What is Tuberous Sclerosis Complex?

 

✅ What is Tuberous Sclerosis Complex?

TSC is a rare genetic disorder that causes non-cancerous tumors to grow in different parts of the body, especially the:

• Brain

• Skin

• Kidneys

• Heart

• Eyes

• Lungs

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🧬 Cause:

• Caused by mutations in the TSC1 or TSC2 genes.

• These genes regulate cell growth. When they are mutated, cells grow uncontrollably, forming tumors.

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🧒🏻 TSC in Children – Key Symptoms:

• Seizures (common and often early sign)

• Developmental delay or intellectual disability

• Autism spectrum disorder

• Skin findings:

  • Hypomelanotic macules (white patches)

  • Facial angiofibromas

  • Shagreen patches

• Behavioral issues

• Kidney cysts or tumors (angiomyolipomas)

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🩺 Diagnosis:

• Clinical exam + imaging (MRI, CT)

• Genetic testing (TSC1/TSC2 mutations)

• EEG for seizure monitoring

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💊 Treatment:

• No cure, but symptoms can be managed:

  • Anti-seizure medications

  • Behavioral therapy / educational support

  • mTOR inhibitors (like everolimus) to shrink tumors

  • Regular screening for organs

1. Tuberous Sclerosis Complex (most common in paediatrics)-TSC

 

1. Tuberous Sclerosis Complex (most common in paediatrics)

✅ What is it?

Tuberous Sclerosis Complex (TSC) is a genetic disorder that causes non-cancerous tumors to grow in different parts of the body, especially:

• Brain

• Skin

• Kidneys

• Heart

• 🧒🏻 TSC in Children – Key Symptoms:

  • Seizures (common and often early sign)

  • Developmental delay or intellectual disability

  • Autism spectrum disorder

  • Skin findings:

    • Hypomelanotic macules (white patches)

    • Facial angiofibromas

    • Shagreen patches

  • Behavioral issues

  • Kidney cysts or tumors (angiomyolipomas)

  ---

  🩺 Diagnosis:

  • Clinical exam + imaging (MRI, CT)

  • Genetic testing (TSC1/TSC2 mutations)

  • EEG for seizure monitoring

  ---

  💊 Treatment:

  • No cure, but symptoms can be managed:

    • Anti-seizure medications

    • Behavioral therapy / educational support

    • mTOR inhibitors (like everolimus) to shrink tumors

    • Regular screening for organs

Daily Energy Requirement (DER) function

  Daily Energy Requirement (DER) function

What is the function of the alveoli in the lungs? A. Filter blood B. Produce mucus C. Store oxygen D. Exchange gases

 What is the function of the alveoli in the lungs?

A. Filter blood
B. Produce mucus
C. Store oxygen
D. Exchange gases

DNA (deoxyribonucleic acid) stores the genetic instructions

 

• DNA (deoxyribonucleic acid) stores the genetic instructions used in growth, development, and reproduction.

• RNA helps carry out the instructions encoded in DNA.

• ATP stores energy, not genetic information.

• Enzymes are proteins that speed up chemical reactions, not store genes.

cerebellum

 

The cerebellum is located at the back of the brain and is responsible for:

• Balance

• Coordination

• Fine motor control

Other parts:

• Cerebrum = thought, memory, voluntary movement

• Medulla oblongata = breathing, heart rate

• Hypothalamus = hormones, body temp, hunger

metabolic waste from the blood?

 

Which organ system is primarily responsible for removing metabolic waste from the blood?

A. Respiratory system
B. Digestive system
C. Endocrine system
D. Urinary system

Mitochondrion

 

Mitochondrion

Explanation:

• The mitochondrion is called the "powerhouse of the cell" because it produces ATP (energy) through cellular respiration.

• The Golgi apparatus (your answer) modifies, packages, and ships proteins — important, but not for energy.

cellular respiration is:

 

• The overall equation for cellular respiration is:

$$\text{Glucose (C₆H₁₂O₆)} + \text{O₂} \rightarrow \text{CO₂} + \text{H₂O} + \text{ATP (energy)}$$

• So the products of cellular respiration are:

  • Carbon dioxide (CO₂)

  • Water (H₂O)

  • ATP (usable energy)

• Glucose is actually a reactant, not a product.

hormones

 

The endocrine system produces and regulates hormones that control:

• Growth

• Metabolism

• Mood

• Reproduction

Major endocrine glands include: pituitary, thyroid, adrenal glands, and pancreas.

Pancreas

 

Pancreas

Explanation:

• The pancreas produces the hormone insulin, which:

  • Helps lower blood glucose levels by allowing sugar to enter cells.

• It also produces glucagon (which raises blood sugar) and digestive enzymes.

• The liver stores glucose as glycogen but does not produce insulin.

skeletal

 

The skeletal system:

• Produces blood cells (in red bone marrow)

• Stores calcium and minerals

• Protects organs like the brain, heart, and lungs

Generating body heat is a function of the muscular system, especially skeletal muscle contractions (like shivering).

Metaphase

 

Metaphase

Explanation:

• During metaphase, chromosomes line up in the middle of the cell (along the equator).

• In prophase, chromosomes condense, and the nuclear envelope breaks down.

• Anaphase is when the chromosomes are pulled apart to opposite poles.

