1000000 population.
The disease is inherited in an autosomal recessive way.
Pathogenetic mechanism of the disease are not fully understood.
The disease is clinically manifested 3 symptoms: the darkening of the
urine, pigmentation of cartilage and connective tissue, arthropathy.
Urine, which has at the time of an emiction normal color, for 12 to 24
hours in the air it gets dark. In connection with this disease is detected very
late, in spite of the fact that there exists from birth. The infant colored
urine is found in the diaper. It is more often from the dark pink to red
colour. As a child, the symptom is the only manifestation of the disease.
Gray-blue pigmentation (ochronosis) appears after 20-30 years of age.
The disease with a violation of the carbohydrate metabolism
Among them there is a disease caused by mutations in the genes encoding
enzymes that are involved in the decomposition of mono - and
disaccharides (galactosemia, fructosemia, etc.). these carbohydrates are the
body with food.
Glycogenoses is a group of diseases caused by the lack or inadequacy of
one of the enzymes catalyzing the destruction of the deposited glycogen.
Currently well-studied 6 types of glycogenosis (Гирке, Pump, Measles,
Andersen, Mac-Ардля, Герса).
GALACTOSEMIA
Galactosemia belongs to a group of anomalies in the metabolism of
carbohydrates, which are characterized by lesions of the Central nervous
system, muscular system, violations of the liver, abnormality of red blood
cells, gipoglikemicakie condition.
A typical galactosaemia is inherited in an autosomal recessively.
The incidence of the disease is approximately 1: 30 000 newborns, but
according to different authors, it ranges from 1:8000 to 1: 187000 of the
population.
In the basis of the primary biochemical defect in galactosaemia is
deficiency of the enzyme galactose-1-фосфатуридилтрансферазы (HA-1FT), with the result that in the tissues of the body accumulates excess
galactose-1-phosphate and other products of incomplete decomposition of
lactose, causing clinical manifestations of galactosaemia.
Besides the classical type galactosaemia there are 2 options: a form of
Duarte, with 50% of the activity of the enzyme and the Negro type, in
which the activity of the enzyme reduced only in some cells (red blood
cells, fibroblasts).
The CLINIC can be of varying degrees of severity. The most mild cases
are found in families where there are patients galactosemia. Such children
early to refuse from the chest and do not tolerate milk.
In the most severe clinical manifestations are revealed in the first days
after birth. The mass of the body of the children at birth, as a rule, is large
(more than 4 kg).
In patients after breastfeeding occurs abundant and persistent vomiting,
diarrhea, weight loss, develop jaundice, is growing hepatomegaly, there
are bleeding and haemorrhage in the skin. Frequent hypoglycemia,
convulsions, in the future appears cataract, signs of cirrhosis of the liver
and the lag in the neuro-mental and physical development.
The DIAGNOSIS. The presence of a large number of phenocopies and
complexity of biochemical methods of diagnostics galactosaemia explain
the fact that the disease is not always detected in a timely manner. Often
children with galactosemia come to the clinic with a diagnosis of sepsis,
biliary cirrhosis of the liver, acute disorders of the digestive system, the
prolonged jaundice of newborn etc. A number of diseases of the newborn
has the similarity of the clinical manifestations with galactosemia;
hemolytic disease of the newborn, congenital hepatitis, biliary atresia,
cytomegalic inclusion disease, congenital toxoplasmosis, hereditary
hyperbilirubinemia , etc. The need for differential diagnosis may occur
with prolonged jaundice premature and newborn. Establishing an accurate
diagnosis galactosaemia requires complex diagnostic methods. Detection
of galactose in the urine of a newborn child serves as a basis for its
comprehensive survey of the galactosemia. The most reliable diagnostic
methods are the determination of the concentration of galactose in the
blood with the help of chromatography on paper, the direct determination
of enzyme activity galactose-1 - phosphate - (HA-1-FT) in erythrocytes
and definition of galactose in the urine. In addition, the diagnosis can help
correctly assembled family history.
