Joshua Shared "Josh - Patho 3" - 9 Picmonics

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Josh - Patho 3

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
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
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
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
Marfan Syndrome
Mechanism
Fibrillin-1 Mutation
Symptoms
Autosomal Dominant
Tall
Arachnodactyly
Pectus Excavatum
Hypermobile Joints
Aortic Aneurysm And Dissection
Mitral Valve Prolapse (MVP)
Subluxation of Lens (Superior)
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2 mins
Ehlers-Danlos Syndrome Disease
Pathophysiology
Faulty Collagen Synthesis
Autosomal Dominant or Recessive
Various Severities
Signs and Symptoms
Hypermobile Joints
Hyperextensible Skin
Easy Bruising/Bleeding
Berry (Saccular) Aneurysm
Considerations
Beighton Criteria
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2 mins
Pompe Disease
Pathophysiology
Type II Glycogen Storage Disease
Autosomal Recessive
Deficiency of Lysosomal Alpha 1,4 Glucosidase
Acid Maltase
Signs and Symptoms
Hypertrophic Cardiomyopathy
Hepatomegaly
Macroglossia
Hypotonia
Diagnosis
Increased Glycogen within Lysosomes
Increased Lactate Dehydrogenase (LDH)
Increased Creatine Kinase (CK/CPK)
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2 mins
Von Gierke Disease
Pathophysiology
Autosomal Recessive
Type I Glycogen Storage Disease
Glucose-6-Phosphatase Deficiency
Signs and Symptoms
Increased Glycogen in Liver
Hepatomegaly
Enlarged Kidneys
Severe Fasting Hypoglycemia
Increased Triglycerides
Increased Uric Acid (Gout)
Increased Lactic Acid
Doll-like Facies
Treatment
Continuous Oral Glucose (or Cornstarch)
Avoid Fructose and Galactose
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2 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

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