Lecture 1- Biochemistry of Diseases 2024-2025 PDF

Biochemistry of Diseases 4th stage Biochemistry Laboratory, Faculty of Science, Sohag University 2024-2025 Prepared by Dr. Amany M. Hamed  Types of Diseases Prepared by Dr. Amany M. Hamed Biochemistry Laborat...

Biochemistry of Diseases 4th stage Biochemistry Laboratory, Faculty of Science, Sohag University 2024-2025 Prepared by Dr. Amany M. Hamed  Types of Diseases Prepared by Dr. Amany M. Hamed Biochemistry Laboratory, Faculty of Science, Sohag University 2024-2025  Dr. Amany Hamed Disease ❑ Does not allow the body to function normally. ❑ Can affect individual organs or an entire body system. ❑ Divided into two groups –Infectious and Non-infectious.  Dr. Amany Hamed Infectious Disease ❑ An infectious disease is a disease that is caused by the presence of a living thing within the body. ❑ When you have an infectious disease, pathogens have gotten inside your body & caused harm.  Dr. Amany Hamed 4 Kinds of Pathogens AnimatedVirus ❑ Bacteria ❑ Viruses ❑ Fungi ❑ Protist  Dr. Amany Hamed Pathogens ❑ Pathogens need food & a place to live & reproduce. ❑ Sometimes a human body is a suitable place for a pathogen to meet its needs. ❑ Pathogens can spread through contact with: ✓ Another person Dr. Amany Hamed Pathogens  Dr. Amany Hamed Pathogens ✓ Contaminated objects  Dr. Amany Hamed Pathogens ✓ Animal bite  Dr. Amany Hamed Pathogens ✓ Environment 52831195 soil%255BHR%255D Clean,%2520safe%2520drinking%2520water%2520is%2520produced%2520from%2520the%2520facility_jpg When does a pathogen enter the body? ❑ It works by damaging individual cells within the organs ❑ In some cases it attacks an entire body system Dr. Amany Hamed  Dr. Amany Hamed Immune System The Body's Defense ❑ distinguishing (telling the difference) between the different kinds of pathogens ❑ Reacting to each kind according to its type ❑ The body has 3 lines of defense  Dr. Amany Hamed Immune System The Body's Defense ❑ These are three lines of defense, the first being outer barriers like skin, the second being non- specific immune cells like macrophages and dendritic cells, and the third line of defense being the specific immune system made of lymphocytes like B- and T-cells.  First Line of Defense Against Dr. Amany Hamed Pathogens ❑ Skin-Physical & chemical barrier ❑ Mucous & Cilia-trap - remove most pathogens ❑ Chemicals in saliva stomach acid kill pathogens  Dr. Amany Hamed Second Line of Defense ❑ Triggers inflammatory response and leukocyte response. ❑ White blood cells then fight the pathogens. These WBCs are called phagocytes. ❑ Phagocytes destroy pathogens. ❑ During the inflammatory process, the affected area becomes red, swollen, & warm. ❑ Fever may also occur Immune Response, 3rd Line of Defense ❑ The cells of the immune system can distinguish between different kinds of pathogens. ❑ The immune system cells react to each kind of pathogen with a defense targeted specifically at the pathogen. ❑ White blood cells that target specific pathogens are called lymphocytes (T and B cells). Dr. Amany Hamed Dr. Amany Hamed Noninfectious Diseases ❑ Are diseases that are not caused by pathogens in the body. ❑ Cardiovascular disease, diabetes, & cancer are examples of noninfectious diseases.  Complete Blood Count (CBC) Prepared by Dr. Amany M. Hamed Biochemistry Laboratory, Faculty of Science, Sohag University 2024-2025 Dr. Amany Hamed Complete Blood Count (CBC) It is a test panel requested by a doctor or other medical professional that gives information about the cells in a patient's blood. A major portion of the complete blood count is the measure of the concentration of white blood cells, red blood cells, and platelets in the blood.  