TREATMENT. From the first days of life the child should be transferred
to the non milk diet. As a substitute for milk, you can use the mixtures,
prepared on the almond and soy milk.
GLYCOGENOSES
Under this common name unites a group of diseases, for which is peculiar
to the accumulation of glycogen in the organs and tissues, associated with
the violation of the activity of one of the enzymes involved in the
metabolism of glycogen.
The disease is inherited in an autosomal recessive way.
The frequency of glycogenosis of all types is 1: 40000 population.
The most well described, 6 types of glycogenosis, although there is much
more.
The CLINIC. Common clinical symptoms are: the onset of disease in
childhood, gipoglikemii symptoms (vomiting, convulsions, loss of
consciousness, coma). Glycogen is the most intensively accumulated in
those bodies in which he is synthesized, i.e. in the liver, kidneys and
muscles. Depending on which organ is most involved in the pathological
process, there are 3 basic forms of the disease:
1.Печеночная
2.Мышечная
3.Генерализованная
Hepatic form
Signs of the disease appear usually in the first year of life, although the
development of the child in this period is proceeding normally or
somewhat slows down. Starting from 8-9 months of life 1 time in 2
months, or are more frequent bouts of hypoglycemia (loss of
consciousness, and clinical convulsions of the limbs). Attacks begin before
a meal or early in the morning, their occurrence can prevent the intake of
sweet water.
The appearance of the patients: small size, big belly, disproportionately
thin limbs, « doll face ». The liver is enlarged. The most difficult disease
proceeds at the age of 4-5 years. Disease harden the course of main
pathological process.
With age, the condition of patients can be improved, which can be
explained by development of compensatory mechanisms for sharing. The
intellect as a rule is not violated.
Muscular form
The main symptoms of this form of the disease occurs with 7 - 10 years.
Patients become more sedentary, quickly tire during exercise. In the future,
muscle weakness progresses. There is pain in the intensively working
muscles after lengthy physical exercises, there is tachycardia, shortness of
breath. These symptoms mostly occur to 25-35 years. The appearance of
the patients are usually does not change. Borders of heart are typically
expanding. By the liver and kidneys expressed changes do not happen.
Prognosis of the disease mostly favorable, although known deaths in the
age of 25-30 years.
Generalized form
This form of glycogenosis is characterized by the fact that in almost all
organs and tissues of the patient are accumulated a significant amount of
glycogen.
The clinical picture of this form does not look like the picture of the liver
and muscle forms. To this form are biochemical types of glycogenosis III
and IV types (disease Measles and Andersen).
Biochemical types of glycogenosis:
1.Болезнь Gierke (type I) - deficiency of the enzyme glucose-6phosphatase.
2.Болезнь Pump (type II) - deficiency of the enzyme sour glucosidase.
3.Болезнь Measles (W type) - enzyme deficit of 1.6-glucosidase.
4.Болезнь Andersen (IV type) - deficit branching enzyme.
5.Болезнь Mac-Ардля (Y-type) - deficiency of the enzyme muscle
phosphorylase.
6.Болезнь Hers (YI type) - deficiency of the enzyme phosphorylase the
liver.
The DISEASE ГИРКЕ (type I)
The clinical picture of the disease caused mainly by the lack of specific
activity of the enzyme glucose-6-phosphatase in the liver and intestinal
mucosa, and in some cases also in the kidneys. The clinical picture of the
disease accounts for most disorders of the metabolism of glycogen in the
liver. The clinical picture of the disease is very similar to the liver form of
the disease, which has been described above. In the neonatal period
cardinal symptoms are hypoglycemic seizures and hepatomegaly. Delay of
growth begins to be observed with the 1-th year of a life. Is characterized
by the appearance of the patients: the big head, «doll face», a short neck, a
big belly. Characteristic of this type of glycogenosis is the fact that the
children in the age of 5-7 years there are hemorrhagic rash, as well as
frequent nosebleeds. In 10% of cases there are xanthomatosis.
