Marie Shared "Untitled Playlist" - 48 Picmonics

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Untitled Playlist

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
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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
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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
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3 mins
Myotonic Dystrophy
Pathophysiology
Autosomal Dominant
Trinucleotide Repeat
CTG
Signs and Symptoms
Facial Muscle Weakness
Frontal Balding
Sustained Grip
Conduction Defects
Cataracts
Selective Atrophy of Type 1 Fibers
Testicular Atrophy
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2 mins
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
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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
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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)
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2 mins
Angelman's Syndrome
Mechanism
Paternal Imprinting
Deletion of Chromosome 15q (Maternal Deletion)
Signs And Symptoms
Happy Puppet Syndrome
Inappropriate Laughter
Ataxia
Severe Intellectual Disability (Mental Retardation)
Seizure
Abnormal EEG
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2 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
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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
Prader-Willi Syndrome
Mechanism
Maternal Imprinting
Deletion of Chromosome 15q (Paternal Deletion)
Signs And Symptoms
Hyperphagia
Truncal Obesity
Hypogonadism
Undescended Testicles (Cryptorchidism)
Intellectual Disability (Mental Retardation)
Neonatal Hypotonia (Floppy Baby)
Almond Shaped Eyes
Narrow Bifrontal Diameter
Thin Upper Lip
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3 mins
Williams Syndrome
Pathophysiology
Microdeletion Of Long Arm Of Chromosome 7
Elastin Gene
Signs and Symptoms
Elfin Facies
Intellectual Disability (Mental Retardation)
Extreme Friendliness With Strangers
Well Developed Verbal Skills
Cardiovascular Problems
Hypercalcemia
Increased Sensitivity To Vitamin D
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2 mins
Fructose Intolerance
Pathophysiology
Deficiency of Aldolase B
Fructose 1-P To DHAP And GA
Accumulation Of Fructose-1-Phosphate
Inhibition Of Glycogenolysis
Inhibition Of Gluconeogenesis
Clinical Features
Hypoglycemia
Vomiting
Jaundice
Cirrhosis
Autosomal Recessive
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2 mins
Classic Galactosemia
Pathophysiology
Autosomal Recessive
Galactose-1-phosphate uridyltransferase is Absent (GALT)
Impaired Galactose-1-P to UDP-Galactose
Galactitol Accumulation in Lens
Signs and Symptoms
Infantile Cataracts
Failure to Thrive
Hepatomegaly
Jaundice
Intellectual Disability (Mental retardation)
Increased Risk E. Coli Sepsis
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2 mins
Adenosine Deaminase Deficiency
Adenosine to inosine
Excess ATP
Inhibition of Ribonucleotide Reductase
Prevents DNA synthesis
Decreases B Cells and T Cells
Major cause of SCID
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1 min
Hyperammonemia
Pathophysiology
Hereditary Urea Cycle Defects
Acquired Through Liver Disease
Inhibits the Citric Acid Cycle
Signs & Symptoms
Somnolence
Slurring of Speech
Tremor
Cerebral Edema
Vomiting
Blurring of Vision
Treatment
Limit Protein in Diet
Lactulose
Benzoate Binds Amino Acid for Excretion
Phenylbutyrate
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4 mins
Hartnup Disease
Pathophysiology
Autosomal Recessive
Neutral amino acids
Defective Transporter
Renal and Intestinal cells
Signs and Symptoms
Causes tryptophan excretion in urine
Leads to Pellagra
Diarrhea
Dermatitis
Dementia
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2 mins
Pyruvate Dehydrogenase Deficiency
Characteristics
Acquired from Thiamine Deficiency
Backup of Alanine and Pyruvate
Symptoms and Complications
Neurologic Defects
Lactic Acidosis
Interventions
Ketogenic Nutrients
Lysine and Leucine (Ketogenic Nutrients)
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56 secs
Ornithine Transcarbamylase Deficiency
Pathophysiology
Most Common Urea Cycle Disorder
X-Linked Recessive
Signs and Symptoms
Hyperammonemia
Decreased BUN
Carbamoyl Phosphate is Converted to Orotic Acid
Pyrimidine Synthesis Pathway
Evident in Babies
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3 mins
Essential Fructosuria
Autosomal Recessive
Defect in fructokinase
Fructose to fructose 1-P
Benign
Fructose appears in blood and urine
Fructose does not enter cells
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53 secs

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