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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
2 mins
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