The disease is inherited in an autosomal recessive type.
The DISEASE PUMP (type II)
The disease is caused by a lack of the enzyme, acid alpha - glukosidase or
gamma - amylase in the liver and muscles, which leads to destructive
changes of tissues and, in the first place, intensively working muscles,
such as the heart muscles.
The disease usually manifests with the first year of life in the form of
symptom-complex heart failure. Shortly after the birth of developing
anxiety of the child, there is increasing cyanosis, respiratory. The survey
revealed a « globular » heart, hepatomegaly, moderate hypertrophy of
muscle, macroglossia. Unlike glycogenosis type I does not have
hypoglycaemia, metabolic acidosis. Sick children are killed on the 1 year
of life.
In the mild form of the disease, Pump there is no concentration of alphaglucosidase only in the muscles. In these cases, the disease usually
manifests itself in a later age and the clinical picture is similar to
myopathy. The prognosis for this form is different, is possible a lethal
outcome.
TREATMENT glycogenosis insufficiently developed. The use of
adrenaline and hydrocortisone, capable in the rate of increase of sugar in
the blood due to the disintegration of glycogen was ineffective. Some
authors it is recommended to use glukagona and small doses of
тиреоидина. Of great importance paid to the diet, which lies in the
increase in the diet of patients carbohydrate diet and the rise in food intake.
FRUCTOSEMIA
The cause of the disease is a deficiency of the enzyme fructose - I - monoфосфатальдолазы in the liver, the kidneys, the mucous, and also decrease
activity of fructose-1,6-дифосфатальдолазы. Changing one enzyme
affects the other. Deficit of these enzymes leads to the accumulation in the
blood and tissues of fructose and fructose-I-phosphate, having toxic effects
and the symptoms of the disease. The most severe pathomorphological
changes occur in the liver cirrhosis, steatosis, necrosis of the cells.
The incidence of the disease - 1:130000 population.
The disease is inherited in an autosomal recessive type.
The CLINIC. The disease manifests itself in a period when the infants
given fruit juices, sugar or in early transition of children in mixed or
artificial feeding. The children are persistent anorexia, vomiting,
hypotrophy, hepatomegaly and jaundice, which are marked with a severe
form of the disease. In benign form in early childhood are observed only
gastro-intestinal disturbances, and difficulty feeding. Children turning
away from products containing glucose. With the age of the patients begin
to be easier to carry small quantities of products containing fructose. With
the increasing number of fructose in the diet of the patients ' conditions are
deteriorating because of hypoglycemia and гиперфруктоземии.
USING THE METHOD OF «DISCUSSION»
The method of discussion is recommended as a multifunctional
pedagogical method studies, covering a large content and complex
theoretical material.
In the discussion it is necessary to observe a number of rules:
1) the discussion is aimed at the solution of the problem, but not the
conflict;
2) do not speak for a long time, observe the rules and regulations;
3) go up only on the topic;
4) correctly understand the position of the opponent, do not misrepresent
it.
5) know how to listen carefully opponent to the end;
6) don't let output полемическому dream. The enemy in the discussion is
not opposed in life. You need to have the readiness to recognize their
error.
7) if you do not agree with an opponent, not only criticize his position, but
also offer another solution;
Methodical instructions to the discussion:
1. Students are warned in advance about the discussions. Is called a
common theme.
2. Shall be appointed by several speakers, who are in a specific area of
themes, not more than 15 min. (3-4 fragment).
3. Selected opponents, which are prepared in parallel on the same topics
for the additions, critical evaluation.
4. All students prepare questions, including казусные, rapporteurs and
opponents.
5. The discussion is held on the above-stated rules.
Topics for discussion:
1. The role of external factors and heredity in etiopathogenesisе of
hereditary diseases.
2. The relevance of genetic diseases in the structure of infant morbidity
and mortality.
3. Prediction of gene-disease with a violation of the exchange of amino
acids and carbohydrates in the offspring and сибсов patients.
