Pathophysiology

Pathophysiology

The study of changes in body function resulting from disease or disorder

Clinical manifestations

Signs and symptoms of a disease

Epidemiology

Study of disease factors in a population

Etiology

Cause of a disease

Disorder

A disturbance in body function that can't be corrected by the body

Disease

Signs and symptoms impairing the body's normal function

Syndrome

A set of signs and symptoms occurring together

Incidence

Number of diagnosed cases in a time frame

Morbidity

Number of people with the disease compared to those who don't

Prevalence

How common a disease is

Comorbidity

Presence of other diseases in the same patient

Mortality

Death rate from a disease

Genetics

Study of genes and heredity

Mutations

Changes in DNA base sequence

Single Nucleotide Polymorphism (SNPS)

Variations in a single nucleotide

PKU (Phenylketonuria)

Autosomal recessive condition affecting tyrosine production

Cystic fibrosis

Autosomal recessive condition causing mucus overproduction

Beta-globin disorders

Genetic disorders affecting beta globin protein

Huntington's Disease

Autosomal dominant neurodegenerative disorder

Chromosomal aberrations

Changes in chromosome structure or number

Klinefelter syndrome

XXY genetic condition in males

Epigenetics

Changes in gene expression without altering DNA sequence

Human Microbiome

Bacteria in the body influencing health

Atherosclerosis

Artery wall thickening due to plaque buildup

Angina

Chest pain due to reduced blood flow to the heart

Obesity

Excessive fat accumulation in the body

Smoking

Habit causing various health issues

Hypertension

High blood pressure

Mental health theories

Factors influencing mental well-being

Addiction

Loss of control over substance use despite knowing consequences

Basal ganglia

Brain areas crucial for positive motivation and pleasure from activities like eating and socializing, forming a key part of the brain's reward circuit.

Extended amygdala

Involved in stress-related feelings like anxiety and irritability, motivating individuals to seek drugs again after the high fades, becoming more sensitive with increased drug use.

Prefrontal cortex

Responsible for decision-making, problem-solving, and self-control, the last brain region to mature, influencing impulse control in individuals with substance use disorder.

Alcohol misuse

Clinical manifestations affecting various brain regions like the cerebral cortex, hippocampus, hypothalamus, medulla, cerebellum, and CNS.

Amphetamine like substances

Impact on the brain by stimulating dopamine release in reward centers, leading to heightened pleasure, especially with methamphetamine.

Opioids

Substances with morphine-like effects on the CNS, including synthetic (methadone, fentanyl), semi-synthetic (heroin), and opiates (naturally occurring opioids).

Cannabis

Contains psychoactive ingredients impairing memory and focus.

AUD

Chronic brain disorder characterized by impaired control over alcohol use despite negative consequences.

Addiction

Involves craving, inability to cut down, neglecting other life aspects, and continued substance use despite problems.

Anxiety

State induced by threats to wellbeing, involving psychological, physiological, and behavioral responses.

Diabetes

Involves insulin regulation, amylin, C-peptide, and glucagon in response to blood glucose levels.

Neoplasia

Abnormal cell growth leading to excessive proliferation and loss of differentiation, distinguishing between benign and malignant tumors.

Altered genes in cancer

Mutator genes, oncogenes, and tumor suppressor genes play roles in cancer development.

Hallmarks of cancer

Characteristics like self-sufficiency in growth signals, evasion of apoptosis, and angiogenesis contributing to cancer progression.

Risk factors for cancer

Smoking, diet, obesity, alcohol consumption, UV exposure, and diabetes as factors influencing cancer development.

Tumor cell markers

Substances produced by cancer cells or found on plasma cell membranes, used for screening, diagnosis, and monitoring cancer.

Renal

The nephron is the kidney's functional unit, regulating body volume, pH, electrolytes, eliminating wastes, producing erythropoietin, renin, and activating vitamin D.

Chronic pyelonephritis

Persistent infection leading to kidney scarring, inflammation, decreased urine concentration, diagnosed by urinalysis, ultrasound, treated with antibiotics.

Obstructive renal calculi

Kidney stones causing renal colic, flank pain, hematuria, due to urinary stasis, dehydration, elevated solutes, treated symptomatically.

COPD - emphysema and bronchitis

Chronic inflammation, edema, hyperplasia of bronchial glands, loss of cilia, bronchial wall thickening, fibrosis, leading to persistent cough, dyspnea.

Angina

Chest pain due to reduced blood flow to the heart muscle, a symptom of coronary artery disease, categorized as stable (chronic) or unstable (acute).

Heart failure

Syndrome of cardiac dysfunction leading to inadequate tissue perfusion, characterized by left ventricle dysfunction, right ventricle dysfunction, or both.

Ejection fraction

Percentage of blood ejected from the left ventricle during contraction, normal range 52-74%, below 40% indicates heart failure with reduced ejection fraction.

Left heart failure

Inability to generate adequate cardiac output, leading to pulmonary congestion, systemic perfusion issues, characterized by dyspnea, orthopnea, fatigue.

Right heart failure

Muscle weakness due to left heart failure, resulting in systemic venous congestion, hepatosplenomegaly, ascites, and GI symptoms.

Left Heart Failure (LHF)

Blood dams back into the lungs, causing respiratory symptoms, orthopnea, low BP, weak peripheral pulses, and fatigue. Etiology includes IHD, hypertension, and valve disease, leading to the left side of the heart not pumping well and fluid buildup in the lungs.

Right Heart Failure (RHF)

Blood dams back into the vena cava, resulting in engorged abdominal organs, GI symptoms, ascites, lack of appetite, and dependent edema. Etiology involves pulmonary hypertension from COPD and lung injuries, causing the right side of the heart not to pump well, leading to pain and swelling in the abdomen and fluid buildup in the legs.

Compensatory Measures for Cardiac Output

Includes sympathetic activity increasing heart rate and contractility, myocardial hypertrophy, chamber dilation, and RAAS activation to increase vascular volume. Baroreceptors sense BP drop, SNS releases adrenaline and noradrenaline, and RAAS is initiated to compensate for low cardiac output and vasoconstriction.

Diuretics

Medications that reduce blood volume by increasing sodium excretion, decreasing fluid overload, and reducing the heart's workload. They help decrease blood pressure by reducing total blood volume (preload) and sodium reabsorption by the kidneys. Diuretic classifications include loop, thiazide, potassium-sparing, and osmotic diuretics.

Crohn's Disease

Involves chronic inflammation in any part of the GI tract, commonly affecting the terminal ileum, ascending, and transverse colon. It leads to impaired mucous production, thickened intestinal walls, deep ulcerations, skip lesions, fistulas, and clinical manifestations like diarrhea, weight loss, vomiting, lower abdominal pain, bleeding, and possible vitamin B12 deficiency.

Ulcerative Colitis

An inflammatory disease affecting the colon and rectum, characterized by ulcerations in the mucosal layer. It presents with symptoms like periods of remission and exacerbation, diarrhea, bloody stools, cramps, weight loss, anemia, and fever. Treatment involves symptom management, pharmacologic treatment, dietary changes, and sometimes surgical interventions.

Diverticulitis

Involves small herniations of the mucosa through the colon walls, leading to diverticulosis and inflammation or infection known as diverticulitis. Clinical manifestations include abdominal pain, bloating, flatulence, change in bowel habits, palpable mass, symptoms of infection, and bleeding. Treatment includes dietary modifications, fluid intake, fiber supplements, stool softeners, weight reduction, clear liquid diet, antibiotics, and surgery for severe cases.