What is the risk of the disease descending from her son to her grandson?

What are the etiology and pathogenesis of hemophilia A?

Can this disease have lethal and sublethal forms?

Case 5

A male patient, 3 years old, was admitted to a pediatric department.

On examination: signs of growth retardation, flat facial profile, half-open mouth, oblique palpebral fissures and epicanthic folds are evident; transverse skin folds on the palms. Study of the patient's karyotype revealed the following: 46,XY,+t(+14,21).

Questions:

What disease does the patient suffer from?

Describe and characterize the patient's karyotype? By what features does it differ from the normal one?

What are the possible causes and pathogenesis of this disease?

Are other variants of karyotype modification possible in this disease? Which of the variants is the most common?

Hand-outs: cases, lecture, multimedia presentation

7.7.3. THE LIST OF LITERATURE:

The basic

1. Litvitsky P.F., Pirozhkov S.V., Tezikov E.B. Concise lectures and tests on pathophysiology E-tekstbook. – ГЭОТАР-Медиа, 2007

2. Lectures, handouts.

6.1.4. THEME:

«GENERAL PATHOLOGY OF A CELL»

6.2.4. The purposes of the class:

· Formation of knowledge of the main issues of the theme

· Formation of skills of experimental work

· Formation of communicative skills for discussion of the problem

6.3.4. Tasks of study:
• To learn the main issues of the theme
• To develop the skills to use the glossary in three languages for discussion of the theoretical material
• To Learn how to make pathogenetic schemes
• To apply the theoretical knowledge in solving of clinical cases

• To form communicative skills for discussion of the theoretical material
6.4.4. Questions for the theme

1. The notion of cell injury. Causes of cell injury. The factors determining resistance of cells to damage.

2. Types of cell injury, the characteristic. Stages of acute and chronic cell injury. Reversible and irreversible ischemic/hypoxic cell injury.

3. Specific and nonspecific (ionic imbalance, reduction of energy supply, changes of рН, membrane potential, sorption ability) manifestations of cell injury, mechanisms of development.

4. General mechanisms of cell injury: Pathogenesis of cellular membrane damage (activation of lipid peroxidation, phospholipases, osmotic and immune damage). Derangements of the energy supply and utilization, Ionic and water dysbalance.

5. Adaptive mechanisms operating during cell injury.