Disease (Pathology) Library
Recommended Reading: 【Bioinformatics】 Bioinformatics Analysis Table of Contents
1. Overview
3. Organ-Specific Functional Diseases
1. Overview
⑴ Category 1. Cancer Diseases
⑵ Category 2. Organ-Specific Functional Diseases
① 2-1. Respiratory Diseases
② 2-2. Metabolic Diseases
○ Intestinal Diseases
○ Liver Diseases
○ Diabetes
③ 2-3. Skin Diseases
○ Liver Fibrosis
○ Lung Fibrosis
○ Idiopathic Pulmonary Fibrosis
○ Scleroderma
④ 2-4. Neurodegenerative Diseases
○ Brain Diseases
○ Neurological Disorders
⑶ Category 3. Immune System Diseases
① 3-1. Infectious Diseases: Viral diseases, etc.
② 3-2. Inflammatory Diseases
③ 3-3. Autoimmune Diseases
④ 3-4. Immune Evasion Diseases: AIDS, etc.
⑷ Category 4. Aging: Recent views consider aging as a disease.
2. Cancer Diseases
○ BRCA (Breast Cancer)
○ Metastatic breast cancer (MBC) has a worse prognosis than TNBC and shows greater resistance to chemotherapy.
○ ccRCC (Clear Cell Renal Cell Carcinoma)
○ Accounts for 70-80% of RCC (Renal Cell Carcinoma).
○ GBM (Glioblastoma)
○ Average survival is 12 ~ 18 months.
○ HNSCC (Head and Neck Squamous Cell Carcinoma)
○ 6th most common cancer globally: 838,860 cases annually.
○ ~50% 5-year survival rate.
○ Melanoma
○ (+) MAGEA3, HSPA8, NACA, HLA-G.
○ OSCC (Oral Squamous Cell Carcinoma)
○ Most common head and neck cancer.
○ Accounts for over 90% of cancers originating in the oral mucosal epithelium.
○ RCC (Renal Cell Carcinoma)
3. Organ-Specific Functional Diseases
○ AD (Alzheimer’s Disease)
○ (-) NEUROD6.
○ ALF (Acute Liver Failure): Mortality exceeds 50%.
○ CAD (Coronary Artery Disease)
○ The most prevalent heart disease: Accounts for one-third of deaths under the age of 35.
○ Treated with antithrombotics.
○ Hercules Syndrome
○ Excessive skeletal muscle development due to myostatin deficiency. Visceral muscles are normal. Can strain ligaments, tendons, kidneys, etc.
○ Myostatin: Inhibits skeletal muscle development and growth. Involved in ligament and tendon formation and development.
○ Myocardial Infarction: Predicted by elevated ST segment on ECG.
○ MAFLD (Metabolic Dysfunction-Associated Fatty Liver Disease)
○ Formerly known as NAFLD (Nonalcoholic Fatty Liver Disease).
○ Affects about 25% of the adult population worldwide, 40% in the US.
○ Emerged as a new disease in the 1980s.
○ NASH: 20 ~ 30% of NAFLD progresses to NASH.
○ Overview
○ First recorded by a physician named James Parkinson in 1817
○ Since 2020, over one million people in the United States have been suffering from Parkinson’s disease: it causes an economic burden of $52 billion annually
○ Causes
○ The basal ganglia and cerebellum are involved in gauging distances to objects: the basal ganglia are the motor centers
○ Dopamine is produced in the substantia nigra of the midbrain → Dopamine neurons control movement
○ Parkinson’s disease results in impaired movement control due to damage to dopamine neurons
○ Symptoms: Typically manifest after age 50
○ Tremor when at rest
○ Rigidity in arms, legs, and body
○ Bradykinesia (slowing of movement)
○ Postural instability
○ Diagnosis 1. MDS-UPDRS (Movement Disorder Society Unified Parkinson’s Disease Rating Scale)
○ Part I: Non-Motor Experiences of Daily Living (13 items)
○ Part II: Motor Experiences of Daily Living (13 items)
○ Part III: Motor Examination (33 items)
○ Part IV: Motor Complications (6 items)
○ Diagnosis 2. H&Y (Hoehn and Yahr) Scale
○ Stage I: Unilateral involvement
○ Stage II: Bilateral involvement, intact balance
○ Stage III: Bilateral disease, postural instability
○ Stage IV: Severe physical disability, but can still stand unassisted
○ Stage V: Wheelchair-bound
○ Treatments
○ Dopamine: L-Dopa can cross the BBB, but D-Dopa cannot
○ Levodopa preparations: Supplement dopamine
○ COMT inhibitors: Maximize dopamine utilization or increase efficiency
○ Requip, Mirapex: Supply alternative dopaminergic substances
○ Neuroprotective treatments like Umax, Tocopherol: Protect damaged dopamine neurons
○ MAO-B inhibitors: Delay the shutdown of dopamine production
○ Amantadine: Increases the remaining production capacity of dopamine
○ Dopamine receptor agonists
○ Dopamine-degrading enzyme inhibitors
○ Psoriasis
○ Chronic, inflammatory skin disease
○ Epidemiology: 0.2 to 2.5%. >100 million people with psoriasis worldwide. >4M Americans.
○ Economic burden: > $11 billion
○ Heritability: ~66%
○ Pulmonary Fibrosis: 3-year survival rate is only 50%.
○ Rett’s Syndrome: Related to methylated cytosine.
4. Immune System Diseases
○ HBV and HCV: Symptoms of HBV and HCV are similar.
○ Jaundice
○ Joint and muscle aches
○ Loss of appetite
○ Vomiting
○ Dark urine
○ HIV
○ Night sweats
○ Profound fatigue
○ Dry cough
○ Rapid weight loss
○ Rash
Input: 2023.10.10 14:46