4. The defeat of organs and systems by genetic disease with a violation of
the exchange of amino acids and carbohydrates .
5. Indications for prenatal diagnosis in genetic diseases in children
The analytical part (on this topic was established case)
13.3. The practical part of the
14. Forms of the control of knowledge, skills and abilities
- oral
- the decision of situational tasks
- demonstration of practical skills
- Independent work of a student
15. Criteria for the evaluation of the current control
№
Performance (%)
evaluation
The level of student's
and scores
knowledge
1
96-100
Depending on the situation,
can make the right decision
and
concludes.
In preparation for practical
use of additional literature (as
in their native language, and
English)
Independently examines the
essence of the problems of
gene disease with a violation
of amino acid metabolism.
Correctly solves situational
problems for genetic diseases,
and
(PKU,
tyrosinosis,
Excellent
cystinosis,
galactosemia,
«5»
glycogenoses),
Shows high activity, creative
approach in the conduct of
interactive
games
Correctly solves situational
tasks with full justification
answer
During the discussion of the
CDs
actively
asking
questions, making additions
The practical skill performs
confident, understands the
essence
2
91-95
In preparation for practical
use of additional literature (as
3
86-90
in their native language, and
English)
Independently examines the
essence of the problem
carditis.
Independently can examine
the patient and correctly
diagnose (carditis), appoints
the plan of the treatment and
prevention of carditis. Shows
high
activity,
creative
approach in the conduct of
interactive
games
Correctly solves situational
tasks with full justification of
the answer. During the
discussion of the CDs actively
asking questions, making
additions. The practical skill
performs
confident,
understands the essence
Independently examines the
essence of the problems of
gene disease with a violation
of amino acid metabolism.
Correctly solves situational
problems for genetic diseases,
and
(PKU,
tyrosinosis,
cystinosis,
galactosemia,
glycogenoses), Shows high
activity, creative approach in
the conduct of interactive
games.
Correctly solves situational
tasks, justifies the treatment,
the plan for prevention
activities. Knows AFIS SS
system, says confidently. Has
the exact representations on
4
76-80
Good
«4»
the etiology, pathogenesis,
clinic
can
carry
out
differential
diagnosis,
prescribe treatment, may
make prevention carditis.
The practical skill performs
confident, understands the
essence
Right collects medical history,
examines a patient, puts the
preliminary diagnosis. Can
interpret the data of laboratory
research. Actively participates
in the discussion of the CDs.
Shows high activity in the
conduct of interactive games.
Correctly solves situational
tasks, but may not assign a
specific treatment, confuses
dosages
of
drugs.
Independently examines the
essence of the problems of
gene disease with a violation
of amino acid metabolism.
Correctly solves situational
problems for genetic diseases,
and
(PKU,
tyrosinosis,
cystinosis,
galactosemia,
glycogenoses),, Has the exact
representations
on
the
etiology, pathogenesis, clinic
can carry out differential
diagnosis,
prescribe
the
treatment, but may not
conduct prevention of the
disease.
The practical skill performs
the
steps
of
Right collects medical history,
6
71-75
7
66-70
examines a patient, puts the
preliminary diagnosis. Can
interpret the data laboratory of
additional study. Actively
participates in the discussion
of the CDs.
Correctly solves situational
tasks, knows how to put the
clinical diagnosis on the
classification, but may not
assign the plan of treatment
and prevention activities.
Knows AFIS SS system, says
confidently.
Independently examines the
essence of the problems of
gene disease with a violation
of amino acid metabolism.
Correctly solves situational
problems for genetic diseases,
and
(PKU,
tyrosinosis,
cystinosis,
galactosemia,
glycogenoses),
Has the exact representations
on the etiology, pathogenesis,
clinic and conduct differential
diagnosis, but may not assign
the
treatment
The practical skill performs,
but confuses the steps.
Right collects medical history,
examines a patient, puts the
preliminary diagnosis. Can
interpret the data of laboratory
research. Actively participates
in the discussion of the CDs.
