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Path V
Gilbert's Syndrome
Pathophysiology
Decreased UDP-Glucuronosyltransferase Activity
Decreased Bilirubin Conjugation
Signs and Symptoms
Often Asymptomatic
Jaundice (Mild)
Fasting
Stress
Alcohol Intake
Labs
Increased Unconjugated Bilirubin
2 mins
Cystic Fibrosis Mechanisms
Autosomal Recessive
CFTR Chromosome 7
Cl- channel Defect
Decreased Chloride Secretion
Increased Na and Water Reabsorption
Increased Na and Cl in Sweat
Dehydration of Mucous Layers
2 mins
Cystic Fibrosis Symptoms and Complications
Recurrent Pulmonary Infections
Chronic Bronchitis
Nasal Polyps
Pancreatic Insufficiency
Intestinal Obstruction
Malabsorption and Diarrhea
Vitamin Deficiencies
Chronic Hepatic Disease
Infertility in Males
1 min
Cystic Fibrosis Diagnosis and Treatment
Diagnosis
Sweat Chloride Test > 60 mmol/L
Meconium Ileus
Treatment
N-acetylcysteine
Antibiotic Prophylaxis
Pulmonary Maintenance
Lung Transplant
Vitamin Replacement
1 min
Peutz-Jeghers Syndrome
Mechanism and Characteristics
Symptomatic Age: 10-30 Years
LKB1/STK11 Gene Mutation
Autosomal Dominant
Signs and Symptoms
Benign GI Hamartomatous Polyps
Mucocutaneous Hyperpigmentation
Positive Family History
Increased Risk of Colorectal Carcinoma
1 min
Carcinoid Syndrome
Pathophysiology
Neuroendocrine Cells
Serotonin
Appendix
Diagnosis
Chromogranin A
Neuron Specific Enolase
Dense Core Bodies on EM
Signs and Symptoms
Symptoms When Metastasize to Liver
Flushing
Wheezing
Right Heart Murmur
Diarrhea
4 mins
Graves' Disease Characteristics
Women 20-40 years old
Pathophysiology
Anti-TSH Receptor Antibodies
Symptoms
Ophthalmopathy
Exophthalmos
Hyperthyroidism
Goiter
Pretibial Myxedema
1 min
Graves' Disease Labs and Treatment
Labs
Decreased TSH
Increased T3
Increased T4
Radioactive Iodine Uptake (RAIU)
Treatment
Beta blocker
Methimazole
Radioiodine Ablation
1 min
Hyperthyroidism Assessment
Assessment
Heat Intolerance
Exophthalmos
Warm, Moist Skin and Silky Hair
Tremors
Goiter
Diarrhea
Weight Loss
Tachycardia
Hypertension
Amenorrhea
Diagnosis
Decreased TSH with Elevated Free T4
Radioactive Iodine Uptake (RAIU)
2 mins
Hashimoto's Thyroiditis
Symptoms
Hypothyroidism with Bouts of Hyperthyroidism
Enlarged, Nontender Thyroid
Mechanism
Autoimmune
Anti-Thyroid Peroxidase (TPO)
Anti-Thyroglobulin
Lab Findings
Hurthle Cells
Lymphoid Follicles
Associations
HLA-DR5 and HLA-DR3
Increased Risk Of Non-Hodgkin Lymphoma
2 mins
Sheehan's Syndrome
Postpartum Pituitary Gland Necrosis
Agalactorrhea
Amenorrhea
Secondary Hypothyroidism with Cold Intolerance
1 min
Polycystic Ovarian Syndrome (PCOS) Symptoms and Diagnosis
Symptoms
Most Common Cause of Infertility in Women
Amenorrhea
Acne
Hirsutism
Obesity
Diagnosis
Enlarged, Cystic Ovaries
LH:FSH Ratio of 3:1
"String of Pearls" on Ultrasound
1 min
Polycystic Ovarian Syndrome (PCOS) Mechanism
Mechanism
Hyperinsulinemia Increases GnRH Pulse Frequency
Large Increase in LH
Small Decrease in FSH
Increased Androgen Production From Theca-Lutein Cells
No Internal Reproductive Structures Due to Mullerian Inhibitory Factor
XX Externally Phenotypic Female
Sexual Infantilism
2 mins
11 Beta-Hydroxylase Deficiency
Pathophysiology
Decreased Cortisol
Decreased Aldosterone
Increased Sex Hormones
Increased 11 Deoxycorticosterone (11 DOC)
Signs and Symptoms
Hypertension
Masculinization
1 min
Waterhouse-Friderichsen Syndrome
Acute 1° Adrenal Insufficiency
Adrenal Hemorrhage
Hypotension
Neisseria meningitidis
DIC
1 min
Cushing's Syndrome Symptoms And Diagnosis
Symptoms/Findings
Osteoporosis
Amenorrhea
Truncal Obesity
Skin Changes
Buffalo Hump
Immune Suppression
Moon Facies
Hypertension
Decreased Insulin Sensitivity
Diagnosis
24-hour urine free Cortisol
Dexamethasone Suppression Test
2 mins
Pheochromocytoma
Cause/Mechanism
Adrenal Medulla Tumor
Increased Catecholamines
Assessment
Episodic Hypertension
Diaphoresis
Abdominal or Chest Pain
Interventions
Surgery
Antihypertensives
Phenoxybenzamine
Metyrosine (Demser)
Considerations
Do Not Palpate Abdomen
3 mins
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