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Синдром Males

1. Синдром Melas

Выполняла Гвиниашвили Арина
Преподаватель: Мазлов Алексей Михайлович

2.

MELAS-синдром — генетическое
митохондриальное заболевание, обусловленное
нарушением тканевого дыхания и энергетического
метаболизма. Проявляется инсультоподобными
эпизодами, эпилепсией, мышечной слабостью и
непереносимостью нагрузок. Диагностика
опирается на МРТ, ЭЭГ, ЭНМГ и подтверждается
мутациями мтДНК. Лечение — метаболическая
поддержка и симптоматическая терапия.

3. Патогенез

Генетический дефект митохондриальной ДНК
нарушает синтез белков дыхательной цепи. Это
ведёт к сбою окислительного фосфорилирования
— основного процесса образования АТФ. В итоге
развивается энергетический дефицит во всех
клетках, особенно в тех, что требуют много
энергии: нервная система, сердечная мышца,
скелетные мышцы.
Последствия:
•в мышцах — накопление молочной кислоты
из-за тканевой гипоксии;
•в сосудах — дефицит оксида азота, что
вызывает вазоконстрикцию и тромбоцитарную
агрегацию;
•проявления — мультисистемные и наиболее
выражены в энергозависимых тканях.

4. Классификация

По выраженности клинических проявлений выделяют 3
формы MELAS-синдрома:
Бессимптомное носительство – наличие генетической мутации и
изменений при биопсии мышц на фоне полного отсутствия
клинических признаков заболевания.
Олигосимптоматическая – обнаруживаются отдельные компоненты
синдрома: мышечная слабость, головные боли и пр.
Манифестная – яркая клиническая картина с острыми эпизодами.

5. Диагностика MELAS-синдрома

1. Анамнез.
2. Физикальный осмотр
3. Инструментальные методы
• МРТ головного мозга
• МР-спектроскопия
• ЭЭГ
• Электронейромиография
4. Лабораторные исследования
Общий анализ крови/мочи
• Биохимия крови
• Гистохимия мышцы
• Молекулярно-генетический анализ (ПЦР)

6.

Актуальность:
MELAS — редкое митохондриальное
заболевание (1:15 000) с ранним
началом, прогрессирующим течением и
типичной мутацией MT-TL1. Проявляется
мышечной слабостью,
непереносимостью нагрузки,
судорогами, мозжечковыми
нарушениями; при биопсии — скопления
митохондрий и «рваные красные
волокна».
Клинический случай:
Мальчик 10 лет с задержкой развития,
врождёнными пороками сердца и
перинатальным поражением ЦНС.
Выявлена мутация MT-TL1, установлен
диагноз MELAS. На фоне госпитализации
развилась кишечная инфекция, после чего
возникли головная боль, нарушения
зрения, лактатацидоз и инсультоподобный
эпизод. КТ: ишемические изменения в
затылочной доле.

7.

Заключение:
Острая инфекция спровоцировала ишемический инсульт, что отражает
прогрессирование MELAS. Важно учитывать высокий риск инсультоподобных эпизодов
при планировании терапии и профилактики у детей с этим синдромом.

8.

Лечение и
профилактика
Направление лечения
Что применяется
Для чего
Коррекция обмена веществ
Коэнзим Q10, никотинамид,
янтарная кислота,
витамины C, E, D, B2;
диета с ограничением
углеводов
Улучшение энергетического
обмена, снижение лактата
Улучшение микроциркуляции
L-аргинин, цитруллин
Расширение сосудов,
повышение уровня оксида
азота
Коррекция нарушений
Препараты для
нормализации КЩС;
инсулин;
глюкокортикостероиды
Стабилизация
метаболических и
гормональных нарушений
Симптоматическая терапия
Антиконвульсанты
(топирамат, ламотриджин,
клоназепам);
кардиопрепараты
(антиаритмики, βблокаторы, ингибиторы
АПФ); гепатопротекторы
Контроль судорог,
поддержка сердечной и
печёночной функции
Поддерживающие процедуры
Гемодиализ
При тяжёлой почечной
недостаточности

9. Подводя итоги

MELAS-синдром — тяжёлое прогрессирующее заболевание, часто
приводящее к летальному исходу. При его манифестной форме
средняя продолжительность жизни обычно не превышает 40 лет с
момента появления первых симптомов.
На сегодняшний день **специфической профилактики** этой
патологии не существует. Поскольку пациенты с MELAS-синдромом
имеют повышенную склонность к инфекциям, важно укреплять
иммунитет: регулярно заниматься физической активностью,
проводить закаливающие процедуры и своевременно проходить
вакцинацию.