Dr. Amany Hamed When CBC is ordered? CBC may be ordered when a person has any number of signs and symptoms that may be related to disorders that affect blood cells. When an individual has fatigue or weakness Infection Inflammation bruising, or bleeding The doctor may order a CBC to help diagnose the cause and/or determine its severity.  Dr. Amany Hamed Parameters of CBC The complete blood count, or CBC, lists several many important values. Typically, it includes the following: White blood cell count (WBC or leukocyte count) WBC differential count Red blood cell count (RBC or erythrocyte count) Hematocrit (Hct) Hemoglobin (Hbg) Mean corpuscular volume (MCV) Mean corpuscular hemoglobin (MCH) Mean corpuscular hemoglobin concentration (MCHC) Red cell distribution width (RDW) Platelet count Mean Platelet Volume (MPV)  Dr. Amany Hamed Blood Composition Plasma: carbohydrates, proteins, lipids, vitamins, minerals, hormones WBCs: white blood cells or Leukocytes RBCs: Erythrocytes or red blood cells or red blood corpuscles. Platelets: Thrombocytes  Dr. Amany Hamed CBC Complete blood count is a group of blood tests that measure the number and size of the different cells in your blood. Manual: Hemocytometer CBC Shape Count Automatic: blood film (blood smear) Cell counter  Dr. Amany Hamed CBC Blood cells have a relatively short lifespan. ✓ Erythrocytes (RBCs): 120 days ✓ Thrombocytes (PLT): 10-12 days ✓ Leukocytes (WBCs): only a few days in the bloodstream, migrate to the connective tissue.  Dr. Amany Hamed Hematopoiesis Is the formation of blood cellular components. All cellular blood components are derived from hematopoietic stem cells in bone marrow (Myelo or Myeloid). The production of hematopoietic cells is under the tight control of a group of hematopoietic cytokines.  Dr. Amany Hamed Hematopoiesis In fetus: Extramedullary hematopoiesis (3 stages) Mesoblastic phase (Meso derm): (16‐19 days): Clusters of mesenchymal cells in the yolk sac ends by 12 weeks Hepatic phase (Second trimester) Liver, spleen and lymph node Myeloid phase (Last month of gestation + after birth): Bone marrow Dr. Amany Hamed Hematopoiesis  Dr. Amany Hamed Hematopoiesis Microscopic examination of bone marrow consisting of red and yellow bone marrow. Yellow Red marrow marrow  Dr. Amany Hamed Red bone marrow Microscopic examination of bone marrow consisting of red and yellow bone marrow.  Dr. Amany Hamed Bone marrow After completing the blood formation process in the bone marrow, the blood components are transported to the sinus and then enter the peripheral blood (artery). Dr. Amany Hamed RBCs Erythropoiesis Dr. Amany Hamed RBCs Erythropoiesis  Dr. Amany Hamed Reticulocyte Why the name? Size: 8 microns Shape: irregular & poly lobulated More adhesive Contain ribosomes, mitochondria & golgi complex Produce 30% of total hemoglobin Reticulocytes have transferrin receptors Dr. Amany Hamed Reticulocytes VS mature RBC Dr. Amany Hamed Erythrocytes (RBCs)  Dr. Amany Hamed Biconcave disc shape of RBC Increased ratio of surface area: volume(40% more membrane) Facilitates gas transport More deformable Factors required for normal erythropoiesis Dietary factors Minerals Amino acids Vitamins Iron Vitamin C Copper Folic acid Manganese Vitamin B12 Hormones Erythropoietin Thyroid corticoid Dr. Amany Hamed Dr. Amany Hamed Dr. Amany Hamed Dr. Amany Hamed Normal range of RBCs Average range: 4 – 6 m/µl RBCs Unit: million/microlitter Dr. Amany Hamed Erythrocytosis Erythrocytosis Relative Absolute Physiological Pathological Primary Secondary Systematic hypoxia Local hypoxia  Dr. Amany Hamed 1) Relative Erythrocytosis Causes of relative erythrocytosis: Decreasing plasma volume due to ✓ Dehydration in cases (Vomiting, and diarrhea) ✓ Plasma loss in cases (burns, and enteropathy)  Dr. Amany Hamed 2) Absolute Erythrocytosis A. Physiological absolute erythrocytosis: Increasing RBCs count due to ✓ Excessive smoking ✓ High altitude ✓ Employee  Dr. Amany Hamed 2) Absolute Erythrocytosis B. Pathological absolute erythrocytosis: i. Primary erythrocytosis: There's a problem with the bone marrow cells that become red blood cells; the most common type is polycythemia vera(chronic erythroid leukemia).  