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Esdras Shared "FTM2" - 167 Picmonics

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FTM2

Hunter Syndrome
Pathophysiology
X-linked Recessive
Mucopolysaccharidoses
Iduronate Sulfatase Deficiency
Increased Dermatan Sulfate
Increased Heparan Sulfate
Signs and Symptoms
No Corneal Clouding
Aggressive Behavior
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1 min
Hurler Syndrome
Pathophysiology
Autosomal Recessive
Mucopolysaccharidoses
Alpha-L-Iduronidase Deficiency
Increased Heparan Sulfate
Increased Dermatan Sulfate
Signs and Symptoms
Hepatosplenomegaly
Developmental Delay
Gargoylism
Corneal Clouding
Airway Obstruction
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2 mins
I-cell Disease (Inclusion Cell Disease)
Pathophysiology
Mucolipidosis II
Autosomal Recessive
Defective N-acetylglucosaminyl-1-phosphotransferase
Absent Mannose-6-Phosphate on Glycoproteins
Accumulation of Lysosomal Debris
Signs & Symptoms
Coarse Facies
Corneal Clouding
Skeletal Abnormalities
Diagnosis
Increased Plasma Lysosomal Enzymes
Inclusion Bodies
Considerations
Poor Prognosis
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3 mins
Telophase
Cytokinesis Divides Cells
Meiosis I Cell Ends Haploid
Meiosis II Cell Ends Haploid
Mitosis Cell Ends Diploid
Chromosomes Decondense into Chromatin
Nuclear Membrane Reforms
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1 min
Cholecystokinin (CCK)
Secreted by I Cells
Duodenum and Jejunum
Physiology
Increase Pancreatic Secretions
Increase Gallbladder Contraction
Induce Relaxation of Sphincter of Oddi
Decrease Gastric Emptying
Regulation
Increased by Fatty Acids and Amino Acids
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1 min
Vitamin C Mechanism and Deficiency
Mechanism
Ascorbic acid
Antioxidant
Protects Against Free Radicals
Keeps Iron in Reduced State
Hydroxylation of Proline and Lysine
Necessary for Dopamine B Hydroxylase
Deficiency Signs and Symptoms
Scurvy
Swollen Gums
Bruising
Poor Wound Healing
Hemarthrosis
Perifollicular Hemorrhages
Anemia
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4 mins
Osteoporosis Assessment
Highest Risk
Postmenopausal Women
Long Term Corticosteroids
Assessment
Kyphosis
Dowager's Hump
Loss of Height
Back Pain
Pathologic Fractures
Spinal Compression Fracture
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1 min
Antithrombin Deficiency
Characteristics
Autosomal Dominant
Increased Thrombin and Factor X
Heparin Resistance
Hypercoagulability
Diagnosis
Family History
Normal PT, PTT, and Bleeding Time
Antithrombin-Heparin Cofactor Assay
Management
Factor Xa Inhibitors
Direct Thrombin Inhibitors
Low Molecular Weight Heparin
Antithrombin Replacement
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3 mins
Galactokinase Deficiency
Autosomal Recessive
Galactose to Galactose 1P
Galactose Appears in Blood and Urine
Benign
Infantile Cataracts
Failure to Develop a Social Smile
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2 mins
Zinc Deficiency
Mechanism
Used in Over 100 Enzymes
Zinc Finger Formation
Signs and Symptoms
Delayed Wound Healing
Hypogonadism
Decreased Adult Hair
Dysgeusia
Anosmia
Perioral Rash
Acrodermatitis Enteropathica
Increased Risk in Patients with Cirrhosis
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2 mins
Folate Deficiency
Clinical Features
Macrocytic Anemia
Megaloblastic Anemia
Etiologies
Malabsorption
Dietary
Tea and Toast
Alcoholics
Medication-induced
Methotrexate
Trimethoprim
Increased Requirement
Hemolytic Anemia
Pregnancy
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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
Brighton Criteria
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2 mins
Ehlers-Danlos Syndrome Types
Types
Types 1 and 2 - Classical
Type V Collagen Mutation
Joints and Skin
Type 3 - Hypermobility
Most Common
Tenascin X Deficiency
Joint Instability
Type 4 - Vascular
Type III Collagen Mutation
Vascular and Organ Rupture
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2 mins
Zollinger-Ellison Syndrome Disease
Pathophysiology
Gastrin-Secreting Tumor
Increased Gastric Acid
Recurrent Peptic Ulcers
MEN Type 1
Symptoms
Abdominal Pain
Heartburn (Pyrosis)
Diarrhea
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3 mins
Edwards Syndrome
Pathophysiology
Trisomy 18
Signs and Symptoms
Intellectual Disability (Mental Retardation)
Rocker Bottom Feet
Ventricular Septal Defect (VSD)
Clenched Hands
Overlapping Fingers
Low-Set Ears
Micrognathia
Prominent Occiput
Omphalocele
Meckel's Diverticulum
Horseshoe Kidney
Malrotation of Intestines
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3 mins
Osteogenesis Imperfecta
Pathophysiology
Autosomal Dominant
Decreased Type I Collagen Production
Symptoms
Phenotypically Diverse
Brittle Bone Disease
Fractures from Minimal Trauma
Confused with Child Abuse
Hearing Loss
Dental Imperfections
Blue Sclera
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1 min
Achondroplasia
Mechanism
Autosomal Dominant
Advanced Paternal Age
Most Common Cause of Dwarfism
Mutation of FGFR3 (Fibroblast Growth Factor Receptor 3)
Defective Endochondral Ossification
Symptoms
Delayed Motor Milestones
Shortened Limbs with Normal Axial Skeleton Size
May Develop Hydrocephalus
Symptoms of Spinal Stenosis
Normal Life Span and Fertility
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2 mins
Collagen Types
Type I
Dermis
Cornea
Bone
Late Wound Repair
Tendons
Type II
Vitreous Humor
Cartilage
Nucleus Pulposus
Type III
Lymphatics
Bone Marrow
Early Wound Repair
Blood Vessels
Type IV
Basement Membrane
Lens
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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
Psoriasis
Presentation
Epidermal Hyperproliferation Keratinocytes
Defined Red Salmon Plaques
Silvery Scales
Extensor Surfaces
Bleeding when Removed
Auspitz Sign
Pruritus
Nail Changes
Histological Finding
Munro Microabscesses
Nucleated Cells in Stratum Corneum
Treatment
Retinoids
Topical Corticosteroids
Tar
Immunosuppressants
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2 mins

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