• Telophase is when the nuclear envelope reforms around the two sets of chromosomes.

Nephrons

 

Filter blood and form urine

Explanation:

• Nephrons are the functional units of the kidneys.

• They filter waste, excess salts, and water from the blood to form urine.

• Each kidney contains about 1 million nephrons!

Arteries

 

Arteries carry blood away from the heart — typically oxygenated, except for the pulmonary artery, which carries deoxygenated blood to the lungs.

Veins carry blood back to the heart.

Capillaries are tiny vessels where gas and nutrient exchange occurs.

Venules are small veins that collect blood from capillaries.

small intestine

 

• The small intestine is where most digestion and nutrient absorption occurs.

• Tiny finger-like projections called villi increase surface area to absorb:

  • Carbohydrates

  • Proteins

  • Fats

  • Vitamins and minerals

• The large intestine mainly absorbs water and forms feces.

nucleus stores and protects DNA.

 

The nucleus is the control center of the cell and contains DNA, the genetic material.

Other organelles like ribosomes and mitochondria have specific roles, but only the nucleus stores and protects DNA.

Catalyst

 

Catalyst

Explanation:

• A catalyst speeds up a chemical reaction without being used up or changed in the process.

• In biology, enzymes are natural catalysts.

• A substrate is the molecule an enzyme acts on.

• Reactants are the starting materials in a reaction.

• A solvent dissolves other substances (like water dissolving salt).

Luteinizing hormone (LH)

 

Luteinizing hormone (LH)

Explanation:

• A surge in LH (Luteinizing hormone) triggers ovulation, the release of an egg from the ovary.

• Estrogen builds up the uterine lining and helps regulate the cycle but does not cause ovulation directly.

• FSH stimulates follicle growth, and progesterone maintains the uterine lining after ovulation.

Lipids

 

Lipids (fats and oils) are used by the body for long-term energy storage, insulation, and protection.

Carbohydrates provide quick energy.

Proteins are mainly for structure and enzymes.

Nucleic acids store genetic information (DNA/RNA).

Potassium

 

Potassium

Explanation:

• Potassium (K) is an alkali metal — shiny, soft, highly reactive with water.

• Chlorine, oxygen, and sulfur are nonmetals.

The Earth's atmosphere is made up of:

 

Correct Answer: C. Nitrogen

Explanation:

• The Earth's atmosphere is made up of:

  • ~78% Nitrogen (N₂)

  • ~21% Oxygen (O₂)

  • Less than 1% Carbon dioxide, Argon, etc.

• So while oxygen is essential for life, nitrogen is the most abundant gas in the atmosphere.

.Medulla oblongata

 

Explanation:

• The medulla oblongata is part of the brainstem and controls involuntary functions like:

  • Breathing

  • Heart rate

  • Blood pressure

• The cerebellum (your answer) controls balance and coordination, not vital functions.

Mitosis

 

Used for tissue repair and growth

Explanation:

• Mitosis is the process by which somatic (body) cells divide to create two identical daughter cells.

  • It's used for growth, repair, and replacement of cells.

• Answer B describes meiosis, which produces four genetically different sex cells (sperm or egg).

Hydrochloric acid (HCl)

 

Kill bacteria and activate enzymes

Explanation:

• Hydrochloric acid (HCl) in the stomach:

  • Creates a low pH (acidic environment)

  • Kills pathogens

  • Activates pepsinogen into pepsin, which digests proteins

lymphatic system

 

The lymphatic system collects excess fluid (called lymph) from tissues and returns it to the bloodstream, helping maintain fluid balance.

It also plays a key role in the immune system.

Red bone marrow is responsible for hematopoiesis

 

Red bone marrow is responsible for hematopoiesis, which is the production of:

• Red blood cells

• White blood cells

• Platelets

It’s found in flat bones like the pelvis, sternum, and parts of long bones.

Thymine

 

✔️ Answer: C. Adenine – Thymine

Explanation:
In DNA, the base pairs always match up like this:

• Adenine (A) pairs with Thymine (T)

• Cytosine (C) pairs with Guanine (G

Insulin

 

Insulin is a hormone produced by the pancreas that helps move glucose from the blood into cells, where it can be used for energy.

This lowers blood glucose levels.

The opposite hormone is glucagon, which raises blood sugar.

Iodine

 

• Iodine is a critical element used by the thyroid gland to produce thyroxine (T4) and triiodothyronine (T3) — hormones that regulate metabolism.

• A lack of iodine can lead to goiter and hypothyroidism.

alveoli Allow gas exchange

 

Allow gas exchange

Explanation:

• The alveoli are tiny air sacs in the lungs where oxygen and carbon dioxide are exchanged between the lungs and bloodstream.

• Oxygen goes into the blood, and carbon dioxide comes out.

Cardiac straited

 

 Cardiac

Explanation:

• Cardiac muscle is found only in the heart.

• It is involuntary (you don’t control it) and striated (has stripes under a microscope).

• Skeletal muscle is voluntary and striated.

• Smooth muscle is involuntary but not striated.

blood pH by controlling the amount of carbon dioxide (CO₂)

 

The respiratory system helps regulate blood pH by controlling the amount of carbon dioxide (CO₂) in the blood.

When CO₂ levels rise, the blood becomes more acidic. Breathing faster removes CO₂, raising pH (less acidic).