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Cody Shared "Biochem Focus" - 75 Picmonics

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Biochem Focus

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
Alport Syndrome
Pathophysiology
Nephritic
X-linked
Mutation in Type IV Collagen
Diagnosis
Split Basement Membrane
Basket Weave Appearance
Signs and Symptoms
Ocular Disorders
Deafness
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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
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
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
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
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)
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2 mins
Quad Screen Results Interpretation
Markers
AFP
Estriol
hCG
Inhibin A
Associations
Increased hCG + Inhibin A (HIgh)
Down Syndrome
Decreased hCG + Estriol + AFP (Low HEAp)
Edward Syndrome
Increased AFP
Neural Tube Defects
Abdominal Wall Defects
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2 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
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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
Cardiac Abnormalities
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3 mins
Vitamin A (Retinol) Function and Deficiency
Mechanism
Retinol
Constituent of Visual Pigments
Differentiation of Epithelial Cells into Specialized Tissue
Signs and Symptoms
Night Blindness
Dry Skin
Considerations
Used to Treat Measles
Antioxidant
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2 mins
Vitamin A (Retinol) Toxicity
Signs and Symptoms
Alopecia
Vision Changes
Headache
Skin Changes
Hyperlipidemia
Hepatotoxicity
Arthralgias
Teratogen
Cleft palate
Cardiac Abnormalities
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3 mins
Vitamin B1 (Thiamine)
Mechanism
Branched-chain Ketoacid Dehydrogenase
Pyruvate Dehydrogenase
Alpha-ketoglutarate Dehydrogenase
Transketolase
DEFICIENCY EFFECTS
Wernicke-Korsakoff Syndrome
Beriberi
ATP Depletion
Aerobic Tissues Like Brain and Heart Affected First
Considerations
Deficiency Can Worsen with Glucose Infusion
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2 mins
Beriberi (Thiamine Deficiency)
Thiamine Deficiency
Dry Beriberi
Polyneuritis
Muscle Wasting
Wet Beriberi
Dilated Cardiomyopathy
Edema
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51 secs
Wernicke-Korsakoff Syndrome
Thiamine deficiency
Confusion
Ophthalmoplegia
Ataxia
Korsakoff
Confabulation
Personality Changes
Memory loss
Alcoholics
Damage to medial dorsal nucleus
Damage to mammillary bodies
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2 mins
Riboflavin (Vitamin B2)
Classification
Vitamin B2
Biochemistry
FAD
FAD Makes 1.5 ATP
Succinate to Fumarate
DEFICIENCY
Glossitis
Cheilosis
Corneal Vascularization
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2 mins
Vitamin B3 (Niacin)
Derived from Tryptophan
Synthesis Requires Vitamin B6
Constituent of NAD+
Deficiency Causes
Hartnup Disease
Carcinoid Syndrome
Deficiency Symptoms
Pellagra
Diarrhea
Dermatitis
Dementia
Glossitis
Excess Symptoms
Flushing
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2 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
Vitamin B5 (Pantothenate)
Mechanism
Pantothenate
Pyruvate Dehydrogenase
Coenzyme A
Fatty Acid Synthase
Deficiency Signs and Symptoms
Enteritis
Dermatitis
Alopecia
Adrenal Insufficiency
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2 mins
Vitamin B6 (Pyridoxine)
Pyridoxal Phosphate
Mechanism
Transamination
Decarboxylation
Glycogen Phosphorylase
Cystathionine Synthase
Functions
Heme Synthesis
Niacin Synthesis
Neurotransmitter Synthesis
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2 mins

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