Justin Shared "MFM Exam 7" - 44 Picmonics
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MFM Exam 7
Down Syndrome
- Pathophysiology
- Trisomy 21
- Meiotic Nondisjunction
- Signs and Symptoms
- Intellectual Disability (Mental Retardation)
- Single palmar crease
- Flat Facies
- Duodenal Atresia
- Hirschsprung's Disease
- Septum Primum Type ASD
- Endocardial Cushion Defects
- Prominent Epicanthal Folds
- Increased Risk of Acute Lymphoblastic Leukemia
- Alzheimer's Disease
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
Patau Syndrome
- Pathophysiology
- Trisomy 13
- Signs and Symptoms
- Severe Intellectual Disability
- Microcephaly
- Holoprosencephaly
- Microphthalmia
- Polydactyly
- Cleft Lip/Cleft Palate
- Rocker Bottom Feet
- Omphalocele
- Cystic Kidneys
- Ventricular Septal Defect (VSD)
2 mins
Turner Syndrome
- Signs and Symptoms
- Female (XO)
- Short stature
- Shield Chest
- Cystic Hygroma (Webbing of Neck)
- Lymphedema in Hands and Feet
- Ovarian Dysgenesis
- Streak Ovary
- Decreased Estrogen
- Increased FSH
- Increased LH
- Dysgerminoma
- Bicuspid Aortic Valve
- Preductal Coarctation of the Aorta
- Horseshoe Kidney
- Menopause before Menarche
- Amenorrhea
5 mins
Klinefelter's Syndrome
- Pathophysiology
- Male (XXY)
- Signs and Symptoms
- Eunuchoid Body Shape
- Gynecomastia and Female Hair Distribution
- Testicular Atrophy
- Dysgenesis of Seminiferous Tubules
- Possible Developmental Delay
- Hypogonadism
- Decreased Inhibin B
- Increased FSH
- Abnormal Leydig Cell Function
- Decreased Testosterone
- Increased LH
- Increased Estrogen
- Barr body (inactivated X chromosome)
6 mins
Cri Du Chat
- Pathophysiology
- Congenital Deletion of Short Arm of Chromosome 5p
- Signs and Symptoms
- High Pitched Cry/Mewing
- Microcephaly
- Hypotonia
- Difficulty Sucking and Swallowing
- Epicanthal Folds
- Widely Spaced Eyes
- Wide & Flat Nasal Bridge
- High Arched Palate
- Intellectual Disability
- Cardiac Abnormalities
3 mins
Williams Syndrome
- Pathophysiology
- Microdeletion Of Long Arm Of Chromosome 7
- Elastin Gene
- Signs and Symptoms
- Elfin Facies
- Intellectual Disability
- Extreme Friendliness with Strangers
- Well Developed Verbal Skills
- Cardiovascular Problems
- Hypercalcemia
- Increased Sensitivity To Vitamin D
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
2 mins
Chronic Myelogenous Leukemia (CML)
- Pathophysiology
- BCR-ABL
- 9;22 Translocation
- Philadelphia Chromosome
- Signs & Symptoms
- Tyrosine Kinase
- Low Alkaline Phosphatase
- Splenomegaly
- Considerations
- Blast Crisis
- Age 30 to 90 Years
- Responds to Imatinib
3 mins
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
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
Neurofibromatosis Type 1
- Pathophysiology
- Autosomal Dominant
- Chromosome 17
- Signs and Symptoms
- Neurofibromas
- Optic Glioma
- Lisch Nodules
- Hamartomas
- Cafe Au Lait Spots
- Scoliosis
- Pheochromocytoma
4 mins
Hypercholesterolemia Disease
- Risk Factors
- Diabetes
- Smoking
- Family History
- Hypertension
- HDL < 40
- Men Older than 45 Years of Age
- Women Older than 55 Years of Age
- Signs and Symptoms
- Atheromas
- Plaques in Blood Vessel Walls
- Tissue Ischemia
- Xanthomas
- Lipemia Retinalis
2 mins
Huntington's Disease
- Pathophysiology
- Autosomal Dominant
- Trinucleotide Repeat
- CAG Repeats
- Chromosome 4
- Anticipation
- Caudate
- Decrease of ACh
- Decrease of GABA
- Signs and Symptoms
- Chorea
- Dementia
- Depression
- Glutamate Toxicity
- Neuronal Death via NMDA Binding
3 mins
Hereditary Spherocytosis Disease
- Northern Europeans
- Mechanisms
- Autosomal Dominant
- Spectrin/Ankyrin Deficiency
- Spherocyte Formation
- Hemolytic Anemia
- Symptoms
- Bilirubin Gallstones
- Jaundice
- Splenomegaly
3 mins
Acute Intermittent Porphyria (AIP)
- Pathophysiology
- Autosomal Dominant
- Inhibited Porphobilinogen Deaminase
- Increased Serum Porphobilinogen
- Increased Serum Delta-ALA
- Increased Urinary Porphyrin Precursors
- Signs & Symptoms
- Precipitated By P450 Inducers
- Painful Abdomen
- Polyneuropathy
- Psychological Disturbances
- Port Wine-Colored Urine
- Treatment
- Glucose and Hemin
- Considerations
- Avoid Triggers
3 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
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)
2 mins
Cori Disease
- Pathophysiology
- Type III Glycogen Storage Disease
- Deficiency of Alpha 1, 6 Glucosidase
- Debranching Enzyme
- Limit-Dextrin Accumulation (In Cytosolic Structures)
- Signs and Symptoms
- Hypoglycemia
- Muscle Weakness
- Hypotonia
- Stunted Growth
- Hepatomegaly
- Diagnosis
- Normal Blood Lactic Acid Levels
- Gluconeogenesis Intact
- Increased LFT's
- Increased Creatine Kinase (CK/CPK)
- Treatment
- Continuous Feeding
- High Protein Diet
- Cornstarch (Uncooked)
4 mins
McArdles Disease
- Pathophysiology
- Type V Glycogen Storage Disease
- Muscle Glycogen Phosphorylase Deficiency
- Signs and Symptoms
- Increased Glycogen in Muscle
- Painful Muscle Cramps
- Myoglobinuria
- Normal Lactic Acid
- Treatment
- Vitamin B6
2 mins