Dr. Amany Hamed 2) Absolute Erythrocytosis B. Pathological absolute erythrocytosis: ii. Secondary erythrocytosis: Secondary erythrocytosis results from problems outside of your bone marrow. Secondary erythrocytosis is erythrocytosis that develops secondary to disorders that cause tissue hypoxia. Most secondary erythrocytosis involves your body producing too much of a hormone called erythropoietin (EPO). Like all hormones, EPO is a chemical messenger. EPO tells your bone marrow to make more red blood cells.  Dr. Amany Hamed 2) Absolute Erythrocytosis B. Pathological absolute erythrocytosis: ii. Secondary erythrocytosis: In secondary erythrocytosis, only red blood cells (RBCs) are increased, whereas in polycythemia vera, RBCs, white blood cells (WBCs), and platelets will usually be increased. Any elevation of hemoglobin or hematocrit above normal values for age and sex is considered erythrocytosis.  Dr. Amany Hamed 2) Absolute Erythrocytosis B. Pathological absolute erythrocytosis: ii. Secondary erythrocytosis: Systematic Hypoxia Local Hypoxia Overproduction of EBO causing the Causes: problem in the oxygen-sensing pathway - Renal artery stenosis is due to: - Polycystic kidney disease - Congenital heart disease - Postrenal transplant - Chronic lung disorders - Overproduction of EBO due to - Hypoventilation syndrome renal cancer - Smoking - Hepatocellular carcinoma - High altitude - Drugs (corticosteroids and androgens) Dr. Amany Hamed Erythrocytopenia Erythrocytopenia Relative Absolute Impaired production Increased destruction Blood loss Intrensic Extrinsic Stem cell Erythroblast  Dr. Amany Hamed 1) Relative Erythrocytopenia Causes of relative erythrocytopenia: Increasing plasma volume due to ✓ hemodilution in cases (hemophilia)  Dr. Amany Hamed 2) Absolute Erythrocytopenia Common causes are blood loss, reduced or impaired RBC production, and the destruction of RBCs. A. Impaired production: Impaired production occurs when a low number of RBCs are circulating in the body due to a problem in stem cells, which causes aplastic anemia, or in erythroblast cells, which causes iron deficiency anemia, Sickle cell anemia, and Pernicious anemia. This reduces the person's oxygen levels and can lead to fatigue, pale skin, chest pain, and breathlessness.  Dr. Amany Hamed 2) Absolute Erythrocytopenia B. Increased destruction: Your body makes normal red blood cells, but they are later destroyed. This may happen either intrinsic in cases where the cause is related to the RBC itself, or extrinsic in cases where factors external to the RBC dominate such as certain infections, which may be viral or bacterial. Medicines, such as penicillin, antimalarial medicines, sulfa medicines, or acetaminophen. Hemolytic anemia is a blood condition that occurs when your red blood cells are destroyed faster than they can be replaced. Hemolytic anemia can develop quickly or slowly, and it can be mild or serious.  Dr. Amany Hamed 2) Absolute Erythrocytopenia C. Blood loss: Some causes of acute blood loss include surgery, childbirth, and trauma. However, chronic blood loss is more often responsible for anemia. Chronic blood loss may result from conditions such as heavy menstrual bleeding, stomach ulcer, endometriosis, cancer, or another type of tumor.