Correctly solves situational
problems for genetic diseases,
and
(PKU,
tyrosinosis,
8
61-65
9
55-60
cystinosis,
galactosemia,
glycogenoses),
Knows AFIS SS system, says
Satisfactorily confidently
«3»
Has the exact representations
on the etiology, pathogenesis,
clinic, but may not conduct
differential diagnosis and
prescribe
treatment.
Right collects medical history,
examines a patient with
carditis, but cannot estimate
the severity of the condition.
May partially interpret the
data of laboratory research.
Actively participates in the
discussion of the CDs.
Making
mistakes
when
solving situational problems
for genetic diseases, and
(PKU, tyrosinosis, cystinosis,
galactosemia, glycogenoses),
(can't expose the diagnosis on
the
classification)
Knows clinic carditis, tells not
confident
Has the exact representations
on the etiology carditis, but
cannot associate the clinic
with
pathogenesis
History is not focused
inspection is not on the chart.
Can't interpret the data
laboratory - studies. Passive
during the discussion of the
CDs
Has a General idea of the
problems of gene disease with
a violation of amino acid
10
11
№
1
2
3
4
54 -30
20-30
metabolism.
tells
not
confident
Confuses the AFIS SS system
Alone cannot interrogate and
examine a sick child. Can't
interpret the data of laboratory
research. Does not participate
in the discussion of the CDs
Unsatisfactory Has no exact representation of
«2»
the problems of gene disease
with a violation of amino acid
metabolism.
't
know
Anatomic
physiological features of the
cardiovascular system
Unsatisfact The presence of a student in
ory
class, in proper form, a has a
«2»
notebook, a phonendoscope
16. Technological map classes
Stages
Forms of classes
Introductory word of the
teacher (announcement of the
topic of practical classes,
aims, learning outcomes,
peculiarities of conducting the
studies,
indicators
and
assessment criteria)
The discussion of topics that The
survey,
are classes, assessment of the explanation
source of knowledge of
students with the use of new
pedagogical technologies
Summing up of the discussion
Curatio patients, on the topic
of practical skills
The
duration, in
minutes
5
30
5
100
5
6
7
Hearing and discussion of
independent work of students
Clarification of the degree of
achievement of the exercise,
on the basis of the developed
theoretical knowledge and
according to the results of the
development of practical
skills
Conclusion teaching this
lesson. The estimation of
knowledge of students on a
100 point system and its
announcement. Giving the job
to the next class
30
Oral
questioning,
situational
tasks,
discussion
45
Information.
Questions for selftraining
5
Test questions:
1. What diseases are related to monogenic diseases?
2. List the diseases proceeding with a violation of amino acid metabolism?
3. List the diseases proceeding with a violation of the carbohydrate
metabolism?
4. How are inherited genetic disease?
5. What are the features of the course are typical for monogenic diseases?
6. What are the systems and organs of the more frequently affected?
7. What methods are used for diagnostics of genetic diseases?
8. How can we help if you suspect the PKU?
9. Who do you have to send in the screening center perinatal diagnostics?
10. What measures of prevention recommend?
Recommended literature:
1. N.A. Bochkov, A.F. Zakharov, V. I.. Ivanov, «Medical genetics», M 2004.
2. K.N.. Нишонбоев, FA - Hamrayev, O.E. - Eshonkulov «Тиббиет
генетикаси», Tashkent, 2000.
3. N.A. Bochkov, «Clinical genetics», M - 1997.
4. S.I. Kozlov et al., «Hereditary syndromes and medico-genetic Konсультирование», M - 1987.
5. RM. Kohn, KS. His mouth. «Early diagnosis of metabolic diseases», M
19971.
6. V.N. Gorbunova, V.S. Baranov, «Introduction to molecular diagnostics
and gene therapy of hereditary diseases», Saint-Petersburg, 1997.
7. Sharapova M.KH., Nizomiddinov is И.Н. and others. Моноген VA
chromosomes diseases . TMA 2007.