10. Importance of studying cell biology

Do you know what helps you make your point crystal clear?
Lists like this one:
They’re simple
You can organize your ideas clearly
You’ll never forget to buy milk!
And the most important thing: the audience won’t miss the
point of your presentation

11. Prokaryotic cells

Definition
Examples
Structure
Mercury is the closest
planet to the Sun and a
very small object
Venus has a beautiful
name and was named
after a Roman goddess
Despite being red,
Mars is actually a cold
place. It’s full of iron

12. Eukaryotic cells

Definition
Examples
Mars is actually a very
cold planet, not hot
Venus has extremely
high temperatures
Structure
Comparison
Jupiter is the biggest
planet of them all
Saturn is a gas giant
and has several rings

13. Cell organelles and functions

Nucleus
ER
Golgi
Mars is actually a very
cold planet, not hot
Venus has extremely
high temperatures
Neptune is the farthest
planet from the Sun
Mitochondria
Chloroplasts
Lysosomes
Mercury is the closest
planet to the Sun
Saturn is a gas giant
with several rings
Jupiter is the biggest
planet of them all

14. Awesome words

15. A picture is worth a thousand words

16. Cell membrane permeability

Determine the permeability of the cell membrane discussing different methods and showing the
results of the experiment
Experiment
Osmosis
Diffusion
Facilitated diffusion
Osmosis
Diffusion
Facilitated
diffusion

17. 98,300,000

Big numbers catch your audience’s attention

18. Mitosis and meiosis comparison

Explore the similarities and differences between mitosis and meiosis, highlighting their key
characteristics and significance
Mitosis
Characteristics
Growth
Development
Reproduction
Organisms
Meiosis

19. 9h 55m 23s

Jupiter's rotation period
333,000
The Sun’s mass compared to Earth’s
386,000 km
Distance between Earth and the Moon

20. Cell division

25%
50%
75%
G1 phase
G2 phase
Replication
Mercury is the closest
planet to the Sun and the
smallest one of them all
Venus has a beautiful
name and is the second
planet from the Sun
Despite being red, Mars
is actually a cold place.
It’s full of iron oxide dust

21. The importance of cells

Explain the applications of biotechnology in various fields, such as genetic engineering and
medical diagnostics
Cells
Cells play a crucial role in
biotechnology, serving as the
foundation for numerous
applications and
advancements in the field
Application 1
Write the
explanation here
Application 2
Write the
explanation here
Application 3
Write the
explanation here

22. Computer mockup

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25. Most important biological centers

Venus
Venus is the second
planet from the Sun
Mercury
Mercury is the closest
planet to the Sun
Mars
Despite being red, Mars
is a very cold planet

26. Phases of mitosis

Venus is the second
planet from the Sun
Despite being red, Mars
is a very cold planet
Prophase
Anaphase
Metaphase
Telophase
Mercury is the closest
planet to the Sun
Jupiter is the biggest
planet of them all

27. Ecological sampling techniques

Research the different ecological sampling techniques below and summarize their applications
in studying biodiversity
Quadrat
Sampling
Transect
Sampling
Pitfall
Traps
Camera
Trapping
You can write here
the definition
You can write here
the definition
You can write here
the definition
You can write here
the definition

28. Cell signaling and communication

Communication
Mercury is very small
Signaling
molecules
Signaling
pathways
Cell-cell
communication
Mars is a red planet
Jupiter is a gas giant
Venus has a nice name

29. Microscope exploration

Plant cells
Animal cells
Bacteria cells
Mercury is the closest
planet to the Sun and the
smallest one in the Solar
System. This planet’s name
has nothing to do with the
liquid metal
Venus has a beautiful name
and is the second planet
from the Sun. It’s terribly
hot, even hotter than
Mercury, and its
atmosphere is poisonous
Jupiter is a gas giant and the
biggest planet in the Solar
System. It’s the fourthbrightest object in the night
sky. It was named after the
Roman god
Earth is the third planet
from the Sun
Despite being red, Mars is a
cold planet, not hot
Neptune is the farthest
planet from the Sun

30. Photosynthesis simulation

Explain the process of photosynthesis taking into consideration different variables to observe
their effects on photosynthesis rates
You can write
your answer here
You can write
your answer here
You can write
your answer here
Step 1
Step 3
Step 5
Step 2
Step 4
You can write
your answer here
You can write
your answer here

31. Enzyme activity

Mercury
Venus
Mercury is a very
small planet
Venus has very
high temperatures
Jupiter
Saturn
Jupiter is a gas
giant and big
Saturn is a gas
giant with rings
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32. Osmosis experiment

Using a potato slice and different concentrations of saltwater solutions, predict and observe the
effects of osmosis on the potato slice
Saltwater
concentration
My own
prediction
My observations
and the effects
Type your answer here…
Type your answer here…
Type your answer here…

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