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
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
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
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
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
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
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
Quad Screen Results Interpretation
- Markers
- AFP
- Estriol
- hCG
- Inhibin A
- Aneuploidies
- Down Syndrome = HIgh
- Turner Syndrome = Very HIgh
- Edward Syndrome = Low HEAp
- Patau Syndrome = AFP is Normal
2 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
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
2 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
2 mins
Vitamin A (Retinol) Toxicity
- Signs and Symptoms
- Alopecia
- Vision Changes
- Headache
- Skin Changes
- Hyperlipidemia
- Hepatotoxicity
- Arthralgias
- Teratogen
- Cleft palate
- Cardiac Abnormalities
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
2 mins
Beriberi (Thiamine Deficiency)
- Thiamine deficiency
- Dry beriberi
- Polyneuritis
- Muscle wasting
- Wet beriberi
- Dilated Cardiomyopathy
- Edema
50 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
2 mins
Riboflavin (Vitamin B2)
- Classification
- Vitamin B2
- Biochemistry
- FAD
- FAD Makes 1.5 ATP
- Succinate to Fumarate
- DEFICIENCY
- Glossitis
- Cheilosis
- Corneal Vascularization
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
1 min
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
2 mins
Vitamin B5 (Pantothenate)
- Mechanism
- Pantothenate
- Pyruvate Dehydrogenase
- Coenzyme A
- Fatty Acid Synthase
- Deficiency Signs and Symptoms
- Enteritis
- Dermatitis
- Alopecia
- Adrenal Insufficiency
2 mins
Vitamin B6 (Pyridoxine)
- Pyridoxal Phosphate
- Mechanism
- Transamination
- Decarboxylation
- Glycogen Phosphorylase
- Cystathionine Synthase
- Functions
- Heme Synthesis
- Niacin Synthesis
- Neurotransmitter Synthesis
2 mins
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