Elizabeth Shared "Week 2_FMS" - 36 Picmonics

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Week 2_FMS

Fragile X
Pathophysiology
Trinucleotide Repeat
CGG Repeats
FMR1 Gene
X-linked Dominant
Signs and Symptoms
Developmental Delay
Autism
Large Ears
Large Jaw
Long Face
Macroorchidism
2 mins
Friedreich's Ataxia
Trinucleotide Repeat
GAA Repeat
Frataxin
Mitochondrial Dysfunction
Autosomal Recessive
Hammertoes
High Arches
Kyphoscoliosis
Lateral Corticospinal Tract
Posterior Column
Spinocerebellar Tract
Type I Diabetes Mellitus
Hypertrophic Cardiomyopathy
1 min
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
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 (Mental Retardation)
Cardiac Abnormalities
2 mins
Patau's Syndrome
Trisomy 13
Severe Intellectual Disability (Mental Retardation)
Microcephaly
Holoprosencephaly
Microphthalmia
Polydactyly
Cleft lip/cleft palate
Rocker bottom feet
Cystic kidneys
Ventricular Septal Defect (VSD)
2 mins
Tay-Sachs Disease
Pathophysiology
Autosomal Recessive
Hexosaminidase A Deficiency
Increased GM2 Ganglioside
More Common in Ashkenazi Jewish Population
Signs and Symptoms
Cherry Red Spot on Macula
Neurodegeneration
Developmental Delay
Diagnosis
Onion Skin Lysosomes
1 min
Down Syndrome
Pathophysiology
Trisomy 21
Meiotic Nondisjunction
Signs and Symptoms
Intellectual Disability (Mental Retardation)
Simian 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
2 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
2 mins
Phenylketonuria (PKU)
Pathophysiology
Decreased phenylalanine hydroxylase
Decreased tetrahydrobiopterin cofactor
Autosomal Recessive
Tyrosine Becomes Essential
Phenylalanine found in Nutrasweet
Symptoms
Musty or mousy body odor
Growth retardation
Seizures
Intellectual Disability (Mental Retardation)
Hypopigmentation
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
DNA Base Pairing
Characteristics
3' End
5' End
Antiparallel Base Pairing
Complementary Strands Pair
Thymine And Adenine Pair
2 Hydrogen Bonds
Adenine and Uracil Pair in RNA
Guanine And Cytosine Pair
3 Hydrogen Bonds
3 mins
RNA
Characteristics
mRNA
3' Poly A Tail
5' Cap
Template For Translation
rRNA
Catalyzes Amino Acid Bonds
Component of Ribosome Enzyme
tRNA
Anticodon Region
3' Tail Bind To Amino Acid
2 mins
Transcription Overview
Initiation
RNA Polymerase binds Promoter
Elongation
DNA Opens by Helicase
RNA Polymerase reads 3' to 5'
Nucleotides added to 3' end
Termination
Stem Loop Formation
Rho protein factor
3 mins
Eukaryotic Transcription Regulation
DNA Silencer Region
Transcription Factors bind Silencer Region
Decreased Transcription
Co-factors can deactivate factors
Co-factors can activate factors
DNA Enhancer Region
Transcription Factors bind Enhancer Region
Increased Transcription
Enhancer and Silencer regions can be far from Promoter
2 mins
Codon Overview
Characteristics
mRNA Read In Three Nucleotide Chunks
AUG Is Start Codon
Matching tRNA Anticodon
Amino Acid Specific (To Codon)
AUG Codes For Methionine
UAA, UAG And UGA Are Termination Codons
2 mins
Eukaryotic Post Transcriptional Modification
Modifications in Nucleus
mRNA Splicing
Introns Cut Out
Exons spliced together
Alternate Splicing
5' Cap added
3' Poly A tail added
Transported to Cytosol
2 mins
Translation: Initiation
Translation: Initiation
Ribosome Binds mRNA
Complex Reads 5' to 3'
AUG Start Codon
Initiation Complex Forms
GTP and Initiation Factor Bring Complex Together
Met-tRNA Binds P Site
tRNA With Bound Amino Acids Binds A Site
Amino Acid Chain Created in Elongation
3 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
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
Sickle Cell Anemia (Mechanism)
Intrinsic Normocytic Hemolytic Anemia
Point Mutation
Autosomal Recessive
African-American
Dehydration or Decreased O2
Newborns Asymptomatic
Heterozygote Malarial Resistance
2 mins

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