Lincoln Shared "pathoma" - 134 Picmonics

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pathoma

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
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2 mins
Chediak-Higashi Syndrome
Pathophysiology
Autosomal Recessive
Defective Lysosomal Trafficking Regulator Gene (LYST)
Defect In Microtubular Function
Decrease In Phagocytosis
Signs And Symptoms
Recurrent Pyogenic Infections
Staph Aureus And Streptococci
Partial Albinism
Peripheral Neuropathy
Pancytopenia
Diagnosis
Giant Granules In Granulocytes And Platelets
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2 mins
Chronic Granulomatous Disease
Pathophysiology
Most Commonly X-linked Recessive
Defective NADPH Oxidase (Enzyme Complex)
Decreased Hydrogen Peroxide
Impaired Intracellular Killing in Phagocytes
Signs and Symptoms
Recurrent Purulent Skin and Lung Infections
Catalase Positive Organisms
Diagnosis
Negative Nitroblue Tetrazolium Test
DHR (Dihydrorhodamine) Flow Cytometry
Treatment
Antimicrobial Prophylaxis
TMP-SMX
Itraconazole
Interferon-Gamma
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3 mins
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
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2 mins
Severe Combined Immunodeficiency (SCID)
Both B and T Cell Deficiency
Recurrent Viral, Bacterial, Fungal, Protozoal Infections
Defective Interleukin (IL) 2 Receptor
X-Linked
Adenosine Deaminase Deficiency
Failure to Synthesize MHC II Antigens
Treat with Bone Marrow Transplant
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2 mins
Bruton's Agammaglobulinemia
Pathophysiology
X-linked Recessive
Defective Bruton Tyrosine Kinase
Blocks B Cell Maturation
Signs & Symptoms
Decreased Immunoglobulins of All Classes
Bacterial Infections After Six Months
Maternal IgG Protects Before Six Months
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2 mins
Hyper IgM Syndrome
Pathophysiology
Deficient CD40 Ligand on Helper T-cells
Defective CD40 Receptor on B-cells
Inability to Class Switch
Signs and Symptoms
Pyogenic Abscess
Decreased IgG, IgA, IgE
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4 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
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2 mins
Systemic Lupus Erythematosus (SLE) Diagnosis and Clinical Features
IM DAMN SHARP acronym
Immunoglobulins
Malar rash
Discoid rash
Antinuclear antibody
Mucositis
Neurologic disorders
Serositis
Hematologic disorders
Arthritis
Renal disorders
Photosensitivity
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2 mins
Sjögren’s Syndrome
Mechanism
Autoimmune Exocrine Gland Destruction
Symptoms (Classic Triad)
Xerostomia
Xerophthalmia
Arthritis
Diagnosis
Anti SS-B (La)
Anti SS-A (Ro)
Schirmer's Test
Salivary Gland Biopsy
Treatment
Symptomatic Treatment
Complications
Lymphoma
Other
Sicca Syndrome
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4 mins
Bernard-Soulier Syndrome
Mechanism
Autosomal Recessive
Deficiency of Glycoprotein Ib (GpIb) Receptor
Symptoms
Mucosal Membrane Bleeding
Menorrhagia
Easy Bruising
Labs
Large Platelets
Increased Bleeding Time
No Platelet Agglutination with Ristocetin
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3 mins
Von Willebrand Disease
Mixed platelet and coagulation disorder
Mechanism
Autosomal Dominant Condition Leading to Reduced vWF
Defect in platelet plug formation
Labs
Increased Bleeding Time
PTT increased
Factor VIII decreased
Normal platelet count
Treatment
DDAVP (synthetic vasopressin)
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1 min
Disseminated Intravascular Coagulation (DIC)
Pathophysiology
Bleeding state
Activation of clotting factors
Deficiency of clotting factors
Causes
Sepsis
Trauma
Obstetric complications
Acute Pancreatitis
Malignancy
Nephrotic Syndrome
Transfusion
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2 mins
Plummer-Vinson Syndrome
Triad of Symptoms
Dysphagia
Esophageal Webs
Glossitis
Iron Deficiency Anemia
Association
Squamous Cell Cancer of Esophagus
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1 min
Hereditary Spherocytosis Disease
Northern Europeans
Mechanisms
Autosomal Dominant
Spectrin/Ankyrin Deficiency
Spherocyte Formation
Hemolytic Anemia
Symptoms
Bilirubin Gallstones
Jaundice
Splenomegaly
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3 mins
Sickle Cell Anemia (Signs and Complications)
Signs
Crew-cut on Skull X-ray
Complications
Auto-splenectomy
Painful Crisis
Aplastic Crisis
Splenic-sequestration Crisis
Hyper-hemolytic Syndrome
Renal Papillary Necrosis
Salmonella osteomyelitis
Pulmonary Hypertension
Hyposthenuria
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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
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3 mins
Epstein Barr Virus Mononucleosis
Mononucleosis
Fever
Hepatomegaly
Splenomegaly
Pharyngitis
Posterior Cervical Lymphadenopathy
Atypical Lymphocytes
Heterophile Antibodies
Rash Develops if treated with Ampicillin
Hodgkin's Lymphoma
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2 mins
Acute Lymphoblastic Leukemia (ALL)
Ages < 15
May Present with Bone Marrow Involvement in Children
Mediastinal Mass in Adolescents
TdT Positive
CALLA Positive
t(12;21) Better Prognosis
Spread to CNS and Testes
Most Responsive to Chemotherapy
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2 mins
Acute Myelogenous Leukemia (AML)
Myeloblasts Increase on Peripheral Smear
Median Onset 60 Years
T 15;17 M3 Subtype
Auer Rods
Disseminated Intravascular Coagulation (DIC) is a Common Presentation
M5 Gum Infiltration
Responds to Vitamin A
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3 mins

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