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Module 7 Midterm
Thymic Aplasia (DiGeorge Syndrome)
Pathophysiology
DiGeorge Syndrome
22q11 Deletion
Failure to Develop Third and Fourth Pharyngeal Pouches
Signs and Symptoms
Undeveloped Thymus
T Cell Deficiency
Recurrent Viral and Fungal Infections
Undeveloped Parathyroids
Hypocalcemia
Tetany
Aortic Defects
Congenital Heart Defects
Diagnosis
Absent Thymic Shadow on CXR
2 mins
Wiskott Aldrich
Pathophysiology
X-linked Recessive
WASp Protein Mutation
Antigen Presentation Defect
Progressive Deletion of B and T Cells
Signs and Symptoms
Thrombocytopenia
Eczema
Infections
Decreased IgM
Increased IgE, IgA
2 mins
Rheumatoid Arthritis Assessment
Mechanism
Destruction of Connective Tissue and Synovial Membrane
Granulomatosis with Polyangiitis (GPA) Characteristics
Pathophysiology
Small Vessel Vasculitis
Necrotizing
Lungs and Upper Airway
Crescentic Glomerulonephritis
DIAGNOSTICS
c-ANCA
X-ray
Multiple Nodules in Lungs
Treatment
Cyclophosphamide
Corticosteroids
Rituximab
3 mins
Sarcoidosis Symptoms
Black Females
Symptoms
Asymptomatic
Uveitis
Interstitial Fibrosis
Erythema Nodosum
Hepatomegaly
Myocardial Sarcoidosis
Lupus Pernio
1 min
Sarcoidosis Characteristics and Labs
Mechanism
Unknown Mechanism
Immune-mediated
Noncaseating granulomas
Vitamin D activation
Labs
Hypercalcemia
Elevated ACE
Asteroid bodies
X-Ray shows Bilateral hilar lymphadenopathy
Treatment
Corticosteroids
1 min
HIV CD4+ 500
Signs and Symptoms
Candida albicans (Oral Thrush)
Kaposi's Sarcoma (HHV-8)
Human Papillomavirus (HPV)
Epstein-Barr Virus (Oral Hairy Leukoplakia)
3 mins
HIV CD4+ 200
Signs and Symptoms
Herpes Simplex Virus (HSV)
JC Virus
Progressive Multifocal Leukoencephalopathy (PML)
Pneumocystis Pneumonia
(HIV) Dementia
Histoplasmosis
3 mins
HIV CD4+ 100
Signs and Symptoms
Aspergillus fumigatus
Cryptococcus neoformans
Candida albicans (Esophagitis)
Mycobacterium avium complex (MAC)
Cytomegalovirus (CMV)
Epstein-Barr virus (EBV) B-cell lymphoma
Toxoplasma gondii
Cryptosporidium
Bartonella henselae
5 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 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
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
Leukocyte Adhesion Deficiency
Pathophysiology
Autosomal Recessive
Integrin CD18 Protein
Defect in LFA-1
Attached to ICAM
Signs and Symptoms
Neutrophilia
Bacterial Infections
Non-Pyogenic
Delayed Separation of Umbilical Cord
2 mins
Paroxysmal Nocturnal Hemoglobinuria (PNH)
Pathophysiology
Defective PIG-A Gene
Deficiency of DAF (Decay Accelerating Factor CD55)
Symptoms
Dark Urine in the Morning
Intravascular Hemolysis
Thrombosis
Diagnosis
Decreased CD55 and CD59
Treatment
RBC Transfusion
Eculizumab
Bone Marrow Transplant is Curative
3 mins
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